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 100615077 100615077 + Splice_Site SNP C C A TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chrX:100615077C>A c.838G>T c.(838-840)Gag>Tag p.E280* BLCA 23 100608277 100608277 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chrX:100608277C>T c.1813G>A c.(1813-1815)Gag>Aag p.E605K BLCA 23 100608331 100608331 + Missense_Mutation SNP T T A TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chrX:100608331T>A c.1759A>T c.(1759-1761)Atg>Ttg p.M587L BLCA 23 100611193 100611193 + Silent SNP G G A TCGA-XF-A9SI-01A-11D-A391-08 TCGA-XF-A9SI-10A-01D-A394-08 g.chrX:100611193G>A c.1413C>T c.(1411-1413)ttC>ttT p.F471F BLCA 23 100611774 100611774 + Missense_Mutation SNP C C A TCGA-GU-A42P-01A-11D-A23U-08 TCGA-GU-A42P-10A-01D-A23U-08 g.chrX:100611774C>A c.1347G>T c.(1345-1347)atG>atT p.M449I BLCA 23 100617172 100617172 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 g.chrX:100617172C>T c.577G>A c.(577-579)Gag>Aag p.E193K BLCA 23 100617587 100617587 + Missense_Mutation SNP T T G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 g.chrX:100617587T>G c.482A>C c.(481-483)aAt>aCt p.N161T BRCA 23 100609675 100609675 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chrX:100609675C>G c.1574G>C c.(1573-1575)cGa>cCa p.R525P BRCA 23 100613405 100613405 + Missense_Mutation SNP C C T TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 g.chrX:100613405C>T c.995G>A c.(994-996)cGt>cAt p.R332H BRCA 23 100614283 100614283 + Missense_Mutation SNP C C T TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 g.chrX:100614283C>T c.892G>A c.(892-894)Gag>Aag p.E298K BRCA 23 100615095 100615095 + Missense_Mutation SNP C C T TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 g.chrX:100615095C>T c.820G>A c.(820-822)Gac>Aac p.D274N BRCA 23 100615648 100615648 + Missense_Mutation SNP C C G TCGA-A2-A0CX-01A-21W-A019-09 TCGA-A2-A0CX-10A-01W-A021-09 g.chrX:100615648C>G c.684G>C c.(682-684)atG>atC p.M228I BRCA 23 100617172 100617172 + Missense_Mutation SNP C C T TCGA-BH-A42V-01A-11D-A243-09 TCGA-BH-A42V-10A-01D-A243-09 g.chrX:100617172C>T c.577G>A c.(577-579)Gag>Aag p.E193K BRCA 23 100617649 100617649 + Silent SNP C C T TCGA-GM-A2D9-01A-11D-A18P-09 TCGA-GM-A2D9-11A-42D-A18P-09 g.chrX:100617649C>T c.420G>A c.(418-420)caG>caA p.Q140Q BRCA 23 100629586 100629586 + Missense_Mutation SNP T T C TCGA-D8-A1X9-01A-12D-A159-09 TCGA-D8-A1X9-10A-01D-A17G-09 g.chrX:100629586T>C c.178A>G c.(178-180)Aag>Gag p.K60E CESC 23 100604945 100604945 + Splice_Site SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 g.chrX:100604945C>G c.e19-1 CESC 23 100608249 100608249 + Missense_Mutation SNP A A T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 g.chrX:100608249A>T c.1841T>A c.(1840-1842)cTa>cAa p.L614Q CESC 23 100613379 100613379 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chrX:100613379G>C c.1021C>G c.(1021-1023)Cag>Gag p.Q341E CESC 23 100613645 100613645 + Missense_Mutation SNP C C A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 g.chrX:100613645C>A c.934G>T c.(934-936)Gct>Tct p.A312S COAD 23 100608272 100608272 + Silent SNP A A C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chrX:100608272A>C c.1818T>G c.(1816-1818)acT>acG p.T606T COAD 23 100608283 100608283 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chrX:100608283T>C c.1807A>G c.(1807-1809)Aac>Gac p.N603D COAD 23 100611047 100611047 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chrX:100611047C>T c.1559G>A c.(1558-1560)cGa>cAa p.R520Q COAD 23 100611131 100611131 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chrX:100611131C>T c.1475G>A c.(1474-1476)cGc>cAc p.R492H COAD 23 100611134 100611134 + Missense_Mutation SNP T T C TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chrX:100611134T>C c.1472A>G c.(1471-1473)cAc>cGc p.H491R COAD 23 100611138 100611138 + Missense_Mutation SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chrX:100611138G>A c.1468C>T c.(1468-1470)Cgc>Tgc p.R490C COAD 23 100612522 100612522 + Silent SNP T T C TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chrX:100612522T>C c.1152A>G c.(1150-1152)gcA>gcG p.A384A COAD 23 100613399 100613399 + Missense_Mutation SNP T T C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chrX:100613399T>C c.1001A>G c.(1000-1002)tAt>tGt p.Y334C COAD 23 100614312 100614312 + Missense_Mutation SNP C C T TCGA-AA-3956-01A-02W-0995-10 TCGA-AA-3956-10A-01W-0995-10 g.chrX:100614312C>T c.863G>A c.(862-864)cGg>cAg p.R288Q COAD 23 100617180 100617180 + Missense_Mutation SNP G G T TCGA-D5-6931-01A-11D-1924-10 TCGA-D5-6931-10A-01D-1924-10 g.chrX:100617180G>T c.569C>A c.(568-570)cCa>cAa p.P190Q COAD 23 100617223 100617223 + Missense_Mutation SNP T T G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chrX:100617223T>G c.526A>C c.(526-528)Aaa>Caa p.K176Q COAD 23 100629612 100629612 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chrX:100629612C>T c.152G>A c.(151-153)aGt>aAt p.S51N COAD 23 100630268 100630268 + Missense_Mutation SNP G G A TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chrX:100630268G>A c.5C>T c.(4-6)gCc>gTc p.A2V COADREAD 23 100608272 100608272 + Silent SNP A A C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chrX:100608272A>C c.1818T>G c.(1816-1818)acT>acG p.T606T COADREAD 23 100608283 100608283 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chrX:100608283T>C c.1807A>G c.(1807-1809)Aac>Gac p.N603D COADREAD 23 100608290 100608290 + Silent SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:100608290T>C c.1800A>G c.(1798-1800)agA>agG p.R600R COADREAD 23 100611047 100611047 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chrX:100611047C>T c.1559G>A c.(1558-1560)cGa>cAa p.R520Q COADREAD 23 100611131 100611131 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chrX:100611131C>T c.1475G>A c.(1474-1476)cGc>cAc p.R492H COADREAD 23 100611134 100611134 + Missense_Mutation SNP T T C TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chrX:100611134T>C c.1472A>G c.(1471-1473)cAc>cGc p.H491R COADREAD 23 100611138 100611138 + Missense_Mutation SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chrX:100611138G>A c.1468C>T c.(1468-1470)Cgc>Tgc p.R490C COADREAD 23 100612498 100612498 + Splice_Site SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:100612498G>A c.1176C>T c.(1174-1176)taC>taT p.Y392Y COADREAD 23 100612522 100612522 + Silent SNP T T C TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chrX:100612522T>C c.1152A>G c.(1150-1152)gcA>gcG p.A384A COADREAD 23 100613399 100613399 + Missense_Mutation SNP T T C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chrX:100613399T>C c.1001A>G c.(1000-1002)tAt>tGt p.Y334C COADREAD 23 100613405 100613405 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:100613405C>T c.995G>A c.(994-996)cGt>cAt p.R332H COADREAD 23 100614312 100614312 + Missense_Mutation SNP C C T TCGA-AA-3956-01A-02W-0995-10 TCGA-AA-3956-10A-01W-0995-10 g.chrX:100614312C>T c.863G>A c.(862-864)cGg>cAg p.R288Q COADREAD 23 100617180 100617180 + Missense_Mutation SNP G G T TCGA-D5-6931-01A-11D-1924-10 TCGA-D5-6931-10A-01D-1924-10 g.chrX:100617180G>T c.569C>A c.(568-570)cCa>cAa p.P190Q COADREAD 23 100617223 100617223 + Missense_Mutation SNP T T G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chrX:100617223T>G c.526A>C c.(526-528)Aaa>Caa p.K176Q COADREAD 23 100629581 100629581 + Silent SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:100629581G>T c.183C>A c.(181-183)atC>atA p.I61I COADREAD 23 100629612 100629612 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chrX:100629612C>T c.152G>A c.(151-153)aGt>aAt p.S51N COADREAD 23 100630268 100630268 + Missense_Mutation SNP G G A TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chrX:100630268G>A c.5C>T c.(4-6)gCc>gTc p.A2V DLBC 23 100612565 100612565 + Missense_Mutation SNP A A G TCGA-G8-6907-01A-11D-2210-10 TCGA-G8-6907-14A-01D-2210-10 g.chrX:100612565A>G c.1109T>C c.(1108-1110)aTa>aCa p.I370T DLBC 23 100613634 100613634 + Nonsense_Mutation SNP A A C TCGA-GS-A9TQ-01A-11D-A382-10 TCGA-GS-A9TQ-10A-01D-A385-10 g.chrX:100613634A>C c.945T>G c.(943-945)taT>taG p.Y315* DLBC 23 100617218 100617218 + Silent SNP A A G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chrX:100617218A>G c.531T>C c.(529-531)ccT>ccC p.P177P ESCA 23 100611043 100611043 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 g.chrX:100611043G>T c.1563C>A c.(1561-1563)gaC>gaA p.D521E ESCA 23 100614296 100614296 + Silent SNP T T C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 g.chrX:100614296T>C c.879A>G c.(877-879)caA>caG p.Q293Q GBM 23 100611084 100611084 + Missense_Mutation SNP C C T TCGA-06-0184-01A-01D-1491-08 TCGA-06-0184-10B-01D-1491-08 g.chrX:100611084C>T c.1522G>A c.(1522-1524)Gcc>Acc p.A508T GBM 23 100611220 100611220 + Silent SNP G G A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 g.chrX:100611220G>A c.1386C>T c.(1384-1386)ggC>ggT p.G462G GBMLGG 23 100604907 100604907 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:100604907C>A c.1946G>T c.(1945-1947)aGc>aTc p.S649I GBMLGG 23 100611084 100611084 + Missense_Mutation SNP C C T TCGA-06-0184-01A-01D-1491-08 TCGA-06-0184-10B-01D-1491-08 g.chrX:100611084C>T c.1522G>A c.(1522-1524)Gcc>Acc p.A508T GBMLGG 23 100611220 100611220 + Silent SNP G G A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 g.chrX:100611220G>A c.1386C>T c.(1384-1386)ggC>ggT p.G462G GBMLGG 23 100613413 100613413 + Silent SNP C C A TCGA-DU-5852-01A-11D-1705-08 TCGA-DU-5852-10A-01D-1705-08 g.chrX:100613413C>A c.987G>T c.(985-987)ggG>ggT p.G329G GBMLGG 23 100615566 100615566 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:100615566C>A c.766G>T c.(766-768)Gat>Tat p.D256Y GBMLGG 23 100615678 100615678 + Silent SNP C C T TCGA-P5-A5F4-01A-11D-A289-08 TCGA-P5-A5F4-10A-01D-A289-08 g.chrX:100615678C>T c.654G>A c.(652-654)aaG>aaA p.K218K GBMLGG 23 100617592 100617592 + Silent SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 g.chrX:100617592G>A c.477C>T c.(475-477)gcC>gcT p.A159A GBMLGG 23 100630146 100630146 + Missense_Mutation SNP C C T TCGA-DU-A5TU-01A-11D-A289-08 TCGA-DU-A5TU-10A-01D-A289-08 g.chrX:100630146C>T c.127G>A c.(127-129)Gac>Aac p.D43N HNSC 23 100604914 100604914 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chrX:100604914G>A c.1939C>T c.(1939-1941)Ctt>Ttt p.L647F HNSC 23 100608293 100608293 + Missense_Mutation SNP C C G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 g.chrX:100608293C>G c.1797G>C c.(1795-1797)gaG>gaC p.E599D HNSC 23 100608882 100608882 + Missense_Mutation SNP T T A TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chrX:100608882T>A c.1726A>T c.(1726-1728)Agc>Tgc p.S576C HNSC 23 100608907 100608907 + Missense_Mutation SNP T T A TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chrX:100608907T>A c.1701A>T c.(1699-1701)gaA>gaT p.E567D HNSC 23 100611872 100611873 + Frame_Shift_Ins INS - - CACTA TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 g.chrX:100611872_100611873insCACTA c.1248_1249insTAGTG c.(1246-1251)gtgaagfs p.K417fs HNSC 23 100615599 100615599 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 g.chrX:100615599C>T c.733G>A c.(733-735)Gag>Aag p.E245K HNSC 23 100617201 100617201 + Missense_Mutation SNP T T C TCGA-CV-A45Y-01A-11D-A25D-08 TCGA-CV-A45Y-10A-01D-A25E-08 g.chrX:100617201T>C c.548A>G c.(547-549)aAg>aGg p.K183R HNSC 23 100617676 100617676 + Splice_Site SNP T T A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 g.chrX:100617676T>A c.393A>T c.(391-393)gtA>gtT p.V131V HNSC 23 100617678 100617678 + Splice_Site SNP C C A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 g.chrX:100617678C>A c.e6-1 HNSC 23 100630177 100630177 + Silent SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 g.chrX:100630177C>T c.96G>A c.(94-96)ttG>ttA p.L32L HNSC 23 100630195 100630195 + Silent SNP C C T TCGA-P3-A6T0-01A-12D-A34J-08 TCGA-P3-A6T0-10A-01D-A34M-08 g.chrX:100630195C>T c.78G>A c.(76-78)aaG>aaA p.K26K LGG 23 100604907 100604907 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:100604907C>A c.1946G>T c.(1945-1947)aGc>aTc p.S649I LGG 23 100613413 100613413 + Silent SNP C C A TCGA-DU-5852-01A-11D-1705-08 TCGA-DU-5852-10A-01D-1705-08 g.chrX:100613413C>A c.987G>T c.(985-987)ggG>ggT p.G329G LGG 23 100615566 100615566 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:100615566C>A c.766G>T c.(766-768)Gat>Tat p.D256Y LGG 23 100615678 100615678 + Silent SNP C C T TCGA-P5-A5F4-01A-11D-A289-08 TCGA-P5-A5F4-10A-01D-A289-08 g.chrX:100615678C>T c.654G>A c.(652-654)aaG>aaA p.K218K LGG 23 100617592 100617592 + Silent SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 g.chrX:100617592G>A c.477C>T c.(475-477)gcC>gcT p.A159A LGG 23 100630146 100630146 + Missense_Mutation SNP C C T TCGA-DU-A5TU-01A-11D-A289-08 TCGA-DU-A5TU-10A-01D-A289-08 g.chrX:100630146C>T c.127G>A c.(127-129)Gac>Aac p.D43N LIHC 23 100608970 100608970 + Silent SNP G G C TCGA-G3-A7M6-01A-11D-A33Q-10 TCGA-G3-A7M6-10A-01D-A33Q-10 g.chrX:100608970G>C c.1638C>G c.(1636-1638)gtC>gtG p.V546V LUAD 23 100608222 100608222 + Nonsense_Mutation SNP G G T TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chrX:100608222G>T c.1868C>A c.(1867-1869)tCa>tAa p.S623* LUAD 23 100608946 100608946 + Silent SNP T T A TCGA-L9-A443-01A-12D-A24D-08 TCGA-L9-A443-10A-01D-A24F-08 g.chrX:100608946T>A c.1662A>T c.(1660-1662)tcA>tcT p.S554S LUAD 23 100609683 100609683 + Splice_Site SNP C C A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 g.chrX:100609683C>A c.e16-1 LUAD 23 100611118 100611118 + Missense_Mutation SNP C C G TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chrX:100611118C>G c.1488G>C c.(1486-1488)caG>caC p.Q496H LUAD 23 100611144 100611144 + Nonsense_Mutation SNP C C A TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chrX:100611144C>A c.1462G>T c.(1462-1464)Gag>Tag p.E488* LUAD 23 100611180 100611180 + Missense_Mutation SNP A A T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 g.chrX:100611180A>T c.1426T>A c.(1426-1428)Tac>Aac p.Y476N LUAD 23 100612562 100612562 + Missense_Mutation SNP G G A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 g.chrX:100612562G>A c.1112C>T c.(1111-1113)tCc>tTc p.S371F LUAD 23 100613310 100613310 + Missense_Mutation SNP G G T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chrX:100613310G>T c.1090C>A c.(1090-1092)Cac>Aac p.H364N LUAD 23 100613358 100613358 + Missense_Mutation SNP C C T TCGA-44-7661-01A-11D-2063-08 TCGA-44-7661-10A-01D-2063-08 g.chrX:100613358C>T c.1042G>A c.(1042-1044)Gag>Aag p.E348K LUAD 23 100613365 100613365 + Nonsense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 g.chrX:100613365G>T c.1035C>A c.(1033-1035)taC>taA p.Y345* LUAD 23 100615129 100615129 + Silent SNP G G A TCGA-17-Z052-01A-01W-0747-08 TCGA-17-Z052-11A-01W-0747-08 g.chrX:100615129G>A c.786C>T c.(784-786)ggC>ggT p.G262G LUAD 23 100615557 100615557 + Splice_Site SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chrX:100615557C>A c.775G>T c.(775-777)Ggg>Tgg p.G259W LUAD 23 100615599 100615599 + Missense_Mutation SNP C C G TCGA-55-A48X-01A-11D-A24D-08 TCGA-55-A48X-10A-01D-A24F-08 g.chrX:100615599C>G c.733G>C c.(733-735)Gag>Cag p.E245Q LUAD 23 100615743 100615743 + Splice_Site SNP T T C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 g.chrX:100615743T>C c.589A>G c.(589-591)Atc>Gtc p.I197V LUAD 23 100617167 100617167 + Missense_Mutation SNP C C A TCGA-44-3398-01A-01D-1105-08 TCGA-44-3398-10A-01D-1105-08 g.chrX:100617167C>A c.582G>T c.(580-582)gaG>gaT p.E194D LUAD 23 100617171 100617171 + Missense_Mutation SNP T T A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 g.chrX:100617171T>A c.578A>T c.(577-579)gAg>gTg p.E193V LUAD 23 100617217 100617217 + Missense_Mutation SNP C C A TCGA-55-A48X-01A-11D-A24D-08 TCGA-55-A48X-10A-01D-A24F-08 g.chrX:100617217C>A c.532G>T c.(532-534)Ggg>Tgg p.G178W LUAD 23 100617575 100617575 + Missense_Mutation SNP C C T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 g.chrX:100617575C>T c.494G>A c.(493-495)tGc>tAc p.C165Y LUAD 23 100617598 100617598 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 g.chrX:100617598C>A c.471G>T c.(469-471)caG>caT p.Q157H LUAD 23 100617612 100617612 + Missense_Mutation SNP G G A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 g.chrX:100617612G>A c.457C>T c.(457-459)Ctc>Ttc p.L153F LUAD 23 100617624 100617624 + Missense_Mutation SNP C C G TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chrX:100617624C>G c.445G>C c.(445-447)Gat>Cat p.D149H LUAD 23 100617635 100617635 + Missense_Mutation SNP C C G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 g.chrX:100617635C>G c.434G>C c.(433-435)tGc>tCc p.C145S LUAD 23 100625027 100625027 + Missense_Mutation SNP G G A TCGA-MP-A4T4-01A-11D-A25L-08 TCGA-MP-A4T4-10A-01D-A25L-08 g.chrX:100625027G>A c.350C>T c.(349-351)aCt>aTt p.T117I LUAD 23 100626677 100626677 + Nonsense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chrX:100626677C>A c.253G>T c.(253-255)Gag>Tag p.E85* LUAD 23 100630242 100630242 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 g.chrX:100630242G>C c.31C>G c.(31-33)Ctg>Gtg p.L11V LUAD 23 100630266 100630266 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 g.chrX:100630266C>A c.7G>T c.(7-9)Gca>Tca p.A3S LUSC 23 100604918 100604918 + Missense_Mutation SNP T T G TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 g.chrX:100604918T>G c.1935A>C c.(1933-1935)aaA>aaC p.K645N LUSC 23 100611048 100611048 + Silent SNP G G T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 g.chrX:100611048G>T c.1558C>A c.(1558-1560)Cga>Aga p.R520R LUSC 23 100611126 100611126 + Missense_Mutation SNP G G T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 g.chrX:100611126G>T c.1480C>A c.(1480-1482)Cag>Aag p.Q494K LUSC 23 100611135 100611135 + Missense_Mutation SNP G G C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chrX:100611135G>C c.1471C>G c.(1471-1473)Cac>Gac p.H491D LUSC 23 100611771 100611771 + Splice_Site SNP C C A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 g.chrX:100611771C>A c.e14+1 LUSC 23 100613622 100613622 + Silent SNP C C G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 g.chrX:100613622C>G c.957G>C c.(955-957)gtG>gtC p.V319V LUSC 23 100615711 100615711 + Silent SNP T T C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 g.chrX:100615711T>C c.621A>G c.(619-621)gcA>gcG p.A207A LUSC 23 100617573 100617573 + Missense_Mutation SNP G G T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chrX:100617573G>T c.496C>A c.(496-498)Caa>Aaa p.Q166K LUSC 23 100630170 100630170 + Missense_Mutation SNP G G T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 g.chrX:100630170G>T c.103C>A c.(103-105)Cac>Aac p.H35N LUSC 23 100630231 100630231 + Silent SNP G G T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 g.chrX:100630231G>T c.42C>A c.(40-42)tcC>tcA p.S14S LUSC 23 100630267 100630267 + Frame_Shift_Del DEL G G - TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 g.chrX:100630267delG c.6delC c.(4-6)gccfs p.A3fs OV 23 100608315 100608315 + Missense_Mutation SNP G G A TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 g.chrX:100608315G>A c.1775C>T c.(1774-1776)tCc>tTc p.S592F OV 23 100617578 100617578 + Missense_Mutation SNP C C G TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 g.chrX:100617578C>G c.491G>C c.(490-492)gGc>gCc p.G164A OV 23 100617667 100617667 + Silent SNP G G A TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 g.chrX:100617667G>A c.402C>T c.(400-402)taC>taT p.Y134Y PAAD 23 100615114 100615114 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chrX:100615114G>A c.801C>T c.(799-801)aaC>aaT p.N267N PAAD 23 100630208 100630208 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chrX:100630208G>A c.65C>T c.(64-66)cCt>cTt p.P22L PRAD 23 100630266 100630266 + Missense_Mutation SNP C C A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 g.chrX:100630266C>A c.7G>T c.(7-9)Gca>Tca p.A3S READ 23 100608290 100608290 + Silent SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:100608290T>C c.1800A>G c.(1798-1800)agA>agG p.R600R READ 23 100612498 100612498 + Splice_Site SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:100612498G>A c.1176C>T c.(1174-1176)taC>taT p.Y392Y READ 23 100613405 100613405 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:100613405C>T c.995G>A c.(994-996)cGt>cAt p.R332H READ 23 100629581 100629581 + Silent SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:100629581G>T c.183C>A c.(181-183)atC>atA p.I61I SARC 23 100611813 100611813 + Silent SNP G G T TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 g.chrX:100611813G>T c.1308C>A c.(1306-1308)tcC>tcA p.S436S SARC 23 100615557 100615557 + Splice_Site SNP C C G TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 g.chrX:100615557C>G c.775G>C c.(775-777)Ggg>Cgg p.G259R SKCM 23 100608315 100608315 + Missense_Mutation SNP G G A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chrX:100608315G>A c.1775C>T c.(1774-1776)tCc>tTc p.S592F SKCM 23 100608324 100608324 + Missense_Mutation SNP T T C TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chrX:100608324T>C c.1766A>G c.(1765-1767)gAa>gGa p.E589G SKCM 23 100608963 100608963 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chrX:100608963C>T c.1645G>A c.(1645-1647)Gat>Aat p.D549N SKCM 23 100609665 100609665 + Missense_Mutation SNP C C A TCGA-D3-A2JO-06A-11D-A196-08 TCGA-D3-A2JO-10A-01D-A198-08 g.chrX:100609665C>A c.1584G>T c.(1582-1584)ttG>ttT p.L528F SKCM 23 100611058 100611058 + Silent SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chrX:100611058C>T c.1548G>A c.(1546-1548)caG>caA p.Q516Q SKCM 23 100611929 100611929 + Missense_Mutation SNP C C T TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chrX:100611929C>T c.1192G>A c.(1192-1194)Gat>Aat p.D398N SKCM 23 100612548 100612548 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chrX:100612548G>A c.1126C>T c.(1126-1128)Cca>Tca p.P376S SKCM 23 100613678 100613678 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 g.chrX:100613678C>T c.901G>A c.(901-903)Gaa>Aaa p.E301K SKCM 23 100615121 100615121 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 g.chrX:100615121G>A c.794C>T c.(793-795)cCt>cTt p.P265L SKCM 23 100615596 100615596 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 g.chrX:100615596C>T c.736G>A c.(736-738)Gaa>Aaa p.E246K SKCM 23 100617210 100617210 + Missense_Mutation SNP G G A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chrX:100617210G>A c.539C>T c.(538-540)tCt>tTt p.S180F SKCM 23 100625005 100625005 + Nonsense_Mutation SNP C C T TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chrX:100625005C>T c.372G>A c.(370-372)tgG>tgA p.W124* SKCM 23 100625006 100625006 + Nonsense_Mutation SNP C C T TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chrX:100625006C>T c.371G>A c.(370-372)tGg>tAg p.W124* SKCM 23 100625025 100625025 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chrX:100625025C>T c.352G>A c.(352-354)Gaa>Aaa p.E118K SKCM 23 100625055 100625055 + Missense_Mutation SNP C C T TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chrX:100625055C>T c.322G>A c.(322-324)Gaa>Aaa p.E108K SKCM 23 100626636 100626636 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 g.chrX:100626636G>A c.294C>T c.(292-294)ttC>ttT p.F98F SKCM 23 100626668 100626668 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chrX:100626668C>T c.262G>A c.(262-264)Gaa>Aaa p.E88K SKCM 23 100630261 100630261 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chrX:100630261C>T c.12G>A c.(10-12)gtG>gtA p.V4V

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 100611762 100611762 single base substitution T G exon_variant ALL-US X 100611762 100611762 single base substitution T G intron_variant ALL-US X 100611762 100611762 single base substitution T G upstream_gene_variant BLCA-CN X 100604931 100604931 single base substitution C T downstream_gene_variant BLCA-CN X 100604931 100604931 single base substitution C T missense_variant R465H 1394G>A BLCA-CN X 100604931 100604931 single base substitution C T missense_variant R641H 1922G>A BLCA-US X 100603636 100603636 single base substitution G C downstream_gene_variant BLCA-US X 100608277 100608277 single base substitution C T downstream_gene_variant BLCA-US X 100608277 100608277 single base substitution C T exon_variant BLCA-US X 100608277 100608277 single base substitution C T missense_variant E429K 1285G>A BLCA-US X 100608277 100608277 single base substitution C T missense_variant E605K 1813G>A BLCA-US X 100617172 100617172 single base substitution C T downstream_gene_variant BLCA-US X 100617172 100617172 single base substitution C T missense_variant E193K 577G>A BLCA-US X 100617172 100617172 single base substitution C T upstream_gene_variant BLCA-US X 100617587 100617587 single base substitution T G exon_variant BLCA-US X 100617587 100617587 single base substitution T G missense_variant N161T 482A>C BLCA-US X 100617587 100617587 single base substitution T G upstream_gene_variant BRCA-EU X 100599881 100599881 single base substitution C T downstream_gene_variant BRCA-EU X 100601015 100601015 single base substitution C A downstream_gene_variant BRCA-EU X 100601366 100601366 single base substitution G A downstream_gene_variant BRCA-EU X 100604429 100604429 single base substitution A G downstream_gene_variant BRCA-EU X 100605697 100605697 single base substitution A T downstream_gene_variant BRCA-EU X 100605697 100605697 single base substitution A T intron_variant BRCA-EU X 100606572 100606572 single base substitution G A downstream_gene_variant BRCA-EU X 100606572 100606572 single base substitution G A intron_variant BRCA-EU X 100606640 100606640 single base substitution G T downstream_gene_variant BRCA-EU X 100606640 100606640 single base substitution G T intron_variant BRCA-EU X 100606654 100606654 single base substitution G A downstream_gene_variant BRCA-EU X 100606654 100606654 single base substitution G A intron_variant BRCA-EU X 100606854 100606854 deletion of <=200bp A - downstream_gene_variant BRCA-EU X 100606854 100606854 deletion of <=200bp A - intron_variant BRCA-EU X 100607551 100607551 single base substitution G A downstream_gene_variant BRCA-EU X 100607551 100607551 single base substitution G A intron_variant BRCA-EU X 100607842 100607842 single base substitution G T downstream_gene_variant BRCA-EU X 100607842 100607842 single base substitution G T intron_variant BRCA-EU X 100609340 100609340 single base substitution C T downstream_gene_variant BRCA-EU X 100609340 100609340 single base substitution C T intron_variant BRCA-EU X 100609340 100609340 single base substitution C T upstream_gene_variant BRCA-EU X 100610222 100610222 single base substitution G A downstream_gene_variant BRCA-EU X 100610222 100610222 single base substitution G A intron_variant BRCA-EU X 100610222 100610222 single base substitution G A upstream_gene_variant BRCA-EU X 100611531 100611531 single base substitution A C exon_variant BRCA-EU X 100611531 100611531 single base substitution A C intron_variant BRCA-EU X 100611531 100611531 single base substitution A C upstream_gene_variant BRCA-EU X 100613428 100613428 single base substitution G A downstream_gene_variant BRCA-EU X 100613428 100613428 single base substitution G A splice_region_variant BRCA-EU X 100613428 100613428 single base substitution G A upstream_gene_variant BRCA-EU X 100615786 100615786 single base substitution C A downstream_gene_variant BRCA-EU X 100615786 100615786 single base substitution C A intron_variant BRCA-EU X 100615786 100615786 single base substitution C A upstream_gene_variant BRCA-EU X 100616202 100616202 deletion of <=200bp A - downstream_gene_variant BRCA-EU X 100616202 100616202 deletion of <=200bp A - intron_variant BRCA-EU X 100616202 100616202 deletion of <=200bp A - upstream_gene_variant BRCA-EU X 100616470 100616470 single base substitution G C downstream_gene_variant BRCA-EU X 100616470 100616470 single base substitution G C intron_variant BRCA-EU X 100616470 100616470 single base substitution G C upstream_gene_variant BRCA-EU X 100616522 100616522 single base substitution G C downstream_gene_variant BRCA-EU X 100616522 100616522 single base substitution G C intron_variant BRCA-EU X 100616522 100616522 single base substitution G C upstream_gene_variant BRCA-EU X 100616806 100616806 single base substitution C G downstream_gene_variant BRCA-EU X 100616806 100616806 single base substitution C G intron_variant BRCA-EU X 100616806 100616806 single base substitution C G upstream_gene_variant BRCA-EU X 100618160 100618160 single base substitution G T intron_variant BRCA-EU X 100618160 100618160 single base substitution G T upstream_gene_variant BRCA-EU X 100618219 100618219 single base substitution C A intron_variant BRCA-EU X 100618219 100618219 single base substitution C A upstream_gene_variant BRCA-EU X 100618535 100618535 single base substitution C T intron_variant BRCA-EU X 100618535 100618535 single base substitution C T upstream_gene_variant BRCA-EU X 100618822 100618822 single base substitution G C intron_variant BRCA-EU X 100618822 100618822 single base substitution G C upstream_gene_variant BRCA-EU X 100619454 100619454 single base substitution C T intron_variant BRCA-EU X 100619454 100619454 single base substitution C T upstream_gene_variant BRCA-EU X 100620273 100620273 single base substitution G A intron_variant BRCA-EU X 100620273 100620273 single base substitution G A upstream_gene_variant BRCA-EU X 100621089 100621089 single base substitution G A intron_variant BRCA-EU X 100621089 100621089 single base substitution G A upstream_gene_variant BRCA-EU X 100621175 100621175 single base substitution G A intron_variant BRCA-EU X 100621175 100621175 single base substitution G A upstream_gene_variant BRCA-EU X 100621525 100621525 single base substitution A G intron_variant BRCA-EU X 100621525 100621525 single base substitution A G upstream_gene_variant BRCA-EU X 100621749 100621749 single base substitution G T intron_variant BRCA-EU X 100621749 100621749 single base substitution G T upstream_gene_variant BRCA-EU X 100621811 100621811 single base substitution C G intron_variant BRCA-EU X 100621811 100621811 single base substitution C G upstream_gene_variant BRCA-EU X 100621990 100621990 single base substitution G A intron_variant BRCA-EU X 100621990 100621990 single base substitution G A upstream_gene_variant BRCA-EU X 100623612 100623612 single base substitution G C intron_variant BRCA-EU X 100624092 100624092 single base substitution G C intron_variant BRCA-EU X 100624122 100624122 single base substitution G A intron_variant BRCA-EU X 100626070 100626070 single base substitution A G downstream_gene_variant BRCA-EU X 100626070 100626070 single base substitution A G intron_variant BRCA-EU X 100626576 100626576 single base substitution G T downstream_gene_variant BRCA-EU X 100626576 100626576 single base substitution G T intron_variant BRCA-EU X 100627344 100627344 single base substitution C G downstream_gene_variant BRCA-EU X 100627344 100627344 single base substitution C G intron_variant BRCA-EU X 100628361 100628361 single base substitution G A downstream_gene_variant BRCA-EU X 100628361 100628361 single base substitution G A intron_variant BRCA-EU X 100629139 100629139 single base substitution G A downstream_gene_variant BRCA-EU X 100629139 100629139 single base substitution G A intron_variant BRCA-EU X 100629798 100629798 single base substitution C T intron_variant BRCA-EU X 100630223 100630223 single base substitution T G exon_variant BRCA-EU X 100630223 100630223 single base substitution T G missense_variant K17T 50A>C BRCA-EU X 100630655 100630655 single base substitution A T intron_variant BRCA-EU X 100632680 100632680 insertion of <=200bp - CT intron_variant BRCA-EU X 100635311 100635311 single base substitution G C intron_variant BRCA-EU X 100635662 100635662 single base substitution A T intron_variant BRCA-EU X 100635788 100635788 single base substitution C G intron_variant BRCA-EU X 100636461 100636461 single base substitution G T intron_variant BRCA-EU X 100636645 100636645 single base substitution C G intron_variant BRCA-EU X 100637191 100637191 single base substitution C G intron_variant BRCA-EU X 100637196 100637196 single base substitution C G intron_variant BRCA-EU X 100637270 100637270 single base substitution G A intron_variant BRCA-EU X 100637850 100637850 single base substitution C A intron_variant BRCA-EU X 100638062 100638062 insertion of <=200bp - A intron_variant BRCA-EU X 100638322 100638322 single base substitution G A intron_variant BRCA-EU X 100638807 100638807 single base substitution C T intron_variant BRCA-EU X 100639439 100639439 single base substitution G C intron_variant BRCA-EU X 100639509 100639509 single base substitution C T intron_variant BRCA-EU X 100640735 100640735 single base substitution G A intron_variant BRCA-EU X 100642532 100642532 single base substitution G A upstream_gene_variant BRCA-EU X 100642983 100642983 single base substitution T G upstream_gene_variant BRCA-EU X 100644196 100644196 single base substitution A G upstream_gene_variant BRCA-EU X 100646016 100646016 single base substitution T C upstream_gene_variant BRCA-FR X 100603003 100603003 single base substitution C A downstream_gene_variant BRCA-FR X 100606654 100606654 single base substitution G A downstream_gene_variant BRCA-FR X 100606654 100606654 single base substitution G A intron_variant BRCA-FR X 100610458 100610458 single base substitution C T downstream_gene_variant BRCA-FR X 100610458 100610458 single base substitution C T intron_variant BRCA-FR X 100610458 100610458 single base substitution C T upstream_gene_variant BRCA-FR X 100616470 100616470 single base substitution G C downstream_gene_variant BRCA-FR X 100616470 100616470 single base substitution G C intron_variant BRCA-FR X 100616470 100616470 single base substitution G C upstream_gene_variant BRCA-FR X 100618163 100618163 single base substitution C T intron_variant BRCA-FR X 100618163 100618163 single base substitution C T upstream_gene_variant BRCA-FR X 100620273 100620273 single base substitution G A intron_variant BRCA-FR X 100620273 100620273 single base substitution G A upstream_gene_variant BRCA-FR X 100624122 100624122 single base substitution G A intron_variant BRCA-FR X 100625906 100625906 single base substitution G A downstream_gene_variant BRCA-FR X 100625906 100625906 single base substitution G A intron_variant BRCA-FR X 100626576 100626576 single base substitution G T downstream_gene_variant BRCA-FR X 100626576 100626576 single base substitution G T intron_variant BRCA-FR X 100630554 100630554 single base substitution G A intron_variant BRCA-FR X 100636645 100636645 single base substitution C G intron_variant BRCA-FR X 100637987 100637987 single base substitution C G intron_variant BRCA-FR X 100640735 100640735 single base substitution G A intron_variant BRCA-UK X 100605697 100605697 single base substitution A T downstream_gene_variant BRCA-UK X 100605697 100605697 single base substitution A T intron_variant BRCA-UK X 100617700 100617700 single base substitution G T exon_variant BRCA-UK X 100617700 100617700 single base substitution G T intron_variant BRCA-UK X 100617700 100617700 single base substitution G T upstream_gene_variant BRCA-UK X 100618475 100618475 single base substitution G T intron_variant BRCA-UK X 100618475 100618475 single base substitution G T upstream_gene_variant BRCA-UK X 100618822 100618822 single base substitution G C intron_variant BRCA-UK X 100618822 100618822 single base substitution G C upstream_gene_variant BRCA-UK X 100619292 100619292 single base substitution G A intron_variant BRCA-UK X 100619292 100619292 single base substitution G A upstream_gene_variant BRCA-UK X 100629122 100629122 single base substitution C G downstream_gene_variant BRCA-UK X 100629122 100629122 single base substitution C G intron_variant BRCA-UK X 100629601 100629601 single base substitution A C exon_variant BRCA-UK X 100629601 100629601 single base substitution A C missense_variant S55A 163T>G BRCA-UK X 100642873 100642873 single base substitution G C upstream_gene_variant BRCA-UK X 100643739 100643739 single base substitution G C upstream_gene_variant BRCA-US X 100603573 100603573 single base substitution G T downstream_gene_variant BRCA-US X 100603691 100603691 single base substitution G T downstream_gene_variant BRCA-US X 100609675 100609675 single base substitution C G downstream_gene_variant BRCA-US X 100609675 100609675 single base substitution C G missense_variant R349P 1046G>C BRCA-US X 100609675 100609675 single base substitution C G missense_variant R525P 1574G>C BRCA-US X 100609675 100609675 single base substitution C G upstream_gene_variant BRCA-US X 100613405 100613405 single base substitution C T downstream_gene_variant BRCA-US X 100613405 100613405 single base substitution C T missense_variant R332H 995G>A BRCA-US X 100613405 100613405 single base substitution C T upstream_gene_variant BRCA-US X 100614283 100614283 single base substitution C T downstream_gene_variant BRCA-US X 100614283 100614283 single base substitution C T missense_variant E298K 892G>A BRCA-US X 100614283 100614283 single base substitution C T upstream_gene_variant BRCA-US X 100615095 100615095 single base substitution C T downstream_gene_variant BRCA-US X 100615095 100615095 single base substitution C T missense_variant D274N 820G>A BRCA-US X 100615095 100615095 single base substitution C T upstream_gene_variant BRCA-US X 100615648 100615648 single base substitution C G downstream_gene_variant BRCA-US X 100615648 100615648 single base substitution C G missense_variant M228I 684G>C BRCA-US X 100615648 100615648 single base substitution C G upstream_gene_variant BRCA-US X 100617172 100617172 single base substitution C T downstream_gene_variant BRCA-US X 100617172 100617172 single base substitution C T missense_variant E193K 577G>A BRCA-US X 100617172 100617172 single base substitution C T upstream_gene_variant BRCA-US X 100617649 100617649 single base substitution C T exon_variant BRCA-US X 100617649 100617649 single base substitution C T synonymous_variant Q140Q 420G>A BRCA-US X 100617649 100617649 single base substitution C T upstream_gene_variant BRCA-US X 100629447 100629447 single base substitution C G exon_variant BRCA-US X 100629447 100629447 single base substitution C G intron_variant BRCA-US X 100629586 100629586 single base substitution T C exon_variant BRCA-US X 100629586 100629586 single base substitution T C missense_variant K60E 178A>G BTCA-JP X 100601735 100601735 deletion of <=200bp A - downstream_gene_variant BTCA-JP X 100601735 100601735 insertion of <=200bp - A downstream_gene_variant BTCA-JP X 100613629 100613629 single base substitution A C downstream_gene_variant BTCA-JP X 100613629 100613629 single base substitution A C missense_variant V317G 950T>G BTCA-JP X 100613629 100613629 single base substitution A C upstream_gene_variant BTCA-JP X 100614112 100614112 single base substitution C G downstream_gene_variant BTCA-JP X 100614112 100614112 single base substitution C G intron_variant BTCA-JP X 100614112 100614112 single base substitution C G upstream_gene_variant BTCA-JP X 100625009 100625009 single base substitution C T downstream_gene_variant BTCA-JP X 100625009 100625009 single base substitution C T missense_variant R123Q 368G>A BTCA-JP X 100630103 100630103 single base substitution A G intron_variant CESC-US X 100603704 100603704 single base substitution C T downstream_gene_variant CESC-US X 100604945 100604945 single base substitution C G downstream_gene_variant CESC-US X 100604945 100604945 single base substitution C G splice_acceptor_variant CESC-US X 100608249 100608249 single base substitution A T downstream_gene_variant CESC-US X 100608249 100608249 single base substitution A T exon_variant CESC-US X 100608249 100608249 single base substitution A T missense_variant L438Q 1313T>A CESC-US X 100608249 100608249 single base substitution A T missense_variant L614Q 1841T>A CESC-US X 100613379 100613379 single base substitution G C downstream_gene_variant CESC-US X 100613379 100613379 single base substitution G C missense_variant Q341E 1021C>G CESC-US X 100613379 100613379 single base substitution G C upstream_gene_variant CESC-US X 100613645 100613645 single base substitution C A downstream_gene_variant CESC-US X 100613645 100613645 single base substitution C A missense_variant A312S 934G>T CESC-US X 100613645 100613645 single base substitution C A upstream_gene_variant CLLE-ES X 100604613 100604613 deletion of <=200bp T - 3_prime_UTR_variant CLLE-ES X 100604613 100604613 deletion of <=200bp T - downstream_gene_variant CLLE-ES X 100604643 100604643 single base substitution G T 3_prime_UTR_variant CLLE-ES X 100604643 100604643 single base substitution G T downstream_gene_variant CLLE-ES X 100609349 100609349 single base substitution T C downstream_gene_variant CLLE-ES X 100609349 100609349 single base substitution T C intron_variant CLLE-ES X 100609349 100609349 single base substitution T C upstream_gene_variant CLLE-ES X 100610180 100610180 single base substitution G C downstream_gene_variant CLLE-ES X 100610180 100610180 single base substitution G C intron_variant CLLE-ES X 100610180 100610180 single base substitution G C upstream_gene_variant CLLE-ES X 100621678 100621678 single base substitution T C intron_variant CLLE-ES X 100621678 100621678 single base substitution T C upstream_gene_variant CLLE-ES X 100627441 100627441 single base substitution A C downstream_gene_variant CLLE-ES X 100627441 100627441 single base substitution A C intron_variant CLLE-ES X 100634178 100634178 single base substitution A G intron_variant CLLE-ES X 100634639 100634639 single base substitution G T intron_variant CLLE-ES X 100645440 100645440 single base substitution T G upstream_gene_variant CMDI-UK X 100608949 100608949 single base substitution G A downstream_gene_variant CMDI-UK X 100608949 100608949 single base substitution G A exon_variant CMDI-UK X 100608949 100608949 single base substitution G A synonymous_variant S377S 1131C>T CMDI-UK X 100608949 100608949 single base substitution G A synonymous_variant S553S 1659C>T COAD-US X 100601575 100601575 single base substitution C T downstream_gene_variant COAD-US X 100608272 100608272 single base substitution A C downstream_gene_variant COAD-US X 100608272 100608272 single base substitution A C exon_variant COAD-US X 100608272 100608272 single base substitution A C synonymous_variant T430T 1290T>G COAD-US X 100608272 100608272 single base substitution A C synonymous_variant T606T 1818T>G COAD-US X 100608283 100608283 single base substitution T C downstream_gene_variant COAD-US X 100608283 100608283 single base substitution T C exon_variant COAD-US X 100608283 100608283 single base substitution T C missense_variant N427D 1279A>G COAD-US X 100608283 100608283 single base substitution T C missense_variant N603D 1807A>G COAD-US X 100611047 100611047 single base substitution C T downstream_gene_variant COAD-US X 100611047 100611047 single base substitution C T exon_variant COAD-US X 100611047 100611047 single base substitution C T intron_variant COAD-US X 100611047 100611047 single base substitution C T missense_variant R520Q 1559G>A COAD-US X 100611047 100611047 single base substitution C T upstream_gene_variant COAD-US X 100611138 100611138 single base substitution G A downstream_gene_variant COAD-US X 100611138 100611138 single base substitution G A exon_variant COAD-US X 100611138 100611138 single base substitution G A intron_variant COAD-US X 100611138 100611138 single base substitution G A missense_variant R490C 1468C>T COAD-US X 100611138 100611138 single base substitution G A upstream_gene_variant COAD-US X 100611843 100611843 single base substitution G A exon_variant COAD-US X 100611843 100611843 single base substitution G A intron_variant COAD-US X 100611843 100611843 single base substitution G A synonymous_variant D426D 1278C>T COAD-US X 100611843 100611843 single base substitution G A upstream_gene_variant COAD-US X 100617180 100617180 single base substitution G T exon_variant COAD-US X 100617180 100617180 single base substitution G T missense_variant P190Q 569C>A COAD-US X 100617180 100617180 single base substitution G T upstream_gene_variant COAD-US X 100626666 100626666 single base substitution T G downstream_gene_variant COAD-US X 100626666 100626666 single base substitution T G missense_variant E88D 264A>C COCA-CN X 100603536 100603536 single base substitution C A downstream_gene_variant COCA-CN X 100608935 100608935 single base substitution T G downstream_gene_variant COCA-CN X 100608935 100608935 single base substitution T G exon_variant COCA-CN X 100608935 100608935 single base substitution T G missense_variant K382T 1145A>C COCA-CN X 100608935 100608935 single base substitution T G missense_variant K558T 1673A>C COCA-CN X 100610902 100610902 single base substitution C T downstream_gene_variant COCA-CN X 100610902 100610902 single base substitution C T exon_variant COCA-CN X 100610902 100610902 single base substitution C T intron_variant COCA-CN X 100610902 100610902 single base substitution C T upstream_gene_variant COCA-CN X 100611285 100611285 single base substitution T C downstream_gene_variant COCA-CN X 100611285 100611285 single base substitution T C intron_variant COCA-CN X 100611285 100611285 single base substitution T C upstream_gene_variant COCA-CN X 100611432 100611432 single base substitution G A downstream_gene_variant COCA-CN X 100611432 100611432 single base substitution G A intron_variant COCA-CN X 100611432 100611432 single base substitution G A upstream_gene_variant COCA-CN X 100611842 100611842 single base substitution C T exon_variant COCA-CN X 100611842 100611842 single base substitution C T intron_variant COCA-CN X 100611842 100611842 single base substitution C T missense_variant V427M 1279G>A COCA-CN X 100611842 100611842 single base substitution C T upstream_gene_variant COCA-CN X 100613645 100613645 single base substitution C T downstream_gene_variant COCA-CN X 100613645 100613645 single base substitution C T missense_variant A312T 934G>A COCA-CN X 100613645 100613645 single base substitution C T upstream_gene_variant COCA-CN X 100615269 100615269 single base substitution G T downstream_gene_variant COCA-CN X 100615269 100615269 single base substitution G T intron_variant COCA-CN X 100615269 100615269 single base substitution G T upstream_gene_variant COCA-CN X 100615557 100615557 single base substitution C A downstream_gene_variant COCA-CN X 100615557 100615557 single base substitution C A missense_variant G259W 775G>T COCA-CN X 100615557 100615557 single base substitution C A upstream_gene_variant COCA-CN X 100615571 100615571 single base substitution G A downstream_gene_variant COCA-CN X 100615571 100615571 single base substitution G A missense_variant A254V 761C>T COCA-CN X 100615571 100615571 single base substitution G A upstream_gene_variant COCA-CN X 100621969 100621969 single base substitution C T intron_variant COCA-CN X 100621969 100621969 single base substitution C T upstream_gene_variant COCA-CN X 100625118 100625118 single base substitution G T downstream_gene_variant COCA-CN X 100625118 100625118 single base substitution G T intron_variant COCA-CN X 100629458 100629458 single base substitution G T exon_variant COCA-CN X 100629458 100629458 single base substitution G T intron_variant COCA-CN X 100630052 100630052 single base substitution A C intron_variant COCA-CN X 100630070 100630070 single base substitution G T intron_variant COCA-CN X 100630185 100630185 single base substitution A G exon_variant COCA-CN X 100630185 100630185 single base substitution A G missense_variant F30L 88T>C COCA-CN X 100645467 100645467 single base substitution T C upstream_gene_variant COCA-CN X 100645865 100645865 single base substitution G A upstream_gene_variant COCA-CN X 100646157 100646157 single base substitution C T upstream_gene_variant ESCA-CN X 100615021 100615021 single base substitution T G downstream_gene_variant ESCA-CN X 100615021 100615021 single base substitution T G intron_variant ESCA-CN X 100615021 100615021 single base substitution T G upstream_gene_variant ESCA-CN X 100617372 100617372 single base substitution T C intron_variant ESCA-CN X 100617372 100617372 single base substitution T C upstream_gene_variant ESCA-CN X 100646065 100646065 single base substitution T G upstream_gene_variant GBM-US X 100611084 100611084 single base substitution C T downstream_gene_variant GBM-US X 100611084 100611084 single base substitution C T exon_variant GBM-US X 100611084 100611084 single base substitution C T intron_variant GBM-US X 100611084 100611084 single base substitution C T missense_variant A508T 1522G>A GBM-US X 100611084 100611084 single base substitution C T upstream_gene_variant GBM-US X 100611220 100611220 single base substitution G A downstream_gene_variant GBM-US X 100611220 100611220 single base substitution G A exon_variant GBM-US X 100611220 100611220 single base substitution G A intron_variant GBM-US X 100611220 100611220 single base substitution G A synonymous_variant G462G 1386C>T GBM-US X 100611220 100611220 single base substitution G A upstream_gene_variant KIRC-US X 100611135 100611135 single base substitution G A downstream_gene_variant KIRC-US X 100611135 100611135 single base substitution G A exon_variant KIRC-US X 100611135 100611135 single base substitution G A intron_variant KIRC-US X 100611135 100611135 single base substitution G A missense_variant H491Y 1471C>T KIRC-US X 100611135 100611135 single base substitution G A upstream_gene_variant KIRP-US X 100646010 100646010 single base substitution C T upstream_gene_variant LAML-KR X 100608191 100608191 single base substitution G A downstream_gene_variant LAML-KR X 100608191 100608191 single base substitution G A exon_variant LAML-KR X 100608191 100608191 single base substitution G A synonymous_variant C457C 1371C>T LAML-KR X 100608191 100608191 single base substitution G A synonymous_variant C633C 1899C>T LAML-KR X 100609547 100609547 single base substitution G A downstream_gene_variant LAML-KR X 100609547 100609547 single base substitution G A intron_variant LAML-KR X 100609547 100609547 single base substitution G A upstream_gene_variant LAML-KR X 100615025 100615025 single base substitution G T downstream_gene_variant LAML-KR X 100615025 100615025 single base substitution G T intron_variant LAML-KR X 100615025 100615025 single base substitution G T upstream_gene_variant LGG-US X 100613413 100613413 single base substitution C A downstream_gene_variant LGG-US X 100613413 100613413 single base substitution C A synonymous_variant G329G 987G>T LGG-US X 100613413 100613413 single base substitution C A upstream_gene_variant LGG-US X 100615678 100615678 single base substitution C T downstream_gene_variant LGG-US X 100615678 100615678 single base substitution C T synonymous_variant K218K 654G>A LGG-US X 100615678 100615678 single base substitution C T upstream_gene_variant LICA-CN X 100611255 100611255 single base substitution T C downstream_gene_variant LICA-CN X 100611255 100611255 single base substitution T C intron_variant LICA-CN X 100611255 100611255 single base substitution T C missense_variant N451D 1351A>G LICA-CN X 100611255 100611255 single base substitution T C splice_region_variant LICA-CN X 100611255 100611255 single base substitution T C upstream_gene_variant LICA-CN X 100611892 100611892 single base substitution G T exon_variant LICA-CN X 100611892 100611892 single base substitution G T intron_variant LICA-CN X 100611892 100611892 single base substitution G T missense_variant T410N 1229C>A LICA-CN X 100611892 100611892 single base substitution G T upstream_gene_variant LICA-FR X 100610573 100610573 insertion of <=200bp - T downstream_gene_variant LICA-FR X 100610573 100610573 insertion of <=200bp - T exon_variant LICA-FR X 100610573 100610573 insertion of <=200bp - T intron_variant LICA-FR X 100610573 100610573 insertion of <=200bp - T upstream_gene_variant LICA-FR X 100629549 100629549 deletion of <=200bp T - exon_variant LICA-FR X 100629549 100629549 deletion of <=200bp T - frameshift_variant N72 LICA-FR X 100629745 100629745 single base substitution G T intron_variant LICA-FR X 100639594 100639595 deletion of <=200bp AA - intron_variant LICA-FR X 100641535 100641535 single base substitution G A upstream_gene_variant LICA-FR X 100645860 100645860 single base substitution C T upstream_gene_variant LICA-FR X 100646036 100646036 single base substitution T C upstream_gene_variant LIHC-US X 100608970 100608970 single base substitution G C downstream_gene_variant LIHC-US X 100608970 100608970 single base substitution G C exon_variant LIHC-US X 100608970 100608970 single base substitution G C synonymous_variant V370V 1110C>G LIHC-US X 100608970 100608970 single base substitution G C synonymous_variant V546V 1638C>G LIHC-US X 100611053 100611053 single base substitution A G downstream_gene_variant LIHC-US X 100611053 100611053 single base substitution A G exon_variant LIHC-US X 100611053 100611053 single base substitution A G intron_variant LIHC-US X 100611053 100611053 single base substitution A G missense_variant L518P 1553T>C LIHC-US X 100611053 100611053 single base substitution A G upstream_gene_variant LINC-JP X 100617627 100617627 single base substitution T C exon_variant LINC-JP X 100617627 100617627 single base substitution T C missense_variant I148V 442A>G LINC-JP X 100617627 100617627 single base substitution T C upstream_gene_variant LINC-JP X 100624721 100624721 single base substitution T C downstream_gene_variant LINC-JP X 100624721 100624721 single base substitution T C intron_variant LINC-JP X 100625009 100625009 single base substitution C T downstream_gene_variant LINC-JP X 100625009 100625009 single base substitution C T missense_variant R123Q 368G>A LINC-JP X 100632516 100632516 single base substitution T C intron_variant LINC-JP X 100645781 100645781 single base substitution C T upstream_gene_variant LIRI-JP X 100599441 100599441 single base substitution A T downstream_gene_variant LIRI-JP X 100599696 100599696 single base substitution C T downstream_gene_variant LIRI-JP X 100603273 100603273 single base substitution C T downstream_gene_variant LIRI-JP X 100605519 100605519 single base substitution C T downstream_gene_variant LIRI-JP X 100605519 100605519 single base substitution C T intron_variant LIRI-JP X 100605892 100605892 single base substitution C T downstream_gene_variant LIRI-JP X 100605892 100605892 single base substitution C T intron_variant LIRI-JP X 100609189 100609189 single base substitution A G downstream_gene_variant LIRI-JP X 100609189 100609189 single base substitution A G exon_variant LIRI-JP X 100609189 100609189 single base substitution A G intron_variant LIRI-JP X 100609189 100609189 single base substitution A G upstream_gene_variant LIRI-JP X 100609800 100609800 single base substitution A G downstream_gene_variant LIRI-JP X 100609800 100609800 single base substitution A G intron_variant LIRI-JP X 100609800 100609800 single base substitution A G upstream_gene_variant LIRI-JP X 100609947 100609947 single base substitution C A downstream_gene_variant LIRI-JP X 100609947 100609947 single base substitution C A intron_variant LIRI-JP X 100609947 100609947 single base substitution C A upstream_gene_variant LIRI-JP X 100612574 100612574 single base substitution G A downstream_gene_variant LIRI-JP X 100612574 100612574 single base substitution G A intron_variant LIRI-JP X 100612574 100612574 single base substitution G A splice_region_variant LIRI-JP X 100612574 100612574 single base substitution G A upstream_gene_variant LIRI-JP X 100612624 100612624 single base substitution C T downstream_gene_variant LIRI-JP X 100612624 100612624 single base substitution C T intron_variant LIRI-JP X 100612624 100612624 single base substitution C T upstream_gene_variant LIRI-JP X 100613007 100613007 single base substitution C A downstream_gene_variant LIRI-JP X 100613007 100613007 single base substitution C A intron_variant LIRI-JP X 100613007 100613007 single base substitution C A upstream_gene_variant LIRI-JP X 100615284 100615284 single base substitution G T downstream_gene_variant LIRI-JP X 100615284 100615284 single base substitution G T intron_variant LIRI-JP X 100615284 100615284 single base substitution G T upstream_gene_variant LIRI-JP X 100618437 100618437 single base substitution G A intron_variant LIRI-JP X 100618437 100618437 single base substitution G A upstream_gene_variant LIRI-JP X 100619120 100619120 single base substitution G T intron_variant LIRI-JP X 100619120 100619120 single base substitution G T upstream_gene_variant LIRI-JP X 100621245 100621245 single base substitution G T intron_variant LIRI-JP X 100621245 100621245 single base substitution G T upstream_gene_variant LIRI-JP X 100621650 100621650 single base substitution T C intron_variant LIRI-JP X 100621650 100621650 single base substitution T C upstream_gene_variant LIRI-JP X 100625758 100625758 single base substitution C A downstream_gene_variant LIRI-JP X 100625758 100625758 single base substitution C A intron_variant LIRI-JP X 100626424 100626424 single base substitution G T downstream_gene_variant LIRI-JP X 100626424 100626424 single base substitution G T intron_variant LIRI-JP X 100630691 100630691 single base substitution A G intron_variant LIRI-JP X 100631662 100631662 single base substitution C A intron_variant LIRI-JP X 100632881 100632881 single base substitution C A 5_prime_UTR_variant LIRI-JP X 100632881 100632881 single base substitution C A intron_variant LIRI-JP X 100638078 100638078 single base substitution A G intron_variant LIRI-JP X 100639341 100639341 single base substitution T A intron_variant LIRI-JP X 100642606 100642606 single base substitution C T upstream_gene_variant LIRI-JP X 100642635 100642635 single base substitution C A upstream_gene_variant LIRI-JP X 100645956 100645956 single base substitution G A upstream_gene_variant LUSC-KR X 100600966 100600966 single base substitution C T downstream_gene_variant LUSC-KR X 100603477 100603477 single base substitution G A downstream_gene_variant LUSC-KR X 100604681 100604681 single base substitution C T 3_prime_UTR_variant LUSC-KR X 100604681 100604681 single base substitution C T downstream_gene_variant LUSC-KR X 100606936 100606936 single base substitution G A downstream_gene_variant LUSC-KR X 100606936 100606936 single base substitution G A intron_variant LUSC-KR X 100606937 100606937 single base substitution G T downstream_gene_variant LUSC-KR X 100606937 100606937 single base substitution G T intron_variant LUSC-KR X 100608191 100608191 single base substitution G A downstream_gene_variant LUSC-KR X 100608191 100608191 single base substitution G A exon_variant LUSC-KR X 100608191 100608191 single base substitution G A synonymous_variant C457C 1371C>T LUSC-KR X 100608191 100608191 single base substitution G A synonymous_variant C633C 1899C>T LUSC-KR X 100610070 100610070 single base substitution C A downstream_gene_variant LUSC-KR X 100610070 100610070 single base substitution C A intron_variant LUSC-KR X 100610070 100610070 single base substitution C A upstream_gene_variant LUSC-KR X 100611285 100611285 single base substitution T C downstream_gene_variant LUSC-KR X 100611285 100611285 single base substitution T C intron_variant LUSC-KR X 100611285 100611285 single base substitution T C upstream_gene_variant LUSC-KR X 100613891 100613891 single base substitution C T downstream_gene_variant LUSC-KR X 100613891 100613891 single base substitution C T intron_variant LUSC-KR X 100613891 100613891 single base substitution C T upstream_gene_variant LUSC-KR X 100615025 100615025 single base substitution G T downstream_gene_variant LUSC-KR X 100615025 100615025 single base substitution G T intron_variant LUSC-KR X 100615025 100615025 single base substitution G T upstream_gene_variant LUSC-KR X 100616172 100616172 single base substitution C G downstream_gene_variant LUSC-KR X 100616172 100616172 single base substitution C G intron_variant LUSC-KR X 100616172 100616172 single base substitution C G upstream_gene_variant LUSC-KR X 100622058 100622058 single base substitution C A intron_variant LUSC-KR X 100622058 100622058 single base substitution C A upstream_gene_variant LUSC-KR X 100622059 100622059 single base substitution C A intron_variant LUSC-KR X 100622059 100622059 single base substitution C A upstream_gene_variant LUSC-KR X 100624660 100624660 single base substitution A G downstream_gene_variant LUSC-KR X 100624660 100624660 single base substitution A G intron_variant LUSC-KR X 100626864 100626864 single base substitution C T downstream_gene_variant LUSC-KR X 100626864 100626864 single base substitution C T intron_variant LUSC-KR X 100627415 100627415 single base substitution G A downstream_gene_variant LUSC-KR X 100627415 100627415 single base substitution G A intron_variant LUSC-KR X 100637019 100637019 single base substitution C A intron_variant LUSC-KR X 100644109 100644109 single base substitution C T upstream_gene_variant LUSC-US X 100604918 100604918 single base substitution T G downstream_gene_variant LUSC-US X 100604918 100604918 single base substitution T G missense_variant K469N 1407A>C LUSC-US X 100604918 100604918 single base substitution T G missense_variant K645N 1935A>C LUSC-US X 100611048 100611048 single base substitution G T downstream_gene_variant LUSC-US X 100611048 100611048 single base substitution G T exon_variant LUSC-US X 100611048 100611048 single base substitution G T intron_variant LUSC-US X 100611048 100611048 single base substitution G T synonymous_variant R520R 1558C>A LUSC-US X 100611048 100611048 single base substitution G T upstream_gene_variant LUSC-US X 100611126 100611126 single base substitution G T downstream_gene_variant LUSC-US X 100611126 100611126 single base substitution G T exon_variant LUSC-US X 100611126 100611126 single base substitution G T intron_variant LUSC-US X 100611126 100611126 single base substitution G T missense_variant Q494K 1480C>A LUSC-US X 100611126 100611126 single base substitution G T upstream_gene_variant LUSC-US X 100611135 100611135 single base substitution G C downstream_gene_variant LUSC-US X 100611135 100611135 single base substitution G C exon_variant LUSC-US X 100611135 100611135 single base substitution G C intron_variant LUSC-US X 100611135 100611135 single base substitution G C missense_variant H491D 1471C>G LUSC-US X 100611135 100611135 single base substitution G C upstream_gene_variant LUSC-US X 100611771 100611771 single base substitution C A exon_variant LUSC-US X 100611771 100611771 single base substitution C A intron_variant LUSC-US X 100611771 100611771 single base substitution C A splice_donor_variant LUSC-US X 100611771 100611771 single base substitution C A upstream_gene_variant LUSC-US X 100613622 100613622 single base substitution C G downstream_gene_variant LUSC-US X 100613622 100613622 single base substitution C G synonymous_variant V319V 957G>C LUSC-US X 100613622 100613622 single base substitution C G upstream_gene_variant LUSC-US X 100615711 100615711 single base substitution T C downstream_gene_variant LUSC-US X 100615711 100615711 single base substitution T C synonymous_variant A207A 621A>G LUSC-US X 100615711 100615711 single base substitution T C upstream_gene_variant LUSC-US X 100617573 100617573 single base substitution G T exon_variant LUSC-US X 100617573 100617573 single base substitution G T missense_variant Q166K 496C>A LUSC-US X 100617573 100617573 single base substitution G T upstream_gene_variant LUSC-US X 100630170 100630170 single base substitution G T exon_variant LUSC-US X 100630170 100630170 single base substitution G T missense_variant H35N 103C>A LUSC-US X 100630231 100630231 single base substitution G T exon_variant LUSC-US X 100630231 100630231 single base substitution G T synonymous_variant S14S 42C>A LUSC-US X 100630267 100630267 deletion of <=200bp G - exon_variant LUSC-US X 100630267 100630267 deletion of <=200bp G - frameshift_variant A2 MALY-DE X 100602133 100602133 single base substitution A T downstream_gene_variant MALY-DE X 100603194 100603194 single base substitution C T downstream_gene_variant MALY-DE X 100605416 100605416 single base substitution A C downstream_gene_variant MALY-DE X 100605416 100605416 single base substitution A C intron_variant MALY-DE X 100608873 100608873 single base substitution C G downstream_gene_variant MALY-DE X 100608873 100608873 single base substitution C G exon_variant MALY-DE X 100608873 100608873 single base substitution C G missense_variant D403H 1207G>C MALY-DE X 100608873 100608873 single base substitution C G missense_variant D579H 1735G>C MALY-DE X 100611766 100611766 single base substitution A C exon_variant MALY-DE X 100611766 100611766 single base substitution A C intron_variant MALY-DE X 100611766 100611766 single base substitution A C splice_region_variant MALY-DE X 100611766 100611766 single base substitution A C upstream_gene_variant MALY-DE X 100611945 100611945 single base substitution T C intron_variant MALY-DE X 100611945 100611945 single base substitution T C splice_acceptor_variant MALY-DE X 100611945 100611945 single base substitution T C upstream_gene_variant MALY-DE X 100613319 100613319 single base substitution A T downstream_gene_variant MALY-DE X 100613319 100613319 single base substitution A T exon_variant MALY-DE X 100613319 100613319 single base substitution A T intron_variant MALY-DE X 100613319 100613319 single base substitution A T missense_variant Y361N 1081T>A MALY-DE X 100613319 100613319 single base substitution A T upstream_gene_variant MALY-DE X 100613656 100613656 single base substitution T A downstream_gene_variant MALY-DE X 100613656 100613656 single base substitution T A missense_variant D308V 923A>T MALY-DE X 100613656 100613656 single base substitution T A upstream_gene_variant MALY-DE X 100613666 100613666 single base substitution T A downstream_gene_variant MALY-DE X 100613666 100613666 single base substitution T A missense_variant I305F 913A>T MALY-DE X 100613666 100613666 single base substitution T A upstream_gene_variant MALY-DE X 100615025 100615025 single base substitution G T downstream_gene_variant MALY-DE X 100615025 100615025 single base substitution G T intron_variant MALY-DE X 100615025 100615025 single base substitution G T upstream_gene_variant MALY-DE X 100615607 100615607 single base substitution A T downstream_gene_variant MALY-DE X 100615607 100615607 single base substitution A T missense_variant F242Y 725T>A MALY-DE X 100615607 100615607 single base substitution A T upstream_gene_variant MALY-DE X 100615611 100615611 single base substitution A C downstream_gene_variant MALY-DE X 100615611 100615611 single base substitution A C missense_variant Y241D 721T>G MALY-DE X 100615611 100615611 single base substitution A C upstream_gene_variant MALY-DE X 100616592 100616592 single base substitution A T downstream_gene_variant MALY-DE X 100616592 100616592 single base substitution A T intron_variant MALY-DE X 100616592 100616592 single base substitution A T upstream_gene_variant MALY-DE X 100618013 100618013 single base substitution A G intron_variant MALY-DE X 100618013 100618013 single base substitution A G upstream_gene_variant MALY-DE X 100629213 100629213 single base substitution T A downstream_gene_variant MALY-DE X 100629213 100629213 single base substitution T A intron_variant MALY-DE X 100634145 100634145 insertion of <=200bp - A intron_variant MALY-DE X 100637300 100637300 insertion of <=200bp - TTTA intron_variant MALY-DE X 100640834 100640834 single base substitution C A intron_variant MALY-DE X 100640949 100640949 single base substitution G C intron_variant MALY-DE X 100641046 100641046 single base substitution C A intron_variant MALY-DE X 100641198 100641198 single base substitution C A upstream_gene_variant MELA-AU X 100599839 100599839 single base substitution G A downstream_gene_variant MELA-AU X 100599947 100599947 single base substitution G A downstream_gene_variant MELA-AU X 100602768 100602768 single base substitution C T downstream_gene_variant MELA-AU X 100603743 100603743 single base substitution G A downstream_gene_variant MELA-AU X 100604324 100604324 single base substitution C T downstream_gene_variant MELA-AU X 100605027 100605027 single base substitution T A downstream_gene_variant MELA-AU X 100605027 100605027 single base substitution T A intron_variant MELA-AU X 100605346 100605346 single base substitution C T downstream_gene_variant MELA-AU X 100605346 100605346 single base substitution C T intron_variant MELA-AU X 100605660 100605660 single base substitution C T downstream_gene_variant MELA-AU X 100605660 100605660 single base substitution C T intron_variant MELA-AU X 100605990 100605990 single base substitution G A downstream_gene_variant MELA-AU X 100605990 100605990 single base substitution G A intron_variant MELA-AU X 100606833 100606833 single base substitution C T downstream_gene_variant MELA-AU X 100606833 100606833 single base substitution C T intron_variant MELA-AU X 100607288 100607288 single base substitution T G downstream_gene_variant MELA-AU X 100607288 100607288 single base substitution T G intron_variant MELA-AU X 100607528 100607528 single base substitution G A downstream_gene_variant MELA-AU X 100607528 100607528 single base substitution G A intron_variant MELA-AU X 100608289 100608289 single base substitution A G downstream_gene_variant MELA-AU X 100608289 100608289 single base substitution A G exon_variant MELA-AU X 100608289 100608289 single base substitution A G missense_variant F425L 1273T>C MELA-AU X 100608289 100608289 single base substitution A G missense_variant F601L 1801T>C MELA-AU X 100608824 100608824 single base substitution G A downstream_gene_variant MELA-AU X 100608824 100608824 single base substitution G A intron_variant MELA-AU X 100609267 100609267 single base substitution C T downstream_gene_variant MELA-AU X 100609267 100609267 single base substitution C T intron_variant MELA-AU X 100609267 100609267 single base substitution C T upstream_gene_variant MELA-AU X 100609363 100609363 single base substitution G A downstream_gene_variant MELA-AU X 100609363 100609363 single base substitution G A intron_variant MELA-AU X 100609363 100609363 single base substitution G A upstream_gene_variant MELA-AU X 100609506 100609506 single base substitution C T downstream_gene_variant MELA-AU X 100609506 100609506 single base substitution C T intron_variant MELA-AU X 100609506 100609506 single base substitution C T upstream_gene_variant MELA-AU X 100609517 100609517 single base substitution G A downstream_gene_variant MELA-AU X 100609517 100609517 single base substitution G A intron_variant MELA-AU X 100609517 100609517 single base substitution G A upstream_gene_variant MELA-AU X 100609817 100609817 single base substitution G A downstream_gene_variant MELA-AU X 100609817 100609817 single base substitution G A intron_variant MELA-AU X 100609817 100609817 single base substitution G A upstream_gene_variant MELA-AU X 100609913 100609913 single base substitution A G downstream_gene_variant MELA-AU X 100609913 100609913 single base substitution A G intron_variant MELA-AU X 100609913 100609913 single base substitution A G upstream_gene_variant MELA-AU X 100610160 100610160 single base substitution G A downstream_gene_variant MELA-AU X 100610160 100610160 single base substitution G A intron_variant MELA-AU X 100610160 100610160 single base substitution G A upstream_gene_variant MELA-AU X 100610192 100610192 single base substitution G A downstream_gene_variant MELA-AU X 100610192 100610192 single base substitution G A intron_variant MELA-AU X 100610192 100610192 single base substitution G A upstream_gene_variant MELA-AU X 100610469 100610469 single base substitution G A downstream_gene_variant MELA-AU X 100610469 100610469 single base substitution G A intron_variant MELA-AU X 100610469 100610469 single base substitution G A upstream_gene_variant MELA-AU X 100610752 100610752 single base substitution C T downstream_gene_variant MELA-AU X 100610752 100610752 single base substitution C T exon_variant MELA-AU X 100610752 100610752 single base substitution C T intron_variant MELA-AU X 100610752 100610752 single base substitution C T upstream_gene_variant MELA-AU X 100611055 100611055 single base substitution G A downstream_gene_variant MELA-AU X 100611055 100611055 single base substitution G A exon_variant MELA-AU X 100611055 100611055 single base substitution G A intron_variant MELA-AU X 100611055 100611055 single base substitution G A synonymous_variant F517F 1551C>T MELA-AU X 100611055 100611055 single base substitution G A upstream_gene_variant MELA-AU X 100611248 100611248 single base substitution G A downstream_gene_variant MELA-AU X 100611248 100611248 single base substitution G A exon_variant MELA-AU X 100611248 100611248 single base substitution G A intron_variant MELA-AU X 100611248 100611248 single base substitution G A missense_variant S453F 1358C>T MELA-AU X 100611248 100611248 single base substitution G A upstream_gene_variant MELA-AU X 100611269 100611269 single base substitution C T downstream_gene_variant MELA-AU X 100611269 100611269 single base substitution C T intron_variant MELA-AU X 100611269 100611269 single base substitution C T upstream_gene_variant MELA-AU X 100611437 100611437 single base substitution G A downstream_gene_variant MELA-AU X 100611437 100611437 single base substitution G A intron_variant MELA-AU X 100611437 100611437 single base substitution G A upstream_gene_variant MELA-AU X 100611845 100611845 single base substitution C T exon_variant MELA-AU X 100611845 100611845 single base substitution C T intron_variant MELA-AU X 100611845 100611845 single base substitution C T missense_variant D426N 1276G>A MELA-AU X 100611845 100611845 single base substitution C T upstream_gene_variant MELA-AU X 100611921 100611921 single base substitution C T exon_variant MELA-AU X 100611921 100611921 single base substitution C T intron_variant MELA-AU X 100611921 100611921 single base substitution C T synonymous_variant K400K 1200G>A MELA-AU X 100611921 100611921 single base substitution C T upstream_gene_variant MELA-AU X 100612047 100612047 single base substitution G A intron_variant MELA-AU X 100612047 100612047 single base substitution G A upstream_gene_variant MELA-AU X 100612183 100612183 single base substitution C T downstream_gene_variant MELA-AU X 100612183 100612183 single base substitution C T intron_variant MELA-AU X 100612183 100612183 single base substitution C T upstream_gene_variant MELA-AU X 100612387 100612387 single base substitution G A downstream_gene_variant MELA-AU X 100612387 100612387 single base substitution G A intron_variant MELA-AU X 100612387 100612387 single base substitution G A upstream_gene_variant MELA-AU X 100612893 100612893 single base substitution G A downstream_gene_variant MELA-AU X 100612893 100612893 single base substitution G A intron_variant MELA-AU X 100612893 100612893 single base substitution G A upstream_gene_variant MELA-AU X 100613152 100613152 single base substitution T C downstream_gene_variant MELA-AU X 100613152 100613152 single base substitution T C intron_variant MELA-AU X 100613152 100613152 single base substitution T C upstream_gene_variant MELA-AU X 100613473 100613473 single base substitution G A downstream_gene_variant MELA-AU X 100613473 100613473 single base substitution G A intron_variant MELA-AU X 100613473 100613473 single base substitution G A upstream_gene_variant MELA-AU X 100613683 100613683 single base substitution C T downstream_gene_variant MELA-AU X 100613683 100613683 single base substitution C T missense_variant G299E 896G>A MELA-AU X 100613683 100613683 single base substitution C T upstream_gene_variant MELA-AU X 100613695 100613695 single base substitution G A downstream_gene_variant MELA-AU X 100613695 100613695 single base substitution G A intron_variant MELA-AU X 100613695 100613695 single base substitution G A upstream_gene_variant MELA-AU X 100613848 100613848 single base substitution G A downstream_gene_variant MELA-AU X 100613848 100613848 single base substitution G A intron_variant MELA-AU X 100613848 100613848 single base substitution G A upstream_gene_variant MELA-AU X 100614380 100614380 single base substitution G A downstream_gene_variant MELA-AU X 100614380 100614380 single base substitution G A intron_variant MELA-AU X 100614380 100614380 single base substitution G A upstream_gene_variant MELA-AU X 100614567 100614567 single base substitution G A downstream_gene_variant MELA-AU X 100614567 100614567 single base substitution G A intron_variant MELA-AU X 100614567 100614567 single base substitution G A upstream_gene_variant MELA-AU X 100614851 100614851 single base substitution G A downstream_gene_variant MELA-AU X 100614851 100614851 single base substitution G A intron_variant MELA-AU X 100614851 100614851 single base substitution G A upstream_gene_variant MELA-AU X 100615422 100615422 single base substitution G A downstream_gene_variant MELA-AU X 100615422 100615422 single base substitution G A intron_variant MELA-AU X 100615422 100615422 single base substitution G A upstream_gene_variant MELA-AU X 100615481 100615481 single base substitution G A downstream_gene_variant MELA-AU X 100615481 100615481 single base substitution G A intron_variant MELA-AU X 100615481 100615481 single base substitution G A upstream_gene_variant MELA-AU X 100616663 100616663 single base substitution G A downstream_gene_variant MELA-AU X 100616663 100616663 single base substitution G A intron_variant MELA-AU X 100616663 100616663 single base substitution G A upstream_gene_variant MELA-AU X 100616766 100616766 single base substitution C T downstream_gene_variant MELA-AU X 100616766 100616766 single base substitution C T intron_variant MELA-AU X 100616766 100616766 single base substitution C T upstream_gene_variant MELA-AU X 100617014 100617014 single base substitution C T downstream_gene_variant MELA-AU X 100617014 100617014 single base substitution C T intron_variant MELA-AU X 100617014 100617014 single base substitution C T upstream_gene_variant MELA-AU X 100618222 100618222 single base substitution C T intron_variant MELA-AU X 100618222 100618222 single base substitution C T upstream_gene_variant MELA-AU X 100618799 100618799 single base substitution G A intron_variant MELA-AU X 100618799 100618799 single base substitution G A upstream_gene_variant MELA-AU X 100619744 100619744 single base substitution T C intron_variant MELA-AU X 100619744 100619744 single base substitution T C upstream_gene_variant MELA-AU X 100619940 100619941 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 100619940 100619941 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU X 100621730 100621730 single base substitution G A intron_variant MELA-AU X 100621730 100621730 single base substitution G A upstream_gene_variant MELA-AU X 100622182 100622182 single base substitution A G intron_variant MELA-AU X 100622182 100622182 single base substitution A G upstream_gene_variant MELA-AU X 100622532 100622532 single base substitution G T intron_variant MELA-AU X 100622532 100622532 single base substitution G T upstream_gene_variant MELA-AU X 100622641 100622641 single base substitution T C intron_variant MELA-AU X 100622641 100622641 single base substitution T C upstream_gene_variant MELA-AU X 100623030 100623030 single base substitution G A intron_variant MELA-AU X 100623377 100623377 single base substitution G A intron_variant MELA-AU X 100623468 100623468 single base substitution C T intron_variant MELA-AU X 100624200 100624200 single base substitution G T intron_variant MELA-AU X 100624364 100624364 single base substitution C T downstream_gene_variant MELA-AU X 100624364 100624364 single base substitution C T intron_variant MELA-AU X 100624872 100624872 single base substitution C T downstream_gene_variant MELA-AU X 100624872 100624872 single base substitution C T intron_variant MELA-AU X 100625102 100625102 single base substitution G A downstream_gene_variant MELA-AU X 100625102 100625102 single base substitution G A intron_variant MELA-AU X 100625145 100625145 single base substitution G A downstream_gene_variant MELA-AU X 100625145 100625145 single base substitution G A intron_variant MELA-AU X 100625771 100625771 single base substitution C T downstream_gene_variant MELA-AU X 100625771 100625771 single base substitution C T intron_variant MELA-AU X 100625986 100625986 single base substitution A T downstream_gene_variant MELA-AU X 100625986 100625986 single base substitution A T intron_variant MELA-AU X 100626547 100626547 single base substitution T G downstream_gene_variant MELA-AU X 100626547 100626547 single base substitution T G intron_variant MELA-AU X 100626566 100626566 single base substitution C T downstream_gene_variant MELA-AU X 100626566 100626566 single base substitution C T intron_variant MELA-AU X 100626593 100626593 single base substitution C T downstream_gene_variant MELA-AU X 100626593 100626593 single base substitution C T intron_variant MELA-AU X 100626779 100626779 single base substitution C T downstream_gene_variant MELA-AU X 100626779 100626779 single base substitution C T intron_variant MELA-AU X 100626871 100626871 single base substitution C T downstream_gene_variant MELA-AU X 100626871 100626871 single base substitution C T intron_variant MELA-AU X 100627459 100627459 single base substitution G A downstream_gene_variant MELA-AU X 100627459 100627459 single base substitution G A intron_variant MELA-AU X 100627729 100627729 single base substitution C T downstream_gene_variant MELA-AU X 100627729 100627729 single base substitution C T intron_variant MELA-AU X 100628049 100628049 single base substitution G A downstream_gene_variant MELA-AU X 100628049 100628049 single base substitution G A intron_variant MELA-AU X 100628071 100628071 single base substitution G A downstream_gene_variant MELA-AU X 100628071 100628071 single base substitution G A intron_variant MELA-AU X 100628284 100628284 single base substitution A T downstream_gene_variant MELA-AU X 100628284 100628284 single base substitution A T intron_variant MELA-AU X 100628639 100628639 single base substitution G A downstream_gene_variant MELA-AU X 100628639 100628639 single base substitution G A intron_variant MELA-AU X 100628744 100628744 single base substitution G A downstream_gene_variant MELA-AU X 100628744 100628744 single base substitution G A intron_variant MELA-AU X 100629257 100629257 single base substitution C T downstream_gene_variant MELA-AU X 100629257 100629257 single base substitution C T intron_variant MELA-AU X 100629323 100629323 single base substitution C T exon_variant MELA-AU X 100629323 100629323 single base substitution C T intron_variant MELA-AU X 100629703 100629703 single base substitution C T intron_variant MELA-AU X 100629805 100629805 single base substitution C T intron_variant MELA-AU X 100630211 100630211 single base substitution G A exon_variant MELA-AU X 100630211 100630211 single base substitution G A missense_variant S21L 62C>T MELA-AU X 100630427 100630427 single base substitution C T intron_variant MELA-AU X 100630535 100630535 single base substitution G A intron_variant MELA-AU X 100630739 100630739 single base substitution G A intron_variant MELA-AU X 100630957 100630957 single base substitution G A intron_variant MELA-AU X 100631620 100631620 single base substitution A C intron_variant MELA-AU X 100631661 100631661 single base substitution A G intron_variant MELA-AU X 100631782 100631782 single base substitution C T intron_variant MELA-AU X 100632295 100632295 single base substitution A G intron_variant MELA-AU X 100632564 100632564 single base substitution C T intron_variant MELA-AU X 100632625 100632625 single base substitution C T intron_variant MELA-AU X 100632779 100632779 single base substitution G A intron_variant MELA-AU X 100632834 100632834 single base substitution G A intron_variant MELA-AU X 100632921 100632921 single base substitution C T 5_prime_UTR_variant MELA-AU X 100632921 100632921 single base substitution C T intron_variant MELA-AU X 100633135 100633135 single base substitution G A intron_variant MELA-AU X 100633330 100633330 single base substitution C T intron_variant MELA-AU X 100633488 100633488 single base substitution G A intron_variant MELA-AU X 100633688 100633688 single base substitution C T intron_variant MELA-AU X 100634045 100634045 single base substitution C T intron_variant MELA-AU X 100634388 100634388 single base substitution C T intron_variant MELA-AU X 100634399 100634399 single base substitution G A intron_variant MELA-AU X 100634466 100634466 single base substitution C T intron_variant MELA-AU X 100635074 100635074 single base substitution G A intron_variant MELA-AU X 100635279 100635279 single base substitution G A intron_variant MELA-AU X 100635484 100635484 single base substitution C T intron_variant MELA-AU X 100635822 100635822 single base substitution G A intron_variant MELA-AU X 100636160 100636160 single base substitution G A intron_variant MELA-AU X 100636379 100636379 single base substitution G A intron_variant MELA-AU X 100636480 100636480 single base substitution A C intron_variant MELA-AU X 100636604 100636604 single base substitution C T intron_variant MELA-AU X 100636613 100636613 single base substitution G A intron_variant MELA-AU X 100636957 100636957 single base substitution T C intron_variant MELA-AU X 100637053 100637053 single base substitution C T intron_variant MELA-AU X 100637057 100637057 single base substitution C T intron_variant MELA-AU X 100637186 100637187 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 100637856 100637856 single base substitution C T intron_variant MELA-AU X 100638111 100638111 single base substitution C T intron_variant MELA-AU X 100638138 100638138 single base substitution T C intron_variant MELA-AU X 100638243 100638243 single base substitution C T intron_variant MELA-AU X 100638937 100638938 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 100639127 100639127 single base substitution C T intron_variant MELA-AU X 100639186 100639187 multiple base substitution (>=2bp and <=200bp) GA AC intron_variant MELA-AU X 100640565 100640565 single base substitution C T intron_variant MELA-AU X 100640572 100640572 single base substitution C T intron_variant MELA-AU X 100640828 100640828 single base substitution C T intron_variant MELA-AU X 100641462 100641462 single base substitution G A upstream_gene_variant MELA-AU X 100641791 100641791 single base substitution G A upstream_gene_variant MELA-AU X 100642005 100642005 single base substitution G A upstream_gene_variant MELA-AU X 100642065 100642065 single base substitution C T upstream_gene_variant MELA-AU X 100642146 100642146 single base substitution G A upstream_gene_variant MELA-AU X 100642668 100642668 single base substitution A G upstream_gene_variant MELA-AU X 100642858 100642858 single base substitution G A upstream_gene_variant MELA-AU X 100642990 100642990 single base substitution G A upstream_gene_variant MELA-AU X 100644002 100644002 single base substitution C T upstream_gene_variant MELA-AU X 100644367 100644367 single base substitution C T upstream_gene_variant MELA-AU X 100644764 100644765 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU X 100644783 100644783 single base substitution T G upstream_gene_variant MELA-AU X 100644833 100644833 single base substitution C T upstream_gene_variant MELA-AU X 100646092 100646092 single base substitution C T upstream_gene_variant MELA-AU X 100646117 100646117 single base substitution C A upstream_gene_variant ORCA-IN X 100605076 100605076 single base substitution G A downstream_gene_variant ORCA-IN X 100605076 100605076 single base substitution G A intron_variant ORCA-IN X 100611677 100611677 single base substitution C G exon_variant ORCA-IN X 100611677 100611677 single base substitution C G intron_variant ORCA-IN X 100611677 100611677 single base substitution C G upstream_gene_variant ORCA-IN X 100621191 100621191 single base substitution C T intron_variant ORCA-IN X 100621191 100621191 single base substitution C T upstream_gene_variant ORCA-IN X 100637830 100637830 single base substitution A C intron_variant OV-AU X 100604531 100604531 single base substitution A C 3_prime_UTR_variant OV-AU X 100604531 100604531 single base substitution A C downstream_gene_variant OV-AU X 100606361 100606361 single base substitution T C downstream_gene_variant OV-AU X 100606361 100606361 single base substitution T C intron_variant OV-AU X 100607427 100607427 single base substitution A T downstream_gene_variant OV-AU X 100607427 100607427 single base substitution A T intron_variant OV-AU X 100608113 100608113 single base substitution C A downstream_gene_variant OV-AU X 100608113 100608113 single base substitution C A exon_variant OV-AU X 100608113 100608113 single base substitution C A intron_variant OV-AU X 100608520 100608520 single base substitution G T downstream_gene_variant OV-AU X 100608520 100608520 single base substitution G T intron_variant OV-AU X 100609713 100609713 single base substitution C T downstream_gene_variant OV-AU X 100609713 100609713 single base substitution C T intron_variant OV-AU X 100609713 100609713 single base substitution C T upstream_gene_variant OV-AU X 100615796 100615796 single base substitution T A downstream_gene_variant OV-AU X 100615796 100615796 single base substitution T A intron_variant OV-AU X 100615796 100615796 single base substitution T A upstream_gene_variant OV-AU X 100616813 100616813 single base substitution G T downstream_gene_variant OV-AU X 100616813 100616813 single base substitution G T intron_variant OV-AU X 100616813 100616813 single base substitution G T upstream_gene_variant OV-AU X 100619965 100619965 single base substitution T C intron_variant OV-AU X 100619965 100619965 single base substitution T C upstream_gene_variant OV-AU X 100622085 100622085 single base substitution A G intron_variant OV-AU X 100622085 100622085 single base substitution A G upstream_gene_variant OV-AU X 100622114 100622114 single base substitution C G intron_variant OV-AU X 100622114 100622114 single base substitution C G upstream_gene_variant OV-AU X 100624634 100624634 single base substitution A G downstream_gene_variant OV-AU X 100624634 100624634 single base substitution A G intron_variant OV-AU X 100628949 100628949 single base substitution C A downstream_gene_variant OV-AU X 100628949 100628949 single base substitution C A intron_variant OV-AU X 100630965 100630965 single base substitution T G intron_variant OV-AU X 100631831 100631831 single base substitution C A intron_variant OV-AU X 100640940 100640940 single base substitution C G intron_variant OV-AU X 100641075 100641075 single base substitution C A 5_prime_UTR_variant OV-AU X 100641075 100641075 single base substitution C A exon_variant OV-AU X 100641192 100641192 single base substitution C T upstream_gene_variant OV-AU X 100642152 100642152 single base substitution T A upstream_gene_variant OV-AU X 100642524 100642524 single base substitution G A upstream_gene_variant OV-AU X 100646018 100646018 single base substitution G A upstream_gene_variant OV-US X 100608315 100608315 single base substitution G A downstream_gene_variant OV-US X 100608315 100608315 single base substitution G A exon_variant OV-US X 100608315 100608315 single base substitution G A missense_variant S416F 1247C>T OV-US X 100608315 100608315 single base substitution G A missense_variant S592F 1775C>T PACA-AU X 100600845 100600845 single base substitution G A downstream_gene_variant PACA-AU X 100601953 100601953 single base substitution G T downstream_gene_variant PACA-AU X 100602461 100602461 single base substitution A C downstream_gene_variant PACA-AU X 100604365 100604365 single base substitution A G downstream_gene_variant PACA-AU X 100605011 100605011 single base substitution G T downstream_gene_variant PACA-AU X 100605011 100605011 single base substitution G T intron_variant PACA-AU X 100607243 100607243 single base substitution A G downstream_gene_variant PACA-AU X 100607243 100607243 single base substitution A G intron_variant PACA-AU X 100610964 100610964 single base substitution C G downstream_gene_variant PACA-AU X 100610964 100610964 single base substitution C G exon_variant PACA-AU X 100610964 100610964 single base substitution C G intron_variant PACA-AU X 100610964 100610964 single base substitution C G upstream_gene_variant PACA-AU X 100611843 100611843 single base substitution G A exon_variant PACA-AU X 100611843 100611843 single base substitution G A intron_variant PACA-AU X 100611843 100611843 single base substitution G A synonymous_variant D426D 1278C>T PACA-AU X 100611843 100611843 single base substitution G A upstream_gene_variant PACA-AU X 100615027 100615027 single base substitution G T downstream_gene_variant PACA-AU X 100615027 100615027 single base substitution G T intron_variant PACA-AU X 100615027 100615027 single base substitution G T upstream_gene_variant PACA-AU X 100622626 100622637 deletion of <=200bp AAATAAATAAAT - intron_variant PACA-AU X 100622626 100622637 deletion of <=200bp AAATAAATAAAT - upstream_gene_variant PACA-AU X 100628049 100628049 single base substitution G T downstream_gene_variant PACA-AU X 100628049 100628049 single base substitution G T intron_variant PACA-AU X 100630841 100630841 single base substitution C T intron_variant PACA-AU X 100634477 100634477 single base substitution C G intron_variant PACA-AU X 100634597 100634597 single base substitution C T intron_variant PACA-CA X 100599570 100599570 single base substitution C T downstream_gene_variant PACA-CA X 100602005 100602005 single base substitution A T downstream_gene_variant PACA-CA X 100603450 100603450 single base substitution C T downstream_gene_variant PACA-CA X 100605681 100605681 single base substitution C T downstream_gene_variant PACA-CA X 100605681 100605681 single base substitution C T intron_variant PACA-CA X 100606854 100606854 single base substitution A T downstream_gene_variant PACA-CA X 100606854 100606854 single base substitution A T intron_variant PACA-CA X 100611247 100611247 single base substitution G A downstream_gene_variant PACA-CA X 100611247 100611247 single base substitution G A exon_variant PACA-CA X 100611247 100611247 single base substitution G A intron_variant PACA-CA X 100611247 100611247 single base substitution G A synonymous_variant S453S 1359C>T PACA-CA X 100611247 100611247 single base substitution G A upstream_gene_variant PACA-CA X 100613682 100613682 single base substitution C T downstream_gene_variant PACA-CA X 100613682 100613682 single base substitution C T splice_region_variant PACA-CA X 100613682 100613682 single base substitution C T upstream_gene_variant PACA-CA X 100614072 100614072 single base substitution G A downstream_gene_variant PACA-CA X 100614072 100614072 single base substitution G A intron_variant PACA-CA X 100614072 100614072 single base substitution G A upstream_gene_variant PACA-CA X 100615021 100615021 single base substitution T G downstream_gene_variant PACA-CA X 100615021 100615021 single base substitution T G intron_variant PACA-CA X 100615021 100615021 single base substitution T G upstream_gene_variant PACA-CA X 100615025 100615025 single base substitution G T downstream_gene_variant PACA-CA X 100615025 100615025 single base substitution G T intron_variant PACA-CA X 100615025 100615025 single base substitution G T upstream_gene_variant PACA-CA X 100616019 100616019 single base substitution C T downstream_gene_variant PACA-CA X 100616019 100616019 single base substitution C T intron_variant PACA-CA X 100616019 100616019 single base substitution C T upstream_gene_variant PACA-CA X 100617993 100617993 single base substitution T C intron_variant PACA-CA X 100617993 100617993 single base substitution T C upstream_gene_variant PACA-CA X 100619928 100619928 single base substitution C T intron_variant PACA-CA X 100619928 100619928 single base substitution C T upstream_gene_variant PACA-CA X 100620023 100620023 single base substitution C T intron_variant PACA-CA X 100620023 100620023 single base substitution C T upstream_gene_variant PACA-CA X 100621778 100621778 single base substitution T G intron_variant PACA-CA X 100621778 100621778 single base substitution T G upstream_gene_variant PACA-CA X 100622645 100622645 single base substitution T A intron_variant PACA-CA X 100622645 100622645 single base substitution T A upstream_gene_variant PACA-CA X 100622976 100622976 single base substitution C A intron_variant PACA-CA X 100622977 100622977 single base substitution C A intron_variant PACA-CA X 100624842 100624842 insertion of <=200bp - T downstream_gene_variant PACA-CA X 100624842 100624842 insertion of <=200bp - T intron_variant PACA-CA X 100625906 100625907 deletion of <=200bp GT - downstream_gene_variant PACA-CA X 100625906 100625907 deletion of <=200bp GT - intron_variant PACA-CA X 100625910 100625922 deletion of <=200bp ATTTGATATAGTC - downstream_gene_variant PACA-CA X 100625910 100625922 deletion of <=200bp ATTTGATATAGTC - intron_variant PACA-CA X 100627898 100627898 single base substitution C A downstream_gene_variant PACA-CA X 100627898 100627898 single base substitution C A intron_variant PACA-CA X 100627899 100627899 single base substitution C A downstream_gene_variant PACA-CA X 100627899 100627899 single base substitution C A intron_variant PACA-CA X 100629041 100629041 single base substitution A G downstream_gene_variant PACA-CA X 100629041 100629041 single base substitution A G intron_variant PACA-CA X 100630050 100630050 single base substitution A G intron_variant PACA-CA X 100630413 100630413 single base substitution C G intron_variant PACA-CA X 100638234 100638234 single base substitution T C intron_variant PACA-CA X 100641386 100641386 single base substitution T A upstream_gene_variant PACA-CA X 100643011 100643011 single base substitution C T upstream_gene_variant PAEN-AU X 100625254 100625254 single base substitution T G downstream_gene_variant PAEN-AU X 100625254 100625254 single base substitution T G intron_variant PAEN-AU X 100626166 100626166 single base substitution G T downstream_gene_variant PAEN-AU X 100626166 100626166 single base substitution G T intron_variant PAEN-IT X 100644579 100644579 single base substitution C A upstream_gene_variant PBCA-DE X 100605430 100605430 single base substitution G A downstream_gene_variant PBCA-DE X 100605430 100605430 single base substitution G A intron_variant PBCA-DE X 100611318 100611318 single base substitution C T downstream_gene_variant PBCA-DE X 100611318 100611318 single base substitution C T intron_variant PBCA-DE X 100611318 100611318 single base substitution C T upstream_gene_variant PBCA-DE X 100615649 100615649 single base substitution A G downstream_gene_variant PBCA-DE X 100615649 100615649 single base substitution A G missense_variant M228T 683T>C PBCA-DE X 100615649 100615649 single base substitution A G upstream_gene_variant PBCA-DE X 100616202 100616202 insertion of <=200bp - A downstream_gene_variant PBCA-DE X 100616202 100616202 insertion of <=200bp - A intron_variant PBCA-DE X 100616202 100616202 insertion of <=200bp - A upstream_gene_variant PBCA-DE X 100621699 100621699 deletion of <=200bp C - intron_variant PBCA-DE X 100621699 100621699 deletion of <=200bp C - upstream_gene_variant PBCA-DE X 100622626 100622626 insertion of <=200bp - AAAT intron_variant PBCA-DE X 100622626 100622626 insertion of <=200bp - AAAT upstream_gene_variant PBCA-DE X 100622972 100622972 deletion of <=200bp T - intron_variant PBCA-DE X 100626588 100626588 single base substitution C T downstream_gene_variant PBCA-DE X 100626588 100626588 single base substitution C T intron_variant PBCA-DE X 100630985 100630985 single base substitution T C intron_variant PBCA-DE X 100632332 100632332 single base substitution A C intron_variant PBCA-DE X 100632785 100632785 deletion of <=200bp T - intron_variant PBCA-DE X 100635646 100635658 deletion of <=200bp CATATTATTATTA - intron_variant PBCA-DE X 100637519 100637519 single base substitution G A intron_variant PBCA-DE X 100637889 100637889 single base substitution G T intron_variant PRAD-CA X 100604886 100604886 single base substitution T C downstream_gene_variant PRAD-CA X 100604886 100604886 single base substitution T C missense_variant D480G 1439A>G PRAD-CA X 100604886 100604886 single base substitution T C missense_variant D656G 1967A>G PRAD-CA X 100638241 100638241 single base substitution A C intron_variant PRAD-CA X 100643002 100643002 single base substitution C T upstream_gene_variant PRAD-UK X 100636070 100636070 single base substitution C T intron_variant PRAD-US X 100630266 100630266 single base substitution C A exon_variant PRAD-US X 100630266 100630266 single base substitution C A missense_variant A3S 7G>T READ-US X 100603598 100603598 single base substitution A G downstream_gene_variant RECA-EU X 100608617 100608617 single base substitution G T downstream_gene_variant RECA-EU X 100608617 100608617 single base substitution G T intron_variant RECA-EU X 100624018 100624018 single base substitution A G intron_variant RECA-EU X 100630759 100630759 single base substitution C A intron_variant RECA-EU X 100631076 100631076 single base substitution C G intron_variant RECA-EU X 100638188 100638188 single base substitution G A intron_variant SKCA-BR X 100601100 100601100 single base substitution T C downstream_gene_variant SKCA-BR X 100604116 100604116 single base substitution G A downstream_gene_variant SKCA-BR X 100606305 100606305 single base substitution C T downstream_gene_variant SKCA-BR X 100606305 100606305 single base substitution C T intron_variant SKCA-BR X 100606343 100606343 single base substitution C T downstream_gene_variant SKCA-BR X 100606343 100606343 single base substitution C T intron_variant SKCA-BR X 100612687 100612687 single base substitution C T downstream_gene_variant SKCA-BR X 100612687 100612687 single base substitution C T intron_variant SKCA-BR X 100612687 100612687 single base substitution C T upstream_gene_variant SKCA-BR X 100617779 100617779 single base substitution C T exon_variant SKCA-BR X 100617779 100617779 single base substitution C T intron_variant SKCA-BR X 100617779 100617779 single base substitution C T upstream_gene_variant SKCA-BR X 100618712 100618712 single base substitution G A intron_variant SKCA-BR X 100618712 100618712 single base substitution G A upstream_gene_variant SKCA-BR X 100619413 100619413 single base substitution G A intron_variant SKCA-BR X 100619413 100619413 single base substitution G A upstream_gene_variant SKCA-BR X 100619833 100619833 single base substitution G A intron_variant SKCA-BR X 100619833 100619833 single base substitution G A upstream_gene_variant SKCA-BR X 100621584 100621584 single base substitution G A intron_variant SKCA-BR X 100621584 100621584 single base substitution G A upstream_gene_variant SKCA-BR X 100623772 100623772 single base substitution C T intron_variant SKCA-BR X 100623786 100623786 single base substitution C T intron_variant SKCA-BR X 100623787 100623787 single base substitution C T intron_variant SKCA-BR X 100623862 100623862 single base substitution A G intron_variant SKCA-BR X 100629534 100629534 single base substitution C T exon_variant SKCA-BR X 100629534 100629534 single base substitution C T missense_variant R77K 230G>A SKCA-BR X 100634713 100634713 single base substitution C T intron_variant SKCA-BR X 100637053 100637053 single base substitution C T intron_variant SKCA-BR X 100637230 100637230 single base substitution G A intron_variant SKCA-BR X 100639201 100639201 single base substitution G A intron_variant SKCA-BR X 100639345 100639345 single base substitution G A intron_variant SKCA-BR X 100641453 100641453 single base substitution G A upstream_gene_variant SKCA-BR X 100641584 100641584 single base substitution C T upstream_gene_variant SKCA-BR X 100642609 100642609 single base substitution G A upstream_gene_variant SKCM-US X 100601521 100601521 single base substitution G A downstream_gene_variant SKCM-US X 100608220 100608220 single base substitution C T downstream_gene_variant SKCM-US X 100608220 100608220 single base substitution C T exon_variant SKCM-US X 100608220 100608220 single base substitution C T missense_variant E448K 1342G>A SKCM-US X 100608220 100608220 single base substitution C T missense_variant E624K 1870G>A SKCM-US X 100608315 100608315 single base substitution G A downstream_gene_variant SKCM-US X 100608315 100608315 single base substitution G A exon_variant SKCM-US X 100608315 100608315 single base substitution G A missense_variant S416F 1247C>T SKCM-US X 100608315 100608315 single base substitution G A missense_variant S592F 1775C>T SKCM-US X 100608324 100608324 single base substitution T C downstream_gene_variant SKCM-US X 100608324 100608324 single base substitution T C exon_variant SKCM-US X 100608324 100608324 single base substitution T C missense_variant E413G 1238A>G SKCM-US X 100608324 100608324 single base substitution T C missense_variant E589G 1766A>G SKCM-US X 100608963 100608963 single base substitution C T downstream_gene_variant SKCM-US X 100608963 100608963 single base substitution C T exon_variant SKCM-US X 100608963 100608963 single base substitution C T missense_variant D373N 1117G>A SKCM-US X 100608963 100608963 single base substitution C T missense_variant D549N 1645G>A SKCM-US X 100609665 100609665 single base substitution C A downstream_gene_variant SKCM-US X 100609665 100609665 single base substitution C A missense_variant L352F 1056G>T SKCM-US X 100609665 100609665 single base substitution C A missense_variant L528F 1584G>T SKCM-US X 100609665 100609665 single base substitution C A upstream_gene_variant SKCM-US X 100611058 100611058 single base substitution C T downstream_gene_variant SKCM-US X 100611058 100611058 single base substitution C T exon_variant SKCM-US X 100611058 100611058 single base substitution C T intron_variant SKCM-US X 100611058 100611058 single base substitution C T synonymous_variant Q516Q 1548G>A SKCM-US X 100611058 100611058 single base substitution C T upstream_gene_variant SKCM-US X 100611929 100611929 single base substitution C T exon_variant SKCM-US X 100611929 100611929 single base substitution C T intron_variant SKCM-US X 100611929 100611929 single base substitution C T missense_variant D398N 1192G>A SKCM-US X 100611929 100611929 single base substitution C T upstream_gene_variant SKCM-US X 100611935 100611935 single base substitution C T exon_variant SKCM-US X 100611935 100611935 single base substitution C T intron_variant SKCM-US X 100611935 100611935 single base substitution C T missense_variant E396K 1186G>A SKCM-US X 100611935 100611935 single base substitution C T upstream_gene_variant SKCM-US X 100612548 100612548 single base substitution G A downstream_gene_variant SKCM-US X 100612548 100612548 single base substitution G A exon_variant SKCM-US X 100612548 100612548 single base substitution G A intron_variant SKCM-US X 100612548 100612548 single base substitution G A missense_variant P376S 1126C>T SKCM-US X 100612548 100612548 single base substitution G A upstream_gene_variant SKCM-US X 100613678 100613678 single base substitution C T downstream_gene_variant SKCM-US X 100613678 100613678 single base substitution C T missense_variant E301K 901G>A SKCM-US X 100613678 100613678 single base substitution C T upstream_gene_variant SKCM-US X 100615121 100615121 single base substitution G A downstream_gene_variant SKCM-US X 100615121 100615121 single base substitution G A missense_variant P265L 794C>T SKCM-US X 100615121 100615121 single base substitution G A upstream_gene_variant SKCM-US X 100615596 100615596 single base substitution C T downstream_gene_variant SKCM-US X 100615596 100615596 single base substitution C T missense_variant E246K 736G>A SKCM-US X 100615596 100615596 single base substitution C T upstream_gene_variant SKCM-US X 100617189 100617189 single base substitution G A exon_variant SKCM-US X 100617189 100617189 single base substitution G A missense_variant P187L 560C>T SKCM-US X 100617189 100617189 single base substitution G A upstream_gene_variant SKCM-US X 100617210 100617210 single base substitution G A exon_variant SKCM-US X 100617210 100617210 single base substitution G A missense_variant S180F 539C>T SKCM-US X 100617210 100617210 single base substitution G A upstream_gene_variant SKCM-US X 100625005 100625005 single base substitution C T downstream_gene_variant SKCM-US X 100625005 100625005 single base substitution C T stop_gained W124* 372G>A SKCM-US X 100625006 100625006 single base substitution C T downstream_gene_variant SKCM-US X 100625006 100625006 single base substitution C T stop_gained W124* 371G>A SKCM-US X 100625025 100625025 single base substitution C T downstream_gene_variant SKCM-US X 100625025 100625025 single base substitution C T missense_variant E118K 352G>A SKCM-US X 100625055 100625055 single base substitution C T downstream_gene_variant SKCM-US X 100625055 100625055 single base substitution C T missense_variant E108K 322G>A SKCM-US X 100626636 100626636 single base substitution G A downstream_gene_variant SKCM-US X 100626636 100626636 single base substitution G A synonymous_variant F98F 294C>T SKCM-US X 100626668 100626668 single base substitution C T downstream_gene_variant SKCM-US X 100626668 100626668 single base substitution C T missense_variant E88K 262G>A SKCM-US X 100626688 100626688 single base substitution C T downstream_gene_variant SKCM-US X 100626688 100626688 single base substitution C T missense_variant R81K 242G>A SKCM-US X 100630261 100630261 single base substitution C T exon_variant SKCM-US X 100630261 100630261 single base substitution C T synonymous_variant V4V 12G>A SKCM-US X 100645981 100645981 single base substitution C T upstream_gene_variant STAD-US X 100601606 100601606 single base substitution C T downstream_gene_variant STAD-US X 100603603 100603603 single base substitution G T downstream_gene_variant STAD-US X 100608210 100608210 single base substitution T C downstream_gene_variant STAD-US X 100608210 100608210 single base substitution T C exon_variant STAD-US X 100608210 100608210 single base substitution T C missense_variant Y451C 1352A>G STAD-US X 100608210 100608210 single base substitution T C missense_variant Y627C 1880A>G STAD-US X 100609618 100609618 single base substitution C A downstream_gene_variant STAD-US X 100609618 100609618 single base substitution C A missense_variant R368M 1103G>T STAD-US X 100609618 100609618 single base substitution C A missense_variant R544M 1631G>T STAD-US X 100609618 100609618 single base substitution C A upstream_gene_variant STAD-US X 100613407 100613407 single base substitution T C downstream_gene_variant STAD-US X 100613407 100613407 single base substitution T C missense_variant I331M 993A>G STAD-US X 100613407 100613407 single base substitution T C upstream_gene_variant STAD-US X 100613619 100613619 single base substitution A G downstream_gene_variant STAD-US X 100613619 100613619 single base substitution A G synonymous_variant F320F 960T>C STAD-US X 100613619 100613619 single base substitution A G upstream_gene_variant STAD-US X 100617587 100617587 deletion of <=200bp T - exon_variant STAD-US X 100617587 100617587 deletion of <=200bp T - frameshift_variant N161 STAD-US X 100617587 100617587 deletion of <=200bp T - upstream_gene_variant STAD-US X 100625041 100625041 single base substitution G A downstream_gene_variant STAD-US X 100625041 100625041 single base substitution G A synonymous_variant Y112Y 336C>T STAD-US X 100629566 100629566 single base substitution T A exon_variant STAD-US X 100629566 100629566 single base substitution T A synonymous_variant T66T 198A>T THCA-SA X 100604757 100604757 single base substitution T G 3_prime_UTR_variant THCA-SA X 100604757 100604757 single base substitution T G downstream_gene_variant THCA-US X 100630267 100630267 single base substitution G A exon_variant THCA-US X 100630267 100630267 single base substitution G A synonymous_variant A2A 6C>T UCEC-US X 100601556 100601556 single base substitution C G downstream_gene_variant UCEC-US X 100603562 100603562 single base substitution G A downstream_gene_variant UCEC-US X 100609634 100609634 single base substitution C T downstream_gene_variant UCEC-US X 100609634 100609634 single base substitution C T missense_variant D363N 1087G>A UCEC-US X 100609634 100609634 single base substitution C T missense_variant D539N 1615G>A UCEC-US X 100609634 100609634 single base substitution C T upstream_gene_variant UCEC-US X 100611138 100611138 single base substitution G A downstream_gene_variant UCEC-US X 100611138 100611138 single base substitution G A exon_variant UCEC-US X 100611138 100611138 single base substitution G A intron_variant UCEC-US X 100611138 100611138 single base substitution G A missense_variant R490C 1468C>T UCEC-US X 100611138 100611138 single base substitution G A upstream_gene_variant UCEC-US X 100612524 100612524 single base substitution C T downstream_gene_variant UCEC-US X 100612524 100612524 single base substitution C T exon_variant UCEC-US X 100612524 100612524 single base substitution C T intron_variant UCEC-US X 100612524 100612524 single base substitution C T missense_variant A384T 1150G>A UCEC-US X 100612524 100612524 single base substitution C T upstream_gene_variant UCEC-US X 100614295 100614295 single base substitution G T downstream_gene_variant UCEC-US X 100614295 100614295 single base substitution G T missense_variant L294M 880C>A UCEC-US X 100614295 100614295 single base substitution G T upstream_gene_variant UCEC-US X 100614309 100614309 single base substitution C T downstream_gene_variant UCEC-US X 100614309 100614309 single base substitution C T missense_variant S289N 866G>A UCEC-US X 100614309 100614309 single base substitution C T upstream_gene_variant UCEC-US X 100615678 100615678 single base substitution C A downstream_gene_variant UCEC-US X 100615678 100615678 single base substitution C A missense_variant K218N 654G>T UCEC-US X 100615678 100615678 single base substitution C A upstream_gene_variant UCEC-US X 100615741 100615741 single base substitution G T downstream_gene_variant UCEC-US X 100615741 100615741 single base substitution G T splice_region_variant UCEC-US X 100615741 100615741 single base substitution G T upstream_gene_variant UCEC-US X 100617556 100617556 single base substitution C A exon_variant UCEC-US X 100617556 100617556 single base substitution C A missense_variant R171S 513G>T UCEC-US X 100617556 100617556 single base substitution C A upstream_gene_variant UCEC-US X 100617570 100617570 single base substitution T C exon_variant UCEC-US X 100617570 100617570 single base substitution T C missense_variant I167V 499A>G UCEC-US X 100617570 100617570 single base substitution T C upstream_gene_variant UCEC-US X 100624986 100624986 single base substitution C T downstream_gene_variant UCEC-US X 100624986 100624986 single base substitution C T missense_variant V131I 391G>A UCEC-US X 100630137 100630137 single base substitution G A exon_variant UCEC-US X 100630137 100630137 single base substitution G A missense_variant R46C 136C>T UCEC-US X 100630195 100630195 single base substitution C A exon_variant UCEC-US X 100630195 100630195 single base substitution C A missense_variant K26N 78G>T UCEC-US X 100630208 100630208 single base substitution G T exon_variant UCEC-US X 100630208 100630208 single base substitution G T missense_variant P22H 65C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AA-A00N-01 COSM274180 c.152G>A p.S51N Substitution - Missense 23:101374624-101374624 - TCGA-A2-A0CX-01 COSM456333 c.684G>C p.M228I Substitution - Missense 23:101360660-101360660 - 2293782 COSM4609481 c.91C>A p.L31I Substitution - Missense 23:101375194-101375194 - SW48 COSM2734326 c.237T>C p.I79I Substitution - coding silent 23:101374539-101374539 - TCGA-21-1076-01 COSM754956 c.1349+1G>T p.? Unknown 23:101356783-101356783 - T578 COSM4666378 c.444C>T p.I148I Substitution - coding silent 23:101362637-101362637 - 2492720 COSM5724457 c.218C>T p.P73L Substitution - Missense 23:101374558-101374558 - ASHPC_0034_Pa_P COSM5420159 c.1359C>T p.S453S Substitution - coding silent 23:101356259-101356259 - KYSE-450 COSM2734296 c.1409T>G p.I470S Substitution - Missense 23:101356209-101356209 - BK0043 COSM4187633 c.377A>G p.H126R Substitution - Missense 23:101370012-101370012 - TCGA-EE-A3AE-06 COSM3555949 c.322G>A p.E108K Substitution - Missense 23:101370067-101370067 - TCGA-EA-A6QX-01 COSM4828789 c.934G>T p.A312S Substitution - Missense 23:101358657-101358657 - AA2 COSM4167468 c.1640T>A p.L547Q Substitution - Missense 23:101353980-101353980 - 2290930 COSM4440679 c.1227delG p.T410fs*6 Deletion - Frameshift 23:101356906-101356906 - TCGA-ER-A1A1-06 COSM3555939 c.1186G>A p.E396K Substitution - Missense 23:101356947-101356947 - WA48 COSM237053 c.975-8T>G p.? Unknown 23:101358445-101358445 - TCGA-D3-A2JN-06 COSM3555941 c.901G>A p.E301K Substitution - Missense 23:101358690-101358690 - TCGA-FP-A4BE-01 COSM4105349 c.336C>T p.Y112Y Substitution - coding silent 23:101370053-101370053 - 503LT COSM4383126 c.1800A>T p.R600S Substitution - Missense 23:101353302-101353302 - PT52 COSM5941121 c.1689G>A p.W563* Substitution - Nonsense 23:101353931-101353931 - 2492723 COSM5724457 c.218C>T p.P73L Substitution - Missense 23:101374558-101374558 - TCGA-26-5139 COSM2157160 c.1386C>T p.G462G Substitution - coding silent 23:101356232-101356232 - TCGA-GF-A6C9-06 COSM4900080 c.262G>A p.E88K Substitution - Missense 23:101371680-101371680 - CN-AML-08-T COSM5009505 c.1899C>T p.C633C Substitution - coding silent 23:101353203-101353203 - TCGA-AZ-4315-01 COSM1464402 c.1559G>A p.R520Q Substitution - Missense 23:101356059-101356059 - TCGA-66-2727-01 COSM754950 c.42C>A p.S14S Substitution - coding silent 23:101375243-101375243 - TCGA-CA-6717-01 COSM3694246 c.264A>C p.E88D Substitution - Missense 23:101371678-101371678 - CCC6 COSM3708353 c.368G>A p.R123Q Substitution - Missense 23:101370021-101370021 - C135 COSM4618888 c.1474C>T p.R492C Substitution - Missense 23:101356144-101356144 - T2950 COSM4666377 c.1059C>T p.S353S Substitution - coding silent 23:101358353-101358353 - Pat_41_B COSM5876671 c.1462G>A p.E488K Substitution - Missense 23:101356156-101356156 - TCGA-D3-A2JO-06 COSM3555936 c.1584G>T p.L528F Substitution - Missense 23:101354677-101354677 - TCGA-E9-A54X-01 COSM3843004 c.820G>A p.D274N Substitution - Missense 23:101360107-101360107 - 12-P8001 COSM4589075 c.609G>A p.P203P Substitution - coding silent 23:101360735-101360735 - I2L-P10-Tumor-Organoid COSM5366814 c.48G>T p.Q16H Substitution - Missense 23:101375237-101375237 - cSCCP7 COSM140332 c.1300G>A p.E434K Substitution - Missense 23:101356833-101356833 - D15 COSM2734299 c.1279G>A p.V427M Substitution - Missense 23:101356854-101356854 - TCGA-BS-A0UV-01 COSM1111832 c.1615G>A p.D539N Substitution - Missense 23:101354646-101354646 - 2492702 COSM5716347 c.1515C>T p.V505V Substitution - coding silent 23:101356103-101356103 - HCC131T COSM5824537 c.1229C>A p.T410N Substitution - Missense 23:101356904-101356904 - T204 COSM4666375 c.1590C>T p.N530N Substitution - coding silent 23:101354671-101354671 - TCGA-ER-A19H-06 COSM3555942 c.794C>T p.P265L Substitution - Missense 23:101360133-101360133 - TCGA-D3-A3MV-06 COSM3555950 c.294C>T p.F98F Substitution - coding silent 23:101371648-101371648 - LUAD-NYU584S COSM375267 c.1006G>T p.V336L Substitution - Missense 23:101358406-101358406 - Pat_26_A COSM5876672 c.1333G>A p.E445K Substitution - Missense 23:101356800-101356800 - TCGA-AG-A002-01 COSM259678 c.995G>A p.R332H Substitution - Missense 23:101358417-101358417 - TCGA-60-2698-01 COSM754952 c.496C>A p.Q166K Substitution - Missense 23:101362585-101362585 - TCGA-DU-5852-01 COSM3973053 c.987G>T p.G329G Substitution - coding silent 23:101358425-101358425 - T3090 COSM4666374 c.1599A>T p.G533G Substitution - coding silent 23:101354662-101354662 - TCGA-AX-A05Z-01 COSM1111863 c.65C>A p.P22H Substitution - Missense 23:101375220-101375220 - TCGA-A8-A06U-01 COSM259678 c.995G>A p.R332H Substitution - Missense 23:101358417-101358417 - TCGA-AA-A00N-01 COSM274179 c.1001A>G p.Y334C Substitution - Missense 23:101358411-101358411 - TCGA-D3-A2JF-06 COSM3555944 c.539C>T p.S180F Substitution - Missense 23:101362222-101362222 - S01728 COSM309556 c.1803T>C p.F601F Substitution - coding silent 23:101353299-101353299 - CSCC-27-T COSM4468807 c.1564C>T p.L522L Substitution - coding silent 23:101356054-101356054 - B111-Tumor COSM4004972 c.1922G>A p.R641H Substitution - Missense 23:101349943-101349943 - TCGA-61-1907-01 COSM1331412 c.402C>T p.Y134Y Substitution - coding silent 23:101362679-101362679 - tumor_4113825 COSM5947339 c.1735G>C p.D579H Substitution - Missense 23:101353885-101353885 - CHC2215T COSM5347307 c.215delA p.N72fs*49 Deletion - Frameshift 23:101374561-101374561 - TCGA-EE-A2MR-06 COSM3555940 c.1126C>T p.P376S Substitution - Missense 23:101357560-101357560 - TCGA-G4-6586-01 COSM1111834 c.1468C>T p.R490C Substitution - Missense 23:101356150-101356150 - WT053 COSM5352153 c.485C>T p.A162V Substitution - Missense 23:101362596-101362596 - TCGA-D3-A51T-06 COSM3555935 c.1645G>A p.D549N Substitution - Missense 23:101353975-101353975 - S02384 COSM5698607 c.239C>A p.P80Q Substitution - Missense 23:101374537-101374537 - 3765_T COSM3964452 c.1350-4G>T p.? Unknown 23:101356272-101356272 - PD8964a COSM4376352 c.975-3C>T p.? Unknown 23:101358440-101358440 - SA054 COSM213104 c.975-1G>T p.? Unknown 23:101358438-101358438 - T368 COSM4666376 c.1432G>A p.A478T Substitution - Missense 23:101356186-101356186 - PD4176a COSM130429 c.1659C>T p.S553S Substitution - coding silent 23:101353961-101353961 - tumor_4121361 COSM3357362 c.1081T>A p.Y361N Substitution - Missense 23:101358331-101358331 - PAPLDL COSM5004424 c.1349+10A>C p.? Unknown 23:101356774-101356774 - 86785 COSM93985 c.740G>A p.S247N Substitution - Missense 23:101360604-101360604 - TCGA-BS-A0TC-01 COSM1111844 c.591C>A p.I197I Substitution - coding silent 23:101360753-101360753 - TCGA-D1-A102-01 COSM1111855 c.391G>A p.V131I Substitution - Missense 23:101369998-101369998 - TCGA-AP-A051-01 COSM1111834 c.1468C>T p.R490C Substitution - Missense 23:101356150-101356150 - TCGA-26-5139-01 COSM2157160 c.1386C>T p.G462G Substitution - coding silent 23:101356232-101356232 - 86791 COSM95784 c.537T>C p.S179S Substitution - coding silent 23:101362224-101362224 - TCGA-24-1849-01 COSM1331413 c.491G>C p.G164A Substitution - Missense 23:101362590-101362590 - TCGA-BH-A42V-01 COSM1315069 c.577G>A p.E193K Substitution - Missense 23:101362184-101362184 - TCGA-FK-A3SH-01 COSM3371971 c.6C>T p.A2A Substitution - coding silent 23:101375279-101375279 - 587342 COSM199617 c.863G>A p.R288Q Substitution - Missense 23:101359324-101359324 - P100 COSM199616 c.1475G>A p.R492H Substitution - Missense 23:101356143-101356143 - PD1362a COSM12804 c.568_569CC>AA p.P190K Substitution - Missense 23:101362192-101362193 - 2492722 COSM5724457 c.218C>T p.P73L Substitution - Missense 23:101374558-101374558 - PD1362a COSM12804 c.568_569CC>AA p.P190K Substitution - Missense 23:101362192-101362193 - TCGA-BR-8487-01 COSM4105347 c.993A>G p.I331M Substitution - Missense 23:101358419-101358419 - TCGA-Q1-A6DT-01 COSM4850879 c.1841T>A p.L614Q Substitution - Missense 23:101353261-101353261 - RK053_C01 COSM3747214 c.1103-3C>T p.? Unknown 23:101357586-101357586 - LUAD-NYU282 COSM372497 c.1630A>T p.R544W Substitution - Missense 23:101354631-101354631 - LUAD-NYU1051S COSM369055 c.1744G>A p.A582T Substitution - Missense 23:101353876-101353876 - PT46 COSM5930127 c.1185G>A p.W395* Substitution - Nonsense 23:101356948-101356948 - TCGA-C5-A1BI-01 COSM4841547 c.1909-1G>C p.? Unknown 23:101349957-101349957 - 2492721 COSM5724457 c.218C>T p.P73L Substitution - Missense 23:101374558-101374558 - S02400 COSM5699985 c.763C>T p.R255* Substitution - Nonsense 23:101360581-101360581 - TCGA-AX-A0J0-01 COSM1111848 c.499A>G p.I167V Substitution - Missense 23:101362582-101362582 - TCGA-CK-5916-01 COSM2734300 c.1278C>T p.D426D Substitution - coding silent 23:101356855-101356855 - TCGA-A6-5665-01 COSM1464400 c.1818T>G p.T606T Substitution - coding silent 23:101353284-101353284 - TCGA-06-0184-01 COSM43034 c.1522G>A p.A508T Substitution - Missense 23:101356096-101356096 - TCGA-37-3789-01 COSM754958 c.1480C>A p.Q494K Substitution - Missense 23:101356138-101356138 - TCGA-06-0184 COSM43034 c.1522G>A p.A508T Substitution - Missense 23:101356096-101356096 - TCGA-D8-A1X9-01 COSM1490257 c.178A>G p.K60E Substitution - Missense 23:101374598-101374598 - TCGA-EE-A2GM-06 COSM3555938 c.1192G>A p.D398N Substitution - Missense 23:101356941-101356941 - P100 COSM5009370 c.367C>T p.R123W Substitution - Missense 23:101370022-101370022 - Pat_22_B COSM4440679 c.1227delG p.T410fs*6 Deletion - Frameshift 23:101356906-101356906 - T10 COSM5009505 c.1899C>T p.C633C Substitution - coding silent 23:101353203-101353203 - TCGA-G3-A25U-01 COSM4910954 c.1553T>C p.L518P Substitution - Missense 23:101356065-101356065 - TCGA-D3-A5GO-06 COSM3555952 c.12G>A p.V4V Substitution - coding silent 23:101375273-101375273 - ICGC_MB101 COSM3764944 c.683T>C p.M228T Substitution - Missense 23:101360661-101360661 - TCGA-BS-A0UF-01 COSM1111842 c.654G>T p.K218N Substitution - Missense 23:101360690-101360690 - CN-AML-NR-08-Dx COSM5009505 c.1899C>T p.C633C Substitution - coding silent 23:101353203-101353203 - CCC6T COSM3708353 c.368G>A p.R123Q Substitution - Missense 23:101370021-101370021 - TCGA-D9-A149-06 COSM3555943 c.736G>A p.E246K Substitution - Missense 23:101360608-101360608 - ICC008T COSM5823405 c.1351A>G p.N451D Substitution - Missense 23:101356267-101356267 - TCGA-DA-A1HV-06 COSM3555946 c.372G>A p.W124* Substitution - Nonsense 23:101370017-101370017 - HCC138T COSM1625304 c.442A>G p.I148V Substitution - Missense 23:101362639-101362639 - S01864 COSM5671914 c.808A>T p.T270S Substitution - Missense 23:101360119-101360119 - tumor_4158726 COSM3357363 c.725T>A p.F242Y Substitution - Missense 23:101360619-101360619 - TCGA-EE-A181-06 COSM3555934 c.1766A>G p.E589G Substitution - Missense 23:101353336-101353336 - 2492700 COSM5716249 c.1765G>A p.E589K Substitution - Missense 23:101353337-101353337 - LUAD-S01357 COSM388049 c.1659C>A p.S553R Substitution - Missense 23:101353961-101353961 - TCGA-70-6723-01 COSM754960 c.1935A>C p.K645N Substitution - Missense 23:101349930-101349930 - TCGA-D1-A15X-01 COSM1111840 c.866G>A p.S289N Substitution - Missense 23:101359321-101359321 - TCGA-AP-A059-01 COSM1111838 c.880C>A p.L294M Substitution - Missense 23:101359307-101359307 - BK0063 COSM4188456 c.1648G>A p.E550K Substitution - Missense 23:101353972-101353972 - TCGA-CA-6717-01 COSM1464401 c.1807A>G p.N603D Substitution - Missense 23:101353295-101353295 - TCGA-D5-6931-01 COSM1464405 c.569C>A p.P190Q Substitution - Missense 23:101362192-101362192 - HN_62415 COSM127084 c.241-2A>G p.? Unknown 23:101371703-101371703 - PD9595a COSM5775994 c.50A>C p.K17T Substitution - Missense 23:101375235-101375235 - pfg068T COSM4759378 c.1489C>T p.Q497* Substitution - Nonsense 23:101356129-101356129 - HCC2998 COSM2734333 c.54G>A p.K18K Substitution - coding silent 23:101375231-101375231 - TCGA-GM-A2D9-01 COSM3843005 c.420G>A p.Q140Q Substitution - coding silent 23:101362661-101362661 - TCGA-FS-A1ZZ-06 COSM3555937 c.1548G>A p.Q516Q Substitution - coding silent 23:101356070-101356070 - P85 COSM5009505 c.1899C>T p.C633C Substitution - coding silent 23:101353203-101353203 - YUDAB COSM1715293 c.764G>A p.R255Q Substitution - Missense 23:101360580-101360580 - TCGA-13-1489-01 COSM73871 c.1775C>T p.S592F Substitution - Missense 23:101353327-101353327 - YUKIL COSM1715294 c.169G>A p.D57N Substitution - Missense 23:101374607-101374607 - KYSE-180 COSM2734325 c.245G>A p.R82K Substitution - Missense 23:101371697-101371697 - TCGA-BG-A0M4-01 COSM1111859 c.82C>T p.R28C Substitution - Missense 23:101375203-101375203 - HCC138 COSM1625304 c.442A>G p.I148V Substitution - Missense 23:101362639-101362639 - PD4100a COSM159433 c.163T>G p.S55A Substitution - Missense 23:101374613-101374613 - TCGA-BF-A1PV-01 COSM3555933 c.1870G>A p.E624K Substitution - Missense 23:101353232-101353232 - PT15_1 COSM5898060 c.278C>T p.S93L Substitution - Missense 23:101371664-101371664 - pfg064T COSM4759379 c.1247T>C p.V416A Substitution - Missense 23:101356886-101356886 - tumor_4134005 COSM3357361 c.1349+6T>G p.? Unknown 23:101356778-101356778 - TCGA-BT-A3PK-01 COSM3800301 c.482A>C p.N161T Substitution - Missense 23:101362599-101362599 - PT21_2 COSM5902181 c.777-8C>T p.? Unknown 23:101360158-101360158 - BD175T COSM5507961 c.950T>G p.V317G Substitution - Missense 23:101358641-101358641 - sysucc-311T COSM5467791 c.88T>C p.F30L Substitution - Missense 23:101375197-101375197 - TCGA-BF-A3DM-01 COSM3913100 c.560C>T p.P187L Substitution - Missense 23:101362201-101362201 - TCGA-BR-4368-01 COSM4105346 c.1631G>T p.R544M Substitution - Missense 23:101354630-101354630 - 503T COSM4383126 c.1800A>T p.R600S Substitution - Missense 23:101353302-101353302 - TCGA-D3-A3MR-06 COSM3555948 c.352G>A p.E118K Substitution - Missense 23:101370037-101370037 - LUAD-CHTN-Z4716A COSM362703 c.6C>A p.A2A Substitution - coding silent 23:101375279-101375279 - S01728 COSM309556 c.1803T>C p.F601F Substitution - coding silent 23:101353299-101353299 - TCGA-B5-A11R-01 COSM1111861 c.78G>T p.K26N Substitution - Missense 23:101375207-101375207 - TCGA-18-5592-01 COSM754953 c.621A>G p.A207A Substitution - coding silent 23:101360723-101360723 - TCGA-BH-A0B5-01 COSM456332 c.892G>A p.E298K Substitution - Missense 23:101359295-101359295 - Br27P COSM39885 c.1471C>T p.H491Y Substitution - Missense 23:101356147-101356147 - TCGA-AP-A051-01 COSM1111857 c.136C>T p.R46C Substitution - Missense 23:101375149-101375149 - TCGA-CZ-4858-01 COSM39885 c.1471C>T p.H491Y Substitution - Missense 23:101356147-101356147 - CPCG0236-F1 COSM4880670 c.1967A>G p.D656G Substitution - Missense 23:101349898-101349898 - TCGA-GD-A3OP-01 COSM1315069 c.577G>A p.E193K Substitution - Missense 23:101362184-101362184 - TCGA-D8-A1JA-01 COSM3843003 c.1574G>C p.R525P Substitution - Missense 23:101354687-101354687 - TCGA-JX-A3Q0-01 COSM4824790 c.1021C>G p.Q341E Substitution - Missense 23:101358391-101358391 - TCGA-FS-A1Z3-06 COSM3555947 c.371G>A p.W124* Substitution - Nonsense 23:101370018-101370018 - TCGA-DK-A1A3-01 COSM422290 c.1813G>A p.E605K Substitution - Missense 23:101353289-101353289 - TCGA-34-5927-01 COSM754954 c.957G>C p.V319V Substitution - coding silent 23:101358634-101358634 - TCGA-43-5668-01 COSM754959 c.1558C>A p.R520R Substitution - coding silent 23:101356060-101356060 - 8052570 COSM2734300 c.1278C>T p.D426D Substitution - coding silent 23:101356855-101356855 - CRC-02T COSM1555497 c.775G>T p.G259W Substitution - Missense 23:101360569-101360569 - TCGA-AA-A00N-01 COSM298595 c.526A>C p.K176Q Substitution - Missense 23:101362235-101362235 - tumor_4158726 COSM3357364 c.721T>G p.Y241D Substitution - Missense 23:101360623-101360623 - TCGA-CH-5761-01 COSM609990 c.7G>T p.A3S Substitution - Missense 23:101375278-101375278 - Au1 COSM5596366 c.976G>A p.D326N Substitution - Missense 23:101358436-101358436 - TCGA-EB-A4IS-01 COSM3555951 c.242G>A p.R81K Substitution - Missense 23:101371700-101371700 - TCGA-33-4566-01 COSM754957 c.1471C>G p.H491D Substitution - Missense 23:101356147-101356147 - Pat_59_A COSM5876674 c.379C>A p.Q127K Substitution - Missense 23:101370010-101370010 - PCSI_0093_Pa_X COSM3379446 c.897G>A p.G299G Substitution - coding silent 23:101358694-101358694 - TCGA-P5-A5F4-01 COSM4908769 c.654G>A p.K218K Substitution - coding silent 23:101360690-101360690 - sysucc-783T COSM5485108 c.761C>T p.A254V Substitution - Missense 23:101360583-101360583 - TCGA-G3-A7M6-01 COSM4927553 c.1638C>G p.V546V Substitution - coding silent 23:101353982-101353982 - YULONE COSM4666378 c.444C>T p.I148I Substitution - coding silent 23:101362637-101362637 - TCGA-FP-8211-01 COSM4105350 c.198A>T p.T66T Substitution - coding silent 23:101374578-101374578 - T3724 COSM4666373 c.1698G>A p.P566P Substitution - coding silent 23:101353922-101353922 - TCGA-BR-6452-01 COSM4105345 c.1880A>G p.Y627C Substitution - Missense 23:101353222-101353222 - TCGA-21-5782-01 COSM754951 c.103C>A p.H35N Substitution - Missense 23:101375182-101375182 - TCGA-B5-A11G-01 COSM1111836 c.1150G>A p.A384T Substitution - Missense 23:101357536-101357536 - TCGA-B5-A11E-01 COSM1111846 c.513G>T p.R171S Substitution - Missense 23:101362568-101362568 - Pat_15_B COSM5876673 c.566C>T p.P189L Substitution - Missense 23:101362195-101362195 - TCGA-BR-8078-01 COSM4105348 c.960T>C p.F320F Substitution - coding silent 23:101358631-101358631 - TCGA-DA-A1HY-06 COSM73871 c.1775C>T p.S592F Substitution - Missense 23:101353327-101353327 - BD197T COSM3708353 c.368G>A p.R123Q Substitution - Missense 23:101370021-101370021 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.159494 Xq21.33-q22 300300 2435515|CGAP|BC109079|A/C|non-coding||2220|Validated; 2435515|CGAP|BC109080|A/C|non-coding||2220|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.S55A c.163T>G X 100629601 BRCA A C Missense p.Y241D c.721T>G X 100615611 DLBCL A G IntronicSNV . c.1632-213T>C X 100609189 HC A G Missense p.M228T c.683T>C X 100615649 MB A G Synonymous p.F601F c.1803T>C X 100608287 SCLC A T IntronicSNV . c.142-149T>A X 100629771 NSCLC A T Missense p.F242Y c.725T>A X 100615607 DLBCL A T Missense p.Y361N c.1081T>A X 100613319 DLBCL C A Missense p.A3S c.7G>T X 100630266 LUAD C A Missense p.A3S c.7G>T X 100630266 PRAD C A Missense p.E194D c.582G>T X 100617167 LUAD C A Missense p.K26N c.78G>T X 100630195 UCEC C A Missense p.L528F c.1584G>T X 100609665 CM C A Missense p.R544M c.1631G>T X 100609618 STAD C A Nonsense p.E85* c.253G>T X 100626677 LUAD C A SpliceAcceptorSNV . c.1567-1G>T X 100609683 LUAD C A SpliceAcceptorSNV . c.392-1G>T X 100617678 HNSC C A SpliceAcceptorSNV . c.975-1G>T X 100613426 BRCA C A SpliceDonorSNV . c.1349+1G>T X 100611771 LUSC C A Synonymous p.G329G c.987G>T X 100613413 LGG CG AT MultiAAMissense p.F540_G541delinsLC c.1620_1621delinsAT X 100609628 CM C G Missense p.C145S c.434G>C X 100617635 LUAD C G Missense p.E599D c.1797G>C X 100608293 HNSC C G Missense p.M228I c.684G>C X 100615648 BRCA C G Synonymous p.V319V c.957G>C X 100613622 LUSC C T IntronicSNV . c.1566+16G>A X 100611024 CM C T Missense p.A384T c.1150G>A X 100612524 UCEC C T Missense p.A508T c.1522G>A X 100611084 GBM C T Missense p.D398N c.1192G>A X 100611929 CM C T Missense p.E108K c.322G>A X 100625055 CM C T Missense p.E118K c.352G>A X 100625025 CM C T Missense p.E193K c.577G>A X 100617172 BLCA C T Missense p.E245K c.733G>A X 100615599 HNSC C T Missense p.E246K c.736G>A X 100615596 CM C T Missense p.E298K c.892G>A X 100614283 BRCA C T Missense p.E301K c.901G>A X 100613678 CM C T Missense p.E396K c.1186G>A X 100611935 CM C T Missense p.E605K c.1813G>A X 100608277 BLCA C T Missense p.E624K c.1870G>A X 100608220 CM C T Missense p.R288Q c.863G>A X 100614312 COREAD C T Missense p.R332H c.995G>A X 100613405 BRCA C T Missense p.V131I c.391G>A X 100624986 UCEC C T Nonsense p.W124* c.371G>A X 100625006 CM C T Nonsense p.W124* c.372G>A X 100625005 CM C T Synonymous p.L512L c.1536G>A X 100611070 CM C T Synonymous p.Q516Q c.1548G>A X 100611058 CM G A Missense p.H491Y c.1471C>T X 100611135 RCCC G A Missense p.L647F c.1939C>T X 100604914 HNSC G A Missense p.P187L c.560C>T X 100617189 CM G A Missense p.P265L c.794C>T X 100615121 CM G A Missense p.P99S c.295C>T X 100626635 CM G A Missense p.S180F c.539C>T X 100617210 CM G A Missense p.S592F c.1775C>T X 100608315 CM G A Missense p.S592F c.1775C>T X 100608315 OV G A Missense p.T354I c.1061C>T X 100613339 LUAD G A Nonsense p.Q15* c.43C>T X 100630230 CM G A Synonymous p.A2A c.6C>T X 100630267 THCA G A Synonymous p.F98F c.294C>T X 100626636 CM G A Synonymous p.G262G c.786C>T X 100615129 LUAD G A Synonymous p.G462G c.1386C>T X 100611220 GBM G C Missense p.L11V c.31C>G X 100630242 LUAD G - Frameshift p.A3Qfs*2 c.6delC X 100630267 LUSC G T Missense p.H35N c.103C>A X 100630170 LUSC G T Missense p.H364N c.1090C>A X 100613310 LUAD G T Missense p.Q494K c.1480C>A X 100611126 LUSC G T Nonsense p.Y345* c.1035C>A X 100613365 LUAD G T Synonymous p.I197I c.591C>A X 100615741 UCEC G T Synonymous p.R520R c.1558C>A X 100611048 LUSC G T Synonymous p.S14S c.42C>A X 100630231 LUSC T A Missense p.E193V c.578A>T X 100617171 LUAD T A Synonymous p.V131V c.393A>T X 100617676 HNSC T C Missense p.E589G c.1766A>G X 100608324 CM T C Missense p.I197V c.589A>G X 100615743 LUAD T C Missense p.K60E c.178A>G X 100629586 BRCA T C SpliceAcceptorSNV . c.241-2A>G X 100626691 HNSC T C Synonymous p.A207A c.621A>G X 100615711 LUSC T G Missense p.K645N c.1935A>C X 100604918 LUSC T G Missense p.N161T c.482A>C X 100617587 BLCA