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 ACC 23 24006591 24006591 + Missense_Mutation SNP C C A TCGA-OR-A5J4-01A-11D-A29I-10 TCGA-OR-A5J4-10A-01D-A29L-10 g.chrX:24006591C>A c.1262G>T c.(1261-1263)gGg>gTg p.G421V ACC 23 24006761 24006763 + In_Frame_Del DEL ATC ATC - TCGA-OR-A5LO-01A-11D-A29I-10 TCGA-OR-A5LO-10A-01D-A29L-10 g.chrX:24006761_24006763delATC c.1090_1092delGAT c.(1090-1092)gatdel p.D364del BLCA 23 24006301 24006301 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 g.chrX:24006301C>T c.1552G>A c.(1552-1554)Gag>Aag p.E518K BLCA 23 24006434 24006434 + Missense_Mutation SNP C C G TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chrX:24006434C>G c.1419G>C c.(1417-1419)aaG>aaC p.K473N BLCA 23 24006693 24006693 + Missense_Mutation SNP C C G TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chrX:24006693C>G c.1160G>C c.(1159-1161)aGa>aCa p.R387T BLCA 23 24024257 24024257 + Missense_Mutation SNP T T C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 g.chrX:24024257T>C c.554A>G c.(553-555)gAt>gGt p.D185G BLCA 23 24024257 24024257 + Missense_Mutation SNP T T C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 g.chrX:24024257T>C c.554A>G c.(553-555)gAt>gGt p.D185G BLCA 23 24024468 24024468 + Missense_Mutation SNP C C G TCGA-K4-A5RJ-01A-11D-A289-08 TCGA-K4-A5RJ-10A-01D-A289-08 g.chrX:24024468C>G c.343G>C c.(343-345)Gaa>Caa p.E115Q BRCA 23 24006791 24006791 + Silent SNP C C T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 g.chrX:24006791C>T c.1062G>A c.(1060-1062)ccG>ccA p.P354P BRCA 23 24024161 24024162 + Frame_Shift_Ins INS - - T TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 g.chrX:24024161_24024162insT c.649_650insA c.(649-651)accfs p.T217fs BRCA 23 24024511 24024511 + Silent SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 g.chrX:24024511G>A c.300C>T c.(298-300)acC>acT p.T100T BRCA 23 24024795 24024795 + Nonsense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chrX:24024795C>A c.16G>T c.(16-18)Gaa>Taa p.E6* CESC 23 24006133 24006133 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chrX:24006133C>T c.1720G>A c.(1720-1722)Gag>Aag p.E574K CESC 23 24006341 24006341 + Silent SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 g.chrX:24006341G>A c.1512C>T c.(1510-1512)ttC>ttT p.F504F CESC 23 24006425 24006425 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 g.chrX:24006425G>A c.1428C>T c.(1426-1428)taC>taT p.Y476Y CESC 23 24024244 24024244 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 g.chrX:24024244C>T c.567G>A c.(565-567)ctG>ctA p.L189L COAD 23 24006146 24006146 + Silent SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chrX:24006146C>T c.1707G>A c.(1705-1707)aaG>aaA p.K569K COAD 23 24006374 24006374 + Silent SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chrX:24006374G>A c.1479C>T c.(1477-1479)ttC>ttT p.F493F COAD 23 24006567 24006567 + Missense_Mutation SNP A A C TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chrX:24006567A>C c.1286T>G c.(1285-1287)tTt>tGt p.F429C COAD 23 24006569 24006569 + Silent SNP C C T TCGA-D5-6922-01A-11D-1924-10 TCGA-D5-6922-10A-01D-1924-10 g.chrX:24006569C>T c.1284G>A c.(1282-1284)ttG>ttA p.L428L COAD 23 24024791 24024791 + Missense_Mutation SNP C C G TCGA-A6-2677-01A-01W-0831-10 TCGA-A6-2677-10A-01W-0831-10 g.chrX:24024791C>G c.20G>C c.(19-21)gGa>gCa p.G7A COADREAD 23 24006146 24006146 + Silent SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chrX:24006146C>T c.1707G>A c.(1705-1707)aaG>aaA p.K569K COADREAD 23 24006374 24006374 + Silent SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chrX:24006374G>A c.1479C>T c.(1477-1479)ttC>ttT p.F493F COADREAD 23 24006567 24006567 + Missense_Mutation SNP A A C TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chrX:24006567A>C c.1286T>G c.(1285-1287)tTt>tGt p.F429C COADREAD 23 24006569 24006569 + Silent SNP C C T TCGA-D5-6922-01A-11D-1924-10 TCGA-D5-6922-10A-01D-1924-10 g.chrX:24006569C>T c.1284G>A c.(1282-1284)ttG>ttA p.L428L COADREAD 23 24024791 24024791 + Missense_Mutation SNP C C G TCGA-A6-2677-01A-01W-0831-10 TCGA-A6-2677-10A-01W-0831-10 g.chrX:24024791C>G c.20G>C c.(19-21)gGa>gCa p.G7A ESCA 23 24006110 24006110 + Missense_Mutation SNP C C G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 g.chrX:24006110C>G c.1743G>C c.(1741-1743)aaG>aaC p.K581N ESCA 23 24024586 24024586 + Silent SNP T T C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 g.chrX:24024586T>C c.225A>G c.(223-225)aaA>aaG p.K75K GBM 23 24006559 24006559 + Missense_Mutation SNP C C T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 g.chrX:24006559C>T c.1294G>A c.(1294-1296)Ggt>Agt p.G432S GBMLGG 23 24006559 24006559 + Missense_Mutation SNP C C T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 g.chrX:24006559C>T c.1294G>A c.(1294-1296)Ggt>Agt p.G432S GBMLGG 23 24006740 24006740 + Silent SNP T T C TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 g.chrX:24006740T>C c.1113A>G c.(1111-1113)gaA>gaG p.E371E GBMLGG 23 24007070 24007070 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:24007070A>G c.783T>C c.(781-783)aaT>aaC p.N261N GBMLGG 23 24024162 24024162 + Missense_Mutation SNP T T C TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 g.chrX:24024162T>C c.649A>G c.(649-651)Acc>Gcc p.T217A HNSC 23 24006507 24006507 + Missense_Mutation SNP C C T TCGA-CV-6941-01A-11D-1912-08 TCGA-CV-6941-10A-01D-1912-08 g.chrX:24006507C>T c.1346G>A c.(1345-1347)aGc>aAc p.S449N HNSC 23 24024381 24024381 + Missense_Mutation SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 g.chrX:24024381C>T c.430G>A c.(430-432)Ggc>Agc p.G144S KIPAN 23 24006241 24006241 + Frame_Shift_Del DEL T T - TCGA-2Z-A9JK-01A-11D-A42J-10 TCGA-2Z-A9JK-10A-01D-A42M-10 g.chrX:24006241delT c.1612delA c.(1612-1614)actfs p.T538fs KIPAN 23 24006422 24006422 + Silent SNP C C A TCGA-A3-3367-01A-02D-1421-08 TCGA-A3-3367-11A-01D-1421-08 g.chrX:24006422C>A c.1431G>T c.(1429-1431)gcG>gcT p.A477A KIPAN 23 24007140 24007140 + Missense_Mutation SNP G G T TCGA-B0-4852-01A-01D-1501-10 TCGA-B0-4852-11A-01D-1501-10 g.chrX:24007140G>T c.713C>A c.(712-714)aCa>aAa p.T238K KIPAN 23 24024135 24024157 + Frame_Shift_Del DEL AGCAAAACCGGATATTCTGAATG AGCAAAACCGGATATTCTGAATG - TCGA-A4-A7UZ-01A-12D-A34Z-10 TCGA-A4-A7UZ-10A-01D-A34Z-10 g.chrX:24024135_24024157delAGCAAAACCGGATATTCTGAATG c.654_676delCATTCAGAATATCCGGTTTTGCT c.(652-678)atcattcagaatatccggttttgcttgfs p.IQNIRFCL219fs KIRC 23 24006422 24006422 + Silent SNP C C A TCGA-A3-3367-01A-02D-1421-08 TCGA-A3-3367-11A-01D-1421-08 g.chrX:24006422C>A c.1431G>T c.(1429-1431)gcG>gcT p.A477A KIRC 23 24007140 24007140 + Missense_Mutation SNP G G T TCGA-B0-4852-01A-01D-1501-10 TCGA-B0-4852-11A-01D-1501-10 g.chrX:24007140G>T c.713C>A c.(712-714)aCa>aAa p.T238K KIRP 23 24006241 24006241 + Frame_Shift_Del DEL T T - TCGA-2Z-A9JK-01A-11D-A42J-10 TCGA-2Z-A9JK-10A-01D-A42M-10 g.chrX:24006241delT c.1612delA c.(1612-1614)actfs p.T538fs KIRP 23 24024135 24024157 + Frame_Shift_Del DEL AGCAAAACCGGATATTCTGAATG AGCAAAACCGGATATTCTGAATG - TCGA-A4-A7UZ-01A-12D-A34Z-10 TCGA-A4-A7UZ-10A-01D-A34Z-10 g.chrX:24024135_24024157delAGCAAAACCGGATATTCTGAATG c.654_676delCATTCAGAATATCCGGTTTTGCT c.(652-678)atcattcagaatatccggttttgcttgfs p.IQNIRFCL219fs LGG 23 24006740 24006740 + Silent SNP T T C TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 g.chrX:24006740T>C c.1113A>G c.(1111-1113)gaA>gaG p.E371E LGG 23 24007070 24007070 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:24007070A>G c.783T>C c.(781-783)aaT>aaC p.N261N LGG 23 24024162 24024162 + Missense_Mutation SNP T T C TCGA-QH-A6X5-01A-12D-A32B-08 TCGA-QH-A6X5-10B-01D-A329-08 g.chrX:24024162T>C c.649A>G c.(649-651)Acc>Gcc p.T217A LIHC 23 24006693 24006693 + Missense_Mutation SNP C C A TCGA-G3-A7M5-01A-11D-A33Q-10 TCGA-G3-A7M5-10A-01D-A33Q-10 g.chrX:24006693C>A c.1160G>T c.(1159-1161)aGa>aTa p.R387I LUAD 23 24006107 24006107 + Silent SNP C C A TCGA-80-5611-01A-01D-1625-08 TCGA-80-5611-10A-01D-1625-08 g.chrX:24006107C>A c.1746G>T c.(1744-1746)ctG>ctT p.L582L LUAD 23 24006319 24006319 + Missense_Mutation SNP T T C TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chrX:24006319T>C c.1534A>G c.(1534-1536)Aca>Gca p.T512A LUAD 23 24006484 24006484 + Missense_Mutation SNP G G A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 g.chrX:24006484G>A c.1369C>T c.(1369-1371)Cgg>Tgg p.R457W LUAD 23 24006586 24006586 + Missense_Mutation SNP C C A TCGA-99-8028-01A-11D-2238-08 TCGA-99-8028-10A-01D-2238-08 g.chrX:24006586C>A c.1267G>T c.(1267-1269)Gtg>Ttg p.V423L LUAD 23 24006703 24006703 + Frame_Shift_Del DEL C C - TCGA-17-Z013-01A-01W-0746-08 TCGA-17-Z013-11A-01W-0746-08 g.chrX:24006703delC c.1150delG c.(1150-1152)gtafs p.V384fs LUAD 23 24024448 24024448 + Silent SNP G G A TCGA-99-8032-01A-11D-2238-08 TCGA-99-8032-10A-01D-2238-08 g.chrX:24024448G>A c.363C>T c.(361-363)tgC>tgT p.C121C LUSC 23 24006149 24006149 + Missense_Mutation SNP G G T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 g.chrX:24006149G>T c.1704C>A c.(1702-1704)aaC>aaA p.N568K LUSC 23 24024735 24024735 + Missense_Mutation SNP C C T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chrX:24024735C>T c.76G>A c.(76-78)Gag>Aag p.E26K OV 23 24006144 24006144 + Nonsense_Mutation SNP C C T TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 g.chrX:24006144C>T c.1709G>A c.(1708-1710)tGg>tAg p.W570* PRAD 23 24006924 24006924 + Missense_Mutation SNP A A G TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 g.chrX:24006924A>G c.929T>C c.(928-930)cTa>cCa p.L310P PRAD 23 24007025 24007025 + Silent SNP A A G TCGA-KK-A8IH-01A-11D-A364-08 TCGA-KK-A8IH-11A-11D-A362-08 g.chrX:24007025A>G c.828T>C c.(826-828)cgT>cgC p.R276R SKCM 23 24006085 24006085 + Silent SNP G G A TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chrX:24006085G>A c.1768C>T c.(1768-1770)Ctg>Ttg p.L590L SKCM 23 24006308 24006308 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chrX:24006308G>A c.1545C>T c.(1543-1545)taC>taT p.Y515Y SKCM 23 24006591 24006591 + Missense_Mutation SNP C C T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chrX:24006591C>T c.1262G>A c.(1261-1263)gGg>gAg p.G421E SKCM 23 24006813 24006813 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 g.chrX:24006813G>A c.1040C>T c.(1039-1041)tCc>tTc p.S347F SKCM 23 24006881 24006881 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 g.chrX:24006881G>A c.972C>T c.(970-972)atC>atT p.I324I SKCM 23 24006997 24006997 + Nonsense_Mutation SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chrX:24006997G>A c.856C>T c.(856-858)Cga>Tga p.R286* SKCM 23 24007015 24007015 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chrX:24007015G>A c.838C>T c.(838-840)Ccg>Tcg p.P280S SKCM 23 24024370 24024370 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chrX:24024370G>A c.441C>T c.(439-441)atC>atT p.I147I

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US X 24006301 24006301 single base substitution C T missense_variant E518K 1552G>A BLCA-US X 24024257 24024257 single base substitution T C missense_variant D185G 554A>G BOCA-FR X 24022303 24022303 single base substitution A C intron_variant BOCA-FR X 24039275 24039275 single base substitution C T intron_variant BRCA-EU X 23996966 23996966 single base substitution G A downstream_gene_variant BRCA-EU X 23997119 23997119 single base substitution C T downstream_gene_variant BRCA-EU X 23998606 23998606 single base substitution C A downstream_gene_variant BRCA-EU X 23998685 23998685 single base substitution G C downstream_gene_variant BRCA-EU X 24000501 24000501 single base substitution C T downstream_gene_variant BRCA-EU X 24001005 24001005 single base substitution T A downstream_gene_variant BRCA-EU X 24001182 24001182 deletion of <=200bp A - downstream_gene_variant BRCA-EU X 24002952 24002952 single base substitution G C 3_prime_UTR_variant BRCA-EU X 24003268 24003268 single base substitution G T 3_prime_UTR_variant BRCA-EU X 24003394 24003394 single base substitution C T 3_prime_UTR_variant BRCA-EU X 24004389 24004389 single base substitution G T 3_prime_UTR_variant BRCA-EU X 24005474 24005474 single base substitution C A 3_prime_UTR_variant BRCA-EU X 24005876 24005876 single base substitution G A 3_prime_UTR_variant BRCA-EU X 24006015 24006015 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU X 24006780 24006780 single base substitution G A missense_variant S358F 1073C>T BRCA-EU X 24008228 24008228 single base substitution A G intron_variant BRCA-EU X 24008330 24008330 single base substitution G A intron_variant BRCA-EU X 24008530 24008532 deletion of <=200bp AAG - intron_variant BRCA-EU X 24009623 24009623 single base substitution C T intron_variant BRCA-EU X 24010848 24010848 single base substitution A G intron_variant BRCA-EU X 24011093 24011093 single base substitution C T intron_variant BRCA-EU X 24011199 24011199 single base substitution A G intron_variant BRCA-EU X 24012606 24012606 single base substitution A G intron_variant BRCA-EU X 24012846 24012846 single base substitution T A intron_variant BRCA-EU X 24012847 24012847 single base substitution C A intron_variant BRCA-EU X 24012863 24012863 deletion of <=200bp A - intron_variant BRCA-EU X 24012946 24012946 single base substitution T A intron_variant BRCA-EU X 24013916 24013916 single base substitution G C intron_variant BRCA-EU X 24014810 24014810 single base substitution A G intron_variant BRCA-EU X 24015510 24015510 single base substitution G T intron_variant BRCA-EU X 24016076 24016076 single base substitution C G intron_variant BRCA-EU X 24017500 24017500 single base substitution C T intron_variant BRCA-EU X 24017517 24017517 single base substitution C G intron_variant BRCA-EU X 24021048 24021048 single base substitution C T intron_variant BRCA-EU X 24022515 24022515 single base substitution A G intron_variant BRCA-EU X 24024173 24024173 single base substitution C G missense_variant R213T 638G>C BRCA-EU X 24025502 24025502 single base substitution C G intron_variant BRCA-EU X 24026883 24026883 single base substitution G A intron_variant BRCA-EU X 24027340 24027340 single base substitution G A intron_variant BRCA-EU X 24028022 24028022 single base substitution G A intron_variant BRCA-EU X 24030264 24030264 single base substitution C T intron_variant BRCA-EU X 24031485 24031485 single base substitution T C intron_variant BRCA-EU X 24032214 24032214 single base substitution A T intron_variant BRCA-EU X 24032723 24032723 deletion of <=200bp A - intron_variant BRCA-EU X 24033433 24033433 single base substitution A G intron_variant BRCA-EU X 24033890 24033890 single base substitution C G intron_variant BRCA-EU X 24034031 24034031 single base substitution G A intron_variant BRCA-EU X 24035148 24035148 single base substitution C A intron_variant BRCA-EU X 24035305 24035305 single base substitution G A intron_variant BRCA-EU X 24035485 24035485 single base substitution C A intron_variant BRCA-EU X 24038610 24038610 single base substitution T G intron_variant BRCA-EU X 24039128 24039128 single base substitution G A intron_variant BRCA-EU X 24040321 24040321 single base substitution G A intron_variant BRCA-EU X 24041087 24041087 single base substitution G A intron_variant BRCA-EU X 24042590 24042590 single base substitution C T intron_variant BRCA-EU X 24042800 24042800 deletion of <=200bp A - intron_variant BRCA-EU X 24042808 24042808 single base substitution A T intron_variant BRCA-EU X 24042891 24042891 single base substitution G C intron_variant BRCA-EU X 24043447 24043447 single base substitution G A intron_variant BRCA-EU X 24043596 24043596 single base substitution G A intron_variant BRCA-EU X 24043715 24043715 single base substitution G A intron_variant BRCA-EU X 24043883 24043883 single base substitution C G intron_variant BRCA-EU X 24045457 24045457 single base substitution C G upstream_gene_variant BRCA-EU X 24045894 24045894 single base substitution G T upstream_gene_variant BRCA-EU X 24045979 24045979 single base substitution C G upstream_gene_variant BRCA-EU X 24046197 24046197 single base substitution G T upstream_gene_variant BRCA-EU X 24047638 24047638 single base substitution A T upstream_gene_variant BRCA-EU X 24047992 24047992 single base substitution G T upstream_gene_variant BRCA-EU X 24049857 24049857 deletion of <=200bp A - upstream_gene_variant BRCA-FR X 24000501 24000501 single base substitution C T downstream_gene_variant BRCA-FR X 24002952 24002952 single base substitution G C 3_prime_UTR_variant BRCA-FR X 24011093 24011093 single base substitution C T intron_variant BRCA-FR X 24020279 24020279 single base substitution T G intron_variant BRCA-FR X 24021549 24021549 single base substitution A G intron_variant BRCA-FR X 24025502 24025502 single base substitution C G intron_variant BRCA-FR X 24026883 24026883 single base substitution G A intron_variant BRCA-FR X 24028022 24028022 single base substitution G A intron_variant BRCA-FR X 24030264 24030264 single base substitution C T intron_variant BRCA-FR X 24042891 24042891 single base substitution G C intron_variant BRCA-FR X 24043883 24043883 single base substitution C G intron_variant BRCA-FR X 24045457 24045457 single base substitution C G upstream_gene_variant BRCA-FR X 24046197 24046197 single base substitution G T upstream_gene_variant BRCA-FR X 24048212 24048212 single base substitution T C upstream_gene_variant BRCA-KR X 24024717 24024717 single base substitution C T missense_variant D32N 94G>A BRCA-UK X 24011895 24011895 single base substitution C T intron_variant BRCA-UK X 24041103 24041103 single base substitution C T intron_variant BRCA-UK X 24043713 24043713 single base substitution G A intron_variant BRCA-US X 24006791 24006791 single base substitution C T synonymous_variant P354P 1062G>A BRCA-US X 24024161 24024161 insertion of <=200bp - T frameshift_variant T217T? BRCA-US X 24024511 24024511 single base substitution G A synonymous_variant T100T 300C>T BRCA-US X 24024795 24024795 single base substitution C A stop_gained E6* 16G>T CESC-US X 24006133 24006133 single base substitution C T missense_variant E574K 1720G>A CESC-US X 24006341 24006341 single base substitution G A synonymous_variant F504F 1512C>T CESC-US X 24006425 24006425 single base substitution G A synonymous_variant Y476Y 1428C>T CESC-US X 24024244 24024244 single base substitution C T synonymous_variant L189L 567G>A CLLE-ES X 24017367 24017367 single base substitution C T intron_variant CLLE-ES X 24036090 24036090 single base substitution C T intron_variant CLLE-ES X 24046884 24046884 single base substitution C G upstream_gene_variant COAD-US X 24006560 24006560 single base substitution G A synonymous_variant T431T 1293C>T COCA-CN X 24006995 24006995 single base substitution T C synonymous_variant R286R 858A>G COCA-CN X 24024510 24024510 single base substitution C T missense_variant V101I 301G>A COCA-CN X 24024567 24024567 single base substitution A C missense_variant F82V 244T>G ESCA-CN X 24007094 24007094 single base substitution G T missense_variant D253E 759C>A ESCA-CN X 24024232 24024232 single base substitution T A synonymous_variant P193P 579A>T GBM-US X 24006559 24006559 single base substitution C T missense_variant G432S 1294G>A KIRC-US X 24006422 24006422 single base substitution C A synonymous_variant A477A 1431G>T KIRC-US X 24007140 24007140 single base substitution G T missense_variant T238K 713C>A LGG-US X 24006740 24006740 single base substitution T C synonymous_variant E371E 1113A>G LICA-FR X 23999430 23999430 single base substitution C T downstream_gene_variant LICA-FR X 24006591 24006591 single base substitution C A missense_variant G421V 1262G>T LICA-FR X 24012164 24012164 insertion of <=200bp - AA intron_variant LICA-FR X 24024488 24024488 single base substitution G A missense_variant A108V 323C>T LICA-FR X 24029844 24029844 single base substitution C T intron_variant LICA-FR X 24031445 24031445 single base substitution T A intron_variant LICA-FR X 24031447 24031447 single base substitution T C intron_variant LICA-FR X 24032198 24032198 insertion of <=200bp - ATCTCTAACAAAATTAAAAAAAA intron_variant LIHC-US X 24006091 24006091 single base substitution A C missense_variant C588G 1762T>G LIHC-US X 24006693 24006693 single base substitution C A missense_variant R387I 1160G>T LINC-JP X 24005356 24005356 single base substitution C A 3_prime_UTR_variant LINC-JP X 24006409 24006409 single base substitution T G missense_variant K482Q 1444A>C LINC-JP X 24017819 24017819 single base substitution C T intron_variant LINC-JP X 24033449 24033449 single base substitution T C intron_variant LIRI-JP X 23999221 23999221 single base substitution C G downstream_gene_variant LIRI-JP X 23999998 23999998 single base substitution T G downstream_gene_variant LIRI-JP X 24008063 24008063 single base substitution C T intron_variant LIRI-JP X 24008180 24008180 single base substitution G T intron_variant LIRI-JP X 24014141 24014141 single base substitution C G intron_variant LIRI-JP X 24015400 24015400 single base substitution A C intron_variant LIRI-JP X 24017816 24017816 single base substitution T A intron_variant LIRI-JP X 24017819 24017819 single base substitution C T intron_variant LIRI-JP X 24018617 24018617 single base substitution T A intron_variant LIRI-JP X 24020267 24020267 single base substitution T C intron_variant LIRI-JP X 24023850 24023850 deletion of <=200bp T - intron_variant LIRI-JP X 24026552 24026552 single base substitution C T intron_variant LIRI-JP X 24026701 24026701 single base substitution C G intron_variant LIRI-JP X 24026719 24026719 single base substitution C A intron_variant LIRI-JP X 24030254 24030254 single base substitution A G intron_variant LIRI-JP X 24033029 24033029 single base substitution A G intron_variant LIRI-JP X 24035144 24035144 single base substitution C A intron_variant LIRI-JP X 24037094 24037094 single base substitution C T intron_variant LIRI-JP X 24037129 24037136 deletion of <=200bp AAATAAAG - intron_variant LIRI-JP X 24037232 24037232 single base substitution A C intron_variant LIRI-JP X 24037661 24037661 single base substitution C A intron_variant LIRI-JP X 24038257 24038257 single base substitution G T intron_variant LIRI-JP X 24040170 24040170 single base substitution C T intron_variant LIRI-JP X 24042652 24042652 single base substitution G C intron_variant LIRI-JP X 24042789 24042789 single base substitution G T intron_variant LIRI-JP X 24045211 24045211 single base substitution T A intron_variant LIRI-JP X 24048444 24048444 single base substitution A C upstream_gene_variant LUSC-KR X 23997377 23997377 single base substitution T C downstream_gene_variant LUSC-KR X 24002327 24002327 single base substitution T C 3_prime_UTR_variant LUSC-KR X 24015871 24015871 single base substitution A T intron_variant LUSC-KR X 24037977 24037977 single base substitution C G intron_variant LUSC-KR X 24040854 24040854 single base substitution G T intron_variant LUSC-US X 24006149 24006149 single base substitution G T missense_variant N568K 1704C>A LUSC-US X 24024735 24024735 single base substitution C T missense_variant E26K 76G>A MALY-DE X 23997777 23997777 single base substitution T G downstream_gene_variant MALY-DE X 23998155 23998155 single base substitution T G downstream_gene_variant MALY-DE X 24001883 24001883 insertion of <=200bp - T 3_prime_UTR_variant MALY-DE X 24007206 24007206 single base substitution A T intron_variant MALY-DE X 24007303 24007303 single base substitution A T intron_variant MALY-DE X 24007351 24007351 single base substitution A C intron_variant MALY-DE X 24011975 24011975 single base substitution G A intron_variant MALY-DE X 24020283 24020283 single base substitution G T intron_variant MALY-DE X 24021759 24021759 single base substitution A G intron_variant MALY-DE X 24023521 24023521 single base substitution T G intron_variant MALY-DE X 24032313 24032313 single base substitution C G intron_variant MALY-DE X 24040366 24040366 single base substitution C A intron_variant MALY-DE X 24044446 24044446 single base substitution A C intron_variant MELA-AU X 23997068 23997068 single base substitution G A downstream_gene_variant MELA-AU X 23998210 23998211 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU X 23998915 23998915 single base substitution G A downstream_gene_variant MELA-AU X 23999216 23999216 single base substitution G A downstream_gene_variant MELA-AU X 23999284 23999284 single base substitution C T downstream_gene_variant MELA-AU X 23999805 23999805 single base substitution G A downstream_gene_variant MELA-AU X 24001058 24001058 single base substitution G A downstream_gene_variant MELA-AU X 24001804 24001804 single base substitution A C downstream_gene_variant MELA-AU X 24002470 24002470 single base substitution G A 3_prime_UTR_variant MELA-AU X 24003235 24003235 single base substitution A G 3_prime_UTR_variant MELA-AU X 24003719 24003719 single base substitution G A 3_prime_UTR_variant MELA-AU X 24004896 24004896 single base substitution C T 3_prime_UTR_variant MELA-AU X 24005563 24005563 single base substitution G A 3_prime_UTR_variant MELA-AU X 24005828 24005828 single base substitution C T 3_prime_UTR_variant MELA-AU X 24006144 24006144 single base substitution C T stop_gained W570* 1709G>A MELA-AU X 24006412 24006412 single base substitution G A missense_variant H481Y 1441C>T MELA-AU X 24007224 24007224 single base substitution G A intron_variant MELA-AU X 24008813 24008813 single base substitution G A intron_variant MELA-AU X 24011076 24011076 single base substitution G T intron_variant MELA-AU X 24011639 24011639 single base substitution G A intron_variant MELA-AU X 24012078 24012078 single base substitution G A intron_variant MELA-AU X 24013383 24013383 single base substitution G A intron_variant MELA-AU X 24013831 24013831 single base substitution C A intron_variant MELA-AU X 24013953 24013953 single base substitution A C intron_variant MELA-AU X 24014599 24014599 single base substitution G A intron_variant MELA-AU X 24014605 24014606 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 24014703 24014703 single base substitution C T intron_variant MELA-AU X 24014749 24014749 single base substitution C T intron_variant MELA-AU X 24016906 24016906 single base substitution C T intron_variant MELA-AU X 24017289 24017289 single base substitution G A intron_variant MELA-AU X 24017509 24017509 single base substitution G A intron_variant MELA-AU X 24017631 24017631 single base substitution G A intron_variant MELA-AU X 24017816 24017816 single base substitution T A intron_variant MELA-AU X 24017819 24017819 single base substitution C T intron_variant MELA-AU X 24018222 24018222 single base substitution G A intron_variant MELA-AU X 24019025 24019025 single base substitution G A intron_variant MELA-AU X 24019162 24019162 single base substitution G A intron_variant MELA-AU X 24019467 24019468 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU X 24019831 24019831 single base substitution G A intron_variant MELA-AU X 24020279 24020279 single base substitution T G intron_variant MELA-AU X 24020763 24020763 single base substitution G A intron_variant MELA-AU X 24021267 24021267 single base substitution G A intron_variant MELA-AU X 24021386 24021386 single base substitution G A intron_variant MELA-AU X 24021403 24021403 single base substitution C T intron_variant MELA-AU X 24021675 24021675 single base substitution A C intron_variant MELA-AU X 24022210 24022210 single base substitution G A intron_variant MELA-AU X 24025068 24025069 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 24025294 24025294 single base substitution G A intron_variant MELA-AU X 24026486 24026486 single base substitution T C intron_variant MELA-AU X 24026998 24026998 single base substitution A C intron_variant MELA-AU X 24027043 24027043 single base substitution C T intron_variant MELA-AU X 24027510 24027510 single base substitution G A intron_variant MELA-AU X 24027592 24027592 single base substitution G A intron_variant MELA-AU X 24027847 24027847 single base substitution C T intron_variant MELA-AU X 24027901 24027901 single base substitution G A intron_variant MELA-AU X 24028849 24028849 single base substitution C T intron_variant MELA-AU X 24029380 24029380 single base substitution C T intron_variant MELA-AU X 24029596 24029596 single base substitution A C intron_variant MELA-AU X 24029599 24029599 deletion of <=200bp A - intron_variant MELA-AU X 24029669 24029669 single base substitution G A intron_variant MELA-AU X 24029871 24029871 single base substitution G A intron_variant MELA-AU X 24030221 24030221 single base substitution G A intron_variant MELA-AU X 24030467 24030467 single base substitution C T intron_variant MELA-AU X 24030597 24030598 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 24030678 24030678 single base substitution C A intron_variant MELA-AU X 24030812 24030812 single base substitution G A intron_variant MELA-AU X 24034010 24034011 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 24034440 24034440 single base substitution G A intron_variant MELA-AU X 24034856 24034856 single base substitution G A intron_variant MELA-AU X 24035297 24035297 single base substitution C T intron_variant MELA-AU X 24036579 24036579 single base substitution C A intron_variant MELA-AU X 24037258 24037258 single base substitution T A intron_variant MELA-AU X 24037809 24037810 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 24040344 24040344 single base substitution C T intron_variant MELA-AU X 24040705 24040705 single base substitution C T intron_variant MELA-AU X 24041088 24041088 single base substitution G A intron_variant MELA-AU X 24041475 24041475 single base substitution C T intron_variant MELA-AU X 24041883 24041883 single base substitution G A intron_variant MELA-AU X 24042701 24042701 single base substitution G A intron_variant MELA-AU X 24042775 24042775 single base substitution C T intron_variant MELA-AU X 24042901 24042901 single base substitution G A intron_variant MELA-AU X 24045984 24045984 single base substitution C T upstream_gene_variant MELA-AU X 24046219 24046219 single base substitution T C upstream_gene_variant MELA-AU X 24046227 24046227 single base substitution C T upstream_gene_variant MELA-AU X 24046683 24046683 single base substitution C T upstream_gene_variant MELA-AU X 24047818 24047818 single base substitution C T upstream_gene_variant MELA-AU X 24048935 24048935 single base substitution G A upstream_gene_variant MELA-AU X 24049651 24049651 single base substitution C T upstream_gene_variant MELA-AU X 24049678 24049679 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU X 24050160 24050160 single base substitution A G upstream_gene_variant ORCA-IN X 24013990 24013990 single base substitution G A intron_variant ORCA-IN X 24037458 24037458 single base substitution C G intron_variant OV-AU X 23997034 23997034 single base substitution C T downstream_gene_variant OV-AU X 24000878 24000878 single base substitution A G downstream_gene_variant OV-AU X 24005751 24005751 single base substitution G A 3_prime_UTR_variant OV-AU X 24011457 24011457 single base substitution G C intron_variant OV-AU X 24012912 24012912 single base substitution T G intron_variant OV-AU X 24013102 24013102 single base substitution T A intron_variant OV-AU X 24019857 24019857 single base substitution G T intron_variant OV-AU X 24022270 24022270 single base substitution T C intron_variant OV-AU X 24026895 24026895 single base substitution C T intron_variant OV-AU X 24031387 24031387 single base substitution T A intron_variant OV-AU X 24034390 24034390 single base substitution G C intron_variant OV-AU X 24037595 24037595 single base substitution A C intron_variant OV-AU X 24049167 24049167 single base substitution T A upstream_gene_variant OV-US X 24006144 24006144 single base substitution C T stop_gained W570* 1709G>A PACA-AU X 23996865 23996865 single base substitution C A downstream_gene_variant PACA-AU X 24004355 24004355 single base substitution C T 3_prime_UTR_variant PACA-AU X 24011997 24011997 deletion of <=200bp T - intron_variant PACA-AU X 24013449 24013449 single base substitution G A intron_variant PACA-AU X 24017816 24017816 single base substitution T A intron_variant PACA-AU X 24021772 24021772 single base substitution G A intron_variant PACA-AU X 24024217 24024217 single base substitution G T stop_gained Y198* 594C>A PACA-AU X 24028284 24028284 single base substitution T C intron_variant PACA-AU X 24028759 24028759 single base substitution A G intron_variant PACA-AU X 24039666 24039666 single base substitution C A intron_variant PACA-CA X 24001023 24001024 deletion of <=200bp AA - downstream_gene_variant PACA-CA X 24005090 24005090 single base substitution G A 3_prime_UTR_variant PACA-CA X 24007501 24007501 single base substitution C A intron_variant PACA-CA X 24008885 24008885 insertion of <=200bp - C intron_variant PACA-CA X 24011129 24011129 single base substitution T C intron_variant PACA-CA X 24013008 24013008 single base substitution G T intron_variant PACA-CA X 24020938 24020938 single base substitution T C intron_variant PACA-CA X 24022367 24022367 single base substitution G T intron_variant PACA-CA X 24023105 24023105 single base substitution C T intron_variant PACA-CA X 24028309 24028309 single base substitution C G intron_variant PACA-CA X 24033153 24033153 single base substitution T C intron_variant PACA-CA X 24033277 24033277 single base substitution A T intron_variant PACA-CA X 24043769 24043769 single base substitution T C intron_variant PAEN-AU X 24004421 24004421 single base substitution A C 3_prime_UTR_variant PAEN-AU X 24027473 24027473 single base substitution G A intron_variant PAEN-AU X 24040652 24040652 single base substitution G C intron_variant PBCA-DE X 24004398 24004398 insertion of <=200bp - A 3_prime_UTR_variant PBCA-DE X 24007303 24007303 insertion of <=200bp - A intron_variant PBCA-DE X 24014437 24014437 single base substitution C A intron_variant PBCA-DE X 24021765 24021766 deletion of <=200bp TG - intron_variant PBCA-DE X 24023987 24023987 single base substitution A G intron_variant PBCA-DE X 24027883 24027883 deletion of <=200bp T - intron_variant PBCA-DE X 24031114 24031114 insertion of <=200bp - A intron_variant PBCA-DE X 24037762 24037763 deletion of <=200bp AC - intron_variant PBCA-DE X 24043270 24043270 single base substitution C T intron_variant PBCA-DE X 24049189 24049189 single base substitution T C upstream_gene_variant PRAD-CA X 24004462 24004462 single base substitution A G 3_prime_UTR_variant PRAD-CA X 24031317 24031317 single base substitution C A intron_variant PRAD-CA X 24040122 24040122 single base substitution C A intron_variant PRAD-CA X 24043044 24043044 single base substitution G A 5_prime_UTR_variant PRAD-UK X 24020027 24020027 single base substitution G A intron_variant RECA-EU X 24001681 24001681 single base substitution C T downstream_gene_variant RECA-EU X 24011559 24011559 single base substitution G A intron_variant SKCA-BR X 23998467 23998467 single base substitution G A downstream_gene_variant SKCA-BR X 24003529 24003529 single base substitution G A 3_prime_UTR_variant SKCA-BR X 24006029 24006029 single base substitution A C 3_prime_UTR_variant SKCA-BR X 24006062 24006062 single base substitution C T synonymous_variant L597L 1791G>A SKCA-BR X 24009108 24009108 single base substitution A C intron_variant SKCA-BR X 24010850 24010850 single base substitution G T intron_variant SKCA-BR X 24015847 24015847 insertion of <=200bp - CA intron_variant SKCA-BR X 24016335 24016335 single base substitution C T intron_variant SKCA-BR X 24020720 24020721 deletion of <=200bp GT - intron_variant SKCA-BR X 24021764 24021768 deletion of <=200bp ATGTG - intron_variant SKCA-BR X 24022624 24022624 single base substitution T A intron_variant SKCA-BR X 24031360 24031360 single base substitution C A intron_variant SKCA-BR X 24033041 24033041 single base substitution C A intron_variant SKCA-BR X 24035938 24035938 single base substitution C T intron_variant SKCA-BR X 24043740 24043740 single base substitution T G intron_variant SKCA-BR X 24044686 24044686 single base substitution A C intron_variant SKCA-BR X 24045851 24045851 single base substitution C T upstream_gene_variant SKCA-BR X 24046026 24046026 single base substitution G A upstream_gene_variant SKCA-BR X 24046599 24046599 single base substitution G A upstream_gene_variant SKCA-BR X 24047980 24047980 single base substitution G A upstream_gene_variant SKCA-BR X 24048190 24048190 single base substitution G A upstream_gene_variant SKCA-BR X 24049610 24049610 single base substitution G C upstream_gene_variant SKCA-BR X 24049846 24049846 single base substitution G A upstream_gene_variant SKCM-US X 24006085 24006085 single base substitution G A synonymous_variant L590L 1768C>T SKCM-US X 24006308 24006308 single base substitution G A synonymous_variant Y515Y 1545C>T SKCM-US X 24006591 24006591 single base substitution C T missense_variant G421E 1262G>A SKCM-US X 24006813 24006813 single base substitution G A missense_variant S347F 1040C>T SKCM-US X 24006881 24006881 single base substitution G A synonymous_variant I324I 972C>T SKCM-US X 24006997 24006997 single base substitution G A stop_gained R286* 856C>T SKCM-US X 24007015 24007015 single base substitution G A missense_variant P280S 838C>T SKCM-US X 24024370 24024370 single base substitution G A synonymous_variant I147I 441C>T STAD-US X 24006408 24006408 single base substitution T G missense_variant K482T 1445A>C STAD-US X 24006435 24006435 single base substitution T G missense_variant K473T 1418A>C STAD-US X 24006748 24006748 single base substitution G A missense_variant R369C 1105C>T STAD-US X 24024572 24024572 single base substitution G C missense_variant T80S 239C>G UCEC-US X 24006124 24006124 single base substitution G A missense_variant R577W 1729C>T UCEC-US X 24006224 24006224 single base substitution T G missense_variant Q543H 1629A>C UCEC-US X 24006660 24006660 single base substitution C A missense_variant R398I 1193G>T UCEC-US X 24006900 24006900 single base substitution C T missense_variant R318Q 953G>A UCEC-US X 24006939 24006939 single base substitution C A missense_variant R305I 914G>T UCEC-US X 24006955 24006955 single base substitution G T missense_variant L300I 898C>A UCEC-US X 24007103 24007103 single base substitution G A synonymous_variant Y250Y 750C>T UCEC-US X 24024180 24024180 single base substitution G A missense_variant R211C 631C>T UCEC-US X 24024329 24024329 single base substitution T G missense_variant N161T 482A>C UCEC-US X 24024380 24024380 single base substitution C T missense_variant G144D 431G>A UCEC-US X 24024528 24024528 single base substitution C A stop_gained E95* 283G>T UCEC-US X 24024640 24024640 single base substitution T G missense_variant R57S 171A>C UCEC-US X 24024641 24024641 single base substitution C A missense_variant R57I 170G>T UCEC-US X 24024677 24024677 single base substitution T C missense_variant H45R 134A>G UCEC-US X 24024737 24024737 single base substitution T A missense_variant Y25F 74A>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-GC-A3RC-01 COSM3800547 c.1552G>A p.E518K Substitution - Missense 23:23988184-23988184 - TCGA-22-4601-01 COSM756483 c.1704C>A p.N568K Substitution - Missense 23:23988032-23988032 - Pat_66_A COSM5877652 c.1547A>G p.N516S Substitution - Missense 23:23988189-23988189 - S01020 COSM5665488 c.1034C>A p.A345D Substitution - Missense 23:23988702-23988702 - Pat_46_B COSM5877654 c.1103C>T p.P368L Substitution - Missense 23:23988633-23988633 - TCGA-BS-A0UV-01 COSM1119401 c.898C>A p.L300I Substitution - Missense 23:23988838-23988838 - NCI-H23 COSM1196389 c.1376G>T p.R459M Substitution - Missense 23:23988360-23988360 - 56512 COSM1582905 c.1400G>A p.C467Y Substitution - Missense 23:23988336-23988336 - TCGA-FD-A3SL-01 COSM3800548 c.554A>G p.D185G Substitution - Missense 23:24006140-24006140 - LUAD-B01970 COSM356255 c.1703A>C p.N568T Substitution - Missense 23:23988033-23988033 - HCT8 COSM4635800 c.1651T>C p.C551R Substitution - Missense 23:23988085-23988085 - HCC2998 COSM1682457 c.1480G>A p.G494S Substitution - Missense 23:23988256-23988256 - FM474T COSM673744 c.811A>T p.K271* Substitution - Nonsense 23:23988925-23988925 - TCGA-B5-A0JY-01 COSM1119402 c.750C>T p.Y250Y Substitution - coding silent 23:23988986-23988986 - TCGA-D1-A0ZO-01 COSM1119412 c.74A>T p.Y25F Substitution - Missense 23:24006620-24006620 - Au3 COSM5601706 c.1677C>T p.S559S Substitution - coding silent 23:23988059-23988059 - TCGA-AX-A063-01 COSM1119399 c.953G>A p.R318Q Substitution - Missense 23:23988783-23988783 - ESCC_BICR_036T COSM5432285 c.579A>T p.P193P Substitution - coding silent 23:24006115-24006115 - LUAD-B01970 COSM356256 c.1396A>C p.N466H Substitution - Missense 23:23988340-23988340 - TCGA-EE-A3AF-06 COSM3560494 c.856C>T p.R286* Substitution - Nonsense 23:23988880-23988880 - 49M COSM5591558 c.589C>T p.L197L Substitution - coding silent 23:24006105-24006105 - TCGA-39-5031-01 COSM756482 c.76G>A p.E26K Substitution - Missense 23:24006618-24006618 - YULONE COSM5412471 c.1792G>A p.D598N Substitution - Missense 23:23987944-23987944 - Pat_11_A COSM5877653 c.1513G>A p.E505K Substitution - Missense 23:23988223-23988223 - TCGA-HU-8602-01 COSM4108705 c.1105C>T p.R369C Substitution - Missense 23:23988631-23988631 - TCGA-AO-A03M-01 COSM3844363 c.16G>T p.E6* Substitution - Nonsense 23:24006678-24006678 - TCGA-ER-A19P-06 COSM3560491 c.1262G>A p.G421E Substitution - Missense 23:23988474-23988474 - TCGA-A3-3367-01 COSM488266 c.1431G>T p.A477A Substitution - coding silent 23:23988305-23988305 - TCGA-06-0216-01 COSM3406239 c.1294G>A p.G432S Substitution - Missense 23:23988442-23988442 - TCGA-13-0885-01 COSM79213 c.1709G>A p.W570* Substitution - Nonsense 23:23988027-23988027 - BCM723T COSM4956476 c.323C>T p.A108V Substitution - Missense 23:24006371-24006371 - Au2 COSM5599792 c.825C>T p.I275I Substitution - coding silent 23:23988911-23988911 - SNUH_G33_S1 COSM3681742 c.261A>G p.Q87Q Substitution - coding silent 23:24006433-24006433 - TCGA-HP-A5N0-01 COSM4942227 c.1762T>G p.C588G Substitution - Missense 23:23987974-23987974 - I2L-P28-Tumor-Organoid COSM5368046 c.1099_1100insG p.V367fs*5 Insertion - Frameshift 23:23988636-23988637 - TCGA-CG-4477-01 COSM4108706 c.239C>G p.T80S Substitution - Missense 23:24006455-24006455 - 587256 COSM1212615 c.860G>A p.G287E Substitution - Missense 23:23988876-23988876 - MMG1 COSM3727569 c.270C>G p.Y90* Substitution - Nonsense 23:24006424-24006424 - TCGA-AX-A063-01 COSM1119407 c.431G>A p.G144D Substitution - Missense 23:24006263-24006263 - sysucc-311T COSM5467871 c.244T>G p.F82V Substitution - Missense 23:24006450-24006450 - TCGA-FW-A5DY-06 COSM3560492 c.1040C>T p.S347F Substitution - Missense 23:23988696-23988696 - TCGA-FR-A3YO-06 COSM3560496 c.441C>T p.I147I Substitution - coding silent 23:24006253-24006253 - TCGA-BG-A0M8-01 COSM1119397 c.1156G>A p.G386S Substitution - Missense 23:23988580-23988580 - TCGA-G3-A7M5-01 COSM4941807 c.1160G>T p.R387I Substitution - Missense 23:23988576-23988576 - TCGA-JW-A5VL-01 COSM4847890 c.1720G>A p.E574K Substitution - Missense 23:23988016-23988016 - 2492702 COSM5599792 c.825C>T p.I275I Substitution - coding silent 23:23988911-23988911 - 08-P054 COSM1119406 c.433G>A p.V145I Substitution - Missense 23:24006261-24006261 - Pat_40_B COSM5877656 c.313C>T p.L105F Substitution - Missense 23:24006381-24006381 - TCGA-AN-A049-01 COSM457282 c.649_650insA p.T217fs*18 Insertion - Frameshift 23:24006044-24006045 - TCGA-BS-A0UV-01 COSM1119409 c.171A>C p.R57S Substitution - Missense 23:24006523-24006523 - T3262 COSM4696472 c.1016C>T p.P339L Substitution - Missense 23:23988720-23988720 - TCGA-EE-A29N-06 COSM3560489 c.1768C>T p.L590L Substitution - coding silent 23:23987968-23987968 - XHDG04 COSM3844362 c.1062G>A p.P354P Substitution - coding silent 23:23988674-23988674 - LC_S45 COSM1190514 c.261A>C p.Q87H Substitution - Missense 23:24006433-24006433 - HCC98 COSM1625790 c.1444A>C p.K482Q Substitution - Missense 23:23988292-23988292 - TCGA-A5-A0GP-01 COSM1119408 c.283G>T p.E95* Substitution - Nonsense 23:24006411-24006411 - HCC98T COSM1625790 c.1444A>C p.K482Q Substitution - Missense 23:23988292-23988292 - TCGA-EA-A5FO-01 COSM4649407 c.1428C>T p.Y476Y Substitution - coding silent 23:23988308-23988308 - TCGA-C5-A1BL-01 COSM4836895 c.567G>A p.L189L Substitution - coding silent 23:24006127-24006127 - Pat_45_B COSM5877655 c.692G>A p.S231N Substitution - Missense 23:24006002-24006002 - BZ21 COSM5297682 c.1369C>T p.R457W Substitution - Missense 23:23988367-23988367 - HCC1008 COSM51120 c.1284G>A p.L428L Substitution - coding silent 23:23988452-23988452 - TCGA-BG-A0M4-01 COSM1119394 c.1729C>T p.R577W Substitution - Missense 23:23988007-23988007 - CHC1704T COSM4804085 c.1262G>T p.G421V Substitution - Missense 23:23988474-23988474 - TCGA-D3-A3MV-06 COSM3560493 c.972C>T p.I324I Substitution - coding silent 23:23988764-23988764 - 66 COSM5744116 c.826C>T p.R276C Substitution - Missense 23:23988910-23988910 - 2492703 COSM5599792 c.825C>T p.I275I Substitution - coding silent 23:23988911-23988911 - LC_C6 COSM1190513 c.1552G>T p.E518* Substitution - Nonsense 23:23988184-23988184 - TCGA-B0-4852-01 COSM488267 c.713C>A p.T238K Substitution - Missense 23:23989023-23989023 - TCGA-B5-A0JR-01 COSM1119406 c.433G>A p.V145I Substitution - Missense 23:24006261-24006261 - TCGA-A7-A4SC-01 COSM3844362 c.1062G>A p.P354P Substitution - coding silent 23:23988674-23988674 - ESCC-211T COSM3939926 c.759C>A p.D253E Substitution - Missense 23:23988977-23988977 - TCGA-EE-A2MR-06 COSM3560490 c.1545C>T p.Y515Y Substitution - coding silent 23:23988191-23988191 - YULONE COSM5412473 c.1134G>A p.G378G Substitution - coding silent 23:23988602-23988602 - LUAD-D01382 COSM363051 c.1746G>T p.L582L Substitution - coding silent 23:23987990-23987990 - 12M COSM5577544 c.1319C>T p.S440F Substitution - Missense 23:23988417-23988417 - S02322 COSM5691658 c.1003delG p.E335fs*40 Deletion - Frameshift 23:23988733-23988733 - Pat_40_A COSM5877656 c.313C>T p.L105F Substitution - Missense 23:24006381-24006381 - TCGA-AP-A056-01 COSM1119395 c.1629A>C p.Q543H Substitution - Missense 23:23988107-23988107 - N554T COSM236282 c.407T>G p.I136S Substitution - Missense 23:24006287-24006287 - BCM723T COSM4956476 c.323C>T p.A108V Substitution - Missense 23:24006371-24006371 - TCGA-D1-A103-01 COSM1119410 c.170G>T p.R57I Substitution - Missense 23:24006524-24006524 - 2492701 COSM5599792 c.825C>T p.I275I Substitution - coding silent 23:23988911-23988911 - TCGA-BG-A0M8-01 COSM1119398 c.1155A>C p.A385A Substitution - coding silent 23:23988581-23988581 - ESO-1163 COSM1255961 c.1248delA p.K416fs*39 Deletion - Frameshift 23:23988488-23988488 - SW1463 COSM3037097 c.1251T>C p.Y417Y Substitution - coding silent 23:23988485-23988485 - CSCC-62-T COSM4469512 c.1602C>T p.G534G Substitution - coding silent 23:23988134-23988134 - TCGA-BR-6452-01 COSM4108703 c.1445A>C p.K482T Substitution - Missense 23:23988291-23988291 - TCGA-D1-A17Q-01 COSM1119396 c.1193G>T p.R398I Substitution - Missense 23:23988543-23988543 - SNU-175 COSM3037105 c.377C>T p.A126V Substitution - Missense 23:24006317-24006317 - TCGA-CD-5801-01 COSM4108704 c.1418A>C p.K473T Substitution - Missense 23:23988318-23988318 - 2492700 COSM5599792 c.825C>T p.I275I Substitution - coding silent 23:23988911-23988911 - sysucc-1370T COSM5472864 c.301G>A p.V101I Substitution - Missense 23:24006393-24006393 - H23 COSM1196389 c.1376G>T p.R459M Substitution - Missense 23:23988360-23988360 - TCGA-EE-A29R-06 COSM3560495 c.838C>T p.P280S Substitution - Missense 23:23988898-23988898 - TCGA-E7-A3Y1-01 COSM3800548 c.554A>G p.D185G Substitution - Missense 23:24006140-24006140 - PDA_095 COSM5003228 c.1157G>T p.G386V Substitution - Missense 23:23988579-23988579 - KPOPBR-03-T COSM5965169 c.94G>A p.D32N Substitution - Missense 23:24006600-24006600 - TCGA-D1-A0ZS-01 COSM1119403 c.632G>A p.R211H Substitution - Missense 23:24006062-24006062 - TCGA-BH-A1F8-01 COSM1490798 c.300C>T p.T100T Substitution - coding silent 23:24006394-24006394 - TCGA-BS-A0UF-01 COSM1119405 c.482A>C p.N161T Substitution - Missense 23:24006212-24006212 - T578 COSM275758 c.1479C>T p.F493F Substitution - coding silent 23:23988257-23988257 - CSCC-44-T COSM4548797 c.456G>C p.E152D Substitution - Missense 23:24006238-24006238 - S02397 COSM5699516 c.1345A>G p.S449G Substitution - Missense 23:23988391-23988391 - YUPAER COSM5412472 c.1647C>T p.G549G Substitution - coding silent 23:23988089-23988089 - 8050939 COSM3390570 c.594C>A p.Y198* Substitution - Nonsense 23:24006100-24006100 - TCGA-D1-A17B-01 COSM1119404 c.631C>T p.R211C Substitution - Missense 23:24006063-24006063 - RKO COSM4649407 c.1428C>T p.Y476Y Substitution - coding silent 23:23988308-23988308 - TCGA-AX-A0J0-01 COSM1119400 c.914G>T p.R305I Substitution - Missense 23:23988822-23988822 - TCGA-AX-A0J0-01 COSM1119411 c.134A>G p.H45R Substitution - Missense 23:24006560-24006560 - TCGA-R2-A69V-01 COSM4851162 c.1512C>T p.F504F Substitution - coding silent 23:23988224-23988224 - HCC2998 COSM1682457 c.1480G>A p.G494S Substitution - Missense 23:23988256-23988256 - sysucc-880T COSM5463851 c.858A>G p.R286R Substitution - coding silent 23:23988878-23988878 - SNU-C2B COSM3037101 c.727A>G p.R243G Substitution - Missense 23:23989009-23989009 - TCGA-A6-5665-01 COSM3694505 c.1293C>T p.T431T Substitution - coding silent 23:23988443-23988443 - I2L-P7-Tumor-Organoid COSM5367499 c.969T>C p.A323A Substitution - coding silent 23:23988767-23988767 - TCGA-DU-7302-01 COSM3973562 c.1113A>G p.E371E Substitution - coding silent 23:23988623-23988623 - TCGA-AA-A00N-01 COSM275758 c.1479C>T p.F493F Substitution - coding silent 23:23988257-23988257 - CHC1704T COSM4804085 c.1262G>T p.G421V Substitution - Missense 23:23988474-23988474 - S02293 COSM5688626 c.1055A>G p.Y352C Substitution - Missense 23:23988681-23988681 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.495854 Xp22.1-p21

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.G334W c.1000G>T X 24006853 CM C A Nonsense p.E95* c.283G>T X 24024528 UCEC C A Synonymous p.A477A c.1431G>T X 24006422 RCCC C A Synonymous p.L582L c.1746G>T X 24006107 LUAD C - Frameshift p.V384*fs*1 c.1150delG X 24006703 LUAD C G Missense p.G433A c.1298G>C X 24006555 LUAD C G Missense p.G7A c.20G>C X 24024791 COREAD C T IntronicSNV . c.1-11280G>A X 24036090 CLL C T Missense p.E26K c.76G>A X 24024735 LUSC C T Missense p.G144D c.431G>A X 24024380 UCEC C T Missense p.G144S c.430G>A X 24024381 HNSC C T Missense p.G421E c.1262G>A X 24006591 CM C T Missense p.G432S c.1294G>A X 24006559 GBM C T Missense p.R318Q c.953G>A X 24006900 UCEC C T Missense p.S449N c.1346G>A X 24006507 HNSC C T Nonsense p.W570* c.1709G>A X 24006144 OV C T Synonymous p.R223R c.669G>A X 24024142 CM C T Synonymous p.R577R c.1731G>A X 24006122 CM G A Missense p.P280S c.838C>T X 24007015 CM G A Missense p.R211C c.631C>T X 24024180 UCEC G A Missense p.R577W c.1729C>T X 24006124 UCEC G A Missense p.T156I c.467C>T X 24024344 CM G A Nonsense p.R286* c.856C>T X 24006997 CM G A Synonymous p.I324I c.972C>T X 24006881 CM G A Synonymous p.L590L c.1768C>T X 24006085 CM G A Synonymous p.T100T c.300C>T X 24024511 BRCA G C Missense p.T80S c.239C>G X 24024572 STAD G C Nonsense p.S272* c.815C>G X 24007038 BRCA G T Missense p.N568K c.1704C>A X 24006149 LUSC G T Missense p.P193Q c.578C>A X 24024233 STAD G T Missense p.T238K c.713C>A X 24007140 RCCC T A Missense p.Y25F c.74A>T X 24024737 UCEC T C Missense p.T512A c.1534A>G X 24006319 LUAD T C Synonymous p.E371E c.1113A>G X 24006740 LGG T - Frameshift p.K416Nfs*39 c.1248delA X 24006605 ESCA - T Frameshift p.T217Nfs*18 c.649dupA X 24024162 BRCA T G Missense p.K473T c.1418A>C X 24006435 STAD