Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 8 104427284 104427284 + 5'UTR SNP G G A TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr8:104427284G>A BLCA 8 104427572 104427572 + 5'Flank SNP T T C TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr8:104427572T>C BLCA 8 104427646 104427646 + 5'Flank SNP C C G TCGA-DK-AA6L-01A-11D-A391-08 TCGA-DK-AA6L-10A-01D-A394-08 g.chr8:104427646C>G BLCA 8 104427720 104427720 + 5'Flank SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 g.chr8:104427720G>A BLCA 8 104438289 104438289 + Silent SNP T T G TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr8:104438289T>G c.840T>G c.(838-840)ggT>ggG p.G280G BLCA 8 104442886 104442886 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 g.chr8:104442886A>G c.1127A>G c.(1126-1128)tAc>tGc p.Y376C BLCA 8 104444893 104444893 + Missense_Mutation SNP T T G TCGA-ZF-AA4T-01A-11D-A38G-08 TCGA-ZF-AA4T-10A-01D-A38J-08 g.chr8:104444893T>G c.1165T>G c.(1165-1167)Tta>Gta p.L389V BLCA 8 104444895 104444895 + Missense_Mutation SNP A A T TCGA-ZF-AA4T-01A-11D-A38G-08 TCGA-ZF-AA4T-10A-01D-A38J-08 g.chr8:104444895A>T c.1167A>T c.(1165-1167)ttA>ttT p.L389F BLCA 8 104447996 104447996 + Missense_Mutation SNP C C A TCGA-UY-A9PF-01A-11D-A38G-08 TCGA-UY-A9PF-10A-01D-A38J-08 g.chr8:104447996C>A c.1384C>A c.(1384-1386)Cct>Act p.P462T BLCA 8 104452461 104452461 + Missense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr8:104452461C>T c.1504C>T c.(1504-1506)Cgc>Tgc p.R502C BLCA 8 104453809 104453809 + Missense_Mutation SNP C C G TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 g.chr8:104453809C>G c.1669C>G c.(1669-1671)Cag>Gag p.Q557E BRCA 8 104438284 104438284 + Splice_Site SNP G G C TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 g.chr8:104438284G>C c.835G>C c.(835-837)Gtt>Ctt p.V279L BRCA 8 104447988 104447988 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr8:104447988G>A c.1376G>A c.(1375-1377)cGa>cAa p.R459Q BRCA 8 104452383 104452383 + Missense_Mutation SNP A A G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 g.chr8:104452383A>G c.1426A>G c.(1426-1428)Aga>Gga p.R476G CESC 8 104427430 104427430 + 5'Flank SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 g.chr8:104427430C>G CESC 8 104452417 104452417 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 g.chr8:104452417C>G c.1460C>G c.(1459-1461)tCt>tGt p.S487C COAD 8 104427266 104427266 + 5'UTR SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr8:104427266C>T COAD 8 104427572 104427572 + 5'Flank SNP T T C TCGA-AD-6901-01A-11D-1924-10 TCGA-AD-6901-10A-01D-1924-10 g.chr8:104427572T>C COAD 8 104439410 104439410 + Missense_Mutation SNP G G T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr8:104439410G>T c.1010G>T c.(1009-1011)aGa>aTa p.R337I COAD 8 104439448 104439448 + Missense_Mutation SNP A A C TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr8:104439448A>C c.1048A>C c.(1048-1050)Agt>Cgt p.S350R COAD 8 104447883 104447883 + Missense_Mutation SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr8:104447883A>G c.1271A>G c.(1270-1272)gAc>gGc p.D424G COAD 8 104452459 104452459 + Missense_Mutation SNP T T A TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr8:104452459T>A c.1502T>A c.(1501-1503)aTt>aAt p.I501N COAD 8 104452462 104452462 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr8:104452462G>A c.1505G>A c.(1504-1506)cGc>cAc p.R502H COAD 8 104453713 104453713 + Missense_Mutation SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr8:104453713T>C c.1573T>C c.(1573-1575)Tat>Cat p.Y525H COADREAD 8 104427266 104427266 + 5'UTR SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr8:104427266C>T COADREAD 8 104427572 104427572 + 5'Flank SNP T T C TCGA-AD-6901-01A-11D-1924-10 TCGA-AD-6901-10A-01D-1924-10 g.chr8:104427572T>C COADREAD 8 104432596 104432596 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:104432596C>A c.631C>A c.(631-633)Ctt>Att p.L211I COADREAD 8 104433296 104433296 + Missense_Mutation SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:104433296A>G c.820A>G c.(820-822)Act>Gct p.T274A COADREAD 8 104439410 104439410 + Missense_Mutation SNP G G T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr8:104439410G>T c.1010G>T c.(1009-1011)aGa>aTa p.R337I COADREAD 8 104439448 104439448 + Missense_Mutation SNP A A C TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr8:104439448A>C c.1048A>C c.(1048-1050)Agt>Cgt p.S350R COADREAD 8 104447883 104447883 + Missense_Mutation SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr8:104447883A>G c.1271A>G c.(1270-1272)gAc>gGc p.D424G COADREAD 8 104452459 104452459 + Missense_Mutation SNP T T A TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr8:104452459T>A c.1502T>A c.(1501-1503)aTt>aAt p.I501N COADREAD 8 104452462 104452462 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr8:104452462G>A c.1505G>A c.(1504-1506)cGc>cAc p.R502H COADREAD 8 104453713 104453713 + Missense_Mutation SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr8:104453713T>C c.1573T>C c.(1573-1575)Tat>Cat p.Y525H COADREAD 8 104453843 104453843 + Missense_Mutation SNP G G A TCGA-AG-A026-01A-32W-A096-10 TCGA-AG-A026-10A-01W-A096-10 g.chr8:104453843G>A c.1703G>A c.(1702-1704)cGa>cAa p.R568Q ESCA 8 104427572 104427572 + 5'Flank SNP T T C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 g.chr8:104427572T>C ESCA 8 104427646 104427646 + 5'Flank SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr8:104427646C>A ESCA 8 104438329 104438329 + Missense_Mutation SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 g.chr8:104438329G>T c.880G>T c.(880-882)Ggc>Tgc p.G294C ESCA 8 104439377 104439377 + Missense_Mutation SNP G G A TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 g.chr8:104439377G>A c.977G>A c.(976-978)tGt>tAt p.C326Y GBM 8 104427337 104427338 + 5'Flank INS - - G TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 g.chr8:104427337_104427338insG GBM 8 104452461 104452461 + Missense_Mutation SNP C C T TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 g.chr8:104452461C>T c.1504C>T c.(1504-1506)Cgc>Tgc p.R502C GBMLGG 8 104427337 104427338 + 5'Flank INS - - G TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 g.chr8:104427337_104427338insG GBMLGG 8 104452461 104452461 + Missense_Mutation SNP C C T TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 g.chr8:104452461C>T c.1504C>T c.(1504-1506)Cgc>Tgc p.R502C GBMLGG 8 104453788 104453788 + Missense_Mutation SNP A A C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:104453788A>C c.1648A>C c.(1648-1650)Aaa>Caa p.K550Q HNSC 8 104427338 104427338 + 5'Flank SNP G G A TCGA-WA-A7GZ-01A-11D-A34J-08 TCGA-WA-A7GZ-10A-01D-A34M-08 g.chr8:104427338G>A HNSC 8 104427657 104427657 + 5'Flank SNP G G A TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr8:104427657G>A HNSC 8 104432504 104432504 + Missense_Mutation SNP A A G TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 g.chr8:104432504A>G c.539A>G c.(538-540)tAt>tGt p.Y180C HNSC 8 104453792 104453792 + Missense_Mutation SNP C C G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 g.chr8:104453792C>G c.1652C>G c.(1651-1653)tCt>tGt p.S551C KICH 8 104427572 104427572 + 5'Flank SNP T T A TCGA-KN-8427-01A-11D-2310-10 TCGA-KN-8427-11A-01D-2311-10 g.chr8:104427572T>A KICH 8 104442840 104442840 + Splice_Site SNP A A G TCGA-KN-8436-01A-11D-2310-10 TCGA-KN-8436-11A-01D-2311-10 g.chr8:104442840A>G c.1081A>G c.(1081-1083)Aca>Gca p.T361A KIPAN 8 104427572 104427572 + 5'Flank SNP T T A TCGA-KN-8427-01A-11D-2310-10 TCGA-KN-8427-11A-01D-2311-10 g.chr8:104427572T>A KIPAN 8 104432551 104432551 + Missense_Mutation SNP G G T TCGA-P4-A5E8-01A-11D-A28G-10 TCGA-P4-A5E8-11A-12D-A28G-10 g.chr8:104432551G>T c.586G>T c.(586-588)Gct>Tct p.A196S KIPAN 8 104438314 104438314 + Missense_Mutation SNP A A G TCGA-BP-5170-01A-01D-1429-08 TCGA-BP-5170-11A-01D-1429-08 g.chr8:104438314A>G c.865A>G c.(865-867)Aaa>Gaa p.K289E KIPAN 8 104442840 104442840 + Splice_Site SNP A A G TCGA-KN-8436-01A-11D-2310-10 TCGA-KN-8436-11A-01D-2311-10 g.chr8:104442840A>G c.1081A>G c.(1081-1083)Aca>Gca p.T361A KIPAN 8 104444929 104444929 + Missense_Mutation SNP A A G TCGA-B4-5836-01A-11D-1669-08 TCGA-B4-5836-10A-01D-1669-08 g.chr8:104444929A>G c.1201A>G c.(1201-1203)Atg>Gtg p.M401V KIPAN 8 104444937 104444937 + Silent SNP T T C TCGA-AK-3431-01A-02D-1361-10 TCGA-AK-3431-10A-01D-1361-10 g.chr8:104444937T>C c.1209T>C c.(1207-1209)gcT>gcC p.A403A KIPAN 8 104444966 104444966 + Missense_Mutation SNP A A T TCGA-B0-5120-01A-01D-1421-08 TCGA-B0-5120-11A-01D-1421-08 g.chr8:104444966A>T c.1238A>T c.(1237-1239)tAt>tTt p.Y413F KIRC 8 104438314 104438314 + Missense_Mutation SNP A A G TCGA-BP-5170-01A-01D-1429-08 TCGA-BP-5170-11A-01D-1429-08 g.chr8:104438314A>G c.865A>G c.(865-867)Aaa>Gaa p.K289E KIRC 8 104444929 104444929 + Missense_Mutation SNP A A G TCGA-B4-5836-01A-11D-1669-08 TCGA-B4-5836-10A-01D-1669-08 g.chr8:104444929A>G c.1201A>G c.(1201-1203)Atg>Gtg p.M401V KIRC 8 104444937 104444937 + Silent SNP T T C TCGA-AK-3431-01A-02D-1361-10 TCGA-AK-3431-10A-01D-1361-10 g.chr8:104444937T>C c.1209T>C c.(1207-1209)gcT>gcC p.A403A KIRC 8 104444966 104444966 + Missense_Mutation SNP A A T TCGA-B0-5120-01A-01D-1421-08 TCGA-B0-5120-11A-01D-1421-08 g.chr8:104444966A>T c.1238A>T c.(1237-1239)tAt>tTt p.Y413F KIRP 8 104432551 104432551 + Missense_Mutation SNP G G T TCGA-P4-A5E8-01A-11D-A28G-10 TCGA-P4-A5E8-11A-12D-A28G-10 g.chr8:104432551G>T c.586G>T c.(586-588)Gct>Tct p.A196S LGG 8 104453788 104453788 + Missense_Mutation SNP A A C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:104453788A>C c.1648A>C c.(1648-1650)Aaa>Caa p.K550Q LIHC 8 104427489 104427489 + 5'Flank SNP C C T TCGA-DD-AAE2-01A-11D-A40R-10 TCGA-DD-AAE2-10A-01D-A40U-10 g.chr8:104427489C>T LIHC 8 104427710 104427710 + 5'Flank SNP T T C TCGA-YA-A8S7-01A-11D-A36X-10 TCGA-YA-A8S7-10A-01D-A370-10 g.chr8:104427710T>C LIHC 8 104447934 104447934 + Missense_Mutation SNP A A G TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr8:104447934A>G c.1322A>G c.(1321-1323)gAt>gGt p.D441G LUAD 8 104427284 104427284 + 5'UTR SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr8:104427284G>A LUAD 8 104427291 104427291 + 5'UTR SNP C C G TCGA-86-A456-01A-11D-A24D-08 TCGA-86-A456-10A-01D-A24F-08 g.chr8:104427291C>G LUAD 8 104427471 104427471 + 5'Flank SNP A A C TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr8:104427471A>C LUAD 8 104427488 104427488 + 5'Flank SNP C C T TCGA-55-8092-01A-11D-2238-08 TCGA-55-8092-10A-01D-2238-08 g.chr8:104427488C>T LUAD 8 104427550 104427550 + 5'Flank SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 g.chr8:104427550G>T LUAD 8 104433228 104433228 + Missense_Mutation SNP G G T TCGA-44-6144-01A-11D-1753-08 TCGA-44-6144-10A-01D-1753-08 g.chr8:104433228G>T c.752G>T c.(751-753)cGg>cTg p.R251L LUAD 8 104438329 104438329 + Missense_Mutation SNP G G T TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr8:104438329G>T c.880G>T c.(880-882)Ggc>Tgc p.G294C LUAD 8 104439440 104439440 + Missense_Mutation SNP G G T TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chr8:104439440G>T c.1040G>T c.(1039-1041)gGa>gTa p.G347V LUAD 8 104442853 104442853 + Missense_Mutation SNP G G A TCGA-75-6207-01A-11D-1753-08 TCGA-75-6207-10A-01D-1753-08 g.chr8:104442853G>A c.1094G>A c.(1093-1095)gGa>gAa p.G365E LUAD 8 104447974 104447974 + Silent SNP C C T TCGA-17-Z010-01A-01W-0746-08 TCGA-17-Z010-11A-01W-0746-08 g.chr8:104447974C>T c.1362C>T c.(1360-1362)ttC>ttT p.F454F LUAD 8 104452412 104452412 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 g.chr8:104452412G>T c.1455G>T c.(1453-1455)tgG>tgT p.W485C LUAD 8 104452493 104452493 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr8:104452493G>T c.1536G>T c.(1534-1536)ttG>ttT p.L512F LUAD 8 104453721 104453721 + Missense_Mutation SNP G G T TCGA-75-6206-01A-11D-1753-08 TCGA-75-6206-10A-01D-1753-08 g.chr8:104453721G>T c.1581G>T c.(1579-1581)caG>caT p.Q527H LUSC 8 104427350 104427350 + 5'Flank SNP G G C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 g.chr8:104427350G>C LUSC 8 104427542 104427542 + 5'Flank SNP A A T TCGA-66-2754-01A-01D-0983-08 TCGA-66-2754-11A-01D-0983-08 g.chr8:104427542A>T LUSC 8 104442907 104442907 + Missense_Mutation SNP C C A TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr8:104442907C>A c.1148C>A c.(1147-1149)cCt>cAt p.P383H PAAD 8 104432575 104432575 + Nonsense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr8:104432575C>T c.610C>T c.(610-612)Cga>Tga p.R204* PAAD 8 104453770 104453770 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr8:104453770C>T c.1630C>T c.(1630-1632)Cgt>Tgt p.R544C PRAD 8 104433218 104433218 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr8:104433218C>T c.742C>T c.(742-744)Cta>Tta p.L248L PRAD 8 104442877 104442877 + Missense_Mutation SNP T T C TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 g.chr8:104442877T>C c.1118T>C c.(1117-1119)aTa>aCa p.I373T READ 8 104432596 104432596 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:104432596C>A c.631C>A c.(631-633)Ctt>Att p.L211I READ 8 104433296 104433296 + Missense_Mutation SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:104433296A>G c.820A>G c.(820-822)Act>Gct p.T274A READ 8 104453843 104453843 + Missense_Mutation SNP G G A TCGA-AG-A026-01A-32W-A096-10 TCGA-AG-A026-10A-01W-A096-10 g.chr8:104453843G>A c.1703G>A c.(1702-1704)cGa>cAa p.R568Q SARC 8 104432637 104432637 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr8:104432637G>T c.672G>T c.(670-672)ttG>ttT p.L224F SKCM 8 104427482 104427482 + 5'Flank SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr8:104427482A>G SKCM 8 104427556 104427556 + 5'Flank SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 g.chr8:104427556C>T SKCM 8 104427557 104427557 + 5'Flank SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr8:104427557C>T SKCM 8 104427608 104427608 + 5'Flank SNP G G A TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr8:104427608G>A SKCM 8 104427664 104427664 + 5'Flank SNP G G A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 g.chr8:104427664G>A SKCM 8 104432603 104432603 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr8:104432603C>T c.638C>T c.(637-639)tCg>tTg p.S213L SKCM 8 104442916 104442916 + Splice_Site SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr8:104442916A>C c.1157A>C c.(1156-1158)aAg>aCg p.K386T SKCM 8 104447900 104447900 + Missense_Mutation SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr8:104447900C>T c.1288C>T c.(1288-1290)Cat>Tat p.H430Y

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 8 104427359 104427359 single base substitution A C missense_variant R47S 141A>C BLCA-CN 8 104427359 104427359 single base substitution A C upstream_gene_variant BLCA-CN 8 104447896 104447896 single base substitution G A exon_variant BLCA-CN 8 104447896 104447896 single base substitution G A missense_variant M428I 1284G>A BRCA-EU 8 104422088 104422088 single base substitution C T upstream_gene_variant BRCA-EU 8 104422240 104422240 single base substitution T A upstream_gene_variant BRCA-EU 8 104422682 104422682 single base substitution C T upstream_gene_variant BRCA-EU 8 104423185 104423185 single base substitution A G upstream_gene_variant BRCA-EU 8 104423500 104423500 single base substitution T C upstream_gene_variant BRCA-EU 8 104423910 104423910 single base substitution T C upstream_gene_variant BRCA-EU 8 104424500 104424500 single base substitution G A upstream_gene_variant BRCA-EU 8 104425056 104425056 single base substitution C T upstream_gene_variant BRCA-EU 8 104425190 104425190 single base substitution C G upstream_gene_variant BRCA-EU 8 104426486 104426486 single base substitution T C upstream_gene_variant BRCA-EU 8 104427572 104427572 single base substitution T A synonymous_variant T118T 354T>A BRCA-EU 8 104427572 104427572 single base substitution T A upstream_gene_variant BRCA-EU 8 104427572 104427572 single base substitution T C synonymous_variant T118T 354T>C BRCA-EU 8 104427572 104427572 single base substitution T C upstream_gene_variant BRCA-EU 8 104427854 104427854 single base substitution C G intron_variant BRCA-EU 8 104427899 104427899 single base substitution T C intron_variant BRCA-EU 8 104428056 104428056 single base substitution A C intron_variant BRCA-EU 8 104428879 104428879 single base substitution C T intron_variant BRCA-EU 8 104429955 104429955 single base substitution C G intron_variant BRCA-EU 8 104431204 104431204 single base substitution C T intron_variant BRCA-EU 8 104431976 104431976 single base substitution T C intron_variant BRCA-EU 8 104433413 104433413 single base substitution T C downstream_gene_variant BRCA-EU 8 104433413 104433413 single base substitution T C intron_variant BRCA-EU 8 104433641 104433641 single base substitution G C downstream_gene_variant BRCA-EU 8 104433641 104433641 single base substitution G C intron_variant BRCA-EU 8 104434183 104434183 single base substitution T G downstream_gene_variant BRCA-EU 8 104434183 104434183 single base substitution T G intron_variant BRCA-EU 8 104437341 104437341 single base substitution T C downstream_gene_variant BRCA-EU 8 104437341 104437341 single base substitution T C intron_variant BRCA-EU 8 104438564 104438564 single base substitution T A intron_variant BRCA-EU 8 104438565 104438565 single base substitution T A intron_variant BRCA-EU 8 104438682 104438682 single base substitution C A intron_variant BRCA-EU 8 104438707 104438707 single base substitution C G intron_variant BRCA-EU 8 104438777 104438777 single base substitution T C intron_variant BRCA-EU 8 104439162 104439162 single base substitution C T intron_variant BRCA-EU 8 104439487 104439487 deletion of <=200bp T - exon_variant BRCA-EU 8 104439487 104439487 deletion of <=200bp T - frameshift_variant F171 BRCA-EU 8 104439487 104439487 deletion of <=200bp T - frameshift_variant F207 BRCA-EU 8 104439487 104439487 deletion of <=200bp T - splice_region_variant BRCA-EU 8 104441065 104441065 single base substitution A T downstream_gene_variant BRCA-EU 8 104441065 104441065 single base substitution A T exon_variant BRCA-EU 8 104441065 104441065 single base substitution A T intron_variant BRCA-EU 8 104441261 104441261 single base substitution A G downstream_gene_variant BRCA-EU 8 104441261 104441261 single base substitution A G exon_variant BRCA-EU 8 104441261 104441261 single base substitution A G intron_variant BRCA-EU 8 104441621 104441621 single base substitution T A downstream_gene_variant BRCA-EU 8 104441621 104441621 single base substitution T A exon_variant BRCA-EU 8 104441621 104441621 single base substitution T A intron_variant BRCA-EU 8 104443172 104443172 single base substitution C T downstream_gene_variant BRCA-EU 8 104443172 104443172 single base substitution C T intron_variant BRCA-EU 8 104443866 104443866 single base substitution C T downstream_gene_variant BRCA-EU 8 104443866 104443866 single base substitution C T intron_variant BRCA-EU 8 104443971 104443971 single base substitution G T downstream_gene_variant BRCA-EU 8 104443971 104443971 single base substitution G T intron_variant BRCA-EU 8 104444297 104444297 single base substitution T G downstream_gene_variant BRCA-EU 8 104444297 104444297 single base substitution T G intron_variant BRCA-EU 8 104444353 104444353 single base substitution C T downstream_gene_variant BRCA-EU 8 104444353 104444353 single base substitution C T intron_variant BRCA-EU 8 104445351 104445351 single base substitution A G downstream_gene_variant BRCA-EU 8 104445351 104445351 single base substitution A G intron_variant BRCA-EU 8 104445445 104445445 single base substitution G T downstream_gene_variant BRCA-EU 8 104445445 104445445 single base substitution G T intron_variant BRCA-EU 8 104445900 104445900 single base substitution A G downstream_gene_variant BRCA-EU 8 104445900 104445900 single base substitution A G intron_variant BRCA-EU 8 104448510 104448510 deletion of <=200bp T - intron_variant BRCA-EU 8 104449407 104449407 deletion of <=200bp T - intron_variant BRCA-EU 8 104450865 104450865 single base substitution T C intron_variant BRCA-EU 8 104451184 104451184 single base substitution C T intron_variant BRCA-EU 8 104451877 104451877 single base substitution C G intron_variant BRCA-EU 8 104451894 104451894 single base substitution A G intron_variant BRCA-EU 8 104452637 104452637 single base substitution T C downstream_gene_variant BRCA-EU 8 104452637 104452637 single base substitution T C intron_variant BRCA-EU 8 104454686 104454686 single base substitution A G downstream_gene_variant BRCA-EU 8 104454686 104454686 single base substitution A G intron_variant BRCA-EU 8 104455696 104455696 single base substitution T C downstream_gene_variant BRCA-EU 8 104456522 104456522 single base substitution C T downstream_gene_variant BRCA-EU 8 104456761 104456761 single base substitution C G downstream_gene_variant BRCA-EU 8 104456861 104456861 single base substitution T C downstream_gene_variant BRCA-EU 8 104457299 104457299 single base substitution T C downstream_gene_variant BRCA-EU 8 104457900 104457900 single base substitution C G downstream_gene_variant BRCA-EU 8 104458229 104458229 single base substitution T C downstream_gene_variant BRCA-EU 8 104458592 104458592 single base substitution C A downstream_gene_variant BRCA-FR 8 104430355 104430355 single base substitution C A intron_variant BRCA-FR 8 104437764 104437764 single base substitution G C downstream_gene_variant BRCA-FR 8 104437764 104437764 single base substitution G C intron_variant BRCA-FR 8 104439162 104439162 single base substitution C T intron_variant BRCA-FR 8 104451184 104451184 single base substitution C T intron_variant BRCA-UK 8 104423845 104423845 single base substitution C G upstream_gene_variant BRCA-UK 8 104427686 104427686 single base substitution G T 5_prime_UTR_variant BRCA-UK 8 104427686 104427686 single base substitution G T exon_variant BRCA-UK 8 104427686 104427686 single base substitution G T missense_variant K156N 468G>T BRCA-UK 8 104428879 104428879 single base substitution C T intron_variant BRCA-UK 8 104445900 104445900 single base substitution A G downstream_gene_variant BRCA-UK 8 104445900 104445900 single base substitution A G intron_variant BRCA-US 8 104438284 104438284 single base substitution G C missense_variant V123L 367G>C BRCA-US 8 104438284 104438284 single base substitution G C missense_variant V279L 835G>C BRCA-US 8 104438284 104438284 single base substitution G C missense_variant V87L 259G>C BRCA-US 8 104438284 104438284 single base substitution G C splice_region_variant BRCA-US 8 104447988 104447988 single base substitution G A exon_variant BRCA-US 8 104447988 104447988 single base substitution G A missense_variant R459Q 1376G>A BRCA-US 8 104452383 104452383 single base substitution A G exon_variant BRCA-US 8 104452383 104452383 single base substitution A G missense_variant R476G 1426A>G BTCA-JP 8 104432630 104432630 single base substitution A G exon_variant BTCA-JP 8 104432630 104432630 single base substitution A G intron_variant BTCA-JP 8 104432630 104432630 single base substitution A G missense_variant N222S 665A>G BTCA-JP 8 104432630 104432630 single base substitution A G missense_variant N66S 197A>G BTCA-JP 8 104439487 104439487 deletion of <=200bp T - exon_variant BTCA-JP 8 104439487 104439487 deletion of <=200bp T - frameshift_variant F171 BTCA-JP 8 104439487 104439487 deletion of <=200bp T - frameshift_variant F207 BTCA-JP 8 104439487 104439487 deletion of <=200bp T - splice_region_variant BTCA-JP 8 104454024 104454024 single base substitution G T downstream_gene_variant BTCA-JP 8 104454024 104454024 single base substitution G T intron_variant BTCA-JP 8 104454025 104454025 single base substitution A G downstream_gene_variant BTCA-JP 8 104454025 104454025 single base substitution A G intron_variant CESC-US 8 104427124 104427124 single base substitution C T 5_prime_UTR_variant CESC-US 8 104427124 104427124 single base substitution C T upstream_gene_variant CESC-US 8 104427430 104427430 single base substitution C G missense_variant S71W 212C>G CESC-US 8 104427430 104427430 single base substitution C G upstream_gene_variant CESC-US 8 104452417 104452417 single base substitution C G exon_variant CESC-US 8 104452417 104452417 single base substitution C G missense_variant S487C 1460C>G CLLE-ES 8 104453437 104453437 single base substitution C G downstream_gene_variant CLLE-ES 8 104453437 104453437 single base substitution C G intron_variant COAD-US 8 104427083 104427083 single base substitution G A 5_prime_UTR_variant COAD-US 8 104427083 104427083 single base substitution G A upstream_gene_variant COAD-US 8 104427123 104427123 single base substitution T C 5_prime_UTR_variant COAD-US 8 104427123 104427123 single base substitution T C upstream_gene_variant COAD-US 8 104427266 104427266 single base substitution C T synonymous_variant T16T 48C>T COAD-US 8 104427266 104427266 single base substitution C T upstream_gene_variant COAD-US 8 104427493 104427493 deletion of <=200bp C - frameshift_variant A92 COAD-US 8 104427493 104427493 deletion of <=200bp C - upstream_gene_variant COAD-US 8 104427578 104427578 single base substitution T C synonymous_variant S120S 360T>C COAD-US 8 104427578 104427578 single base substitution T C upstream_gene_variant COAD-US 8 104432545 104432545 single base substitution A G exon_variant COAD-US 8 104432545 104432545 single base substitution A G intron_variant COAD-US 8 104432545 104432545 single base substitution A G missense_variant I194V 580A>G COAD-US 8 104432545 104432545 single base substitution A G missense_variant I38V 112A>G COAD-US 8 104432631 104432631 single base substitution T C exon_variant COAD-US 8 104432631 104432631 single base substitution T C intron_variant COAD-US 8 104432631 104432631 single base substitution T C synonymous_variant N222N 666T>C COAD-US 8 104432631 104432631 single base substitution T C synonymous_variant N66N 198T>C COCA-CN 8 104427942 104427942 single base substitution T A intron_variant COCA-CN 8 104427943 104427943 single base substitution T A intron_variant COCA-CN 8 104434652 104434652 single base substitution G A downstream_gene_variant COCA-CN 8 104434652 104434652 single base substitution G A intron_variant COCA-CN 8 104442846 104442846 single base substitution C A downstream_gene_variant COCA-CN 8 104442846 104442846 single base substitution C A exon_variant COCA-CN 8 104442846 104442846 single base substitution C A missense_variant L363I 1087C>A COCA-CN 8 104445031 104445031 single base substitution C T downstream_gene_variant COCA-CN 8 104445031 104445031 single base substitution C T intron_variant COCA-CN 8 104448012 104448012 single base substitution G A exon_variant COCA-CN 8 104448012 104448012 single base substitution G A missense_variant R467Q 1400G>A COCA-CN 8 104453732 104453732 single base substitution A G downstream_gene_variant COCA-CN 8 104453732 104453732 single base substitution A G exon_variant COCA-CN 8 104453732 104453732 single base substitution A G missense_variant E531G 1592A>G COCA-CN 8 104454002 104454002 single base substitution C T downstream_gene_variant COCA-CN 8 104454002 104454002 single base substitution C T intron_variant COCA-CN 8 104455004 104455004 single base substitution T G downstream_gene_variant COCA-CN 8 104455004 104455004 single base substitution T G intron_variant ESAD-UK 8 104427572 104427572 single base substitution T C synonymous_variant T118T 354T>C ESAD-UK 8 104427572 104427572 single base substitution T C upstream_gene_variant ESAD-UK 8 104427572 104427572 single base substitution T G synonymous_variant T118T 354T>G ESAD-UK 8 104427572 104427572 single base substitution T G upstream_gene_variant ESAD-UK 8 104428504 104428504 single base substitution A C intron_variant ESAD-UK 8 104429046 104429046 single base substitution T A intron_variant ESAD-UK 8 104429519 104429519 single base substitution A C intron_variant ESAD-UK 8 104430577 104430577 single base substitution G A intron_variant ESAD-UK 8 104430698 104430698 single base substitution C T intron_variant ESAD-UK 8 104431355 104431355 single base substitution G A intron_variant ESAD-UK 8 104435625 104435625 single base substitution C T downstream_gene_variant ESAD-UK 8 104435625 104435625 single base substitution C T intron_variant ESAD-UK 8 104436534 104436534 single base substitution C T downstream_gene_variant ESAD-UK 8 104436534 104436534 single base substitution C T intron_variant ESAD-UK 8 104436655 104436655 single base substitution C T downstream_gene_variant ESAD-UK 8 104436655 104436655 single base substitution C T intron_variant ESAD-UK 8 104439147 104439147 single base substitution T G intron_variant ESAD-UK 8 104439197 104439197 single base substitution T A intron_variant ESAD-UK 8 104439570 104439570 single base substitution C A 3_prime_UTR_variant ESAD-UK 8 104439570 104439570 single base substitution C A exon_variant ESAD-UK 8 104439570 104439570 single base substitution C A intron_variant ESAD-UK 8 104439837 104439837 single base substitution A G 3_prime_UTR_variant ESAD-UK 8 104439837 104439837 single base substitution A G downstream_gene_variant ESAD-UK 8 104439837 104439837 single base substitution A G exon_variant ESAD-UK 8 104439837 104439837 single base substitution A G intron_variant ESAD-UK 8 104440009 104440009 single base substitution C A 3_prime_UTR_variant ESAD-UK 8 104440009 104440009 single base substitution C A downstream_gene_variant ESAD-UK 8 104440009 104440009 single base substitution C A exon_variant ESAD-UK 8 104440009 104440009 single base substitution C A intron_variant ESAD-UK 8 104442430 104442430 single base substitution G A downstream_gene_variant ESAD-UK 8 104442430 104442430 single base substitution G A exon_variant ESAD-UK 8 104442430 104442430 single base substitution G A intron_variant ESAD-UK 8 104442757 104442757 single base substitution C A downstream_gene_variant ESAD-UK 8 104442757 104442757 single base substitution C A exon_variant ESAD-UK 8 104442757 104442757 single base substitution C A intron_variant ESAD-UK 8 104443283 104443283 single base substitution G A downstream_gene_variant ESAD-UK 8 104443283 104443283 single base substitution G A intron_variant ESAD-UK 8 104445720 104445720 insertion of <=200bp - T downstream_gene_variant ESAD-UK 8 104445720 104445720 insertion of <=200bp - T intron_variant ESAD-UK 8 104446993 104446993 single base substitution T A intron_variant ESAD-UK 8 104447526 104447526 single base substitution A T intron_variant ESAD-UK 8 104450289 104450289 single base substitution G T intron_variant ESAD-UK 8 104452571 104452571 single base substitution T A downstream_gene_variant ESAD-UK 8 104452571 104452571 single base substitution T A intron_variant ESAD-UK 8 104452833 104452833 single base substitution G A downstream_gene_variant ESAD-UK 8 104452833 104452833 single base substitution G A intron_variant ESAD-UK 8 104453270 104453270 single base substitution A C downstream_gene_variant ESAD-UK 8 104453270 104453270 single base substitution A C intron_variant ESAD-UK 8 104453545 104453545 single base substitution A G downstream_gene_variant ESAD-UK 8 104453545 104453545 single base substitution A G intron_variant ESAD-UK 8 104457685 104457685 single base substitution T A downstream_gene_variant ESAD-UK 8 104458492 104458492 single base substitution A C downstream_gene_variant ESAD-UK 8 104459387 104459387 single base substitution T A downstream_gene_variant ESAD-UK 8 104460381 104460381 single base substitution T G downstream_gene_variant ESCA-CN 8 104432674 104432674 single base substitution G C exon_variant ESCA-CN 8 104432674 104432674 single base substitution G C intron_variant ESCA-CN 8 104432674 104432674 single base substitution G C missense_variant G237R 709G>C ESCA-CN 8 104432674 104432674 single base substitution G C missense_variant G81R 241G>C GBM-US 8 104427337 104427337 insertion of <=200bp - G frameshift_variant E40G? GBM-US 8 104427337 104427337 insertion of <=200bp - G upstream_gene_variant GBM-US 8 104452461 104452461 single base substitution C T exon_variant GBM-US 8 104452461 104452461 single base substitution C T missense_variant R502C 1504C>T KIRC-US 8 104438314 104438314 single base substitution A G exon_variant KIRC-US 8 104438314 104438314 single base substitution A G missense_variant K133E 397A>G KIRC-US 8 104438314 104438314 single base substitution A G missense_variant K289E 865A>G KIRC-US 8 104438314 104438314 single base substitution A G missense_variant K97E 289A>G KIRC-US 8 104444937 104444937 single base substitution T C downstream_gene_variant KIRC-US 8 104444937 104444937 single base substitution T C exon_variant KIRC-US 8 104444937 104444937 single base substitution T C synonymous_variant A403A 1209T>C KIRC-US 8 104444966 104444966 single base substitution A T downstream_gene_variant KIRC-US 8 104444966 104444966 single base substitution A T exon_variant KIRC-US 8 104444966 104444966 single base substitution A T missense_variant Y413F 1238A>T KIRP-US 8 104432551 104432551 single base substitution G T exon_variant KIRP-US 8 104432551 104432551 single base substitution G T intron_variant KIRP-US 8 104432551 104432551 single base substitution G T missense_variant A196S 586G>T KIRP-US 8 104432551 104432551 single base substitution G T missense_variant A40S 118G>T KIRP-US 8 104432588 104432588 single base substitution A C exon_variant KIRP-US 8 104432588 104432588 single base substitution A C intron_variant KIRP-US 8 104432588 104432588 single base substitution A C missense_variant K208T 623A>C KIRP-US 8 104432588 104432588 single base substitution A C missense_variant K52T 155A>C KIRP-US 8 104444950 104444950 single base substitution G T downstream_gene_variant KIRP-US 8 104444950 104444950 single base substitution G T exon_variant KIRP-US 8 104444950 104444950 single base substitution G T missense_variant A408S 1222G>T LAML-KR 8 104454002 104454002 single base substitution C T downstream_gene_variant LAML-KR 8 104454002 104454002 single base substitution C T intron_variant LICA-FR 8 104422624 104422624 single base substitution C T upstream_gene_variant LICA-FR 8 104423422 104423422 single base substitution G T upstream_gene_variant LICA-FR 8 104428466 104428466 single base substitution A G intron_variant LICA-FR 8 104431363 104431363 single base substitution C T intron_variant LICA-FR 8 104438374 104438374 single base substitution G A splice_donor_variant LICA-FR 8 104439440 104439440 single base substitution G T exon_variant LICA-FR 8 104439440 104439440 single base substitution G T missense_variant G155V 464G>T LICA-FR 8 104439440 104439440 single base substitution G T missense_variant G191V 572G>T LICA-FR 8 104439440 104439440 single base substitution G T missense_variant G347V 1040G>T LICA-FR 8 104448309 104448309 deletion of <=200bp A - intron_variant LICA-FR 8 104457156 104457156 single base substitution T C downstream_gene_variant LIHC-US 8 104427069 104427069 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LIHC-US 8 104427069 104427069 single base substitution C T upstream_gene_variant LINC-JP 8 104426268 104426268 single base substitution C A upstream_gene_variant LINC-JP 8 104427293 104427293 single base substitution C G synonymous_variant L25L 75C>G LINC-JP 8 104427293 104427293 single base substitution C G upstream_gene_variant LINC-JP 8 104433389 104433389 single base substitution T A downstream_gene_variant LINC-JP 8 104433389 104433389 single base substitution T A intron_variant LINC-JP 8 104434541 104434541 single base substitution G A downstream_gene_variant LINC-JP 8 104434541 104434541 single base substitution G A intron_variant LINC-JP 8 104439487 104439487 deletion of <=200bp T - exon_variant LINC-JP 8 104439487 104439487 deletion of <=200bp T - frameshift_variant F171 LINC-JP 8 104439487 104439487 deletion of <=200bp T - frameshift_variant F207 LINC-JP 8 104439487 104439487 deletion of <=200bp T - splice_region_variant LINC-JP 8 104453899 104453899 single base substitution C A downstream_gene_variant LINC-JP 8 104453899 104453899 single base substitution C A intron_variant LINC-JP 8 104455151 104455151 single base substitution T G 3_prime_UTR_variant LINC-JP 8 104455151 104455151 single base substitution T G downstream_gene_variant LINC-JP 8 104455151 104455151 single base substitution T G exon_variant LINC-JP 8 104455163 104455163 single base substitution A T 3_prime_UTR_variant LINC-JP 8 104455163 104455163 single base substitution A T downstream_gene_variant LINC-JP 8 104455163 104455163 single base substitution A T exon_variant LINC-JP 8 104455206 104455206 single base substitution T G 3_prime_UTR_variant LINC-JP 8 104455206 104455206 single base substitution T G downstream_gene_variant LINC-JP 8 104455206 104455206 single base substitution T G exon_variant LINC-JP 8 104455310 104455310 single base substitution A G 3_prime_UTR_variant LINC-JP 8 104455310 104455310 single base substitution A G downstream_gene_variant LINC-JP 8 104455310 104455310 single base substitution A G exon_variant LIRI-JP 8 104423255 104423255 single base substitution T C upstream_gene_variant LIRI-JP 8 104423653 104423653 single base substitution C G upstream_gene_variant LIRI-JP 8 104424087 104424087 single base substitution T C upstream_gene_variant LIRI-JP 8 104424224 104424224 single base substitution T C upstream_gene_variant LIRI-JP 8 104424513 104424513 single base substitution T C upstream_gene_variant LIRI-JP 8 104425098 104425098 single base substitution T C upstream_gene_variant LIRI-JP 8 104425197 104425197 single base substitution T G upstream_gene_variant LIRI-JP 8 104425245 104425245 single base substitution T C upstream_gene_variant LIRI-JP 8 104425487 104425487 single base substitution C T upstream_gene_variant LIRI-JP 8 104425584 104425584 insertion of <=200bp - A upstream_gene_variant LIRI-JP 8 104425611 104425611 single base substitution G A upstream_gene_variant LIRI-JP 8 104432643 104432643 single base substitution G A exon_variant LIRI-JP 8 104432643 104432643 single base substitution G A intron_variant LIRI-JP 8 104432643 104432643 single base substitution G A synonymous_variant K226K 678G>A LIRI-JP 8 104432643 104432643 single base substitution G A synonymous_variant K70K 210G>A LIRI-JP 8 104432838 104432838 deletion of <=200bp T - 3_prime_UTR_variant LIRI-JP 8 104432838 104432838 deletion of <=200bp T - intron_variant LIRI-JP 8 104434208 104434208 single base substitution C T downstream_gene_variant LIRI-JP 8 104434208 104434208 single base substitution C T intron_variant LIRI-JP 8 104434306 104434306 single base substitution C T downstream_gene_variant LIRI-JP 8 104434306 104434306 single base substitution C T intron_variant LIRI-JP 8 104434311 104434311 single base substitution T G downstream_gene_variant LIRI-JP 8 104434311 104434311 single base substitution T G intron_variant LIRI-JP 8 104435498 104435498 single base substitution C T downstream_gene_variant LIRI-JP 8 104435498 104435498 single base substitution C T intron_variant LIRI-JP 8 104435659 104435659 single base substitution T C downstream_gene_variant LIRI-JP 8 104435659 104435659 single base substitution T C intron_variant LIRI-JP 8 104436778 104436778 single base substitution T C downstream_gene_variant LIRI-JP 8 104436778 104436778 single base substitution T C intron_variant LIRI-JP 8 104437558 104437558 single base substitution C T downstream_gene_variant LIRI-JP 8 104437558 104437558 single base substitution C T intron_variant LIRI-JP 8 104440666 104440666 single base substitution C A 3_prime_UTR_variant LIRI-JP 8 104440666 104440666 single base substitution C A downstream_gene_variant LIRI-JP 8 104440666 104440666 single base substitution C A exon_variant LIRI-JP 8 104440666 104440666 single base substitution C A intron_variant LIRI-JP 8 104444616 104444616 single base substitution T C downstream_gene_variant LIRI-JP 8 104444616 104444616 single base substitution T C intron_variant LIRI-JP 8 104445335 104445335 single base substitution G A downstream_gene_variant LIRI-JP 8 104445335 104445335 single base substitution G A intron_variant LIRI-JP 8 104447314 104447314 single base substitution A G intron_variant LIRI-JP 8 104447434 104447434 single base substitution T C intron_variant LIRI-JP 8 104447540 104447540 single base substitution T C intron_variant LIRI-JP 8 104448971 104448971 single base substitution A G intron_variant LIRI-JP 8 104449398 104449398 single base substitution T C intron_variant LIRI-JP 8 104449510 104449510 single base substitution A G intron_variant LIRI-JP 8 104450174 104450174 single base substitution C A intron_variant LIRI-JP 8 104453054 104453054 single base substitution A C downstream_gene_variant LIRI-JP 8 104453054 104453054 single base substitution A C intron_variant LIRI-JP 8 104454050 104454050 single base substitution G A downstream_gene_variant LIRI-JP 8 104454050 104454050 single base substitution G A intron_variant LIRI-JP 8 104454428 104454428 single base substitution A G downstream_gene_variant LIRI-JP 8 104454428 104454428 single base substitution A G intron_variant LIRI-JP 8 104455149 104455149 single base substitution A G 3_prime_UTR_variant LIRI-JP 8 104455149 104455149 single base substitution A G downstream_gene_variant LIRI-JP 8 104455149 104455149 single base substitution A G exon_variant LIRI-JP 8 104455750 104455750 single base substitution T C downstream_gene_variant LIRI-JP 8 104455834 104455834 single base substitution G A downstream_gene_variant LIRI-JP 8 104456088 104456088 single base substitution A G downstream_gene_variant LIRI-JP 8 104457770 104457770 single base substitution T G downstream_gene_variant LIRI-JP 8 104459071 104459071 single base substitution A G downstream_gene_variant LUSC-KR 8 104425170 104425170 single base substitution T C upstream_gene_variant LUSC-KR 8 104433891 104433891 single base substitution G A downstream_gene_variant LUSC-KR 8 104433891 104433891 single base substitution G A intron_variant LUSC-KR 8 104434415 104434415 single base substitution G T downstream_gene_variant LUSC-KR 8 104434415 104434415 single base substitution G T intron_variant LUSC-KR 8 104445763 104445763 single base substitution G T downstream_gene_variant LUSC-KR 8 104445763 104445763 single base substitution G T intron_variant LUSC-KR 8 104446994 104446994 single base substitution C G intron_variant LUSC-KR 8 104447175 104447175 single base substitution C G intron_variant LUSC-KR 8 104448516 104448516 single base substitution A T intron_variant LUSC-KR 8 104449153 104449153 single base substitution A G intron_variant LUSC-KR 8 104451121 104451121 single base substitution T C intron_variant LUSC-KR 8 104452011 104452011 single base substitution A C intron_variant LUSC-KR 8 104453865 104453865 single base substitution G A downstream_gene_variant LUSC-KR 8 104453865 104453865 single base substitution G A intron_variant LUSC-KR 8 104454946 104454946 single base substitution G A downstream_gene_variant LUSC-KR 8 104454946 104454946 single base substitution G A intron_variant LUSC-KR 8 104456189 104456189 single base substitution C T downstream_gene_variant LUSC-KR 8 104457999 104457999 single base substitution A C downstream_gene_variant LUSC-KR 8 104458003 104458003 single base substitution G T downstream_gene_variant LUSC-KR 8 104458712 104458712 single base substitution C G downstream_gene_variant LUSC-US 8 104427350 104427350 single base substitution G C synonymous_variant T44T 132G>C LUSC-US 8 104427350 104427350 single base substitution G C upstream_gene_variant LUSC-US 8 104427542 104427542 single base substitution A T synonymous_variant P108P 324A>T LUSC-US 8 104427542 104427542 single base substitution A T upstream_gene_variant LUSC-US 8 104442907 104442907 single base substitution C A downstream_gene_variant LUSC-US 8 104442907 104442907 single base substitution C A exon_variant LUSC-US 8 104442907 104442907 single base substitution C A missense_variant P383H 1148C>A MALY-DE 8 104422515 104422515 single base substitution C T upstream_gene_variant MALY-DE 8 104425471 104425471 single base substitution T G upstream_gene_variant MALY-DE 8 104430492 104430492 single base substitution A G intron_variant MALY-DE 8 104437390 104437390 single base substitution T C downstream_gene_variant MALY-DE 8 104437390 104437390 single base substitution T C intron_variant MELA-AU 8 104424062 104424062 deletion of <=200bp A - upstream_gene_variant MELA-AU 8 104426506 104426506 single base substitution T A upstream_gene_variant MELA-AU 8 104426566 104426566 single base substitution C T upstream_gene_variant MELA-AU 8 104426742 104426743 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 8 104426941 104426941 single base substitution G A upstream_gene_variant MELA-AU 8 104427663 104427663 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 8 104427663 104427663 single base substitution A T exon_variant MELA-AU 8 104427663 104427663 single base substitution A T stop_gained R149* 445A>T MELA-AU 8 104427686 104427686 single base substitution G A 5_prime_UTR_variant MELA-AU 8 104427686 104427686 single base substitution G A exon_variant MELA-AU 8 104427686 104427686 single base substitution G A synonymous_variant K156K 468G>A MELA-AU 8 104428206 104428206 single base substitution C T intron_variant MELA-AU 8 104429114 104429114 single base substitution G A intron_variant MELA-AU 8 104430096 104430096 single base substitution C T intron_variant MELA-AU 8 104430303 104430303 single base substitution C T intron_variant MELA-AU 8 104430864 104430864 single base substitution G A intron_variant MELA-AU 8 104431338 104431338 insertion of <=200bp - A intron_variant MELA-AU 8 104431559 104431559 single base substitution C T intron_variant MELA-AU 8 104432971 104432971 single base substitution C T downstream_gene_variant MELA-AU 8 104432971 104432971 single base substitution C T intron_variant MELA-AU 8 104433353 104433353 single base substitution G A downstream_gene_variant MELA-AU 8 104433353 104433353 single base substitution G A intron_variant MELA-AU 8 104433557 104433557 single base substitution G A downstream_gene_variant MELA-AU 8 104433557 104433557 single base substitution G A intron_variant MELA-AU 8 104433785 104433785 single base substitution C T downstream_gene_variant MELA-AU 8 104433785 104433785 single base substitution C T intron_variant MELA-AU 8 104434003 104434003 single base substitution C T downstream_gene_variant MELA-AU 8 104434003 104434003 single base substitution C T intron_variant MELA-AU 8 104434673 104434673 single base substitution C T downstream_gene_variant MELA-AU 8 104434673 104434673 single base substitution C T intron_variant MELA-AU 8 104434743 104434743 single base substitution C T downstream_gene_variant MELA-AU 8 104434743 104434743 single base substitution C T intron_variant MELA-AU 8 104434819 104434819 single base substitution G A downstream_gene_variant MELA-AU 8 104434819 104434819 single base substitution G A intron_variant MELA-AU 8 104435300 104435300 single base substitution G A downstream_gene_variant MELA-AU 8 104435300 104435300 single base substitution G A intron_variant MELA-AU 8 104435568 104435568 insertion of <=200bp - AC downstream_gene_variant MELA-AU 8 104435568 104435568 insertion of <=200bp - AC intron_variant MELA-AU 8 104436293 104436293 single base substitution T C downstream_gene_variant MELA-AU 8 104436293 104436293 single base substitution T C intron_variant MELA-AU 8 104436736 104436736 single base substitution C T downstream_gene_variant MELA-AU 8 104436736 104436736 single base substitution C T intron_variant MELA-AU 8 104436794 104436794 single base substitution C T downstream_gene_variant MELA-AU 8 104436794 104436794 single base substitution C T intron_variant MELA-AU 8 104436899 104436899 single base substitution T C downstream_gene_variant MELA-AU 8 104436899 104436899 single base substitution T C intron_variant MELA-AU 8 104437060 104437060 single base substitution C T downstream_gene_variant MELA-AU 8 104437060 104437060 single base substitution C T intron_variant MELA-AU 8 104437304 104437304 single base substitution C T downstream_gene_variant MELA-AU 8 104437304 104437304 single base substitution C T intron_variant MELA-AU 8 104437348 104437348 single base substitution C T downstream_gene_variant MELA-AU 8 104437348 104437348 single base substitution C T intron_variant MELA-AU 8 104437496 104437496 single base substitution C T downstream_gene_variant MELA-AU 8 104437496 104437496 single base substitution C T intron_variant MELA-AU 8 104438741 104438741 single base substitution T G intron_variant MELA-AU 8 104439570 104439570 single base substitution C T 3_prime_UTR_variant MELA-AU 8 104439570 104439570 single base substitution C T exon_variant MELA-AU 8 104439570 104439570 single base substitution C T intron_variant MELA-AU 8 104439609 104439609 single base substitution C T 3_prime_UTR_variant MELA-AU 8 104439609 104439609 single base substitution C T exon_variant MELA-AU 8 104439609 104439609 single base substitution C T intron_variant MELA-AU 8 104439719 104439719 single base substitution C T 3_prime_UTR_variant MELA-AU 8 104439719 104439719 single base substitution C T downstream_gene_variant MELA-AU 8 104439719 104439719 single base substitution C T exon_variant MELA-AU 8 104439719 104439719 single base substitution C T intron_variant MELA-AU 8 104439800 104439800 single base substitution T C 3_prime_UTR_variant MELA-AU 8 104439800 104439800 single base substitution T C downstream_gene_variant MELA-AU 8 104439800 104439800 single base substitution T C exon_variant MELA-AU 8 104439800 104439800 single base substitution T C intron_variant MELA-AU 8 104440009 104440009 single base substitution C T 3_prime_UTR_variant MELA-AU 8 104440009 104440009 single base substitution C T downstream_gene_variant MELA-AU 8 104440009 104440009 single base substitution C T exon_variant MELA-AU 8 104440009 104440009 single base substitution C T intron_variant MELA-AU 8 104440123 104440123 single base substitution C T 3_prime_UTR_variant MELA-AU 8 104440123 104440123 single base substitution C T downstream_gene_variant MELA-AU 8 104440123 104440123 single base substitution C T exon_variant MELA-AU 8 104440123 104440123 single base substitution C T intron_variant MELA-AU 8 104440458 104440459 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 8 104440458 104440459 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 104440458 104440459 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 8 104440458 104440459 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 104440531 104440531 single base substitution C T 3_prime_UTR_variant MELA-AU 8 104440531 104440531 single base substitution C T downstream_gene_variant MELA-AU 8 104440531 104440531 single base substitution C T exon_variant MELA-AU 8 104440531 104440531 single base substitution C T intron_variant MELA-AU 8 104440705 104440705 single base substitution C T 3_prime_UTR_variant MELA-AU 8 104440705 104440705 single base substitution C T downstream_gene_variant MELA-AU 8 104440705 104440705 single base substitution C T exon_variant MELA-AU 8 104440705 104440705 single base substitution C T intron_variant MELA-AU 8 104441055 104441055 single base substitution C T downstream_gene_variant MELA-AU 8 104441055 104441055 single base substitution C T exon_variant MELA-AU 8 104441055 104441055 single base substitution C T intron_variant MELA-AU 8 104441320 104441320 single base substitution C T downstream_gene_variant MELA-AU 8 104441320 104441320 single base substitution C T exon_variant MELA-AU 8 104441320 104441320 single base substitution C T intron_variant MELA-AU 8 104442050 104442050 single base substitution C T downstream_gene_variant MELA-AU 8 104442050 104442050 single base substitution C T exon_variant MELA-AU 8 104442050 104442050 single base substitution C T intron_variant MELA-AU 8 104442111 104442111 single base substitution C T downstream_gene_variant MELA-AU 8 104442111 104442111 single base substitution C T exon_variant MELA-AU 8 104442111 104442111 single base substitution C T intron_variant MELA-AU 8 104442726 104442726 single base substitution G A downstream_gene_variant MELA-AU 8 104442726 104442726 single base substitution G A exon_variant MELA-AU 8 104442726 104442726 single base substitution G A intron_variant MELA-AU 8 104443190 104443190 single base substitution T C downstream_gene_variant MELA-AU 8 104443190 104443190 single base substitution T C intron_variant MELA-AU 8 104443272 104443272 single base substitution C T downstream_gene_variant MELA-AU 8 104443272 104443272 single base substitution C T intron_variant MELA-AU 8 104443399 104443399 single base substitution C T downstream_gene_variant MELA-AU 8 104443399 104443399 single base substitution C T intron_variant MELA-AU 8 104443468 104443468 single base substitution A G downstream_gene_variant MELA-AU 8 104443468 104443468 single base substitution A G intron_variant MELA-AU 8 104443682 104443682 single base substitution C T downstream_gene_variant MELA-AU 8 104443682 104443682 single base substitution C T intron_variant MELA-AU 8 104444042 104444042 single base substitution C T downstream_gene_variant MELA-AU 8 104444042 104444042 single base substitution C T intron_variant MELA-AU 8 104444091 104444091 single base substitution C T downstream_gene_variant MELA-AU 8 104444091 104444091 single base substitution C T intron_variant MELA-AU 8 104444866 104444866 single base substitution C T downstream_gene_variant MELA-AU 8 104444866 104444866 single base substitution C T intron_variant MELA-AU 8 104445113 104445113 single base substitution C T downstream_gene_variant MELA-AU 8 104445113 104445113 single base substitution C T intron_variant MELA-AU 8 104445292 104445292 single base substitution T C downstream_gene_variant MELA-AU 8 104445292 104445292 single base substitution T C intron_variant MELA-AU 8 104445340 104445340 single base substitution C T downstream_gene_variant MELA-AU 8 104445340 104445340 single base substitution C T intron_variant MELA-AU 8 104445342 104445342 single base substitution T A downstream_gene_variant MELA-AU 8 104445342 104445342 single base substitution T A intron_variant MELA-AU 8 104445404 104445404 single base substitution C T downstream_gene_variant MELA-AU 8 104445404 104445404 single base substitution C T intron_variant MELA-AU 8 104446283 104446283 single base substitution C T intron_variant MELA-AU 8 104446348 104446348 single base substitution C T intron_variant MELA-AU 8 104446533 104446533 single base substitution C T intron_variant MELA-AU 8 104448423 104448423 single base substitution C T intron_variant MELA-AU 8 104448529 104448529 single base substitution C T intron_variant MELA-AU 8 104449207 104449207 single base substitution C T intron_variant MELA-AU 8 104449364 104449364 single base substitution T G intron_variant MELA-AU 8 104449871 104449871 single base substitution C T intron_variant MELA-AU 8 104450173 104450173 single base substitution C T intron_variant MELA-AU 8 104450195 104450195 single base substitution C T intron_variant MELA-AU 8 104450416 104450417 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 104450731 104450731 single base substitution C T intron_variant MELA-AU 8 104450809 104450809 single base substitution C T intron_variant MELA-AU 8 104451285 104451285 single base substitution G A intron_variant MELA-AU 8 104451571 104451571 single base substitution C T intron_variant MELA-AU 8 104452331 104452331 single base substitution C T intron_variant MELA-AU 8 104452886 104452886 single base substitution C T downstream_gene_variant MELA-AU 8 104452886 104452886 single base substitution C T intron_variant MELA-AU 8 104453324 104453324 single base substitution A G downstream_gene_variant MELA-AU 8 104453324 104453324 single base substitution A G intron_variant MELA-AU 8 104454317 104454317 single base substitution C T downstream_gene_variant MELA-AU 8 104454317 104454317 single base substitution C T intron_variant MELA-AU 8 104454318 104454318 single base substitution C T downstream_gene_variant MELA-AU 8 104454318 104454318 single base substitution C T intron_variant MELA-AU 8 104455281 104455281 single base substitution T C 3_prime_UTR_variant MELA-AU 8 104455281 104455281 single base substitution T C downstream_gene_variant MELA-AU 8 104455281 104455281 single base substitution T C exon_variant MELA-AU 8 104455300 104455300 single base substitution C T 3_prime_UTR_variant MELA-AU 8 104455300 104455300 single base substitution C T downstream_gene_variant MELA-AU 8 104455300 104455300 single base substitution C T exon_variant MELA-AU 8 104455666 104455666 single base substitution C T 3_prime_UTR_variant MELA-AU 8 104455666 104455666 single base substitution C T downstream_gene_variant MELA-AU 8 104455666 104455666 single base substitution C T exon_variant MELA-AU 8 104455946 104455946 single base substitution C T downstream_gene_variant MELA-AU 8 104456545 104456545 single base substitution C T downstream_gene_variant MELA-AU 8 104456705 104456705 single base substitution C T downstream_gene_variant MELA-AU 8 104456749 104456749 single base substitution C A downstream_gene_variant MELA-AU 8 104457050 104457050 single base substitution G A downstream_gene_variant MELA-AU 8 104457541 104457541 single base substitution C T downstream_gene_variant MELA-AU 8 104458006 104458006 single base substitution A G downstream_gene_variant MELA-AU 8 104458692 104458692 single base substitution A G downstream_gene_variant MELA-AU 8 104458719 104458719 single base substitution C T downstream_gene_variant MELA-AU 8 104458757 104458757 single base substitution C T downstream_gene_variant MELA-AU 8 104458865 104458865 single base substitution C T downstream_gene_variant MELA-AU 8 104459310 104459310 single base substitution G A downstream_gene_variant MELA-AU 8 104459565 104459565 single base substitution C T downstream_gene_variant MELA-AU 8 104459582 104459582 single base substitution C T downstream_gene_variant MELA-AU 8 104459771 104459771 single base substitution A T downstream_gene_variant MELA-AU 8 104460338 104460338 single base substitution G A downstream_gene_variant MELA-AU 8 104460525 104460525 single base substitution C T downstream_gene_variant ORCA-IN 8 104422565 104422565 single base substitution C T upstream_gene_variant ORCA-IN 8 104425747 104425747 single base substitution C G upstream_gene_variant ORCA-IN 8 104440000 104440000 single base substitution C A 3_prime_UTR_variant ORCA-IN 8 104440000 104440000 single base substitution C A downstream_gene_variant ORCA-IN 8 104440000 104440000 single base substitution C A exon_variant ORCA-IN 8 104440000 104440000 single base substitution C A intron_variant ORCA-IN 8 104455963 104455963 single base substitution A G downstream_gene_variant OV-AU 8 104424165 104424165 single base substitution G T upstream_gene_variant OV-AU 8 104431744 104431744 single base substitution C T intron_variant OV-AU 8 104442395 104442395 single base substitution G C downstream_gene_variant OV-AU 8 104442395 104442395 single base substitution G C exon_variant OV-AU 8 104442395 104442395 single base substitution G C intron_variant OV-AU 8 104446464 104446464 single base substitution G C intron_variant OV-AU 8 104446761 104446761 single base substitution C G intron_variant OV-AU 8 104460596 104460596 single base substitution C G downstream_gene_variant PACA-AU 8 104425379 104425379 single base substitution A G upstream_gene_variant PACA-AU 8 104429948 104429948 deletion of <=200bp A - intron_variant PACA-AU 8 104430725 104430725 single base substitution C A intron_variant PACA-AU 8 104436239 104436239 deletion of <=200bp T - downstream_gene_variant PACA-AU 8 104436239 104436239 deletion of <=200bp T - intron_variant PACA-AU 8 104438564 104438564 single base substitution T A intron_variant PACA-AU 8 104443749 104443749 single base substitution G A downstream_gene_variant PACA-AU 8 104443749 104443749 single base substitution G A intron_variant PACA-AU 8 104444668 104444668 single base substitution T C downstream_gene_variant PACA-AU 8 104444668 104444668 single base substitution T C intron_variant PACA-AU 8 104446141 104446141 single base substitution A T intron_variant PACA-AU 8 104451525 104451525 single base substitution A G intron_variant PACA-AU 8 104452655 104452655 single base substitution T G downstream_gene_variant PACA-AU 8 104452655 104452655 single base substitution T G intron_variant PACA-AU 8 104454546 104454546 insertion of <=200bp - T downstream_gene_variant PACA-AU 8 104454546 104454546 insertion of <=200bp - T intron_variant PACA-AU 8 104456538 104456538 single base substitution C G downstream_gene_variant PACA-AU 8 104458891 104458891 single base substitution G A downstream_gene_variant PACA-AU 8 104459872 104459872 single base substitution A G downstream_gene_variant PACA-CA 8 104422505 104422505 single base substitution G A upstream_gene_variant PACA-CA 8 104425631 104425631 single base substitution G C upstream_gene_variant PACA-CA 8 104426648 104426648 single base substitution G A upstream_gene_variant PACA-CA 8 104429401 104429401 single base substitution G A intron_variant PACA-CA 8 104431609 104431609 single base substitution G T intron_variant PACA-CA 8 104432591 104432591 single base substitution C T exon_variant PACA-CA 8 104432591 104432591 single base substitution C T intron_variant PACA-CA 8 104432591 104432591 single base substitution C T missense_variant P209L 626C>T PACA-CA 8 104432591 104432591 single base substitution C T missense_variant P53L 158C>T PACA-CA 8 104432818 104432818 single base substitution G A 3_prime_UTR_variant PACA-CA 8 104432818 104432818 single base substitution G A intron_variant PACA-CA 8 104436633 104436633 single base substitution A G downstream_gene_variant PACA-CA 8 104436633 104436633 single base substitution A G intron_variant PACA-CA 8 104441616 104441616 single base substitution A G downstream_gene_variant PACA-CA 8 104441616 104441616 single base substitution A G exon_variant PACA-CA 8 104441616 104441616 single base substitution A G intron_variant PACA-CA 8 104442539 104442539 single base substitution G C downstream_gene_variant PACA-CA 8 104442539 104442539 single base substitution G C exon_variant PACA-CA 8 104442539 104442539 single base substitution G C intron_variant PACA-CA 8 104443059 104443059 single base substitution G T downstream_gene_variant PACA-CA 8 104443059 104443059 single base substitution G T intron_variant PACA-CA 8 104446565 104446565 single base substitution T G intron_variant PACA-CA 8 104451825 104451825 single base substitution C T intron_variant PACA-CA 8 104452978 104452978 single base substitution C T downstream_gene_variant PACA-CA 8 104452978 104452978 single base substitution C T intron_variant PACA-CA 8 104459239 104459239 single base substitution G A downstream_gene_variant PACA-CA 8 104459738 104459738 single base substitution A G downstream_gene_variant PACA-CA 8 104460391 104460391 single base substitution T A downstream_gene_variant PAEN-IT 8 104458387 104458387 single base substitution T C downstream_gene_variant PBCA-DE 8 104422571 104422571 single base substitution A G upstream_gene_variant PBCA-DE 8 104438154 104438154 single base substitution A G intron_variant PBCA-DE 8 104438984 104438984 single base substitution G A intron_variant PBCA-DE 8 104452555 104452555 insertion of <=200bp - TAT downstream_gene_variant PBCA-DE 8 104452555 104452555 insertion of <=200bp - TAT intron_variant PRAD-CA 8 104438564 104438564 single base substitution T A intron_variant PRAD-CA 8 104443526 104443526 single base substitution G T downstream_gene_variant PRAD-CA 8 104443526 104443526 single base substitution G T intron_variant PRAD-CA 8 104457724 104457724 single base substitution T C downstream_gene_variant PRAD-UK 8 104424162 104424162 single base substitution C A upstream_gene_variant PRAD-UK 8 104436823 104436823 single base substitution C G downstream_gene_variant PRAD-UK 8 104436823 104436823 single base substitution C G intron_variant PRAD-UK 8 104444208 104444208 single base substitution T A downstream_gene_variant PRAD-UK 8 104444208 104444208 single base substitution T A intron_variant PRAD-UK 8 104450800 104450800 insertion of <=200bp - A intron_variant PRAD-UK 8 104450804 104450804 insertion of <=200bp - A intron_variant PRAD-UK 8 104458349 104458349 single base substitution T G downstream_gene_variant PRAD-US 8 104442877 104442877 single base substitution T C downstream_gene_variant PRAD-US 8 104442877 104442877 single base substitution T C exon_variant PRAD-US 8 104442877 104442877 single base substitution T C missense_variant I373T 1118T>C RECA-EU 8 104424129 104424129 single base substitution A T upstream_gene_variant RECA-EU 8 104450190 104450190 single base substitution A T intron_variant RECA-EU 8 104451367 104451367 single base substitution G A intron_variant RECA-EU 8 104458518 104458518 single base substitution A G downstream_gene_variant RECA-EU 8 104459655 104459655 single base substitution G T downstream_gene_variant SKCA-BR 8 104422156 104422156 single base substitution G T upstream_gene_variant SKCA-BR 8 104423980 104423980 single base substitution T A upstream_gene_variant SKCA-BR 8 104431052 104431052 insertion of <=200bp - TTA intron_variant SKCA-BR 8 104431082 104431082 single base substitution A T intron_variant SKCA-BR 8 104431090 104431090 single base substitution A T intron_variant SKCA-BR 8 104431094 104431094 insertion of <=200bp - ATAT intron_variant SKCA-BR 8 104431353 104431353 single base substitution C T intron_variant SKCA-BR 8 104432235 104432235 insertion of <=200bp - CA intron_variant SKCA-BR 8 104433535 104433535 single base substitution G A downstream_gene_variant SKCA-BR 8 104433535 104433535 single base substitution G A intron_variant SKCA-BR 8 104433755 104433755 single base substitution C T downstream_gene_variant SKCA-BR 8 104433755 104433755 single base substitution C T intron_variant SKCA-BR 8 104433968 104433968 single base substitution T C downstream_gene_variant SKCA-BR 8 104433968 104433968 single base substitution T C intron_variant SKCA-BR 8 104435964 104435964 single base substitution C T downstream_gene_variant SKCA-BR 8 104435964 104435964 single base substitution C T intron_variant SKCA-BR 8 104438931 104438931 single base substitution C T intron_variant SKCA-BR 8 104440751 104440751 single base substitution C T 3_prime_UTR_variant SKCA-BR 8 104440751 104440751 single base substitution C T downstream_gene_variant SKCA-BR 8 104440751 104440751 single base substitution C T exon_variant SKCA-BR 8 104440751 104440751 single base substitution C T intron_variant SKCA-BR 8 104445159 104445159 single base substitution T A downstream_gene_variant SKCA-BR 8 104445159 104445159 single base substitution T A intron_variant SKCA-BR 8 104446235 104446235 single base substitution C T intron_variant SKCA-BR 8 104446869 104446869 single base substitution T C intron_variant SKCA-BR 8 104447867 104447867 single base substitution G T exon_variant SKCA-BR 8 104447867 104447867 single base substitution G T missense_variant D419Y 1255G>T SKCA-BR 8 104448723 104448723 single base substitution T C intron_variant SKCA-BR 8 104449159 104449159 single base substitution T A intron_variant SKCA-BR 8 104452313 104452313 insertion of <=200bp - CAAAG intron_variant SKCA-BR 8 104454926 104454926 single base substitution T A downstream_gene_variant SKCA-BR 8 104454926 104454926 single base substitution T A intron_variant SKCM-US 8 104427482 104427482 single base substitution A G synonymous_variant E88E 264A>G SKCM-US 8 104427482 104427482 single base substitution A G upstream_gene_variant SKCM-US 8 104427535 104427535 single base substitution T C missense_variant V106A 317T>C SKCM-US 8 104427535 104427535 single base substitution T C upstream_gene_variant SKCM-US 8 104427556 104427556 single base substitution C T missense_variant S113F 338C>T SKCM-US 8 104427556 104427556 single base substitution C T upstream_gene_variant SKCM-US 8 104427557 104427557 single base substitution C T synonymous_variant S113S 339C>T SKCM-US 8 104427557 104427557 single base substitution C T upstream_gene_variant SKCM-US 8 104427664 104427664 single base substitution G A 5_prime_UTR_variant SKCM-US 8 104427664 104427664 single base substitution G A exon_variant SKCM-US 8 104427664 104427664 single base substitution G A missense_variant R149K 446G>A SKCM-US 8 104432603 104432603 single base substitution C T exon_variant SKCM-US 8 104432603 104432603 single base substitution C T intron_variant SKCM-US 8 104432603 104432603 single base substitution C T missense_variant S213L 638C>T SKCM-US 8 104432603 104432603 single base substitution C T missense_variant S57L 170C>T SKCM-US 8 104442916 104442916 single base substitution A C downstream_gene_variant SKCM-US 8 104442916 104442916 single base substitution A C missense_variant K386T 1157A>C SKCM-US 8 104442916 104442916 single base substitution A C splice_region_variant SKCM-US 8 104447900 104447900 single base substitution C T exon_variant SKCM-US 8 104447900 104447900 single base substitution C T missense_variant H430Y 1288C>T STAD-US 8 104427341 104427341 single base substitution G T synonymous_variant G41G 123G>T STAD-US 8 104427341 104427341 single base substitution G T upstream_gene_variant STAD-US 8 104427493 104427493 single base substitution C G missense_variant A92G 275C>G STAD-US 8 104427493 104427493 single base substitution C G upstream_gene_variant STAD-US 8 104427550 104427550 single base substitution G A missense_variant R111H 332G>A STAD-US 8 104427550 104427550 single base substitution G A upstream_gene_variant STAD-US 8 104427572 104427572 single base substitution T C synonymous_variant T118T 354T>C STAD-US 8 104427572 104427572 single base substitution T C upstream_gene_variant STAD-US 8 104427572 104427572 single base substitution T G synonymous_variant T118T 354T>G STAD-US 8 104427572 104427572 single base substitution T G upstream_gene_variant STAD-US 8 104427576 104427576 single base substitution A C missense_variant S120R 358A>C STAD-US 8 104427576 104427576 single base substitution A C upstream_gene_variant STAD-US 8 104427608 104427608 single base substitution G A 5_prime_UTR_variant STAD-US 8 104427608 104427608 single base substitution G A synonymous_variant G130G 390G>A STAD-US 8 104427608 104427608 single base substitution G A upstream_gene_variant STAD-US 8 104432506 104432506 single base substitution G T exon_variant STAD-US 8 104432506 104432506 single base substitution G T intron_variant STAD-US 8 104432506 104432506 single base substitution G T missense_variant D181Y 541G>T STAD-US 8 104432506 104432506 single base substitution G T missense_variant D25Y 73G>T STAD-US 8 104432575 104432575 single base substitution C T exon_variant STAD-US 8 104432575 104432575 single base substitution C T intron_variant STAD-US 8 104432575 104432575 single base substitution C T stop_gained R204* 610C>T STAD-US 8 104432575 104432575 single base substitution C T stop_gained R48* 142C>T STAD-US 8 104432678 104432678 single base substitution C T exon_variant STAD-US 8 104432678 104432678 single base substitution C T intron_variant STAD-US 8 104432678 104432678 single base substitution C T missense_variant A238V 713C>T STAD-US 8 104432678 104432678 single base substitution C T missense_variant A82V 245C>T STAD-US 8 104447873 104447873 single base substitution C T exon_variant STAD-US 8 104447873 104447873 single base substitution C T missense_variant R421C 1261C>T STAD-US 8 104452374 104452374 single base substitution C G exon_variant STAD-US 8 104452374 104452374 single base substitution C G missense_variant H473D 1417C>G STAD-US 8 104452417 104452417 single base substitution C T exon_variant STAD-US 8 104452417 104452417 single base substitution C T missense_variant S487F 1460C>T STAD-US 8 104452496 104452496 single base substitution T C exon_variant STAD-US 8 104452496 104452496 single base substitution T C synonymous_variant G513G 1539T>C STAD-US 8 104453766 104453766 single base substitution A T downstream_gene_variant STAD-US 8 104453766 104453766 single base substitution A T exon_variant STAD-US 8 104453766 104453766 single base substitution A T synonymous_variant I542I 1626A>T STAD-US 8 104453816 104453816 single base substitution A C downstream_gene_variant STAD-US 8 104453816 104453816 single base substitution A C exon_variant STAD-US 8 104453816 104453816 single base substitution A C missense_variant Q559P 1676A>C THCA-SA 8 104453752 104453752 single base substitution C T downstream_gene_variant THCA-SA 8 104453752 104453752 single base substitution C T exon_variant THCA-SA 8 104453752 104453752 single base substitution C T missense_variant H538Y 1612C>T THCA-US 8 104427255 104427255 single base substitution G C missense_variant V13L 37G>C THCA-US 8 104427255 104427255 single base substitution G C upstream_gene_variant THCA-US 8 104444914 104444914 single base substitution A G downstream_gene_variant THCA-US 8 104444914 104444914 single base substitution A G exon_variant THCA-US 8 104444914 104444914 single base substitution A G missense_variant I396V 1186A>G UCEC-US 8 104432505 104432505 single base substitution T C exon_variant UCEC-US 8 104432505 104432505 single base substitution T C intron_variant UCEC-US 8 104432505 104432505 single base substitution T C synonymous_variant Y180Y 540T>C UCEC-US 8 104432505 104432505 single base substitution T C synonymous_variant Y24Y 72T>C UCEC-US 8 104432548 104432548 single base substitution A C exon_variant UCEC-US 8 104432548 104432548 single base substitution A C intron_variant UCEC-US 8 104432548 104432548 single base substitution A C synonymous_variant R195R 583A>C UCEC-US 8 104432548 104432548 single base substitution A C synonymous_variant R39R 115A>C UCEC-US 8 104438371 104438371 single base substitution A C missense_variant K116Q 346A>C UCEC-US 8 104438371 104438371 single base substitution A C missense_variant K152Q 454A>C UCEC-US 8 104438371 104438371 single base substitution A C missense_variant K308Q 922A>C UCEC-US 8 104438371 104438371 single base substitution A C splice_region_variant UCEC-US 8 104439410 104439410 single base substitution G T exon_variant UCEC-US 8 104439410 104439410 single base substitution G T missense_variant R145I 434G>T UCEC-US 8 104439410 104439410 single base substitution G T missense_variant R181I 542G>T UCEC-US 8 104439410 104439410 single base substitution G T missense_variant R337I 1010G>T UCEC-US 8 104439415 104439415 single base substitution A G exon_variant UCEC-US 8 104439415 104439415 single base substitution A G missense_variant N147D 439A>G UCEC-US 8 104439415 104439415 single base substitution A G missense_variant N183D 547A>G UCEC-US 8 104439415 104439415 single base substitution A G missense_variant N339D 1015A>G UCEC-US 8 104439464 104439464 single base substitution A C exon_variant UCEC-US 8 104439464 104439464 single base substitution A C missense_variant K163T 488A>C UCEC-US 8 104439464 104439464 single base substitution A C missense_variant K199T 596A>C UCEC-US 8 104439464 104439464 single base substitution A C missense_variant K355T 1064A>C UCEC-US 8 104452432 104452432 single base substitution T C exon_variant UCEC-US 8 104452432 104452432 single base substitution T C missense_variant I492T 1475T>C UCEC-US 8 104453709 104453709 single base substitution G T downstream_gene_variant UCEC-US 8 104453709 104453709 single base substitution G T exon_variant UCEC-US 8 104453709 104453709 single base substitution G T missense_variant K523N 1569G>T UCEC-US 8 104455034 104455034 single base substitution G A downstream_gene_variant UCEC-US 8 104455034 104455034 single base substitution G A exon_variant UCEC-US 8 104455034 104455034 single base substitution G A missense_variant R573H 1718G>A UCEC-US 8 104455090 104455090 single base substitution G A downstream_gene_variant UCEC-US 8 104455090 104455090 single base substitution G A exon_variant UCEC-US 8 104455090 104455090 single base substitution G A missense_variant V592I 1774G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand B74-Tumor COSM1755492 c.1284G>A p.M428I Substitution - Missense 8:103435668-103435668 + T2969 COSM4676347 c.414C>T p.L138L Substitution - coding silent 8:103415404-103415404 + YUKAT COSM5408497 c.236G>A p.G79E Substitution - Missense 8:103415226-103415226 + TCGA-BS-A0UF-01 COSM200290 c.1010G>T p.R337I Substitution - Missense 8:103427182-103427182 + 2_RESISTANT COSM1721790 c.376G>A p.E126K Substitution - Missense 8:103415366-103415366 + sysucc-825T COSM5485311 c.1592A>G p.E531G Substitution - Missense 8:103441504-103441504 + C086 COSM5529584 c.1148C>T p.P383L Substitution - Missense 8:103430679-103430679 + ESO-153 COSM1249730 c.329G>C p.G110A Substitution - Missense 8:103415319-103415319 + ME043T COSM228496 c.1158+1G>A p.? Unknown 8:103430690-103430690 + ESO-0059 COSM1249729 c.354T>C p.T118T Substitution - coding silent 8:103415344-103415344 + I2L-P19Ta-Tumor-Biopsy COSM1643460 c.1080+7delT p.? Unknown 8:103427259-103427259 + 2292386 COSM4610598 c.124G>A p.A42T Substitution - Missense 8:103415114-103415114 + LUAD-RT-S01477 COSM377751 c.1078G>C p.E360Q Substitution - Missense 8:103427250-103427250 + PT48 COSM5932216 c.1609C>T p.P537S Substitution - Missense 8:103441521-103441521 + T2269 COSM4676350 c.1375C>T p.R459* Substitution - Nonsense 8:103435759-103435759 + Au4 COSM5603346 c.69delA p.G24fs*8 Deletion - Frameshift 8:103415059-103415059 + TCGA-BS-A0UF-01 COSM1094482 c.1475T>C p.I492T Substitution - Missense 8:103440204-103440204 + 46M COSM5587597 c.1458T>C p.T486T Substitution - coding silent 8:103440187-103440187 + TCGA-BR-4366-01 COSM3884282 c.354T>G p.T118T Substitution - coding silent 8:103415344-103415344 + LP6007591 COSM1249729 c.354T>C p.T118T Substitution - coding silent 8:103415344-103415344 + 255 COSM1643460 c.1080+7delT p.? Unknown 8:103427259-103427259 + TCGA-AA-3712-01 COSM5830795 c.275delC p.A92fs*26 Deletion - Frameshift 8:103415265-103415265 + ESCC_131 COSM5642309 c.454G>A p.E152K Substitution - Missense 8:103415444-103415444 + TCGA-EE-A2GO-06 COSM3643400 c.1288C>T p.H430Y Substitution - Missense 8:103435672-103435672 + TCGA-BR-6452-01 COSM3884288 c.1417C>G p.H473D Substitution - Missense 8:103440146-103440146 + Pat_41_B COSM5873651 c.1637G>A p.R546Q Substitution - Missense 8:103441549-103441549 + TCGA-D9-A6EC-06 COSM4403006 c.1157A>C p.K386T Substitution - Missense 8:103430688-103430688 + TCGA-AK-3431-01 COSM3367150 c.1209T>C p.A403A Substitution - coding silent 8:103432709-103432709 + pfg222T COSM4759685 c.113G>C p.S38T Substitution - Missense 8:103415103-103415103 + TCGA-AN-A046-01 COSM1203058 c.1376G>A p.R459Q Substitution - Missense 8:103435760-103435760 + S02243 COSM5677947 c.1261C>A p.R421S Substitution - Missense 8:103435645-103435645 + TCGA-KK-A5A1-01 COSM4392066 c.1118T>C p.I373T Substitution - Missense 8:103430649-103430649 + CHC736T COSM4950410 c.1040G>T p.G347V Substitution - Missense 8:103427212-103427212 + LUAD-E00934 COSM393812 c.874G>C p.G292R Substitution - Missense 8:103426095-103426095 + WA27 COSM237275 c.342G>T p.A114A Substitution - coding silent 8:103415332-103415332 + CSCC-20-T COSM4484832 c.285C>A p.C95* Substitution - Nonsense 8:103415275-103415275 + TCGA-BR-4292-01 COSM1249729 c.354T>C p.T118T Substitution - coding silent 8:103415344-103415344 + TCGA-AD-6964-01 COSM1453735 c.48C>T p.T16T Substitution - coding silent 8:103415038-103415038 + T2225 COSM4676349 c.1262G>A p.R421H Substitution - Missense 8:103435646-103435646 + ESCC_122 COSM5640814 c.1113G>C p.R371S Substitution - Missense 8:103430644-103430644 + TCGA-EK-A3GJ-01 COSM4852537 c.1460C>G p.S487C Substitution - Missense 8:103440189-103440189 + 2_PRE-TREATMENT COSM1721790 c.376G>A p.E126K Substitution - Missense 8:103415366-103415366 + TCGA-GM-A2DB-01 COSM3833777 c.835G>C p.V279L Substitution - Missense 8:103426056-103426056 + T2931 COSM1249729 c.354T>C p.T118T Substitution - coding silent 8:103415344-103415344 + WA3 COSM239522 c.553C>T p.H185Y Substitution - Missense 8:103420290-103420290 + HN_62469 COSM127107 c.1081-1G>A p.? Unknown 8:103430611-103430611 + ESO-866 COSM1249731 c.1379T>C p.I460T Substitution - Missense 8:103435763-103435763 + TCGA-AM-5821-01 COSM3762971 c.666T>C p.N222N Substitution - coding silent 8:103420403-103420403 + ESCC_91 COSM5636968 c.1636C>T p.R546* Substitution - Nonsense 8:103441548-103441548 + CSCC-31-T COSM4545944 c.389G>A p.G130E Substitution - Missense 8:103415379-103415379 + TCGA-HR-A2OH-01 COSM137502 c.446G>A p.R149K Substitution - Missense 8:103415436-103415436 + TCGA-AX-A05Z-01 COSM1094480 c.1015A>G p.N339D Substitution - Missense 8:103427187-103427187 + TCGA-D7-5577-01 COSM3884284 c.390G>A p.G130G Substitution - coding silent 8:103415380-103415380 + 234 COSM1643460 c.1080+7delT p.? Unknown 8:103427259-103427259 + B58-Tumor COSM453777 c.141A>C p.R47S Substitution - Missense 8:103415131-103415131 + I2L-P19Ta-Tumor-Organoid COSM1643460 c.1080+7delT p.? Unknown 8:103427259-103427259 + TCGA-BF-A1PV-01 COSM3643399 c.339C>T p.S113S Substitution - coding silent 8:103415329-103415329 + Au4 COSM5603347 c.71G>A p.G24E Substitution - Missense 8:103415061-103415061 + TCGA-AP-A051-01 COSM1094483 c.1569G>T p.K523N Substitution - Missense 8:103441481-103441481 + HCC132 COSM1623450 c.75C>G p.L25L Substitution - coding silent 8:103415065-103415065 + PTC_49 COSM5959708 c.1612C>T p.H538Y Substitution - Missense 8:103441524-103441524 + CSCC-35-T COSM137502 c.446G>A p.R149K Substitution - Missense 8:103415436-103415436 + LC_S20 COSM1187593 c.191T>C p.L64P Substitution - Missense 8:103415181-103415181 + TCGA-AA-A010-01 COSM280304 c.1573T>C p.Y525H Substitution - Missense 8:103441485-103441485 + TCGA-AM-5821-01 COSM3762970 c.580A>G p.I194V Substitution - Missense 8:103420317-103420317 + ESO-0001 COSM1249729 c.354T>C p.T118T Substitution - coding silent 8:103415344-103415344 + PD4847a COSM5778083 c.354T>A p.T118T Substitution - coding silent 8:103415344-103415344 + TCGA-ET-A2N4-01 COSM3374724 c.37G>C p.V13L Substitution - Missense 8:103415027-103415027 + TCGA-BR-6454-01 COSM3884281 c.332G>A p.R111H Substitution - Missense 8:103415322-103415322 + TCGA-FW-A3R5-06 COSM3924405 c.638C>T p.S213L Substitution - Missense 8:103420375-103420375 + 3N42-VS-3T42 COSM4981980 c.892G>A p.E298K Substitution - Missense 8:103426113-103426113 + CSCC-11-T COSM137502 c.446G>A p.R149K Substitution - Missense 8:103415436-103415436 + TCGA-P4-A5E8-01 COSM4414548 c.586G>T p.A196S Substitution - Missense 8:103420323-103420323 + TCGA-BR-7958-01 COSM3884280 c.275C>G p.A92G Substitution - Missense 8:103415265-103415265 + TCGA-MH-A55Z-01 COSM3995801 c.1222G>T p.A408S Substitution - Missense 8:103432722-103432722 + TCGA-EE-A2MQ-06 COSM137502 c.446G>A p.R149K Substitution - Missense 8:103415436-103415436 + ESO-122 COSM748990 c.132G>C p.T44T Substitution - coding silent 8:103415122-103415122 + BK0018 COSM4186091 c.1045G>T p.D349Y Substitution - Missense 8:103427217-103427217 + PTC-28C COSM4162576 c.1103C>G p.A368G Substitution - Missense 8:103430634-103430634 + BD72T COSM1643460 c.1080+7delT p.? Unknown 8:103427259-103427259 + YUSIPU COSM5408498 c.1642C>T p.L548L Substitution - coding silent 8:103441554-103441554 + TCGA-D3-A1Q8-06 COSM3643398 c.338C>T p.S113F Substitution - Missense 8:103415328-103415328 + TCGA-BR-8360-01 COSM3884285 c.541G>T p.D181Y Substitution - Missense 8:103420278-103420278 + 2 COSM4657379 c.1272C>A p.D424E Substitution - Missense 8:103435656-103435656 + PD4602a COSM160337 c.468G>T p.K156N Substitution - Missense 8:103415458-103415458 + PT48 COSM5932214 c.242G>A p.G81E Substitution - Missense 8:103415232-103415232 + HT115 COSM3269826 c.1362C>T p.F454F Substitution - coding silent 8:103435746-103435746 + T578 COSM4676348 c.824C>A p.S275Y Substitution - Missense 8:103421072-103421072 + HCC38 COSM50578 c.248A>G p.D83G Substitution - Missense 8:103415238-103415238 + LUAD-B02594 COSM336936 c.259A>G p.K87E Substitution - Missense 8:103415249-103415249 + TCGA-66-2754-01 COSM748989 c.324A>T p.P108P Substitution - coding silent 8:103415314-103415314 + S02322 COSM4826088 c.212C>G p.S71W Substitution - Missense 8:103415202-103415202 + TCGA-BR-4255-01 COSM3884289 c.1460C>T p.S487F Substitution - Missense 8:103440189-103440189 + PT48 COSM5932215 c.1417C>T p.H473Y Substitution - Missense 8:103440146-103440146 + pfg222T COSM4759686 c.114T>A p.S38R Substitution - Missense 8:103415104-103415104 + TCGA-BR-8080-01 COSM1249729 c.354T>C p.T118T Substitution - coding silent 8:103415344-103415344 + ESCC_39 COSM4826088 c.212C>G p.S71W Substitution - Missense 8:103415202-103415202 + pfg016T COSM1643460 c.1080+7delT p.? Unknown 8:103427259-103427259 + Pat_70_A COSM3412622 c.1504C>T p.R502C Substitution - Missense 8:103440233-103440233 + CHC892T COSM4794442 c.924+1G>A p.? Unknown 8:103426146-103426146 + cSCCP2 COSM137502 c.446G>A p.R149K Substitution - Missense 8:103415436-103415436 + TCGA-B0-5120-01 COSM485902 c.1238A>T p.Y413F Substitution - Missense 8:103432738-103432738 + TCGA-AP-A056-01 COSM1094478 c.583A>C p.R195R Substitution - coding silent 8:103420320-103420320 + ESO-0015 COSM1249729 c.354T>C p.T118T Substitution - coding silent 8:103415344-103415344 + SC_9003 COSM5565198 c.752G>A p.R251Q Substitution - Missense 8:103421000-103421000 + 49M COSM5590464 c.872A>T p.D291V Substitution - Missense 8:103426093-103426093 + pfg019T COSM1643460 c.1080+7delT p.? Unknown 8:103427259-103427259 + CSCC-31-T COSM4491546 c.381C>T p.V127V Substitution - coding silent 8:103415371-103415371 + CSCC-16-T COSM4554115 c.611G>A p.R204Q Substitution - Missense 8:103420348-103420348 + 587332 COSM1203059 c.165C>G p.S55R Substitution - Missense 8:103415155-103415155 + MPCC_0037_Pa_C COSM3382071 c.626C>T p.P209L Substitution - Missense 8:103420363-103420363 + TCGA-AX-A05Z-01 COSM200290 c.1010G>T p.R337I Substitution - Missense 8:103427182-103427182 + ESCC_26 COSM5627146 c.341C>A p.A114E Substitution - Missense 8:103415331-103415331 + CHC892T COSM4794442 c.924+1G>A p.? Unknown 8:103426146-103426146 + SMYM-PRGP COSM3727687 c.764G>A p.R255H Substitution - Missense 8:103421012-103421012 + PT36 COSM5915778 c.356G>A p.G119E Substitution - Missense 8:103415346-103415346 + LC_S20 COSM1187594 c.412C>G p.L138V Substitution - Missense 8:103415402-103415402 + TCGA-AM-5821-01 COSM453778 c.360T>C p.S120S Substitution - coding silent 8:103415350-103415350 + B74 COSM1755492 c.1284G>A p.M428I Substitution - Missense 8:103435668-103435668 + TCGA-B4-5836-01 COSM1496760 c.1201A>G p.M401V Substitution - Missense 8:103432701-103432701 + CHC322T COSM453778 c.360T>C p.S120S Substitution - coding silent 8:103415350-103415350 + TCGA-A4-A57E-01 COSM3995800 c.623A>C p.K208T Substitution - Missense 8:103420360-103420360 + TCGA-ER-A193-06 COSM3643399 c.339C>T p.S113S Substitution - coding silent 8:103415329-103415329 + T3724 COSM4676351 c.1415A>C p.Y472S Substitution - Missense 8:103440144-103440144 + S02403 COSM5700584 c.1315G>C p.D439H Substitution - Missense 8:103435699-103435699 + SS6003109 COSM1249729 c.354T>C p.T118T Substitution - coding silent 8:103415344-103415344 + TCGA-HU-A4GU-01 COSM3884287 c.1261C>T p.R421C Substitution - Missense 8:103435645-103435645 + TCGA-AP-A056-01 COSM1094479 c.922A>C p.K308Q Substitution - Missense 8:103426143-103426143 + Pat_06_B COSM5873650 c.1153delA p.K386fs*4 Deletion - Frameshift 8:103430684-103430684 + TC32 COSM4587705 c.334C>G p.R112G Substitution - Missense 8:103415324-103415324 + TCGA-BR-6452-01 COSM3884290 c.1539T>C p.G513G Substitution - coding silent 8:103440268-103440268 + TCGA-BR-4370-01 COSM3269809 c.713C>T p.A238V Substitution - Missense 8:103420450-103420450 + NB-1369 COSM1284416 c.156G>A p.P52P Substitution - coding silent 8:103415146-103415146 + PT23_1 COSM5902864 c.271C>T p.L91F Substitution - Missense 8:103415261-103415261 + TCGA-AX-A063-01 COSM1094477 c.540T>C p.Y180Y Substitution - coding silent 8:103420277-103420277 + TCGA-A8-A08R-01 COSM453779 c.1426A>G p.R476G Substitution - Missense 8:103440155-103440155 + ESCC_BICR_007T COSM5434214 c.709G>C p.G237R Substitution - Missense 8:103420446-103420446 + TCGA-E3-A3DZ-01 COSM3374725 c.1186A>G p.I396V Substitution - Missense 8:103432686-103432686 + 05-P8014 COSM4587706 c.961G>A p.A321T Substitution - Missense 8:103427133-103427133 + TCGA-AG-A026-01 COSM290449 c.1703G>A p.R568Q Substitution - Missense 8:103441615-103441615 + TCGA-HU-A4H3-01 COSM3884279 c.123G>T p.G41G Substitution - coding silent 8:103415113-103415113 + Pat_53_B COSM5873649 c.751C>T p.R251W Substitution - Missense 8:103420999-103420999 + TCGA-EB-A551-01 COSM3643397 c.317T>C p.V106A Substitution - Missense 8:103415307-103415307 + TCGA-AX-A0J0-01 COSM1094485 c.1774G>A p.V592I Substitution - Missense 8:103442862-103442862 + CSCC-45-T COSM4545310 c.375G>A p.A125A Substitution - coding silent 8:103415365-103415365 + TCGA-CG-5724-01 COSM3884291 c.1626A>T p.I542I Substitution - coding silent 8:103441538-103441538 + TCGA-D1-A15X-01 COSM1094484 c.1718G>A p.R573H Substitution - Missense 8:103442806-103442806 + TCGA-37-5819-01 COSM748988 c.1148C>A p.P383H Substitution - Missense 8:103430679-103430679 + TCGA-EE-A2GI-06 COSM3643396 c.264A>G p.E88E Substitution - coding silent 8:103415254-103415254 + LUAD-F00282 COSM367507 c.908A>C p.H303P Substitution - Missense 8:103426129-103426129 + TCGA-B5-A0JY-01 COSM1094481 c.1064A>C p.K355T Substitution - Missense 8:103427236-103427236 + CSCC-44-T COSM4478816 c.226C>G p.P76A Substitution - Missense 8:103415216-103415216 + GC_299T1-GC_299N COSM4772523 c.1640A>G p.H547R Substitution - Missense 8:103441552-103441552 + CSCC-60-T COSM1721790 c.376G>A p.E126K Substitution - Missense 8:103415366-103415366 + LUAD-CHTN-3090346 COSM357093 c.1136G>A p.R379K Substitution - Missense 8:103430667-103430667 + RK308_C01 COSM3768633 c.678G>A p.K226K Substitution - coding silent 8:103420415-103420415 + CHC322T COSM4407007 c.323C>T p.P108L Substitution - Missense 8:103415313-103415313 + K-562 COSM1674056 c.112A>C p.S38R Substitution - Missense 8:103415102-103415102 + PT27 COSM5905750 c.241G>A p.G81R Substitution - Missense 8:103415231-103415231 + ODG10 COSM5731291 c.1662C>G p.S554R Substitution - Missense 8:103441574-103441574 + TCGA-12-0688-01 COSM3412622 c.1504C>T p.R502C Substitution - Missense 8:103440233-103440233 + TCGA-CD-8536-01 COSM3884286 c.610C>T p.R204* Substitution - Nonsense 8:103420347-103420347 + TCGA-37-3789-01 COSM748990 c.132G>C p.T44T Substitution - coding silent 8:103415122-103415122 + TCGA-Q1-A73P-01 COSM4826088 c.212C>G p.S71W Substitution - Missense 8:103415202-103415202 + I2L-P19Tb-Tumor-Organoid COSM1643460 c.1080+7delT p.? Unknown 8:103427259-103427259 + TCGA-CD-A4MJ-01 COSM3884292 c.1676A>C p.Q559P Substitution - Missense 8:103441588-103441588 + TCGA-BP-5170-01 COSM485901 c.865A>G p.K289E Substitution - Missense 8:103426086-103426086 + HCC132T COSM1623450 c.75C>G p.L25L Substitution - coding silent 8:103415065-103415065 + PD24322a COSM1249729 c.354T>C p.T118T Substitution - coding silent 8:103415344-103415344 + TCGA-BR-8363-01 COSM3884283 c.358A>C p.S120R Substitution - Missense 8:103415348-103415348 + 587238 COSM1203058 c.1376G>A p.R459Q Substitution - Missense 8:103435760-103435760 + CSCC-56-T COSM4490511 c.364C>T p.L122L Substitution - coding silent 8:103415354-103415354 + CHC736T COSM4950410 c.1040G>T p.G347V Substitution - Missense 8:103427212-103427212 + YUMER COSM137502 c.446G>A p.R149K Substitution - Missense 8:103415436-103415436 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.532236;Hs.532265 8q22.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.S350R c.1048A>C 8 104439448 COREAD A C Missense p.T85P c.253A>C 8 104427471 LUAD A G Missense p.I396V c.1186A>G 8 104444914 THCA A G Missense p.K289E c.865A>G 8 104438314 RCCC A G Missense p.R476G c.1426A>G 8 104452383 BRCA A G Missense p.Y180C c.539A>G 8 104432504 HNSC A G Synonymous p.E88E c.264A>G 8 104427482 CM A G Synonymous p.L139L c.417A>G 8 104427635 CM A T Missense p.Y413F c.1238A>T 8 104444966 RCCC A T Synonymous p.P108P c.324A>T 8 104427542 LUSC C A Missense p.P383H c.1148C>A 8 104442907 LUSC C G Missense p.S551C c.1652C>G 8 104453792 HNSC C T Missense p.A128V c.383C>T 8 104427601 CM C T Missense p.A238V c.713C>T 8 104432678 STAD C T Missense p.H430Y c.1288C>T 8 104447900 CM C T Missense p.R502C c.1504C>T 8 104452461 GBM C T Missense p.S113F c.338C>T 8 104427556 CM C T Missense p.S487F c.1460C>T 8 104452417 STAD C T Synonymous p.F454F c.1362C>T 8 104447974 LUAD C T Synonymous p.S113S c.339C>T 8 104427557 CM G A Missense p.G365E c.1094G>A 8 104442853 LUAD G A Missense p.R111H c.332G>A 8 104427550 STAD G A Missense p.R149K c.446G>A 8 104427664 CM G A Missense p.R568Q c.1703G>A 8 104453843 COREAD G A Missense p.S55N c.164G>A 8 104427382 CM G A SpliceAcceptorSNV . c.1081-1G>A 8 104442839 HNSC G A Synonymous p.G130G c.390G>A 8 104427608 STAD G A Synonymous p.P52P c.156G>A 8 104427374 NB G A Synonymous p.Q555Q c.1665G>A 8 104453805 CM G C Missense p.G110A c.329G>C 8 104427547 ESCA G C Missense p.V13L c.37G>C 8 104427255 THCA G C Synonymous p.T44T c.132G>C 8 104427350 LUSC - G Frameshift p.A42Gfs*46 c.124dupG 8 104427338 GBM G T Missense p.K156N c.468G>T 8 104427686 BRCA G T Missense p.Q527H c.1581G>T 8 104453721 LUAD G T Missense p.R251L c.752G>T 8 104433228 LUAD G T Synonymous p.S143S c.429G>T 8 104427647 LUAD T C Missense p.I373T c.1118T>C 8 104442877 PRAD T C Missense p.I460T c.1379T>C 8 104447991 ESCA T C Synonymous p.A403A c.1209T>C 8 104444937 RCCC T C Synonymous p.T118T c.354T>C 8 104427572 ESCA T C Synonymous p.T118T c.354T>C 8 104427572 STAD T C Synonymous p.Y180Y c.540T>C 8 104432505 UCEC T G Missense p.L173V c.517T>G 8 104427735 RCCC T G Synonymous p.T118T c.354T>G 8 104427572 STAD T - IntronicDeletion . c.1080+15delT 8 104439487 STAD - T IntronicInsertion . c.1706+177dupT 8 104454010 CM - TT IntronicInsertion . c.1706+176_1706+177dupTT 8 104454010 CM