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 118109165 118109165 + Missense_Mutation SNP C C T TCGA-XF-AAMQ-01A-11D-A42E-08 TCGA-XF-AAMQ-10A-01D-A42H-08 g.chrX:118109165C>T c.422C>T c.(421-423)aCg>aTg p.T141M BLCA 23 118109240 118109240 + Nonsense_Mutation SNP C C G TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 g.chrX:118109240C>G c.497C>G c.(496-498)tCa>tGa p.S166* BLCA 23 118124521 118124521 + Missense_Mutation SNP G G C TCGA-4Z-AA81-01A-11D-A391-08 TCGA-4Z-AA81-10A-01D-A394-08 g.chrX:118124521G>C c.1413G>C c.(1411-1413)atG>atC p.M471I BLCA 23 118148221 118148221 + Nonsense_Mutation SNP C C T TCGA-XF-AAMQ-01A-11D-A42E-08 TCGA-XF-AAMQ-10A-01D-A42H-08 g.chrX:118148221C>T c.2026C>T c.(2026-2028)Cag>Tag p.Q676* BRCA 23 118123497 118123497 + Missense_Mutation SNP G G C TCGA-C8-A274-01A-11D-A16D-09 TCGA-C8-A274-10A-01D-A16D-09 g.chrX:118123497G>C c.1186G>C c.(1186-1188)Gaa>Caa p.E396Q BRCA 23 118123503 118123503 + Missense_Mutation SNP G G C TCGA-A2-A0EY-01A-11W-A050-09 TCGA-A2-A0EY-10A-01W-A055-09 g.chrX:118123503G>C c.1192G>C c.(1192-1194)Gag>Cag p.E398Q BRCA 23 118140133 118140133 + Missense_Mutation SNP A A G TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 g.chrX:118140133A>G c.1465A>G c.(1465-1467)Aaa>Gaa p.K489E CESC 23 118123583 118123583 + Nonsense_Mutation SNP C C A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 g.chrX:118123583C>A c.1272C>A c.(1270-1272)tgC>tgA p.C424* CESC 23 118124432 118124432 + Splice_Site SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 g.chrX:118124432G>A c.e5-1 CESC 23 118143099 118143099 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chrX:118143099C>G c.1541C>G c.(1540-1542)tCa>tGa p.S514* COAD 23 118109108 118109108 + Missense_Mutation SNP C C G TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chrX:118109108C>G c.365C>G c.(364-366)gCg>gGg p.A122G COAD 23 118109243 118109244 + Frame_Shift_Ins INS - - C TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chrX:118109243_118109244insC c.500_501insC c.(499-504)gaccccfs p.DP167fs COAD 23 118109298 118109298 + Silent SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chrX:118109298G>A c.555G>A c.(553-555)ggG>ggA p.G185G COAD 23 118109343 118109343 + Silent SNP C C T TCGA-AD-6548-01A-11D-1835-10 TCGA-AD-6548-10A-01D-1835-10 g.chrX:118109343C>T c.600C>T c.(598-600)tcC>tcT p.S200S COAD 23 118109561 118109561 + Splice_Site SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chrX:118109561G>A c.e1+1 COAD 23 118112393 118112393 + Missense_Mutation SNP A A T TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chrX:118112393A>T c.903A>T c.(901-903)gaA>gaT p.E301D COAD 23 118124453 118124453 + Missense_Mutation SNP G G A TCGA-CM-6165-01A-11D-1650-10 TCGA-CM-6165-10A-01D-1650-10 g.chrX:118124453G>A c.1345G>A c.(1345-1347)Gac>Aac p.D449N COAD 23 118145809 118145809 + Missense_Mutation SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chrX:118145809A>G c.1684A>G c.(1684-1686)Act>Gct p.T562A COAD 23 118151531 118151531 + Missense_Mutation SNP A A T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chrX:118151531A>T c.2158A>T c.(2158-2160)Atg>Ttg p.M720L COADREAD 23 118108844 118108844 + Missense_Mutation SNP A A G TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chrX:118108844A>G c.101A>G c.(100-102)gAc>gGc p.D34G COADREAD 23 118109108 118109108 + Missense_Mutation SNP C C G TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chrX:118109108C>G c.365C>G c.(364-366)gCg>gGg p.A122G COADREAD 23 118109243 118109244 + Frame_Shift_Ins INS - - C TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chrX:118109243_118109244insC c.500_501insC c.(499-504)gaccccfs p.DP167fs COADREAD 23 118109298 118109298 + Silent SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chrX:118109298G>A c.555G>A c.(553-555)ggG>ggA p.G185G COADREAD 23 118109343 118109343 + Silent SNP C C T TCGA-AD-6548-01A-11D-1835-10 TCGA-AD-6548-10A-01D-1835-10 g.chrX:118109343C>T c.600C>T c.(598-600)tcC>tcT p.S200S COADREAD 23 118109561 118109561 + Splice_Site SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chrX:118109561G>A c.e1+1 COADREAD 23 118112393 118112393 + Missense_Mutation SNP A A T TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chrX:118112393A>T c.903A>T c.(901-903)gaA>gaT p.E301D COADREAD 23 118124453 118124453 + Missense_Mutation SNP G G A TCGA-CM-6165-01A-11D-1650-10 TCGA-CM-6165-10A-01D-1650-10 g.chrX:118124453G>A c.1345G>A c.(1345-1347)Gac>Aac p.D449N COADREAD 23 118145802 118145802 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:118145802C>T c.1677C>T c.(1675-1677)ttC>ttT p.F559F COADREAD 23 118145809 118145809 + Missense_Mutation SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chrX:118145809A>G c.1684A>G c.(1684-1686)Act>Gct p.T562A COADREAD 23 118147049 118147049 + Missense_Mutation SNP T T A TCGA-AF-3913-01A-02W-1073-09 TCGA-AF-3913-11A-01W-1073-09 g.chrX:118147049T>A c.1859T>A c.(1858-1860)tTt>tAt p.F620Y COADREAD 23 118151531 118151531 + Missense_Mutation SNP A A T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chrX:118151531A>T c.2158A>T c.(2158-2160)Atg>Ttg p.M720L DLBC 23 118109491 118109491 + Missense_Mutation SNP G G A TCGA-FF-8041-01A-11D-2210-10 TCGA-FF-8041-10A-01D-2210-10 g.chrX:118109491G>A c.748G>A c.(748-750)Ggc>Agc p.G250S ESCA 23 118148249 118148249 + Missense_Mutation SNP T T C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 g.chrX:118148249T>C c.2054T>C c.(2053-2055)cTc>cCc p.L685P GBM 23 118108897 118108897 + Missense_Mutation SNP C C T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 g.chrX:118108897C>T c.154C>T c.(154-156)Cgg>Tgg p.R52W GBM 23 118145848 118145848 + Missense_Mutation SNP T T A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 g.chrX:118145848T>A c.1723T>A c.(1723-1725)Ttt>Att p.F575I GBMLGG 23 118108897 118108897 + Missense_Mutation SNP C C T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 g.chrX:118108897C>T c.154C>T c.(154-156)Cgg>Tgg p.R52W GBMLGG 23 118108965 118108965 + Frame_Shift_Del DEL A A - TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 g.chrX:118108965delA c.222delA c.(220-222)gcafs p.A74fs GBMLGG 23 118123490 118123490 + Missense_Mutation SNP C C A TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 g.chrX:118123490C>A c.1179C>A c.(1177-1179)gaC>gaA p.D393E GBMLGG 23 118145848 118145848 + Missense_Mutation SNP T T A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 g.chrX:118145848T>A c.1723T>A c.(1723-1725)Ttt>Att p.F575I GBMLGG 23 118147045 118147045 + Missense_Mutation SNP T T G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:118147045T>G c.1855T>G c.(1855-1857)Ttc>Gtc p.F619V GBMLGG 23 118148199 118148199 + Frame_Shift_Del DEL G G - TCGA-DU-7010-01A-11D-2024-08 TCGA-DU-7010-10A-01D-2024-08 g.chrX:118148199delG c.2004delG c.(2002-2004)atgfs p.M668fs GBMLGG 23 118151572 118151572 + Silent SNP C C G TCGA-QH-A6X8-01A-12D-A32B-08 TCGA-QH-A6X8-10B-01D-A329-08 g.chrX:118151572C>G c.2199C>G c.(2197-2199)ccC>ccG p.P733P HNSC 23 118108892 118108892 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 g.chrX:118108892C>T c.149C>T c.(148-150)cCg>cTg p.P50L HNSC 23 118124489 118124489 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chrX:118124489G>A c.1381G>A c.(1381-1383)Gac>Aac p.D461N HNSC 23 118124510 118124510 + Missense_Mutation SNP G G T TCGA-BA-A6DA-01A-31D-A31L-08 TCGA-BA-A6DA-10A-01D-A31J-08 g.chrX:118124510G>T c.1402G>T c.(1402-1404)Gct>Tct p.A468S KIPAN 23 118108850 118108850 + Missense_Mutation SNP G G T TCGA-CJ-4920-01A-01D-1429-08 TCGA-CJ-4920-11A-01D-1429-08 g.chrX:118108850G>T c.107G>T c.(106-108)gGc>gTc p.G36V KIPAN 23 118109101 118109101 + Missense_Mutation SNP G G T TCGA-B9-4113-01A-01D-1252-08 TCGA-B9-4113-11A-01D-1252-08 g.chrX:118109101G>T c.358G>T c.(358-360)Gcg>Tcg p.A120S KIPAN 23 118140161 118140161 + Missense_Mutation SNP A A G TCGA-BP-4989-01A-01D-1462-08 TCGA-BP-4989-11A-01D-1462-08 g.chrX:118140161A>G c.1493A>G c.(1492-1494)aAc>aGc p.N498S KIRC 23 118108850 118108850 + Missense_Mutation SNP G G T TCGA-CJ-4920-01A-01D-1429-08 TCGA-CJ-4920-11A-01D-1429-08 g.chrX:118108850G>T c.107G>T c.(106-108)gGc>gTc p.G36V KIRC 23 118140161 118140161 + Missense_Mutation SNP A A G TCGA-BP-4989-01A-01D-1462-08 TCGA-BP-4989-11A-01D-1462-08 g.chrX:118140161A>G c.1493A>G c.(1492-1494)aAc>aGc p.N498S KIRP 23 118109101 118109101 + Missense_Mutation SNP G G T TCGA-B9-4113-01A-01D-1252-08 TCGA-B9-4113-11A-01D-1252-08 g.chrX:118109101G>T c.358G>T c.(358-360)Gcg>Tcg p.A120S LGG 23 118108965 118108965 + Frame_Shift_Del DEL A A - TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 g.chrX:118108965delA c.222delA c.(220-222)gcafs p.A74fs LGG 23 118123490 118123490 + Missense_Mutation SNP C C A TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 g.chrX:118123490C>A c.1179C>A c.(1177-1179)gaC>gaA p.D393E LGG 23 118147045 118147045 + Missense_Mutation SNP T T G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:118147045T>G c.1855T>G c.(1855-1857)Ttc>Gtc p.F619V LGG 23 118148199 118148199 + Frame_Shift_Del DEL G G - TCGA-DU-7010-01A-11D-2024-08 TCGA-DU-7010-10A-01D-2024-08 g.chrX:118148199delG c.2004delG c.(2002-2004)atgfs p.M668fs LGG 23 118151572 118151572 + Silent SNP C C G TCGA-QH-A6X8-01A-12D-A32B-08 TCGA-QH-A6X8-10B-01D-A329-08 g.chrX:118151572C>G c.2199C>G c.(2197-2199)ccC>ccG p.P733P LIHC 23 118145797 118145797 + Missense_Mutation SNP A A G TCGA-CC-A5UC-01A-11D-A28X-10 TCGA-CC-A5UC-10A-01D-A28X-10 g.chrX:118145797A>G c.1672A>G c.(1672-1674)Att>Gtt p.I558V LIHC 23 118148215 118148215 + Missense_Mutation SNP G G A TCGA-G3-A25U-01A-11D-A16V-10 TCGA-G3-A25U-10A-01D-A16V-10 g.chrX:118148215G>A c.2020G>A c.(2020-2022)Gtc>Atc p.V674I LUAD 23 118108865 118108865 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 g.chrX:118108865T>C c.122T>C c.(121-123)gTg>gCg p.V41A LUAD 23 118109183 118109183 + Missense_Mutation SNP C C A TCGA-55-A494-01A-11D-A24P-08 TCGA-55-A494-10A-01D-A24P-08 g.chrX:118109183C>A c.440C>A c.(439-441)gCg>gAg p.A147E LUAD 23 118109308 118109308 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chrX:118109308G>T c.565G>T c.(565-567)Gac>Tac p.D189Y LUAD 23 118109401 118109401 + Missense_Mutation SNP C C T TCGA-44-6776-01A-11D-1855-08 TCGA-44-6776-10A-01D-1855-08 g.chrX:118109401C>T c.658C>T c.(658-660)Ccg>Tcg p.P220S LUAD 23 118109472 118109472 + Silent SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 g.chrX:118109472G>T c.729G>T c.(727-729)gcG>gcT p.A243A LUAD 23 118109535 118109535 + Silent SNP C C G TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chrX:118109535C>G c.792C>G c.(790-792)ctC>ctG p.L264L LUAD 23 118112341 118112341 + Missense_Mutation SNP C C G TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 g.chrX:118112341C>G c.851C>G c.(850-852)tCt>tGt p.S284C LUAD 23 118112367 118112367 + Missense_Mutation SNP C C A TCGA-55-A48X-01A-11D-A24D-08 TCGA-55-A48X-10A-01D-A24F-08 g.chrX:118112367C>A c.877C>A c.(877-879)Cat>Aat p.H293N LUAD 23 118123383 118123383 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 g.chrX:118123383C>A c.1072C>A c.(1072-1074)Ctc>Atc p.L358I LUAD 23 118123451 118123451 + Silent SNP T T A TCGA-17-Z015-01A-01W-0746-08 TCGA-17-Z015-11A-01W-0746-08 g.chrX:118123451T>A c.1140T>A c.(1138-1140)gcT>gcA p.A380A LUAD 23 118123528 118123528 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 g.chrX:118123528C>T c.1217C>T c.(1216-1218)cCa>cTa p.P406L LUAD 23 118124489 118124489 + Missense_Mutation SNP G G T TCGA-50-6594-01A-11D-1753-08 TCGA-50-6594-11A-01D-1753-08 g.chrX:118124489G>T c.1381G>T c.(1381-1383)Gac>Tac p.D461Y LUAD 23 118140177 118140177 + Missense_Mutation SNP G G T TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chrX:118140177G>T c.1509G>T c.(1507-1509)ttG>ttT p.L503F LUAD 23 118145781 118145781 + Silent SNP T T C TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chrX:118145781T>C c.1656T>C c.(1654-1656)ctT>ctC p.L552L LUAD 23 118147002 118147002 + Splice_Site SNP G G T TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chrX:118147002G>T c.1812G>T c.(1810-1812)ggG>ggT p.G604G LUAD 23 118147029 118147029 + Missense_Mutation SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 g.chrX:118147029G>T c.1839G>T c.(1837-1839)gaG>gaT p.E613D LUAD 23 118147113 118147113 + Missense_Mutation SNP C C A TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chrX:118147113C>A c.1923C>A c.(1921-1923)agC>agA p.S641R LUAD 23 118147138 118147138 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chrX:118147138G>T c.1948G>T c.(1948-1950)Gac>Tac p.D650Y LUAD 23 118151596 118151596 + Missense_Mutation SNP G G T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chrX:118151596G>T c.2223G>T c.(2221-2223)aaG>aaT p.K741N LUSC 23 118109537 118109537 + Missense_Mutation SNP A A T TCGA-34-2600-01A-01D-1522-08 TCGA-34-2600-11A-01D-1522-08 g.chrX:118109537A>T c.794A>T c.(793-795)aAg>aTg p.K265M LUSC 23 118116786 118116786 + Silent SNP A A T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 g.chrX:118116786A>T c.939A>T c.(937-939)gcA>gcT p.A313A LUSC 23 118123389 118123389 + Missense_Mutation SNP C C T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 g.chrX:118123389C>T c.1078C>T c.(1078-1080)Cat>Tat p.H360Y LUSC 23 118124510 118124510 + Missense_Mutation SNP G G A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 g.chrX:118124510G>A c.1402G>A c.(1402-1404)Gct>Act p.A468T LUSC 23 118143099 118143099 + Nonsense_Mutation SNP C C G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chrX:118143099C>G c.1541C>G c.(1540-1542)tCa>tGa p.S514* LUSC 23 118147105 118147105 + Missense_Mutation SNP C C T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 g.chrX:118147105C>T c.1915C>T c.(1915-1917)Cat>Tat p.H639Y OV 23 118143138 118143138 + Missense_Mutation SNP T T A TCGA-36-2534-01A-01D-1526-09 TCGA-36-2534-10A-01D-1526-09 g.chrX:118143138T>A c.1580T>A c.(1579-1581)aTa>aAa p.I527K OV 23 118145901 118145901 + Silent SNP A A G TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 g.chrX:118145901A>G c.1776A>G c.(1774-1776)agA>agG p.R592R PAAD 23 118112410 118112410 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chrX:118112410G>A c.920G>A c.(919-921)cGc>cAc p.R307H PAAD 23 118140187 118140187 + Missense_Mutation SNP G G A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 g.chrX:118140187G>A c.1519G>A c.(1519-1521)Ggt>Agt p.G507S PCPG 23 118143095 118143095 + Missense_Mutation SNP G G T TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 g.chrX:118143095G>T c.1537G>T c.(1537-1539)Gca>Tca p.A513S PRAD 23 118109397 118109399 + In_Frame_Del DEL GCC GCC - TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 g.chrX:118109397_118109399delGCC c.654_656delGCC c.(652-657)cagccg>cag p.P222del READ 23 118108844 118108844 + Missense_Mutation SNP A A G TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chrX:118108844A>G c.101A>G c.(100-102)gAc>gGc p.D34G READ 23 118145802 118145802 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:118145802C>T c.1677C>T c.(1675-1677)ttC>ttT p.F559F READ 23 118147049 118147049 + Missense_Mutation SNP T T A TCGA-AF-3913-01A-02W-1073-09 TCGA-AF-3913-11A-01W-1073-09 g.chrX:118147049T>A c.1859T>A c.(1858-1860)tTt>tAt p.F620Y SARC 23 118124458 118124458 + Missense_Mutation SNP A A T TCGA-X6-A8C5-01A-11D-A36J-09 TCGA-X6-A8C5-10A-01D-A36M-09 g.chrX:118124458A>T c.1350A>T c.(1348-1350)aaA>aaT p.K450N SARC 23 118124513 118124513 + Missense_Mutation SNP C C G TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 g.chrX:118124513C>G c.1405C>G c.(1405-1407)Cta>Gta p.L469V SKCM 23 118109231 118109231 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chrX:118109231G>A c.488G>A c.(487-489)gGg>gAg p.G163E SKCM 23 118123394 118123394 + Silent SNP T T C TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chrX:118123394T>C c.1083T>C c.(1081-1083)tgT>tgC p.C361C SKCM 23 118140157 118140157 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chrX:118140157C>T c.1489C>T c.(1489-1491)Cac>Tac p.H497Y SKCM 23 118145875 118145875 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrX:118145875C>T c.1750C>T c.(1750-1752)Cgt>Tgt p.R584C SKCM 23 118148314 118148314 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chrX:118148314C>T c.2119C>T c.(2119-2121)Cct>Tct p.P707S SKCM 23 118151559 118151559 + Missense_Mutation SNP G G A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chrX:118151559G>A c.2186G>A c.(2185-2187)cGa>cAa p.R729Q

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US X 118108893 118108893 single base substitution G A exon_variant ALL-US X 118108893 118108893 single base substitution G A synonymous_variant P50P 150G>A ALL-US X 118108893 118108893 single base substitution G A upstream_gene_variant BLCA-CN X 118123375 118123375 single base substitution A G exon_variant BLCA-CN X 118123375 118123375 single base substitution A G missense_variant N120S 359A>G BLCA-CN X 118123375 118123375 single base substitution A G missense_variant N314S 941A>G BLCA-CN X 118123375 118123375 single base substitution A G missense_variant N355S 1064A>G BLCA-CN X 118123375 118123375 single base substitution A G missense_variant N99S 296A>G BLCA-CN X 118148279 118148279 single base substitution A G 3_prime_UTR_variant BLCA-CN X 118148279 118148279 single base substitution A G exon_variant BLCA-CN X 118148279 118148279 single base substitution A G missense_variant N439S 1316A>G BLCA-CN X 118148279 118148279 single base substitution A G missense_variant N460S 1379A>G BLCA-CN X 118148279 118148279 single base substitution A G missense_variant N654S 1961A>G BLCA-CN X 118148279 118148279 single base substitution A G missense_variant N695S 2084A>G BLCA-US X 118109240 118109240 single base substitution C G exon_variant BLCA-US X 118109240 118109240 single base substitution C G stop_gained S166* 497C>G BLCA-US X 118109240 118109240 single base substitution C G upstream_gene_variant BRCA-EU X 118103694 118103694 single base substitution C A upstream_gene_variant BRCA-EU X 118104037 118104037 single base substitution C G upstream_gene_variant BRCA-EU X 118104209 118104209 deletion of <=200bp T - upstream_gene_variant BRCA-EU X 118104661 118104661 single base substitution A C upstream_gene_variant BRCA-EU X 118104839 118104839 single base substitution G A upstream_gene_variant BRCA-EU X 118105230 118105230 single base substitution G A upstream_gene_variant BRCA-EU X 118105251 118105251 single base substitution G C upstream_gene_variant BRCA-EU X 118105282 118105282 single base substitution G A upstream_gene_variant BRCA-EU X 118105436 118105436 deletion of <=200bp G - upstream_gene_variant BRCA-EU X 118105805 118105805 single base substitution C G upstream_gene_variant BRCA-EU X 118106998 118106998 single base substitution T A upstream_gene_variant BRCA-EU X 118107015 118107015 single base substitution G A upstream_gene_variant BRCA-EU X 118107343 118107343 single base substitution G A upstream_gene_variant BRCA-EU X 118107953 118107953 single base substitution C T upstream_gene_variant BRCA-EU X 118108015 118108015 single base substitution G T upstream_gene_variant BRCA-EU X 118108829 118108829 single base substitution C T exon_variant BRCA-EU X 118108829 118108829 single base substitution C T missense_variant S29L 86C>T BRCA-EU X 118108829 118108829 single base substitution C T upstream_gene_variant BRCA-EU X 118108935 118108935 single base substitution G A exon_variant BRCA-EU X 118108935 118108935 single base substitution G A synonymous_variant T64T 192G>A BRCA-EU X 118108935 118108935 single base substitution G A upstream_gene_variant BRCA-EU X 118111211 118111211 single base substitution G A intron_variant BRCA-EU X 118111996 118111996 single base substitution A G intron_variant BRCA-EU X 118112932 118112932 single base substitution T C intron_variant BRCA-EU X 118113117 118113117 single base substitution C A intron_variant BRCA-EU X 118113118 118113118 single base substitution C A intron_variant BRCA-EU X 118113447 118113447 single base substitution G T intron_variant BRCA-EU X 118113472 118113472 single base substitution C G intron_variant BRCA-EU X 118113867 118113867 single base substitution G A intron_variant BRCA-EU X 118114550 118114550 single base substitution G C intron_variant BRCA-EU X 118114581 118114581 deletion of <=200bp T - intron_variant BRCA-EU X 118114789 118114789 single base substitution G A intron_variant BRCA-EU X 118114916 118114916 single base substitution G A intron_variant BRCA-EU X 118115349 118115349 single base substitution G A intron_variant BRCA-EU X 118115483 118115483 single base substitution G C intron_variant BRCA-EU X 118116135 118116135 single base substitution G A intron_variant BRCA-EU X 118117393 118117393 single base substitution C T intron_variant BRCA-EU X 118117576 118117576 single base substitution C T intron_variant BRCA-EU X 118117608 118117608 single base substitution A G intron_variant BRCA-EU X 118118702 118118702 single base substitution A G intron_variant BRCA-EU X 118120090 118120090 single base substitution T A intron_variant BRCA-EU X 118120105 118120105 single base substitution G A intron_variant BRCA-EU X 118121502 118121502 single base substitution C A intron_variant BRCA-EU X 118122114 118122114 single base substitution G A intron_variant BRCA-EU X 118123429 118123429 single base substitution G A exon_variant BRCA-EU X 118123429 118123429 single base substitution G A missense_variant G117D 350G>A BRCA-EU X 118123429 118123429 single base substitution G A missense_variant G138D 413G>A BRCA-EU X 118123429 118123429 single base substitution G A missense_variant G332D 995G>A BRCA-EU X 118123429 118123429 single base substitution G A missense_variant G373D 1118G>A BRCA-EU X 118123778 118123778 single base substitution A G intron_variant BRCA-EU X 118125452 118125452 single base substitution C T intron_variant BRCA-EU X 118125736 118125736 single base substitution C T intron_variant BRCA-EU X 118126181 118126181 single base substitution C T intron_variant BRCA-EU X 118126853 118126853 single base substitution G C intron_variant BRCA-EU X 118127596 118127596 single base substitution G C intron_variant BRCA-EU X 118129257 118129257 single base substitution G T intron_variant BRCA-EU X 118129999 118129999 insertion of <=200bp - A intron_variant BRCA-EU X 118130372 118130372 single base substitution G C intron_variant BRCA-EU X 118131173 118131173 single base substitution G T intron_variant BRCA-EU X 118131825 118131825 single base substitution C A intron_variant BRCA-EU X 118133138 118133138 single base substitution T G intron_variant BRCA-EU X 118133473 118133473 single base substitution G A intron_variant BRCA-EU X 118133504 118133504 single base substitution G A intron_variant BRCA-EU X 118136405 118136405 single base substitution C T intron_variant BRCA-EU X 118139994 118139994 single base substitution C G intron_variant BRCA-EU X 118140611 118140611 single base substitution C T intron_variant BRCA-EU X 118141655 118141655 single base substitution G A intron_variant BRCA-EU X 118142053 118142053 single base substitution C A intron_variant BRCA-EU X 118143435 118143435 single base substitution C T intron_variant BRCA-EU X 118143767 118143767 single base substitution C G intron_variant BRCA-EU X 118144014 118144014 single base substitution G A intron_variant BRCA-EU X 118144225 118144225 insertion of <=200bp - A intron_variant BRCA-EU X 118144374 118144374 single base substitution C T intron_variant BRCA-EU X 118144660 118144660 single base substitution G C intron_variant BRCA-EU X 118145469 118145469 single base substitution C G intron_variant BRCA-EU X 118145893 118145893 single base substitution G T exon_variant BRCA-EU X 118145893 118145893 single base substitution G T missense_variant G334C 1000G>T BRCA-EU X 118145893 118145893 single base substitution G T missense_variant G355C 1063G>T BRCA-EU X 118145893 118145893 single base substitution G T missense_variant G549C 1645G>T BRCA-EU X 118145893 118145893 single base substitution G T missense_variant G590C 1768G>T BRCA-EU X 118147537 118147537 single base substitution G T intron_variant BRCA-EU X 118149563 118149563 single base substitution G C intron_variant BRCA-EU X 118149664 118149664 single base substitution G A intron_variant BRCA-EU X 118150460 118150460 single base substitution G A intron_variant BRCA-EU X 118151340 118151340 single base substitution G A intron_variant BRCA-EU X 118151469 118151469 single base substitution G A intron_variant BRCA-EU X 118151620 118151620 single base substitution A G 3_prime_UTR_variant BRCA-EU X 118151620 118151620 single base substitution A G exon_variant BRCA-EU X 118151620 118151620 single base substitution A G synonymous_variant R493R 1479A>G BRCA-EU X 118151620 118151620 single base substitution A G synonymous_variant R514R 1542A>G BRCA-EU X 118151620 118151620 single base substitution A G synonymous_variant R708R 2124A>G BRCA-EU X 118151620 118151620 single base substitution A G synonymous_variant R749R 2247A>G BRCA-EU X 118152288 118152288 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU X 118152288 118152288 deletion of <=200bp T - downstream_gene_variant BRCA-EU X 118152588 118152588 single base substitution C A downstream_gene_variant BRCA-EU X 118155823 118155823 single base substitution T G downstream_gene_variant BRCA-EU X 118156713 118156713 deletion of <=200bp T - downstream_gene_variant BRCA-EU X 118156928 118156928 single base substitution G C downstream_gene_variant BRCA-FR X 118104661 118104661 single base substitution A C upstream_gene_variant BRCA-FR X 118110021 118110021 single base substitution C T intron_variant BRCA-FR X 118110021 118110021 single base substitution C T upstream_gene_variant BRCA-FR X 118114916 118114916 single base substitution G A intron_variant BRCA-FR X 118116648 118116648 single base substitution G A intron_variant BRCA-FR X 118120912 118120912 single base substitution T C exon_variant BRCA-FR X 118120912 118120912 single base substitution T C intron_variant BRCA-FR X 118120912 118120912 single base substitution T C missense_variant S54P 160T>C BRCA-FR X 118122385 118122385 single base substitution T A intron_variant BRCA-FR X 118125736 118125736 single base substitution C T intron_variant BRCA-FR X 118139994 118139994 single base substitution C G intron_variant BRCA-FR X 118144660 118144660 single base substitution G C intron_variant BRCA-FR X 118150460 118150460 single base substitution G A intron_variant BRCA-FR X 118156928 118156928 single base substitution G C downstream_gene_variant BRCA-KR X 118109237 118109237 single base substitution T C exon_variant BRCA-KR X 118109237 118109237 single base substitution T C missense_variant L165P 494T>C BRCA-KR X 118109237 118109237 single base substitution T C upstream_gene_variant BRCA-UK X 118107953 118107953 single base substitution C T upstream_gene_variant BRCA-UK X 118126181 118126181 single base substitution C T intron_variant BRCA-UK X 118131825 118131825 single base substitution C A intron_variant BRCA-UK X 118140611 118140611 single base substitution C T intron_variant BRCA-UK X 118155948 118155948 single base substitution C T downstream_gene_variant BRCA-US X 118123497 118123497 single base substitution G C exon_variant BRCA-US X 118123497 118123497 single base substitution G C missense_variant E140Q 418G>C BRCA-US X 118123497 118123497 single base substitution G C missense_variant E161Q 481G>C BRCA-US X 118123497 118123497 single base substitution G C missense_variant E355Q 1063G>C BRCA-US X 118123497 118123497 single base substitution G C missense_variant E396Q 1186G>C BRCA-US X 118123503 118123503 single base substitution G C exon_variant BRCA-US X 118123503 118123503 single base substitution G C missense_variant E142Q 424G>C BRCA-US X 118123503 118123503 single base substitution G C missense_variant E163Q 487G>C BRCA-US X 118123503 118123503 single base substitution G C missense_variant E357Q 1069G>C BRCA-US X 118123503 118123503 single base substitution G C missense_variant E398Q 1192G>C BRCA-US X 118140133 118140133 single base substitution A G exon_variant BRCA-US X 118140133 118140133 single base substitution A G missense_variant K233E 697A>G BRCA-US X 118140133 118140133 single base substitution A G missense_variant K254E 760A>G BRCA-US X 118140133 118140133 single base substitution A G missense_variant K448E 1342A>G BRCA-US X 118140133 118140133 single base substitution A G missense_variant K489E 1465A>G BRCA-US X 118151790 118151790 single base substitution G A 3_prime_UTR_variant BRCA-US X 118151790 118151790 single base substitution G A exon_variant BTCA-JP X 118146937 118146937 single base substitution G A 3_prime_UTR_variant BTCA-JP X 118146937 118146937 single base substitution G A exon_variant BTCA-JP X 118146937 118146937 single base substitution G A intron_variant BTCA-JP X 118148417 118148417 single base substitution G A intron_variant CESC-US X 118123583 118123583 single base substitution C A exon_variant CESC-US X 118123583 118123583 single base substitution C A stop_gained C168* 504C>A CESC-US X 118123583 118123583 single base substitution C A stop_gained C189* 567C>A CESC-US X 118123583 118123583 single base substitution C A stop_gained C383* 1149C>A CESC-US X 118123583 118123583 single base substitution C A stop_gained C424* 1272C>A CESC-US X 118124432 118124432 single base substitution G A splice_acceptor_variant CESC-US X 118143099 118143099 single base substitution C G exon_variant CESC-US X 118143099 118143099 single base substitution C G stop_gained S258* 773C>G CESC-US X 118143099 118143099 single base substitution C G stop_gained S279* 836C>G CESC-US X 118143099 118143099 single base substitution C G stop_gained S473* 1418C>G CESC-US X 118143099 118143099 single base substitution C G stop_gained S514* 1541C>G CLLE-ES X 118106881 118106881 single base substitution T A upstream_gene_variant CLLE-ES X 118110409 118110409 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant CLLE-ES X 118110409 118110409 single base substitution C T exon_variant CLLE-ES X 118110409 118110409 single base substitution C T intron_variant CLLE-ES X 118131374 118131374 single base substitution C A intron_variant COAD-US X 118109108 118109108 single base substitution C G exon_variant COAD-US X 118109108 118109108 single base substitution C G missense_variant A122G 365C>G COAD-US X 118109108 118109108 single base substitution C G upstream_gene_variant COAD-US X 118109243 118109243 insertion of <=200bp - C exon_variant COAD-US X 118109243 118109243 insertion of <=200bp - C frameshift_variant D167A? COAD-US X 118109243 118109243 insertion of <=200bp - C upstream_gene_variant COAD-US X 118109343 118109343 single base substitution C T exon_variant COAD-US X 118109343 118109343 single base substitution C T synonymous_variant S200S 600C>T COAD-US X 118109343 118109343 single base substitution C T synonymous_variant S6S 18C>T COAD-US X 118109343 118109343 single base substitution C T upstream_gene_variant COAD-US X 118109561 118109561 single base substitution G A splice_donor_variant COAD-US X 118109561 118109561 single base substitution G A upstream_gene_variant COAD-US X 118112410 118112410 single base substitution G A 5_prime_UTR_variant COAD-US X 118112410 118112410 single base substitution G A exon_variant COAD-US X 118112410 118112410 single base substitution G A missense_variant R113H 338G>A COAD-US X 118112410 118112410 single base substitution G A missense_variant R307H 920G>A COAD-US X 118124453 118124453 single base substitution G A exon_variant COAD-US X 118124453 118124453 single base substitution G A missense_variant D193N 577G>A COAD-US X 118124453 118124453 single base substitution G A missense_variant D214N 640G>A COAD-US X 118124453 118124453 single base substitution G A missense_variant D408N 1222G>A COAD-US X 118124453 118124453 single base substitution G A missense_variant D449N 1345G>A COAD-US X 118124509 118124509 single base substitution C T exon_variant COAD-US X 118124509 118124509 single base substitution C T synonymous_variant C211C 633C>T COAD-US X 118124509 118124509 single base substitution C T synonymous_variant C232C 696C>T COAD-US X 118124509 118124509 single base substitution C T synonymous_variant C426C 1278C>T COAD-US X 118124509 118124509 single base substitution C T synonymous_variant C467C 1401C>T COAD-US X 118145809 118145809 single base substitution A G exon_variant COAD-US X 118145809 118145809 single base substitution A G missense_variant T306A 916A>G COAD-US X 118145809 118145809 single base substitution A G missense_variant T327A 979A>G COAD-US X 118145809 118145809 single base substitution A G missense_variant T521A 1561A>G COAD-US X 118145809 118145809 single base substitution A G missense_variant T562A 1684A>G COCA-CN X 118109484 118109484 single base substitution G A exon_variant COCA-CN X 118109484 118109484 single base substitution G A synonymous_variant R247R 741G>A COCA-CN X 118109484 118109484 single base substitution G A synonymous_variant R53R 159G>A COCA-CN X 118109484 118109484 single base substitution G A upstream_gene_variant COCA-CN X 118124694 118124694 single base substitution G C intron_variant COCA-CN X 118143144 118143144 single base substitution A C exon_variant COCA-CN X 118143144 118143144 single base substitution A C missense_variant K273T 818A>C COCA-CN X 118143144 118143144 single base substitution A C missense_variant K294T 881A>C COCA-CN X 118143144 118143144 single base substitution A C missense_variant K488T 1463A>C COCA-CN X 118143144 118143144 single base substitution A C missense_variant K529T 1586A>C COCA-CN X 118146956 118146956 single base substitution G T 3_prime_UTR_variant COCA-CN X 118146956 118146956 single base substitution G T exon_variant COCA-CN X 118146956 118146956 single base substitution G T intron_variant EOPC-DE X 118123879 118123879 single base substitution G A intron_variant ESCA-CN X 118123617 118123617 single base substitution A G exon_variant ESCA-CN X 118123617 118123617 single base substitution A G missense_variant N180D 538A>G ESCA-CN X 118123617 118123617 single base substitution A G missense_variant N201D 601A>G ESCA-CN X 118123617 118123617 single base substitution A G missense_variant N395D 1183A>G ESCA-CN X 118123617 118123617 single base substitution A G missense_variant N436D 1306A>G ESCA-CN X 118143139 118143139 single base substitution A T exon_variant ESCA-CN X 118143139 118143139 single base substitution A T synonymous_variant I271I 813A>T ESCA-CN X 118143139 118143139 single base substitution A T synonymous_variant I292I 876A>T ESCA-CN X 118143139 118143139 single base substitution A T synonymous_variant I486I 1458A>T ESCA-CN X 118143139 118143139 single base substitution A T synonymous_variant I527I 1581A>T ESCA-CN X 118145920 118145920 single base substitution G T exon_variant ESCA-CN X 118145920 118145920 single base substitution G T stop_gained G343* 1027G>T ESCA-CN X 118145920 118145920 single base substitution G T stop_gained G364* 1090G>T ESCA-CN X 118145920 118145920 single base substitution G T stop_gained G558* 1672G>T ESCA-CN X 118145920 118145920 single base substitution G T stop_gained G599* 1795G>T ESCA-CN X 118148181 118148181 single base substitution G T 3_prime_UTR_variant ESCA-CN X 118148181 118148181 single base substitution G T exon_variant ESCA-CN X 118148181 118148181 single base substitution G T missense_variant E406D 1218G>T ESCA-CN X 118148181 118148181 single base substitution G T missense_variant E427D 1281G>T ESCA-CN X 118148181 118148181 single base substitution G T missense_variant E621D 1863G>T ESCA-CN X 118148181 118148181 single base substitution G T missense_variant E662D 1986G>T GBM-US X 118108897 118108897 single base substitution C T exon_variant GBM-US X 118108897 118108897 single base substitution C T missense_variant R52W 154C>T GBM-US X 118108897 118108897 single base substitution C T upstream_gene_variant GBM-US X 118145848 118145848 single base substitution T A exon_variant GBM-US X 118145848 118145848 single base substitution T A missense_variant F319I 955T>A GBM-US X 118145848 118145848 single base substitution T A missense_variant F340I 1018T>A GBM-US X 118145848 118145848 single base substitution T A missense_variant F534I 1600T>A GBM-US X 118145848 118145848 single base substitution T A missense_variant F575I 1723T>A KIRC-US X 118108850 118108850 single base substitution G T exon_variant KIRC-US X 118108850 118108850 single base substitution G T missense_variant G36V 107G>T KIRC-US X 118108850 118108850 single base substitution G T upstream_gene_variant KIRC-US X 118140161 118140161 single base substitution A G exon_variant KIRC-US X 118140161 118140161 single base substitution A G missense_variant N242S 725A>G KIRC-US X 118140161 118140161 single base substitution A G missense_variant N263S 788A>G KIRC-US X 118140161 118140161 single base substitution A G missense_variant N457S 1370A>G KIRC-US X 118140161 118140161 single base substitution A G missense_variant N498S 1493A>G KIRP-US X 118151559 118151559 single base substitution G A 3_prime_UTR_variant KIRP-US X 118151559 118151559 single base substitution G A exon_variant KIRP-US X 118151559 118151559 single base substitution G A missense_variant R473Q 1418G>A KIRP-US X 118151559 118151559 single base substitution G A missense_variant R494Q 1481G>A KIRP-US X 118151559 118151559 single base substitution G A missense_variant R688Q 2063G>A KIRP-US X 118151559 118151559 single base substitution G A missense_variant R729Q 2186G>A LGG-US X 118123490 118123490 single base substitution C A exon_variant LGG-US X 118123490 118123490 single base substitution C A missense_variant D137E 411C>A LGG-US X 118123490 118123490 single base substitution C A missense_variant D158E 474C>A LGG-US X 118123490 118123490 single base substitution C A missense_variant D352E 1056C>A LGG-US X 118123490 118123490 single base substitution C A missense_variant D393E 1179C>A LGG-US X 118148199 118148199 deletion of <=200bp G - 3_prime_UTR_variant LGG-US X 118148199 118148199 deletion of <=200bp G - exon_variant LGG-US X 118148199 118148199 deletion of <=200bp G - frameshift_variant M412 LGG-US X 118148199 118148199 deletion of <=200bp G - frameshift_variant M433 LGG-US X 118148199 118148199 deletion of <=200bp G - frameshift_variant M627 LGG-US X 118148199 118148199 deletion of <=200bp G - frameshift_variant M668 LICA-FR X 118109247 118109247 single base substitution C G exon_variant LICA-FR X 118109247 118109247 single base substitution C G synonymous_variant P168P 504C>G LICA-FR X 118109247 118109247 single base substitution C G upstream_gene_variant LICA-FR X 118109365 118109365 single base substitution C A exon_variant LICA-FR X 118109365 118109365 single base substitution C A synonymous_variant R14R 40C>A LICA-FR X 118109365 118109365 single base substitution C A synonymous_variant R208R 622C>A LICA-FR X 118109365 118109365 single base substitution C A upstream_gene_variant LICA-FR X 118110966 118110966 deletion of <=200bp G - intron_variant LICA-FR X 118113115 118113115 single base substitution C T intron_variant LICA-FR X 118134777 118134777 single base substitution T A intron_variant LICA-FR X 118151569 118151569 single base substitution C G 3_prime_UTR_variant LICA-FR X 118151569 118151569 single base substitution C G exon_variant LICA-FR X 118151569 118151569 single base substitution C G synonymous_variant L476L 1428C>G LICA-FR X 118151569 118151569 single base substitution C G synonymous_variant L497L 1491C>G LICA-FR X 118151569 118151569 single base substitution C G synonymous_variant L691L 2073C>G LICA-FR X 118151569 118151569 single base substitution C G synonymous_variant L732L 2196C>G LIHC-US X 118145797 118145797 single base substitution A G exon_variant LIHC-US X 118145797 118145797 single base substitution A G missense_variant I302V 904A>G LIHC-US X 118145797 118145797 single base substitution A G missense_variant I323V 967A>G LIHC-US X 118145797 118145797 single base substitution A G missense_variant I517V 1549A>G LIHC-US X 118145797 118145797 single base substitution A G missense_variant I558V 1672A>G LIHC-US X 118148215 118148215 single base substitution G A 3_prime_UTR_variant LIHC-US X 118148215 118148215 single base substitution G A exon_variant LIHC-US X 118148215 118148215 single base substitution G A missense_variant V418I 1252G>A LIHC-US X 118148215 118148215 single base substitution G A missense_variant V439I 1315G>A LIHC-US X 118148215 118148215 single base substitution G A missense_variant V633I 1897G>A LIHC-US X 118148215 118148215 single base substitution G A missense_variant V674I 2020G>A LIHC-US X 118148310 118148310 single base substitution C A 3_prime_UTR_variant LIHC-US X 118148310 118148310 single base substitution C A exon_variant LIHC-US X 118148310 118148310 single base substitution C A synonymous_variant A449A 1347C>A LIHC-US X 118148310 118148310 single base substitution C A synonymous_variant A470A 1410C>A LIHC-US X 118148310 118148310 single base substitution C A synonymous_variant A664A 1992C>A LIHC-US X 118148310 118148310 single base substitution C A synonymous_variant A705A 2115C>A LINC-JP X 118104875 118104875 single base substitution C T upstream_gene_variant LINC-JP X 118110205 118110205 single base substitution C G intron_variant LINC-JP X 118110205 118110205 single base substitution C G upstream_gene_variant LINC-JP X 118111134 118111134 deletion of <=200bp A - intron_variant LINC-JP X 118120971 118120971 single base substitution C T exon_variant LINC-JP X 118120971 118120971 single base substitution C T intron_variant LINC-JP X 118120971 118120971 single base substitution C T synonymous_variant H73H 219C>T LINC-JP X 118121437 118121437 single base substitution G T intron_variant LINC-JP X 118131428 118131428 single base substitution A G intron_variant LINC-JP X 118138349 118138349 single base substitution C G intron_variant LIRI-JP X 118105598 118105598 single base substitution C A upstream_gene_variant LIRI-JP X 118107571 118107571 single base substitution T C upstream_gene_variant LIRI-JP X 118113402 118113402 single base substitution G A intron_variant LIRI-JP X 118114627 118114628 deletion of <=200bp GT - intron_variant LIRI-JP X 118114786 118114786 single base substitution G T intron_variant LIRI-JP X 118122604 118122604 single base substitution C T intron_variant LIRI-JP X 118122945 118122945 single base substitution G A intron_variant LIRI-JP X 118125053 118125053 single base substitution T G intron_variant LIRI-JP X 118126322 118126322 single base substitution A G intron_variant LIRI-JP X 118128727 118128727 single base substitution A T intron_variant LIRI-JP X 118131402 118131402 single base substitution A G intron_variant LIRI-JP X 118133410 118133410 single base substitution C T intron_variant LIRI-JP X 118134096 118134096 single base substitution G T intron_variant LIRI-JP X 118134117 118134117 single base substitution G A intron_variant LIRI-JP X 118134202 118134202 single base substitution G T intron_variant LIRI-JP X 118136699 118136699 single base substitution C A intron_variant LIRI-JP X 118138160 118138160 single base substitution G A intron_variant LIRI-JP X 118140577 118140577 single base substitution G T intron_variant LIRI-JP X 118143168 118143168 deletion of <=200bp A - exon_variant LIRI-JP X 118143168 118143168 deletion of <=200bp A - frameshift_variant E281 LIRI-JP X 118143168 118143168 deletion of <=200bp A - frameshift_variant E302 LIRI-JP X 118143168 118143168 deletion of <=200bp A - frameshift_variant E496 LIRI-JP X 118143168 118143168 deletion of <=200bp A - frameshift_variant E537 LIRI-JP X 118144036 118144036 single base substitution C G intron_variant LIRI-JP X 118146274 118146274 single base substitution C A intron_variant LIRI-JP X 118146879 118146879 single base substitution G A 3_prime_UTR_variant LIRI-JP X 118146879 118146879 single base substitution G A exon_variant LIRI-JP X 118146879 118146879 single base substitution G A intron_variant LIRI-JP X 118146916 118146916 single base substitution T C 3_prime_UTR_variant LIRI-JP X 118146916 118146916 single base substitution T C exon_variant LIRI-JP X 118146916 118146916 single base substitution T C intron_variant LIRI-JP X 118149270 118149270 single base substitution T C intron_variant LIRI-JP X 118149944 118149944 single base substitution A G intron_variant LIRI-JP X 118150042 118150042 single base substitution C A intron_variant LIRI-JP X 118150294 118150294 insertion of <=200bp - TTTC intron_variant LIRI-JP X 118150760 118150760 single base substitution T C intron_variant LIRI-JP X 118151338 118151338 single base substitution A G intron_variant LIRI-JP X 118151568 118151568 single base substitution T G 3_prime_UTR_variant LIRI-JP X 118151568 118151568 single base substitution T G exon_variant LIRI-JP X 118151568 118151568 single base substitution T G missense_variant L476R 1427T>G LIRI-JP X 118151568 118151568 single base substitution T G missense_variant L497R 1490T>G LIRI-JP X 118151568 118151568 single base substitution T G missense_variant L691R 2072T>G LIRI-JP X 118151568 118151568 single base substitution T G missense_variant L732R 2195T>G LIRI-JP X 118153666 118153666 single base substitution G T downstream_gene_variant LIRI-JP X 118155061 118155061 single base substitution A C downstream_gene_variant LIRI-JP X 118156812 118156812 single base substitution G T downstream_gene_variant LUSC-CN X 118152037 118152037 single base substitution A G 3_prime_UTR_variant LUSC-CN X 118152037 118152037 single base substitution A G downstream_gene_variant LUSC-KR X 118107785 118107785 single base substitution C T upstream_gene_variant LUSC-KR X 118112551 118112551 single base substitution G C intron_variant LUSC-KR X 118119585 118119585 single base substitution G A intron_variant LUSC-KR X 118123610 118123610 single base substitution G T exon_variant LUSC-KR X 118123610 118123610 single base substitution G T synonymous_variant G177G 531G>T LUSC-KR X 118123610 118123610 single base substitution G T synonymous_variant G198G 594G>T LUSC-KR X 118123610 118123610 single base substitution G T synonymous_variant G392G 1176G>T LUSC-KR X 118123610 118123610 single base substitution G T synonymous_variant G433G 1299G>T LUSC-KR X 118125036 118125036 single base substitution G C intron_variant LUSC-KR X 118126680 118126680 single base substitution A T intron_variant LUSC-KR X 118131534 118131534 single base substitution G T intron_variant LUSC-KR X 118133364 118133364 single base substitution G T intron_variant LUSC-KR X 118148220 118148220 single base substitution T C 3_prime_UTR_variant LUSC-KR X 118148220 118148220 single base substitution T C exon_variant LUSC-KR X 118148220 118148220 single base substitution T C synonymous_variant Y419Y 1257T>C LUSC-KR X 118148220 118148220 single base substitution T C synonymous_variant Y440Y 1320T>C LUSC-KR X 118148220 118148220 single base substitution T C synonymous_variant Y634Y 1902T>C LUSC-KR X 118148220 118148220 single base substitution T C synonymous_variant Y675Y 2025T>C LUSC-KR X 118153312 118153312 single base substitution T C downstream_gene_variant LUSC-US X 118109537 118109537 single base substitution A T exon_variant LUSC-US X 118109537 118109537 single base substitution A T missense_variant K265M 794A>T LUSC-US X 118109537 118109537 single base substitution A T missense_variant K71M 212A>T LUSC-US X 118109537 118109537 single base substitution A T upstream_gene_variant LUSC-US X 118116786 118116786 single base substitution A T intron_variant LUSC-US X 118116786 118116786 single base substitution A T splice_region_variant LUSC-US X 118123389 118123389 single base substitution C T exon_variant LUSC-US X 118123389 118123389 single base substitution C T missense_variant H104Y 310C>T LUSC-US X 118123389 118123389 single base substitution C T missense_variant H125Y 373C>T LUSC-US X 118123389 118123389 single base substitution C T missense_variant H319Y 955C>T LUSC-US X 118123389 118123389 single base substitution C T missense_variant H360Y 1078C>T LUSC-US X 118124510 118124510 single base substitution G A exon_variant LUSC-US X 118124510 118124510 single base substitution G A missense_variant A212T 634G>A LUSC-US X 118124510 118124510 single base substitution G A missense_variant A233T 697G>A LUSC-US X 118124510 118124510 single base substitution G A missense_variant A427T 1279G>A LUSC-US X 118124510 118124510 single base substitution G A missense_variant A468T 1402G>A LUSC-US X 118143099 118143099 single base substitution C G exon_variant LUSC-US X 118143099 118143099 single base substitution C G stop_gained S258* 773C>G LUSC-US X 118143099 118143099 single base substitution C G stop_gained S279* 836C>G LUSC-US X 118143099 118143099 single base substitution C G stop_gained S473* 1418C>G LUSC-US X 118143099 118143099 single base substitution C G stop_gained S514* 1541C>G LUSC-US X 118147105 118147105 single base substitution C T 3_prime_UTR_variant LUSC-US X 118147105 118147105 single base substitution C T exon_variant LUSC-US X 118147105 118147105 single base substitution C T missense_variant H383Y 1147C>T LUSC-US X 118147105 118147105 single base substitution C T missense_variant H404Y 1210C>T LUSC-US X 118147105 118147105 single base substitution C T missense_variant H598Y 1792C>T LUSC-US X 118147105 118147105 single base substitution C T missense_variant H639Y 1915C>T MALY-DE X 118104854 118104854 single base substitution G T upstream_gene_variant MALY-DE X 118106413 118106413 single base substitution T A upstream_gene_variant MALY-DE X 118107360 118107360 single base substitution C T upstream_gene_variant MALY-DE X 118119133 118119133 single base substitution G T intron_variant MALY-DE X 118121149 118121149 single base substitution A C intron_variant MALY-DE X 118134110 118134110 single base substitution C G intron_variant MALY-DE X 118144284 118144284 single base substitution A G intron_variant MALY-DE X 118150454 118150454 single base substitution A C intron_variant MALY-DE X 118151174 118151174 single base substitution G A intron_variant MALY-DE X 118154433 118154434 deletion of <=200bp TG - downstream_gene_variant MELA-AU X 118103630 118103630 single base substitution G A upstream_gene_variant MELA-AU X 118103938 118103938 single base substitution C T upstream_gene_variant MELA-AU X 118103985 118103985 deletion of <=200bp T - upstream_gene_variant MELA-AU X 118104216 118104216 single base substitution C T upstream_gene_variant MELA-AU X 118104217 118104217 single base substitution C T upstream_gene_variant MELA-AU X 118104226 118104226 single base substitution G A upstream_gene_variant MELA-AU X 118104227 118104227 single base substitution G A upstream_gene_variant MELA-AU X 118105201 118105201 single base substitution G A upstream_gene_variant MELA-AU X 118105215 118105215 single base substitution C T upstream_gene_variant MELA-AU X 118105344 118105344 insertion of <=200bp - A upstream_gene_variant MELA-AU X 118105364 118105364 single base substitution G A upstream_gene_variant MELA-AU X 118105456 118105456 single base substitution A T upstream_gene_variant MELA-AU X 118106135 118106135 single base substitution G A upstream_gene_variant MELA-AU X 118106632 118106632 single base substitution C T upstream_gene_variant MELA-AU X 118106840 118106840 single base substitution G A upstream_gene_variant MELA-AU X 118106939 118106939 single base substitution C T upstream_gene_variant MELA-AU X 118106973 118106973 single base substitution C T upstream_gene_variant MELA-AU X 118107216 118107216 single base substitution C T upstream_gene_variant MELA-AU X 118107502 118107502 single base substitution C T upstream_gene_variant MELA-AU X 118107577 118107577 single base substitution G A upstream_gene_variant MELA-AU X 118107831 118107831 single base substitution G A upstream_gene_variant MELA-AU X 118108039 118108039 single base substitution A G upstream_gene_variant MELA-AU X 118108178 118108178 single base substitution G A upstream_gene_variant MELA-AU X 118108329 118108329 single base substitution G A upstream_gene_variant MELA-AU X 118108556 118108556 single base substitution A T upstream_gene_variant MELA-AU X 118108761 118108761 single base substitution C T exon_variant MELA-AU X 118108761 118108761 single base substitution C T synonymous_variant I6I 18C>T MELA-AU X 118108761 118108761 single base substitution C T upstream_gene_variant MELA-AU X 118110443 118110443 single base substitution C T 5_prime_UTR_variant MELA-AU X 118110443 118110443 single base substitution C T exon_variant MELA-AU X 118110443 118110443 single base substitution C T intron_variant MELA-AU X 118111221 118111221 single base substitution G A intron_variant MELA-AU X 118111263 118111263 single base substitution T C intron_variant MELA-AU X 118111497 118111497 single base substitution G A intron_variant MELA-AU X 118111870 118111870 single base substitution G A intron_variant MELA-AU X 118112269 118112269 single base substitution G A intron_variant MELA-AU X 118112291 118112291 single base substitution C T intron_variant MELA-AU X 118112865 118112865 single base substitution A C intron_variant MELA-AU X 118112909 118112909 single base substitution C T intron_variant MELA-AU X 118113032 118113032 single base substitution C T intron_variant MELA-AU X 118114169 118114169 single base substitution C T intron_variant MELA-AU X 118114391 118114391 single base substitution G A intron_variant MELA-AU X 118114802 118114802 single base substitution G T intron_variant MELA-AU X 118116015 118116015 single base substitution C T intron_variant MELA-AU X 118116465 118116466 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 118117010 118117010 single base substitution C T intron_variant MELA-AU X 118118021 118118021 single base substitution G A intron_variant MELA-AU X 118118746 118118746 single base substitution G A intron_variant MELA-AU X 118118841 118118841 single base substitution G A intron_variant MELA-AU X 118118942 118118942 single base substitution C T intron_variant MELA-AU X 118119183 118119183 single base substitution C T intron_variant MELA-AU X 118119336 118119336 single base substitution G T intron_variant MELA-AU X 118119360 118119360 single base substitution G A intron_variant MELA-AU X 118119606 118119606 single base substitution T C intron_variant MELA-AU X 118119869 118119869 single base substitution C T intron_variant MELA-AU X 118119904 118119904 single base substitution C T intron_variant MELA-AU X 118119978 118119978 single base substitution C T intron_variant MELA-AU X 118120195 118120195 single base substitution C T intron_variant MELA-AU X 118120777 118120777 single base substitution C G intron_variant MELA-AU X 118120857 118120857 deletion of <=200bp A - intron_variant MELA-AU X 118120983 118120984 multiple base substitution (>=2bp and <=200bp) GG AT exon_variant MELA-AU X 118120983 118120984 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU X 118120983 118120984 multiple base substitution (>=2bp and <=200bp) GG AT stop_gained KE77K* MELA-AU X 118121279 118121279 single base substitution C T intron_variant MELA-AU X 118121588 118121588 single base substitution G A intron_variant MELA-AU X 118121591 118121591 single base substitution A G intron_variant MELA-AU X 118122040 118122040 single base substitution G A intron_variant MELA-AU X 118122560 118122560 single base substitution T C intron_variant MELA-AU X 118122602 118122602 single base substitution G A intron_variant MELA-AU X 118123050 118123050 single base substitution G A intron_variant MELA-AU X 118123356 118123356 single base substitution C T intron_variant MELA-AU X 118123853 118123853 single base substitution T C intron_variant MELA-AU X 118123882 118123882 single base substitution C T intron_variant MELA-AU X 118123909 118123909 single base substitution C T intron_variant MELA-AU X 118123935 118123935 single base substitution C T intron_variant MELA-AU X 118124414 118124414 single base substitution C T intron_variant MELA-AU X 118124752 118124752 single base substitution G A intron_variant MELA-AU X 118124853 118124853 single base substitution C T intron_variant MELA-AU X 118125024 118125024 single base substitution T C intron_variant MELA-AU X 118125292 118125292 single base substitution C T intron_variant MELA-AU X 118125489 118125489 single base substitution C T intron_variant MELA-AU X 118125883 118125883 single base substitution C T intron_variant MELA-AU X 118125911 118125911 single base substitution T C intron_variant MELA-AU X 118126719 118126719 single base substitution C A intron_variant MELA-AU X 118126857 118126857 single base substitution G T intron_variant MELA-AU X 118126888 118126888 single base substitution C T intron_variant MELA-AU X 118126925 118126925 single base substitution A C intron_variant MELA-AU X 118127086 118127086 single base substitution C A intron_variant MELA-AU X 118127255 118127255 single base substitution G A intron_variant MELA-AU X 118127473 118127473 single base substitution T A intron_variant MELA-AU X 118127545 118127545 single base substitution C T intron_variant MELA-AU X 118127591 118127591 single base substitution C T intron_variant MELA-AU X 118127801 118127801 single base substitution C T intron_variant MELA-AU X 118128156 118128156 single base substitution C T intron_variant MELA-AU X 118128298 118128298 single base substitution G A intron_variant MELA-AU X 118128922 118128922 single base substitution G A intron_variant MELA-AU X 118129103 118129103 single base substitution C T intron_variant MELA-AU X 118129327 118129327 single base substitution C T intron_variant MELA-AU X 118129738 118129738 single base substitution C T intron_variant MELA-AU X 118129937 118129937 single base substitution C T intron_variant MELA-AU X 118130937 118130937 single base substitution A G intron_variant MELA-AU X 118131010 118131010 single base substitution G A intron_variant MELA-AU X 118131128 118131128 single base substitution G A intron_variant MELA-AU X 118131194 118131194 single base substitution G A intron_variant MELA-AU X 118131344 118131344 single base substitution C T intron_variant MELA-AU X 118131628 118131628 single base substitution G A intron_variant MELA-AU X 118132072 118132072 single base substitution C T intron_variant MELA-AU X 118132073 118132073 single base substitution C T intron_variant MELA-AU X 118132099 118132099 single base substitution G A intron_variant MELA-AU X 118132436 118132436 single base substitution G A intron_variant MELA-AU X 118132624 118132624 single base substitution A G intron_variant MELA-AU X 118132762 118132762 single base substitution C T intron_variant MELA-AU X 118132822 118132822 single base substitution C T intron_variant MELA-AU X 118132881 118132881 single base substitution C T intron_variant MELA-AU X 118133296 118133296 single base substitution C T intron_variant MELA-AU X 118133534 118133534 single base substitution C T intron_variant MELA-AU X 118134125 118134125 single base substitution G A intron_variant MELA-AU X 118134485 118134485 single base substitution T C intron_variant MELA-AU X 118134826 118134826 single base substitution C T intron_variant MELA-AU X 118134847 118134847 single base substitution C T intron_variant MELA-AU X 118135137 118135137 single base substitution C T intron_variant MELA-AU X 118135148 118135148 single base substitution C T intron_variant MELA-AU X 118135193 118135193 single base substitution G A intron_variant MELA-AU X 118135567 118135567 single base substitution G A intron_variant MELA-AU X 118136343 118136343 single base substitution C T intron_variant MELA-AU X 118137294 118137294 single base substitution C T intron_variant MELA-AU X 118137516 118137516 single base substitution G A intron_variant MELA-AU X 118137664 118137664 single base substitution C T intron_variant MELA-AU X 118137778 118137778 single base substitution C T intron_variant MELA-AU X 118138351 118138351 single base substitution G A intron_variant MELA-AU X 118138352 118138352 single base substitution G A intron_variant MELA-AU X 118138606 118138606 single base substitution C T intron_variant MELA-AU X 118138759 118138759 single base substitution G A intron_variant MELA-AU X 118139738 118139738 single base substitution T C intron_variant MELA-AU X 118140241 118140241 single base substitution C T intron_variant MELA-AU X 118140486 118140486 single base substitution C T intron_variant MELA-AU X 118140907 118140907 single base substitution G A intron_variant MELA-AU X 118141641 118141641 single base substitution T C intron_variant MELA-AU X 118141993 118141993 single base substitution C T intron_variant MELA-AU X 118141994 118141995 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 118142915 118142915 single base substitution G A intron_variant MELA-AU X 118143158 118143158 single base substitution G A exon_variant MELA-AU X 118143158 118143158 single base substitution G A missense_variant E278K 832G>A MELA-AU X 118143158 118143158 single base substitution G A missense_variant E299K 895G>A MELA-AU X 118143158 118143158 single base substitution G A missense_variant E493K 1477G>A MELA-AU X 118143158 118143158 single base substitution G A missense_variant E534K 1600G>A MELA-AU X 118143167 118143167 single base substitution G A exon_variant MELA-AU X 118143167 118143167 single base substitution G A missense_variant E281K 841G>A MELA-AU X 118143167 118143167 single base substitution G A missense_variant E302K 904G>A MELA-AU X 118143167 118143167 single base substitution G A missense_variant E496K 1486G>A MELA-AU X 118143167 118143167 single base substitution G A missense_variant E537K 1609G>A MELA-AU X 118143442 118143442 single base substitution G A intron_variant MELA-AU X 118143446 118143447 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 118143975 118143975 single base substitution C T intron_variant MELA-AU X 118144905 118144905 single base substitution C T intron_variant MELA-AU X 118145575 118145575 single base substitution G A intron_variant MELA-AU X 118145822 118145822 single base substitution C T exon_variant MELA-AU X 118145822 118145822 single base substitution C T missense_variant P310L 929C>T MELA-AU X 118145822 118145822 single base substitution C T missense_variant P331L 992C>T MELA-AU X 118145822 118145822 single base substitution C T missense_variant P525L 1574C>T MELA-AU X 118145822 118145822 single base substitution C T missense_variant P566L 1697C>T MELA-AU X 118145904 118145904 single base substitution G A exon_variant MELA-AU X 118145904 118145904 single base substitution G A synonymous_variant Q337Q 1011G>A MELA-AU X 118145904 118145904 single base substitution G A synonymous_variant Q358Q 1074G>A MELA-AU X 118145904 118145904 single base substitution G A synonymous_variant Q552Q 1656G>A MELA-AU X 118145904 118145904 single base substitution G A synonymous_variant Q593Q 1779G>A MELA-AU X 118145926 118145926 single base substitution C T exon_variant MELA-AU X 118145926 118145926 single base substitution C T missense_variant P345S 1033C>T MELA-AU X 118145926 118145926 single base substitution C T missense_variant P366S 1096C>T MELA-AU X 118145926 118145926 single base substitution C T missense_variant P560S 1678C>T MELA-AU X 118145926 118145926 single base substitution C T missense_variant P601S 1801C>T MELA-AU X 118146164 118146164 single base substitution T A intron_variant MELA-AU X 118146510 118146510 single base substitution A T intron_variant MELA-AU X 118147891 118147891 single base substitution C T intron_variant MELA-AU X 118147892 118147892 single base substitution C T intron_variant MELA-AU X 118148070 118148070 single base substitution G A intron_variant MELA-AU X 118148900 118148900 single base substitution C T intron_variant MELA-AU X 118149072 118149072 single base substitution C T intron_variant MELA-AU X 118149078 118149078 single base substitution A G intron_variant MELA-AU X 118149220 118149220 single base substitution C T intron_variant MELA-AU X 118149387 118149387 single base substitution C T intron_variant MELA-AU X 118149417 118149418 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 118150594 118150594 single base substitution C T intron_variant MELA-AU X 118150599 118150599 single base substitution T G intron_variant MELA-AU X 118151099 118151099 single base substitution C T intron_variant MELA-AU X 118151310 118151310 single base substitution A C intron_variant MELA-AU X 118151405 118151405 single base substitution C T intron_variant MELA-AU X 118151543 118151543 single base substitution C T 3_prime_UTR_variant MELA-AU X 118151543 118151543 single base substitution C T exon_variant MELA-AU X 118151543 118151543 single base substitution C T missense_variant L468F 1402C>T MELA-AU X 118151543 118151543 single base substitution C T missense_variant L489F 1465C>T MELA-AU X 118151543 118151543 single base substitution C T missense_variant L683F 2047C>T MELA-AU X 118151543 118151543 single base substitution C T missense_variant L724F 2170C>T MELA-AU X 118151837 118151837 single base substitution T G 3_prime_UTR_variant MELA-AU X 118151837 118151837 single base substitution T G exon_variant MELA-AU X 118152246 118152246 single base substitution G A 3_prime_UTR_variant MELA-AU X 118152246 118152246 single base substitution G A downstream_gene_variant MELA-AU X 118152892 118152892 single base substitution G A downstream_gene_variant MELA-AU X 118153700 118153700 single base substitution C T downstream_gene_variant MELA-AU X 118154377 118154377 single base substitution C T downstream_gene_variant MELA-AU X 118154390 118154390 single base substitution C T downstream_gene_variant MELA-AU X 118154527 118154527 single base substitution C T downstream_gene_variant MELA-AU X 118154842 118154842 single base substitution C T downstream_gene_variant MELA-AU X 118155245 118155245 single base substitution C T downstream_gene_variant MELA-AU X 118155634 118155634 single base substitution C T downstream_gene_variant MELA-AU X 118156012 118156012 single base substitution G A downstream_gene_variant MELA-AU X 118156268 118156268 single base substitution C T downstream_gene_variant MELA-AU X 118156755 118156755 single base substitution G A downstream_gene_variant MELA-AU X 118156877 118156877 single base substitution C T downstream_gene_variant MELA-AU X 118157287 118157287 single base substitution C T downstream_gene_variant ORCA-IN X 118134512 118134512 single base substitution C T intron_variant ORCA-IN X 118142956 118142956 single base substitution G T intron_variant ORCA-IN X 118145794 118145794 single base substitution C A exon_variant ORCA-IN X 118145794 118145794 single base substitution C A missense_variant P301T 901C>A ORCA-IN X 118145794 118145794 single base substitution C A missense_variant P322T 964C>A ORCA-IN X 118145794 118145794 single base substitution C A missense_variant P516T 1546C>A ORCA-IN X 118145794 118145794 single base substitution C A missense_variant P557T 1669C>A ORCA-IN X 118145826 118145826 single base substitution C T exon_variant ORCA-IN X 118145826 118145826 single base substitution C T synonymous_variant T311T 933C>T ORCA-IN X 118145826 118145826 single base substitution C T synonymous_variant T332T 996C>T ORCA-IN X 118145826 118145826 single base substitution C T synonymous_variant T526T 1578C>T ORCA-IN X 118145826 118145826 single base substitution C T synonymous_variant T567T 1701C>T OV-AU X 118105118 118105118 single base substitution A C upstream_gene_variant OV-AU X 118107468 118107468 single base substitution C A upstream_gene_variant OV-AU X 118109240 118109240 single base substitution C G exon_variant OV-AU X 118109240 118109240 single base substitution C G stop_gained S166* 497C>G OV-AU X 118109240 118109240 single base substitution C G upstream_gene_variant OV-AU X 118111026 118111026 single base substitution G T intron_variant OV-AU X 118113758 118113758 single base substitution T A intron_variant OV-AU X 118117933 118117933 single base substitution G A intron_variant OV-AU X 118121142 118121142 single base substitution A T intron_variant OV-AU X 118130102 118130102 single base substitution T C intron_variant OV-AU X 118140709 118140709 single base substitution G A intron_variant OV-AU X 118140965 118140965 single base substitution G T intron_variant OV-AU X 118142690 118142690 single base substitution C A intron_variant OV-AU X 118147000 118147000 single base substitution A T 3_prime_UTR_variant OV-AU X 118147000 118147000 single base substitution A T exon_variant OV-AU X 118147000 118147000 single base substitution A T splice_acceptor_variant OV-AU X 118149281 118149281 single base substitution G T intron_variant OV-AU X 118149640 118149640 single base substitution G A intron_variant OV-AU X 118151065 118151065 single base substitution C T intron_variant OV-AU X 118152395 118152395 single base substitution A G downstream_gene_variant OV-AU X 118154279 118154279 single base substitution A G downstream_gene_variant OV-AU X 118154581 118154581 single base substitution A T downstream_gene_variant OV-AU X 118155206 118155206 single base substitution G T downstream_gene_variant OV-AU X 118155984 118155984 single base substitution G C downstream_gene_variant PACA-AU X 118104209 118104209 deletion of <=200bp T - upstream_gene_variant PACA-AU X 118104234 118104234 single base substitution G C upstream_gene_variant PACA-AU X 118108092 118108092 single base substitution G T upstream_gene_variant PACA-AU X 118109397 118109399 deletion of <=200bp GCC - exon_variant PACA-AU X 118109397 118109399 deletion of <=200bp GCC - inframe_deletion QP218Q PACA-AU X 118109397 118109399 deletion of <=200bp GCC - inframe_deletion QP24Q PACA-AU X 118109397 118109399 deletion of <=200bp GCC - upstream_gene_variant PACA-AU X 118109934 118109934 single base substitution T C intron_variant PACA-AU X 118109934 118109934 single base substitution T C upstream_gene_variant PACA-AU X 118114719 118114719 single base substitution T A intron_variant PACA-AU X 118117425 118117425 single base substitution A C intron_variant PACA-AU X 118124542 118124542 single base substitution C G intron_variant PACA-AU X 118128992 118128992 single base substitution G A intron_variant PACA-AU X 118141014 118141014 single base substitution C A intron_variant PACA-AU X 118150319 118150319 single base substitution T C intron_variant PACA-AU X 118155755 118155755 single base substitution G T downstream_gene_variant PACA-AU X 118155770 118155770 single base substitution G A downstream_gene_variant PACA-CA X 118104776 118104776 single base substitution G C upstream_gene_variant PACA-CA X 118106197 118106197 single base substitution C T upstream_gene_variant PACA-CA X 118109083 118109083 deletion of <=200bp A - exon_variant PACA-CA X 118109083 118109083 deletion of <=200bp A - frameshift_variant K114 PACA-CA X 118109083 118109083 deletion of <=200bp A - upstream_gene_variant PACA-CA X 118112106 118112106 single base substitution T C intron_variant PACA-CA X 118117166 118117166 single base substitution G T intron_variant PACA-CA X 118127051 118127051 single base substitution G A intron_variant PACA-CA X 118127941 118127941 single base substitution G T intron_variant PACA-CA X 118128092 118128092 single base substitution C G intron_variant PACA-CA X 118128385 118128385 single base substitution G T intron_variant PACA-CA X 118130408 118130408 single base substitution C T intron_variant PACA-CA X 118142679 118142679 single base substitution C A intron_variant PACA-CA X 118144970 118144970 single base substitution A G intron_variant PACA-CA X 118150612 118150612 single base substitution G T intron_variant PACA-CA X 118151605 118151605 single base substitution G A 3_prime_UTR_variant PACA-CA X 118151605 118151605 single base substitution G A exon_variant PACA-CA X 118151605 118151605 single base substitution G A synonymous_variant L488L 1464G>A PACA-CA X 118151605 118151605 single base substitution G A synonymous_variant L509L 1527G>A PACA-CA X 118151605 118151605 single base substitution G A synonymous_variant L703L 2109G>A PACA-CA X 118151605 118151605 single base substitution G A synonymous_variant L744L 2232G>A PACA-CA X 118156616 118156616 single base substitution T C downstream_gene_variant PAEN-AU X 118108090 118108090 single base substitution T G upstream_gene_variant PAEN-AU X 118112992 118112992 single base substitution T C intron_variant PAEN-AU X 118120667 118120667 single base substitution A G intron_variant PBCA-DE X 118104747 118104747 single base substitution C A upstream_gene_variant PBCA-DE X 118106925 118106926 deletion of <=200bp TT - upstream_gene_variant PBCA-DE X 118109116 118109116 deletion of <=200bp C - exon_variant PBCA-DE X 118109116 118109116 deletion of <=200bp C - frameshift_variant P125 PBCA-DE X 118109116 118109116 deletion of <=200bp C - upstream_gene_variant PBCA-DE X 118119689 118119689 single base substitution G T intron_variant PBCA-DE X 118124815 118124815 deletion of <=200bp T - intron_variant PBCA-DE X 118129822 118129822 single base substitution A G intron_variant PBCA-DE X 118132361 118132361 single base substitution G C intron_variant PBCA-DE X 118154433 118154434 deletion of <=200bp TG - downstream_gene_variant PBCA-DE X 118156609 118156609 single base substitution A T downstream_gene_variant PRAD-CA X 118103961 118103961 single base substitution C T upstream_gene_variant PRAD-CA X 118120644 118120644 single base substitution C T intron_variant PRAD-CA X 118134786 118134786 single base substitution C G intron_variant PRAD-CA X 118144483 118144483 single base substitution C T intron_variant PRAD-UK X 118106755 118106755 single base substitution G A upstream_gene_variant PRAD-UK X 118113025 118113025 single base substitution G T intron_variant PRAD-UK X 118137639 118137639 single base substitution G T intron_variant READ-US X 118109149 118109149 single base substitution G A exon_variant READ-US X 118109149 118109149 single base substitution G A missense_variant V136M 406G>A READ-US X 118109149 118109149 single base substitution G A upstream_gene_variant READ-US X 118109387 118109387 single base substitution C T exon_variant READ-US X 118109387 118109387 single base substitution C T missense_variant A215V 644C>T READ-US X 118109387 118109387 single base substitution C T missense_variant A21V 62C>T READ-US X 118109387 118109387 single base substitution C T upstream_gene_variant RECA-EU X 118134898 118134898 single base substitution T G intron_variant RECA-EU X 118151581 118151581 single base substitution A T 3_prime_UTR_variant RECA-EU X 118151581 118151581 single base substitution A T exon_variant RECA-EU X 118151581 118151581 single base substitution A T synonymous_variant A480A 1440A>T RECA-EU X 118151581 118151581 single base substitution A T synonymous_variant A501A 1503A>T RECA-EU X 118151581 118151581 single base substitution A T synonymous_variant A695A 2085A>T RECA-EU X 118151581 118151581 single base substitution A T synonymous_variant A736A 2208A>T RECA-EU X 118152047 118152047 single base substitution T C 3_prime_UTR_variant RECA-EU X 118152047 118152047 single base substitution T C downstream_gene_variant SKCA-BR X 118103807 118103816 deletion of <=200bp CTTTTTTTTT - upstream_gene_variant SKCA-BR X 118103905 118103905 single base substitution C T upstream_gene_variant SKCA-BR X 118110318 118110318 single base substitution A G 5_prime_UTR_variant SKCA-BR X 118110318 118110318 single base substitution A G exon_variant SKCA-BR X 118110318 118110318 single base substitution A G intron_variant SKCA-BR X 118114022 118114022 single base substitution C T intron_variant SKCA-BR X 118116417 118116417 single base substitution G A intron_variant SKCA-BR X 118118162 118118162 single base substitution C T intron_variant SKCA-BR X 118120742 118120742 single base substitution G T intron_variant SKCA-BR X 118120753 118120753 single base substitution T C intron_variant SKCA-BR X 118120821 118120821 single base substitution C T intron_variant SKCA-BR X 118120877 118120877 single base substitution T G intron_variant SKCA-BR X 118122572 118122572 single base substitution G A intron_variant SKCA-BR X 118125054 118125054 single base substitution C T intron_variant SKCA-BR X 118126099 118126099 single base substitution A G intron_variant SKCA-BR X 118126450 118126450 single base substitution C T intron_variant SKCA-BR X 118127084 118127084 insertion of <=200bp - CCA intron_variant SKCA-BR X 118129421 118129421 single base substitution C T intron_variant SKCA-BR X 118130884 118130885 deletion of <=200bp CA - intron_variant SKCA-BR X 118132430 118132430 single base substitution G A intron_variant SKCA-BR X 118132866 118132866 single base substitution A C intron_variant SKCA-BR X 118134923 118134923 single base substitution G A intron_variant SKCA-BR X 118140378 118140378 single base substitution T G intron_variant SKCA-BR X 118140531 118140536 deletion of <=200bp TTTTTG - intron_variant SKCA-BR X 118140992 118140992 single base substitution C T intron_variant SKCA-BR X 118140999 118140999 single base substitution C A intron_variant SKCA-BR X 118142760 118142760 single base substitution C T intron_variant SKCA-BR X 118142761 118142761 single base substitution C T intron_variant SKCA-BR X 118143324 118143324 single base substitution T C intron_variant SKCA-BR X 118148688 118148688 single base substitution G A intron_variant SKCA-BR X 118149606 118149606 single base substitution C T intron_variant SKCA-BR X 118151698 118151698 single base substitution C T 3_prime_UTR_variant SKCA-BR X 118151698 118151698 single base substitution C T exon_variant SKCA-BR X 118155404 118155406 deletion of <=200bp ATG - downstream_gene_variant SKCA-BR X 118155412 118155422 deletion of <=200bp GTGTATATATA - downstream_gene_variant SKCM-US X 118109231 118109231 single base substitution G A exon_variant SKCM-US X 118109231 118109231 single base substitution G A missense_variant G163E 488G>A SKCM-US X 118109231 118109231 single base substitution G A upstream_gene_variant SKCM-US X 118123394 118123394 single base substitution T C exon_variant SKCM-US X 118123394 118123394 single base substitution T C synonymous_variant C105C 315T>C SKCM-US X 118123394 118123394 single base substitution T C synonymous_variant C126C 378T>C SKCM-US X 118123394 118123394 single base substitution T C synonymous_variant C320C 960T>C SKCM-US X 118123394 118123394 single base substitution T C synonymous_variant C361C 1083T>C SKCM-US X 118123396 118123396 single base substitution C T exon_variant SKCM-US X 118123396 118123396 single base substitution C T missense_variant S106F 317C>T SKCM-US X 118123396 118123396 single base substitution C T missense_variant S127F 380C>T SKCM-US X 118123396 118123396 single base substitution C T missense_variant S321F 962C>T SKCM-US X 118123396 118123396 single base substitution C T missense_variant S362F 1085C>T SKCM-US X 118140157 118140157 single base substitution C T exon_variant SKCM-US X 118140157 118140157 single base substitution C T missense_variant H241Y 721C>T SKCM-US X 118140157 118140157 single base substitution C T missense_variant H262Y 784C>T SKCM-US X 118140157 118140157 single base substitution C T missense_variant H456Y 1366C>T SKCM-US X 118140157 118140157 single base substitution C T missense_variant H497Y 1489C>T SKCM-US X 118145875 118145875 single base substitution C T exon_variant SKCM-US X 118145875 118145875 single base substitution C T missense_variant R328C 982C>T SKCM-US X 118145875 118145875 single base substitution C T missense_variant R349C 1045C>T SKCM-US X 118145875 118145875 single base substitution C T missense_variant R543C 1627C>T SKCM-US X 118145875 118145875 single base substitution C T missense_variant R584C 1750C>T SKCM-US X 118147032 118147032 single base substitution C T 3_prime_UTR_variant SKCM-US X 118147032 118147032 single base substitution C T exon_variant SKCM-US X 118147032 118147032 single base substitution C T synonymous_variant I358I 1074C>T SKCM-US X 118147032 118147032 single base substitution C T synonymous_variant I379I 1137C>T SKCM-US X 118147032 118147032 single base substitution C T synonymous_variant I573I 1719C>T SKCM-US X 118147032 118147032 single base substitution C T synonymous_variant I614I 1842C>T SKCM-US X 118148314 118148314 single base substitution C T 3_prime_UTR_variant SKCM-US X 118148314 118148314 single base substitution C T exon_variant SKCM-US X 118148314 118148314 single base substitution C T missense_variant P451S 1351C>T SKCM-US X 118148314 118148314 single base substitution C T missense_variant P472S 1414C>T SKCM-US X 118148314 118148314 single base substitution C T missense_variant P666S 1996C>T SKCM-US X 118148314 118148314 single base substitution C T missense_variant P707S 2119C>T SKCM-US X 118151559 118151559 single base substitution G A 3_prime_UTR_variant SKCM-US X 118151559 118151559 single base substitution G A exon_variant SKCM-US X 118151559 118151559 single base substitution G A missense_variant R473Q 1418G>A SKCM-US X 118151559 118151559 single base substitution G A missense_variant R494Q 1481G>A SKCM-US X 118151559 118151559 single base substitution G A missense_variant R688Q 2063G>A SKCM-US X 118151559 118151559 single base substitution G A missense_variant R729Q 2186G>A SKCM-US X 118151570 118151570 single base substitution C T 3_prime_UTR_variant SKCM-US X 118151570 118151570 single base substitution C T exon_variant SKCM-US X 118151570 118151570 single base substitution C T missense_variant P477S 1429C>T SKCM-US X 118151570 118151570 single base substitution C T missense_variant P498S 1492C>T SKCM-US X 118151570 118151570 single base substitution C T missense_variant P692S 2074C>T SKCM-US X 118151570 118151570 single base substitution C T missense_variant P733S 2197C>T STAD-US X 118109314 118109314 single base substitution C T exon_variant STAD-US X 118109314 118109314 single base substitution C T missense_variant R191C 571C>T STAD-US X 118109314 118109314 single base substitution C T upstream_gene_variant STAD-US X 118123421 118123421 single base substitution G T exon_variant STAD-US X 118123421 118123421 single base substitution G T missense_variant R114S 342G>T STAD-US X 118123421 118123421 single base substitution G T missense_variant R135S 405G>T STAD-US X 118123421 118123421 single base substitution G T missense_variant R329S 987G>T STAD-US X 118123421 118123421 single base substitution G T missense_variant R370S 1110G>T STAD-US X 118145831 118145831 single base substitution C A exon_variant STAD-US X 118145831 118145831 single base substitution C A missense_variant P313H 938C>A STAD-US X 118145831 118145831 single base substitution C A missense_variant P334H 1001C>A STAD-US X 118145831 118145831 single base substitution C A missense_variant P528H 1583C>A STAD-US X 118145831 118145831 single base substitution C A missense_variant P569H 1706C>A STAD-US X 118147118 118147118 single base substitution G A 3_prime_UTR_variant STAD-US X 118147118 118147118 single base substitution G A exon_variant STAD-US X 118147118 118147118 single base substitution G A missense_variant R387Q 1160G>A STAD-US X 118147118 118147118 single base substitution G A missense_variant R408Q 1223G>A STAD-US X 118147118 118147118 single base substitution G A missense_variant R602Q 1805G>A STAD-US X 118147118 118147118 single base substitution G A missense_variant R643Q 1928G>A UCEC-US X 118112308 118112308 single base substitution C T missense_variant A273V 818C>T UCEC-US X 118112308 118112308 single base substitution C T missense_variant A79V 236C>T UCEC-US X 118112308 118112308 single base substitution C T splice_region_variant UCEC-US X 118116815 118116815 single base substitution C T exon_variant UCEC-US X 118116815 118116815 single base substitution C T intron_variant UCEC-US X 118116815 118116815 single base substitution C T missense_variant T15I 44C>T UCEC-US X 118116815 118116815 single base substitution C T missense_variant T323I 968C>T UCEC-US X 118116845 118116845 single base substitution A G exon_variant UCEC-US X 118116845 118116845 single base substitution A G intron_variant UCEC-US X 118116845 118116845 single base substitution A G missense_variant E25G 74A>G UCEC-US X 118116845 118116845 single base substitution A G missense_variant E333G 998A>G UCEC-US X 118123508 118123508 single base substitution G A exon_variant UCEC-US X 118123508 118123508 single base substitution G A synonymous_variant E143E 429G>A UCEC-US X 118123508 118123508 single base substitution G A synonymous_variant E164E 492G>A UCEC-US X 118123508 118123508 single base substitution G A synonymous_variant E358E 1074G>A UCEC-US X 118123508 118123508 single base substitution G A synonymous_variant E399E 1197G>A UCEC-US X 118123614 118123614 single base substitution C T exon_variant UCEC-US X 118123614 118123614 single base substitution C T missense_variant P179S 535C>T UCEC-US X 118123614 118123614 single base substitution C T missense_variant P200S 598C>T UCEC-US X 118123614 118123614 single base substitution C T missense_variant P394S 1180C>T UCEC-US X 118123614 118123614 single base substitution C T missense_variant P435S 1303C>T UCEC-US X 118124488 118124488 single base substitution C T exon_variant UCEC-US X 118124488 118124488 single base substitution C T synonymous_variant F204F 612C>T UCEC-US X 118124488 118124488 single base substitution C T synonymous_variant F225F 675C>T UCEC-US X 118124488 118124488 single base substitution C T synonymous_variant F419F 1257C>T UCEC-US X 118124488 118124488 single base substitution C T synonymous_variant F460F 1380C>T UCEC-US X 118143158 118143158 single base substitution G T exon_variant UCEC-US X 118143158 118143158 single base substitution G T stop_gained E278* 832G>T UCEC-US X 118143158 118143158 single base substitution G T stop_gained E299* 895G>T UCEC-US X 118143158 118143158 single base substitution G T stop_gained E493* 1477G>T UCEC-US X 118143158 118143158 single base substitution G T stop_gained E534* 1600G>T UCEC-US X 118145842 118145842 single base substitution C T exon_variant UCEC-US X 118145842 118145842 single base substitution C T missense_variant H317Y 949C>T UCEC-US X 118145842 118145842 single base substitution C T missense_variant H338Y 1012C>T UCEC-US X 118145842 118145842 single base substitution C T missense_variant H532Y 1594C>T UCEC-US X 118145842 118145842 single base substitution C T missense_variant H573Y 1717C>T UCEC-US X 118145871 118145871 single base substitution G T exon_variant UCEC-US X 118145871 118145871 single base substitution G T missense_variant M326I 978G>T UCEC-US X 118145871 118145871 single base substitution G T missense_variant M347I 1041G>T UCEC-US X 118145871 118145871 single base substitution G T missense_variant M541I 1623G>T UCEC-US X 118145871 118145871 single base substitution G T missense_variant M582I 1746G>T UCEC-US X 118145877 118145877 single base substitution T C exon_variant UCEC-US X 118145877 118145877 single base substitution T C synonymous_variant R328R 984T>C UCEC-US X 118145877 118145877 single base substitution T C synonymous_variant R349R 1047T>C UCEC-US X 118145877 118145877 single base substitution T C synonymous_variant R543R 1629T>C UCEC-US X 118145877 118145877 single base substitution T C synonymous_variant R584R 1752T>C UCEC-US X 118145885 118145885 single base substitution T G exon_variant UCEC-US X 118145885 118145885 single base substitution T G missense_variant I331S 992T>G UCEC-US X 118145885 118145885 single base substitution T G missense_variant I352S 1055T>G UCEC-US X 118145885 118145885 single base substitution T G missense_variant I546S 1637T>G UCEC-US X 118145885 118145885 single base substitution T G missense_variant I587S 1760T>G UCEC-US X 118145893 118145893 single base substitution G A exon_variant UCEC-US X 118145893 118145893 single base substitution G A missense_variant G334S 1000G>A UCEC-US X 118145893 118145893 single base substitution G A missense_variant G355S 1063G>A UCEC-US X 118145893 118145893 single base substitution G A missense_variant G549S 1645G>A UCEC-US X 118145893 118145893 single base substitution G A missense_variant G590S 1768G>A UCEC-US X 118147053 118147053 single base substitution T C 3_prime_UTR_variant UCEC-US X 118147053 118147053 single base substitution T C exon_variant UCEC-US X 118147053 118147053 single base substitution T C synonymous_variant A365A 1095T>C UCEC-US X 118147053 118147053 single base substitution T C synonymous_variant A386A 1158T>C UCEC-US X 118147053 118147053 single base substitution T C synonymous_variant A580A 1740T>C UCEC-US X 118147053 118147053 single base substitution T C synonymous_variant A621A 1863T>C UCEC-US X 118148283 118148283 single base substitution C T 3_prime_UTR_variant UCEC-US X 118148283 118148283 single base substitution C T exon_variant UCEC-US X 118148283 118148283 single base substitution C T synonymous_variant H440H 1320C>T UCEC-US X 118148283 118148283 single base substitution C T synonymous_variant H461H 1383C>T UCEC-US X 118148283 118148283 single base substitution C T synonymous_variant H655H 1965C>T UCEC-US X 118148283 118148283 single base substitution C T synonymous_variant H696H 2088C>T UCEC-US X 118148308 118148308 single base substitution G A 3_prime_UTR_variant UCEC-US X 118148308 118148308 single base substitution G A exon_variant UCEC-US X 118148308 118148308 single base substitution G A missense_variant A449T 1345G>A UCEC-US X 118148308 118148308 single base substitution G A missense_variant A470T 1408G>A UCEC-US X 118148308 118148308 single base substitution G A missense_variant A664T 1990G>A UCEC-US X 118148308 118148308 single base substitution G A missense_variant A705T 2113G>A UCEC-US X 118151516 118151516 single base substitution G A 3_prime_UTR_variant UCEC-US X 118151516 118151516 single base substitution G A exon_variant UCEC-US X 118151516 118151516 single base substitution G A missense_variant A459T 1375G>A UCEC-US X 118151516 118151516 single base substitution G A missense_variant A480T 1438G>A UCEC-US X 118151516 118151516 single base substitution G A missense_variant A674T 2020G>A UCEC-US X 118151516 118151516 single base substitution G A missense_variant A715T 2143G>A UCEC-US X 118151556 118151556 single base substitution G T 3_prime_UTR_variant UCEC-US X 118151556 118151556 single base substitution G T exon_variant UCEC-US X 118151556 118151556 single base substitution G T missense_variant S472I 1415G>T UCEC-US X 118151556 118151556 single base substitution G T missense_variant S493I 1478G>T UCEC-US X 118151556 118151556 single base substitution G T missense_variant S687I 2060G>T UCEC-US X 118151556 118151556 single base substitution G T missense_variant S728I 2183G>T UCEC-US X 118151559 118151559 single base substitution G A 3_prime_UTR_variant UCEC-US X 118151559 118151559 single base substitution G A exon_variant UCEC-US X 118151559 118151559 single base substitution G A missense_variant R473Q 1418G>A UCEC-US X 118151559 118151559 single base substitution G A missense_variant R494Q 1481G>A UCEC-US X 118151559 118151559 single base substitution G A missense_variant R688Q 2063G>A UCEC-US X 118151559 118151559 single base substitution G A missense_variant R729Q 2186G>A UCEC-US X 118151586 118151586 single base substitution G A 3_prime_UTR_variant UCEC-US X 118151586 118151586 single base substitution G A exon_variant UCEC-US X 118151586 118151586 single base substitution G A missense_variant R482K 1445G>A UCEC-US X 118151586 118151586 single base substitution G A missense_variant R503K 1508G>A UCEC-US X 118151586 118151586 single base substitution G A missense_variant R697K 2090G>A UCEC-US X 118151586 118151586 single base substitution G A missense_variant R738K 2213G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSCC-20-T COSM4459688 c.1013C>T p.P338L Substitution - Missense 23:118989484-118989484 + B89-12 COSM1756359 c.1961A>G p.N654S Substitution - Missense 23:119014316-119014316 + TCGA-AP-A0LM-01 COSM1598726 c.1197G>A p.E399E Substitution - coding silent 23:118989545-118989545 + TCGA-GN-A26C-01 COSM3557199 c.2197C>T p.P733S Substitution - Missense 23:119017607-119017607 + S00941 COSM5663896 c.371C>A p.A124E Substitution - Missense 23:118975151-118975151 + I2L-P19Ta-Tumor-Biopsy COSM5367019 c.505G>T p.V169L Substitution - Missense 23:118975285-118975285 + TCGA-66-2781-01 COSM754451 c.1792C>T p.H598Y Substitution - Missense 23:119013142-119013142 + TCGA-BR-6452-01 COSM4106129 c.1110G>T p.R370S Substitution - Missense 23:118989458-118989458 + EGC15 COSM5064303 c.1177G>T p.D393Y Substitution - Missense 23:118989525-118989525 + TCGA-B5-A0JZ-01 COSM1113747 c.1594C>T p.H532Y Substitution - Missense 23:119011879-119011879 + TCGA-MH-A561-01 COSM1113758 c.2063G>A p.R688Q Substitution - Missense 23:119017596-119017596 + TCGA-AF-3913-01 COSM287790 c.1736T>A p.F579Y Substitution - Missense 23:119013086-119013086 + TCGA-BS-A0UF-01 COSM1113745 c.1257C>T p.F419F Substitution - coding silent 23:118990525-118990525 + ESCC-147T COSM3939754 c.1986G>T p.E662D Substitution - Missense 23:119014218-119014218 + TCGA-EK-A2R8-01 COSM4822729 c.1149C>A p.C383* Substitution - Nonsense 23:118989620-118989620 + TCGA-BS-A0UV-01 COSM1598788 c.2213G>A p.R738K Substitution - Missense 23:119017623-119017623 + PASFXA COSM2723213 c.765C>T p.R255R Substitution - coding silent 23:118975545-118975545 + TCGA-AA-3672-01 COSM266840 c.2035A>T p.M679L Substitution - Missense 23:119017568-119017568 + TCGA-12-0692-01 COSM3405875 c.154C>T p.R52W Substitution - Missense 23:118974934-118974934 + TCGA-AM-5820-01 COSM1465160 c.365C>G p.A122G Substitution - Missense 23:118975145-118975145 + 31T COSM2723252 c.1701C>T p.T567T Substitution - coding silent 23:119011863-119011863 + QC2-42-T2 COSM5656285 c.1950T>G p.N650K Substitution - Missense 23:119014305-119014305 + C086 COSM5533907 c.1106C>T p.S369F Substitution - Missense 23:118989577-118989577 + TCGA-A5-A0VQ-01 COSM1155229 c.2042G>A p.W681* Substitution - Nonsense 23:119014274-119014274 + YUOTHO COSM5411860 c.2063C>T p.S688F Substitution - Missense 23:119014295-119014295 + PD9606a COSM5772569 c.2124A>G p.R708R Substitution - coding silent 23:119017657-119017657 + Br29P COSM39776 c.100G>A p.D34N Substitution - Missense 23:118974880-118974880 + HCC2998 COSM2723261 c.1852C>A p.Q618K Substitution - Missense 23:119013079-119013079 + TCGA-AP-A059-01 COSM1598728 c.968C>T p.T323I Substitution - Missense 23:118982852-118982852 + ESO-175 COSM1256604 c.2107A>G p.K703E Substitution - Missense 23:119014339-119014339 + TCGA-B5-A11E-01 COSM1113755 c.1990G>A p.A664T Substitution - Missense 23:119014345-119014345 + Pat_45_B COSM5876947 c.1573C>T p.P525S Substitution - Missense 23:119011858-119011858 + HCT15 COSM4633080 c.120G>T p.K40N Substitution - Missense 23:118974900-118974900 + TCGA-AP-A056-01 COSM1598794 c.1768G>A p.G590S Substitution - Missense 23:119011930-119011930 + TCGA-24-2288-01 COSM116273 c.725G>C p.R242P Substitution - Missense 23:118975505-118975505 + TCGA-GN-A26C-01 COSM3557200 c.2074C>T p.P692S Substitution - Missense 23:119017607-119017607 + Pat_76_B COSM5876944 c.1027G>A p.G343R Substitution - Missense 23:118989498-118989498 + TCGA-B0-4700-01 COSM1138050 c.1327C>A p.P443T Substitution - Missense 23:118990472-118990472 + TCGA-A2-A0EY-01 COSM456587 c.1069G>C p.E357Q Substitution - Missense 23:118989540-118989540 + PD4613a COSM5768456 c.192G>A p.T64T Substitution - coding silent 23:118974972-118974972 + TCGA-HU-8602-01 COSM2723268 c.1805G>A p.R602Q Substitution - Missense 23:119013155-119013155 + T3090 COSM4698381 c.919C>T p.R307C Substitution - Missense 23:118978446-118978446 + CHC1743T COSM4805608 c.504C>G p.P168P Substitution - coding silent 23:118975284-118975284 + CSCC-55-T COSM4525112 c.130G>A p.E44K Substitution - Missense 23:118974910-118974910 + TCGA-CL-4957-01 COSM3424384 c.406G>A p.V136M Substitution - Missense 23:118975186-118975186 + LUAD-CHTN-3090415 COSM357452 c.1711C>A p.L571I Substitution - Missense 23:119013061-119013061 + EGC15 COSM5064304 c.1054G>T p.D352Y Substitution - Missense 23:118989525-118989525 + TCGA-BP-4989-01 COSM487859 c.1370A>G p.N457S Substitution - Missense 23:119006198-119006198 + T25 COSM5345862 c.504C>A p.P168P Substitution - coding silent 23:118975284-118975284 + YUOTHO COSM5411861 c.1940C>T p.S647F Substitution - Missense 23:119014295-119014295 + CHEWS012 COSM4589136 c.1557G>C p.V519V Substitution - coding silent 23:119011842-119011842 + TCGA-AP-A0LP-01 COSM1113757 c.2060G>T p.S687I Substitution - Missense 23:119017593-119017593 + TCGA-B5-A11E-01 COSM1598791 c.2113G>A p.A705T Substitution - Missense 23:119014345-119014345 + CSCC-27-T COSM170890 c.1554C>T p.F518F Substitution - coding silent 23:119011839-119011839 + T3080 COSM4698382 c.2112C>T p.D704D Substitution - coding silent 23:119014344-119014344 + TCGA-FP-A4BE-01 COSM4106133 c.1583C>A p.P528H Substitution - Missense 23:119011868-119011868 + TCGA-HJ-7597-01 COSM4106127 c.571C>T p.R191C Substitution - Missense 23:118975351-118975351 + TCGA-12-0692-01 COSM3405874 c.154C>T p.R52W Substitution - Missense 23:118974934-118974934 + TCGA-CK-4952-01 COSM32553 c.365C>G p.A122G Substitution - Missense 23:118975145-118975145 + TCGA-DC-6158-01 COSM3424387 c.644C>T p.A215V Substitution - Missense 23:118975424-118975424 + TCGA-CM-6674-01 COSM1465161 c.500_501insC p.V169fs*11 Insertion - Frameshift 23:118975280-118975281 + CSCC-55-T COSM4525113 c.130G>A p.E44K Substitution - Missense 23:118974910-118974910 + TCGA-EE-A2MI-06 COSM3557190 c.1366C>T p.H456Y Substitution - Missense 23:119006194-119006194 + AOCS-095-1-4 COSM4137627 c.1689-2A>T p.? Unknown 23:119013037-119013037 + TCGA-B5-A0K9-01 COSM1155226 c.1303C>T p.P435S Substitution - Missense 23:118989651-118989651 + TCGA-EK-A2R8-01 COSM4822728 c.1272C>A p.C424* Substitution - Nonsense 23:118989620-118989620 + BCM501T COSM4951997 c.622C>A p.R208R Substitution - coding silent 23:118975402-118975402 + TCGA-CJ-4920-01 COSM1138049 c.107G>T p.G36V Substitution - Missense 23:118974887-118974887 + TCGA-D9-A3Z4-01 COSM3557187 c.962C>T p.S321F Substitution - Missense 23:118989433-118989433 + TCGA-EE-A3J7-06 COSM3913252 c.488G>A p.G163E Substitution - Missense 23:118975268-118975268 + KPOPBR-03-T COSM5965046 c.494T>C p.L165P Substitution - Missense 23:118975274-118975274 + TCGA-60-2719-01 COSM754452 c.1279G>A p.A427T Substitution - Missense 23:118990547-118990547 + TCGA-FP-A4BE-01 COSM4106132 c.1706C>A p.P569H Substitution - Missense 23:119011868-119011868 + TCGA-34-5928-01 COSM1151431 c.1078C>T p.H360Y Substitution - Missense 23:118989426-118989426 + TCGA-34-2600-01 COSM754455 c.794A>T p.K265M Substitution - Missense 23:118975574-118975574 + TCGA-P5-A5EW-01 COSM3973158 c.1179C>A p.D393E Substitution - Missense 23:118989527-118989527 + TCGA-BS-A0UV-01 COSM1113756 c.2020G>A p.A674T Substitution - Missense 23:119017553-119017553 + TCGA-60-2719-01 COSM1151432 c.1402G>A p.A468T Substitution - Missense 23:118990547-118990547 + OSCC-GB_00310111 COSM2723252 c.1701C>T p.T567T Substitution - coding silent 23:119011863-119011863 + TCGA-16-1045-01 COSM3405876 c.1723T>A p.F575I Substitution - Missense 23:119011885-119011885 + HN_62756 COSM128394 c.1242A>G p.L414L Substitution - coding silent 23:118990510-118990510 + 2170 COSM5013796 c.1373C>T p.A458V Substitution - Missense 23:118990518-118990518 + T25 COSM5345861 c.504C>A p.P168P Substitution - coding silent 23:118975284-118975284 + LAU165 COSM234034 c.1202-5C>T p.? Unknown 23:118990465-118990465 + TCGA-FS-A1Z3-06 COSM3557184 c.960T>C p.C320C Substitution - coding silent 23:118989431-118989431 + TCGA-HJ-7597-01 COSM4106128 c.571C>T p.R191C Substitution - Missense 23:118975351-118975351 + AOCS-095-3-1 COSM4137627 c.1689-2A>T p.? Unknown 23:119013037-119013037 + 3737 COSM4169460 c.1201+3A>C p.? Unknown 23:118989675-118989675 + B89-12 COSM1756358 c.2084A>G p.N695S Substitution - Missense 23:119014316-119014316 + TCGA-AP-A059-01 COSM1598729 c.818C>T p.A273V Substitution - Missense 23:118978345-118978345 + HCC1008 COSM32553 c.365C>G p.A122G Substitution - Missense 23:118975145-118975145 + 2090423 COSM1738175 c.418_450del33 p.T141_E151del11 Deletion - In frame 23:118975198-118975230 + TCGA-B5-A11E-01 COSM1598796 c.1752T>C p.R584R Substitution - coding silent 23:119011914-119011914 + PARBRK COSM5005532 c.150G>A p.P50P Substitution - coding silent 23:118974930-118974930 + I2L-P19Ta-Tumor-Biopsy COSM5367035 c.723G>A p.A241A Substitution - coding silent 23:118975503-118975503 + B107 COSM1756356 c.941A>G p.N314S Substitution - Missense 23:118989412-118989412 + B107 COSM1756355 c.1064A>G p.N355S Substitution - Missense 23:118989412-118989412 + I2L-P19Ta-Tumor-Organoid COSM5367019 c.505G>T p.V169L Substitution - Missense 23:118975285-118975285 + PT08_1 COSM5894171 c.1746G>A p.M582I Substitution - Missense 23:119011908-119011908 + PD24190a COSM5780865 c.1768G>T p.G590C Substitution - Missense 23:119011930-119011930 + 331 COSM3722377 c.924G>T p.P308P Substitution - coding silent 23:118978451-118978451 + TCGA-HU-8602-01 COSM2723267 c.1928G>A p.R643Q Substitution - Missense 23:119013155-119013155 + TCGA-D1-A103-01 COSM1598795 c.1760T>G p.I587S Substitution - Missense 23:119011922-119011922 + Pat_41_B COSM5876949 c.2005G>A p.G669R Substitution - Missense 23:119014237-119014237 + PD4613a COSM5768457 c.192G>A p.T64T Substitution - coding silent 23:118974972-118974972 + TCGA-A6-6650-01 COSM3694295 c.1401C>T p.C467C Substitution - coding silent 23:118990546-118990546 + OSCC-GB_00310111 COSM2723253 c.1578C>T p.T526T Substitution - coding silent 23:119011863-119011863 + B89-12-Tumor COSM1756358 c.2084A>G p.N695S Substitution - Missense 23:119014316-119014316 + I2L-P19Ta-Tumor-Biopsy COSM5367018 c.505G>T p.V169L Substitution - Missense 23:118975285-118975285 + TCGA-A5-A0VQ-01 COSM1113753 c.1919G>A p.W640* Substitution - Nonsense 23:119014274-119014274 + BCM723T COSM4956641 c.2073C>G p.L691L Substitution - coding silent 23:119017606-119017606 + TCGA-A6-6650-01 COSM3694296 c.1278C>T p.C426C Substitution - coding silent 23:118990546-118990546 + TCGA-AP-A059-01 COSM1113754 c.1965C>T p.H655H Substitution - coding silent 23:119014320-119014320 + TCGA-BS-A0UV-01 COSM1598790 c.2143G>A p.A715T Substitution - Missense 23:119017553-119017553 + RK062_C01 COSM1636354 c.1487delA p.E496fs*45 Deletion - Frameshift 23:119009205-119009205 + I2L-P19Ta-Tumor-Biopsy COSM5367036 c.723G>A p.A241A Substitution - coding silent 23:118975503-118975503 + 3737 COSM4169459 c.1324+3A>C p.? Unknown 23:118989675-118989675 + AOCS-167-13-9 COSM1315136 c.497C>G p.S166* Substitution - Nonsense 23:118975277-118975277 + TCGA-66-2785-01 COSM1134627 c.1541C>G p.S514* Substitution - Nonsense 23:119009136-119009136 + Pat_76_A COSM5876943 c.1150G>A p.G384R Substitution - Missense 23:118989498-118989498 + AOCS-095-1-4 COSM4137626 c.1812-2A>T p.? Unknown 23:119013037-119013037 + sysucc-880T COSM5463831 c.741G>A p.R247R Substitution - coding silent 23:118975521-118975521 + PT08_1 COSM5894172 c.1623G>A p.M541I Substitution - Missense 23:119011908-119011908 + 06-P2007 COSM4589142 c.1852G>T p.V618F Substitution - Missense 23:119014207-119014207 + ESO-175 COSM1256605 c.1984A>G p.K662E Substitution - Missense 23:119014339-119014339 + TCGA-FS-A1ZZ-06 COSM1113758 c.2063G>A p.R688Q Substitution - Missense 23:119017596-119017596 + I2L-P7-Tumor-Organoid COSM5367446 c.544C>T p.L182L Substitution - coding silent 23:118975324-118975324 + QC2-42-T2 COSM5656284 c.2073T>G p.N691K Substitution - Missense 23:119014305-119014305 + TCGA-B5-A11E-01 COSM1113749 c.1629T>C p.R543R Substitution - coding silent 23:119011914-119011914 + TCGA-AP-A059-01 COSM1113752 c.1740T>C p.A580A Substitution - coding silent 23:119013090-119013090 + SKNEP1 COSM4589133 c.1059G>T p.Q353H Substitution - Missense 23:118989530-118989530 + S00941 COSM5663898 c.830A>C p.H277P Substitution - Missense 23:118978357-118978357 + TCGA-DR-A0ZM-01 COSM1134627 c.1541C>G p.S514* Substitution - Nonsense 23:119009136-119009136 + A673 COSM4589139 c.1605G>A p.E535E Substitution - coding silent 23:119011890-119011890 + CHC1743T COSM4805608 c.504C>G p.P168P Substitution - coding silent 23:118975284-118975284 + GC_356T-GC_356N COSM4774682 c.433G>A p.A145T Substitution - Missense 23:118975213-118975213 + ME049T COSM230431 c.1468C>T p.L490F Substitution - Missense 23:119009186-119009186 + S00825 COSM5659337 c.2037G>A p.M679I Substitution - Missense 23:119017570-119017570 + TCGA-G3-A25U-01 COSM4910900 c.2020G>A p.V674I Substitution - Missense 23:119014252-119014252 + SKNEP1 COSM4589132 c.1182G>T p.Q394H Substitution - Missense 23:118989530-118989530 + 2090423 COSM1738176 c.418_450del33 p.T141_E151del11 Deletion - In frame 23:118975198-118975230 + TCGA-CC-A5UC-01 COSM4911926 c.1672A>G p.I558V Substitution - Missense 23:119011834-119011834 + PD9606a COSM5772568 c.2247A>G p.R749R Substitution - coding silent 23:119017657-119017657 + TCGA-AP-A0LM-01 COSM1113758 c.2063G>A p.R688Q Substitution - Missense 23:119017596-119017596 + TCGA-B5-A0K4-01 COSM1113746 c.1477G>T p.E493* Substitution - Nonsense 23:119009195-119009195 + TCGA-FW-A3R5-06 COSM3913254 c.1627C>T p.R543C Substitution - Missense 23:119011912-119011912 + TCGA-AD-6548-01 COSM1465164 c.600C>T p.S200S Substitution - coding silent 23:118975380-118975380 + ESCC-211T COSM3939751 c.1581A>T p.I527I Substitution - coding silent 23:119009176-119009176 + GC_350T-GC_350N COSM4772086 c.1929G>A p.S643S Substitution - coding silent 23:119014284-119014284 + TCGA-BS-A0UV-01 COSM1113759 c.2090G>A p.R697K Substitution - Missense 23:119017623-119017623 + CHC1743T COSM4805609 c.504C>G p.P168P Substitution - coding silent 23:118975284-118975284 + S00941 COSM5663895 c.371C>A p.A124E Substitution - Missense 23:118975151-118975151 + RK308_C01 COSM3747276 c.2195T>G p.L732R Substitution - Missense 23:119017605-119017605 + S00825 COSM5659336 c.2160G>A p.M720I Substitution - Missense 23:119017570-119017570 + LUAD-S01315 COSM385764 c.1144C>G p.H382D Substitution - Missense 23:118989615-118989615 + TCGA-C8-A274-01 COSM1490402 c.1186G>C p.E396Q Substitution - Missense 23:118989534-118989534 + TCGA-FS-A1ZZ-06 COSM1598789 c.2186G>A p.R729Q Substitution - Missense 23:119017596-119017596 + YULAD COSM5228252 c.1628G>A p.R543H Substitution - Missense 23:119011913-119011913 + T3090 COSM4698380 c.919C>T p.R307C Substitution - Missense 23:118978446-118978446 + TCGA-36-2534-01 COSM1331322 c.1580T>A p.I527K Substitution - Missense 23:119009175-119009175 + TCGA-CK-4952-01 COSM1465160 c.365C>G p.A122G Substitution - Missense 23:118975145-118975145 + TCGA-A6-5665-01 COSM1465172 c.1561A>G p.T521A Substitution - Missense 23:119011846-119011846 + TCGA-A2-A0EY-01 COSM1490404 c.1192G>C p.E398Q Substitution - Missense 23:118989540-118989540 + TCGA-AP-A056-01 COSM1113751 c.1645G>A p.G549S Substitution - Missense 23:119011930-119011930 + PT08_2 COSM5894171 c.1746G>A p.M582I Substitution - Missense 23:119011908-119011908 + PT48 COSM5934187 c.916C>T p.L306F Substitution - Missense 23:118978443-118978443 + SNUH_G76_S1 COSM2723271 c.1902T>C p.Y634Y Substitution - coding silent 23:119014257-119014257 + TCGA-AP-A0LM-01 COSM1598789 c.2186G>A p.R729Q Substitution - Missense 23:119017596-119017596 + HCC2998 COSM2723262 c.1729C>A p.Q577K Substitution - Missense 23:119013079-119013079 + sysucc-880T COSM5463832 c.741G>A p.R247R Substitution - coding silent 23:118975521-118975521 + TCGA-EB-A3XB-01 COSM3557192 c.1842C>T p.I614I Substitution - coding silent 23:119013069-119013069 + CHEWS012 COSM4589135 c.1680G>C p.V560V Substitution - coding silent 23:119011842-119011842 + 587342 COSM1213539 c.1610A>G p.E537G Substitution - Missense 23:119009205-119009205 + TCGA-66-2781-01 COSM1151433 c.1915C>T p.H639Y Substitution - Missense 23:119013142-119013142 + CSCC-27-T COSM4473613 c.1739C>T p.A580V Substitution - Missense 23:119013089-119013089 + TCGA-CM-6674-01 COSM1465162 c.500_501insC p.V169fs*11 Insertion - Frameshift 23:118975280-118975281 + TCGA-AD-6548-01 COSM1465163 c.600C>T p.S200S Substitution - coding silent 23:118975380-118975380 + TCGA-20-1683-01 COSM1331320 c.1776A>G p.R592R Substitution - coding silent 23:119011938-119011938 + PASFXA COSM2723214 c.765C>T p.R255R Substitution - coding silent 23:118975545-118975545 + S00829 COSM5660195 c.1046G>T p.C349F Substitution - Missense 23:118982930-118982930 + YUFERY COSM5411857 c.1422C>T p.F474F Substitution - coding silent 23:119006127-119006127 + TCGA-C8-A274-01 COSM1490403 c.1063G>C p.E355Q Substitution - Missense 23:118989534-118989534 + TCGA-BS-A0UF-01 COSM1598798 c.1380C>T p.F460F Substitution - coding silent 23:118990525-118990525 + TCGA-AP-A059-01 COSM1113742 c.818C>T p.A273V Substitution - Missense 23:118978345-118978345 + AOCS-095-3-1 COSM4137626 c.1812-2A>T p.? Unknown 23:119013037-119013037 + TCGA-BR-6452-01 COSM4106130 c.987G>T p.R329S Substitution - Missense 23:118989458-118989458 + BCM723T COSM4956640 c.2196C>G p.L732L Substitution - coding silent 23:119017606-119017606 + ZZUFHECRKL-G041T COSM5437794 c.1306A>G p.N436D Substitution - Missense 23:118989654-118989654 + TCGA-BP-4989-01 COSM1138051 c.1493A>G p.N498S Substitution - Missense 23:119006198-119006198 + TCGA-BS-A0UF-01 COSM1598727 c.998A>G p.E333G Substitution - Missense 23:118982882-118982882 + TCGA-AP-A0LP-01 COSM1155230 c.2183G>T p.S728I Substitution - Missense 23:119017593-119017593 + TCGA-D8-A1JI-01 COSM1490405 c.1465A>G p.K489E Substitution - Missense 23:119006170-119006170 + YULAD COSM5228251 c.1751G>A p.R584H Substitution - Missense 23:119011913-119011913 + TCGA-G3-A25U-01 COSM4910901 c.1897G>A p.V633I Substitution - Missense 23:119014252-119014252 + ESCC-147T COSM3939755 c.1863G>T p.E621D Substitution - Missense 23:119014218-119014218 + TCGA-A6-6780-01 COSM1465165 c.817+1G>A p.? Unknown 23:118975598-118975598 + YULLON COSM1715464 c.1283C>T p.S428F Substitution - Missense 23:118989631-118989631 + TCGA-G3-A25W-01 COSM4927165 c.2115C>A p.A705A Substitution - coding silent 23:119014347-119014347 + TCGA-EE-A2MJ-06 COSM3557195 c.2119C>T p.P707S Substitution - Missense 23:119014351-119014351 + TCGA-A6-5665-01 COSM1465171 c.1684A>G p.T562A Substitution - Missense 23:119011846-119011846 + B89-12-Tumor COSM1756359 c.1961A>G p.N654S Substitution - Missense 23:119014316-119014316 + GC_356T-GC_356N COSM4774683 c.433G>A p.A145T Substitution - Missense 23:118975213-118975213 + TCGA-FS-A1Z3-06 COSM3557183 c.1083T>C p.C361C Substitution - coding silent 23:118989431-118989431 + LUAD-S01413 COSM388334 c.943C>G p.L315V Substitution - Missense 23:118989414-118989414 + TCGA-34-5928-01 COSM754453 c.955C>T p.H319Y Substitution - Missense 23:118989426-118989426 + TCGA-18-3416-01 COSM754454 c.939A>T p.A313A Substitution - coding silent 23:118982823-118982823 + BCM723T COSM4956641 c.2073C>G p.L691L Substitution - coding silent 23:119017606-119017606 + I2L-P19Ta-Tumor-Organoid COSM5368027 c.1554_1555insA p.N520fs*10 Insertion - Frameshift 23:119009149-119009150 + TCGA-P5-A5EW-01 COSM3973159 c.1056C>A p.D352E Substitution - Missense 23:118989527-118989527 + KPOPBR-03-T COSM5965045 c.494T>C p.L165P Substitution - Missense 23:118975274-118975274 + C0089T COSM4165006 c.2208A>T p.A736A Substitution - coding silent 23:119017618-119017618 + PT48 COSM5934188 c.916C>T p.L306F Substitution - Missense 23:118978443-118978443 + PT08_2 COSM5894172 c.1623G>A p.M541I Substitution - Missense 23:119011908-119011908 + TCGA-16-1045-01 COSM3405877 c.1600T>A p.F534I Substitution - Missense 23:119011885-119011885 + CSCC-20-T COSM4459687 c.1136C>T p.P379L Substitution - Missense 23:118989484-118989484 + TCGA-EE-A2MI-06 COSM3557189 c.1489C>T p.H497Y Substitution - Missense 23:119006194-119006194 + 31T COSM2723253 c.1578C>T p.T526T Substitution - coding silent 23:119011863-119011863 + TCGA-D8-A1JI-01 COSM1490406 c.1342A>G p.K448E Substitution - Missense 23:119006170-119006170 + HCT15 COSM2723229 c.1202A>T p.D401V Substitution - Missense 23:118990470-118990470 + TCGA-MH-A561-01 COSM1598789 c.2186G>A p.R729Q Substitution - Missense 23:119017596-119017596 + TCGA-B5-A0K9-01 COSM1113744 c.1180C>T p.P394S Substitution - Missense 23:118989651-118989651 + TCGA-H4-A2HO-01 COSM1315136 c.497C>G p.S166* Substitution - Nonsense 23:118975277-118975277 + TCGA-AM-5820-01 COSM32553 c.365C>G p.A122G Substitution - Missense 23:118975145-118975145 + I2L-P19Ta-Tumor-Organoid COSM5368028 c.1431_1432insA p.N479fs*10 Insertion - Frameshift 23:119009149-119009150 + BCM723T COSM4956640 c.2196C>G p.L732L Substitution - coding silent 23:119017606-119017606 + ZZUFHECRKL-G071T COSM5439027 c.1672G>T p.G558* Substitution - Nonsense 23:119011957-119011957 + TCGA-34-2600-01 COSM1151430 c.794A>T p.K265M Substitution - Missense 23:118975574-118975574 + I2L-P19Ta-Tumor-Organoid COSM5367018 c.505G>T p.V169L Substitution - Missense 23:118975285-118975285 + BCM501T COSM4951998 c.622C>A p.R208R Substitution - coding silent 23:118975402-118975402 + TCGA-AZ-4615-01 COSM3694293 c.920G>A p.R307H Substitution - Missense 23:118978447-118978447 + TCGA-AP-A0LM-01 COSM1113743 c.1074G>A p.E358E Substitution - coding silent 23:118989545-118989545 + ZZUFHECRKL-G041T COSM5437795 c.1183A>G p.N395D Substitution - Missense 23:118989654-118989654 + TCGA-CM-6165-01 COSM1465169 c.1345G>A p.D449N Substitution - Missense 23:118990490-118990490 + TCGA-AP-A059-01 COSM1598793 c.1863T>C p.A621A Substitution - coding silent 23:119013090-119013090 + TCGA-EB-A3XB-01 COSM3557193 c.1719C>T p.I573I Substitution - coding silent 23:119013069-119013069 + CSCC-11-T COSM4456276 c.1003C>T p.L335F Substitution - Missense 23:118982887-118982887 + YUFERY COSM5411858 c.1299C>T p.F433F Substitution - coding silent 23:119006127-119006127 + AOCS-167-13-9 COSM1315137 c.497C>G p.S166* Substitution - Nonsense 23:118975277-118975277 + CHC1743T COSM4805609 c.504C>G p.P168P Substitution - coding silent 23:118975284-118975284 + 06-P2007 COSM4589141 c.1975G>T p.V659F Substitution - Missense 23:119014207-119014207 + TCGA-G3-A25W-01 COSM4927166 c.1992C>A p.A664A Substitution - coding silent 23:119014347-119014347 + B107-Tumor COSM1756355 c.1064A>G p.N355S Substitution - Missense 23:118989412-118989412 + PD24190a COSM5780866 c.1645G>T p.G549C Substitution - Missense 23:119011930-119011930 + ZZUFHECRKL-G071T COSM5439026 c.1795G>T p.G599* Substitution - Nonsense 23:119011957-119011957 + 587342 COSM1213540 c.1487A>G p.E496G Substitution - Missense 23:119009205-119009205 + MO_1263 COSM5549090 c.636C>A p.A212A Substitution - coding silent 23:118975416-118975416 + HCT15 COSM2723228 c.1325A>T p.D442V Substitution - Missense 23:118990470-118990470 + TCGA-AZ-4615-01 COSM3694294 c.920G>A p.R307H Substitution - Missense 23:118978447-118978447 + CSCC-27-T COSM4473612 c.1862C>T p.A621V Substitution - Missense 23:119013089-119013089 + LUAD-NYU584S COSM375269 c.1366C>A p.H456N Substitution - Missense 23:119006194-119006194 + S00941 COSM5663897 c.830A>C p.H277P Substitution - Missense 23:118978357-118978357 + TCGA-A6-6780-01 COSM1465166 c.817+1G>A p.? Unknown 23:118975598-118975598 + T3080 COSM4698383 c.1989C>T p.D663D Substitution - coding silent 23:119014344-119014344 + Pat_45_B COSM5876946 c.1696C>T p.P566S Substitution - Missense 23:119011858-119011858 + TCGA-H4-A2HO-01 COSM1315137 c.497C>G p.S166* Substitution - Nonsense 23:118975277-118975277 + TCGA-DR-A0ZM-01 COSM462331 c.1418C>G p.S473* Substitution - Nonsense 23:119009136-119009136 + RK308_C01 COSM3747277 c.2072T>G p.L691R Substitution - Missense 23:119017605-119017605 + TCGA-B0-4700-01 COSM487858 c.1204C>A p.P402T Substitution - Missense 23:118990472-118990472 + TCGA-CC-A5UC-01 COSM4911927 c.1549A>G p.I517V Substitution - Missense 23:119011834-119011834 + TCGA-66-2785-01 COSM462331 c.1418C>G p.S473* Substitution - Nonsense 23:119009136-119009136 + TCGA-DC-6158-01 COSM3424386 c.644C>T p.A215V Substitution - Missense 23:118975424-118975424 + PARBRK COSM5005531 c.150G>A p.P50P Substitution - coding silent 23:118974930-118974930 + OSCC-GB_01010111 COSM4882336 c.1669C>A p.P557T Substitution - Missense 23:119011831-119011831 + TCGA-AP-A0LM-01 COSM1598797 c.1746G>T p.M582I Substitution - Missense 23:119011908-119011908 + B107-Tumor COSM1756356 c.941A>G p.N314S Substitution - Missense 23:118989412-118989412 + TCGA-B5-A0K4-01 COSM1155227 c.1600G>T p.E534* Substitution - Nonsense 23:119009195-119009195 + TCGA-B5-A0JZ-01 COSM1155228 c.1717C>T p.H573Y Substitution - Missense 23:119011879-119011879 + OSCC-GB_01010111 COSM4882337 c.1546C>A p.P516T Substitution - Missense 23:119011831-119011831 + RK062_C01 COSM1636353 c.1610delA p.E537fs*45 Deletion - Frameshift 23:119009205-119009205 + A673 COSM4589138 c.1728G>A p.E576E Substitution - coding silent 23:119011890-119011890 + Pat_41_B COSM5876950 c.1882G>A p.G628R Substitution - Missense 23:119014237-119014237 + SNUH_G76_S1 COSM2723270 c.2025T>C p.Y675Y Substitution - coding silent 23:119014257-119014257 + HCT15 COSM4633081 c.120G>T p.K40N Substitution - Missense 23:118974900-118974900 + TCGA-CM-6165-01 COSM1465170 c.1222G>A p.D408N Substitution - Missense 23:118990490-118990490 + TCGA-EE-A3J7-06 COSM3913251 c.488G>A p.G163E Substitution - Missense 23:118975268-118975268 + GC_350T-GC_350N COSM4772085 c.2052G>A p.S684S Substitution - coding silent 23:119014284-119014284 + Pat_76_A COSM5876944 c.1027G>A p.G343R Substitution - Missense 23:118989498-118989498 + BCM501T COSM4951998 c.622C>A p.R208R Substitution - coding silent 23:118975402-118975402 + TCGA-D9-A3Z4-01 COSM3557186 c.1085C>T p.S362F Substitution - Missense 23:118989433-118989433 + C0089T COSM4165007 c.2085A>T p.A695A Substitution - coding silent 23:119017618-119017618 + TCGA-AP-A059-01 COSM1598792 c.2088C>T p.H696H Substitution - coding silent 23:119014320-119014320 + C086 COSM5533906 c.1229C>T p.S410F Substitution - Missense 23:118989577-118989577 + YULLON COSM1715465 c.1160C>T p.S387F Substitution - Missense 23:118989631-118989631 + TCGA-20-1683-01 COSM1331321 c.1653A>G p.R551R Substitution - coding silent 23:119011938-119011938 + TCGA-CL-4957-01 COSM3424385 c.406G>A p.V136M Substitution - Missense 23:118975186-118975186 + ESCC-211T COSM3939752 c.1458A>T p.I486I Substitution - coding silent 23:119009176-119009176 + TCGA-FW-A3R5-06 COSM3913253 c.1750C>T p.R584C Substitution - Missense 23:119011912-119011912 + TCGA-EE-A2MJ-06 COSM3557196 c.1996C>T p.P666S Substitution - Missense 23:119014351-119014351 + BCM501T COSM4951997 c.622C>A p.R208R Substitution - coding silent 23:118975402-118975402 + TCGA-CJ-4920-01 COSM487857 c.107G>T p.G36V Substitution - Missense 23:118974887-118974887 + Pat_76_B COSM5876943 c.1150G>A p.G384R Substitution - Missense 23:118989498-118989498 + MO_1263 COSM5549089 c.636C>A p.A212A Substitution - coding silent 23:118975416-118975416 + TCGA-36-2534-01 COSM1331323 c.1457T>A p.I486K Substitution - Missense 23:119009175-119009175 + 2170 COSM5013797 c.1250C>T p.A417V Substitution - Missense 23:118990518-118990518 + TCGA-AP-A0LM-01 COSM1113748 c.1623G>T p.M541I Substitution - Missense 23:119011908-119011908 + TCGA-D1-A103-01 COSM1113750 c.1637T>G p.I546S Substitution - Missense 23:119011922-119011922 + 331 COSM3722376 c.924G>T p.P308P Substitution - coding silent 23:118978451-118978451 + CSCC-27-T COSM4470685 c.1677C>T p.F559F Substitution - coding silent 23:119011839-119011839 + I2L-P7-Tumor-Organoid COSM5367447 c.544C>T p.L182L Substitution - coding silent 23:118975324-118975324 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.144222;Hs.144264;Hs.144266 Xq24

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.D299G c.896A>G X 118112386 STAD A G Missense p.K489E c.1465A>G X 118140133 BRCA A G Missense p.K703E c.2107A>G X 118148302 ESCA A G Missense p.N498S c.1493A>G X 118140161 RCCC A G Synonymous p.K516K c.1548A>G X 118143106 CLL A G Synonymous p.L455L c.1365A>G X 118124473 HNSC A T Missense p.K265M c.794A>T X 118109537 LUSC A T Synonymous p.A313A c.939A>T X 118116786 LUSC C A IntronicSNV . c.1415+6851C>A X 118131374 CLL C A Missense p.L358I c.1072C>A X 118123383 LUAD C G Missense p.S284C c.851C>G X 118112341 LUAD C G Nonsense p.S166* c.497C>G X 118109240 BLCA C T Missense p.H360Y c.1078C>T X 118123389 LUSC C T Missense p.H497Y c.1489C>T X 118140157 CM C T Missense p.H573Y c.1717C>T X 118145842 UCEC C T Missense p.H639Y c.1915C>T X 118147105 LUSC C T Missense p.L531F c.1591C>T X 118143149 CM C T Missense p.P220S c.658C>T X 118109401 LUAD C T Missense p.P435S c.1303C>T X 118123614 UCEC C T Missense p.P532L c.1595C>T X 118143153 CM C T Missense p.P707S c.2119C>T X 118148314 CM C T Missense p.P733L c.2198C>T X 118151571 CM C T Missense p.P733S c.2197C>T X 118151570 CM C T Missense p.R307C c.919C>T X 118112409 BRCA C T Missense p.R52W c.154C>T X 118108897 GBM C T Nonsense p.Q447* c.1339C>T X 118124447 CM C T Synonymous p.C597C c.1791C>T X 118145916 CM G A Missense p.A468T c.1402G>A X 118124510 LUSC G A Missense p.E128K c.382G>A X 118109125 CM G A Missense p.E25K c.73G>A X 118108816 CM G A Missense p.G163E c.488G>A X 118109231 CM G A Missense p.R729Q c.2186G>A X 118151559 CM G C Missense p.E396Q c.1186G>C X 118123497 BRCA G C Missense p.E398Q c.1192G>C X 118123503 BRCA G C Missense p.R242P c.725G>C X 118109468 OV G T Missense p.D461Y c.1381G>T X 118124489 LUAD G T Missense p.D650Y c.1948G>T X 118147138 LUAD G T Missense p.G36V c.107G>T X 118108850 RCCC G T Missense p.G483W c.1447G>T X 118140115 STAD G T Missense p.K741N c.2223G>T X 118151596 LUAD G T Missense p.S728I c.2183G>T X 118151556 UCEC G T Nonsense p.E534* c.1600G>T X 118143158 UCEC G T Synonymous p.A243A c.729G>T X 118109472 LUAD G T Synonymous p.G604G c.1812G>T X 118147002 LUAD T A Missense p.F575I c.1723T>A X 118145848 GBM T A Missense p.F620Y c.1859T>A X 118147049 COREAD T A Synonymous p.A380A c.1140T>A X 118123451 LUAD T C Missense p.V41A c.122T>C X 118108865 LUAD T C Synonymous p.C361C c.1083T>C X 118123394 CM T C Synonymous p.L552L c.1656T>C X 118145781 LUAD