Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 6 105219214 105219214 + Missense_Mutation SNP T T G TCGA-OR-A5J4-01A-11D-A29I-10 TCGA-OR-A5J4-10A-01D-A29L-10 g.chr6:105219214T>G c.2065A>C c.(2065-2067)Aaa>Caa p.K689Q BLCA 6 105177562 105177562 + Missense_Mutation SNP C C T TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 g.chr6:105177562C>T c.2705G>A c.(2704-2706)gGc>gAc p.G902D BLCA 6 105192072 105192072 + Missense_Mutation SNP C C T TCGA-4Z-AA7Y-01A-11D-A391-08 TCGA-4Z-AA7Y-10A-01D-A394-08 g.chr6:105192072C>T c.2476G>A c.(2476-2478)Gag>Aag p.E826K BLCA 6 105198288 105198288 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 g.chr6:105198288G>C c.2271C>G c.(2269-2271)atC>atG p.I757M BLCA 6 105225170 105225170 + Nonsense_Mutation SNP C C T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 g.chr6:105225170C>T c.1589G>A c.(1588-1590)tGg>tAg p.W530* BLCA 6 105239458 105239458 + Missense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr6:105239458C>T c.995G>A c.(994-996)cGa>cAa p.R332Q BLCA 6 105298851 105298851 + Nonsense_Mutation SNP G G C TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr6:105298851G>C c.152C>G c.(151-153)tCa>tGa p.S51* BRCA 6 105198288 105198288 + Silent SNP G G A TCGA-BH-A18I-01A-11D-A12B-09 TCGA-BH-A18I-10A-01D-A12B-09 g.chr6:105198288G>A c.2271C>T c.(2269-2271)atC>atT p.I757I BRCA 6 105219210 105219210 + Missense_Mutation SNP T T A TCGA-AN-A0XV-01A-11D-A10G-09 TCGA-AN-A0XV-10A-01D-A10G-09 g.chr6:105219210T>A c.2069A>T c.(2068-2070)aAt>aTt p.N690I BRCA 6 105224704 105224704 + Splice_Site SNP C C A TCGA-D8-A1X9-01A-12D-A159-09 TCGA-D8-A1X9-10A-01D-A17G-09 g.chr6:105224704C>A c.e17-1 BRCA 6 105239459 105239459 + Nonsense_Mutation SNP G G A TCGA-A7-A56D-01A-11D-A27P-09 TCGA-A7-A56D-10A-01D-A27P-09 g.chr6:105239459G>A c.994C>T c.(994-996)Cga>Tga p.R332* BRCA 6 105239507 105239507 + Missense_Mutation SNP G G C TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr6:105239507G>C c.946C>G c.(946-948)Caa>Gaa p.Q316E BRCA 6 105243507 105243507 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr6:105243507C>G c.870G>C c.(868-870)aaG>aaC p.K290N BRCA 6 105244542 105244542 + Silent SNP G G C TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 g.chr6:105244542G>C c.804C>G c.(802-804)ctC>ctG p.L268L BRCA 6 105291170 105291170 + Missense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr6:105291170C>A c.330G>T c.(328-330)caG>caT p.Q110H CESC 6 105232900 105232900 + Nonsense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 g.chr6:105232900G>A c.1369C>T c.(1369-1371)Caa>Taa p.Q457* COAD 6 105178188 105178188 + Missense_Mutation SNP A A G TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chr6:105178188A>G c.2617T>C c.(2617-2619)Tca>Cca p.S873P COAD 6 105198277 105198277 + Frame_Shift_Del DEL A A - TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr6:105198277delA c.2282delT c.(2281-2283)ttafs p.L761fs COAD 6 105198337 105198337 + Missense_Mutation SNP A A G TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr6:105198337A>G c.2222T>C c.(2221-2223)gTc>gCc p.V741A COAD 6 105198337 105198337 + Missense_Mutation SNP A A G TCGA-D5-6923-01A-11D-1924-10 TCGA-D5-6923-10A-01D-1924-10 g.chr6:105198337A>G c.2222T>C c.(2221-2223)gTc>gCc p.V741A COAD 6 105198346 105198346 + Splice_Site SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:105198346G>A c.2213C>T c.(2212-2214)gCg>gTg p.A738V COAD 6 105198346 105198346 + Splice_Site SNP G G A TCGA-AZ-5403-01A-01D-1650-10 TCGA-AZ-5403-10A-01D-1650-10 g.chr6:105198346G>A c.2213C>T c.(2212-2214)gCg>gTg p.A738V COAD 6 105219221 105219221 + Silent SNP T T C TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr6:105219221T>C c.2058A>G c.(2056-2058)gaA>gaG p.E686E COAD 6 105219890 105219890 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:105219890G>A c.1924C>T c.(1924-1926)Cgg>Tgg p.R642W COAD 6 105225086 105225086 + Missense_Mutation SNP T T C TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr6:105225086T>C c.1673A>G c.(1672-1674)cAc>cGc p.H558R COAD 6 105225190 105225190 + Silent SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr6:105225190A>C c.1569T>G c.(1567-1569)ccT>ccG p.P523P COAD 6 105232292 105232292 + Splice_Site SNP C C A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr6:105232292C>A c.1478G>T c.(1477-1479)aGa>aTa p.R493I COAD 6 105232918 105232918 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr6:105232918G>A c.1351C>T c.(1351-1353)Cgg>Tgg p.R451W COAD 6 105239396 105239396 + Missense_Mutation SNP T T C TCGA-AA-A03F-01A-11W-A096-10 TCGA-AA-A03F-11A-12W-A096-10 g.chr6:105239396T>C c.1057A>G c.(1057-1059)Aga>Gga p.R353G COAD 6 105244559 105244559 + Missense_Mutation SNP T T C TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr6:105244559T>C c.787A>G c.(787-789)Aca>Gca p.T263A COAD 6 105244587 105244587 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:105244587C>T c.759G>A c.(757-759)ccG>ccA p.P253P COAD 6 105244591 105244591 + Missense_Mutation SNP T T C TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr6:105244591T>C c.755A>G c.(754-756)cAc>cGc p.H252R COAD 6 105280965 105280965 + Silent SNP G G T TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr6:105280965G>T c.486C>A c.(484-486)gcC>gcA p.A162A COADREAD 6 105178188 105178188 + Missense_Mutation SNP A A G TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chr6:105178188A>G c.2617T>C c.(2617-2619)Tca>Cca p.S873P COADREAD 6 105198277 105198277 + Frame_Shift_Del DEL A A - TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr6:105198277delA c.2282delT c.(2281-2283)ttafs p.L761fs COADREAD 6 105198337 105198337 + Missense_Mutation SNP A A G TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr6:105198337A>G c.2222T>C c.(2221-2223)gTc>gCc p.V741A COADREAD 6 105198337 105198337 + Missense_Mutation SNP A A G TCGA-D5-6923-01A-11D-1924-10 TCGA-D5-6923-10A-01D-1924-10 g.chr6:105198337A>G c.2222T>C c.(2221-2223)gTc>gCc p.V741A COADREAD 6 105198346 105198346 + Splice_Site SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:105198346G>A c.2213C>T c.(2212-2214)gCg>gTg p.A738V COADREAD 6 105198346 105198346 + Splice_Site SNP G G A TCGA-AZ-5403-01A-01D-1650-10 TCGA-AZ-5403-10A-01D-1650-10 g.chr6:105198346G>A c.2213C>T c.(2212-2214)gCg>gTg p.A738V COADREAD 6 105219221 105219221 + Silent SNP T T C TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr6:105219221T>C c.2058A>G c.(2056-2058)gaA>gaG p.E686E COADREAD 6 105219890 105219890 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:105219890G>A c.1924C>T c.(1924-1926)Cgg>Tgg p.R642W COADREAD 6 105225086 105225086 + Missense_Mutation SNP T T C TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr6:105225086T>C c.1673A>G c.(1672-1674)cAc>cGc p.H558R COADREAD 6 105225190 105225190 + Silent SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr6:105225190A>C c.1569T>G c.(1567-1569)ccT>ccG p.P523P COADREAD 6 105232292 105232292 + Splice_Site SNP C C A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr6:105232292C>A c.1478G>T c.(1477-1479)aGa>aTa p.R493I COADREAD 6 105232918 105232918 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr6:105232918G>A c.1351C>T c.(1351-1353)Cgg>Tgg p.R451W COADREAD 6 105233165 105233165 + Silent SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:105233165A>G c.1104T>C c.(1102-1104)gaT>gaC p.D368D COADREAD 6 105239396 105239396 + Missense_Mutation SNP T T C TCGA-AA-A03F-01A-11W-A096-10 TCGA-AA-A03F-11A-12W-A096-10 g.chr6:105239396T>C c.1057A>G c.(1057-1059)Aga>Gga p.R353G COADREAD 6 105244559 105244559 + Missense_Mutation SNP T T C TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr6:105244559T>C c.787A>G c.(787-789)Aca>Gca p.T263A COADREAD 6 105244587 105244587 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:105244587C>T c.759G>A c.(757-759)ccG>ccA p.P253P COADREAD 6 105244591 105244591 + Missense_Mutation SNP T T C TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr6:105244591T>C c.755A>G c.(754-756)cAc>cGc p.H252R COADREAD 6 105244595 105244595 + Missense_Mutation SNP A A G TCGA-AG-A026-01A-32W-A096-10 TCGA-AG-A026-10A-01W-A096-10 g.chr6:105244595A>G c.751T>C c.(751-753)Tat>Cat p.Y251H COADREAD 6 105259193 105259193 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:105259193C>T c.610G>A c.(610-612)Gct>Act p.A204T COADREAD 6 105280965 105280965 + Silent SNP G G T TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr6:105280965G>T c.486C>A c.(484-486)gcC>gcA p.A162A COADREAD 6 105291167 105291167 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:105291167C>A c.333G>T c.(331-333)aaG>aaT p.K111N COADREAD 6 105297107 105297107 + Missense_Mutation SNP T T A TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr6:105297107T>A c.236A>T c.(235-237)gAa>gTa p.E79V ESCA 6 105192413 105192413 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr6:105192413A>G c.2416T>C c.(2416-2418)Tat>Cat p.Y806H ESCA 6 105232975 105232975 + Missense_Mutation SNP C C A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 g.chr6:105232975C>A c.1294G>T c.(1294-1296)Gca>Tca p.A432S ESCA 6 105239382 105239382 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 g.chr6:105239382G>T c.1071C>A c.(1069-1071)ttC>ttA p.F357L ESCA 6 105244829 105244829 + Missense_Mutation SNP A A T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 g.chr6:105244829A>T c.689T>A c.(688-690)gTa>gAa p.V230E GBMLGG 6 105177553 105177553 + Missense_Mutation SNP C C T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 g.chr6:105177553C>T c.2714G>A c.(2713-2715)gGt>gAt p.G905D GBMLGG 6 105232863 105232863 + Missense_Mutation SNP G G A TCGA-DU-5852-01A-11D-1705-08 TCGA-DU-5852-10A-01D-1705-08 g.chr6:105232863G>A c.1406C>T c.(1405-1407)cCg>cTg p.P469L GBMLGG 6 105244881 105244881 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:105244881C>A c.637G>T c.(637-639)Gca>Tca p.A213S GBMLGG 6 105291136 105291136 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:105291136C>T c.364G>A c.(364-366)Gct>Act p.A122T GBMLGG 6 105300205 105300205 + Missense_Mutation SNP C C T TCGA-TM-A7C4-01A-11D-A32B-08 TCGA-TM-A7C4-10A-01D-A329-08 g.chr6:105300205C>T c.118G>A c.(118-120)Gct>Act p.A40T HNSC 6 105178206 105178206 + Missense_Mutation SNP G G A TCGA-CV-A463-01A-11D-A25Y-08 TCGA-CV-A463-10A-01D-A25Y-08 g.chr6:105178206G>A c.2599C>T c.(2599-2601)Cca>Tca p.P867S HNSC 6 105198279 105198279 + Silent SNP A A G TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr6:105198279A>G c.2280T>C c.(2278-2280)ttT>ttC p.F760F HNSC 6 105224670 105224670 + Silent SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr6:105224670G>A c.1810C>T c.(1810-1812)Ctg>Ttg p.L604L HNSC 6 105224986 105224986 + Splice_Site SNP C C G TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 g.chr6:105224986C>G c.e16-1 HNSC 6 105232953 105232953 + Missense_Mutation SNP G G C TCGA-CN-6994-01A-11D-1912-08 TCGA-CN-6994-10A-01D-1912-08 g.chr6:105232953G>C c.1316C>G c.(1315-1317)gCa>gGa p.A439G HNSC 6 105233004 105233004 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 g.chr6:105233004C>T c.1265G>A c.(1264-1266)gGc>gAc p.G422D HNSC 6 105233028 105233028 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr6:105233028C>T c.1241G>A c.(1240-1242)gGg>gAg p.G414E HNSC 6 105239524 105239524 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 g.chr6:105239524G>A c.929C>T c.(928-930)tCt>tTt p.S310F HNSC 6 105243517 105243517 + Missense_Mutation SNP T T C TCGA-CN-4739-01A-02D-1512-08 TCGA-CN-4739-10A-01D-1512-08 g.chr6:105243517T>C c.860A>G c.(859-861)cAg>cGg p.Q287R HNSC 6 105281023 105281023 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 g.chr6:105281023C>T c.428G>A c.(427-429)cGg>cAg p.R143Q KIPAN 6 105192486 105192486 + Splice_Site SNP C C A TCGA-A3-3385-01A-02D-1421-08 TCGA-A3-3385-11A-01D-1421-08 g.chr6:105192486C>A c.e21-1 KIPAN 6 105233140 105233140 + Nonsense_Mutation SNP C C A TCGA-CZ-5462-01A-01D-1501-10 TCGA-CZ-5462-11A-01D-1501-10 g.chr6:105233140C>A c.1129G>T c.(1129-1131)Gaa>Taa p.E377* KIPAN 6 105298826 105298826 + Silent SNP A A G TCGA-B8-4620-01A-02D-1386-10 TCGA-B8-4620-10A-01D-1251-10 g.chr6:105298826A>G c.177T>C c.(175-177)taT>taC p.Y59Y KIPAN 6 105298839 105298839 + Missense_Mutation SNP A A T TCGA-B9-A44B-01A-11D-A25F-10 TCGA-B9-A44B-10A-01D-A25F-10 g.chr6:105298839A>T c.164T>A c.(163-165)tTt>tAt p.F55Y KIRC 6 105192486 105192486 + Splice_Site SNP C C A TCGA-A3-3385-01A-02D-1421-08 TCGA-A3-3385-11A-01D-1421-08 g.chr6:105192486C>A c.e21-1 KIRC 6 105233140 105233140 + Nonsense_Mutation SNP C C A TCGA-CZ-5462-01A-01D-1501-10 TCGA-CZ-5462-11A-01D-1501-10 g.chr6:105233140C>A c.1129G>T c.(1129-1131)Gaa>Taa p.E377* KIRC 6 105298826 105298826 + Silent SNP A A G TCGA-B8-4620-01A-02D-1386-10 TCGA-B8-4620-10A-01D-1251-10 g.chr6:105298826A>G c.177T>C c.(175-177)taT>taC p.Y59Y KIRP 6 105298839 105298839 + Missense_Mutation SNP A A T TCGA-B9-A44B-01A-11D-A25F-10 TCGA-B9-A44B-10A-01D-A25F-10 g.chr6:105298839A>T c.164T>A c.(163-165)tTt>tAt p.F55Y LGG 6 105177553 105177553 + Missense_Mutation SNP C C T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 g.chr6:105177553C>T c.2714G>A c.(2713-2715)gGt>gAt p.G905D LGG 6 105232863 105232863 + Missense_Mutation SNP G G A TCGA-DU-5852-01A-11D-1705-08 TCGA-DU-5852-10A-01D-1705-08 g.chr6:105232863G>A c.1406C>T c.(1405-1407)cCg>cTg p.P469L LGG 6 105244881 105244881 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:105244881C>A c.637G>T c.(637-639)Gca>Tca p.A213S LGG 6 105291136 105291136 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:105291136C>T c.364G>A c.(364-366)Gct>Act p.A122T LGG 6 105300205 105300205 + Missense_Mutation SNP C C T TCGA-TM-A7C4-01A-11D-A32B-08 TCGA-TM-A7C4-10A-01D-A329-08 g.chr6:105300205C>T c.118G>A c.(118-120)Gct>Act p.A40T LIHC 6 105198277 105198277 + Frame_Shift_Del DEL A A - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr6:105198277delA c.2282delT c.(2281-2283)ttafs p.L761fs LIHC 6 105244550 105244550 + Missense_Mutation SNP C C T TCGA-CC-A3MA-01A-11D-A20W-10 TCGA-CC-A3MA-10A-01D-A20W-10 g.chr6:105244550C>T c.796G>A c.(796-798)Gaa>Aaa p.E266K LIHC 6 105259252 105259252 + Missense_Mutation SNP A A G TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr6:105259252A>G c.551T>C c.(550-552)cTa>cCa p.L184P LUAD 6 105192070 105192070 + Silent SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 g.chr6:105192070C>T c.2478G>A c.(2476-2478)gaG>gaA p.E826E LUAD 6 105192075 105192075 + Nonsense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 g.chr6:105192075G>A c.2473C>T c.(2473-2475)Caa>Taa p.Q825* LUAD 6 105219114 105219114 + Missense_Mutation SNP G G C TCGA-L9-A443-01A-12D-A24D-08 TCGA-L9-A443-10A-01D-A24F-08 g.chr6:105219114G>C c.2165C>G c.(2164-2166)cCt>cGt p.P722R LUAD 6 105219187 105219187 + Missense_Mutation SNP C C T TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr6:105219187C>T c.2092G>A c.(2092-2094)Gat>Aat p.D698N LUAD 6 105224973 105224973 + Missense_Mutation SNP C C G TCGA-44-8119-01A-11D-2238-08 TCGA-44-8119-10A-01D-2238-08 g.chr6:105224973C>G c.1691G>C c.(1690-1692)aGg>aCg p.R564T LUAD 6 105231977 105231977 + Missense_Mutation SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr6:105231977T>A c.1550A>T c.(1549-1551)cAt>cTt p.H517L LUAD 6 105231991 105231991 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 g.chr6:105231991C>T c.1536G>A c.(1534-1536)atG>atA p.M512I LUAD 6 105233031 105233031 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 g.chr6:105233031G>A c.1238C>T c.(1237-1239)cCt>cTt p.P413L LUAD 6 105239521 105239521 + Missense_Mutation SNP C C A TCGA-55-A491-01A-11D-A24D-08 TCGA-55-A491-10A-01D-A24F-08 g.chr6:105239521C>A c.932G>T c.(931-933)aGc>aTc p.S311I LUAD 6 105243556 105243556 + Missense_Mutation SNP C C A TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chr6:105243556C>A c.821G>T c.(820-822)cGg>cTg p.R274L LUAD 6 105280922 105280922 + Nonsense_Mutation SNP T T A TCGA-44-A47A-01A-21D-A24D-08 TCGA-44-A47A-10A-01D-A24F-08 g.chr6:105280922T>A c.529A>T c.(529-531)Aag>Tag p.K177* LUAD 6 105300216 105300216 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr6:105300216G>A c.107C>T c.(106-108)cCa>cTa p.P36L LUSC 6 105177550 105177550 + Missense_Mutation SNP T T C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 g.chr6:105177550T>C c.2717A>G c.(2716-2718)tAc>tGc p.Y906C LUSC 6 105219851 105219851 + Missense_Mutation SNP T T A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 g.chr6:105219851T>A c.1963A>T c.(1963-1965)Agg>Tgg p.R655W LUSC 6 105219949 105219949 + Splice_Site SNP C C A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 g.chr6:105219949C>A c.1865G>T c.(1864-1866)gGa>gTa p.G622V LUSC 6 105224980 105224980 + Missense_Mutation SNP T T G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 g.chr6:105224980T>G c.1684A>C c.(1684-1686)Att>Ctt p.I562L LUSC 6 105233141 105233141 + Silent SNP T T A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 g.chr6:105233141T>A c.1128A>T c.(1126-1128)acA>acT p.T376T LUSC 6 105259227 105259227 + Missense_Mutation SNP C C A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 g.chr6:105259227C>A c.576G>T c.(574-576)agG>agT p.R192S LUSC 6 105281021 105281021 + Missense_Mutation SNP T T C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 g.chr6:105281021T>C c.430A>G c.(430-432)Aca>Gca p.T144A OV 6 105178187 105178187 + Missense_Mutation SNP G G A TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 g.chr6:105178187G>A c.2618C>T c.(2617-2619)tCa>tTa p.S873L OV 6 105198338 105198338 + Missense_Mutation SNP C C G TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 g.chr6:105198338C>G c.2221G>C c.(2221-2223)Gtc>Ctc p.V741L OV 6 105244592 105244592 + Missense_Mutation SNP G G T TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 g.chr6:105244592G>T c.754C>A c.(754-756)Cac>Aac p.H252N OV 6 105280966 105280966 + Missense_Mutation SNP G G A TCGA-23-1027-01A-02W-0486-08 TCGA-23-1027-10A-01W-0486-08 g.chr6:105280966G>A c.485C>T c.(484-486)gCc>gTc p.A162V OV 6 105291160 105291160 + Missense_Mutation SNP T T C TCGA-04-1331-01A-01W-0486-08 TCGA-04-1331-10A-01W-0486-08 g.chr6:105291160T>C c.340A>G c.(340-342)Atg>Gtg p.M114V PAAD 6 105198220 105198220 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:105198220T>G c.2339A>C c.(2338-2340)gAa>gCa p.E780A PAAD 6 105198307 105198307 + Missense_Mutation SNP C C G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 g.chr6:105198307C>G c.2252G>C c.(2251-2253)aGa>aCa p.R751T PAAD 6 105198346 105198346 + Splice_Site SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:105198346G>A c.2213C>T c.(2212-2214)gCg>gTg p.A738V PRAD 6 105231961 105231961 + Splice_Site SNP C C A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr6:105231961C>A c.1566G>T c.(1564-1566)caG>caT p.Q522H READ 6 105233165 105233165 + Silent SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:105233165A>G c.1104T>C c.(1102-1104)gaT>gaC p.D368D READ 6 105244595 105244595 + Missense_Mutation SNP A A G TCGA-AG-A026-01A-32W-A096-10 TCGA-AG-A026-10A-01W-A096-10 g.chr6:105244595A>G c.751T>C c.(751-753)Tat>Cat p.Y251H READ 6 105259193 105259193 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:105259193C>T c.610G>A c.(610-612)Gct>Act p.A204T READ 6 105291167 105291167 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:105291167C>A c.333G>T c.(331-333)aaG>aaT p.K111N READ 6 105297107 105297107 + Missense_Mutation SNP T T A TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr6:105297107T>A c.236A>T c.(235-237)gAa>gTa p.E79V SARC 6 105219148 105219148 + Missense_Mutation SNP C C G TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 g.chr6:105219148C>G c.2131G>C c.(2131-2133)Gag>Cag p.E711Q SKCM 6 105178179 105178179 + Splice_Site SNP A A G TCGA-EE-A2GT-06A-12D-A197-08 TCGA-EE-A2GT-10A-01D-A199-08 g.chr6:105178179A>G c.2626T>C c.(2626-2628)Tgc>Cgc p.C876R SKCM 6 105192055 105192055 + Silent SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr6:105192055G>A c.2493C>T c.(2491-2493)ctC>ctT p.L831L SKCM 6 105198250 105198250 + Missense_Mutation SNP G G A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 g.chr6:105198250G>A c.2309C>T c.(2308-2310)cCc>cTc p.P770L SKCM 6 105198315 105198315 + Silent SNP T T C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr6:105198315T>C c.2244A>G c.(2242-2244)cgA>cgG p.R748R SKCM 6 105198317 105198317 + Nonsense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr6:105198317G>A c.2242C>T c.(2242-2244)Cga>Tga p.R748* SKCM 6 105219820 105219820 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr6:105219820G>A c.1994C>T c.(1993-1995)tCc>tTc p.S665F SKCM 6 105232044 105232044 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 g.chr6:105232044G>A c.1483C>T c.(1483-1485)Ccc>Tcc p.P495S SKCM 6 105233061 105233061 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 g.chr6:105233061G>A c.1208C>T c.(1207-1209)gCt>gTt p.A403V SKCM 6 105243490 105243490 + Missense_Mutation SNP G G A TCGA-EE-A29Q-06A-11D-A197-08 TCGA-EE-A29Q-10A-01D-A199-08 g.chr6:105243490G>A c.887C>T c.(886-888)gCt>gTt p.A296V SKCM 6 105244589 105244589 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr6:105244589G>A c.757C>T c.(757-759)Ccg>Tcg p.P253S SKCM 6 105280966 105280966 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 g.chr6:105280966G>A c.485C>T c.(484-486)gCc>gTc p.A162V

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 6 105178258 105178258 single base substitution G A 3_prime_UTR_variant BLCA-CN 6 105178258 105178258 single base substitution G A exon_variant BLCA-CN 6 105178258 105178258 single base substitution G A synonymous_variant I239I 717C>T BLCA-CN 6 105178258 105178258 single base substitution G A synonymous_variant I268I 804C>T BLCA-CN 6 105178258 105178258 single base substitution G A synonymous_variant I634I 1902C>T BLCA-CN 6 105178258 105178258 single base substitution G A synonymous_variant I849I 2547C>T BLCA-CN 6 105291172 105291172 single base substitution G A splice_region_variant BLCA-CN 6 105291172 105291172 single base substitution G A stop_gained Q110* 328C>T BLCA-CN 6 105291172 105291172 single base substitution G A stop_gained Q76* 226C>T BLCA-US 6 105198288 105198288 single base substitution G C 3_prime_UTR_variant BLCA-US 6 105198288 105198288 single base substitution G C exon_variant BLCA-US 6 105198288 105198288 single base substitution G C intron_variant BLCA-US 6 105198288 105198288 single base substitution G C missense_variant I542M 1626C>G BLCA-US 6 105198288 105198288 single base substitution G C missense_variant I757M 2271C>G BLCA-US 6 105225170 105225170 single base substitution C T 3_prime_UTR_variant BLCA-US 6 105225170 105225170 single base substitution C T exon_variant BLCA-US 6 105225170 105225170 single base substitution C T intron_variant BLCA-US 6 105225170 105225170 single base substitution C T stop_gained W12* 35G>A BLCA-US 6 105225170 105225170 single base substitution C T stop_gained W530* 1589G>A BLCA-US 6 105225170 105225170 single base substitution C T upstream_gene_variant BOCA-FR 6 105177928 105177928 single base substitution C A intron_variant BOCA-FR 6 105227950 105227950 single base substitution G C intron_variant BOCA-FR 6 105227950 105227950 single base substitution G C upstream_gene_variant BRCA-EU 6 105171772 105171772 single base substitution T C downstream_gene_variant BRCA-EU 6 105174115 105174115 single base substitution G C downstream_gene_variant BRCA-EU 6 105177916 105177916 single base substitution C T intron_variant BRCA-EU 6 105178706 105178706 single base substitution A G exon_variant BRCA-EU 6 105178706 105178706 single base substitution A G intron_variant BRCA-EU 6 105178896 105178898 deletion of <=200bp ATA - exon_variant BRCA-EU 6 105178896 105178898 deletion of <=200bp ATA - intron_variant BRCA-EU 6 105178897 105178897 single base substitution T A exon_variant BRCA-EU 6 105178897 105178897 single base substitution T A intron_variant BRCA-EU 6 105178898 105178898 single base substitution A G exon_variant BRCA-EU 6 105178898 105178898 single base substitution A G intron_variant BRCA-EU 6 105178900 105178900 single base substitution T G exon_variant BRCA-EU 6 105178900 105178900 single base substitution T G intron_variant BRCA-EU 6 105179191 105179191 single base substitution G C exon_variant BRCA-EU 6 105179191 105179191 single base substitution G C intron_variant BRCA-EU 6 105182536 105182536 single base substitution T G intron_variant BRCA-EU 6 105182536 105182536 single base substitution T G upstream_gene_variant BRCA-EU 6 105183952 105183952 deletion of <=200bp T - intron_variant BRCA-EU 6 105183952 105183952 deletion of <=200bp T - upstream_gene_variant BRCA-EU 6 105184521 105184521 single base substitution C T intron_variant BRCA-EU 6 105184521 105184521 single base substitution C T upstream_gene_variant BRCA-EU 6 105184554 105184554 single base substitution A T intron_variant BRCA-EU 6 105184554 105184554 single base substitution A T upstream_gene_variant BRCA-EU 6 105184829 105184829 single base substitution G C intron_variant BRCA-EU 6 105184829 105184829 single base substitution G C upstream_gene_variant BRCA-EU 6 105185027 105185027 single base substitution C T intron_variant BRCA-EU 6 105185027 105185027 single base substitution C T upstream_gene_variant BRCA-EU 6 105185349 105185349 single base substitution C T intron_variant BRCA-EU 6 105185644 105185644 single base substitution C G intron_variant BRCA-EU 6 105191191 105191191 single base substitution A G intron_variant BRCA-EU 6 105195903 105195903 single base substitution C T intron_variant BRCA-EU 6 105195979 105195979 insertion of <=200bp - A intron_variant BRCA-EU 6 105196849 105196849 single base substitution C G intron_variant BRCA-EU 6 105197841 105197841 single base substitution G A intron_variant BRCA-EU 6 105198122 105198122 single base substitution C A intron_variant BRCA-EU 6 105199102 105199102 single base substitution A T intron_variant BRCA-EU 6 105199269 105199269 single base substitution T A intron_variant BRCA-EU 6 105200774 105200774 single base substitution T C intron_variant BRCA-EU 6 105201835 105201835 single base substitution G T intron_variant BRCA-EU 6 105202176 105202176 single base substitution G C intron_variant BRCA-EU 6 105205719 105205719 single base substitution G C intron_variant BRCA-EU 6 105205835 105205835 single base substitution A C intron_variant BRCA-EU 6 105206851 105206851 single base substitution A G intron_variant BRCA-EU 6 105207204 105207204 single base substitution A C intron_variant BRCA-EU 6 105208061 105208061 single base substitution T C intron_variant BRCA-EU 6 105208127 105208127 single base substitution G T intron_variant BRCA-EU 6 105208169 105208169 single base substitution A C intron_variant BRCA-EU 6 105208390 105208390 single base substitution C T intron_variant BRCA-EU 6 105209884 105209884 single base substitution A G intron_variant BRCA-EU 6 105209948 105209948 single base substitution A C intron_variant BRCA-EU 6 105210987 105210987 single base substitution A C intron_variant BRCA-EU 6 105211224 105211224 single base substitution C T intron_variant BRCA-EU 6 105211934 105211934 deletion of <=200bp A - intron_variant BRCA-EU 6 105211937 105211937 single base substitution A C intron_variant BRCA-EU 6 105212408 105212411 deletion of <=200bp TCTT - intron_variant BRCA-EU 6 105213253 105213253 single base substitution C G intron_variant BRCA-EU 6 105213298 105213298 single base substitution A C intron_variant BRCA-EU 6 105215341 105215341 single base substitution G A intron_variant BRCA-EU 6 105217403 105217403 single base substitution A T intron_variant BRCA-EU 6 105217720 105217720 insertion of <=200bp - T intron_variant BRCA-EU 6 105217941 105217941 single base substitution G A intron_variant BRCA-EU 6 105218166 105218166 single base substitution C T intron_variant BRCA-EU 6 105218835 105218835 single base substitution G A intron_variant BRCA-EU 6 105221491 105221491 deletion of <=200bp T - intron_variant BRCA-EU 6 105222970 105222970 single base substitution A C intron_variant BRCA-EU 6 105224078 105224078 single base substitution T A intron_variant BRCA-EU 6 105225199 105225199 single base substitution C G intron_variant BRCA-EU 6 105225199 105225199 single base substitution C G splice_region_variant BRCA-EU 6 105225199 105225199 single base substitution C G upstream_gene_variant BRCA-EU 6 105226450 105226450 single base substitution G A intron_variant BRCA-EU 6 105226450 105226450 single base substitution G A upstream_gene_variant BRCA-EU 6 105227065 105227065 single base substitution G C intron_variant BRCA-EU 6 105227065 105227065 single base substitution G C upstream_gene_variant BRCA-EU 6 105227099 105227099 single base substitution A G intron_variant BRCA-EU 6 105227099 105227099 single base substitution A G upstream_gene_variant BRCA-EU 6 105227489 105227489 single base substitution C G intron_variant BRCA-EU 6 105227489 105227489 single base substitution C G upstream_gene_variant BRCA-EU 6 105230755 105230755 single base substitution C G intron_variant BRCA-EU 6 105230755 105230755 single base substitution C G upstream_gene_variant BRCA-EU 6 105231298 105231298 single base substitution G C intron_variant BRCA-EU 6 105231298 105231298 single base substitution G C upstream_gene_variant BRCA-EU 6 105233018 105233018 single base substitution T C 3_prime_UTR_variant BRCA-EU 6 105233018 105233018 single base substitution T C exon_variant BRCA-EU 6 105233018 105233018 single base substitution T C synonymous_variant E417E 1251A>G BRCA-EU 6 105233018 105233018 single base substitution T C upstream_gene_variant BRCA-EU 6 105233675 105233675 single base substitution C A exon_variant BRCA-EU 6 105233675 105233675 single base substitution C A intron_variant BRCA-EU 6 105233675 105233675 single base substitution C A upstream_gene_variant BRCA-EU 6 105233817 105233817 single base substitution G A exon_variant BRCA-EU 6 105233817 105233817 single base substitution G A intron_variant BRCA-EU 6 105233817 105233817 single base substitution G A upstream_gene_variant BRCA-EU 6 105234123 105234123 single base substitution G A exon_variant BRCA-EU 6 105234123 105234123 single base substitution G A intron_variant BRCA-EU 6 105234123 105234123 single base substitution G A upstream_gene_variant BRCA-EU 6 105235568 105235568 single base substitution A C intron_variant BRCA-EU 6 105235568 105235568 single base substitution A C upstream_gene_variant BRCA-EU 6 105235789 105235789 single base substitution G A intron_variant BRCA-EU 6 105235789 105235789 single base substitution G A upstream_gene_variant BRCA-EU 6 105236118 105236118 single base substitution G A intron_variant BRCA-EU 6 105236118 105236118 single base substitution G A upstream_gene_variant BRCA-EU 6 105237699 105237699 single base substitution C T intron_variant BRCA-EU 6 105237699 105237699 single base substitution C T upstream_gene_variant BRCA-EU 6 105237928 105237928 single base substitution G A intron_variant BRCA-EU 6 105237928 105237928 single base substitution G A upstream_gene_variant BRCA-EU 6 105237949 105237949 single base substitution A G intron_variant BRCA-EU 6 105237949 105237949 single base substitution A G upstream_gene_variant BRCA-EU 6 105238030 105238030 insertion of <=200bp - T intron_variant BRCA-EU 6 105238030 105238030 insertion of <=200bp - T upstream_gene_variant BRCA-EU 6 105242482 105242482 single base substitution C T downstream_gene_variant BRCA-EU 6 105242482 105242482 single base substitution C T intron_variant BRCA-EU 6 105242536 105242536 single base substitution T C downstream_gene_variant BRCA-EU 6 105242536 105242536 single base substitution T C intron_variant BRCA-EU 6 105243045 105243045 single base substitution G A downstream_gene_variant BRCA-EU 6 105243045 105243045 single base substitution G A intron_variant BRCA-EU 6 105244628 105244628 single base substitution C T 3_prime_UTR_variant BRCA-EU 6 105244628 105244628 single base substitution C T missense_variant G196R 586G>A BRCA-EU 6 105244628 105244628 single base substitution C T missense_variant G240R 718G>A BRCA-EU 6 105245290 105245290 single base substitution C G intron_variant BRCA-EU 6 105247095 105247095 single base substitution G A intron_variant BRCA-EU 6 105248380 105248380 single base substitution G A intron_variant BRCA-EU 6 105250805 105250805 single base substitution T C intron_variant BRCA-EU 6 105250979 105250979 single base substitution G C intron_variant BRCA-EU 6 105252155 105252155 single base substitution C G intron_variant BRCA-EU 6 105252342 105252342 single base substitution C A intron_variant BRCA-EU 6 105253742 105253742 insertion of <=200bp - A intron_variant BRCA-EU 6 105254436 105254436 single base substitution C G intron_variant BRCA-EU 6 105254767 105254767 single base substitution G C intron_variant BRCA-EU 6 105254894 105254894 deletion of <=200bp C - intron_variant BRCA-EU 6 105255083 105255083 single base substitution G C intron_variant BRCA-EU 6 105255580 105255581 deletion of <=200bp AA - intron_variant BRCA-EU 6 105255697 105255697 single base substitution G A intron_variant BRCA-EU 6 105256099 105256099 single base substitution G C intron_variant BRCA-EU 6 105258056 105258056 single base substitution G C intron_variant BRCA-EU 6 105258128 105258128 single base substitution G A intron_variant BRCA-EU 6 105259558 105259558 single base substitution G T intron_variant BRCA-EU 6 105259899 105259899 single base substitution T G intron_variant BRCA-EU 6 105262626 105262626 single base substitution C A intron_variant BRCA-EU 6 105263520 105263520 single base substitution G C intron_variant BRCA-EU 6 105264627 105264627 single base substitution G T intron_variant BRCA-EU 6 105266187 105266187 single base substitution G A intron_variant BRCA-EU 6 105266381 105266381 single base substitution G A intron_variant BRCA-EU 6 105266920 105266920 single base substitution C G intron_variant BRCA-EU 6 105266930 105266930 deletion of <=200bp A - intron_variant BRCA-EU 6 105267795 105267795 single base substitution G T intron_variant BRCA-EU 6 105267962 105267962 single base substitution C A intron_variant BRCA-EU 6 105268626 105268626 single base substitution A G intron_variant BRCA-EU 6 105268632 105268632 single base substitution G T intron_variant BRCA-EU 6 105268983 105268983 single base substitution C A intron_variant BRCA-EU 6 105269467 105269470 deletion of <=200bp ATGC - intron_variant BRCA-EU 6 105269808 105269808 single base substitution A G intron_variant BRCA-EU 6 105271413 105271413 single base substitution C G intron_variant BRCA-EU 6 105271578 105271578 single base substitution T C intron_variant BRCA-EU 6 105271623 105271623 single base substitution C G intron_variant BRCA-EU 6 105272192 105272192 single base substitution A G intron_variant BRCA-EU 6 105272723 105272723 single base substitution C T 3_prime_UTR_variant BRCA-EU 6 105272723 105272723 single base substitution C T intron_variant BRCA-EU 6 105273234 105273234 single base substitution C A intron_variant BRCA-EU 6 105273343 105273343 single base substitution A G intron_variant BRCA-EU 6 105275920 105275920 single base substitution G A intron_variant BRCA-EU 6 105276716 105276716 single base substitution G T downstream_gene_variant BRCA-EU 6 105276716 105276716 single base substitution G T intron_variant BRCA-EU 6 105277122 105277122 single base substitution A G downstream_gene_variant BRCA-EU 6 105277122 105277122 single base substitution A G intron_variant BRCA-EU 6 105277640 105277640 single base substitution C T downstream_gene_variant BRCA-EU 6 105277640 105277640 single base substitution C T intron_variant BRCA-EU 6 105278157 105278157 insertion of <=200bp - T downstream_gene_variant BRCA-EU 6 105278157 105278157 insertion of <=200bp - T intron_variant BRCA-EU 6 105278198 105278198 single base substitution G T downstream_gene_variant BRCA-EU 6 105278198 105278198 single base substitution G T intron_variant BRCA-EU 6 105278253 105278253 single base substitution C G downstream_gene_variant BRCA-EU 6 105278253 105278253 single base substitution C G intron_variant BRCA-EU 6 105279771 105279774 deletion of <=200bp AAAG - downstream_gene_variant BRCA-EU 6 105279771 105279774 deletion of <=200bp AAAG - intron_variant BRCA-EU 6 105279772 105279772 single base substitution A G downstream_gene_variant BRCA-EU 6 105279772 105279772 single base substitution A G intron_variant BRCA-EU 6 105280163 105280163 single base substitution A G downstream_gene_variant BRCA-EU 6 105280163 105280163 single base substitution A G intron_variant BRCA-EU 6 105281853 105281853 single base substitution C T intron_variant BRCA-EU 6 105283201 105283201 single base substitution G A intron_variant BRCA-EU 6 105283570 105283570 single base substitution T A intron_variant BRCA-EU 6 105283640 105283640 single base substitution G C intron_variant BRCA-EU 6 105284156 105284156 single base substitution C T intron_variant BRCA-EU 6 105284390 105284390 single base substitution C A intron_variant BRCA-EU 6 105287136 105287136 single base substitution G C downstream_gene_variant BRCA-EU 6 105287136 105287136 single base substitution G C intron_variant BRCA-EU 6 105288826 105288826 single base substitution G A downstream_gene_variant BRCA-EU 6 105288826 105288826 single base substitution G A intron_variant BRCA-EU 6 105290559 105290559 single base substitution G C downstream_gene_variant BRCA-EU 6 105290559 105290559 single base substitution G C intron_variant BRCA-EU 6 105291210 105291210 deletion of <=200bp A - intron_variant BRCA-EU 6 105293048 105293048 single base substitution G C intron_variant BRCA-EU 6 105294847 105294847 single base substitution G A intron_variant BRCA-EU 6 105295631 105295631 deletion of <=200bp A - intron_variant BRCA-EU 6 105295663 105295663 single base substitution G A intron_variant BRCA-EU 6 105295681 105295681 single base substitution T G intron_variant BRCA-EU 6 105295958 105295958 single base substitution C A intron_variant BRCA-EU 6 105296119 105296119 single base substitution T A intron_variant BRCA-EU 6 105296666 105296666 single base substitution G C intron_variant BRCA-EU 6 105297457 105297457 single base substitution A G intron_variant BRCA-EU 6 105300020 105300020 single base substitution A C intron_variant BRCA-EU 6 105300283 105300283 single base substitution A T intron_variant BRCA-EU 6 105300761 105300761 single base substitution T G intron_variant BRCA-EU 6 105301920 105301920 single base substitution G A intron_variant BRCA-EU 6 105302183 105302183 single base substitution T C intron_variant BRCA-EU 6 105302776 105302776 single base substitution A G intron_variant BRCA-EU 6 105304113 105304113 deletion of <=200bp A - intron_variant BRCA-EU 6 105304766 105304766 single base substitution T C intron_variant BRCA-EU 6 105304850 105304850 single base substitution G A intron_variant BRCA-EU 6 105305412 105305412 single base substitution T C intron_variant BRCA-EU 6 105305551 105305551 single base substitution C A intron_variant BRCA-EU 6 105307552 105307552 single base substitution C A 5_prime_UTR_variant BRCA-EU 6 105307552 105307552 single base substitution C A upstream_gene_variant BRCA-EU 6 105308314 105308314 single base substitution A G upstream_gene_variant BRCA-EU 6 105308578 105308586 deletion of <=200bp AAAGGGGTA - upstream_gene_variant BRCA-EU 6 105309951 105309951 single base substitution C T upstream_gene_variant BRCA-EU 6 105310360 105310360 single base substitution C T upstream_gene_variant BRCA-EU 6 105310554 105310554 single base substitution C T upstream_gene_variant BRCA-EU 6 105310587 105310587 single base substitution T G upstream_gene_variant BRCA-EU 6 105311780 105311780 single base substitution C T upstream_gene_variant BRCA-FR 6 105184521 105184521 single base substitution C T intron_variant BRCA-FR 6 105184521 105184521 single base substitution C T upstream_gene_variant BRCA-FR 6 105190866 105190866 single base substitution G T intron_variant BRCA-FR 6 105191320 105191320 single base substitution T C intron_variant BRCA-FR 6 105197841 105197841 single base substitution G A intron_variant BRCA-FR 6 105198122 105198122 single base substitution C A intron_variant BRCA-FR 6 105218166 105218166 single base substitution C T intron_variant BRCA-FR 6 105224078 105224078 single base substitution T A intron_variant BRCA-FR 6 105234123 105234123 single base substitution G A exon_variant BRCA-FR 6 105234123 105234123 single base substitution G A intron_variant BRCA-FR 6 105234123 105234123 single base substitution G A upstream_gene_variant BRCA-FR 6 105242482 105242482 single base substitution C T downstream_gene_variant BRCA-FR 6 105242482 105242482 single base substitution C T intron_variant BRCA-FR 6 105244628 105244628 single base substitution C T 3_prime_UTR_variant BRCA-FR 6 105244628 105244628 single base substitution C T missense_variant G196R 586G>A BRCA-FR 6 105244628 105244628 single base substitution C T missense_variant G240R 718G>A BRCA-FR 6 105248380 105248380 single base substitution G A intron_variant BRCA-FR 6 105252155 105252155 single base substitution C G intron_variant BRCA-FR 6 105254767 105254767 single base substitution G C intron_variant BRCA-FR 6 105255083 105255083 single base substitution G C intron_variant BRCA-FR 6 105256099 105256099 single base substitution G C intron_variant BRCA-FR 6 105263520 105263520 single base substitution G C intron_variant BRCA-FR 6 105266187 105266187 single base substitution G A intron_variant BRCA-FR 6 105266381 105266381 single base substitution G A intron_variant BRCA-FR 6 105270092 105270092 single base substitution A T intron_variant BRCA-FR 6 105275920 105275920 single base substitution G A intron_variant BRCA-FR 6 105278583 105278583 single base substitution G A downstream_gene_variant BRCA-FR 6 105278583 105278583 single base substitution G A intron_variant BRCA-FR 6 105283640 105283640 single base substitution G C intron_variant BRCA-FR 6 105310587 105310587 single base substitution T G upstream_gene_variant BRCA-KR 6 105280891 105280891 single base substitution C T downstream_gene_variant BRCA-KR 6 105280891 105280891 single base substitution C T intron_variant BRCA-UK 6 105186748 105186748 single base substitution C T intron_variant BRCA-UK 6 105187102 105187102 single base substitution G C intron_variant BRCA-UK 6 105210987 105210987 single base substitution A C intron_variant BRCA-UK 6 105230755 105230755 single base substitution C G intron_variant BRCA-UK 6 105230755 105230755 single base substitution C G upstream_gene_variant BRCA-UK 6 105245015 105245015 single base substitution G C intron_variant BRCA-UK 6 105258056 105258056 single base substitution G C intron_variant BRCA-UK 6 105259558 105259558 single base substitution G T intron_variant BRCA-UK 6 105262224 105262224 single base substitution C T intron_variant BRCA-UK 6 105277122 105277122 single base substitution A G downstream_gene_variant BRCA-UK 6 105277122 105277122 single base substitution A G intron_variant BRCA-UK 6 105277305 105277305 single base substitution G A downstream_gene_variant BRCA-UK 6 105277305 105277305 single base substitution G A intron_variant BRCA-UK 6 105293023 105293023 single base substitution G C intron_variant BRCA-US 6 105198288 105198288 single base substitution G A 3_prime_UTR_variant BRCA-US 6 105198288 105198288 single base substitution G A exon_variant BRCA-US 6 105198288 105198288 single base substitution G A intron_variant BRCA-US 6 105198288 105198288 single base substitution G A synonymous_variant I542I 1626C>T BRCA-US 6 105198288 105198288 single base substitution G A synonymous_variant I757I 2271C>T BRCA-US 6 105219210 105219210 single base substitution T A 3_prime_UTR_variant BRCA-US 6 105219210 105219210 single base substitution T A exon_variant BRCA-US 6 105219210 105219210 single base substitution T A intron_variant BRCA-US 6 105219210 105219210 single base substitution T A missense_variant N124I 371A>T BRCA-US 6 105219210 105219210 single base substitution T A missense_variant N172I 515A>T BRCA-US 6 105219210 105219210 single base substitution T A missense_variant N690I 2069A>T BRCA-US 6 105224704 105224704 single base substitution C A intron_variant BRCA-US 6 105224704 105224704 single base substitution C A splice_acceptor_variant BRCA-US 6 105239459 105239459 single base substitution G A 3_prime_UTR_variant BRCA-US 6 105239459 105239459 single base substitution G A stop_gained R332* 994C>T BRCA-US 6 105239459 105239459 single base substitution G A upstream_gene_variant BRCA-US 6 105239507 105239507 single base substitution G C 3_prime_UTR_variant BRCA-US 6 105239507 105239507 single base substitution G C missense_variant Q316E 946C>G BRCA-US 6 105239507 105239507 single base substitution G C upstream_gene_variant BRCA-US 6 105243507 105243507 single base substitution C G 3_prime_UTR_variant BRCA-US 6 105243507 105243507 single base substitution C G downstream_gene_variant BRCA-US 6 105243507 105243507 single base substitution C G missense_variant K290N 870G>C BRCA-US 6 105244542 105244542 single base substitution G C 3_prime_UTR_variant BRCA-US 6 105244542 105244542 single base substitution G C downstream_gene_variant BRCA-US 6 105244542 105244542 single base substitution G C synonymous_variant L268L 804C>G BRCA-US 6 105291170 105291170 single base substitution C A 3_prime_UTR_variant BRCA-US 6 105291170 105291170 single base substitution C A exon_variant BRCA-US 6 105291170 105291170 single base substitution C A missense_variant Q110H 330G>T BRCA-US 6 105291170 105291170 single base substitution C A missense_variant Q76H 228G>T BTCA-JP 6 105177386 105177386 single base substitution A G 3_prime_UTR_variant BTCA-JP 6 105177386 105177386 single base substitution A G exon_variant BTCA-JP 6 105178244 105178244 single base substitution C A 3_prime_UTR_variant BTCA-JP 6 105178244 105178244 single base substitution C A exon_variant BTCA-JP 6 105178244 105178244 single base substitution C A missense_variant G244V 731G>T BTCA-JP 6 105178244 105178244 single base substitution C A missense_variant G273V 818G>T BTCA-JP 6 105178244 105178244 single base substitution C A missense_variant G639V 1916G>T BTCA-JP 6 105178244 105178244 single base substitution C A missense_variant G854V 2561G>T BTCA-JP 6 105192536 105192536 single base substitution T A intron_variant BTCA-JP 6 105198311 105198311 single base substitution T C 3_prime_UTR_variant BTCA-JP 6 105198311 105198311 single base substitution T C exon_variant BTCA-JP 6 105198311 105198311 single base substitution T C intron_variant BTCA-JP 6 105198311 105198311 single base substitution T C missense_variant T535A 1603A>G BTCA-JP 6 105198311 105198311 single base substitution T C missense_variant T750A 2248A>G BTCA-JP 6 105198410 105198413 deletion of <=200bp TAAT - intron_variant BTCA-JP 6 105219749 105219749 deletion of <=200bp A - intron_variant BTCA-JP 6 105219749 105219749 insertion of <=200bp - A intron_variant BTCA-JP 6 105228258 105228258 single base substitution G T 3_prime_UTR_variant BTCA-JP 6 105228258 105228258 single base substitution G T intron_variant BTCA-JP 6 105228258 105228258 single base substitution G T upstream_gene_variant BTCA-JP 6 105228348 105228350 deletion of <=200bp AGA - intron_variant BTCA-JP 6 105228348 105228350 deletion of <=200bp AGA - upstream_gene_variant BTCA-JP 6 105298770 105298770 single base substitution C G intron_variant BTCA-JP 6 105306475 105306475 single base substitution C T intron_variant CESC-US 6 105232900 105232900 single base substitution G A 3_prime_UTR_variant CESC-US 6 105232900 105232900 single base substitution G A exon_variant CESC-US 6 105232900 105232900 single base substitution G A stop_gained Q457* 1369C>T CESC-US 6 105232900 105232900 single base substitution G A upstream_gene_variant CLLE-ES 6 105177190 105177190 single base substitution C T 3_prime_UTR_variant CLLE-ES 6 105177190 105177190 single base substitution C T downstream_gene_variant CLLE-ES 6 105177190 105177190 single base substitution C T exon_variant CLLE-ES 6 105259112 105259112 single base substitution T C intron_variant CLLE-ES 6 105259585 105259585 single base substitution G A intron_variant CLLE-ES 6 105279859 105279859 deletion of <=200bp A - downstream_gene_variant CLLE-ES 6 105279859 105279859 deletion of <=200bp A - intron_variant CLLE-ES 6 105293914 105293914 single base substitution G A intron_variant CLLE-ES 6 105294042 105294042 single base substitution C A intron_variant COAD-US 6 105192108 105192110 deletion of <=200bp AAC - intron_variant COAD-US 6 105192108 105192110 deletion of <=200bp AAC - splice_region_variant COAD-US 6 105198267 105198267 single base substitution A G 3_prime_UTR_variant COAD-US 6 105198267 105198267 single base substitution A G exon_variant COAD-US 6 105198267 105198267 single base substitution A G intron_variant COAD-US 6 105198267 105198267 single base substitution A G synonymous_variant F549F 1647T>C COAD-US 6 105198267 105198267 single base substitution A G synonymous_variant F764F 2292T>C COAD-US 6 105198277 105198277 deletion of <=200bp A - 3_prime_UTR_variant COAD-US 6 105198277 105198277 deletion of <=200bp A - exon_variant COAD-US 6 105198277 105198277 deletion of <=200bp A - frameshift_variant L546 COAD-US 6 105198277 105198277 deletion of <=200bp A - frameshift_variant L761 COAD-US 6 105198277 105198277 deletion of <=200bp A - intron_variant COAD-US 6 105198346 105198346 single base substitution G A intron_variant COAD-US 6 105198346 105198346 single base substitution G A missense_variant A523V 1568C>T COAD-US 6 105198346 105198346 single base substitution G A missense_variant A738V 2213C>T COAD-US 6 105198346 105198346 single base substitution G A splice_region_variant COAD-US 6 105219258 105219258 single base substitution G T 3_prime_UTR_variant COAD-US 6 105219258 105219258 single base substitution G T exon_variant COAD-US 6 105219258 105219258 single base substitution G T intron_variant COAD-US 6 105219258 105219258 single base substitution G T missense_variant P108H 323C>A COAD-US 6 105219258 105219258 single base substitution G T missense_variant P156H 467C>A COAD-US 6 105219258 105219258 single base substitution G T missense_variant P674H 2021C>A COAD-US 6 105225086 105225086 single base substitution T C 3_prime_UTR_variant COAD-US 6 105225086 105225086 single base substitution T C exon_variant COAD-US 6 105225086 105225086 single base substitution T C intron_variant COAD-US 6 105225086 105225086 single base substitution T C missense_variant H40R 119A>G COAD-US 6 105225086 105225086 single base substitution T C missense_variant H558R 1673A>G COAD-US 6 105225086 105225086 single base substitution T C upstream_gene_variant COAD-US 6 105232918 105232918 single base substitution G A 3_prime_UTR_variant COAD-US 6 105232918 105232918 single base substitution G A exon_variant COAD-US 6 105232918 105232918 single base substitution G A missense_variant R451W 1351C>T COAD-US 6 105232918 105232918 single base substitution G A upstream_gene_variant COCA-CN 6 105174107 105174107 single base substitution A G downstream_gene_variant COCA-CN 6 105185245 105185245 single base substitution G A intron_variant COCA-CN 6 105185245 105185245 single base substitution G A upstream_gene_variant COCA-CN 6 105186870 105186870 single base substitution A G intron_variant COCA-CN 6 105189135 105189135 single base substitution C T intron_variant COCA-CN 6 105190082 105190082 single base substitution A C intron_variant COCA-CN 6 105204303 105204303 single base substitution T A intron_variant COCA-CN 6 105219211 105219211 single base substitution T C 3_prime_UTR_variant COCA-CN 6 105219211 105219211 single base substitution T C exon_variant COCA-CN 6 105219211 105219211 single base substitution T C intron_variant COCA-CN 6 105219211 105219211 single base substitution T C missense_variant N124D 370A>G COCA-CN 6 105219211 105219211 single base substitution T C missense_variant N172D 514A>G COCA-CN 6 105219211 105219211 single base substitution T C missense_variant N690D 2068A>G COCA-CN 6 105219313 105219313 single base substitution T A intron_variant COCA-CN 6 105219572 105219572 single base substitution C T intron_variant COCA-CN 6 105219573 105219573 single base substitution A T intron_variant COCA-CN 6 105244494 105244494 single base substitution T G downstream_gene_variant COCA-CN 6 105244494 105244494 single base substitution T G intron_variant COCA-CN 6 105246612 105246612 single base substitution G A intron_variant COCA-CN 6 105252758 105252758 single base substitution C T intron_variant COCA-CN 6 105259975 105259975 single base substitution A T intron_variant COCA-CN 6 105279235 105279235 single base substitution A G downstream_gene_variant COCA-CN 6 105279235 105279235 single base substitution A G intron_variant COCA-CN 6 105279863 105279863 single base substitution A G downstream_gene_variant COCA-CN 6 105279863 105279863 single base substitution A G intron_variant COCA-CN 6 105288927 105288927 single base substitution T C downstream_gene_variant COCA-CN 6 105288927 105288927 single base substitution T C intron_variant COCA-CN 6 105291137 105291137 single base substitution G A 3_prime_UTR_variant COCA-CN 6 105291137 105291137 single base substitution G A exon_variant COCA-CN 6 105291137 105291137 single base substitution G A synonymous_variant S121S 363C>T COCA-CN 6 105291137 105291137 single base substitution G A synonymous_variant S87S 261C>T COCA-CN 6 105299606 105299606 single base substitution A C intron_variant COCA-CN 6 105300074 105300074 single base substitution C G intron_variant COCA-CN 6 105306303 105306303 single base substitution C T 3_prime_UTR_variant COCA-CN 6 105306303 105306303 single base substitution C T intron_variant COCA-CN 6 105306349 105306349 single base substitution C T 3_prime_UTR_variant COCA-CN 6 105306349 105306349 single base substitution C T intron_variant COCA-CN 6 105306914 105306914 single base substitution A C intron_variant EOPC-DE 6 105193346 105193346 single base substitution G T intron_variant EOPC-DE 6 105218521 105218521 single base substitution G A intron_variant EOPC-DE 6 105291308 105291308 single base substitution T C intron_variant ESAD-UK 6 105171154 105171154 single base substitution T C downstream_gene_variant ESAD-UK 6 105171330 105171330 single base substitution T C downstream_gene_variant ESAD-UK 6 105171539 105171539 single base substitution G C downstream_gene_variant ESAD-UK 6 105172530 105172530 single base substitution G C downstream_gene_variant ESAD-UK 6 105172943 105172943 single base substitution A G downstream_gene_variant ESAD-UK 6 105173296 105173296 single base substitution T G downstream_gene_variant ESAD-UK 6 105173900 105173900 single base substitution G A downstream_gene_variant ESAD-UK 6 105174333 105174333 single base substitution A G downstream_gene_variant ESAD-UK 6 105174349 105174349 single base substitution G A downstream_gene_variant ESAD-UK 6 105175795 105175795 single base substitution C T downstream_gene_variant ESAD-UK 6 105176806 105176806 single base substitution C T 3_prime_UTR_variant ESAD-UK 6 105176806 105176806 single base substitution C T downstream_gene_variant ESAD-UK 6 105176806 105176806 single base substitution C T exon_variant ESAD-UK 6 105177830 105177830 single base substitution C A intron_variant ESAD-UK 6 105177847 105177847 single base substitution A C intron_variant ESAD-UK 6 105178321 105178321 single base substitution T C exon_variant ESAD-UK 6 105178321 105178321 single base substitution T C intron_variant ESAD-UK 6 105179149 105179149 single base substitution C T exon_variant ESAD-UK 6 105179149 105179149 single base substitution C T intron_variant ESAD-UK 6 105179295 105179295 deletion of <=200bp A - exon_variant ESAD-UK 6 105179295 105179295 deletion of <=200bp A - intron_variant ESAD-UK 6 105179317 105179317 single base substitution G C exon_variant ESAD-UK 6 105179317 105179317 single base substitution G C intron_variant ESAD-UK 6 105179968 105179968 single base substitution A T exon_variant ESAD-UK 6 105179968 105179968 single base substitution A T intron_variant ESAD-UK 6 105179983 105179983 single base substitution A T exon_variant ESAD-UK 6 105179983 105179983 single base substitution A T intron_variant ESAD-UK 6 105182703 105182703 single base substitution T G intron_variant ESAD-UK 6 105182703 105182703 single base substitution T G upstream_gene_variant ESAD-UK 6 105182939 105182939 single base substitution G T intron_variant ESAD-UK 6 105182939 105182939 single base substitution G T upstream_gene_variant ESAD-UK 6 105184085 105184085 insertion of <=200bp - A intron_variant ESAD-UK 6 105184085 105184085 insertion of <=200bp - A upstream_gene_variant ESAD-UK 6 105184347 105184347 single base substitution C T intron_variant ESAD-UK 6 105184347 105184347 single base substitution C T upstream_gene_variant ESAD-UK 6 105184874 105184874 single base substitution A C intron_variant ESAD-UK 6 105184874 105184874 single base substitution A C upstream_gene_variant ESAD-UK 6 105184930 105184930 single base substitution G A intron_variant ESAD-UK 6 105184930 105184930 single base substitution G A upstream_gene_variant ESAD-UK 6 105185135 105185135 single base substitution G A intron_variant ESAD-UK 6 105185135 105185135 single base substitution G A upstream_gene_variant ESAD-UK 6 105191271 105191271 single base substitution G A intron_variant ESAD-UK 6 105191645 105191645 single base substitution G A intron_variant ESAD-UK 6 105191829 105191829 single base substitution A G intron_variant ESAD-UK 6 105192013 105192013 single base substitution T C intron_variant ESAD-UK 6 105194726 105194726 single base substitution C T intron_variant ESAD-UK 6 105194829 105194829 single base substitution A C intron_variant ESAD-UK 6 105196224 105196224 insertion of <=200bp - CTATCAA intron_variant ESAD-UK 6 105196598 105196598 single base substitution A G intron_variant ESAD-UK 6 105197924 105197924 single base substitution T C intron_variant ESAD-UK 6 105197953 105197953 single base substitution A G intron_variant ESAD-UK 6 105198025 105198025 single base substitution A G intron_variant ESAD-UK 6 105200071 105200071 single base substitution A C intron_variant ESAD-UK 6 105200645 105200645 insertion of <=200bp - TAAAA intron_variant ESAD-UK 6 105201333 105201333 single base substitution G T intron_variant ESAD-UK 6 105205862 105205862 single base substitution A C intron_variant ESAD-UK 6 105206671 105206671 single base substitution G T intron_variant ESAD-UK 6 105207659 105207659 single base substitution C T intron_variant ESAD-UK 6 105207946 105207946 deletion of <=200bp A - intron_variant ESAD-UK 6 105208596 105208596 single base substitution A G intron_variant ESAD-UK 6 105209218 105209218 single base substitution A T intron_variant ESAD-UK 6 105209259 105209259 single base substitution A C intron_variant ESAD-UK 6 105211480 105211480 single base substitution A G intron_variant ESAD-UK 6 105212286 105212286 single base substitution G T intron_variant ESAD-UK 6 105213074 105213074 single base substitution C A intron_variant ESAD-UK 6 105213384 105213384 single base substitution C A intron_variant ESAD-UK 6 105214863 105214863 single base substitution G A intron_variant ESAD-UK 6 105218462 105218462 single base substitution C T intron_variant ESAD-UK 6 105221489 105221489 single base substitution T C intron_variant ESAD-UK 6 105221561 105221561 single base substitution C A intron_variant ESAD-UK 6 105221647 105221647 single base substitution A T intron_variant ESAD-UK 6 105221648 105221648 single base substitution A T intron_variant ESAD-UK 6 105223652 105223652 single base substitution C G intron_variant ESAD-UK 6 105224651 105224651 single base substitution T C 3_prime_UTR_variant ESAD-UK 6 105224651 105224651 single base substitution T C exon_variant ESAD-UK 6 105224651 105224651 single base substitution T C intron_variant ESAD-UK 6 105224651 105224651 single base substitution T C missense_variant N44S 131A>G ESAD-UK 6 105224651 105224651 single base substitution T C missense_variant N610S 1829A>G ESAD-UK 6 105224651 105224651 single base substitution T C missense_variant N92S 275A>G ESAD-UK 6 105225930 105225930 single base substitution G A intron_variant ESAD-UK 6 105225930 105225930 single base substitution G A upstream_gene_variant ESAD-UK 6 105226754 105226754 single base substitution A T intron_variant ESAD-UK 6 105226754 105226754 single base substitution A T upstream_gene_variant ESAD-UK 6 105229143 105229143 single base substitution A C intron_variant ESAD-UK 6 105229143 105229143 single base substitution A C upstream_gene_variant ESAD-UK 6 105229466 105229466 single base substitution A C intron_variant ESAD-UK 6 105229466 105229466 single base substitution A C upstream_gene_variant ESAD-UK 6 105229584 105229584 single base substitution T C intron_variant ESAD-UK 6 105229584 105229584 single base substitution T C upstream_gene_variant ESAD-UK 6 105230358 105230358 insertion of <=200bp - A intron_variant ESAD-UK 6 105230358 105230358 insertion of <=200bp - A upstream_gene_variant ESAD-UK 6 105230897 105230897 single base substitution C A intron_variant ESAD-UK 6 105230897 105230897 single base substitution C A upstream_gene_variant ESAD-UK 6 105233104 105233104 single base substitution T C 3_prime_UTR_variant ESAD-UK 6 105233104 105233104 single base substitution T C exon_variant ESAD-UK 6 105233104 105233104 single base substitution T C missense_variant T389A 1165A>G ESAD-UK 6 105233104 105233104 single base substitution T C upstream_gene_variant ESAD-UK 6 105233614 105233614 single base substitution A T exon_variant ESAD-UK 6 105233614 105233614 single base substitution A T intron_variant ESAD-UK 6 105233614 105233614 single base substitution A T upstream_gene_variant ESAD-UK 6 105233624 105233624 single base substitution C A exon_variant ESAD-UK 6 105233624 105233624 single base substitution C A intron_variant ESAD-UK 6 105233624 105233624 single base substitution C A upstream_gene_variant ESAD-UK 6 105233804 105233804 single base substitution A T exon_variant ESAD-UK 6 105233804 105233804 single base substitution A T intron_variant ESAD-UK 6 105233804 105233804 single base substitution A T upstream_gene_variant ESAD-UK 6 105236237 105236237 single base substitution T C intron_variant ESAD-UK 6 105236237 105236237 single base substitution T C upstream_gene_variant ESAD-UK 6 105239399 105239399 single base substitution G C 3_prime_UTR_variant ESAD-UK 6 105239399 105239399 single base substitution G C missense_variant P352A 1054C>G ESAD-UK 6 105239399 105239399 single base substitution G C upstream_gene_variant ESAD-UK 6 105241394 105241394 single base substitution C A downstream_gene_variant ESAD-UK 6 105241394 105241394 single base substitution C A intron_variant ESAD-UK 6 105241805 105241805 single base substitution G A downstream_gene_variant ESAD-UK 6 105241805 105241805 single base substitution G A intron_variant ESAD-UK 6 105242004 105242004 single base substitution A T downstream_gene_variant ESAD-UK 6 105242004 105242004 single base substitution A T intron_variant ESAD-UK 6 105242180 105242180 single base substitution A G downstream_gene_variant ESAD-UK 6 105242180 105242180 single base substitution A G intron_variant ESAD-UK 6 105242524 105242524 single base substitution A G downstream_gene_variant ESAD-UK 6 105242524 105242524 single base substitution A G intron_variant ESAD-UK 6 105243200 105243200 single base substitution C T downstream_gene_variant ESAD-UK 6 105243200 105243200 single base substitution C T intron_variant ESAD-UK 6 105246275 105246275 single base substitution A T intron_variant ESAD-UK 6 105246987 105246987 single base substitution G C intron_variant ESAD-UK 6 105248148 105248148 single base substitution T G intron_variant ESAD-UK 6 105248213 105248213 single base substitution T A intron_variant ESAD-UK 6 105249076 105249076 single base substitution A G intron_variant ESAD-UK 6 105249194 105249194 single base substitution C T intron_variant ESAD-UK 6 105250037 105250037 single base substitution G C intron_variant ESAD-UK 6 105250058 105250058 single base substitution T A intron_variant ESAD-UK 6 105251682 105251682 single base substitution G A intron_variant ESAD-UK 6 105253832 105253832 single base substitution A G intron_variant ESAD-UK 6 105258604 105258604 single base substitution A C intron_variant ESAD-UK 6 105262941 105262941 single base substitution A G intron_variant ESAD-UK 6 105265016 105265016 single base substitution T G intron_variant ESAD-UK 6 105265933 105265933 single base substitution A C intron_variant ESAD-UK 6 105268459 105268459 single base substitution A G intron_variant ESAD-UK 6 105268983 105268983 single base substitution C T intron_variant ESAD-UK 6 105269946 105269946 single base substitution A T intron_variant ESAD-UK 6 105269966 105269966 single base substitution G T intron_variant ESAD-UK 6 105274152 105274152 single base substitution C T intron_variant ESAD-UK 6 105275469 105275469 single base substitution A G intron_variant ESAD-UK 6 105279852 105279852 single base substitution A G downstream_gene_variant ESAD-UK 6 105279852 105279852 single base substitution A G intron_variant ESAD-UK 6 105280918 105280918 single base substitution G A downstream_gene_variant ESAD-UK 6 105280918 105280918 single base substitution G A intron_variant ESAD-UK 6 105280918 105280918 single base substitution G A missense_variant T178M 533C>T ESAD-UK 6 105280918 105280918 single base substitution G A splice_region_variant ESAD-UK 6 105281203 105281203 single base substitution A G intron_variant ESAD-UK 6 105284107 105284107 single base substitution A C intron_variant ESAD-UK 6 105284482 105284482 single base substitution G T intron_variant ESAD-UK 6 105285111 105285111 single base substitution G A intron_variant ESAD-UK 6 105285759 105285759 single base substitution C T intron_variant ESAD-UK 6 105287750 105287750 single base substitution G A downstream_gene_variant ESAD-UK 6 105287750 105287750 single base substitution G A intron_variant ESAD-UK 6 105289038 105289038 single base substitution G A downstream_gene_variant ESAD-UK 6 105289038 105289038 single base substitution G A intron_variant ESAD-UK 6 105290714 105290714 single base substitution C T downstream_gene_variant ESAD-UK 6 105290714 105290714 single base substitution C T intron_variant ESAD-UK 6 105291371 105291371 single base substitution G C intron_variant ESAD-UK 6 105293093 105293093 single base substitution C T intron_variant ESAD-UK 6 105297691 105297691 deletion of <=200bp T - intron_variant ESAD-UK 6 105298649 105298649 single base substitution G A intron_variant ESAD-UK 6 105299119 105299119 single base substitution C T intron_variant ESAD-UK 6 105300931 105300931 single base substitution G A intron_variant ESAD-UK 6 105301385 105301385 single base substitution A G intron_variant ESAD-UK 6 105303180 105303180 single base substitution T C intron_variant ESAD-UK 6 105303247 105303247 single base substitution G A intron_variant ESAD-UK 6 105306076 105306076 single base substitution C T intron_variant ESAD-UK 6 105307279 105307279 single base substitution G C 5_prime_UTR_variant ESAD-UK 6 105307279 105307279 single base substitution G C exon_variant ESAD-UK 6 105307279 105307279 single base substitution G C intron_variant ESAD-UK 6 105308840 105308840 single base substitution G A upstream_gene_variant ESAD-UK 6 105309961 105309961 single base substitution A G upstream_gene_variant ESAD-UK 6 105310485 105310485 single base substitution G A upstream_gene_variant ESAD-UK 6 105312342 105312342 single base substitution C T upstream_gene_variant ESCA-CN 6 105177627 105177627 single base substitution G A 3_prime_UTR_variant ESCA-CN 6 105177627 105177627 single base substitution G A exon_variant ESCA-CN 6 105177627 105177627 single base substitution G A synonymous_variant L270L 810C>T ESCA-CN 6 105177627 105177627 single base substitution G A synonymous_variant L299L 897C>T ESCA-CN 6 105177627 105177627 single base substitution G A synonymous_variant L665L 1995C>T ESCA-CN 6 105177627 105177627 single base substitution G A synonymous_variant L880L 2640C>T ESCA-CN 6 105192486 105192486 single base substitution C A splice_acceptor_variant ESCA-CN 6 105198253 105198253 single base substitution G A 3_prime_UTR_variant ESCA-CN 6 105198253 105198253 single base substitution G A exon_variant ESCA-CN 6 105198253 105198253 single base substitution G A intron_variant ESCA-CN 6 105198253 105198253 single base substitution G A missense_variant P554L 1661C>T ESCA-CN 6 105198253 105198253 single base substitution G A missense_variant P769L 2306C>T ESCA-CN 6 105232887 105232887 single base substitution A G 3_prime_UTR_variant ESCA-CN 6 105232887 105232887 single base substitution A G exon_variant ESCA-CN 6 105232887 105232887 single base substitution A G missense_variant M461T 1382T>C ESCA-CN 6 105232887 105232887 single base substitution A G upstream_gene_variant KIRC-US 6 105192486 105192486 single base substitution C A splice_acceptor_variant KIRC-US 6 105233140 105233140 single base substitution C A 3_prime_UTR_variant KIRC-US 6 105233140 105233140 single base substitution C A exon_variant KIRC-US 6 105233140 105233140 single base substitution C A stop_gained E377* 1129G>T KIRC-US 6 105233140 105233140 single base substitution C A upstream_gene_variant KIRC-US 6 105298826 105298826 single base substitution A G 3_prime_UTR_variant KIRC-US 6 105298826 105298826 single base substitution A G exon_variant KIRC-US 6 105298826 105298826 single base substitution A G synonymous_variant Y25Y 75T>C KIRC-US 6 105298826 105298826 single base substitution A G synonymous_variant Y59Y 177T>C KIRP-US 6 105298839 105298839 single base substitution A T 3_prime_UTR_variant KIRP-US 6 105298839 105298839 single base substitution A T exon_variant KIRP-US 6 105298839 105298839 single base substitution A T missense_variant F21Y 62T>A KIRP-US 6 105298839 105298839 single base substitution A T missense_variant F55Y 164T>A LAML-KR 6 105181553 105181553 single base substitution G A intron_variant LAML-KR 6 105181553 105181553 single base substitution G A upstream_gene_variant LAML-KR 6 105181557 105181557 single base substitution C T intron_variant LAML-KR 6 105181557 105181557 single base substitution C T upstream_gene_variant LAML-KR 6 105186112 105186112 single base substitution C G intron_variant LAML-KR 6 105187606 105187606 single base substitution C T intron_variant LAML-KR 6 105188885 105188885 single base substitution G A intron_variant LAML-KR 6 105190067 105190067 single base substitution T A intron_variant LAML-KR 6 105222294 105222294 single base substitution C T intron_variant LAML-KR 6 105259152 105259152 single base substitution C T intron_variant LAML-KR 6 105271787 105271787 single base substitution A C intron_variant LAML-KR 6 105280838 105280838 single base substitution T C downstream_gene_variant LAML-KR 6 105280838 105280838 single base substitution T C intron_variant LAML-KR 6 105297540 105297540 single base substitution C T intron_variant LGG-US 6 105232863 105232863 single base substitution G A 3_prime_UTR_variant LGG-US 6 105232863 105232863 single base substitution G A exon_variant LGG-US 6 105232863 105232863 single base substitution G A missense_variant P469L 1406C>T LGG-US 6 105232863 105232863 single base substitution G A upstream_gene_variant LICA-CN 6 105232044 105232044 single base substitution G A 3_prime_UTR_variant LICA-CN 6 105232044 105232044 single base substitution G A exon_variant LICA-CN 6 105232044 105232044 single base substitution G A missense_variant P495S 1483C>T LICA-CN 6 105232044 105232044 single base substitution G A upstream_gene_variant LICA-CN 6 105233025 105233025 single base substitution C A 3_prime_UTR_variant LICA-CN 6 105233025 105233025 single base substitution C A exon_variant LICA-CN 6 105233025 105233025 single base substitution C A missense_variant S415I 1244G>T LICA-CN 6 105233025 105233025 single base substitution C A upstream_gene_variant LICA-FR 6 105171215 105171215 single base substitution A G downstream_gene_variant LICA-FR 6 105171845 105171845 single base substitution C A downstream_gene_variant LICA-FR 6 105178267 105178267 insertion of <=200bp - A 3_prime_UTR_variant LICA-FR 6 105178267 105178267 insertion of <=200bp - A exon_variant LICA-FR 6 105178267 105178267 insertion of <=200bp - A frameshift_variant F236F? LICA-FR 6 105178267 105178267 insertion of <=200bp - A frameshift_variant F265F? LICA-FR 6 105178267 105178267 insertion of <=200bp - A frameshift_variant F631F? LICA-FR 6 105178267 105178267 insertion of <=200bp - A frameshift_variant F846F? LICA-FR 6 105183012 105183012 single base substitution T A intron_variant LICA-FR 6 105183012 105183012 single base substitution T A upstream_gene_variant LICA-FR 6 105184172 105184173 deletion of <=200bp TT - intron_variant LICA-FR 6 105184172 105184173 deletion of <=200bp TT - upstream_gene_variant LICA-FR 6 105186426 105186426 single base substitution A T intron_variant LICA-FR 6 105187582 105187582 single base substitution C T intron_variant LICA-FR 6 105187655 105187655 single base substitution T A intron_variant LICA-FR 6 105247843 105247843 single base substitution C T intron_variant LICA-FR 6 105250390 105250390 single base substitution T C intron_variant LICA-FR 6 105256388 105256388 single base substitution C T intron_variant LICA-FR 6 105273005 105273005 single base substitution A G intron_variant LIHC-US 6 105244550 105244550 single base substitution C T 3_prime_UTR_variant LIHC-US 6 105244550 105244550 single base substitution C T downstream_gene_variant LIHC-US 6 105244550 105244550 single base substitution C T missense_variant E266K 796G>A LIHC-US 6 105259252 105259252 single base substitution A G 3_prime_UTR_variant LIHC-US 6 105259252 105259252 single base substitution A G missense_variant L140P 419T>C LIHC-US 6 105259252 105259252 single base substitution A G missense_variant L184P 551T>C LINC-JP 6 105176335 105176335 single base substitution C A 3_prime_UTR_variant LINC-JP 6 105176335 105176335 single base substitution C A downstream_gene_variant LINC-JP 6 105176335 105176335 single base substitution C A exon_variant LINC-JP 6 105177635 105177635 single base substitution T C 3_prime_UTR_variant LINC-JP 6 105177635 105177635 single base substitution T C exon_variant LINC-JP 6 105177635 105177635 single base substitution T C missense_variant N268D 802A>G LINC-JP 6 105177635 105177635 single base substitution T C missense_variant N297D 889A>G LINC-JP 6 105177635 105177635 single base substitution T C missense_variant N663D 1987A>G LINC-JP 6 105177635 105177635 single base substitution T C missense_variant N878D 2632A>G LINC-JP 6 105178224 105178224 single base substitution C T 3_prime_UTR_variant LINC-JP 6 105178224 105178224 single base substitution C T exon_variant LINC-JP 6 105178224 105178224 single base substitution C T missense_variant A251T 751G>A LINC-JP 6 105178224 105178224 single base substitution C T missense_variant A280T 838G>A LINC-JP 6 105178224 105178224 single base substitution C T missense_variant A646T 1936G>A LINC-JP 6 105178224 105178224 single base substitution C T missense_variant A861T 2581G>A LINC-JP 6 105180862 105180862 single base substitution C A intron_variant LINC-JP 6 105180862 105180862 single base substitution C A upstream_gene_variant LINC-JP 6 105192104 105192104 single base substitution C A intron_variant LINC-JP 6 105192104 105192104 single base substitution C A missense_variant W205L 614G>T LINC-JP 6 105192104 105192104 single base substitution C A missense_variant W600L 1799G>T LINC-JP 6 105192104 105192104 single base substitution C A missense_variant W815L 2444G>T LINC-JP 6 105192104 105192104 single base substitution C A splice_region_variant LINC-JP 6 105192489 105192489 single base substitution G C splice_region_variant LINC-JP 6 105194639 105194639 single base substitution T C intron_variant LINC-JP 6 105197847 105197847 single base substitution T A intron_variant LINC-JP 6 105198223 105198223 single base substitution T A 3_prime_UTR_variant LINC-JP 6 105198223 105198223 single base substitution T A exon_variant LINC-JP 6 105198223 105198223 single base substitution T A intron_variant LINC-JP 6 105198223 105198223 single base substitution T A missense_variant Y564F 1691A>T LINC-JP 6 105198223 105198223 single base substitution T A missense_variant Y779F 2336A>T LINC-JP 6 105201905 105201905 single base substitution C T intron_variant LINC-JP 6 105211037 105211037 single base substitution T C intron_variant LINC-JP 6 105221536 105221536 single base substitution A G intron_variant LINC-JP 6 105223253 105223253 single base substitution T C intron_variant LINC-JP 6 105228539 105228539 single base substitution C A intron_variant LINC-JP 6 105228539 105228539 single base substitution C A upstream_gene_variant LINC-JP 6 105234967 105234967 single base substitution T A exon_variant LINC-JP 6 105234967 105234967 single base substitution T A intron_variant LINC-JP 6 105234967 105234967 single base substitution T A upstream_gene_variant LINC-JP 6 105236064 105236064 single base substitution T A intron_variant LINC-JP 6 105236064 105236064 single base substitution T A upstream_gene_variant LINC-JP 6 105237944 105237944 insertion of <=200bp - A intron_variant LINC-JP 6 105237944 105237944 insertion of <=200bp - A upstream_gene_variant LINC-JP 6 105243726 105243726 single base substitution A G downstream_gene_variant LINC-JP 6 105243726 105243726 single base substitution A G intron_variant LINC-JP 6 105252243 105252243 single base substitution A C intron_variant LINC-JP 6 105260336 105260336 single base substitution T C intron_variant LINC-JP 6 105271806 105271806 single base substitution T C intron_variant LINC-JP 6 105272921 105272921 single base substitution C A intron_variant LINC-JP 6 105276293 105276293 single base substitution T A downstream_gene_variant LINC-JP 6 105276293 105276293 single base substitution T A intron_variant LINC-JP 6 105277012 105277012 single base substitution T G downstream_gene_variant LINC-JP 6 105277012 105277012 single base substitution T G intron_variant LINC-JP 6 105277961 105277961 single base substitution C A downstream_gene_variant LINC-JP 6 105277961 105277961 single base substitution C A intron_variant LINC-JP 6 105299930 105299930 single base substitution G A intron_variant LIRI-JP 6 105171123 105171123 single base substitution T C downstream_gene_variant LIRI-JP 6 105175830 105175830 single base substitution C A downstream_gene_variant LIRI-JP 6 105175831 105175831 single base substitution C A downstream_gene_variant LIRI-JP 6 105176217 105176217 single base substitution G A 3_prime_UTR_variant LIRI-JP 6 105176217 105176217 single base substitution G A downstream_gene_variant LIRI-JP 6 105176217 105176217 single base substitution G A exon_variant LIRI-JP 6 105176533 105176533 single base substitution T C 3_prime_UTR_variant LIRI-JP 6 105176533 105176533 single base substitution T C downstream_gene_variant LIRI-JP 6 105176533 105176533 single base substitution T C exon_variant LIRI-JP 6 105178038 105178038 single base substitution T A intron_variant LIRI-JP 6 105178159 105178159 single base substitution A G intron_variant LIRI-JP 6 105178399 105178399 single base substitution G A exon_variant LIRI-JP 6 105178399 105178399 single base substitution G A intron_variant LIRI-JP 6 105179798 105179798 single base substitution T C exon_variant LIRI-JP 6 105179798 105179798 single base substitution T C intron_variant LIRI-JP 6 105182136 105182136 single base substitution A C intron_variant LIRI-JP 6 105182136 105182136 single base substitution A C upstream_gene_variant LIRI-JP 6 105183424 105183424 single base substitution T C intron_variant LIRI-JP 6 105183424 105183424 single base substitution T C upstream_gene_variant LIRI-JP 6 105184440 105184440 single base substitution A G intron_variant LIRI-JP 6 105184440 105184440 single base substitution A G upstream_gene_variant LIRI-JP 6 105190955 105190955 single base substitution C T intron_variant LIRI-JP 6 105191722 105191722 single base substitution T C intron_variant LIRI-JP 6 105194164 105194164 single base substitution G A intron_variant LIRI-JP 6 105195105 105195105 single base substitution T G intron_variant LIRI-JP 6 105196846 105196846 single base substitution G A intron_variant LIRI-JP 6 105197372 105197372 single base substitution C T intron_variant LIRI-JP 6 105197854 105197854 single base substitution T C intron_variant LIRI-JP 6 105197910 105197910 single base substitution G T intron_variant LIRI-JP 6 105199068 105199068 single base substitution T C intron_variant LIRI-JP 6 105200086 105200086 single base substitution T C intron_variant LIRI-JP 6 105200600 105200600 single base substitution C A intron_variant LIRI-JP 6 105201659 105201659 single base substitution C A intron_variant LIRI-JP 6 105206022 105206022 single base substitution T G intron_variant LIRI-JP 6 105208636 105208636 single base substitution C T intron_variant LIRI-JP 6 105209265 105209265 single base substitution A G intron_variant LIRI-JP 6 105210295 105210295 single base substitution A T intron_variant LIRI-JP 6 105210693 105210693 single base substitution G A intron_variant LIRI-JP 6 105212282 105212282 single base substitution A C intron_variant LIRI-JP 6 105214047 105214047 single base substitution T A intron_variant LIRI-JP 6 105215102 105215102 single base substitution T C intron_variant LIRI-JP 6 105215963 105215963 single base substitution T A intron_variant LIRI-JP 6 105219946 105219946 single base substitution G C 3_prime_UTR_variant LIRI-JP 6 105219946 105219946 single base substitution G C exon_variant LIRI-JP 6 105219946 105219946 single base substitution G C intron_variant LIRI-JP 6 105219946 105219946 single base substitution G C missense_variant T105R 314C>G LIRI-JP 6 105219946 105219946 single base substitution G C missense_variant T57R 170C>G LIRI-JP 6 105219946 105219946 single base substitution G C missense_variant T623R 1868C>G LIRI-JP 6 105220010 105220010 single base substitution T G intron_variant LIRI-JP 6 105220012 105220012 single base substitution C A intron_variant LIRI-JP 6 105222623 105222623 single base substitution T C intron_variant LIRI-JP 6 105222781 105222781 single base substitution C T intron_variant LIRI-JP 6 105225597 105225598 deletion of <=200bp AC - intron_variant LIRI-JP 6 105225597 105225598 deletion of <=200bp AC - upstream_gene_variant LIRI-JP 6 105227351 105227351 single base substitution A C intron_variant LIRI-JP 6 105227351 105227351 single base substitution A C upstream_gene_variant LIRI-JP 6 105230560 105230560 single base substitution T C intron_variant LIRI-JP 6 105230560 105230560 single base substitution T C upstream_gene_variant LIRI-JP 6 105231306 105231306 single base substitution A G intron_variant LIRI-JP 6 105231306 105231306 single base substitution A G upstream_gene_variant LIRI-JP 6 105232648 105232648 single base substitution C A intron_variant LIRI-JP 6 105232648 105232648 single base substitution C A upstream_gene_variant LIRI-JP 6 105233468 105233468 single base substitution C T exon_variant LIRI-JP 6 105233468 105233468 single base substitution C T intron_variant LIRI-JP 6 105233468 105233468 single base substitution C T upstream_gene_variant LIRI-JP 6 105234351 105234351 single base substitution C T exon_variant LIRI-JP 6 105234351 105234351 single base substitution C T intron_variant LIRI-JP 6 105234351 105234351 single base substitution C T upstream_gene_variant LIRI-JP 6 105234596 105234596 single base substitution C T exon_variant LIRI-JP 6 105234596 105234596 single base substitution C T intron_variant LIRI-JP 6 105234596 105234596 single base substitution C T upstream_gene_variant LIRI-JP 6 105236298 105236298 single base substitution T C intron_variant LIRI-JP 6 105236298 105236298 single base substitution T C upstream_gene_variant LIRI-JP 6 105237348 105237348 single base substitution C T intron_variant LIRI-JP 6 105237348 105237348 single base substitution C T upstream_gene_variant LIRI-JP 6 105237382 105237382 single base substitution T G intron_variant LIRI-JP 6 105237382 105237382 single base substitution T G upstream_gene_variant LIRI-JP 6 105239319 105239319 single base substitution C G intron_variant LIRI-JP 6 105239319 105239319 single base substitution C G upstream_gene_variant LIRI-JP 6 105244246 105244246 single base substitution A T downstream_gene_variant LIRI-JP 6 105244246 105244246 single base substitution A T intron_variant LIRI-JP 6 105247914 105247914 single base substitution G A intron_variant LIRI-JP 6 105250667 105250667 single base substitution C T intron_variant LIRI-JP 6 105251476 105251476 single base substitution C A intron_variant LIRI-JP 6 105254492 105254492 single base substitution T C intron_variant LIRI-JP 6 105262106 105262106 single base substitution G A intron_variant LIRI-JP 6 105262153 105262153 single base substitution T C intron_variant LIRI-JP 6 105265366 105265366 single base substitution G C intron_variant LIRI-JP 6 105265684 105265684 single base substitution C T intron_variant LIRI-JP 6 105266526 105266526 single base substitution G A intron_variant LIRI-JP 6 105266834 105266834 single base substitution A C intron_variant LIRI-JP 6 105269853 105269853 single base substitution T C intron_variant LIRI-JP 6 105273975 105273975 single base substitution G A intron_variant LIRI-JP 6 105275562 105275562 single base substitution C T intron_variant LIRI-JP 6 105276093 105276093 single base substitution A C downstream_gene_variant LIRI-JP 6 105276093 105276093 single base substitution A C intron_variant LIRI-JP 6 105278275 105278275 single base substitution G A downstream_gene_variant LIRI-JP 6 105278275 105278275 single base substitution G A intron_variant LIRI-JP 6 105278788 105278788 single base substitution C T downstream_gene_variant LIRI-JP 6 105278788 105278788 single base substitution C T intron_variant LIRI-JP 6 105280933 105280933 single base substitution T A downstream_gene_variant LIRI-JP 6 105280933 105280933 single base substitution T A exon_variant LIRI-JP 6 105280933 105280933 single base substitution T A intron_variant LIRI-JP 6 105280933 105280933 single base substitution T A missense_variant Q173L 518A>T LIRI-JP 6 105282938 105282938 single base substitution G T intron_variant LIRI-JP 6 105283541 105283541 single base substitution A G intron_variant LIRI-JP 6 105283726 105283726 single base substitution T C intron_variant LIRI-JP 6 105283953 105283953 single base substitution G T intron_variant LIRI-JP 6 105285740 105285740 single base substitution T C intron_variant LIRI-JP 6 105287236 105287236 single base substitution T C downstream_gene_variant LIRI-JP 6 105287236 105287236 single base substitution T C intron_variant LIRI-JP 6 105290749 105290749 single base substitution G C downstream_gene_variant LIRI-JP 6 105290749 105290749 single base substitution G C intron_variant LIRI-JP 6 105291515 105291515 insertion of <=200bp - A intron_variant LIRI-JP 6 105293264 105293264 single base substitution T A intron_variant LIRI-JP 6 105294322 105294322 single base substitution C A intron_variant LIRI-JP 6 105296069 105296069 single base substitution G A intron_variant LIRI-JP 6 105296395 105296395 single base substitution T A intron_variant LIRI-JP 6 105298243 105298243 single base substitution A G intron_variant LIRI-JP 6 105299269 105299269 single base substitution T C intron_variant LIRI-JP 6 105304750 105304750 single base substitution T C intron_variant LIRI-JP 6 105305322 105305322 single base substitution A T intron_variant LIRI-JP 6 105308592 105308592 single base substitution G T upstream_gene_variant LIRI-JP 6 105309508 105309508 single base substitution C T upstream_gene_variant LIRI-JP 6 105309855 105309855 single base substitution G T upstream_gene_variant LIRI-JP 6 105309934 105309934 single base substitution T C upstream_gene_variant LIRI-JP 6 105311259 105311259 single base substitution T C upstream_gene_variant LIRI-JP 6 105311645 105311645 single base substitution G A upstream_gene_variant LUSC-KR 6 105174869 105174869 single base substitution T C downstream_gene_variant LUSC-KR 6 105175614 105175614 single base substitution A G downstream_gene_variant LUSC-KR 6 105176203 105176203 single base substitution T C 3_prime_UTR_variant LUSC-KR 6 105176203 105176203 single base substitution T C downstream_gene_variant LUSC-KR 6 105176203 105176203 single base substitution T C exon_variant LUSC-KR 6 105180028 105180028 single base substitution C A exon_variant LUSC-KR 6 105180028 105180028 single base substitution C A intron_variant LUSC-KR 6 105180135 105180135 single base substitution C A exon_variant LUSC-KR 6 105180135 105180135 single base substitution C A intron_variant LUSC-KR 6 105185072 105185072 single base substitution C G intron_variant LUSC-KR 6 105185072 105185072 single base substitution C G upstream_gene_variant LUSC-KR 6 105186112 105186112 single base substitution C G intron_variant LUSC-KR 6 105186257 105186257 single base substitution G A intron_variant LUSC-KR 6 105186292 105186292 single base substitution T C intron_variant LUSC-KR 6 105187606 105187606 single base substitution C T intron_variant LUSC-KR 6 105187658 105187658 single base substitution C T intron_variant LUSC-KR 6 105190024 105190024 single base substitution C A intron_variant LUSC-KR 6 105190067 105190067 single base substitution T A intron_variant LUSC-KR 6 105190093 105190093 single base substitution A G intron_variant LUSC-KR 6 105190193 105190193 single base substitution A C intron_variant LUSC-KR 6 105190806 105190806 single base substitution G C intron_variant LUSC-KR 6 105190827 105190827 single base substitution C A intron_variant LUSC-KR 6 105191337 105191337 single base substitution C G intron_variant LUSC-KR 6 105191814 105191814 single base substitution C T intron_variant LUSC-KR 6 105192213 105192213 single base substitution C T intron_variant LUSC-KR 6 105194456 105194456 single base substitution C A intron_variant LUSC-KR 6 105200247 105200247 single base substitution C A intron_variant LUSC-KR 6 105204806 105204806 single base substitution C A intron_variant LUSC-KR 6 105206644 105206644 single base substitution C A intron_variant LUSC-KR 6 105208138 105208138 single base substitution C A intron_variant LUSC-KR 6 105218669 105218669 single base substitution A G intron_variant LUSC-KR 6 105219434 105219434 single base substitution T C intron_variant LUSC-KR 6 105220660 105220660 single base substitution A G intron_variant LUSC-KR 6 105222111 105222111 single base substitution C A intron_variant LUSC-KR 6 105228308 105228308 single base substitution G A 3_prime_UTR_variant LUSC-KR 6 105228308 105228308 single base substitution G A intron_variant LUSC-KR 6 105228308 105228308 single base substitution G A upstream_gene_variant LUSC-KR 6 105230665 105230665 single base substitution A C intron_variant LUSC-KR 6 105230665 105230665 single base substitution A C upstream_gene_variant LUSC-KR 6 105243049 105243049 single base substitution G C downstream_gene_variant LUSC-KR 6 105243049 105243049 single base substitution G C intron_variant LUSC-KR 6 105245992 105245992 single base substitution C A intron_variant LUSC-KR 6 105246300 105246300 single base substitution A G intron_variant LUSC-KR 6 105249901 105249901 single base substitution G A intron_variant LUSC-KR 6 105251605 105251605 single base substitution T G intron_variant LUSC-KR 6 105252787 105252787 single base substitution T A intron_variant LUSC-KR 6 105254894 105254894 single base substitution C T intron_variant LUSC-KR 6 105255975 105255975 single base substitution C A intron_variant LUSC-KR 6 105256082 105256082 single base substitution T A intron_variant LUSC-KR 6 105257508 105257508 single base substitution C G intron_variant LUSC-KR 6 105264945 105264945 single base substitution T C intron_variant LUSC-KR 6 105268318 105268318 single base substitution C T intron_variant LUSC-KR 6 105270731 105270731 single base substitution T G intron_variant LUSC-KR 6 105273320 105273320 single base substitution T C intron_variant LUSC-KR 6 105273389 105273389 single base substitution T A intron_variant LUSC-KR 6 105273967 105273967 single base substitution G A intron_variant LUSC-KR 6 105278583 105278583 single base substitution G C downstream_gene_variant LUSC-KR 6 105278583 105278583 single base substitution G C intron_variant LUSC-KR 6 105279786 105279786 single base substitution A G downstream_gene_variant LUSC-KR 6 105279786 105279786 single base substitution A G intron_variant LUSC-KR 6 105289513 105289513 single base substitution A G downstream_gene_variant LUSC-KR 6 105289513 105289513 single base substitution A G intron_variant LUSC-KR 6 105292318 105292318 single base substitution A G intron_variant LUSC-KR 6 105292555 105292555 single base substitution G T intron_variant LUSC-KR 6 105300074 105300074 single base substitution C G intron_variant LUSC-KR 6 105300105 105300105 single base substitution C T intron_variant LUSC-KR 6 105300107 105300107 single base substitution C T intron_variant LUSC-KR 6 105310534 105310534 single base substitution C T upstream_gene_variant LUSC-KR 6 105311269 105311269 single base substitution C T upstream_gene_variant LUSC-KR 6 105311949 105311949 single base substitution C G upstream_gene_variant LUSC-KR 6 105312204 105312204 single base substitution T A upstream_gene_variant LUSC-US 6 105177550 105177550 single base substitution T C 3_prime_UTR_variant LUSC-US 6 105177550 105177550 single base substitution T C exon_variant LUSC-US 6 105177550 105177550 single base substitution T C missense_variant Y296C 887A>G LUSC-US 6 105177550 105177550 single base substitution T C missense_variant Y325C 974A>G LUSC-US 6 105177550 105177550 single base substitution T C missense_variant Y691C 2072A>G LUSC-US 6 105177550 105177550 single base substitution T C missense_variant Y906C 2717A>G LUSC-US 6 105219851 105219851 single base substitution T A 3_prime_UTR_variant LUSC-US 6 105219851 105219851 single base substitution T A exon_variant LUSC-US 6 105219851 105219851 single base substitution T A intron_variant LUSC-US 6 105219851 105219851 single base substitution T A missense_variant R137W 409A>T LUSC-US 6 105219851 105219851 single base substitution T A missense_variant R655W 1963A>T LUSC-US 6 105219851 105219851 single base substitution T A missense_variant R89W 265A>T LUSC-US 6 105219949 105219949 single base substitution C A intron_variant LUSC-US 6 105219949 105219949 single base substitution C A missense_variant G104V 311G>T LUSC-US 6 105219949 105219949 single base substitution C A missense_variant G56V 167G>T LUSC-US 6 105219949 105219949 single base substitution C A missense_variant G622V 1865G>T LUSC-US 6 105219949 105219949 single base substitution C A splice_region_variant LUSC-US 6 105224980 105224980 single base substitution T G 3_prime_UTR_variant LUSC-US 6 105224980 105224980 single base substitution T G exon_variant LUSC-US 6 105224980 105224980 single base substitution T G intron_variant LUSC-US 6 105224980 105224980 single base substitution T G missense_variant I44L 130A>C LUSC-US 6 105224980 105224980 single base substitution T G missense_variant I562L 1684A>C LUSC-US 6 105224980 105224980 single base substitution T G splice_region_variant LUSC-US 6 105224980 105224980 single base substitution T G upstream_gene_variant LUSC-US 6 105233141 105233141 single base substitution T A 3_prime_UTR_variant LUSC-US 6 105233141 105233141 single base substitution T A exon_variant LUSC-US 6 105233141 105233141 single base substitution T A synonymous_variant T376T 1128A>T LUSC-US 6 105233141 105233141 single base substitution T A upstream_gene_variant LUSC-US 6 105259227 105259227 single base substitution C A 3_prime_UTR_variant LUSC-US 6 105259227 105259227 single base substitution C A missense_variant R148S 444G>T LUSC-US 6 105259227 105259227 single base substitution C A missense_variant R192S 576G>T LUSC-US 6 105281021 105281021 single base substitution T C exon_variant LUSC-US 6 105281021 105281021 single base substitution T C intron_variant LUSC-US 6 105281021 105281021 single base substitution T C missense_variant T110A 328A>G LUSC-US 6 105281021 105281021 single base substitution T C missense_variant T144A 430A>G MALY-DE 6 105182703 105182703 single base substitution T G intron_variant MALY-DE 6 105182703 105182703 single base substitution T G upstream_gene_variant MALY-DE 6 105193331 105193331 insertion of <=200bp - TTTTTTTTTT intron_variant MALY-DE 6 105194353 105194353 single base substitution G A intron_variant MALY-DE 6 105200635 105200635 single base substitution T G intron_variant MALY-DE 6 105202701 105202701 insertion of <=200bp - A intron_variant MALY-DE 6 105205618 105205628 deletion of <=200bp TTCTCCAAATT - intron_variant MALY-DE 6 105212638 105212638 single base substitution T C intron_variant MALY-DE 6 105216291 105216291 single base substitution G A intron_variant MALY-DE 6 105218579 105218579 single base substitution G A intron_variant MALY-DE 6 105222301 105222301 insertion of <=200bp - C intron_variant MALY-DE 6 105224296 105224296 single base substitution A C intron_variant MALY-DE 6 105228157 105228158 deletion of <=200bp AC - intron_variant MALY-DE 6 105228157 105228158 deletion of <=200bp AC - upstream_gene_variant MALY-DE 6 105231501 105231501 single base substitution G A intron_variant MALY-DE 6 105231501 105231501 single base substitution G A upstream_gene_variant MALY-DE 6 105233595 105233595 single base substitution A C exon_variant MALY-DE 6 105233595 105233595 single base substitution A C intron_variant MALY-DE 6 105233595 105233595 single base substitution A C upstream_gene_variant MALY-DE 6 105246284 105246284 single base substitution T C intron_variant MALY-DE 6 105249102 105249102 insertion of <=200bp - T intron_variant MALY-DE 6 105267597 105267597 single base substitution C T intron_variant MALY-DE 6 105276002 105276002 single base substitution G A downstream_gene_variant MALY-DE 6 105276002 105276002 single base substitution G A intron_variant MALY-DE 6 105281197 105281197 single base substitution A G intron_variant MALY-DE 6 105284877 105284877 single base substitution A C intron_variant MALY-DE 6 105290183 105290183 insertion of <=200bp - A downstream_gene_variant MALY-DE 6 105290183 105290183 insertion of <=200bp - A intron_variant MALY-DE 6 105292988 105292988 single base substitution G A intron_variant MALY-DE 6 105295609 105295609 deletion of <=200bp A - intron_variant MALY-DE 6 105297072 105297072 single base substitution G A 3_prime_UTR_variant MALY-DE 6 105297072 105297072 single base substitution G A exon_variant MALY-DE 6 105297072 105297072 single base substitution G A missense_variant P57S 169C>T MALY-DE 6 105297072 105297072 single base substitution G A missense_variant P91S 271C>T MALY-DE 6 105303679 105303679 single base substitution T C intron_variant MALY-DE 6 105307381 105307381 single base substitution G A 5_prime_UTR_variant MALY-DE 6 105307381 105307381 single base substitution G A intron_variant MALY-DE 6 105308451 105308451 insertion of <=200bp - A upstream_gene_variant MALY-DE 6 105310578 105310578 single base substitution A T upstream_gene_variant MELA-AU 6 105172163 105172163 single base substitution G A downstream_gene_variant MELA-AU 6 105172191 105172191 single base substitution G A downstream_gene_variant MELA-AU 6 105173116 105173116 single base substitution A G downstream_gene_variant MELA-AU 6 105173613 105173613 single base substitution C T downstream_gene_variant MELA-AU 6 105173857 105173858 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 6 105174046 105174046 single base substitution G A downstream_gene_variant MELA-AU 6 105174515 105174515 single base substitution G A downstream_gene_variant MELA-AU 6 105174699 105174699 single base substitution C T downstream_gene_variant MELA-AU 6 105174751 105174751 single base substitution C T downstream_gene_variant MELA-AU 6 105175413 105175413 single base substitution C T downstream_gene_variant MELA-AU 6 105175415 105175415 single base substitution C T downstream_gene_variant MELA-AU 6 105175585 105175585 single base substitution T C downstream_gene_variant MELA-AU 6 105175614 105175614 single base substitution A G downstream_gene_variant MELA-AU 6 105176222 105176222 single base substitution T C 3_prime_UTR_variant MELA-AU 6 105176222 105176222 single base substitution T C downstream_gene_variant MELA-AU 6 105176222 105176222 single base substitution T C exon_variant MELA-AU 6 105176257 105176257 single base substitution C T 3_prime_UTR_variant MELA-AU 6 105176257 105176257 single base substitution C T downstream_gene_variant MELA-AU 6 105176257 105176257 single base substitution C T exon_variant MELA-AU 6 105177672 105177672 single base substitution G A intron_variant MELA-AU 6 105178094 105178094 single base substitution C A intron_variant MELA-AU 6 105178370 105178370 single base substitution G A exon_variant MELA-AU 6 105178370 105178370 single base substitution G A intron_variant MELA-AU 6 105179016 105179016 single base substitution G A exon_variant MELA-AU 6 105179016 105179016 single base substitution G A intron_variant MELA-AU 6 105179262 105179262 single base substitution A G exon_variant MELA-AU 6 105179262 105179262 single base substitution A G intron_variant MELA-AU 6 105179509 105179509 single base substitution G A exon_variant MELA-AU 6 105179509 105179509 single base substitution G A intron_variant MELA-AU 6 105179658 105179658 single base substitution G A exon_variant MELA-AU 6 105179658 105179658 single base substitution G A intron_variant MELA-AU 6 105179835 105179835 single base substitution G A exon_variant MELA-AU 6 105179835 105179835 single base substitution G A intron_variant MELA-AU 6 105180178 105180178 single base substitution A G exon_variant MELA-AU 6 105180178 105180178 single base substitution A G intron_variant MELA-AU 6 105180690 105180690 single base substitution A G intron_variant MELA-AU 6 105180690 105180690 single base substitution A G upstream_gene_variant MELA-AU 6 105181220 105181220 single base substitution C G intron_variant MELA-AU 6 105181220 105181220 single base substitution C G upstream_gene_variant MELA-AU 6 105181294 105181294 single base substitution G A intron_variant MELA-AU 6 105181294 105181294 single base substitution G A upstream_gene_variant MELA-AU 6 105181884 105181884 single base substitution G A intron_variant MELA-AU 6 105181884 105181884 single base substitution G A upstream_gene_variant MELA-AU 6 105182387 105182387 single base substitution A G intron_variant MELA-AU 6 105182387 105182387 single base substitution A G upstream_gene_variant MELA-AU 6 105182732 105182732 single base substitution T C intron_variant MELA-AU 6 105182732 105182732 single base substitution T C upstream_gene_variant MELA-AU 6 105182768 105182768 single base substitution G A intron_variant MELA-AU 6 105182768 105182768 single base substitution G A upstream_gene_variant MELA-AU 6 105183115 105183115 single base substitution T C intron_variant MELA-AU 6 105183115 105183115 single base substitution T C upstream_gene_variant MELA-AU 6 105183728 105183728 single base substitution G A intron_variant MELA-AU 6 105183728 105183728 single base substitution G A upstream_gene_variant MELA-AU 6 105183933 105183933 single base substitution G A intron_variant MELA-AU 6 105183933 105183933 single base substitution G A upstream_gene_variant MELA-AU 6 105185910 105185910 single base substitution G A intron_variant MELA-AU 6 105186105 105186105 single base substitution G A intron_variant MELA-AU 6 105186464 105186464 single base substitution G A intron_variant MELA-AU 6 105189226 105189226 single base substitution G A intron_variant MELA-AU 6 105190375 105190376 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 6 105190376 105190376 single base substitution G A intron_variant MELA-AU 6 105191206 105191206 single base substitution A G intron_variant MELA-AU 6 105191545 105191545 single base substitution G A intron_variant MELA-AU 6 105191908 105191908 single base substitution A G intron_variant MELA-AU 6 105192514 105192514 single base substitution A T intron_variant MELA-AU 6 105192534 105192534 single base substitution G A intron_variant MELA-AU 6 105192896 105192896 single base substitution G A intron_variant MELA-AU 6 105192920 105192920 single base substitution G A intron_variant MELA-AU 6 105193650 105193650 single base substitution G A intron_variant MELA-AU 6 105193952 105193952 single base substitution C T intron_variant MELA-AU 6 105194194 105194194 single base substitution A G intron_variant MELA-AU 6 105194866 105194866 single base substitution G A intron_variant MELA-AU 6 105195353 105195353 single base substitution C T intron_variant MELA-AU 6 105195569 105195569 single base substitution T A intron_variant MELA-AU 6 105195598 105195598 single base substitution G A intron_variant MELA-AU 6 105195619 105195619 single base substitution G A intron_variant MELA-AU 6 105195782 105195782 single base substitution A C intron_variant MELA-AU 6 105195889 105195889 single base substitution C A intron_variant MELA-AU 6 105196411 105196411 single base substitution G A intron_variant MELA-AU 6 105196488 105196488 single base substitution T C intron_variant MELA-AU 6 105196710 105196710 single base substitution G A intron_variant MELA-AU 6 105197078 105197078 single base substitution G A intron_variant MELA-AU 6 105197409 105197409 single base substitution G A intron_variant MELA-AU 6 105197579 105197579 single base substitution C T intron_variant MELA-AU 6 105197927 105197927 single base substitution G A intron_variant MELA-AU 6 105197966 105197966 single base substitution G A intron_variant MELA-AU 6 105198385 105198386 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 6 105199735 105199735 single base substitution G A intron_variant MELA-AU 6 105199771 105199771 single base substitution T A intron_variant MELA-AU 6 105199924 105199924 single base substitution G A intron_variant MELA-AU 6 105200621 105200621 single base substitution T A intron_variant MELA-AU 6 105200909 105200909 single base substitution G A intron_variant MELA-AU 6 105200923 105200923 single base substitution G A intron_variant MELA-AU 6 105201124 105201124 single base substitution G A intron_variant MELA-AU 6 105201132 105201132 single base substitution G A intron_variant MELA-AU 6 105201494 105201494 single base substitution C T intron_variant MELA-AU 6 105201733 105201733 single base substitution G A intron_variant MELA-AU 6 105202077 105202077 single base substitution G A intron_variant MELA-AU 6 105202209 105202209 single base substitution G A intron_variant MELA-AU 6 105202242 105202242 single base substitution G A intron_variant MELA-AU 6 105202615 105202615 single base substitution G A intron_variant MELA-AU 6 105203149 105203149 single base substitution A C intron_variant MELA-AU 6 105203167 105203167 single base substitution G A intron_variant MELA-AU 6 105204094 105204094 single base substitution G A intron_variant MELA-AU 6 105204182 105204182 single base substitution G A intron_variant MELA-AU 6 105204560 105204560 single base substitution G A intron_variant MELA-AU 6 105205200 105205200 single base substitution G A intron_variant MELA-AU 6 105205438 105205438 single base substitution G A intron_variant MELA-AU 6 105205460 105205460 single base substitution G A intron_variant MELA-AU 6 105205546 105205546 single base substitution G A intron_variant MELA-AU 6 105205729 105205729 single base substitution G A intron_variant MELA-AU 6 105206148 105206148 single base substitution G A intron_variant MELA-AU 6 105206193 105206193 single base substitution A C intron_variant MELA-AU 6 105206363 105206363 single base substitution C A intron_variant MELA-AU 6 105207049 105207049 single base substitution G A intron_variant MELA-AU 6 105207120 105207120 single base substitution G A intron_variant MELA-AU 6 105207190 105207190 single base substitution G A intron_variant MELA-AU 6 105207836 105207836 single base substitution A T intron_variant MELA-AU 6 105208051 105208051 single base substitution G A intron_variant MELA-AU 6 105208514 105208514 single base substitution G A intron_variant MELA-AU 6 105208930 105208930 single base substitution G A intron_variant MELA-AU 6 105209162 105209162 single base substitution G A intron_variant MELA-AU 6 105209353 105209353 single base substitution G A intron_variant MELA-AU 6 105210642 105210642 single base substitution G A intron_variant MELA-AU 6 105210702 105210702 single base substitution A G intron_variant MELA-AU 6 105210757 105210757 single base substitution C T intron_variant MELA-AU 6 105210772 105210772 single base substitution G A intron_variant MELA-AU 6 105212088 105212088 single base substitution G A intron_variant MELA-AU 6 105212205 105212205 single base substitution G A intron_variant MELA-AU 6 105212949 105212949 single base substitution G A intron_variant MELA-AU 6 105212998 105212998 single base substitution G A intron_variant MELA-AU 6 105214054 105214055 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 105214172 105214173 multiple base substitution (>=2bp and <=200bp) TC CT intron_variant MELA-AU 6 105215000 105215000 single base substitution G A intron_variant MELA-AU 6 105215119 105215119 single base substitution G A intron_variant MELA-AU 6 105217708 105217708 single base substitution G A intron_variant MELA-AU 6 105218165 105218165 single base substitution A C intron_variant MELA-AU 6 105218291 105218291 single base substitution G A intron_variant MELA-AU 6 105218521 105218521 single base substitution G A intron_variant MELA-AU 6 105220601 105220601 single base substitution G A intron_variant MELA-AU 6 105221117 105221118 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 105221303 105221303 single base substitution G A intron_variant MELA-AU 6 105221658 105221658 single base substitution A G intron_variant MELA-AU 6 105221690 105221690 single base substitution G A intron_variant MELA-AU 6 105222324 105222324 single base substitution A G intron_variant MELA-AU 6 105223051 105223051 single base substitution C T intron_variant MELA-AU 6 105223626 105223626 single base substitution G A intron_variant MELA-AU 6 105224753 105224753 single base substitution G A intron_variant MELA-AU 6 105225365 105225365 single base substitution G A intron_variant MELA-AU 6 105225365 105225365 single base substitution G A upstream_gene_variant MELA-AU 6 105226224 105226224 single base substitution G A intron_variant MELA-AU 6 105226224 105226224 single base substitution G A upstream_gene_variant MELA-AU 6 105226358 105226358 single base substitution C T intron_variant MELA-AU 6 105226358 105226358 single base substitution C T upstream_gene_variant MELA-AU 6 105226494 105226494 single base substitution C T intron_variant MELA-AU 6 105226494 105226494 single base substitution C T upstream_gene_variant MELA-AU 6 105226517 105226517 single base substitution A T intron_variant MELA-AU 6 105226517 105226517 single base substitution A T upstream_gene_variant MELA-AU 6 105226729 105226729 single base substitution G A intron_variant MELA-AU 6 105226729 105226729 single base substitution G A upstream_gene_variant MELA-AU 6 105226862 105226862 single base substitution G A intron_variant MELA-AU 6 105226862 105226862 single base substitution G A upstream_gene_variant MELA-AU 6 105227194 105227194 single base substitution G A intron_variant MELA-AU 6 105227194 105227194 single base substitution G A upstream_gene_variant MELA-AU 6 105228505 105228505 single base substitution C T intron_variant MELA-AU 6 105228505 105228505 single base substitution C T upstream_gene_variant MELA-AU 6 105228543 105228543 single base substitution G A intron_variant MELA-AU 6 105228543 105228543 single base substitution G A upstream_gene_variant MELA-AU 6 105229083 105229083 single base substitution G A intron_variant MELA-AU 6 105229083 105229083 single base substitution G A upstream_gene_variant MELA-AU 6 105229497 105229497 single base substitution A G intron_variant MELA-AU 6 105229497 105229497 single base substitution A G upstream_gene_variant MELA-AU 6 105229832 105229832 single base substitution G A intron_variant MELA-AU 6 105229832 105229832 single base substitution G A upstream_gene_variant MELA-AU 6 105230075 105230075 single base substitution G A intron_variant MELA-AU 6 105230393 105230393 single base substitution G A intron_variant MELA-AU 6 105230393 105230393 single base substitution G A upstream_gene_variant MELA-AU 6 105231423 105231423 single base substitution G A intron_variant MELA-AU 6 105231423 105231423 single base substitution G A upstream_gene_variant MELA-AU 6 105231440 105231440 single base substitution G A intron_variant MELA-AU 6 105231440 105231440 single base substitution G A upstream_gene_variant MELA-AU 6 105232012 105232012 single base substitution G A 3_prime_UTR_variant MELA-AU 6 105232012 105232012 single base substitution G A exon_variant MELA-AU 6 105232012 105232012 single base substitution G A synonymous_variant L505L 1515C>T MELA-AU 6 105232012 105232012 single base substitution G A upstream_gene_variant MELA-AU 6 105232370 105232370 single base substitution G A intron_variant MELA-AU 6 105232370 105232370 single base substitution G A upstream_gene_variant MELA-AU 6 105232504 105232504 single base substitution G A intron_variant MELA-AU 6 105232504 105232504 single base substitution G A upstream_gene_variant MELA-AU 6 105233443 105233443 single base substitution G A exon_variant MELA-AU 6 105233443 105233443 single base substitution G A intron_variant MELA-AU 6 105233443 105233443 single base substitution G A upstream_gene_variant MELA-AU 6 105233794 105233794 single base substitution T C exon_variant MELA-AU 6 105233794 105233794 single base substitution T C intron_variant MELA-AU 6 105233794 105233794 single base substitution T C upstream_gene_variant MELA-AU 6 105233929 105233929 single base substitution G A exon_variant MELA-AU 6 105233929 105233929 single base substitution G A intron_variant MELA-AU 6 105233929 105233929 single base substitution G A upstream_gene_variant MELA-AU 6 105234193 105234193 single base substitution G A exon_variant MELA-AU 6 105234193 105234193 single base substitution G A intron_variant MELA-AU 6 105234193 105234193 single base substitution G A upstream_gene_variant MELA-AU 6 105235815 105235815 single base substitution C A intron_variant MELA-AU 6 105235815 105235815 single base substitution C A upstream_gene_variant MELA-AU 6 105236307 105236307 single base substitution G A intron_variant MELA-AU 6 105236307 105236307 single base substitution G A upstream_gene_variant MELA-AU 6 105236400 105236400 single base substitution C T intron_variant MELA-AU 6 105236400 105236400 single base substitution C T upstream_gene_variant MELA-AU 6 105236528 105236528 single base substitution A T intron_variant MELA-AU 6 105236528 105236528 single base substitution A T upstream_gene_variant MELA-AU 6 105236675 105236675 single base substitution C T intron_variant MELA-AU 6 105236675 105236675 single base substitution C T upstream_gene_variant MELA-AU 6 105236747 105236747 single base substitution A C intron_variant MELA-AU 6 105236747 105236747 single base substitution A C upstream_gene_variant MELA-AU 6 105236870 105236870 single base substitution G A intron_variant MELA-AU 6 105236870 105236870 single base substitution G A upstream_gene_variant MELA-AU 6 105236878 105236878 single base substitution G A intron_variant MELA-AU 6 105236878 105236878 single base substitution G A upstream_gene_variant MELA-AU 6 105237400 105237400 single base substitution G A intron_variant MELA-AU 6 105237400 105237400 single base substitution G A upstream_gene_variant MELA-AU 6 105238038 105238038 single base substitution A G intron_variant MELA-AU 6 105238038 105238038 single base substitution A G upstream_gene_variant MELA-AU 6 105238056 105238056 single base substitution G A intron_variant MELA-AU 6 105238056 105238056 single base substitution G A upstream_gene_variant MELA-AU 6 105238447 105238447 single base substitution G A intron_variant MELA-AU 6 105238447 105238447 single base substitution G A upstream_gene_variant MELA-AU 6 105238982 105238982 single base substitution A T intron_variant MELA-AU 6 105238982 105238982 single base substitution A T upstream_gene_variant MELA-AU 6 105239604 105239604 single base substitution C T downstream_gene_variant MELA-AU 6 105239604 105239604 single base substitution C T intron_variant MELA-AU 6 105239604 105239604 single base substitution C T upstream_gene_variant MELA-AU 6 105239691 105239691 single base substitution G A downstream_gene_variant MELA-AU 6 105239691 105239691 single base substitution G A intron_variant MELA-AU 6 105239691 105239691 single base substitution G A upstream_gene_variant MELA-AU 6 105240817 105240817 single base substitution G A downstream_gene_variant MELA-AU 6 105240817 105240817 single base substitution G A intron_variant MELA-AU 6 105241569 105241569 single base substitution G A downstream_gene_variant MELA-AU 6 105241569 105241569 single base substitution G A intron_variant MELA-AU 6 105242205 105242205 single base substitution G A downstream_gene_variant MELA-AU 6 105242205 105242205 single base substitution G A intron_variant MELA-AU 6 105242539 105242539 single base substitution G A downstream_gene_variant MELA-AU 6 105242539 105242539 single base substitution G A intron_variant MELA-AU 6 105242690 105242690 single base substitution G A downstream_gene_variant MELA-AU 6 105242690 105242690 single base substitution G A intron_variant MELA-AU 6 105242966 105242966 single base substitution G A downstream_gene_variant MELA-AU 6 105242966 105242966 single base substitution G A intron_variant MELA-AU 6 105243837 105243837 single base substitution G A downstream_gene_variant MELA-AU 6 105243837 105243837 single base substitution G A intron_variant MELA-AU 6 105244327 105244327 single base substitution G A downstream_gene_variant MELA-AU 6 105244327 105244327 single base substitution G A intron_variant MELA-AU 6 105244655 105244656 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 105244729 105244729 single base substitution G A intron_variant MELA-AU 6 105244793 105244793 single base substitution G A intron_variant MELA-AU 6 105245372 105245372 single base substitution A G intron_variant MELA-AU 6 105245428 105245428 single base substitution A G intron_variant MELA-AU 6 105245429 105245429 single base substitution A T intron_variant MELA-AU 6 105245623 105245623 single base substitution G A intron_variant MELA-AU 6 105245736 105245736 single base substitution G A intron_variant MELA-AU 6 105246505 105246506 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 105247354 105247354 single base substitution G A intron_variant MELA-AU 6 105247684 105247684 single base substitution G A intron_variant MELA-AU 6 105248377 105248377 single base substitution G A intron_variant MELA-AU 6 105248533 105248533 single base substitution G A intron_variant MELA-AU 6 105248963 105248963 single base substitution G A intron_variant MELA-AU 6 105249171 105249171 single base substitution G A intron_variant MELA-AU 6 105249402 105249402 single base substitution A T intron_variant MELA-AU 6 105249420 105249420 single base substitution G A intron_variant MELA-AU 6 105249508 105249508 single base substitution G A intron_variant MELA-AU 6 105249622 105249622 single base substitution G A intron_variant MELA-AU 6 105250114 105250114 single base substitution G A intron_variant MELA-AU 6 105250383 105250383 single base substitution A G intron_variant MELA-AU 6 105250996 105250996 single base substitution G A intron_variant MELA-AU 6 105251219 105251219 single base substitution A T intron_variant MELA-AU 6 105252296 105252296 single base substitution A T intron_variant MELA-AU 6 105252481 105252481 single base substitution G A intron_variant MELA-AU 6 105252504 105252504 single base substitution T C intron_variant MELA-AU 6 105252585 105252585 single base substitution G A intron_variant MELA-AU 6 105252973 105252973 single base substitution G A intron_variant MELA-AU 6 105253411 105253411 single base substitution G A intron_variant MELA-AU 6 105253554 105253554 single base substitution G A intron_variant MELA-AU 6 105253595 105253595 single base substitution G A intron_variant MELA-AU 6 105253839 105253839 deletion of <=200bp G - intron_variant MELA-AU 6 105254502 105254502 single base substitution G T intron_variant MELA-AU 6 105254525 105254525 single base substitution A C intron_variant MELA-AU 6 105254642 105254642 single base substitution G A intron_variant MELA-AU 6 105254752 105254752 single base substitution C A intron_variant MELA-AU 6 105255854 105255854 single base substitution G A intron_variant MELA-AU 6 105256261 105256261 single base substitution C T intron_variant MELA-AU 6 105256428 105256428 deletion of <=200bp A - intron_variant MELA-AU 6 105256847 105256847 single base substitution G A intron_variant MELA-AU 6 105257200 105257201 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 105257291 105257291 single base substitution C T intron_variant MELA-AU 6 105257649 105257649 single base substitution A G intron_variant MELA-AU 6 105257809 105257809 single base substitution G A intron_variant MELA-AU 6 105257985 105257985 single base substitution C T intron_variant MELA-AU 6 105257992 105257992 single base substitution G A intron_variant MELA-AU 6 105258043 105258043 single base substitution G A intron_variant MELA-AU 6 105258336 105258336 single base substitution C T intron_variant MELA-AU 6 105258710 105258710 single base substitution G A intron_variant MELA-AU 6 105258746 105258746 single base substitution G A intron_variant MELA-AU 6 105259726 105259726 single base substitution C A intron_variant MELA-AU 6 105259861 105259861 single base substitution T A intron_variant MELA-AU 6 105260516 105260516 single base substitution G A intron_variant MELA-AU 6 105260927 105260927 single base substitution C T intron_variant MELA-AU 6 105261155 105261155 single base substitution G A intron_variant MELA-AU 6 105261551 105261551 single base substitution C A intron_variant MELA-AU 6 105262175 105262175 single base substitution G A intron_variant MELA-AU 6 105262433 105262433 single base substitution G A intron_variant MELA-AU 6 105262707 105262707 single base substitution G A intron_variant MELA-AU 6 105263012 105263012 single base substitution G A intron_variant MELA-AU 6 105263333 105263333 single base substitution C T intron_variant MELA-AU 6 105265682 105265690 deletion of <=200bp ACCTTCTTA - intron_variant MELA-AU 6 105265994 105265994 single base substitution G A intron_variant MELA-AU 6 105266004 105266004 single base substitution A T intron_variant MELA-AU 6 105266709 105266709 single base substitution G A intron_variant MELA-AU 6 105267009 105267009 single base substitution G A intron_variant MELA-AU 6 105267429 105267429 single base substitution G A intron_variant MELA-AU 6 105267430 105267430 single base substitution G A intron_variant MELA-AU 6 105267476 105267476 single base substitution A C intron_variant MELA-AU 6 105267545 105267545 single base substitution G A intron_variant MELA-AU 6 105267832 105267832 single base substitution G A intron_variant MELA-AU 6 105267906 105267906 single base substitution C T intron_variant MELA-AU 6 105267997 105267997 single base substitution G A intron_variant MELA-AU 6 105268974 105268974 single base substitution A T intron_variant MELA-AU 6 105269198 105269198 single base substitution C T intron_variant MELA-AU 6 105269684 105269684 single base substitution G A intron_variant MELA-AU 6 105269686 105269686 single base substitution C G intron_variant MELA-AU 6 105270168 105270168 single base substitution G A intron_variant MELA-AU 6 105270556 105270556 single base substitution A T intron_variant MELA-AU 6 105271002 105271002 single base substitution G A intron_variant MELA-AU 6 105271009 105271009 single base substitution A G intron_variant MELA-AU 6 105271117 105271117 single base substitution T C intron_variant MELA-AU 6 105271565 105271565 single base substitution G A intron_variant MELA-AU 6 105272052 105272052 single base substitution A C intron_variant MELA-AU 6 105272536 105272536 single base substitution C T intron_variant MELA-AU 6 105272632 105272632 single base substitution G A intron_variant MELA-AU 6 105272739 105272739 single base substitution G A 3_prime_UTR_variant MELA-AU 6 105272739 105272739 single base substitution G A intron_variant MELA-AU 6 105272799 105272799 single base substitution A T intron_variant MELA-AU 6 105273307 105273307 single base substitution A G intron_variant MELA-AU 6 105273400 105273400 single base substitution G A intron_variant MELA-AU 6 105274300 105274300 single base substitution G A intron_variant MELA-AU 6 105274770 105274770 single base substitution G A intron_variant MELA-AU 6 105274796 105274796 single base substitution G A intron_variant MELA-AU 6 105274896 105274896 single base substitution A G intron_variant MELA-AU 6 105275032 105275032 single base substitution A G intron_variant MELA-AU 6 105275100 105275100 single base substitution G A intron_variant MELA-AU 6 105276166 105276166 single base substitution G A downstream_gene_variant MELA-AU 6 105276166 105276166 single base substitution G A intron_variant MELA-AU 6 105278446 105278446 single base substitution G A downstream_gene_variant MELA-AU 6 105278446 105278446 single base substitution G A intron_variant MELA-AU 6 105278590 105278590 single base substitution T A downstream_gene_variant MELA-AU 6 105278590 105278590 single base substitution T A intron_variant MELA-AU 6 105279188 105279188 single base substitution G T downstream_gene_variant MELA-AU 6 105279188 105279188 single base substitution G T intron_variant MELA-AU 6 105279387 105279387 single base substitution G A downstream_gene_variant MELA-AU 6 105279387 105279387 single base substitution G A intron_variant MELA-AU 6 105279663 105279663 single base substitution G A downstream_gene_variant MELA-AU 6 105279663 105279663 single base substitution G A intron_variant MELA-AU 6 105279912 105279912 single base substitution G A downstream_gene_variant MELA-AU 6 105279912 105279912 single base substitution G A intron_variant MELA-AU 6 105280393 105280393 single base substitution G A downstream_gene_variant MELA-AU 6 105280393 105280393 single base substitution G A intron_variant MELA-AU 6 105280593 105280593 single base substitution A G downstream_gene_variant MELA-AU 6 105280593 105280593 single base substitution A G intron_variant MELA-AU 6 105280646 105280646 single base substitution C T downstream_gene_variant MELA-AU 6 105280646 105280646 single base substitution C T intron_variant MELA-AU 6 105280958 105280958 single base substitution G A exon_variant MELA-AU 6 105280958 105280958 single base substitution G A intron_variant MELA-AU 6 105280958 105280958 single base substitution G A stop_gained Q131* 391C>T MELA-AU 6 105280958 105280958 single base substitution G A stop_gained Q165* 493C>T MELA-AU 6 105281412 105281412 single base substitution G A intron_variant MELA-AU 6 105281479 105281479 single base substitution G A intron_variant MELA-AU 6 105281946 105281946 single base substitution G A intron_variant MELA-AU 6 105282160 105282160 single base substitution G A intron_variant MELA-AU 6 105282464 105282464 single base substitution G A intron_variant MELA-AU 6 105283144 105283144 single base substitution C T intron_variant MELA-AU 6 105283206 105283206 single base substitution A G intron_variant MELA-AU 6 105283258 105283258 single base substitution G A intron_variant MELA-AU 6 105283395 105283395 single base substitution G A intron_variant MELA-AU 6 105284003 105284003 single base substitution A T intron_variant MELA-AU 6 105284351 105284351 single base substitution G A intron_variant MELA-AU 6 105284390 105284390 single base substitution C T intron_variant MELA-AU 6 105285051 105285051 single base substitution G A intron_variant MELA-AU 6 105285089 105285089 single base substitution G A intron_variant MELA-AU 6 105285409 105285409 single base substitution A C intron_variant MELA-AU 6 105285745 105285745 single base substitution A G intron_variant MELA-AU 6 105286730 105286730 single base substitution A G downstream_gene_variant MELA-AU 6 105286730 105286730 single base substitution A G intron_variant MELA-AU 6 105286814 105286814 single base substitution A T downstream_gene_variant MELA-AU 6 105286814 105286814 single base substitution A T intron_variant MELA-AU 6 105287005 105287005 single base substitution G A downstream_gene_variant MELA-AU 6 105287005 105287005 single base substitution G A intron_variant MELA-AU 6 105287226 105287226 single base substitution G A downstream_gene_variant MELA-AU 6 105287226 105287226 single base substitution G A intron_variant MELA-AU 6 105287395 105287396 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 6 105287395 105287396 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 105287628 105287628 single base substitution C T downstream_gene_variant MELA-AU 6 105287628 105287628 single base substitution C T intron_variant MELA-AU 6 105287694 105287694 single base substitution A T downstream_gene_variant MELA-AU 6 105287694 105287694 single base substitution A T intron_variant MELA-AU 6 105288191 105288191 single base substitution A T downstream_gene_variant MELA-AU 6 105288191 105288191 single base substitution A T intron_variant MELA-AU 6 105288302 105288302 single base substitution A G downstream_gene_variant MELA-AU 6 105288302 105288302 single base substitution A G intron_variant MELA-AU 6 105288626 105288626 single base substitution G A downstream_gene_variant MELA-AU 6 105288626 105288626 single base substitution G A intron_variant MELA-AU 6 105288715 105288715 single base substitution G A downstream_gene_variant MELA-AU 6 105288715 105288715 single base substitution G A intron_variant MELA-AU 6 105289229 105289229 single base substitution A C downstream_gene_variant MELA-AU 6 105289229 105289229 single base substitution A C intron_variant MELA-AU 6 105289940 105289940 single base substitution G A downstream_gene_variant MELA-AU 6 105289940 105289940 single base substitution G A intron_variant MELA-AU 6 105290378 105290378 single base substitution G A downstream_gene_variant MELA-AU 6 105290378 105290378 single base substitution G A intron_variant MELA-AU 6 105290472 105290472 single base substitution G A downstream_gene_variant MELA-AU 6 105290472 105290472 single base substitution G A intron_variant MELA-AU 6 105291106 105291106 single base substitution G A 3_prime_UTR_variant MELA-AU 6 105291106 105291106 single base substitution G A exon_variant MELA-AU 6 105291106 105291106 single base substitution G A missense_variant L132F 394C>T MELA-AU 6 105291106 105291106 single base substitution G A missense_variant L98F 292C>T MELA-AU 6 105291190 105291191 multiple base substitution (>=2bp and <=200bp) GT CA intron_variant MELA-AU 6 105291523 105291523 single base substitution T C intron_variant MELA-AU 6 105291662 105291663 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 6 105291716 105291717 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 6 105291825 105291826 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 105292240 105292240 single base substitution G A intron_variant MELA-AU 6 105292619 105292619 single base substitution C T intron_variant MELA-AU 6 105293500 105293500 single base substitution C T intron_variant MELA-AU 6 105293856 105293856 single base substitution G A intron_variant MELA-AU 6 105294112 105294112 single base substitution A C intron_variant MELA-AU 6 105297446 105297446 single base substitution G A intron_variant MELA-AU 6 105297462 105297462 single base substitution C T intron_variant MELA-AU 6 105298398 105298398 single base substitution G A intron_variant MELA-AU 6 105298527 105298527 single base substitution G A intron_variant MELA-AU 6 105298583 105298583 single base substitution G A intron_variant MELA-AU 6 105299596 105299596 single base substitution A T intron_variant MELA-AU 6 105299616 105299616 single base substitution A T intron_variant MELA-AU 6 105299988 105299988 single base substitution G A intron_variant MELA-AU 6 105300562 105300562 single base substitution G A intron_variant MELA-AU 6 105301246 105301246 single base substitution G A intron_variant MELA-AU 6 105301451 105301451 single base substitution G A intron_variant MELA-AU 6 105301895 105301895 single base substitution C T intron_variant MELA-AU 6 105301966 105301966 single base substitution T C intron_variant MELA-AU 6 105302034 105302034 single base substitution G A intron_variant MELA-AU 6 105302467 105302467 single base substitution G A intron_variant MELA-AU 6 105304373 105304373 single base substitution G A intron_variant MELA-AU 6 105304929 105304929 single base substitution T A intron_variant MELA-AU 6 105304941 105304941 single base substitution C A intron_variant MELA-AU 6 105305293 105305293 single base substitution G A intron_variant MELA-AU 6 105305729 105305730 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 105306917 105306917 single base substitution C T intron_variant MELA-AU 6 105306964 105306964 single base substitution C T intron_variant MELA-AU 6 105307098 105307099 multiple base substitution (>=2bp and <=200bp) CA AT intron_variant MELA-AU 6 105307321 105307321 single base substitution A T 5_prime_UTR_variant MELA-AU 6 105307321 105307321 single base substitution A T intron_variant MELA-AU 6 105307723 105307723 single base substitution C T 5_prime_UTR_variant MELA-AU 6 105307723 105307723 single base substitution C T upstream_gene_variant MELA-AU 6 105308680 105308680 single base substitution C T upstream_gene_variant MELA-AU 6 105309150 105309150 single base substitution C T upstream_gene_variant MELA-AU 6 105309284 105309284 single base substitution A C upstream_gene_variant MELA-AU 6 105309287 105309287 single base substitution G A upstream_gene_variant MELA-AU 6 105309348 105309348 single base substitution A G upstream_gene_variant MELA-AU 6 105310223 105310223 single base substitution G A upstream_gene_variant MELA-AU 6 105310331 105310331 single base substitution G A upstream_gene_variant MELA-AU 6 105310634 105310634 single base substitution C T upstream_gene_variant MELA-AU 6 105310924 105310924 single base substitution C T upstream_gene_variant MELA-AU 6 105310964 105310964 single base substitution G A upstream_gene_variant MELA-AU 6 105311257 105311257 single base substitution C T upstream_gene_variant MELA-AU 6 105312052 105312052 single base substitution G A upstream_gene_variant MELA-AU 6 105312091 105312091 single base substitution C T upstream_gene_variant MELA-AU 6 105312190 105312190 single base substitution G A upstream_gene_variant MELA-AU 6 105312345 105312345 single base substitution C T upstream_gene_variant ORCA-IN 6 105192292 105192292 single base substitution G A intron_variant ORCA-IN 6 105196709 105196709 single base substitution C T intron_variant ORCA-IN 6 105240803 105240803 single base substitution C A downstream_gene_variant ORCA-IN 6 105240803 105240803 single base substitution C A intron_variant ORCA-IN 6 105255036 105255036 single base substitution C T intron_variant ORCA-IN 6 105259919 105259919 single base substitution G T intron_variant ORCA-IN 6 105268690 105268690 single base substitution G A intron_variant ORCA-IN 6 105274566 105274566 single base substitution A G intron_variant ORCA-IN 6 105277165 105277165 single base substitution C T downstream_gene_variant ORCA-IN 6 105277165 105277165 single base substitution C T intron_variant ORCA-IN 6 105281611 105281611 single base substitution C T intron_variant ORCA-IN 6 105290329 105290329 single base substitution G A downstream_gene_variant ORCA-IN 6 105290329 105290329 single base substitution G A intron_variant OV-AU 6 105172658 105172658 single base substitution C T downstream_gene_variant OV-AU 6 105185032 105185032 single base substitution T G intron_variant OV-AU 6 105185032 105185032 single base substitution T G upstream_gene_variant OV-AU 6 105193138 105193138 single base substitution C A intron_variant OV-AU 6 105194232 105194232 single base substitution C T intron_variant OV-AU 6 105196276 105196276 single base substitution C T intron_variant OV-AU 6 105199635 105199635 single base substitution T A intron_variant OV-AU 6 105202281 105202281 single base substitution C T intron_variant OV-AU 6 105210395 105210395 single base substitution G C intron_variant OV-AU 6 105223153 105223153 single base substitution G A intron_variant OV-AU 6 105233372 105233372 single base substitution T A exon_variant OV-AU 6 105233372 105233372 single base substitution T A intron_variant OV-AU 6 105233372 105233372 single base substitution T A upstream_gene_variant OV-AU 6 105237680 105237680 single base substitution G C intron_variant OV-AU 6 105237680 105237680 single base substitution G C upstream_gene_variant OV-AU 6 105237977 105237977 single base substitution A G intron_variant OV-AU 6 105237977 105237977 single base substitution A G upstream_gene_variant OV-AU 6 105238611 105238611 single base substitution C A intron_variant OV-AU 6 105238611 105238611 single base substitution C A upstream_gene_variant OV-AU 6 105240579 105240579 single base substitution T A downstream_gene_variant OV-AU 6 105240579 105240579 single base substitution T A intron_variant OV-AU 6 105245163 105245163 single base substitution G A intron_variant OV-AU 6 105246527 105246527 single base substitution T C intron_variant OV-AU 6 105253039 105253039 single base substitution C G intron_variant OV-AU 6 105262183 105262183 single base substitution G C intron_variant OV-AU 6 105265349 105265349 single base substitution T A intron_variant OV-AU 6 105271995 105271995 single base substitution C A intron_variant OV-AU 6 105274766 105274766 single base substitution G C intron_variant OV-AU 6 105275013 105275013 single base substitution A G intron_variant OV-AU 6 105279078 105279078 single base substitution T A downstream_gene_variant OV-AU 6 105279078 105279078 single base substitution T A intron_variant OV-AU 6 105279851 105279851 single base substitution A G downstream_gene_variant OV-AU 6 105279851 105279851 single base substitution A G intron_variant OV-AU 6 105280357 105280357 single base substitution C A downstream_gene_variant OV-AU 6 105280357 105280357 single base substitution C A intron_variant OV-AU 6 105281720 105281720 single base substitution C T intron_variant OV-AU 6 105286185 105286185 single base substitution C G downstream_gene_variant OV-AU 6 105286185 105286185 single base substitution C G intron_variant OV-AU 6 105286603 105286603 single base substitution G A downstream_gene_variant OV-AU 6 105286603 105286603 single base substitution G A intron_variant OV-AU 6 105286985 105286985 single base substitution G T downstream_gene_variant OV-AU 6 105286985 105286985 single base substitution G T intron_variant OV-AU 6 105290554 105290554 single base substitution G A downstream_gene_variant OV-AU 6 105290554 105290554 single base substitution G A intron_variant OV-AU 6 105290881 105290881 single base substitution G T downstream_gene_variant OV-AU 6 105290881 105290881 single base substitution G T intron_variant OV-AU 6 105294034 105294034 single base substitution C T intron_variant OV-AU 6 105295213 105295213 single base substitution T A intron_variant OV-AU 6 105304723 105304723 single base substitution C T intron_variant OV-AU 6 105309043 105309043 single base substitution C T upstream_gene_variant OV-AU 6 105309223 105309223 single base substitution G A upstream_gene_variant OV-AU 6 105311563 105311563 single base substitution G A upstream_gene_variant OV-AU 6 105311650 105311650 single base substitution C T upstream_gene_variant OV-US 6 105198338 105198338 single base substitution C G 3_prime_UTR_variant OV-US 6 105198338 105198338 single base substitution C G exon_variant OV-US 6 105198338 105198338 single base substitution C G intron_variant OV-US 6 105198338 105198338 single base substitution C G missense_variant V526L 1576G>C OV-US 6 105198338 105198338 single base substitution C G missense_variant V741L 2221G>C PACA-AU 6 105178325 105178325 single base substitution G T exon_variant PACA-AU 6 105178325 105178325 single base substitution G T intron_variant PACA-AU 6 105179509 105179509 single base substitution G A exon_variant PACA-AU 6 105179509 105179509 single base substitution G A intron_variant PACA-AU 6 105181921 105181921 single base substitution G A intron_variant PACA-AU 6 105181921 105181921 single base substitution G A upstream_gene_variant PACA-AU 6 105183485 105183485 single base substitution G A intron_variant PACA-AU 6 105183485 105183485 single base substitution G A upstream_gene_variant PACA-AU 6 105191444 105191444 single base substitution A G intron_variant PACA-AU 6 105194093 105194093 single base substitution C T intron_variant PACA-AU 6 105194952 105194952 single base substitution G C intron_variant PACA-AU 6 105207393 105207393 single base substitution C T intron_variant PACA-AU 6 105213841 105213841 single base substitution A C intron_variant PACA-AU 6 105213860 105213860 single base substitution C T intron_variant PACA-AU 6 105214129 105214129 insertion of <=200bp - A intron_variant PACA-AU 6 105216857 105216857 deletion of <=200bp G - intron_variant PACA-AU 6 105227263 105227263 single base substitution T A intron_variant PACA-AU 6 105227263 105227263 single base substitution T A upstream_gene_variant PACA-AU 6 105227264 105227264 single base substitution A T intron_variant PACA-AU 6 105227264 105227264 single base substitution A T upstream_gene_variant PACA-AU 6 105233194 105233194 single base substitution G A exon_variant PACA-AU 6 105233194 105233194 single base substitution G A missense_variant P359S 1075C>T PACA-AU 6 105233194 105233194 single base substitution G A splice_region_variant PACA-AU 6 105233194 105233194 single base substitution G A upstream_gene_variant PACA-AU 6 105239234 105239234 single base substitution G C intron_variant PACA-AU 6 105239234 105239234 single base substitution G C upstream_gene_variant PACA-AU 6 105242847 105242847 single base substitution A G downstream_gene_variant PACA-AU 6 105242847 105242847 single base substitution A G intron_variant PACA-AU 6 105245540 105245540 single base substitution G C intron_variant PACA-AU 6 105247785 105247785 insertion of <=200bp - CCAAAGTAGGGCGGGGCAT intron_variant PACA-AU 6 105257073 105257073 single base substitution C T intron_variant PACA-AU 6 105265006 105265006 single base substitution C G intron_variant PACA-AU 6 105268113 105268113 single base substitution C T intron_variant PACA-AU 6 105274735 105274735 single base substitution A C intron_variant PACA-AU 6 105277777 105277777 single base substitution G A downstream_gene_variant PACA-AU 6 105277777 105277777 single base substitution G A intron_variant PACA-AU 6 105278913 105278913 single base substitution G A downstream_gene_variant PACA-AU 6 105278913 105278913 single base substitution G A intron_variant PACA-AU 6 105281023 105281023 single base substitution C T exon_variant PACA-AU 6 105281023 105281023 single base substitution C T intron_variant PACA-AU 6 105281023 105281023 single base substitution C T missense_variant R109Q 326G>A PACA-AU 6 105281023 105281023 single base substitution C T missense_variant R143Q 428G>A PACA-AU 6 105281584 105281584 single base substitution G A intron_variant PACA-AU 6 105281913 105281913 single base substitution G T intron_variant PACA-AU 6 105288628 105288628 single base substitution C A downstream_gene_variant PACA-AU 6 105288628 105288628 single base substitution C A intron_variant PACA-AU 6 105288899 105288899 single base substitution G C downstream_gene_variant PACA-AU 6 105288899 105288899 single base substitution G C intron_variant PACA-AU 6 105293813 105293813 single base substitution A G intron_variant PACA-AU 6 105309134 105309134 single base substitution G A upstream_gene_variant PACA-AU 6 105311650 105311650 single base substitution C T upstream_gene_variant PACA-CA 6 105172179 105172179 single base substitution C T downstream_gene_variant PACA-CA 6 105172558 105172558 single base substitution T C downstream_gene_variant PACA-CA 6 105173143 105173143 single base substitution C T downstream_gene_variant PACA-CA 6 105173204 105173204 deletion of <=200bp A - downstream_gene_variant PACA-CA 6 105175039 105175039 single base substitution C T downstream_gene_variant PACA-CA 6 105175710 105175710 single base substitution T A downstream_gene_variant PACA-CA 6 105176704 105176704 deletion of <=200bp A - 3_prime_UTR_variant PACA-CA 6 105176704 105176704 deletion of <=200bp A - downstream_gene_variant PACA-CA 6 105176704 105176704 deletion of <=200bp A - exon_variant PACA-CA 6 105183817 105183817 single base substitution T C intron_variant PACA-CA 6 105183817 105183817 single base substitution T C upstream_gene_variant PACA-CA 6 105187108 105187108 single base substitution C A intron_variant PACA-CA 6 105194156 105194156 single base substitution T C intron_variant PACA-CA 6 105196709 105196709 single base substitution C T intron_variant PACA-CA 6 105196993 105196993 insertion of <=200bp - T intron_variant PACA-CA 6 105197877 105197877 single base substitution A G intron_variant PACA-CA 6 105198293 105198293 single base substitution G A 3_prime_UTR_variant PACA-CA 6 105198293 105198293 single base substitution G A exon_variant PACA-CA 6 105198293 105198293 single base substitution G A intron_variant PACA-CA 6 105198293 105198293 single base substitution G A stop_gained Q541* 1621C>T PACA-CA 6 105198293 105198293 single base substitution G A stop_gained Q756* 2266C>T PACA-CA 6 105202361 105202361 single base substitution A T intron_variant PACA-CA 6 105207307 105207307 single base substitution C T intron_variant PACA-CA 6 105208049 105208049 single base substitution G T intron_variant PACA-CA 6 105210576 105210576 single base substitution T A intron_variant PACA-CA 6 105211480 105211480 single base substitution A G intron_variant PACA-CA 6 105211728 105211728 single base substitution C T intron_variant PACA-CA 6 105217754 105217754 single base substitution A C intron_variant PACA-CA 6 105223151 105223151 single base substitution T G intron_variant PACA-CA 6 105224423 105224423 single base substitution C A intron_variant PACA-CA 6 105228157 105228158 deletion of <=200bp AC - intron_variant PACA-CA 6 105228157 105228158 deletion of <=200bp AC - upstream_gene_variant PACA-CA 6 105229680 105229680 single base substitution T A intron_variant PACA-CA 6 105229680 105229680 single base substitution T A upstream_gene_variant PACA-CA 6 105231464 105231464 single base substitution C G intron_variant PACA-CA 6 105231464 105231464 single base substitution C G upstream_gene_variant PACA-CA 6 105238908 105238908 single base substitution G C intron_variant PACA-CA 6 105238908 105238908 single base substitution G C upstream_gene_variant PACA-CA 6 105242801 105242801 single base substitution G A downstream_gene_variant PACA-CA 6 105242801 105242801 single base substitution G A intron_variant PACA-CA 6 105243557 105243557 deletion of <=200bp G - 3_prime_UTR_variant PACA-CA 6 105243557 105243557 deletion of <=200bp G - downstream_gene_variant PACA-CA 6 105243557 105243557 deletion of <=200bp G - frameshift_variant R274 PACA-CA 6 105246328 105246328 single base substitution C T intron_variant PACA-CA 6 105246962 105246962 single base substitution G A intron_variant PACA-CA 6 105251427 105251427 single base substitution G A intron_variant PACA-CA 6 105254823 105254823 single base substitution G A intron_variant PACA-CA 6 105258595 105258595 single base substitution G A intron_variant PACA-CA 6 105262289 105262289 single base substitution G A intron_variant PACA-CA 6 105264210 105264210 single base substitution C T intron_variant PACA-CA 6 105264948 105264948 single base substitution G A intron_variant PACA-CA 6 105267383 105267383 single base substitution T C intron_variant PACA-CA 6 105276639 105276639 single base substitution A G downstream_gene_variant PACA-CA 6 105276639 105276639 single base substitution A G intron_variant PACA-CA 6 105276812 105276812 single base substitution T C downstream_gene_variant PACA-CA 6 105276812 105276812 single base substitution T C intron_variant PACA-CA 6 105279496 105279496 single base substitution C T downstream_gene_variant PACA-CA 6 105279496 105279496 single base substitution C T intron_variant PACA-CA 6 105280554 105280554 single base substitution C T downstream_gene_variant PACA-CA 6 105280554 105280554 single base substitution C T intron_variant PACA-CA 6 105282369 105282369 insertion of <=200bp - T intron_variant PACA-CA 6 105282937 105282937 single base substitution C T intron_variant PACA-CA 6 105288638 105288638 single base substitution A G downstream_gene_variant PACA-CA 6 105288638 105288638 single base substitution A G intron_variant PACA-CA 6 105289186 105289186 single base substitution G T downstream_gene_variant PACA-CA 6 105289186 105289186 single base substitution G T intron_variant PACA-CA 6 105291412 105291412 single base substitution A G intron_variant PACA-CA 6 105291458 105291458 single base substitution C T intron_variant PACA-CA 6 105301053 105301053 single base substitution G A intron_variant PAEN-AU 6 105222938 105222938 single base substitution C A intron_variant PAEN-AU 6 105278821 105278821 single base substitution T C downstream_gene_variant PAEN-AU 6 105278821 105278821 single base substitution T C intron_variant PAEN-AU 6 105279785 105279785 deletion of <=200bp A - downstream_gene_variant PAEN-AU 6 105279785 105279785 deletion of <=200bp A - intron_variant PAEN-IT 6 105200991 105200991 single base substitution T G intron_variant PAEN-IT 6 105205860 105205860 single base substitution C A intron_variant PAEN-IT 6 105294515 105294515 single base substitution G A intron_variant PBCA-DE 6 105175594 105175595 deletion of <=200bp AT - downstream_gene_variant PBCA-DE 6 105193331 105193331 insertion of <=200bp - TTTTTTTTTTT intron_variant PBCA-DE 6 105198617 105198620 deletion of <=200bp ACTA - intron_variant PBCA-DE 6 105209811 105209811 single base substitution A G intron_variant PBCA-DE 6 105226251 105226251 insertion of <=200bp - AT intron_variant PBCA-DE 6 105226251 105226251 insertion of <=200bp - AT upstream_gene_variant PBCA-DE 6 105230362 105230362 single base substitution A T intron_variant PBCA-DE 6 105230362 105230362 single base substitution A T upstream_gene_variant PBCA-DE 6 105247785 105247785 insertion of <=200bp - CCAAAGTAGGGCGGGGCAT intron_variant PBCA-DE 6 105268932 105268932 single base substitution A G intron_variant PBCA-DE 6 105274181 105274181 insertion of <=200bp - A intron_variant PBCA-DE 6 105300686 105300686 single base substitution T A intron_variant PBCA-DE 6 105305078 105305079 deletion of <=200bp AT - intron_variant PRAD-CA 6 105175210 105175210 single base substitution G A downstream_gene_variant PRAD-CA 6 105175710 105175710 single base substitution T A downstream_gene_variant PRAD-CA 6 105181608 105181608 single base substitution T A intron_variant PRAD-CA 6 105181608 105181608 single base substitution T A upstream_gene_variant PRAD-CA 6 105182644 105182644 single base substitution G T intron_variant PRAD-CA 6 105182644 105182644 single base substitution G T upstream_gene_variant PRAD-CA 6 105183483 105183483 single base substitution A G intron_variant PRAD-CA 6 105183483 105183483 single base substitution A G upstream_gene_variant PRAD-CA 6 105185112 105185112 single base substitution C T intron_variant PRAD-CA 6 105185112 105185112 single base substitution C T upstream_gene_variant PRAD-CA 6 105194651 105194651 single base substitution A G intron_variant PRAD-CA 6 105215715 105215715 single base substitution T C intron_variant PRAD-CA 6 105216814 105216814 single base substitution T A intron_variant PRAD-CA 6 105264897 105264897 single base substitution C G intron_variant PRAD-CA 6 105270308 105270308 single base substitution G A intron_variant PRAD-CA 6 105270965 105270965 single base substitution T A intron_variant PRAD-CA 6 105288927 105288927 single base substitution T C downstream_gene_variant PRAD-CA 6 105288927 105288927 single base substitution T C intron_variant PRAD-UK 6 105178107 105178107 single base substitution G T intron_variant PRAD-UK 6 105209575 105209575 single base substitution G T intron_variant PRAD-UK 6 105242516 105242516 single base substitution C T downstream_gene_variant PRAD-UK 6 105242516 105242516 single base substitution C T intron_variant PRAD-UK 6 105259332 105259332 single base substitution A C intron_variant PRAD-UK 6 105279457 105279457 single base substitution C A downstream_gene_variant PRAD-UK 6 105279457 105279457 single base substitution C A intron_variant PRAD-UK 6 105299616 105299616 deletion of <=200bp A - intron_variant PRAD-UK 6 105299617 105299617 single base substitution T A intron_variant READ-US 6 105192041 105192041 single base substitution G A 3_prime_UTR_variant READ-US 6 105192041 105192041 single base substitution G A exon_variant READ-US 6 105192041 105192041 single base substitution G A missense_variant T226M 677C>T READ-US 6 105192041 105192041 single base substitution G A missense_variant T255M 764C>T READ-US 6 105192041 105192041 single base substitution G A missense_variant T621M 1862C>T READ-US 6 105192041 105192041 single base substitution G A missense_variant T836M 2507C>T READ-US 6 105297107 105297107 single base substitution T A 3_prime_UTR_variant READ-US 6 105297107 105297107 single base substitution T A exon_variant READ-US 6 105297107 105297107 single base substitution T A missense_variant E45V 134A>T READ-US 6 105297107 105297107 single base substitution T A missense_variant E79V 236A>T RECA-EU 6 105175118 105175118 single base substitution G A downstream_gene_variant RECA-EU 6 105175518 105175518 single base substitution G A downstream_gene_variant RECA-EU 6 105175533 105175533 single base substitution C T downstream_gene_variant RECA-EU 6 105193876 105193876 single base substitution T A intron_variant RECA-EU 6 105195094 105195094 single base substitution G T intron_variant RECA-EU 6 105198276 105198276 single base substitution T G 3_prime_UTR_variant RECA-EU 6 105198276 105198276 single base substitution T G exon_variant RECA-EU 6 105198276 105198276 single base substitution T G intron_variant RECA-EU 6 105198276 105198276 single base substitution T G missense_variant L546F 1638A>C RECA-EU 6 105198276 105198276 single base substitution T G missense_variant L761F 2283A>C RECA-EU 6 105229777 105229777 single base substitution G T intron_variant RECA-EU 6 105229777 105229777 single base substitution G T upstream_gene_variant RECA-EU 6 105234746 105234746 single base substitution C T exon_variant RECA-EU 6 105234746 105234746 single base substitution C T intron_variant RECA-EU 6 105234746 105234746 single base substitution C T upstream_gene_variant RECA-EU 6 105240528 105240528 single base substitution A G downstream_gene_variant RECA-EU 6 105240528 105240528 single base substitution A G intron_variant RECA-EU 6 105245012 105245012 single base substitution C T intron_variant RECA-EU 6 105265035 105265035 single base substitution G A intron_variant RECA-EU 6 105268608 105268608 single base substitution C T intron_variant RECA-EU 6 105278651 105278651 single base substitution G T downstream_gene_variant RECA-EU 6 105278651 105278651 single base substitution G T intron_variant RECA-EU 6 105282218 105282218 single base substitution T A intron_variant RECA-EU 6 105284329 105284329 single base substitution T A intron_variant RECA-EU 6 105288782 105288782 single base substitution G C downstream_gene_variant RECA-EU 6 105288782 105288782 single base substitution G C intron_variant RECA-EU 6 105298229 105298229 single base substitution T A intron_variant RECA-EU 6 105300444 105300444 single base substitution C G intron_variant RECA-EU 6 105311909 105311909 single base substitution T C upstream_gene_variant SKCA-BR 6 105171297 105171297 single base substitution C T downstream_gene_variant SKCA-BR 6 105172158 105172158 single base substitution C A downstream_gene_variant SKCA-BR 6 105174683 105174683 single base substitution A G downstream_gene_variant SKCA-BR 6 105175194 105175194 single base substitution G A downstream_gene_variant SKCA-BR 6 105175195 105175197 deletion of <=200bp AAT - downstream_gene_variant SKCA-BR 6 105175437 105175437 single base substitution C T downstream_gene_variant SKCA-BR 6 105175439 105175439 single base substitution C T downstream_gene_variant SKCA-BR 6 105175442 105175450 deletion of <=200bp ACACGTATG - downstream_gene_variant SKCA-BR 6 105175492 105175494 deletion of <=200bp ACG - downstream_gene_variant SKCA-BR 6 105175533 105175533 single base substitution C T downstream_gene_variant SKCA-BR 6 105175542 105175542 single base substitution G A downstream_gene_variant SKCA-BR 6 105175557 105175557 single base substitution C T downstream_gene_variant SKCA-BR 6 105175570 105175570 single base substitution A G downstream_gene_variant SKCA-BR 6 105176528 105176528 single base substitution G A 3_prime_UTR_variant SKCA-BR 6 105176528 105176528 single base substitution G A downstream_gene_variant SKCA-BR 6 105176528 105176528 single base substitution G A exon_variant SKCA-BR 6 105177378 105177378 single base substitution G A 3_prime_UTR_variant SKCA-BR 6 105177378 105177378 single base substitution G A exon_variant SKCA-BR 6 105179582 105179582 single base substitution T A exon_variant SKCA-BR 6 105179582 105179582 single base substitution T A intron_variant SKCA-BR 6 105179689 105179689 single base substitution G A exon_variant SKCA-BR 6 105179689 105179689 single base substitution G A intron_variant SKCA-BR 6 105179981 105179981 single base substitution G A exon_variant SKCA-BR 6 105179981 105179981 single base substitution G A intron_variant SKCA-BR 6 105180414 105180417 deletion of <=200bp GAAA - intron_variant SKCA-BR 6 105180414 105180417 deletion of <=200bp GAAA - upstream_gene_variant SKCA-BR 6 105181375 105181375 single base substitution C A intron_variant SKCA-BR 6 105181375 105181375 single base substitution C A upstream_gene_variant SKCA-BR 6 105182301 105182301 single base substitution G A intron_variant SKCA-BR 6 105182301 105182301 single base substitution G A upstream_gene_variant SKCA-BR 6 105185620 105185620 single base substitution T G intron_variant SKCA-BR 6 105185626 105185626 single base substitution A G intron_variant SKCA-BR 6 105186292 105186292 single base substitution T C intron_variant SKCA-BR 6 105186589 105186589 single base substitution G A intron_variant SKCA-BR 6 105186870 105186870 single base substitution A G intron_variant SKCA-BR 6 105187728 105187728 single base substitution A G intron_variant SKCA-BR 6 105188437 105188437 single base substitution G A intron_variant SKCA-BR 6 105188985 105188985 insertion of <=200bp - AC intron_variant SKCA-BR 6 105189004 105189004 single base substitution C T intron_variant SKCA-BR 6 105189135 105189135 single base substitution C T intron_variant SKCA-BR 6 105189524 105189524 single base substitution G T intron_variant SKCA-BR 6 105189593 105189593 single base substitution G A intron_variant SKCA-BR 6 105190067 105190067 single base substitution T A intron_variant SKCA-BR 6 105190082 105190082 single base substitution A C intron_variant SKCA-BR 6 105190512 105190512 single base substitution G A intron_variant SKCA-BR 6 105193330 105193330 insertion of <=200bp - CTTTTTTTTTTTT intron_variant SKCA-BR 6 105193683 105193683 single base substitution C T intron_variant SKCA-BR 6 105196011 105196011 single base substitution C T intron_variant SKCA-BR 6 105201558 105201558 single base substitution G A intron_variant SKCA-BR 6 105202677 105202677 single base substitution G A intron_variant SKCA-BR 6 105202689 105202689 single base substitution A C intron_variant SKCA-BR 6 105205196 105205196 single base substitution T C intron_variant SKCA-BR 6 105205202 105205202 single base substitution A G intron_variant SKCA-BR 6 105206148 105206148 single base substitution G A intron_variant SKCA-BR 6 105206358 105206358 single base substitution C G intron_variant SKCA-BR 6 105206452 105206452 single base substitution A C intron_variant SKCA-BR 6 105207913 105207913 single base substitution G A intron_variant SKCA-BR 6 105210457 105210457 single base substitution G A intron_variant SKCA-BR 6 105220040 105220040 single base substitution C G intron_variant SKCA-BR 6 105223984 105223984 single base substitution A C intron_variant SKCA-BR 6 105226943 105226943 single base substitution G A intron_variant SKCA-BR 6 105226943 105226943 single base substitution G A upstream_gene_variant SKCA-BR 6 105227667 105227667 single base substitution G A intron_variant SKCA-BR 6 105227667 105227667 single base substitution G A upstream_gene_variant SKCA-BR 6 105232085 105232085 single base substitution A T intron_variant SKCA-BR 6 105232085 105232085 single base substitution A T upstream_gene_variant SKCA-BR 6 105233150 105233150 single base substitution T C 3_prime_UTR_variant SKCA-BR 6 105233150 105233150 single base substitution T C exon_variant SKCA-BR 6 105233150 105233150 single base substitution T C synonymous_variant L373L 1119A>G SKCA-BR 6 105233150 105233150 single base substitution T C upstream_gene_variant SKCA-BR 6 105233289 105233289 single base substitution G A exon_variant SKCA-BR 6 105233289 105233289 single base substitution G A intron_variant SKCA-BR 6 105233289 105233289 single base substitution G A upstream_gene_variant SKCA-BR 6 105235862 105235862 single base substitution A G intron_variant SKCA-BR 6 105235862 105235862 single base substitution A G upstream_gene_variant SKCA-BR 6 105247649 105247649 single base substitution G A intron_variant SKCA-BR 6 105247741 105247741 single base substitution C A intron_variant SKCA-BR 6 105247784 105247784 insertion of <=200bp - GCCAAAGTAGGGCGGGGCAT intron_variant SKCA-BR 6 105248035 105248035 single base substitution T G intron_variant SKCA-BR 6 105248372 105248372 single base substitution T C intron_variant SKCA-BR 6 105248861 105248861 single base substitution G A intron_variant SKCA-BR 6 105248968 105248968 single base substitution G A intron_variant SKCA-BR 6 105249908 105249908 insertion of <=200bp - CA intron_variant SKCA-BR 6 105250798 105250798 single base substitution G A intron_variant SKCA-BR 6 105252017 105252017 single base substitution G A intron_variant SKCA-BR 6 105257684 105257684 single base substitution G A intron_variant SKCA-BR 6 105257747 105257747 single base substitution G A intron_variant SKCA-BR 6 105259585 105259585 single base substitution G A intron_variant SKCA-BR 6 105259605 105259605 single base substitution T A intron_variant SKCA-BR 6 105262541 105262541 single base substitution C T intron_variant SKCA-BR 6 105263288 105263288 single base substitution G A intron_variant SKCA-BR 6 105265653 105265653 single base substitution G A intron_variant SKCA-BR 6 105271705 105271705 single base substitution T A intron_variant SKCA-BR 6 105272477 105272477 single base substitution G A intron_variant SKCA-BR 6 105272956 105272956 insertion of <=200bp - CA intron_variant SKCA-BR 6 105274373 105274373 single base substitution A G intron_variant SKCA-BR 6 105278446 105278446 single base substitution G A downstream_gene_variant SKCA-BR 6 105278446 105278446 single base substitution G A intron_variant SKCA-BR 6 105279825 105279867 deletion of <=200bp GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAGGAAGGAAGGA - downstream_gene_variant SKCA-BR 6 105279825 105279867 deletion of <=200bp GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAGGAAGGAAGGA - intron_variant SKCA-BR 6 105279857 105279857 single base substitution G A downstream_gene_variant SKCA-BR 6 105279857 105279857 single base substitution G A intron_variant SKCA-BR 6 105281354 105281354 single base substitution G A intron_variant SKCA-BR 6 105282038 105282038 single base substitution G A intron_variant SKCA-BR 6 105285459 105285461 deletion of <=200bp CAA - intron_variant SKCA-BR 6 105286765 105286765 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 6 105286765 105286765 insertion of <=200bp - TA intron_variant SKCA-BR 6 105291618 105291618 single base substitution G A intron_variant SKCA-BR 6 105293330 105293330 single base substitution G A intron_variant SKCA-BR 6 105295463 105295463 single base substitution C A intron_variant SKCA-BR 6 105297824 105297825 deletion of <=200bp CT - intron_variant SKCA-BR 6 105300262 105300262 insertion of <=200bp - CAG intron_variant SKCA-BR 6 105307282 105307282 single base substitution G A 5_prime_UTR_variant SKCA-BR 6 105307282 105307282 single base substitution G A exon_variant SKCA-BR 6 105307282 105307282 single base substitution G A intron_variant SKCA-BR 6 105309848 105309848 single base substitution T G upstream_gene_variant SKCA-BR 6 105312794 105312794 single base substitution G A upstream_gene_variant SKCM-US 6 105178179 105178179 single base substitution A G missense_variant C266R 796T>C SKCM-US 6 105178179 105178179 single base substitution A G missense_variant C295R 883T>C SKCM-US 6 105178179 105178179 single base substitution A G missense_variant C661R 1981T>C SKCM-US 6 105178179 105178179 single base substitution A G missense_variant C876R 2626T>C SKCM-US 6 105178179 105178179 single base substitution A G splice_region_variant SKCM-US 6 105192055 105192055 single base substitution G A 3_prime_UTR_variant SKCM-US 6 105192055 105192055 single base substitution G A exon_variant SKCM-US 6 105192055 105192055 single base substitution G A splice_region_variant SKCM-US 6 105192055 105192055 single base substitution G A synonymous_variant L221L 663C>T SKCM-US 6 105192055 105192055 single base substitution G A synonymous_variant L616L 1848C>T SKCM-US 6 105192055 105192055 single base substitution G A synonymous_variant L831L 2493C>T SKCM-US 6 105198250 105198250 single base substitution G A 3_prime_UTR_variant SKCM-US 6 105198250 105198250 single base substitution G A exon_variant SKCM-US 6 105198250 105198250 single base substitution G A intron_variant SKCM-US 6 105198250 105198250 single base substitution G A missense_variant P555L 1664C>T SKCM-US 6 105198250 105198250 single base substitution G A missense_variant P770L 2309C>T SKCM-US 6 105198315 105198315 single base substitution T C 3_prime_UTR_variant SKCM-US 6 105198315 105198315 single base substitution T C exon_variant SKCM-US 6 105198315 105198315 single base substitution T C intron_variant SKCM-US 6 105198315 105198315 single base substitution T C synonymous_variant R533R 1599A>G SKCM-US 6 105198315 105198315 single base substitution T C synonymous_variant R748R 2244A>G SKCM-US 6 105198317 105198317 single base substitution G A 3_prime_UTR_variant SKCM-US 6 105198317 105198317 single base substitution G A exon_variant SKCM-US 6 105198317 105198317 single base substitution G A intron_variant SKCM-US 6 105198317 105198317 single base substitution G A stop_gained R533* 1597C>T SKCM-US 6 105198317 105198317 single base substitution G A stop_gained R748* 2242C>T SKCM-US 6 105219820 105219820 single base substitution G A 3_prime_UTR_variant SKCM-US 6 105219820 105219820 single base substitution G A exon_variant SKCM-US 6 105219820 105219820 single base substitution G A intron_variant SKCM-US 6 105219820 105219820 single base substitution G A missense_variant S147F 440C>T SKCM-US 6 105219820 105219820 single base substitution G A missense_variant S665F 1994C>T SKCM-US 6 105219820 105219820 single base substitution G A missense_variant S99F 296C>T SKCM-US 6 105232044 105232044 single base substitution G A 3_prime_UTR_variant SKCM-US 6 105232044 105232044 single base substitution G A exon_variant SKCM-US 6 105232044 105232044 single base substitution G A missense_variant P495S 1483C>T SKCM-US 6 105232044 105232044 single base substitution G A upstream_gene_variant SKCM-US 6 105233061 105233061 single base substitution G A 3_prime_UTR_variant SKCM-US 6 105233061 105233061 single base substitution G A exon_variant SKCM-US 6 105233061 105233061 single base substitution G A missense_variant A403V 1208C>T SKCM-US 6 105233061 105233061 single base substitution G A upstream_gene_variant SKCM-US 6 105243490 105243490 single base substitution G A 3_prime_UTR_variant SKCM-US 6 105243490 105243490 single base substitution G A downstream_gene_variant SKCM-US 6 105243490 105243490 single base substitution G A missense_variant A296V 887C>T SKCM-US 6 105244589 105244589 single base substitution G A 3_prime_UTR_variant SKCM-US 6 105244589 105244589 single base substitution G A downstream_gene_variant SKCM-US 6 105244589 105244589 single base substitution G A missense_variant P253S 757C>T SKCM-US 6 105280966 105280966 single base substitution G A exon_variant SKCM-US 6 105280966 105280966 single base substitution G A intron_variant SKCM-US 6 105280966 105280966 single base substitution G A missense_variant A128V 383C>T SKCM-US 6 105280966 105280966 single base substitution G A missense_variant A162V 485C>T STAD-US 6 105192433 105192433 deletion of <=200bp T - 3_prime_UTR_variant STAD-US 6 105192433 105192433 deletion of <=200bp T - exon_variant STAD-US 6 105192433 105192433 deletion of <=200bp T - frameshift_variant N189 STAD-US 6 105192433 105192433 deletion of <=200bp T - frameshift_variant N237 STAD-US 6 105192433 105192433 deletion of <=200bp T - frameshift_variant N584 STAD-US 6 105192433 105192433 deletion of <=200bp T - frameshift_variant N799 STAD-US 6 105198303 105198303 single base substitution G T 3_prime_UTR_variant STAD-US 6 105198303 105198303 single base substitution G T exon_variant STAD-US 6 105198303 105198303 single base substitution G T intron_variant STAD-US 6 105198303 105198303 single base substitution G T synonymous_variant A537A 1611C>A STAD-US 6 105198303 105198303 single base substitution G T synonymous_variant A752A 2256C>A STAD-US 6 105224916 105224916 single base substitution G A 3_prime_UTR_variant STAD-US 6 105224916 105224916 single base substitution G A exon_variant STAD-US 6 105224916 105224916 single base substitution G A intron_variant STAD-US 6 105224916 105224916 single base substitution G A missense_variant A17V 50C>T STAD-US 6 105224916 105224916 single base substitution G A missense_variant A583V 1748C>T STAD-US 6 105224916 105224916 single base substitution G A missense_variant A65V 194C>T STAD-US 6 105233031 105233031 single base substitution G T 3_prime_UTR_variant STAD-US 6 105233031 105233031 single base substitution G T exon_variant STAD-US 6 105233031 105233031 single base substitution G T missense_variant P413H 1238C>A STAD-US 6 105233031 105233031 single base substitution G T upstream_gene_variant STAD-US 6 105239404 105239404 single base substitution T G 3_prime_UTR_variant STAD-US 6 105239404 105239404 single base substitution T G missense_variant K350T 1049A>C STAD-US 6 105239404 105239404 single base substitution T G upstream_gene_variant STAD-US 6 105239495 105239495 single base substitution G T 3_prime_UTR_variant STAD-US 6 105239495 105239495 single base substitution G T missense_variant L320I 958C>A STAD-US 6 105239495 105239495 single base substitution G T upstream_gene_variant STAD-US 6 105244857 105244857 single base substitution C T 3_prime_UTR_variant STAD-US 6 105244857 105244857 single base substitution C T missense_variant A177T 529G>A STAD-US 6 105244857 105244857 single base substitution C T missense_variant A221T 661G>A THCA-US 6 105198273 105198273 single base substitution C A 3_prime_UTR_variant THCA-US 6 105198273 105198273 single base substitution C A exon_variant THCA-US 6 105198273 105198273 single base substitution C A intron_variant THCA-US 6 105198273 105198273 single base substitution C A missense_variant Q547H 1641G>T THCA-US 6 105198273 105198273 single base substitution C A missense_variant Q762H 2286G>T UCEC-US 6 105177600 105177600 single base substitution T C 3_prime_UTR_variant UCEC-US 6 105177600 105177600 single base substitution T C exon_variant UCEC-US 6 105177600 105177600 single base substitution T C synonymous_variant E279E 837A>G UCEC-US 6 105177600 105177600 single base substitution T C synonymous_variant E308E 924A>G UCEC-US 6 105177600 105177600 single base substitution T C synonymous_variant E674E 2022A>G UCEC-US 6 105177600 105177600 single base substitution T C synonymous_variant E889E 2667A>G UCEC-US 6 105178225 105178225 single base substitution G A 3_prime_UTR_variant UCEC-US 6 105178225 105178225 single base substitution G A exon_variant UCEC-US 6 105178225 105178225 single base substitution G A synonymous_variant I250I 750C>T UCEC-US 6 105178225 105178225 single base substitution G A synonymous_variant I279I 837C>T UCEC-US 6 105178225 105178225 single base substitution G A synonymous_variant I645I 1935C>T UCEC-US 6 105178225 105178225 single base substitution G A synonymous_variant I860I 2580C>T UCEC-US 6 105224687 105224687 single base substitution C T 3_prime_UTR_variant UCEC-US 6 105224687 105224687 single base substitution C T exon_variant UCEC-US 6 105224687 105224687 single base substitution C T intron_variant UCEC-US 6 105224687 105224687 single base substitution C T missense_variant R32H 95G>A UCEC-US 6 105224687 105224687 single base substitution C T missense_variant R598H 1793G>A UCEC-US 6 105224687 105224687 single base substitution C T missense_variant R80H 239G>A UCEC-US 6 105225079 105225079 single base substitution A G intron_variant UCEC-US 6 105225079 105225079 single base substitution A G splice_donor_variant UCEC-US 6 105225079 105225079 single base substitution A G upstream_gene_variant UCEC-US 6 105232049 105232049 single base substitution C A splice_acceptor_variant UCEC-US 6 105232049 105232049 single base substitution C A upstream_gene_variant UCEC-US 6 105232346 105232346 single base substitution C T 3_prime_UTR_variant UCEC-US 6 105232346 105232346 single base substitution C T exon_variant UCEC-US 6 105232346 105232346 single base substitution C T missense_variant R475H 1424G>A UCEC-US 6 105232346 105232346 single base substitution C T upstream_gene_variant UCEC-US 6 105232942 105232942 single base substitution C A 3_prime_UTR_variant UCEC-US 6 105232942 105232942 single base substitution C A exon_variant UCEC-US 6 105232942 105232942 single base substitution C A missense_variant D443Y 1327G>T UCEC-US 6 105232942 105232942 single base substitution C A upstream_gene_variant UCEC-US 6 105233198 105233198 single base substitution A G exon_variant UCEC-US 6 105233198 105233198 single base substitution A G splice_region_variant UCEC-US 6 105233198 105233198 single base substitution A G upstream_gene_variant UCEC-US 6 105297081 105297081 single base substitution C A 3_prime_UTR_variant UCEC-US 6 105297081 105297081 single base substitution C A exon_variant UCEC-US 6 105297081 105297081 single base substitution C A stop_gained G54* 160G>T UCEC-US 6 105297081 105297081 single base substitution C A stop_gained G88* 262G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HCT8 COSM3154070 c.461T>A p.V154D Substitution - Missense 6:104833115-104833115 - HCC97T COSM1620717 c.2336A>T p.Y779F Substitution - Missense 6:104750348-104750348 - TCGA-FW-A3R5-06 COSM3920551 c.1994C>T p.S665F Substitution - Missense 6:104771945-104771945 - TCGA-EE-A29Q-06 COSM3619133 c.887C>T p.A296V Substitution - Missense 6:104795615-104795615 - ESCC-070T COSM3941435 c.2306C>T p.P769L Substitution - Missense 6:104750378-104750378 - TCGA-D8-A27G-01 COSM3828702 c.330G>T p.Q110H Substitution - Missense 6:104843295-104843295 - cSCCP1 COSM134142 c.523G>A p.G175S Substitution - Missense 6:104833053-104833053 - TCGA-D3-A51G-06 COSM3619134 c.757C>T p.P253S Substitution - Missense 6:104796714-104796714 - XHDG27 COSM4769170 c.725G>T p.G242V Substitution - Missense 6:104796746-104796746 - SJRHB027 COSM3738118 c.1346C>G p.A449G Substitution - Missense 6:104785048-104785048 - DLD1 COSM3154070 c.461T>A p.V154D Substitution - Missense 6:104833115-104833115 - TCGA-AX-A0J0-01 COSM1071702 c.262G>T p.G88* Substitution - Nonsense 6:104849206-104849206 - TCGA-AM-5820-01 COSM1178508 c.2292T>C p.F764F Substitution - coding silent 6:104750392-104750392 - TCGA-BR-4184-01 COSM3857214 c.661G>A p.A221T Substitution - Missense 6:104796982-104796982 - T368 COSM4689440 c.1832C>G p.P611R Substitution - Missense 6:104776773-104776773 - T1 COSM5617629 c.1102G>A p.D368N Substitution - Missense 6:104785292-104785292 - TCGA-AA-A03F-01 COSM301116 c.1057A>G p.R353G Substitution - Missense 6:104791521-104791521 - I2L-P19Tb-Tumor-Biopsy COSM5357376 c.1192C>A p.Q398K Substitution - Missense 6:104785202-104785202 - YUPAER COSM5404091 c.1216C>T p.P406S Substitution - Missense 6:104785178-104785178 - sysucc-311T COSM5466619 c.2068A>G p.N690D Substitution - Missense 6:104771336-104771336 - DLBCL785 COSM1580983 c.1951G>A p.A651T Substitution - Missense 6:104771988-104771988 - LUAD-RT-S01831 COSM384490 c.152C>G p.S51* Substitution - Nonsense 6:104850976-104850976 - TCGA-60-2725-01 COSM739824 c.2717A>G p.Y906C Substitution - Missense 6:104729675-104729675 - TCGA-AM-5820-01 COSM327992 c.2443-5_2443-3delGTT p.? Unknown 6:104744233-104744235 - T1 COSM5617630 c.1105G>A p.E369K Substitution - Missense 6:104785289-104785289 - LB647-SCLC COSM26914 c.1A>G p.M1V Substitution - Missense 6:104859642-104859642 - 10-P1058 COSM4586110 c.212T>C p.I71T Substitution - Missense 6:104850916-104850916 - T3080 COSM4689442 c.1212C>T p.S404S Substitution - coding silent 6:104785182-104785182 - RK002_C COSM1634404 c.518A>T p.Q173L Substitution - Missense 6:104833058-104833058 - TCGA-CM-6674-01 COSM1439458 c.2282delT p.L761fs*33 Deletion - Frameshift 6:104750402-104750402 - I2L-P19Tb-Tumor-Organoid COSM5357376 c.1192C>A p.Q398K Substitution - Missense 6:104785202-104785202 - TCGA-BR-8680-01 COSM3857210 c.1748C>T p.A583V Substitution - Missense 6:104777041-104777041 - TARGET-30-PARNTS COSM1285312 c.792G>A p.Q264Q Substitution - coding silent 6:104796679-104796679 - 2521262 COSM1697716 c.230C>T p.S77L Substitution - Missense 6:104849238-104849238 - HN_62506 COSM123529 c.2221G>T p.V741F Substitution - Missense 6:104750463-104750463 - TCGA-B8-4620-01 COSM483221 c.177T>C p.Y59Y Substitution - coding silent 6:104850951-104850951 - SC_9083 COSM5549870 c.1315G>T p.A439S Substitution - Missense 6:104785079-104785079 - SS6003115 COSM3982085 c.1165A>G p.T389A Substitution - Missense 6:104785229-104785229 - LUAD-S01467 COSM399520 c.2397T>A p.N799K Substitution - Missense 6:104744557-104744557 - B66-Tumor COSM1754397 c.2547C>T p.I849I Substitution - coding silent 6:104730383-104730383 - TCGA-D3-A2J8-06 COSM3619131 c.1483C>T p.P495S Substitution - Missense 6:104784169-104784169 - TCGA-AP-A0LM-01 COSM1071683 c.2667A>G p.E889E Substitution - coding silent 6:104729725-104729725 - CSCC-11-T COSM4541069 c.293G>A p.G98D Substitution - Missense 6:104849175-104849175 - HCC59T COSM3662061 c.2444G>T p.W815L Substitution - Missense 6:104744229-104744229 - T613 COSM4689438 c.2513G>A p.S838N Substitution - Missense 6:104744160-104744160 - HCC59 COSM3662061 c.2444G>T p.W815L Substitution - Missense 6:104744229-104744229 - TCGA-66-2771-01 COSM739819 c.1684A>C p.I562L Substitution - Missense 6:104777105-104777105 - 442 COSM4434687 c.1915A>T p.N639Y Substitution - Missense 6:104772024-104772024 - TCGA-BH-A18I-01 COSM450253 c.2271C>T p.I757I Substitution - coding silent 6:104750413-104750413 - T3503 COSM3154040 c.1953G>A p.A651A Substitution - coding silent 6:104771986-104771986 - 3844_T COSM3947855 c.1165A>T p.T389S Substitution - Missense 6:104785229-104785229 - I2L-P7-Tumor-Organoid COSM5357077 c.535-10delT p.? Unknown 6:104811403-104811403 - PCSI_0127_Pa_P COSM3381350 c.2266C>T p.Q756* Substitution - Nonsense 6:104750418-104750418 - TCGA-BS-A0UF-01 COSM1071693 c.1424G>A p.R475H Substitution - Missense 6:104784471-104784471 - SWE-54A COSM1178508 c.2292T>C p.F764F Substitution - coding silent 6:104750392-104750392 - TCGA-AA-A010-01 COSM281614 c.1924C>T p.R642W Substitution - Missense 6:104772015-104772015 - DLBCL-PatientF COSM221331 c.823C>A p.Q275K Substitution - Missense 6:104795679-104795679 - TCGA-D8-A1X9-01 COSM1487084 c.1777-1G>T p.? Unknown 6:104776829-104776829 - TCGA-04-1331-01 COSM71017 c.340A>G p.M114V Substitution - Missense 6:104843285-104843285 - TCGA-AZ-4315-01 COSM1439460 c.2213C>T p.A738V Substitution - Missense 6:104750471-104750471 - BRC39 COSM5026606 c.445G>A p.D149N Substitution - Missense 6:104833131-104833131 - Pat_59_A COSM5869047 c.505C>T p.H169Y Substitution - Missense 6:104833071-104833071 - TCGA-AA-A010-01 COSM281615 c.759G>A p.P253P Substitution - coding silent 6:104796712-104796712 - 2492721 COSM5720731 c.2288G>A p.G763D Substitution - Missense 6:104750396-104750396 - T3202 COSM4689444 c.427C>T p.R143W Substitution - Missense 6:104833149-104833149 - TCGA-BR-8078-01 COSM3857211 c.1238C>A p.P413H Substitution - Missense 6:104785156-104785156 - PT15_1 COSM5897575 c.1033G>A p.G345S Substitution - Missense 6:104791545-104791545 - TCGA-BS-A0TC-01 COSM1071695 c.1327G>T p.D443Y Substitution - Missense 6:104785067-104785067 - TCGA-AZ-6601-01 COSM1439462 c.1351C>T p.R451W Substitution - Missense 6:104785043-104785043 - TCGA-24-1557-01 COSM77829 c.2618C>T p.S873L Substitution - Missense 6:104730312-104730312 - TCGA-BR-8680-01 COSM3857212 c.1049A>C p.K350T Substitution - Missense 6:104791529-104791529 - TCGA-21-1076-01 COSM739820 c.1865G>T p.G622V Substitution - Missense 6:104772074-104772074 - S02287 COSM5685743 c.842C>G p.S281C Substitution - Missense 6:104795660-104795660 - TCGA-D5-6540-01 COSM1439461 c.1673A>G p.H558R Substitution - Missense 6:104777211-104777211 - pfg025T COSM327992 c.2443-5_2443-3delGTT p.? Unknown 6:104744233-104744235 - 90827 COSM330491 c.1836T>G p.D612E Substitution - Missense 6:104776769-104776769 - TCGA-09-1665-01 COSM77830 c.754C>A p.H252N Substitution - Missense 6:104796717-104796717 - PD4951a COSM5768494 c.1567-7G>C p.? Unknown 6:104777324-104777324 - TCGA-FS-A4F0-06 COSM3619129 c.2309C>T p.P770L Substitution - Missense 6:104750375-104750375 - 1115244 COSM5559850 c.1914G>C p.L638F Substitution - Missense 6:104772025-104772025 - TCGA-CC-A3MA-01 COSM4942801 c.796G>A p.E266K Substitution - Missense 6:104796675-104796675 - TCGA-HU-8602-01 COSM3857213 c.958C>A p.L320I Substitution - Missense 6:104791620-104791620 - DLBCL1052 COSM1580985 c.214G>A p.A72T Substitution - Missense 6:104850914-104850914 - TCGA-AZ-4615-01 COSM3697428 c.2021C>A p.P674H Substitution - Missense 6:104771383-104771383 - TCGA-A7-A56D-01 COSM3828699 c.994C>T p.R332* Substitution - Nonsense 6:104791584-104791584 - BD25T COSM5509011 c.2561G>T p.G854V Substitution - Missense 6:104730369-104730369 - TCGA-BG-A0LX-01 COSM1071697 c.1075-4T>C p.? Unknown 6:104785323-104785323 - COLO320-DM COSM3154054 c.1262C>G p.T421S Substitution - Missense 6:104785132-104785132 - HN_62624 COSM123530 c.1054C>T p.P352S Substitution - Missense 6:104791524-104791524 - TCGA-FW-A3R5-06 COSM3920550 c.2242C>T p.R748* Substitution - Nonsense 6:104750442-104750442 - HCC77T COSM1620715 c.2581G>A p.A861T Substitution - Missense 6:104730349-104730349 - ESCC_73 COSM5634605 c.910C>G p.H304D Substitution - Missense 6:104795592-104795592 - TCGA-AN-A0XV-01 COSM450254 c.2069A>T p.N690I Substitution - Missense 6:104771335-104771335 - 2492720 COSM5720731 c.2288G>A p.G763D Substitution - Missense 6:104750396-104750396 - TCGA-ES-A2HS-01 COSM4910317 c.551T>C p.L184P Substitution - Missense 6:104811377-104811377 - TCGA-A5-A0G9-01 COSM1071685 c.2580C>T p.I860I Substitution - coding silent 6:104730350-104730350 - BN50 COSM1620716 c.2344-4C>G p.? Unknown 6:104744614-104744614 - 2492723 COSM5720731 c.2288G>A p.G763D Substitution - Missense 6:104750396-104750396 - TCGA-F5-6814-01 COSM3429816 c.2507C>T p.T836M Substitution - Missense 6:104744166-104744166 - 8061109 COSM3393739 c.428G>A p.R143Q Substitution - Missense 6:104833148-104833148 - TCGA-EM-A3AN-01 COSM3373996 c.2286G>T p.Q762H Substitution - Missense 6:104750398-104750398 - TCGA-H4-A2HO-01 COSM1311428 c.1589G>A p.W530* Substitution - Nonsense 6:104777295-104777295 - PT38 COSM5922522 c.618-8C>T p.? Unknown 6:104797033-104797033 - pfg103T COSM3154041 c.1925G>A p.R642Q Substitution - Missense 6:104772014-104772014 - T2269 COSM1209266 c.995G>A p.R332Q Substitution - Missense 6:104791583-104791583 - CSCC-45-T COSM4522199 c.1150G>A p.D384N Substitution - Missense 6:104785244-104785244 - PT37 COSM5918972 c.1190G>A p.G397D Substitution - Missense 6:104785204-104785204 - TCGA-66-2788-01 COSM739817 c.576G>T p.R192S Substitution - Missense 6:104811352-104811352 - CSCC-27-T COSM4531662 c.1812G>T p.L604L Substitution - coding silent 6:104776793-104776793 - S00943 COSM311699 c.1221A>T p.P407P Substitution - coding silent 6:104785173-104785173 - TCGA-FS-A1ZS-06 COSM3619132 c.1208C>T p.A403V Substitution - Missense 6:104785186-104785186 - TCGA-CG-5728-01 COSM3857209 c.2256C>A p.A752A Substitution - coding silent 6:104750428-104750428 - TCGA-C8-A130-01 COSM450255 c.804C>G p.L268L Substitution - coding silent 6:104796667-104796667 - LIM1215 COSM1439460 c.2213C>T p.A738V Substitution - Missense 6:104750471-104750471 - RK069_C01 COSM1634403 c.1868C>G p.T623R Substitution - Missense 6:104772071-104772071 - PT34 COSM5910516 c.360T>G p.Y120* Substitution - Nonsense 6:104843265-104843265 - TCGA-AA-A00N-01 COSM275415 c.1569T>G p.P523P Substitution - coding silent 6:104777315-104777315 - TCGA-AC-A23H-01 COSM3828701 c.870G>C p.K290N Substitution - Missense 6:104795632-104795632 - HCT15 COSM3154070 c.461T>A p.V154D Substitution - Missense 6:104833115-104833115 - TCGA-43-3920-01 COSM739816 c.430A>G p.T144A Substitution - Missense 6:104833146-104833146 - CLL090 COSM1292178 c.2224C>T p.Q742* Substitution - Nonsense 6:104750460-104750460 - TCGA-AA-3821-01 COSM294438 c.787A>G p.T263A Substitution - Missense 6:104796684-104796684 - Capan-1 COSM327992 c.2443-5_2443-3delGTT p.? Unknown 6:104744233-104744235 - TCGA-22-5480-01 COSM739818 c.1128A>T p.T376T Substitution - coding silent 6:104785266-104785266 - WSU-HN30 COSM4600725 c.1058G>A p.R353K Substitution - Missense 6:104791520-104791520 - 587376 COSM1209266 c.995G>A p.R332Q Substitution - Missense 6:104791583-104791583 - TCGA-A3-3316-01 COSM1496149 c.188G>A p.R63H Substitution - Missense 6:104850940-104850940 - CSCC-47-T COSM4529235 c.1597G>A p.E533K Substitution - Missense 6:104777287-104777287 - T37 COSM5344986 c.2443-8G>C p.? Unknown 6:104744238-104744238 - HCC60T COSM1620716 c.2344-4C>G p.? Unknown 6:104744614-104744614 - TCGA-B9-A44B-01 COSM3994537 c.164T>A p.F55Y Substitution - Missense 6:104850964-104850964 - TCGA-EE-A29E-06 COSM3619128 c.2493C>T p.L831L Substitution - coding silent 6:104744180-104744180 - HCC77 COSM1620715 c.2581G>A p.A861T Substitution - Missense 6:104730349-104730349 - TCGA-D8-A1XQ-01 COSM3828700 c.946C>G p.Q316E Substitution - Missense 6:104791632-104791632 - 522_T COSM3947854 c.1888A>G p.N630D Substitution - Missense 6:104772051-104772051 - 207T COSM1726946 c.1401G>T p.M467I Substitution - Missense 6:104784993-104784993 - HT115 COSM1209266 c.995G>A p.R332Q Substitution - Missense 6:104791583-104791583 - TCGA-EE-A2GT-06 COSM3619127 c.2626T>C p.C876R Substitution - Missense 6:104730304-104730304 - CHC205T COSM4407084 c.77-4T>C p.? Unknown 6:104852375-104852375 - PACA70 COSM1158300 c.1075C>T p.P359S Substitution - Missense 6:104785319-104785319 - sysucc-1397T COSM5474852 c.363C>T p.S121S Substitution - coding silent 6:104843262-104843262 - ICC006T COSM3619131 c.1483C>T p.P495S Substitution - Missense 6:104784169-104784169 - T2197 COSM4689443 c.858C>T p.S286S Substitution - coding silent 6:104795644-104795644 - HSJD_DIPG007 COSM4746126 c.988G>A p.V330I Substitution - Missense 6:104791590-104791590 - 9227_T COSM5042179 c.1627G>A p.D543N Substitution - Missense 6:104777257-104777257 - TCGA-D1-A17Q-01 COSM1071691 c.1479-1G>T p.? Unknown 6:104784174-104784174 - CHC433T COSM4409397 c.816+4T>A p.? Unknown 6:104796651-104796651 - RK002_C01 COSM1634404 c.518A>T p.Q173L Substitution - Missense 6:104833058-104833058 - ESCC-178T COSM483216 c.2344-1G>T p.? Unknown 6:104744611-104744611 - PT37 COSM3619131 c.1483C>T p.P495S Substitution - Missense 6:104784169-104784169 - CLL109 COSM1292177 c.2627+2delT p.? Unknown 6:104730301-104730301 - HCC149T COSM3662060 c.2632A>G p.N878D Substitution - Missense 6:104729760-104729760 - TCGA-D1-A15X-01 COSM1071689 c.1678+2T>C p.? Unknown 6:104777204-104777204 - B89-12-Tumor COSM1754398 c.328C>T p.Q110* Substitution - Nonsense 6:104843297-104843297 - HCC061T COSM5805573 c.1244G>T p.S415I Substitution - Missense 6:104785150-104785150 - ESCC_45 COSM5630407 c.802C>G p.L268V Substitution - Missense 6:104796669-104796669 - Ly1 COSM1580984 c.1711T>A p.S571T Substitution - Missense 6:104777078-104777078 - LC_S19 COSM1190783 c.790delC p.Q264fs*26 Deletion - Frameshift 6:104796681-104796681 - TCGA-AZ-5403-01 COSM1439460 c.2213C>T p.A738V Substitution - Missense 6:104750471-104750471 - HCC60 COSM1620716 c.2344-4C>G p.? Unknown 6:104744614-104744614 - BN50T COSM1620716 c.2344-4C>G p.? Unknown 6:104744614-104744614 - TCGA-EK-A2RN-01 COSM4823035 c.1369C>T p.Q457* Substitution - Nonsense 6:104785025-104785025 - HT115 COSM281614 c.1924C>T p.R642W Substitution - Missense 6:104772015-104772015 - LUAD-CHTN-MAD06-00668 COSM360216 c.385A>C p.N129H Substitution - Missense 6:104843240-104843240 - LUAD-YINHD COSM351290 c.2673C>G p.L891L Substitution - coding silent 6:104729719-104729719 - TCGA-CZ-5462-01 COSM483217 c.1129G>T p.E377* Substitution - Nonsense 6:104785265-104785265 - CSCC-47-T COSM4537049 c.2377G>T p.V793L Substitution - Missense 6:104744577-104744577 - Gp5D COSM3154039 c.2041G>A p.A681T Substitution - Missense 6:104771363-104771363 - 8044838 COSM1158300 c.1075C>T p.P359S Substitution - Missense 6:104785319-104785319 - LUAD-RT-S01709 COSM379992 c.2035G>A p.D679N Substitution - Missense 6:104771369-104771369 - TCGA-AA-3966-01 COSM272761 c.1478G>T p.R493I Substitution - Missense 6:104784417-104784417 - ESO-122 COSM1253942 c.1016G>T p.S339I Substitution - Missense 6:104791562-104791562 - A9 COSM5351239 c.479A>T p.E160V Substitution - Missense 6:104833097-104833097 - LUAD-NYU184 COSM370912 c.1641G>T p.R547S Substitution - Missense 6:104777243-104777243 - 587376 COSM1209265 c.1870A>C p.T624P Substitution - Missense 6:104772069-104772069 - Gp2D COSM3154039 c.2041G>A p.A681T Substitution - Missense 6:104771363-104771363 - 88177 COSM95937 c.1419A>C p.S473S Substitution - coding silent 6:104784476-104784476 - HCC149 COSM3662060 c.2632A>G p.N878D Substitution - Missense 6:104729760-104729760 - TCGA-EE-A2GR-06 COSM3619130 c.2244A>G p.R748R Substitution - coding silent 6:104750440-104750440 - HCC97 COSM1620717 c.2336A>T p.Y779F Substitution - Missense 6:104750348-104750348 - ESCC_BICR_047T COSM5430433 c.1382T>C p.M461T Substitution - Missense 6:104785012-104785012 - TCGA-BS-A0UV-01 COSM1071687 c.1793G>A p.R598H Substitution - Missense 6:104776812-104776812 - 169 COSM3722004 c.2164C>T p.P722S Substitution - Missense 6:104771240-104771240 - CHC805T COSM5348448 c.2537_2538insT p.A847fs*2 Insertion - Frameshift 6:104730392-104730393 - TCGA-G2-A2EF-01 COSM1311427 c.2271C>G p.I757M Substitution - Missense 6:104750413-104750413 - TCGA-13-1498-01 COSM74859 c.2221G>C p.V741L Substitution - Missense 6:104750463-104750463 - T613 COSM4689441 c.1582T>C p.C528R Substitution - Missense 6:104777302-104777302 - TCGA-33-4538-01 COSM739821 c.1963A>T p.R655W Substitution - Missense 6:104771976-104771976 - C0021T COSM4155935 c.2283A>C p.L761F Substitution - Missense 6:104750401-104750401 - TCGA-23-1027-01 COSM71016 c.485C>T p.A162V Substitution - Missense 6:104833091-104833091 - TCGA-DY-A1DG-01 COSM1568144 c.236A>T p.E79V Substitution - Missense 6:104849232-104849232 - TCGA-DU-5852-01 COSM3975696 c.1406C>T p.P469L Substitution - Missense 6:104784988-104784988 - B66 COSM1754397 c.2547C>T p.I849I Substitution - coding silent 6:104730383-104730383 - ESO-175 COSM1253943 c.1531T>G p.L511V Substitution - Missense 6:104784121-104784121 - B89-12 COSM1754398 c.328C>T p.Q110* Substitution - Nonsense 6:104843297-104843297 - C32 COSM4619273 c.1031T>C p.M344T Substitution - Missense 6:104791547-104791547 - YURTHE COSM1697716 c.230C>T p.S77L Substitution - Missense 6:104849238-104849238 - ESCC_128 COSM5641672 c.99A>G p.T33T Substitution - coding silent 6:104852349-104852349 - TCGA-D3-A3MV-06 COSM71016 c.485C>T p.A162V Substitution - Missense 6:104833091-104833091 - ESCC_BICR_005T COSM5439179 c.2640C>T p.L880L Substitution - coding silent 6:104729752-104729752 - T578 COSM4689439 c.2448C>A p.F816L Substitution - Missense 6:104744225-104744225 - 2492722 COSM5720731 c.2288G>A p.G763D Substitution - Missense 6:104750396-104750396 - SWE-45 COSM1180071 c.426delG p.R143fs*42 Deletion - Frameshift 6:104833150-104833150 - 783_T COSM3947856 c.540G>A p.V180V Substitution - coding silent 6:104811388-104811388 - ESCC_161 COSM5647705 c.2072T>G p.L691W Substitution - Missense 6:104771332-104771332 - S00035 COSM5656850 c.1580G>C p.R527P Substitution - Missense 6:104777304-104777304 - TCGA-A3-3385-01 COSM483216 c.2344-1G>T p.? Unknown 6:104744611-104744611 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.434340 6q16.3 610876

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AAC - IntronicDeletion . c.2443-5_2443-3delGTT 6 105192108 STAD A C IntronicSNV . c.1075-401T>G 6 105233595 DLBCL A C Missense p.L511V c.1531T>G 6 105231996 ESCA A G Missense p.C876R c.2626T>C 6 105178179 CM A G Missense p.I773T c.2318T>C 6 105198241 MM A G Missense p.M749T c.2246T>C 6 105198313 STAD A G Missense p.Y251H c.751T>C 6 105244595 COREAD A G Synonymous p.Y59Y c.177T>C 6 105298826 RCCC C A IntronicSNV . c.1679-13G>T 6 105224998 NSCLC C A Missense p.D443Y c.1327G>T 6 105232942 UCEC C A Missense p.G348W c.1042G>T 6 105239411 STAD C A Missense p.G433W c.1297G>T 6 105232972 CM C A Missense p.G622V c.1865G>T 6 105219949 LUSC C A Missense p.R192S c.576G>T 6 105259227 LUSC C A Missense p.S339I c.1016G>T 6 105239437 ESCA C A Missense p.V741F c.2221G>T 6 105198338 HNSC C A Nonsense p.E377* c.1129G>T 6 105233140 RCCC C A SpliceAcceptorSNV . c.1777-1G>T 6 105224704 BRCA C A SpliceAcceptorSNV . c.2344-1G>T 6 105192486 RCCC C G 3-UTRSNV . c.2727+64G>C 6 105177476 RCCC C G IntronicSNV . c.1478+104G>C 6 105232188 NSCLC C G Missense p.G728A c.2183G>C 6 105219096 LUAD C G Missense p.V741L c.2221G>C 6 105198338 OV C G SpliceAcceptorSNV . c.1679-1G>C 6 105224986 HNSC C T Missense p.D149N c.445G>A 6 105281006 BRCA C T Missense p.D698N c.2092G>A 6 105219187 LUAD C T Missense p.G422D c.1265G>A 6 105233004 HNSC C T Missense p.R143Q c.428G>A 6 105281023 HNSC C T Nonsense p.W530* c.1589G>A 6 105225170 BLCA C T Synonymous p.Q264Q c.792G>A 6 105244554 NB G A Missense p.A162V c.485C>T 6 105280966 CM G A Missense p.A162V c.485C>T 6 105280966 OV G A Missense p.A296V c.887C>T 6 105243490 CM G A Missense p.A403V c.1208C>T 6 105233061 CM G A Missense p.P352S c.1054C>T 6 105239399 HNSC G A Missense p.P469L c.1406C>T 6 105232863 LGG G A Missense p.P495S c.1483C>T 6 105232044 CM G A Missense p.S873L c.2618C>T 6 105178187 OV G A Nonsense p.Q742* c.2224C>T 6 105198335 CLL G A Nonsense p.Q825* c.2473C>T 6 105192075 LUAD G A Synonymous p.I757I c.2271C>T 6 105198288 BRCA G A Synonymous p.I860I c.2580C>T 6 105178225 UCEC G C Missense p.A439G c.1316C>G 6 105232953 HNSC G C Missense p.I757M c.2271C>G 6 105198288 BLCA G C Missense p.T623R c.1868C>G 6 105219946 HC G C Synonymous p.L268L c.804C>G 6 105244542 BRCA G T Missense p.H252N c.754C>A 6 105244592 OV G T Synonymous p.A752A c.2256C>A 6 105198303 STAD T A Missense p.N690I c.2069A>T 6 105219210 BRCA T A Missense p.Q173L c.518A>T 6 105280933 HC T A Missense p.R655W c.1963A>T 6 105219851 LUSC T A Synonymous p.P407P c.1221A>T 6 105233048 SCLC T A Synonymous p.T376T c.1128A>T 6 105233141 LUSC T C Missense p.M114V c.340A>G 6 105291160 OV T C Missense p.Q287R c.860A>G 6 105243517 HNSC T C Missense p.R353G c.1057A>G 6 105239396 COREAD T C Missense p.T144A c.430A>G 6 105281021 LUSC T C Missense p.Y906C c.2717A>G 6 105177550 LUSC T C Synonymous p.R748R c.2244A>G 6 105198315 CM T G Missense p.I562L c.1684A>C 6 105224980 LUSC T G Missense p.N735H c.2203A>C 6 105219076 COREAD