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 1 10190785 10190785 + Missense_Mutation SNP G G A TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr1:10190785G>A c.1438G>A c.(1438-1440)Gaa>Aaa p.E480K ACC 1 10197164 10197164 + Missense_Mutation SNP C C T TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr1:10197164C>T c.1877C>T c.(1876-1878)aCg>aTg p.T626M BLCA 1 10132131 10132131 + Nonsense_Mutation SNP C C T TCGA-UY-A9PF-01A-11D-A38G-08 TCGA-UY-A9PF-10A-01D-A38J-08 g.chr1:10132131C>T c.70C>T c.(70-72)Cag>Tag p.Q24* BLCA 1 10161225 10161225 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr1:10161225G>A c.407G>A c.(406-408)cGa>cAa p.R136Q BLCA 1 10166258 10166258 + Silent SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 g.chr1:10166258C>G c.813C>G c.(811-813)ctC>ctG p.L271L BLCA 1 10166291 10166291 + Silent SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr1:10166291C>T c.846C>T c.(844-846)ttC>ttT p.F282F BLCA 1 10166513 10166513 + Silent SNP C C T TCGA-DK-AA6R-01A-11D-A42E-08 TCGA-DK-AA6R-10A-01D-A42H-08 g.chr1:10166513C>T c.1068C>T c.(1066-1068)ctC>ctT p.L356L BLCA 1 10166548 10166548 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 g.chr1:10166548C>T c.1103C>T c.(1102-1104)tCc>tTc p.S368F BLCA 1 10166611 10166611 + Missense_Mutation SNP G G A TCGA-XF-AAN7-01A-11D-A42E-08 TCGA-XF-AAN7-10A-01D-A42H-08 g.chr1:10166611G>A c.1166G>A c.(1165-1167)aGa>aAa p.R389K BLCA 1 10179641 10179641 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 g.chr1:10179641T>C c.1022T>C c.(1021-1023)tTa>tCa p.L341S BLCA 1 10186932 10186932 + Silent SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 g.chr1:10186932C>G c.1248C>G c.(1246-1248)ctC>ctG p.L416L BLCA 1 10190617 10190617 + Silent SNP G G T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 g.chr1:10190617G>T c.1368G>T c.(1366-1368)ctG>ctT p.L456L BLCA 1 10195078 10195078 + Missense_Mutation SNP T T A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr1:10195078T>A c.1671T>A c.(1669-1671)ttT>ttA p.F557L BLCA 1 10197129 10197129 + Silent SNP C C T TCGA-UY-A78O-01A-12D-A339-08 TCGA-UY-A78O-10A-01D-A339-08 g.chr1:10197129C>T c.1842C>T c.(1840-1842)ggC>ggT p.G614G BLCA 1 10207131 10207131 + Silent SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 g.chr1:10207131G>A c.2187G>A c.(2185-2187)ctG>ctA p.L729L BLCA 1 10207138 10207138 + Missense_Mutation SNP G G A TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr1:10207138G>A c.2194G>A c.(2194-2196)Gca>Aca p.A732T BLCA 1 10207138 10207138 + Missense_Mutation SNP G G A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 g.chr1:10207138G>A c.2194G>A c.(2194-2196)Gca>Aca p.A732T BLCA 1 10211454 10211454 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr1:10211454A>G c.2374A>G c.(2374-2376)Aac>Gac p.N792D BLCA 1 10218426 10218426 + Missense_Mutation SNP C C T TCGA-UY-A78N-01A-12D-A339-08 TCGA-UY-A78N-10A-01D-A339-08 g.chr1:10218426C>T c.2552C>T c.(2551-2553)aCc>aTc p.T851I BLCA 1 10231309 10231309 + Missense_Mutation SNP G G T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr1:10231309G>T c.3060G>T c.(3058-3060)aaG>aaT p.K1020N BLCA 1 10231366 10231366 + Silent SNP G G A TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr1:10231366G>A c.3117G>A c.(3115-3117)gcG>gcA p.A1039A BLCA 1 10239490 10239490 + Silent SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr1:10239490C>G c.3330C>G c.(3328-3330)acC>acG p.T1110T BRCA 1 10132172 10132172 + Silent SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr1:10132172T>C c.111T>C c.(109-111)ccT>ccC p.P37P BRCA 1 10161225 10161225 + Missense_Mutation SNP G G A TCGA-AR-A250-01A-31D-A167-09 TCGA-AR-A250-10A-01D-A167-09 g.chr1:10161225G>A c.407G>A c.(406-408)cGa>cAa p.R136Q BRCA 1 10163031 10163031 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr1:10163031C>G c.461C>G c.(460-462)tCt>tGt p.S154C BRCA 1 10163069 10163069 + Missense_Mutation SNP C C A TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr1:10163069C>A c.499C>A c.(499-501)Cgt>Agt p.R167S BRCA 1 10163139 10163139 + Missense_Mutation SNP A A G TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 g.chr1:10163139A>G c.569A>G c.(568-570)aAc>aGc p.N190S BRCA 1 10166258 10166258 + Silent SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 g.chr1:10166258C>G c.813C>G c.(811-813)ctC>ctG p.L271L BRCA 1 10177641 10177642 + Frame_Shift_Ins INS - - A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 g.chr1:10177641_10177642insA c.934_935insA c.(934-936)gaafs p.E312fs BRCA 1 10177641 10177642 + Frame_Shift_Ins INS - - A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 g.chr1:10177641_10177642insA c.934_935insA c.(934-936)gaafs p.E312fs BRCA 1 10186920 10186920 + Silent SNP T T C TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 g.chr1:10186920T>C c.1236T>C c.(1234-1236)ttT>ttC p.F412F BRCA 1 10190626 10190626 + Silent SNP C C G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 g.chr1:10190626C>G c.1377C>G c.(1375-1377)ctC>ctG p.L459L BRCA 1 10197233 10197233 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr1:10197233G>A c.1946G>A c.(1945-1947)cGc>cAc p.R649H BRCA 1 10205077 10205077 + Missense_Mutation SNP C C T TCGA-E2-A15O-01A-11D-A10Y-09 TCGA-E2-A15O-10A-01D-A110-09 g.chr1:10205077C>T c.2056C>T c.(2056-2058)Cgc>Tgc p.R686C BRCA 1 10221207 10221207 + Missense_Mutation SNP A A G TCGA-AR-A5QN-01A-12D-A28B-09 TCGA-AR-A5QN-10A-01D-A28E-09 g.chr1:10221207A>G c.2674A>G c.(2674-2676)Aag>Gag p.K892E BRCA 1 10228305 10228305 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 g.chr1:10228305G>T c.2923G>T c.(2923-2925)Gtc>Ttc p.V975F BRCA 1 10231364 10231364 + Missense_Mutation SNP G G A TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 g.chr1:10231364G>A c.3115G>A c.(3115-3117)Gcg>Acg p.A1039T CESC 1 10163088 10163088 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr1:10163088G>A c.518G>A c.(517-519)cGg>cAg p.R173Q CESC 1 10195164 10195164 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr1:10195164G>C c.1757G>C c.(1756-1758)aGa>aCa p.R586T CHOL 1 10192481 10192481 + Missense_Mutation SNP G G T TCGA-ZH-A8Y1-01A-11D-A417-09 TCGA-ZH-A8Y1-10A-01D-A41A-09 g.chr1:10192481G>T c.1579G>T c.(1579-1581)Gct>Tct p.A527S CHOL 1 10205034 10205034 + Nonsense_Mutation SNP G G A TCGA-W5-AA2U-01A-11D-A417-09 TCGA-W5-AA2U-10A-01D-A41A-09 g.chr1:10205034G>A c.2013G>A c.(2011-2013)tgG>tgA p.W671* COAD 1 10132092 10132092 + Missense_Mutation SNP C C T TCGA-AA-3956-01A-02W-0995-10 TCGA-AA-3956-10A-01W-0995-10 g.chr1:10132092C>T c.31C>T c.(31-33)Cgg>Tgg p.R11W COAD 1 10163147 10163147 + Nonsense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:10163147G>T c.577G>T c.(577-579)Gaa>Taa p.E193* COAD 1 10163152 10163152 + Splice_Site SNP T T C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr1:10163152T>C c.e5+2 COAD 1 10165689 10165689 + Silent SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:10165689T>C c.696T>C c.(694-696)atT>atC p.I232I COAD 1 10165719 10165720 + Frame_Shift_Del DEL TC TC - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr1:10165719_10165720delTC c.726_727delTC c.(724-729)aatctcfs p.L245fs COAD 1 10165792 10165792 + Missense_Mutation SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:10165792T>C c.799T>C c.(799-801)Tct>Cct p.S267P COAD 1 10166432 10166432 + Silent SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr1:10166432G>A c.987G>A c.(985-987)cgG>cgA p.R329R COAD 1 10166538 10166538 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:10166538G>A c.1093G>A c.(1093-1095)Gcc>Acc p.A365T COAD 1 10166589 10166589 + Missense_Mutation SNP G G A TCGA-CK-6747-01A-11D-1835-10 TCGA-CK-6747-10A-01D-1835-10 g.chr1:10166589G>A c.1144G>A c.(1144-1146)Gcc>Acc p.A382T COAD 1 10177613 10177613 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:10177613C>T c.906C>T c.(904-906)atC>atT p.I302I COAD 1 10190571 10190571 + Missense_Mutation SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr1:10190571G>A c.1322G>A c.(1321-1323)cGg>cAg p.R441Q COAD 1 10190572 10190572 + Silent SNP G G C TCGA-AZ-6605-01A-11D-1835-10 TCGA-AZ-6605-11A-01D-1835-10 g.chr1:10190572G>C c.1323G>C c.(1321-1323)cgG>cgC p.R441R COAD 1 10192468 10192468 + Silent SNP C C T TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr1:10192468C>T c.1566C>T c.(1564-1566)ggC>ggT p.G522G COAD 1 10192507 10192507 + Silent SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr1:10192507C>T c.1605C>T c.(1603-1605)gtC>gtT p.V535V COAD 1 10192508 10192508 + Missense_Mutation SNP G G A TCGA-AA-3522-01A-01W-0831-10 TCGA-AA-3522-10A-01W-0831-10 g.chr1:10192508G>A c.1606G>A c.(1606-1608)Gtc>Atc p.V536I COAD 1 10197263 10197263 + Splice_Site SNP G G T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:10197263G>T c.1976G>T c.(1975-1977)aGa>aTa p.R659I COAD 1 10207124 10207124 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr1:10207124G>A c.2180G>A c.(2179-2181)cGc>cAc p.R727H COAD 1 10209327 10209327 + Frame_Shift_Del DEL T T - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr1:10209327delT c.2290delT c.(2290-2292)tttfs p.F765fs COAD 1 10211546 10211547 + Frame_Shift_Ins INS - - T TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr1:10211546_10211547insT c.2466_2467insT c.(2467-2469)tttfs p.F823fs COAD 1 10211549 10211549 + Missense_Mutation SNP T T G TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr1:10211549T>G c.2469T>G c.(2467-2469)ttT>ttG p.F823L COAD 1 10211619 10211619 + Splice_Site SNP G G A TCGA-CA-6719-01A-11D-1835-10 TCGA-CA-6719-10A-01D-1835-10 g.chr1:10211619G>A c.2539G>A c.(2539-2541)Gat>Aat p.D847N COAD 1 10221278 10221278 + Silent SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:10221278T>C c.2745T>C c.(2743-2745)tcT>tcC p.S915S COAD 1 10221310 10221310 + Missense_Mutation SNP T T C TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr1:10221310T>C c.2777T>C c.(2776-2778)aTg>aCg p.M926T COAD 1 10231210 10231211 + Frame_Shift_Ins INS - - T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr1:10231210_10231211insT c.2961_2962insT c.(2962-2964)ttgfs p.L988fs COAD 1 10231304 10231304 + Missense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr1:10231304C>T c.3055C>T c.(3055-3057)Cca>Tca p.P1019S COAD 1 10239537 10239537 + Missense_Mutation SNP G G A TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr1:10239537G>A c.3377G>A c.(3376-3378)cGc>cAc p.R1126H COADREAD 1 10132092 10132092 + Missense_Mutation SNP C C T TCGA-AA-3956-01A-02W-0995-10 TCGA-AA-3956-10A-01W-0995-10 g.chr1:10132092C>T c.31C>T c.(31-33)Cgg>Tgg p.R11W COADREAD 1 10132264 10132264 + Missense_Mutation SNP G G A TCGA-AG-A036-01A-12W-A096-10 TCGA-AG-A036-11A-11W-A096-10 g.chr1:10132264G>A c.203G>A c.(202-204)gGt>gAt p.G68D COADREAD 1 10161225 10161225 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:10161225G>A c.407G>A c.(406-408)cGa>cAa p.R136Q COADREAD 1 10163147 10163147 + Nonsense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:10163147G>T c.577G>T c.(577-579)Gaa>Taa p.E193* COADREAD 1 10163152 10163152 + Splice_Site SNP T T C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr1:10163152T>C c.e5+2 COADREAD 1 10165689 10165689 + Silent SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:10165689T>C c.696T>C c.(694-696)atT>atC p.I232I COADREAD 1 10165719 10165720 + Frame_Shift_Del DEL TC TC - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr1:10165719_10165720delTC c.726_727delTC c.(724-729)aatctcfs p.L245fs COADREAD 1 10165792 10165792 + Missense_Mutation SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:10165792T>C c.799T>C c.(799-801)Tct>Cct p.S267P COADREAD 1 10166432 10166432 + Silent SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr1:10166432G>A c.987G>A c.(985-987)cgG>cgA p.R329R COADREAD 1 10166538 10166538 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:10166538G>A c.1093G>A c.(1093-1095)Gcc>Acc p.A365T COADREAD 1 10166589 10166589 + Missense_Mutation SNP G G A TCGA-CK-6747-01A-11D-1835-10 TCGA-CK-6747-10A-01D-1835-10 g.chr1:10166589G>A c.1144G>A c.(1144-1146)Gcc>Acc p.A382T COADREAD 1 10177613 10177613 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:10177613C>T c.906C>T c.(904-906)atC>atT p.I302I COADREAD 1 10177622 10177622 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:10177622C>T c.915C>T c.(913-915)ttC>ttT p.F305F COADREAD 1 10190571 10190571 + Missense_Mutation SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr1:10190571G>A c.1322G>A c.(1321-1323)cGg>cAg p.R441Q COADREAD 1 10190572 10190572 + Silent SNP G G C TCGA-AZ-6605-01A-11D-1835-10 TCGA-AZ-6605-11A-01D-1835-10 g.chr1:10190572G>C c.1323G>C c.(1321-1323)cgG>cgC p.R441R COADREAD 1 10192468 10192468 + Silent SNP C C T TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr1:10192468C>T c.1566C>T c.(1564-1566)ggC>ggT p.G522G COADREAD 1 10192507 10192507 + Silent SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr1:10192507C>T c.1605C>T c.(1603-1605)gtC>gtT p.V535V COADREAD 1 10192508 10192508 + Missense_Mutation SNP G G A TCGA-AA-3522-01A-01W-0831-10 TCGA-AA-3522-10A-01W-0831-10 g.chr1:10192508G>A c.1606G>A c.(1606-1608)Gtc>Atc p.V536I COADREAD 1 10197263 10197263 + Splice_Site SNP G G T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:10197263G>T c.1976G>T c.(1975-1977)aGa>aTa p.R659I COADREAD 1 10207124 10207124 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr1:10207124G>A c.2180G>A c.(2179-2181)cGc>cAc p.R727H COADREAD 1 10209327 10209327 + Frame_Shift_Del DEL T T - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr1:10209327delT c.2290delT c.(2290-2292)tttfs p.F765fs COADREAD 1 10211546 10211547 + Frame_Shift_Ins INS - - T TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr1:10211546_10211547insT c.2466_2467insT c.(2467-2469)tttfs p.F823fs COADREAD 1 10211549 10211549 + Missense_Mutation SNP T T G TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr1:10211549T>G c.2469T>G c.(2467-2469)ttT>ttG p.F823L COADREAD 1 10211619 10211619 + Splice_Site SNP G G A TCGA-CA-6719-01A-11D-1835-10 TCGA-CA-6719-10A-01D-1835-10 g.chr1:10211619G>A c.2539G>A c.(2539-2541)Gat>Aat p.D847N COADREAD 1 10221278 10221278 + Silent SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:10221278T>C c.2745T>C c.(2743-2745)tcT>tcC p.S915S COADREAD 1 10221310 10221310 + Missense_Mutation SNP T T C TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr1:10221310T>C c.2777T>C c.(2776-2778)aTg>aCg p.M926T COADREAD 1 10231208 10231208 + Nonsense_Mutation SNP C C T TCGA-DC-6681-01A-11D-1826-10 TCGA-DC-6681-10A-01D-1826-10 g.chr1:10231208C>T c.2959C>T c.(2959-2961)Cga>Tga p.R987* COADREAD 1 10231210 10231211 + Frame_Shift_Ins INS - - T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr1:10231210_10231211insT c.2961_2962insT c.(2962-2964)ttgfs p.L988fs COADREAD 1 10231304 10231304 + Missense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr1:10231304C>T c.3055C>T c.(3055-3057)Cca>Tca p.P1019S COADREAD 1 10239537 10239537 + Missense_Mutation SNP G G A TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr1:10239537G>A c.3377G>A c.(3376-3378)cGc>cAc p.R1126H DLBC 1 10211588 10211588 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr1:10211588G>A c.2508G>A c.(2506-2508)ttG>ttA p.L836L ESCA 1 10132108 10132108 + Missense_Mutation SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 g.chr1:10132108G>C c.47G>C c.(46-48)cGa>cCa p.R16P ESCA 1 10207055 10207055 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 g.chr1:10207055G>A c.2111G>A c.(2110-2112)gGc>gAc p.G704D ESCA 1 10211432 10211432 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 g.chr1:10211432G>T c.2352G>T c.(2350-2352)atG>atT p.M784I ESCA 1 10218487 10218487 + Missense_Mutation SNP T T A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chr1:10218487T>A c.2613T>A c.(2611-2613)ttT>ttA p.F871L GBM 1 10192468 10192468 + Silent SNP C C G TCGA-06-0644-01A-02D-1492-08 TCGA-06-0644-10A-01D-1492-08 g.chr1:10192468C>G c.1566C>G c.(1564-1566)ggC>ggG p.G522G GBM 1 10221285 10221285 + Nonsense_Mutation SNP C C T TCGA-41-3392-01A-01D-1495-08 TCGA-41-3392-10A-01D-1495-08 g.chr1:10221285C>T c.2752C>T c.(2752-2754)Cga>Tga p.R918* GBMLGG 1 10182079 10182079 + Missense_Mutation SNP G G A TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 g.chr1:10182079G>A c.1112G>A c.(1111-1113)gGc>gAc p.G371D GBMLGG 1 10192468 10192468 + Silent SNP C C G TCGA-06-0644-01A-02D-1492-08 TCGA-06-0644-10A-01D-1492-08 g.chr1:10192468C>G c.1566C>G c.(1564-1566)ggC>ggG p.G522G GBMLGG 1 10195195 10195195 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:10195195G>A c.1788G>A c.(1786-1788)acG>acA p.T596T GBMLGG 1 10221285 10221285 + Nonsense_Mutation SNP C C T TCGA-41-3392-01A-01D-1495-08 TCGA-41-3392-10A-01D-1495-08 g.chr1:10221285C>T c.2752C>T c.(2752-2754)Cga>Tga p.R918* HNSC 1 10132157 10132157 + Silent SNP C C A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 g.chr1:10132157C>A c.96C>A c.(94-96)ccC>ccA p.P32P HNSC 1 10132224 10132224 + Missense_Mutation SNP C C G TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 g.chr1:10132224C>G c.163C>G c.(163-165)Ctc>Gtc p.L55V HNSC 1 10166447 10166447 + Silent SNP T T G TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr1:10166447T>G c.1002T>G c.(1000-1002)acT>acG p.T334T HNSC 1 10195049 10195049 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 g.chr1:10195049G>C c.1642G>C c.(1642-1644)Gat>Cat p.D548H HNSC 1 10197129 10197129 + Silent SNP C C T TCGA-UF-A718-01A-22D-A34J-08 TCGA-UF-A718-10A-01D-A34M-08 g.chr1:10197129C>T c.1842C>T c.(1840-1842)ggC>ggT p.G614G HNSC 1 10207077 10207077 + Silent SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 g.chr1:10207077G>A c.2133G>A c.(2131-2133)ctG>ctA p.L711L HNSC 1 10207138 10207138 + Missense_Mutation SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 g.chr1:10207138G>A c.2194G>A c.(2194-2196)Gca>Aca p.A732T HNSC 1 10209286 10209286 + Missense_Mutation SNP C C T TCGA-D6-6825-01A-21D-1912-08 TCGA-D6-6825-10A-01D-1912-08 g.chr1:10209286C>T c.2249C>T c.(2248-2250)gCg>gTg p.A750V HNSC 1 10211518 10211518 + Missense_Mutation SNP A A T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 g.chr1:10211518A>T c.2438A>T c.(2437-2439)aAc>aTc p.N813I HNSC 1 10228273 10228273 + Missense_Mutation SNP C C T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 g.chr1:10228273C>T c.2891C>T c.(2890-2892)aCc>aTc p.T964I HNSC 1 10231324 10231324 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr1:10231324A>G c.3075A>G c.(3073-3075)caA>caG p.Q1025Q HNSC 1 10239993 10239993 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 g.chr1:10239993G>A c.3501G>A c.(3499-3501)gaG>gaA p.E1167E KICH 1 10155570 10155570 + Missense_Mutation SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr1:10155570C>T c.263C>T c.(262-264)tCg>tTg p.S88L KIPAN 1 10155570 10155570 + Missense_Mutation SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr1:10155570C>T c.263C>T c.(262-264)tCg>tTg p.S88L KIPAN 1 10163026 10163026 + Missense_Mutation SNP A A T TCGA-B0-5075-01A-01D-1462-08 TCGA-B0-5075-11A-01D-1462-08 g.chr1:10163026A>T c.456A>T c.(454-456)gaA>gaT p.E152D KIPAN 1 10163061 10163061 + Missense_Mutation SNP A A C TCGA-B0-5812-01A-11D-1669-08 TCGA-B0-5812-11A-01D-1669-08 g.chr1:10163061A>C c.491A>C c.(490-492)aAg>aCg p.K164T KIPAN 1 10166557 10166557 + Missense_Mutation SNP G G A TCGA-BP-5182-01A-01D-1429-08 TCGA-BP-5182-11A-01D-1429-08 g.chr1:10166557G>A c.1112G>A c.(1111-1113)aGg>aAg p.R371K KIPAN 1 10177640 10177640 + Missense_Mutation SNP G G C TCGA-4A-A93W-01A-11D-A36X-10 TCGA-4A-A93W-10A-01D-A370-10 g.chr1:10177640G>C c.933G>C c.(931-933)gaG>gaC p.E311D KIPAN 1 10221342 10221342 + Missense_Mutation SNP C C T TCGA-A3-3387-01A-01D-1534-10 TCGA-A3-3387-11A-01D-1534-10 g.chr1:10221342C>T c.2809C>T c.(2809-2811)Cgg>Tgg p.R937W KIRC 1 10163026 10163026 + Missense_Mutation SNP A A T TCGA-B0-5075-01A-01D-1462-08 TCGA-B0-5075-11A-01D-1462-08 g.chr1:10163026A>T c.456A>T c.(454-456)gaA>gaT p.E152D KIRC 1 10163061 10163061 + Missense_Mutation SNP A A C TCGA-B0-5812-01A-11D-1669-08 TCGA-B0-5812-11A-01D-1669-08 g.chr1:10163061A>C c.491A>C c.(490-492)aAg>aCg p.K164T KIRC 1 10166557 10166557 + Missense_Mutation SNP G G A TCGA-BP-5182-01A-01D-1429-08 TCGA-BP-5182-11A-01D-1429-08 g.chr1:10166557G>A c.1112G>A c.(1111-1113)aGg>aAg p.R371K KIRC 1 10221342 10221342 + Missense_Mutation SNP C C T TCGA-A3-3387-01A-01D-1534-10 TCGA-A3-3387-11A-01D-1534-10 g.chr1:10221342C>T c.2809C>T c.(2809-2811)Cgg>Tgg p.R937W KIRP 1 10177640 10177640 + Missense_Mutation SNP G G C TCGA-4A-A93W-01A-11D-A36X-10 TCGA-4A-A93W-10A-01D-A370-10 g.chr1:10177640G>C c.933G>C c.(931-933)gaG>gaC p.E311D LGG 1 10182079 10182079 + Missense_Mutation SNP G G A TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 g.chr1:10182079G>A c.1112G>A c.(1111-1113)gGc>gAc p.G371D LGG 1 10195195 10195195 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:10195195G>A c.1788G>A c.(1786-1788)acG>acA p.T596T LIHC 1 10166449 10166449 + Missense_Mutation SNP T T C TCGA-FV-A2QR-01A-11D-A20W-10 TCGA-FV-A2QR-11A-11D-A20W-10 g.chr1:10166449T>C c.1004T>C c.(1003-1005)gTc>gCc p.V335A LIHC 1 10179596 10179596 + Missense_Mutation SNP A A G TCGA-DD-A3A1-01A-11D-A20W-10 TCGA-DD-A3A1-11A-11D-A20W-10 g.chr1:10179596A>G c.977A>G c.(976-978)cAg>cGg p.Q326R LIHC 1 10190648 10190648 + Missense_Mutation SNP A A T TCGA-DD-AAE3-01A-11D-A40R-10 TCGA-DD-AAE3-10A-01D-A40U-10 g.chr1:10190648A>T c.1399A>T c.(1399-1401)Agc>Tgc p.S467C LIHC 1 10190866 10190866 + Nonsense_Mutation SNP G G T TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr1:10190866G>T c.1519G>T c.(1519-1521)Gga>Tga p.G507* LIHC 1 10195205 10195205 + Missense_Mutation SNP G G C TCGA-G3-AAV0-01A-11D-A36X-10 TCGA-G3-AAV0-10A-01D-A370-10 g.chr1:10195205G>C c.1798G>C c.(1798-1800)Gca>Cca p.A600P LIHC 1 10197205 10197205 + Missense_Mutation SNP A A G TCGA-BD-A3ER-01A-11D-A20W-10 TCGA-BD-A3ER-11A-11D-A20W-10 g.chr1:10197205A>G c.1918A>G c.(1918-1920)Att>Gtt p.I640V LIHC 1 10205093 10205093 + Missense_Mutation SNP T T A TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr1:10205093T>A c.2072T>A c.(2071-2073)cTt>cAt p.L691H LIHC 1 10211424 10211424 + Missense_Mutation SNP A A G TCGA-RC-A7SH-01A-11D-A382-10 TCGA-RC-A7SH-10A-01D-A385-10 g.chr1:10211424A>G c.2344A>G c.(2344-2346)Att>Gtt p.I782V LIHC 1 10221232 10221232 + Missense_Mutation SNP T T C TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr1:10221232T>C c.2699T>C c.(2698-2700)aTg>aCg p.M900T LUAD 1 10132239 10132239 + Missense_Mutation SNP A A G TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr1:10132239A>G c.178A>G c.(178-180)Atg>Gtg p.M60V LUAD 1 10155609 10155609 + Nonsense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr1:10155609C>G c.302C>G c.(301-303)tCa>tGa p.S101* LUAD 1 10155625 10155625 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 g.chr1:10155625G>A c.318G>A c.(316-318)atG>atA p.M106I LUAD 1 10165755 10165755 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 g.chr1:10165755C>G c.762C>G c.(760-762)agC>agG p.S254R LUAD 1 10165759 10165759 + Missense_Mutation SNP A A G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 g.chr1:10165759A>G c.766A>G c.(766-768)Atg>Gtg p.M256V LUAD 1 10166582 10166582 + Silent SNP A A G TCGA-73-4668-01A-01D-1265-08 TCGA-73-4668-11A-01D-1265-08 g.chr1:10166582A>G c.1137A>G c.(1135-1137)ctA>ctG p.L379L LUAD 1 10179590 10179590 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr1:10179590T>C c.971T>C c.(970-972)gTc>gCc p.V324A LUAD 1 10195123 10195123 + Missense_Mutation SNP C C G TCGA-93-8067-01A-11D-2284-08 TCGA-93-8067-10A-01D-2284-08 g.chr1:10195123C>G c.1716C>G c.(1714-1716)atC>atG p.I572M LUAD 1 10197141 10197141 + Silent SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr1:10197141A>G c.1854A>G c.(1852-1854)ccA>ccG p.P618P LUAD 1 10197176 10197176 + Missense_Mutation SNP T T G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 g.chr1:10197176T>G c.1889T>G c.(1888-1890)tTt>tGt p.F630C LUAD 1 10197236 10197236 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr1:10197236G>C c.1949G>C c.(1948-1950)aGa>aCa p.R650T LUAD 1 10207066 10207066 + Nonsense_Mutation SNP G G T TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr1:10207066G>T c.2122G>T c.(2122-2124)Gag>Tag p.E708* LUAD 1 10207112 10207112 + Missense_Mutation SNP A A T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 g.chr1:10207112A>T c.2168A>T c.(2167-2169)cAg>cTg p.Q723L LUAD 1 10209284 10209284 + Silent SNP A A T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 g.chr1:10209284A>T c.2247A>T c.(2245-2247)gcA>gcT p.A749A LUAD 1 10209326 10209326 + Missense_Mutation SNP A A T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 g.chr1:10209326A>T c.2289A>T c.(2287-2289)ttA>ttT p.L763F LUAD 1 10211558 10211558 + Missense_Mutation SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 g.chr1:10211558G>A c.2478G>A c.(2476-2478)atG>atA p.M826I LUAD 1 10211596 10211596 + Missense_Mutation SNP C C T TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr1:10211596C>T c.2516C>T c.(2515-2517)cCt>cTt p.P839L LUAD 1 10228257 10228257 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 g.chr1:10228257G>T c.2875G>T c.(2875-2877)Gcc>Tcc p.A959S LUAD 1 10238755 10238755 + Silent SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 g.chr1:10238755A>T c.3192A>T c.(3190-3192)gcA>gcT p.A1064A LUAD 1 10238772 10238772 + Missense_Mutation SNP T T C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 g.chr1:10238772T>C c.3209T>C c.(3208-3210)aTa>aCa p.I1070T LUAD 1 10238837 10238837 + Missense_Mutation SNP G G T TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr1:10238837G>T c.3274G>T c.(3274-3276)Gca>Tca p.A1092S LUAD 1 10239600 10239606 + Frame_Shift_Del DEL CAGAGAG CAGAGAG - TCGA-17-Z013-01A-01W-0746-08 TCGA-17-Z013-11A-01W-0746-08 g.chr1:10239600_10239606delCAGAGAG c.3440_3446delCAGAGAG c.(3439-3447)acagagagcfs p.TES1147fs LUSC 1 10165736 10165736 + Missense_Mutation SNP G G A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 g.chr1:10165736G>A c.743G>A c.(742-744)gGc>gAc p.G248D LUSC 1 10207138 10207138 + Missense_Mutation SNP G G A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 g.chr1:10207138G>A c.2194G>A c.(2194-2196)Gca>Aca p.A732T LUSC 1 10228233 10228233 + Missense_Mutation SNP G G A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 g.chr1:10228233G>A c.2851G>A c.(2851-2853)Gag>Aag p.E951K OV 1 10231358 10231358 + Missense_Mutation SNP C C T TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 g.chr1:10231358C>T c.3109C>T c.(3109-3111)Cgg>Tgg p.R1037W OV 1 10238758 10238758 + Silent SNP G G C TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 g.chr1:10238758G>C c.3195G>C c.(3193-3195)ggG>ggC p.G1065G PAAD 1 10197233 10197233 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 g.chr1:10197233G>A c.1946G>A c.(1945-1947)cGc>cAc p.R649H PAAD 1 10205050 10205050 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:10205050G>A c.2029G>A c.(2029-2031)Gca>Aca p.A677T PAAD 1 10239537 10239537 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:10239537G>A c.3377G>A c.(3376-3378)cGc>cAc p.R1126H PRAD 1 10186877 10186877 + Missense_Mutation SNP T T C TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 g.chr1:10186877T>C c.1193T>C c.(1192-1194)cTg>cCg p.L398P PRAD 1 10207138 10207138 + Missense_Mutation SNP G G A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 g.chr1:10207138G>A c.2194G>A c.(2194-2196)Gca>Aca p.A732T PRAD 1 10231330 10231330 + Silent SNP G G A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 g.chr1:10231330G>A c.3081G>A c.(3079-3081)acG>acA p.T1027T PRAD 1 10231366 10231366 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:10231366G>A c.3117G>A c.(3115-3117)gcG>gcA p.A1039A READ 1 10132264 10132264 + Missense_Mutation SNP G G A TCGA-AG-A036-01A-12W-A096-10 TCGA-AG-A036-11A-11W-A096-10 g.chr1:10132264G>A c.203G>A c.(202-204)gGt>gAt p.G68D READ 1 10161225 10161225 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:10161225G>A c.407G>A c.(406-408)cGa>cAa p.R136Q READ 1 10177622 10177622 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:10177622C>T c.915C>T c.(913-915)ttC>ttT p.F305F READ 1 10231208 10231208 + Nonsense_Mutation SNP C C T TCGA-DC-6681-01A-11D-1826-10 TCGA-DC-6681-10A-01D-1826-10 g.chr1:10231208C>T c.2959C>T c.(2959-2961)Cga>Tga p.R987* SKCM 1 10155574 10155574 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:10155574C>T c.267C>T c.(265-267)ccC>ccT p.P89P SKCM 1 10161224 10161224 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr1:10161224C>T c.406C>T c.(406-408)Cga>Tga p.R136* SKCM 1 10166317 10166317 + Missense_Mutation SNP C C T TCGA-D9-A6E9-06A-12D-A30X-08 TCGA-D9-A6E9-10A-01D-A30X-08 g.chr1:10166317C>T c.872C>T c.(871-873)cCg>cTg p.P291L SKCM 1 10166332 10166332 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr1:10166332C>T c.887C>T c.(886-888)cCt>cTt p.P296L SKCM 1 10166366 10166366 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 g.chr1:10166366C>T c.921C>T c.(919-921)tcC>tcT p.S307S SKCM 1 10182103 10182103 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr1:10182103C>T c.1136C>T c.(1135-1137)aCc>aTc p.T379I SKCM 1 10186901 10186901 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 g.chr1:10186901C>T c.1217C>T c.(1216-1218)tCc>tTc p.S406F SKCM 1 10190589 10190589 + Missense_Mutation SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr1:10190589C>T c.1340C>T c.(1339-1341)tCc>tTc p.S447F SKCM 1 10195090 10195090 + Silent SNP C C T TCGA-EE-A2GP-06A-11D-A197-08 TCGA-EE-A2GP-10A-01D-A199-08 g.chr1:10195090C>T c.1683C>T c.(1681-1683)ttC>ttT p.F561F SKCM 1 10195157 10195157 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr1:10195157C>T c.1750C>T c.(1750-1752)Cac>Tac p.H584Y SKCM 1 10197223 10197223 + Missense_Mutation SNP C C T TCGA-ER-A1A1-06A-11D-A197-08 TCGA-ER-A1A1-10A-01D-A199-08 g.chr1:10197223C>T c.1936C>T c.(1936-1938)Cgc>Tgc p.R646C SKCM 1 10205044 10205044 + Missense_Mutation SNP C C T TCGA-DA-A1I0-06A-11D-A20D-08 TCGA-DA-A1I0-10B-01D-A20D-08 g.chr1:10205044C>T c.2023C>T c.(2023-2025)Cca>Tca p.P675S SKCM 1 10211599 10211599 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chr1:10211599C>T c.2519C>T c.(2518-2520)tCc>tTc p.S840F SKCM 1 10228227 10228227 + Nonsense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:10228227C>T c.2845C>T c.(2845-2847)Cag>Tag p.Q949* SKCM 1 10231363 10231363 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:10231363C>T c.3114C>T c.(3112-3114)ttC>ttT p.F1038F SKCM 1 10239579 10239579 + Missense_Mutation SNP C C T TCGA-EB-A5SG-06A-11D-A30X-08 TCGA-EB-A5SG-10A-01D-A30X-08 g.chr1:10239579C>T c.3419C>T c.(3418-3420)cCc>cTc p.P1140L SKCM 1 10239580 10239580 + Silent SNP C C T TCGA-EB-A5SG-06A-11D-A30X-08 TCGA-EB-A5SG-10A-01D-A30X-08 g.chr1:10239580C>T c.3420C>T c.(3418-3420)ccC>ccT p.P1140P

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation AML-US 1 10238747 10238747 single base substitution C T exon_variant AML-US 1 10238747 10238747 single base substitution C T missense_variant R1062W 3184C>T AML-US 1 10238747 10238747 single base substitution C T missense_variant R1191W 3571C>T AML-US 1 10238747 10238747 single base substitution C T missense_variant R946W 2836C>T AML-US 1 10238747 10238747 single base substitution C T upstream_gene_variant BLCA-US 1 10166548 10166548 single base substitution C T downstream_gene_variant BLCA-US 1 10166548 10166548 single base substitution C T intron_variant BLCA-US 1 10166548 10166548 single base substitution C T missense_variant S368F 1103C>T BLCA-US 1 10166548 10166548 single base substitution C T upstream_gene_variant BLCA-US 1 10186932 10186932 single base substitution C G exon_variant BLCA-US 1 10186932 10186932 single base substitution C G synonymous_variant L300L 900C>G BLCA-US 1 10186932 10186932 single base substitution C G synonymous_variant L38L 114C>G BLCA-US 1 10186932 10186932 single base substitution C G synonymous_variant L416L 1248C>G BLCA-US 1 10186932 10186932 single base substitution C G synonymous_variant L545L 1635C>G BLCA-US 1 10186932 10186932 single base substitution C G upstream_gene_variant BLCA-US 1 10195078 10195078 single base substitution T A downstream_gene_variant BLCA-US 1 10195078 10195078 single base substitution T A exon_variant BLCA-US 1 10195078 10195078 single base substitution T A missense_variant F140L 420T>A BLCA-US 1 10195078 10195078 single base substitution T A missense_variant F441L 1323T>A BLCA-US 1 10195078 10195078 single base substitution T A missense_variant F557L 1671T>A BLCA-US 1 10195078 10195078 single base substitution T A missense_variant F686L 2058T>A BLCA-US 1 10211454 10211454 single base substitution A G missense_variant N676D 2026A>G BLCA-US 1 10211454 10211454 single base substitution A G missense_variant N792D 2374A>G BLCA-US 1 10211454 10211454 single base substitution A G missense_variant N921D 2761A>G BLCA-US 1 10239490 10239490 single base substitution C G exon_variant BLCA-US 1 10239490 10239490 single base substitution C G synonymous_variant T1110T 3330C>G BLCA-US 1 10239490 10239490 single base substitution C G synonymous_variant T1239T 3717C>G BLCA-US 1 10239490 10239490 single base substitution C G synonymous_variant T998T 2994C>G BRCA-EU 1 10089134 10089134 single base substitution G A upstream_gene_variant BRCA-EU 1 10089198 10089198 single base substitution G A upstream_gene_variant BRCA-EU 1 10091571 10091571 single base substitution T C upstream_gene_variant BRCA-EU 1 10095356 10095356 single base substitution G C intron_variant BRCA-EU 1 10095831 10095831 single base substitution C T intron_variant BRCA-EU 1 10096167 10096167 single base substitution T G intron_variant BRCA-EU 1 10097580 10097580 single base substitution T A intron_variant BRCA-EU 1 10099780 10099780 single base substitution G A intron_variant BRCA-EU 1 10101206 10101206 single base substitution G A intron_variant BRCA-EU 1 10103630 10103630 single base substitution G A intron_variant BRCA-EU 1 10103649 10103658 deletion of <=200bp TAATTTTTTT - intron_variant BRCA-EU 1 10104788 10104788 single base substitution C T intron_variant BRCA-EU 1 10107345 10107345 single base substitution G A intron_variant BRCA-EU 1 10107699 10107699 single base substitution C T intron_variant BRCA-EU 1 10109651 10109651 single base substitution A T intron_variant BRCA-EU 1 10113152 10113152 single base substitution C T intron_variant BRCA-EU 1 10113246 10113246 single base substitution G A intron_variant BRCA-EU 1 10113301 10113301 single base substitution G T intron_variant BRCA-EU 1 10113682 10113682 single base substitution C G intron_variant BRCA-EU 1 10115070 10115070 single base substitution C T intron_variant BRCA-EU 1 10115526 10115526 single base substitution C T intron_variant BRCA-EU 1 10116630 10116630 single base substitution C G intron_variant BRCA-EU 1 10119620 10119620 single base substitution G C intron_variant BRCA-EU 1 10119867 10119867 deletion of <=200bp T - intron_variant BRCA-EU 1 10119875 10119875 single base substitution T C intron_variant BRCA-EU 1 10121126 10121126 single base substitution T A intron_variant BRCA-EU 1 10121846 10121846 single base substitution T G intron_variant BRCA-EU 1 10122112 10122112 single base substitution C T intron_variant BRCA-EU 1 10122411 10122411 single base substitution C T intron_variant BRCA-EU 1 10124502 10124502 single base substitution A G intron_variant BRCA-EU 1 10124767 10124767 deletion of <=200bp A - intron_variant BRCA-EU 1 10127464 10127464 single base substitution G A intron_variant BRCA-EU 1 10127593 10127593 single base substitution A G intron_variant BRCA-EU 1 10128259 10128259 single base substitution G C intron_variant BRCA-EU 1 10128974 10128974 single base substitution G A intron_variant BRCA-EU 1 10130081 10130081 single base substitution C G intron_variant BRCA-EU 1 10130579 10130579 single base substitution C T intron_variant BRCA-EU 1 10130801 10130801 single base substitution G A intron_variant BRCA-EU 1 10137445 10137445 single base substitution G C downstream_gene_variant BRCA-EU 1 10137445 10137445 single base substitution G C intron_variant BRCA-EU 1 10138091 10138091 single base substitution G A downstream_gene_variant BRCA-EU 1 10138091 10138091 single base substitution G A intron_variant BRCA-EU 1 10138807 10138807 single base substitution C T intron_variant BRCA-EU 1 10138810 10138810 single base substitution C T intron_variant BRCA-EU 1 10138991 10138991 single base substitution C T intron_variant BRCA-EU 1 10140309 10140309 single base substitution C G intron_variant BRCA-EU 1 10145175 10145175 single base substitution C G intron_variant BRCA-EU 1 10145845 10145845 single base substitution C A intron_variant BRCA-EU 1 10148756 10148756 single base substitution G C intron_variant BRCA-EU 1 10148895 10148895 single base substitution C T intron_variant BRCA-EU 1 10148954 10148954 single base substitution C G intron_variant BRCA-EU 1 10149001 10149001 single base substitution T C intron_variant BRCA-EU 1 10149332 10149332 single base substitution G T intron_variant BRCA-EU 1 10151454 10151454 single base substitution G C intron_variant BRCA-EU 1 10153759 10153759 single base substitution T C intron_variant BRCA-EU 1 10155497 10155497 single base substitution C T intron_variant BRCA-EU 1 10158903 10158903 single base substitution A G intron_variant BRCA-EU 1 10158903 10158903 single base substitution A G upstream_gene_variant BRCA-EU 1 10159951 10159951 single base substitution G A intron_variant BRCA-EU 1 10159951 10159951 single base substitution G A upstream_gene_variant BRCA-EU 1 10160384 10160384 deletion of <=200bp T - intron_variant BRCA-EU 1 10160384 10160384 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 10160737 10160737 single base substitution C T intron_variant BRCA-EU 1 10160737 10160737 single base substitution C T upstream_gene_variant BRCA-EU 1 10162617 10162617 single base substitution C T intron_variant BRCA-EU 1 10162617 10162617 single base substitution C T upstream_gene_variant BRCA-EU 1 10164004 10164004 single base substitution G C downstream_gene_variant BRCA-EU 1 10164004 10164004 single base substitution G C intron_variant BRCA-EU 1 10164004 10164004 single base substitution G C upstream_gene_variant BRCA-EU 1 10166053 10166053 single base substitution C T downstream_gene_variant BRCA-EU 1 10166053 10166053 single base substitution C T intron_variant BRCA-EU 1 10166053 10166053 single base substitution C T upstream_gene_variant BRCA-EU 1 10167055 10167055 single base substitution C G downstream_gene_variant BRCA-EU 1 10167055 10167055 single base substitution C G intron_variant BRCA-EU 1 10167055 10167055 single base substitution C G upstream_gene_variant BRCA-EU 1 10168663 10168663 single base substitution A G intron_variant BRCA-EU 1 10170973 10170973 single base substitution G A intron_variant BRCA-EU 1 10173789 10173789 single base substitution C T intron_variant BRCA-EU 1 10175301 10175301 single base substitution C T intron_variant BRCA-EU 1 10177886 10177886 single base substitution G C intron_variant BRCA-EU 1 10177886 10177886 single base substitution G C upstream_gene_variant BRCA-EU 1 10178324 10178324 single base substitution A T intron_variant BRCA-EU 1 10178324 10178324 single base substitution A T upstream_gene_variant BRCA-EU 1 10178873 10178873 single base substitution T A intron_variant BRCA-EU 1 10178873 10178873 single base substitution T A upstream_gene_variant BRCA-EU 1 10181489 10181489 single base substitution G C intron_variant BRCA-EU 1 10181489 10181489 single base substitution G C upstream_gene_variant BRCA-EU 1 10183014 10183014 single base substitution C A intron_variant BRCA-EU 1 10185045 10185045 single base substitution G A intron_variant BRCA-EU 1 10185045 10185045 single base substitution G A upstream_gene_variant BRCA-EU 1 10185839 10185839 single base substitution T C intron_variant BRCA-EU 1 10185839 10185839 single base substitution T C upstream_gene_variant BRCA-EU 1 10187373 10187373 single base substitution A G intron_variant BRCA-EU 1 10187373 10187373 single base substitution A G upstream_gene_variant BRCA-EU 1 10189100 10189100 single base substitution A G exon_variant BRCA-EU 1 10189100 10189100 single base substitution A G intron_variant BRCA-EU 1 10189893 10189893 single base substitution T G intron_variant BRCA-EU 1 10190306 10190311 deletion of <=200bp TATTTT - intron_variant BRCA-EU 1 10190532 10190532 single base substitution G A intron_variant BRCA-EU 1 10190627 10190627 single base substitution T C exon_variant BRCA-EU 1 10190627 10190627 single base substitution T C intron_variant BRCA-EU 1 10190627 10190627 single base substitution T C missense_variant S344P 1030T>C BRCA-EU 1 10190627 10190627 single base substitution T C missense_variant S460P 1378T>C BRCA-EU 1 10190627 10190627 single base substitution T C missense_variant S589P 1765T>C BRCA-EU 1 10192187 10192187 insertion of <=200bp - AA intron_variant BRCA-EU 1 10193140 10193140 single base substitution G A downstream_gene_variant BRCA-EU 1 10193140 10193140 single base substitution G A intron_variant BRCA-EU 1 10193945 10193945 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 10193945 10193945 deletion of <=200bp A - intron_variant BRCA-EU 1 10194334 10194334 single base substitution C T downstream_gene_variant BRCA-EU 1 10194334 10194334 single base substitution C T intron_variant BRCA-EU 1 10194683 10194683 single base substitution G A downstream_gene_variant BRCA-EU 1 10194683 10194683 single base substitution G A intron_variant BRCA-EU 1 10196086 10196086 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 10196086 10196086 deletion of <=200bp A - intron_variant BRCA-EU 1 10196266 10196266 single base substitution C G downstream_gene_variant BRCA-EU 1 10196266 10196266 single base substitution C G intron_variant BRCA-EU 1 10196736 10196736 single base substitution G T downstream_gene_variant BRCA-EU 1 10196736 10196736 single base substitution G T intron_variant BRCA-EU 1 10197049 10197049 single base substitution C G downstream_gene_variant BRCA-EU 1 10197049 10197049 single base substitution C G intron_variant BRCA-EU 1 10197606 10197608 deletion of <=200bp CTT - intron_variant BRCA-EU 1 10198695 10198695 deletion of <=200bp T - intron_variant BRCA-EU 1 10198790 10198790 single base substitution G A intron_variant BRCA-EU 1 10200965 10200965 single base substitution C G intron_variant BRCA-EU 1 10201104 10201104 single base substitution G C intron_variant BRCA-EU 1 10201258 10201258 single base substitution T C intron_variant BRCA-EU 1 10202800 10202800 single base substitution G T intron_variant BRCA-EU 1 10203246 10203246 single base substitution G C intron_variant BRCA-EU 1 10203265 10203265 single base substitution C T intron_variant BRCA-EU 1 10203283 10203283 single base substitution G A intron_variant BRCA-EU 1 10203492 10203492 single base substitution C T intron_variant BRCA-EU 1 10204880 10204880 single base substitution A C intron_variant BRCA-EU 1 10205867 10205867 single base substitution C A downstream_gene_variant BRCA-EU 1 10205867 10205867 single base substitution C A intron_variant BRCA-EU 1 10205975 10205975 single base substitution C A downstream_gene_variant BRCA-EU 1 10205975 10205975 single base substitution C A intron_variant BRCA-EU 1 10206164 10206164 single base substitution G A downstream_gene_variant BRCA-EU 1 10206164 10206164 single base substitution G A intron_variant BRCA-EU 1 10206998 10206998 single base substitution T C downstream_gene_variant BRCA-EU 1 10206998 10206998 single base substitution T C intron_variant BRCA-EU 1 10207556 10207556 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 10207556 10207556 deletion of <=200bp A - intron_variant BRCA-EU 1 10210354 10210354 single base substitution T C downstream_gene_variant BRCA-EU 1 10210354 10210354 single base substitution T C intron_variant BRCA-EU 1 10213204 10213204 single base substitution G C intron_variant BRCA-EU 1 10214186 10214186 single base substitution A G intron_variant BRCA-EU 1 10214186 10214186 single base substitution A G upstream_gene_variant BRCA-EU 1 10214661 10214661 single base substitution T C intron_variant BRCA-EU 1 10214661 10214661 single base substitution T C upstream_gene_variant BRCA-EU 1 10215209 10215209 single base substitution C T intron_variant BRCA-EU 1 10215209 10215209 single base substitution C T upstream_gene_variant BRCA-EU 1 10215790 10215790 single base substitution C T intron_variant BRCA-EU 1 10215790 10215790 single base substitution C T upstream_gene_variant BRCA-EU 1 10217967 10217967 deletion of <=200bp T - intron_variant BRCA-EU 1 10217967 10217967 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 10218755 10218755 deletion of <=200bp G - intron_variant BRCA-EU 1 10218792 10218792 single base substitution C A intron_variant BRCA-EU 1 10218936 10218936 single base substitution C T intron_variant BRCA-EU 1 10221908 10221908 single base substitution G C intron_variant BRCA-EU 1 10224946 10224946 single base substitution C A intron_variant BRCA-EU 1 10225173 10225173 single base substitution C G intron_variant BRCA-EU 1 10227190 10227190 deletion of <=200bp A - intron_variant BRCA-EU 1 10227190 10227190 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 10229329 10229329 single base substitution G A intron_variant BRCA-EU 1 10229329 10229329 single base substitution G A upstream_gene_variant BRCA-EU 1 10230580 10230580 single base substitution G A intron_variant BRCA-EU 1 10230580 10230580 single base substitution G A upstream_gene_variant BRCA-EU 1 10230816 10230816 single base substitution G T intron_variant BRCA-EU 1 10230816 10230816 single base substitution G T upstream_gene_variant BRCA-EU 1 10232890 10232890 single base substitution G C downstream_gene_variant BRCA-EU 1 10232890 10232890 single base substitution G C intron_variant BRCA-EU 1 10233408 10233408 single base substitution C T downstream_gene_variant BRCA-EU 1 10233408 10233408 single base substitution C T intron_variant BRCA-EU 1 10234267 10234267 single base substitution G A downstream_gene_variant BRCA-EU 1 10234267 10234267 single base substitution G A intron_variant BRCA-EU 1 10234267 10234267 single base substitution G A upstream_gene_variant BRCA-EU 1 10236637 10236637 single base substitution C G intron_variant BRCA-EU 1 10236637 10236637 single base substitution C G upstream_gene_variant BRCA-EU 1 10237149 10237149 single base substitution G A intron_variant BRCA-EU 1 10237149 10237149 single base substitution G A upstream_gene_variant BRCA-EU 1 10237803 10237803 single base substitution C T intron_variant BRCA-EU 1 10237803 10237803 single base substitution C T upstream_gene_variant BRCA-EU 1 10239827 10239827 single base substitution T C intron_variant BRCA-EU 1 10239836 10239836 single base substitution C T intron_variant BRCA-EU 1 10240355 10240355 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 1 10240355 10240355 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 10242219 10242219 single base substitution C T downstream_gene_variant BRCA-EU 1 10243029 10243029 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 10243615 10243615 single base substitution C A downstream_gene_variant BRCA-FR 1 10142745 10142745 single base substitution C T intron_variant BRCA-FR 1 10151454 10151454 single base substitution G C intron_variant BRCA-FR 1 10155497 10155497 single base substitution C T intron_variant BRCA-FR 1 10160737 10160737 single base substitution C T intron_variant BRCA-FR 1 10160737 10160737 single base substitution C T upstream_gene_variant BRCA-FR 1 10167055 10167055 single base substitution C G downstream_gene_variant BRCA-FR 1 10167055 10167055 single base substitution C G intron_variant BRCA-FR 1 10167055 10167055 single base substitution C G upstream_gene_variant BRCA-FR 1 10190532 10190532 single base substitution G A intron_variant BRCA-FR 1 10201104 10201104 single base substitution G C intron_variant BRCA-FR 1 10202800 10202800 single base substitution G T intron_variant BRCA-FR 1 10203265 10203265 single base substitution C T intron_variant BRCA-FR 1 10203283 10203283 single base substitution G A intron_variant BRCA-FR 1 10203492 10203492 single base substitution C T intron_variant BRCA-FR 1 10205867 10205867 single base substitution C A downstream_gene_variant BRCA-FR 1 10205867 10205867 single base substitution C A intron_variant BRCA-FR 1 10206164 10206164 single base substitution G A downstream_gene_variant BRCA-FR 1 10206164 10206164 single base substitution G A intron_variant BRCA-FR 1 10215209 10215209 single base substitution C T intron_variant BRCA-FR 1 10215209 10215209 single base substitution C T upstream_gene_variant BRCA-FR 1 10215790 10215790 single base substitution C T intron_variant BRCA-FR 1 10215790 10215790 single base substitution C T upstream_gene_variant BRCA-FR 1 10229329 10229329 single base substitution G A intron_variant BRCA-FR 1 10229329 10229329 single base substitution G A upstream_gene_variant BRCA-FR 1 10231796 10231796 single base substitution C T downstream_gene_variant BRCA-FR 1 10231796 10231796 single base substitution C T intron_variant BRCA-FR 1 10232448 10232448 single base substitution C G downstream_gene_variant BRCA-FR 1 10232448 10232448 single base substitution C G intron_variant BRCA-FR 1 10235745 10235745 single base substitution A G downstream_gene_variant BRCA-FR 1 10235745 10235745 single base substitution A G intron_variant BRCA-FR 1 10235745 10235745 single base substitution A G upstream_gene_variant BRCA-FR 1 10236637 10236637 single base substitution C G intron_variant BRCA-FR 1 10236637 10236637 single base substitution C G upstream_gene_variant BRCA-UK 1 10091571 10091571 single base substitution T C upstream_gene_variant BRCA-UK 1 10098393 10098393 single base substitution G A intron_variant BRCA-UK 1 10103086 10103086 single base substitution G A intron_variant BRCA-UK 1 10171491 10171491 single base substitution C G intron_variant BRCA-UK 1 10186890 10186890 single base substitution C G exon_variant BRCA-UK 1 10186890 10186890 single base substitution C G synonymous_variant A24A 72C>G BRCA-UK 1 10186890 10186890 single base substitution C G synonymous_variant A286A 858C>G BRCA-UK 1 10186890 10186890 single base substitution C G synonymous_variant A402A 1206C>G BRCA-UK 1 10186890 10186890 single base substitution C G synonymous_variant A531A 1593C>G BRCA-UK 1 10186890 10186890 single base substitution C G upstream_gene_variant BRCA-UK 1 10195147 10195147 single base substitution G A downstream_gene_variant BRCA-UK 1 10195147 10195147 single base substitution G A exon_variant BRCA-UK 1 10195147 10195147 single base substitution G A synonymous_variant T163T 489G>A BRCA-UK 1 10195147 10195147 single base substitution G A synonymous_variant T464T 1392G>A BRCA-UK 1 10195147 10195147 single base substitution G A synonymous_variant T580T 1740G>A BRCA-UK 1 10195147 10195147 single base substitution G A synonymous_variant T709T 2127G>A BRCA-US 1 10132172 10132172 single base substitution T C 5_prime_UTR_variant BRCA-US 1 10132172 10132172 single base substitution T C synonymous_variant P37P 111T>C BRCA-US 1 10161225 10161225 single base substitution G A exon_variant BRCA-US 1 10161225 10161225 single base substitution G A missense_variant R136Q 407G>A BRCA-US 1 10161225 10161225 single base substitution G A missense_variant R20Q 59G>A BRCA-US 1 10163031 10163031 single base substitution C G exon_variant BRCA-US 1 10163031 10163031 single base substitution C G missense_variant S154C 461C>G BRCA-US 1 10163031 10163031 single base substitution C G missense_variant S38C 113C>G BRCA-US 1 10163031 10163031 single base substitution C G upstream_gene_variant BRCA-US 1 10163069 10163069 single base substitution C A exon_variant BRCA-US 1 10163069 10163069 single base substitution C A missense_variant R167S 499C>A BRCA-US 1 10163069 10163069 single base substitution C A missense_variant R51S 151C>A BRCA-US 1 10163069 10163069 single base substitution C A upstream_gene_variant BRCA-US 1 10163139 10163139 single base substitution A G exon_variant BRCA-US 1 10163139 10163139 single base substitution A G missense_variant N190S 569A>G BRCA-US 1 10163139 10163139 single base substitution A G missense_variant N74S 221A>G BRCA-US 1 10163139 10163139 single base substitution A G upstream_gene_variant BRCA-US 1 10166258 10166258 single base substitution C G downstream_gene_variant BRCA-US 1 10166258 10166258 single base substitution C G intron_variant BRCA-US 1 10166258 10166258 single base substitution C G synonymous_variant L271L 813C>G BRCA-US 1 10166258 10166258 single base substitution C G upstream_gene_variant BRCA-US 1 10177641 10177641 insertion of <=200bp - A exon_variant BRCA-US 1 10177641 10177641 insertion of <=200bp - A frameshift_variant E196R? BRCA-US 1 10177641 10177641 insertion of <=200bp - A frameshift_variant E312R? BRCA-US 1 10177641 10177641 insertion of <=200bp - A frameshift_variant E441R? BRCA-US 1 10177641 10177641 insertion of <=200bp - A upstream_gene_variant BRCA-US 1 10186920 10186920 single base substitution T C exon_variant BRCA-US 1 10186920 10186920 single base substitution T C synonymous_variant F296F 888T>C BRCA-US 1 10186920 10186920 single base substitution T C synonymous_variant F34F 102T>C BRCA-US 1 10186920 10186920 single base substitution T C synonymous_variant F412F 1236T>C BRCA-US 1 10186920 10186920 single base substitution T C synonymous_variant F541F 1623T>C BRCA-US 1 10186920 10186920 single base substitution T C upstream_gene_variant BRCA-US 1 10190626 10190626 single base substitution C G exon_variant BRCA-US 1 10190626 10190626 single base substitution C G intron_variant BRCA-US 1 10190626 10190626 single base substitution C G synonymous_variant L343L 1029C>G BRCA-US 1 10190626 10190626 single base substitution C G synonymous_variant L459L 1377C>G BRCA-US 1 10190626 10190626 single base substitution C G synonymous_variant L588L 1764C>G BRCA-US 1 10197233 10197233 single base substitution G A downstream_gene_variant BRCA-US 1 10197233 10197233 single base substitution G A intron_variant BRCA-US 1 10197233 10197233 single base substitution G A missense_variant R232H 695G>A BRCA-US 1 10197233 10197233 single base substitution G A missense_variant R533H 1598G>A BRCA-US 1 10197233 10197233 single base substitution G A missense_variant R649H 1946G>A BRCA-US 1 10197233 10197233 single base substitution G A missense_variant R778H 2333G>A BRCA-US 1 10205077 10205077 single base substitution C T exon_variant BRCA-US 1 10205077 10205077 single base substitution C T missense_variant R269C 805C>T BRCA-US 1 10205077 10205077 single base substitution C T missense_variant R570C 1708C>T BRCA-US 1 10205077 10205077 single base substitution C T missense_variant R686C 2056C>T BRCA-US 1 10205077 10205077 single base substitution C T missense_variant R815C 2443C>T BRCA-US 1 10221207 10221207 single base substitution A G exon_variant BRCA-US 1 10221207 10221207 single base substitution A G missense_variant K1021E 3061A>G BRCA-US 1 10221207 10221207 single base substitution A G missense_variant K776E 2326A>G BRCA-US 1 10221207 10221207 single base substitution A G missense_variant K892E 2674A>G BRCA-US 1 10228305 10228305 single base substitution G T 3_prime_UTR_variant BRCA-US 1 10228305 10228305 single base substitution G T missense_variant V1104F 3310G>T BRCA-US 1 10228305 10228305 single base substitution G T missense_variant V859F 2575G>T BRCA-US 1 10228305 10228305 single base substitution G T missense_variant V975F 2923G>T BRCA-US 1 10228305 10228305 single base substitution G T upstream_gene_variant BRCA-US 1 10231364 10231364 single base substitution G A downstream_gene_variant BRCA-US 1 10231364 10231364 single base substitution G A exon_variant BRCA-US 1 10231364 10231364 single base substitution G A missense_variant A1039T 3115G>A BRCA-US 1 10231364 10231364 single base substitution G A missense_variant A1168T 3502G>A BRCA-US 1 10231364 10231364 single base substitution G A missense_variant A923T 2767G>A BTCA-JP 1 10093588 10093588 single base substitution C A 5_prime_UTR_variant BTCA-JP 1 10093588 10093588 single base substitution C A upstream_gene_variant BTCA-JP 1 10132438 10132438 deletion of <=200bp T - intron_variant BTCA-JP 1 10177589 10177589 single base substitution G C exon_variant BTCA-JP 1 10177589 10177589 single base substitution G C missense_variant E178D 534G>C BTCA-JP 1 10177589 10177589 single base substitution G C missense_variant E294D 882G>C BTCA-JP 1 10177589 10177589 single base substitution G C missense_variant E423D 1269G>C BTCA-JP 1 10177589 10177589 single base substitution G C upstream_gene_variant BTCA-JP 1 10182120 10182120 single base substitution G C exon_variant BTCA-JP 1 10182120 10182120 single base substitution G C missense_variant E269Q 805G>C BTCA-JP 1 10182120 10182120 single base substitution G C missense_variant E385Q 1153G>C BTCA-JP 1 10182120 10182120 single base substitution G C missense_variant E514Q 1540G>C BTCA-JP 1 10182120 10182120 single base substitution G C missense_variant E7Q 19G>C BTCA-JP 1 10239394 10239394 single base substitution C T intron_variant CESC-US 1 10163088 10163088 single base substitution G A exon_variant CESC-US 1 10163088 10163088 single base substitution G A missense_variant R173Q 518G>A CESC-US 1 10163088 10163088 single base substitution G A missense_variant R57Q 170G>A CESC-US 1 10163088 10163088 single base substitution G A upstream_gene_variant CESC-US 1 10195164 10195164 single base substitution G C downstream_gene_variant CESC-US 1 10195164 10195164 single base substitution G C exon_variant CESC-US 1 10195164 10195164 single base substitution G C missense_variant R169T 506G>C CESC-US 1 10195164 10195164 single base substitution G C missense_variant R470T 1409G>C CESC-US 1 10195164 10195164 single base substitution G C missense_variant R586T 1757G>C CESC-US 1 10195164 10195164 single base substitution G C missense_variant R715T 2144G>C CLLE-ES 1 10092603 10092603 single base substitution G C upstream_gene_variant CLLE-ES 1 10093054 10093054 single base substitution A C 5_prime_UTR_variant CLLE-ES 1 10093054 10093054 single base substitution A C upstream_gene_variant CLLE-ES 1 10150794 10150794 single base substitution A G intron_variant CLLE-ES 1 10185651 10185651 single base substitution C A intron_variant CLLE-ES 1 10185651 10185651 single base substitution C A upstream_gene_variant CLLE-ES 1 10206916 10206916 single base substitution C G downstream_gene_variant CLLE-ES 1 10206916 10206916 single base substitution C G intron_variant CLLE-ES 1 10220613 10220613 single base substitution T A intron_variant CLLE-ES 1 10233074 10233074 single base substitution C T downstream_gene_variant CLLE-ES 1 10233074 10233074 single base substitution C T intron_variant CLLE-ES 1 10244988 10244988 single base substitution G A downstream_gene_variant COAD-US 1 10163152 10163152 single base substitution T C exon_variant COAD-US 1 10163152 10163152 single base substitution T C splice_donor_variant COAD-US 1 10163152 10163152 single base substitution T C upstream_gene_variant COAD-US 1 10165689 10165689 single base substitution T C downstream_gene_variant COAD-US 1 10165689 10165689 single base substitution T C synonymous_variant I116I 348T>C COAD-US 1 10165689 10165689 single base substitution T C synonymous_variant I232I 696T>C COAD-US 1 10165689 10165689 single base substitution T C upstream_gene_variant COAD-US 1 10165719 10165720 deletion of <=200bp TC - downstream_gene_variant COAD-US 1 10165719 10165720 deletion of <=200bp TC - frameshift_variant NL126 COAD-US 1 10165719 10165720 deletion of <=200bp TC - frameshift_variant NL242 COAD-US 1 10165719 10165720 deletion of <=200bp TC - upstream_gene_variant COAD-US 1 10165792 10165792 single base substitution T C downstream_gene_variant COAD-US 1 10165792 10165792 single base substitution T C missense_variant S151P 451T>C COAD-US 1 10165792 10165792 single base substitution T C missense_variant S267P 799T>C COAD-US 1 10165792 10165792 single base substitution T C upstream_gene_variant COAD-US 1 10166432 10166432 single base substitution G A downstream_gene_variant COAD-US 1 10166432 10166432 single base substitution G A intron_variant COAD-US 1 10166432 10166432 single base substitution G A synonymous_variant R329R 987G>A COAD-US 1 10166432 10166432 single base substitution G A upstream_gene_variant COAD-US 1 10177613 10177613 single base substitution C T exon_variant COAD-US 1 10177613 10177613 single base substitution C T synonymous_variant I186I 558C>T COAD-US 1 10177613 10177613 single base substitution C T synonymous_variant I302I 906C>T COAD-US 1 10177613 10177613 single base substitution C T synonymous_variant I431I 1293C>T COAD-US 1 10177613 10177613 single base substitution C T upstream_gene_variant COAD-US 1 10190571 10190571 single base substitution G A exon_variant COAD-US 1 10190571 10190571 single base substitution G A intron_variant COAD-US 1 10190571 10190571 single base substitution G A missense_variant R325Q 974G>A COAD-US 1 10190571 10190571 single base substitution G A missense_variant R441Q 1322G>A COAD-US 1 10190571 10190571 single base substitution G A missense_variant R570Q 1709G>A COAD-US 1 10190572 10190572 single base substitution G C exon_variant COAD-US 1 10190572 10190572 single base substitution G C intron_variant COAD-US 1 10190572 10190572 single base substitution G C synonymous_variant R325R 975G>C COAD-US 1 10190572 10190572 single base substitution G C synonymous_variant R441R 1323G>C COAD-US 1 10190572 10190572 single base substitution G C synonymous_variant R570R 1710G>C COAD-US 1 10192468 10192468 single base substitution C T exon_variant COAD-US 1 10192468 10192468 single base substitution C T synonymous_variant G105G 315C>T COAD-US 1 10192468 10192468 single base substitution C T synonymous_variant G406G 1218C>T COAD-US 1 10192468 10192468 single base substitution C T synonymous_variant G522G 1566C>T COAD-US 1 10192468 10192468 single base substitution C T synonymous_variant G651G 1953C>T COAD-US 1 10197263 10197263 single base substitution G T downstream_gene_variant COAD-US 1 10197263 10197263 single base substitution G T intron_variant COAD-US 1 10197263 10197263 single base substitution G T missense_variant R242I 725G>T COAD-US 1 10197263 10197263 single base substitution G T missense_variant R543I 1628G>T COAD-US 1 10197263 10197263 single base substitution G T missense_variant R659I 1976G>T COAD-US 1 10197263 10197263 single base substitution G T missense_variant R788I 2363G>T COAD-US 1 10209327 10209327 deletion of <=200bp T - downstream_gene_variant COAD-US 1 10209327 10209327 deletion of <=200bp T - frameshift_variant F648 COAD-US 1 10209327 10209327 deletion of <=200bp T - frameshift_variant F764 COAD-US 1 10209327 10209327 deletion of <=200bp T - frameshift_variant F893 COAD-US 1 10211549 10211549 single base substitution T G missense_variant F707L 2121T>G COAD-US 1 10211549 10211549 single base substitution T G missense_variant F823L 2469T>G COAD-US 1 10211549 10211549 single base substitution T G missense_variant F952L 2856T>G COAD-US 1 10211619 10211619 single base substitution G A missense_variant D731N 2191G>A COAD-US 1 10211619 10211619 single base substitution G A missense_variant D847N 2539G>A COAD-US 1 10211619 10211619 single base substitution G A missense_variant D976N 2926G>A COAD-US 1 10221278 10221278 single base substitution T C exon_variant COAD-US 1 10221278 10221278 single base substitution T C synonymous_variant S1044S 3132T>C COAD-US 1 10221278 10221278 single base substitution T C synonymous_variant S799S 2397T>C COAD-US 1 10221278 10221278 single base substitution T C synonymous_variant S915S 2745T>C COAD-US 1 10231210 10231210 insertion of <=200bp - T 3_prime_UTR_variant COAD-US 1 10231210 10231210 insertion of <=200bp - T exon_variant COAD-US 1 10231210 10231210 insertion of <=200bp - T frameshift_variant R1116R? COAD-US 1 10231210 10231210 insertion of <=200bp - T frameshift_variant R871R? COAD-US 1 10231210 10231210 insertion of <=200bp - T frameshift_variant R987R? COAD-US 1 10231236 10231236 single base substitution T A 3_prime_UTR_variant COAD-US 1 10231236 10231236 single base substitution T A exon_variant COAD-US 1 10231236 10231236 single base substitution T A missense_variant L1125H 3374T>A COAD-US 1 10231236 10231236 single base substitution T A missense_variant L880H 2639T>A COAD-US 1 10231236 10231236 single base substitution T A missense_variant L996H 2987T>A COAD-US 1 10231304 10231304 single base substitution C T downstream_gene_variant COAD-US 1 10231304 10231304 single base substitution C T exon_variant COAD-US 1 10231304 10231304 single base substitution C T missense_variant P1019S 3055C>T COAD-US 1 10231304 10231304 single base substitution C T missense_variant P1148S 3442C>T COAD-US 1 10231304 10231304 single base substitution C T missense_variant P903S 2707C>T COAD-US 1 10239594 10239594 single base substitution C T exon_variant COAD-US 1 10239594 10239594 single base substitution C T missense_variant T1033M 3098C>T COAD-US 1 10239594 10239594 single base substitution C T missense_variant T1145M 3434C>T COAD-US 1 10239594 10239594 single base substitution C T missense_variant T1274M 3821C>T COCA-CN 1 10163120 10163120 single base substitution T G exon_variant COCA-CN 1 10163120 10163120 single base substitution T G missense_variant S184A 550T>G COCA-CN 1 10163120 10163120 single base substitution T G missense_variant S68A 202T>G COCA-CN 1 10163120 10163120 single base substitution T G upstream_gene_variant COCA-CN 1 10165794 10165795 deletion of <=200bp TT - downstream_gene_variant COCA-CN 1 10165794 10165795 deletion of <=200bp TT - frameshift_variant SL151 COCA-CN 1 10165794 10165795 deletion of <=200bp TT - frameshift_variant SL267 COCA-CN 1 10165794 10165795 deletion of <=200bp TT - upstream_gene_variant COCA-CN 1 10166527 10166527 single base substitution A G downstream_gene_variant COCA-CN 1 10166527 10166527 single base substitution A G intron_variant COCA-CN 1 10166527 10166527 single base substitution A G missense_variant Q361R 1082A>G COCA-CN 1 10166527 10166527 single base substitution A G upstream_gene_variant COCA-CN 1 10167366 10167366 single base substitution A G downstream_gene_variant COCA-CN 1 10167366 10167366 single base substitution A G intron_variant COCA-CN 1 10167366 10167366 single base substitution A G upstream_gene_variant COCA-CN 1 10177518 10177518 single base substitution T G missense_variant L155V 463T>G COCA-CN 1 10177518 10177518 single base substitution T G missense_variant L271V 811T>G COCA-CN 1 10177518 10177518 single base substitution T G missense_variant L400V 1198T>G COCA-CN 1 10177518 10177518 single base substitution T G splice_region_variant COCA-CN 1 10177518 10177518 single base substitution T G upstream_gene_variant COCA-CN 1 10190756 10190756 single base substitution T G intron_variant COCA-CN 1 10192376 10192376 single base substitution C A intron_variant COCA-CN 1 10192403 10192403 single base substitution C A intron_variant COCA-CN 1 10205218 10205218 single base substitution T C downstream_gene_variant COCA-CN 1 10205218 10205218 single base substitution T C exon_variant COCA-CN 1 10205218 10205218 single base substitution T C intron_variant COCA-CN 1 10211488 10211488 single base substitution C T missense_variant A687V 2060C>T COCA-CN 1 10211488 10211488 single base substitution C T missense_variant A803V 2408C>T COCA-CN 1 10211488 10211488 single base substitution C T missense_variant A932V 2795C>T COCA-CN 1 10238698 10238698 single base substitution G A splice_region_variant COCA-CN 1 10238698 10238698 single base substitution G A upstream_gene_variant COCA-CN 1 10239536 10239536 single base substitution C T exon_variant COCA-CN 1 10239536 10239536 single base substitution C T missense_variant R1014C 3040C>T COCA-CN 1 10239536 10239536 single base substitution C T missense_variant R1126C 3376C>T COCA-CN 1 10239536 10239536 single base substitution C T missense_variant R1255C 3763C>T EOPC-DE 1 10124459 10124459 single base substitution G T intron_variant EOPC-DE 1 10166589 10166589 single base substitution G A downstream_gene_variant EOPC-DE 1 10166589 10166589 single base substitution G A intron_variant EOPC-DE 1 10166589 10166589 single base substitution G A missense_variant A382T 1144G>A EOPC-DE 1 10166589 10166589 single base substitution G A upstream_gene_variant EOPC-DE 1 10218247 10218247 single base substitution A C intron_variant EOPC-DE 1 10218247 10218247 single base substitution A C upstream_gene_variant ESAD-UK 1 10088235 10088235 single base substitution A T upstream_gene_variant ESAD-UK 1 10089185 10089185 single base substitution G C upstream_gene_variant ESAD-UK 1 10089217 10089217 single base substitution C T upstream_gene_variant ESAD-UK 1 10091123 10091123 single base substitution C T upstream_gene_variant ESAD-UK 1 10092596 10092596 single base substitution C G upstream_gene_variant ESAD-UK 1 10093170 10093170 single base substitution G A 5_prime_UTR_variant ESAD-UK 1 10093170 10093170 single base substitution G A upstream_gene_variant ESAD-UK 1 10098029 10098029 single base substitution G A intron_variant ESAD-UK 1 10099898 10099898 single base substitution G A intron_variant ESAD-UK 1 10100893 10100893 single base substitution G T intron_variant ESAD-UK 1 10104163 10104163 single base substitution C T intron_variant ESAD-UK 1 10104498 10104498 single base substitution G T intron_variant ESAD-UK 1 10105662 10105662 single base substitution G A intron_variant ESAD-UK 1 10105789 10105789 single base substitution G C intron_variant ESAD-UK 1 10106060 10106060 single base substitution T G intron_variant ESAD-UK 1 10107725 10107725 single base substitution T A intron_variant ESAD-UK 1 10110165 10110165 single base substitution C G intron_variant ESAD-UK 1 10114131 10114131 single base substitution A T intron_variant ESAD-UK 1 10115542 10115542 single base substitution T A intron_variant ESAD-UK 1 10118955 10118955 single base substitution T G intron_variant ESAD-UK 1 10120583 10120583 single base substitution C T intron_variant ESAD-UK 1 10122156 10122156 single base substitution C T intron_variant ESAD-UK 1 10123187 10123187 single base substitution G C intron_variant ESAD-UK 1 10123834 10123834 single base substitution C T intron_variant ESAD-UK 1 10129600 10129600 single base substitution C G intron_variant ESAD-UK 1 10130455 10130455 single base substitution T G intron_variant ESAD-UK 1 10130666 10130666 deletion of <=200bp T - intron_variant ESAD-UK 1 10133497 10133497 single base substitution T C downstream_gene_variant ESAD-UK 1 10133497 10133497 single base substitution T C intron_variant ESAD-UK 1 10135063 10135063 single base substitution G A downstream_gene_variant ESAD-UK 1 10135063 10135063 single base substitution G A intron_variant ESAD-UK 1 10136884 10136884 single base substitution A G downstream_gene_variant ESAD-UK 1 10136884 10136884 single base substitution A G intron_variant ESAD-UK 1 10137765 10137765 single base substitution C T downstream_gene_variant ESAD-UK 1 10137765 10137765 single base substitution C T intron_variant ESAD-UK 1 10137838 10137838 single base substitution A C downstream_gene_variant ESAD-UK 1 10137838 10137838 single base substitution A C intron_variant ESAD-UK 1 10137945 10137945 single base substitution T C downstream_gene_variant ESAD-UK 1 10137945 10137945 single base substitution T C intron_variant ESAD-UK 1 10139063 10139063 single base substitution G C intron_variant ESAD-UK 1 10141894 10141894 single base substitution G T intron_variant ESAD-UK 1 10142406 10142406 single base substitution C A intron_variant ESAD-UK 1 10142484 10142484 deletion of <=200bp G - intron_variant ESAD-UK 1 10145063 10145063 single base substitution C G intron_variant ESAD-UK 1 10146037 10146037 insertion of <=200bp - ATTTTTC intron_variant ESAD-UK 1 10147023 10147023 single base substitution C T intron_variant ESAD-UK 1 10147895 10147895 single base substitution C A intron_variant ESAD-UK 1 10152301 10152301 single base substitution G C intron_variant ESAD-UK 1 10152904 10152904 single base substitution A T intron_variant ESAD-UK 1 10153409 10153409 single base substitution C G intron_variant ESAD-UK 1 10154747 10154747 single base substitution C A intron_variant ESAD-UK 1 10155592 10155592 single base substitution G A 5_prime_UTR_variant ESAD-UK 1 10155592 10155592 single base substitution G A synonymous_variant T95T 285G>A ESAD-UK 1 10156653 10156653 single base substitution G A intron_variant ESAD-UK 1 10156653 10156653 single base substitution G A upstream_gene_variant ESAD-UK 1 10157107 10157107 single base substitution A T intron_variant ESAD-UK 1 10157107 10157107 single base substitution A T upstream_gene_variant ESAD-UK 1 10157499 10157499 single base substitution T C intron_variant ESAD-UK 1 10157499 10157499 single base substitution T C upstream_gene_variant ESAD-UK 1 10161121 10161121 single base substitution G A exon_variant ESAD-UK 1 10161121 10161121 single base substitution G A intron_variant ESAD-UK 1 10161424 10161424 single base substitution A T intron_variant ESAD-UK 1 10162374 10162374 single base substitution G T intron_variant ESAD-UK 1 10162936 10162936 single base substitution G A intron_variant ESAD-UK 1 10162936 10162936 single base substitution G A upstream_gene_variant ESAD-UK 1 10165900 10165900 single base substitution A G downstream_gene_variant ESAD-UK 1 10165900 10165900 single base substitution A G intron_variant ESAD-UK 1 10165900 10165900 single base substitution A G upstream_gene_variant ESAD-UK 1 10166911 10166911 single base substitution T G downstream_gene_variant ESAD-UK 1 10166911 10166911 single base substitution T G intron_variant ESAD-UK 1 10166911 10166911 single base substitution T G upstream_gene_variant ESAD-UK 1 10167349 10167349 single base substitution A T downstream_gene_variant ESAD-UK 1 10167349 10167349 single base substitution A T intron_variant ESAD-UK 1 10167349 10167349 single base substitution A T upstream_gene_variant ESAD-UK 1 10170923 10170923 single base substitution C G intron_variant ESAD-UK 1 10171781 10171781 single base substitution G A intron_variant ESAD-UK 1 10182631 10182631 single base substitution C T intron_variant ESAD-UK 1 10183836 10183836 insertion of <=200bp - TGTTC intron_variant ESAD-UK 1 10183836 10183836 insertion of <=200bp - TGTTC upstream_gene_variant ESAD-UK 1 10183917 10183917 single base substitution C T intron_variant ESAD-UK 1 10183917 10183917 single base substitution C T upstream_gene_variant ESAD-UK 1 10186129 10186129 single base substitution C T intron_variant ESAD-UK 1 10186129 10186129 single base substitution C T upstream_gene_variant ESAD-UK 1 10189990 10189990 single base substitution G A intron_variant ESAD-UK 1 10193335 10193335 single base substitution C T downstream_gene_variant ESAD-UK 1 10193335 10193335 single base substitution C T intron_variant ESAD-UK 1 10193462 10193462 single base substitution G A downstream_gene_variant ESAD-UK 1 10193462 10193462 single base substitution G A intron_variant ESAD-UK 1 10196421 10196421 single base substitution A C downstream_gene_variant ESAD-UK 1 10196421 10196421 single base substitution A C intron_variant ESAD-UK 1 10196732 10196732 single base substitution C T downstream_gene_variant ESAD-UK 1 10196732 10196732 single base substitution C T intron_variant ESAD-UK 1 10197801 10197801 single base substitution C G intron_variant ESAD-UK 1 10200086 10200086 single base substitution A T intron_variant ESAD-UK 1 10201823 10201823 single base substitution G A intron_variant ESAD-UK 1 10201890 10201890 single base substitution G T intron_variant ESAD-UK 1 10202423 10202423 single base substitution T C intron_variant ESAD-UK 1 10202586 10202586 single base substitution G A intron_variant ESAD-UK 1 10203700 10203700 single base substitution C T intron_variant ESAD-UK 1 10204447 10204447 single base substitution A G intron_variant ESAD-UK 1 10212627 10212627 single base substitution G T intron_variant ESAD-UK 1 10212889 10212889 single base substitution A C intron_variant ESAD-UK 1 10213022 10213022 single base substitution C A intron_variant ESAD-UK 1 10214443 10214443 single base substitution A T intron_variant ESAD-UK 1 10214443 10214443 single base substitution A T upstream_gene_variant ESAD-UK 1 10214445 10214445 single base substitution A G intron_variant ESAD-UK 1 10214445 10214445 single base substitution A G upstream_gene_variant ESAD-UK 1 10217768 10217768 single base substitution G C intron_variant ESAD-UK 1 10217768 10217768 single base substitution G C upstream_gene_variant ESAD-UK 1 10218555 10218555 single base substitution C T intron_variant ESAD-UK 1 10219416 10219416 single base substitution G C intron_variant ESAD-UK 1 10219497 10219497 single base substitution G A intron_variant ESAD-UK 1 10220493 10220493 single base substitution G C intron_variant ESAD-UK 1 10226026 10226026 single base substitution C T intron_variant ESAD-UK 1 10226026 10226026 single base substitution C T upstream_gene_variant ESAD-UK 1 10226665 10226665 single base substitution G A intron_variant ESAD-UK 1 10226665 10226665 single base substitution G A upstream_gene_variant ESAD-UK 1 10227032 10227032 single base substitution A C intron_variant ESAD-UK 1 10227032 10227032 single base substitution A C upstream_gene_variant ESAD-UK 1 10227839 10227839 single base substitution C T intron_variant ESAD-UK 1 10227839 10227839 single base substitution C T upstream_gene_variant ESAD-UK 1 10228459 10228459 single base substitution C T intron_variant ESAD-UK 1 10228459 10228459 single base substitution C T upstream_gene_variant ESAD-UK 1 10228653 10228653 single base substitution T C intron_variant ESAD-UK 1 10228653 10228653 single base substitution T C upstream_gene_variant ESAD-UK 1 10234744 10234744 single base substitution G C downstream_gene_variant ESAD-UK 1 10234744 10234744 single base substitution G C intron_variant ESAD-UK 1 10234744 10234744 single base substitution G C upstream_gene_variant ESAD-UK 1 10238357 10238357 single base substitution C G intron_variant ESAD-UK 1 10238357 10238357 single base substitution C G upstream_gene_variant ESAD-UK 1 10240614 10240614 single base substitution A T 3_prime_UTR_variant ESAD-UK 1 10240614 10240614 single base substitution A T downstream_gene_variant ESAD-UK 1 10241740 10241740 single base substitution G A downstream_gene_variant ESAD-UK 1 10244497 10244497 single base substitution G A downstream_gene_variant ESAD-UK 1 10244992 10244992 single base substitution A G downstream_gene_variant ESAD-UK 1 10245566 10245566 single base substitution C T downstream_gene_variant ESCA-CN 1 10132129 10132129 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant ESCA-CN 1 10132129 10132129 single base substitution C G missense_variant S23C 68C>G ESCA-CN 1 10132131 10132131 single base substitution C T 5_prime_UTR_variant ESCA-CN 1 10132131 10132131 single base substitution C T stop_gained Q24* 70C>T GBM-US 1 10192468 10192468 single base substitution C G exon_variant GBM-US 1 10192468 10192468 single base substitution C G synonymous_variant G105G 315C>G GBM-US 1 10192468 10192468 single base substitution C G synonymous_variant G406G 1218C>G GBM-US 1 10192468 10192468 single base substitution C G synonymous_variant G522G 1566C>G GBM-US 1 10192468 10192468 single base substitution C G synonymous_variant G651G 1953C>G GBM-US 1 10221285 10221285 single base substitution C T exon_variant GBM-US 1 10221285 10221285 single base substitution C T stop_gained R1047* 3139C>T GBM-US 1 10221285 10221285 single base substitution C T stop_gained R802* 2404C>T GBM-US 1 10221285 10221285 single base substitution C T stop_gained R918* 2752C>T KIRC-US 1 10163026 10163026 single base substitution A T exon_variant KIRC-US 1 10163026 10163026 single base substitution A T missense_variant E152D 456A>T KIRC-US 1 10163026 10163026 single base substitution A T missense_variant E36D 108A>T KIRC-US 1 10163026 10163026 single base substitution A T upstream_gene_variant KIRC-US 1 10163061 10163061 single base substitution A C exon_variant KIRC-US 1 10163061 10163061 single base substitution A C missense_variant K164T 491A>C KIRC-US 1 10163061 10163061 single base substitution A C missense_variant K48T 143A>C KIRC-US 1 10163061 10163061 single base substitution A C upstream_gene_variant KIRC-US 1 10166557 10166557 single base substitution G A downstream_gene_variant KIRC-US 1 10166557 10166557 single base substitution G A intron_variant KIRC-US 1 10166557 10166557 single base substitution G A missense_variant R371K 1112G>A KIRC-US 1 10166557 10166557 single base substitution G A upstream_gene_variant KIRC-US 1 10221342 10221342 single base substitution C T missense_variant R1066W 3196C>T KIRC-US 1 10221342 10221342 single base substitution C T missense_variant R821W 2461C>T KIRC-US 1 10221342 10221342 single base substitution C T missense_variant R937W 2809C>T KIRC-US 1 10221342 10221342 single base substitution C T splice_region_variant KIRP-US 1 10177626 10177626 single base substitution C A exon_variant KIRP-US 1 10177626 10177626 single base substitution C A synonymous_variant R191R 571C>A KIRP-US 1 10177626 10177626 single base substitution C A synonymous_variant R307R 919C>A KIRP-US 1 10177626 10177626 single base substitution C A synonymous_variant R436R 1306C>A KIRP-US 1 10177626 10177626 single base substitution C A upstream_gene_variant LAML-KR 1 10095743 10095743 single base substitution C T intron_variant LAML-KR 1 10101954 10101954 single base substitution T A intron_variant LAML-KR 1 10128168 10128168 single base substitution C G intron_variant LAML-KR 1 10133964 10133964 single base substitution A C downstream_gene_variant LAML-KR 1 10133964 10133964 single base substitution A C intron_variant LAML-KR 1 10154577 10154577 single base substitution C T intron_variant LAML-KR 1 10240094 10240094 single base substitution C T 3_prime_UTR_variant LAML-KR 1 10240094 10240094 single base substitution C T downstream_gene_variant LGG-US 1 10182079 10182079 single base substitution G A exon_variant LGG-US 1 10182079 10182079 single base substitution G A missense_variant G255D 764G>A LGG-US 1 10182079 10182079 single base substitution G A missense_variant G371D 1112G>A LGG-US 1 10182079 10182079 single base substitution G A missense_variant G500D 1499G>A LGG-US 1 10182079 10182079 single base substitution G A upstream_gene_variant LICA-CN 1 10163153 10163153 single base substitution A T exon_variant LICA-CN 1 10163153 10163153 single base substitution A T splice_region_variant LICA-CN 1 10163153 10163153 single base substitution A T upstream_gene_variant LICA-FR 1 10099741 10099741 single base substitution A C intron_variant LICA-FR 1 10125287 10125287 single base substitution A G intron_variant LICA-FR 1 10128088 10128088 deletion of <=200bp T - intron_variant LICA-FR 1 10135939 10135939 single base substitution G A downstream_gene_variant LICA-FR 1 10135939 10135939 single base substitution G A intron_variant LICA-FR 1 10154494 10154494 deletion of <=200bp T - intron_variant LICA-FR 1 10160015 10160015 single base substitution G A intron_variant LICA-FR 1 10160015 10160015 single base substitution G A upstream_gene_variant LICA-FR 1 10171103 10171103 insertion of <=200bp - AC intron_variant LICA-FR 1 10202103 10202103 insertion of <=200bp - TT intron_variant LICA-FR 1 10206868 10206868 single base substitution A G downstream_gene_variant LICA-FR 1 10206868 10206868 single base substitution A G intron_variant LICA-FR 1 10212318 10212318 insertion of <=200bp - AAT intron_variant LICA-FR 1 10229689 10229689 single base substitution T G intron_variant LICA-FR 1 10229689 10229689 single base substitution T G upstream_gene_variant LICA-FR 1 10231254 10231254 single base substitution C T downstream_gene_variant LICA-FR 1 10231254 10231254 single base substitution C T exon_variant LICA-FR 1 10231254 10231254 single base substitution C T missense_variant P1002L 3005C>T LICA-FR 1 10231254 10231254 single base substitution C T missense_variant P1131L 3392C>T LICA-FR 1 10231254 10231254 single base substitution C T missense_variant P886L 2657C>T LIHC-US 1 10221232 10221232 single base substitution T C exon_variant LIHC-US 1 10221232 10221232 single base substitution T C missense_variant M1029T 3086T>C LIHC-US 1 10221232 10221232 single base substitution T C missense_variant M784T 2351T>C LIHC-US 1 10221232 10221232 single base substitution T C missense_variant M900T 2699T>C LIHM-FR 1 10238837 10238837 single base substitution G A exon_variant LIHM-FR 1 10238837 10238837 single base substitution G A missense_variant A1092T 3274G>A LIHM-FR 1 10238837 10238837 single base substitution G A missense_variant A1221T 3661G>A LIHM-FR 1 10238837 10238837 single base substitution G A missense_variant A976T 2926G>A LIHM-FR 1 10238837 10238837 single base substitution G A upstream_gene_variant LINC-JP 1 10088356 10088356 single base substitution A G upstream_gene_variant LINC-JP 1 10097641 10097641 single base substitution G A intron_variant LINC-JP 1 10101250 10101250 single base substitution T C intron_variant LINC-JP 1 10109680 10109680 single base substitution T G intron_variant LINC-JP 1 10111394 10111394 single base substitution C A intron_variant LINC-JP 1 10147661 10147661 single base substitution G T intron_variant LINC-JP 1 10154463 10154463 single base substitution G A intron_variant LINC-JP 1 10163051 10163051 single base substitution C T exon_variant LINC-JP 1 10163051 10163051 single base substitution C T synonymous_variant L161L 481C>T LINC-JP 1 10163051 10163051 single base substitution C T synonymous_variant L45L 133C>T LINC-JP 1 10163051 10163051 single base substitution C T upstream_gene_variant LINC-JP 1 10163099 10163099 single base substitution G A exon_variant LINC-JP 1 10163099 10163099 single base substitution G A missense_variant V177I 529G>A LINC-JP 1 10163099 10163099 single base substitution G A missense_variant V61I 181G>A LINC-JP 1 10163099 10163099 single base substitution G A upstream_gene_variant LINC-JP 1 10175209 10175209 single base substitution C A intron_variant LINC-JP 1 10186771 10186771 single base substitution G T intron_variant LINC-JP 1 10186771 10186771 single base substitution G T upstream_gene_variant LINC-JP 1 10187003 10187003 single base substitution A G intron_variant LINC-JP 1 10187003 10187003 single base substitution A G upstream_gene_variant LINC-JP 1 10197044 10197044 single base substitution A C downstream_gene_variant LINC-JP 1 10197044 10197044 single base substitution A C intron_variant LINC-JP 1 10197088 10197088 single base substitution A G downstream_gene_variant LINC-JP 1 10197088 10197088 single base substitution A G intron_variant LINC-JP 1 10206993 10206993 single base substitution T G downstream_gene_variant LINC-JP 1 10206993 10206993 single base substitution T G intron_variant LINC-JP 1 10218123 10218123 single base substitution A G intron_variant LINC-JP 1 10218123 10218123 single base substitution A G upstream_gene_variant LINC-JP 1 10218652 10218652 single base substitution A T intron_variant LINC-JP 1 10223300 10223300 single base substitution T A intron_variant LINC-JP 1 10240826 10240826 insertion of <=200bp - A 3_prime_UTR_variant LINC-JP 1 10240826 10240826 insertion of <=200bp - A downstream_gene_variant LIRI-JP 1 10094771 10094771 single base substitution C G intron_variant LIRI-JP 1 10095338 10095338 single base substitution A G intron_variant LIRI-JP 1 10098279 10098279 single base substitution A T intron_variant LIRI-JP 1 10098874 10098874 single base substitution G T intron_variant LIRI-JP 1 10099263 10099263 single base substitution A G intron_variant LIRI-JP 1 10100891 10100891 single base substitution G T intron_variant LIRI-JP 1 10101123 10101123 single base substitution G T intron_variant LIRI-JP 1 10102477 10102477 single base substitution C T intron_variant LIRI-JP 1 10104389 10104389 single base substitution A T intron_variant LIRI-JP 1 10105667 10105667 single base substitution C T intron_variant LIRI-JP 1 10107202 10107202 single base substitution T G intron_variant LIRI-JP 1 10107253 10107253 single base substitution A T intron_variant LIRI-JP 1 10108790 10108790 single base substitution A T intron_variant LIRI-JP 1 10110422 10110422 single base substitution G A intron_variant LIRI-JP 1 10111936 10111937 deletion of <=200bp AA - intron_variant LIRI-JP 1 10112221 10112221 single base substitution T G intron_variant LIRI-JP 1 10112457 10112457 single base substitution T G intron_variant LIRI-JP 1 10112799 10112799 single base substitution T C intron_variant LIRI-JP 1 10114421 10114421 single base substitution C T intron_variant LIRI-JP 1 10123347 10123347 single base substitution A T intron_variant LIRI-JP 1 10125298 10125298 single base substitution G A intron_variant LIRI-JP 1 10125550 10125550 single base substitution G C intron_variant LIRI-JP 1 10126258 10126258 single base substitution A G intron_variant LIRI-JP 1 10129821 10129821 single base substitution G A intron_variant LIRI-JP 1 10131224 10131224 single base substitution G T intron_variant LIRI-JP 1 10131327 10131327 single base substitution T C intron_variant LIRI-JP 1 10132117 10132117 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 1 10132117 10132117 single base substitution G T missense_variant G19V 56G>T LIRI-JP 1 10134645 10134645 single base substitution G A downstream_gene_variant LIRI-JP 1 10134645 10134645 single base substitution G A intron_variant LIRI-JP 1 10140100 10140100 single base substitution A C intron_variant LIRI-JP 1 10140681 10140681 single base substitution C T intron_variant LIRI-JP 1 10143115 10143115 single base substitution A G intron_variant LIRI-JP 1 10146362 10146362 single base substitution C T intron_variant LIRI-JP 1 10147728 10147728 single base substitution G T intron_variant LIRI-JP 1 10149074 10149074 single base substitution T C intron_variant LIRI-JP 1 10151161 10151161 single base substitution T G intron_variant LIRI-JP 1 10151826 10151826 single base substitution G C intron_variant LIRI-JP 1 10152843 10152843 single base substitution G T intron_variant LIRI-JP 1 10153508 10153508 single base substitution A C intron_variant LIRI-JP 1 10154722 10154722 single base substitution G A intron_variant LIRI-JP 1 10155484 10155484 single base substitution C T intron_variant LIRI-JP 1 10156846 10156846 single base substitution C T intron_variant LIRI-JP 1 10156846 10156846 single base substitution C T upstream_gene_variant LIRI-JP 1 10158261 10158261 single base substitution T C intron_variant LIRI-JP 1 10158261 10158261 single base substitution T C upstream_gene_variant LIRI-JP 1 10162067 10162067 single base substitution A G intron_variant LIRI-JP 1 10162400 10162400 single base substitution A G intron_variant LIRI-JP 1 10162400 10162400 single base substitution A G upstream_gene_variant LIRI-JP 1 10163384 10163384 deletion of <=200bp T - downstream_gene_variant LIRI-JP 1 10163384 10163384 deletion of <=200bp T - intron_variant LIRI-JP 1 10163384 10163384 deletion of <=200bp T - upstream_gene_variant LIRI-JP 1 10165804 10165804 single base substitution T C downstream_gene_variant LIRI-JP 1 10165804 10165804 single base substitution T C splice_donor_variant LIRI-JP 1 10165804 10165804 single base substitution T C upstream_gene_variant LIRI-JP 1 10166053 10166053 single base substitution C T downstream_gene_variant LIRI-JP 1 10166053 10166053 single base substitution C T intron_variant LIRI-JP 1 10166053 10166053 single base substitution C T upstream_gene_variant LIRI-JP 1 10166684 10166684 single base substitution G C downstream_gene_variant LIRI-JP 1 10166684 10166684 single base substitution G C intron_variant LIRI-JP 1 10166684 10166684 single base substitution G C upstream_gene_variant LIRI-JP 1 10166918 10166918 single base substitution C T downstream_gene_variant LIRI-JP 1 10166918 10166918 single base substitution C T intron_variant LIRI-JP 1 10166918 10166918 single base substitution C T upstream_gene_variant LIRI-JP 1 10168455 10168455 single base substitution T C intron_variant LIRI-JP 1 10170220 10170220 single base substitution A G intron_variant LIRI-JP 1 10170473 10170473 single base substitution T C intron_variant LIRI-JP 1 10173513 10173513 single base substitution T G intron_variant LIRI-JP 1 10175557 10175557 single base substitution A G intron_variant LIRI-JP 1 10175863 10175863 single base substitution C G intron_variant LIRI-JP 1 10177261 10177261 single base substitution T G intron_variant LIRI-JP 1 10177261 10177261 single base substitution T G upstream_gene_variant LIRI-JP 1 10177393 10177393 single base substitution G T intron_variant LIRI-JP 1 10177393 10177393 single base substitution G T upstream_gene_variant LIRI-JP 1 10177762 10177762 single base substitution A T intron_variant LIRI-JP 1 10177762 10177762 single base substitution A T upstream_gene_variant LIRI-JP 1 10179078 10179078 single base substitution C T intron_variant LIRI-JP 1 10179078 10179078 single base substitution C T upstream_gene_variant LIRI-JP 1 10179794 10179794 single base substitution A G intron_variant LIRI-JP 1 10179794 10179794 single base substitution A G upstream_gene_variant LIRI-JP 1 10187194 10187194 single base substitution C T intron_variant LIRI-JP 1 10187194 10187194 single base substitution C T upstream_gene_variant LIRI-JP 1 10189206 10189206 single base substitution G A exon_variant LIRI-JP 1 10189206 10189206 single base substitution G A intron_variant LIRI-JP 1 10191299 10191299 single base substitution C T intron_variant LIRI-JP 1 10191557 10191577 deletion of <=200bp GGCAAAGAAGTTACAGGCTTG - intron_variant LIRI-JP 1 10192325 10192325 single base substitution G A intron_variant LIRI-JP 1 10192327 10192327 single base substitution G A intron_variant LIRI-JP 1 10193457 10193457 single base substitution A G downstream_gene_variant LIRI-JP 1 10193457 10193457 single base substitution A G intron_variant LIRI-JP 1 10194152 10194152 single base substitution A G downstream_gene_variant LIRI-JP 1 10194152 10194152 single base substitution A G intron_variant LIRI-JP 1 10194210 10194210 single base substitution C T downstream_gene_variant LIRI-JP 1 10194210 10194210 single base substitution C T intron_variant LIRI-JP 1 10194427 10194427 single base substitution G T downstream_gene_variant LIRI-JP 1 10194427 10194427 single base substitution G T intron_variant LIRI-JP 1 10194493 10194493 single base substitution C A downstream_gene_variant LIRI-JP 1 10194493 10194493 single base substitution C A intron_variant LIRI-JP 1 10198656 10198656 single base substitution A G intron_variant LIRI-JP 1 10199582 10199582 single base substitution G T intron_variant LIRI-JP 1 10199991 10199991 single base substitution G T intron_variant LIRI-JP 1 10200216 10200216 single base substitution A G intron_variant LIRI-JP 1 10200265 10200265 single base substitution T A intron_variant LIRI-JP 1 10205078 10205078 single base substitution G T exon_variant LIRI-JP 1 10205078 10205078 single base substitution G T missense_variant R269L 806G>T LIRI-JP 1 10205078 10205078 single base substitution G T missense_variant R570L 1709G>T LIRI-JP 1 10205078 10205078 single base substitution G T missense_variant R686L 2057G>T LIRI-JP 1 10205078 10205078 single base substitution G T missense_variant R815L 2444G>T LIRI-JP 1 10206556 10206556 single base substitution A T downstream_gene_variant LIRI-JP 1 10206556 10206556 single base substitution A T intron_variant LIRI-JP 1 10207712 10207712 single base substitution A G downstream_gene_variant LIRI-JP 1 10207712 10207712 single base substitution A G intron_variant LIRI-JP 1 10209757 10209757 single base substitution A G downstream_gene_variant LIRI-JP 1 10209757 10209757 single base substitution A G intron_variant LIRI-JP 1 10210445 10210445 single base substitution A G downstream_gene_variant LIRI-JP 1 10210445 10210445 single base substitution A G intron_variant LIRI-JP 1 10212516 10212516 single base substitution C T intron_variant LIRI-JP 1 10214376 10214376 single base substitution T A intron_variant LIRI-JP 1 10214376 10214376 single base substitution T A upstream_gene_variant LIRI-JP 1 10215819 10215819 single base substitution G A intron_variant LIRI-JP 1 10215819 10215819 single base substitution G A upstream_gene_variant LIRI-JP 1 10216492 10216492 single base substitution T G intron_variant LIRI-JP 1 10216492 10216492 single base substitution T G upstream_gene_variant LIRI-JP 1 10216956 10216956 single base substitution G A intron_variant LIRI-JP 1 10216956 10216956 single base substitution G A upstream_gene_variant LIRI-JP 1 10217937 10217937 single base substitution A G intron_variant LIRI-JP 1 10217937 10217937 single base substitution A G upstream_gene_variant LIRI-JP 1 10218335 10218335 single base substitution G C intron_variant LIRI-JP 1 10218335 10218335 single base substitution G C upstream_gene_variant LIRI-JP 1 10219314 10219314 single base substitution A G intron_variant LIRI-JP 1 10220199 10220199 single base substitution G T intron_variant LIRI-JP 1 10222838 10222838 single base substitution C A intron_variant LIRI-JP 1 10223316 10223316 single base substitution A G intron_variant LIRI-JP 1 10224476 10224476 single base substitution A G intron_variant LIRI-JP 1 10224493 10224493 single base substitution A G intron_variant LIRI-JP 1 10227051 10227051 single base substitution A T intron_variant LIRI-JP 1 10227051 10227051 single base substitution A T upstream_gene_variant LIRI-JP 1 10227131 10227131 single base substitution A T intron_variant LIRI-JP 1 10227131 10227131 single base substitution A T upstream_gene_variant LIRI-JP 1 10227204 10227204 single base substitution A G intron_variant LIRI-JP 1 10227204 10227204 single base substitution A G upstream_gene_variant LIRI-JP 1 10228663 10228663 single base substitution A G intron_variant LIRI-JP 1 10228663 10228663 single base substitution A G upstream_gene_variant LIRI-JP 1 10229005 10229005 single base substitution A G intron_variant LIRI-JP 1 10229005 10229005 single base substitution A G upstream_gene_variant LIRI-JP 1 10229349 10229349 single base substitution A G intron_variant LIRI-JP 1 10229349 10229349 single base substitution A G upstream_gene_variant LIRI-JP 1 10230062 10230062 single base substitution T G intron_variant LIRI-JP 1 10230062 10230062 single base substitution T G upstream_gene_variant LIRI-JP 1 10230379 10230379 single base substitution C A intron_variant LIRI-JP 1 10230379 10230379 single base substitution C A upstream_gene_variant LIRI-JP 1 10232097 10232097 single base substitution A G downstream_gene_variant LIRI-JP 1 10232097 10232097 single base substitution A G intron_variant LIRI-JP 1 10233976 10233976 single base substitution G A downstream_gene_variant LIRI-JP 1 10233976 10233976 single base substitution G A intron_variant LIRI-JP 1 10234054 10234054 single base substitution C T downstream_gene_variant LIRI-JP 1 10234054 10234054 single base substitution C T intron_variant LIRI-JP 1 10236199 10236199 single base substitution G T downstream_gene_variant LIRI-JP 1 10236199 10236199 single base substitution G T intron_variant LIRI-JP 1 10236199 10236199 single base substitution G T upstream_gene_variant LIRI-JP 1 10240324 10240324 single base substitution C T 3_prime_UTR_variant LIRI-JP 1 10240324 10240324 single base substitution C T downstream_gene_variant LIRI-JP 1 10240398 10240398 single base substitution A G 3_prime_UTR_variant LIRI-JP 1 10240398 10240398 single base substitution A G downstream_gene_variant LIRI-JP 1 10243327 10243327 single base substitution C T downstream_gene_variant LIRI-JP 1 10244071 10244071 single base substitution A T downstream_gene_variant LUSC-KR 1 10105572 10105572 single base substitution G T intron_variant LUSC-KR 1 10114329 10114329 single base substitution C G intron_variant LUSC-KR 1 10117029 10117029 single base substitution A C intron_variant LUSC-KR 1 10117503 10117503 single base substitution G A intron_variant LUSC-KR 1 10130872 10130872 single base substitution A G intron_variant LUSC-KR 1 10137111 10137111 single base substitution G T downstream_gene_variant LUSC-KR 1 10137111 10137111 single base substitution G T intron_variant LUSC-KR 1 10142541 10142541 single base substitution G A intron_variant LUSC-KR 1 10146399 10146399 single base substitution C G intron_variant LUSC-KR 1 10149874 10149874 single base substitution C T intron_variant LUSC-KR 1 10152107 10152107 single base substitution C G intron_variant LUSC-KR 1 10153385 10153385 single base substitution C T intron_variant LUSC-KR 1 10156884 10156884 single base substitution G T intron_variant LUSC-KR 1 10156884 10156884 single base substitution G T upstream_gene_variant LUSC-KR 1 10159791 10159791 single base substitution A G intron_variant LUSC-KR 1 10159791 10159791 single base substitution A G upstream_gene_variant LUSC-KR 1 10160902 10160902 single base substitution G A intron_variant LUSC-KR 1 10160902 10160902 single base substitution G A upstream_gene_variant LUSC-KR 1 10163708 10163708 single base substitution G T downstream_gene_variant LUSC-KR 1 10163708 10163708 single base substitution G T intron_variant LUSC-KR 1 10163708 10163708 single base substitution G T upstream_gene_variant LUSC-KR 1 10165568 10165568 single base substitution C T downstream_gene_variant LUSC-KR 1 10165568 10165568 single base substitution C T splice_region_variant LUSC-KR 1 10165568 10165568 single base substitution C T upstream_gene_variant LUSC-KR 1 10168141 10168141 single base substitution C G downstream_gene_variant LUSC-KR 1 10168141 10168141 single base substitution C G intron_variant LUSC-KR 1 10176913 10176913 single base substitution C G intron_variant LUSC-KR 1 10177442 10177442 single base substitution C T intron_variant LUSC-KR 1 10177442 10177442 single base substitution C T upstream_gene_variant LUSC-KR 1 10177945 10177945 single base substitution C T intron_variant LUSC-KR 1 10177945 10177945 single base substitution C T upstream_gene_variant LUSC-KR 1 10185802 10185802 single base substitution T A intron_variant LUSC-KR 1 10185802 10185802 single base substitution T A upstream_gene_variant LUSC-KR 1 10187281 10187281 single base substitution A G intron_variant LUSC-KR 1 10187281 10187281 single base substitution A G upstream_gene_variant LUSC-KR 1 10190575 10190575 single base substitution G C exon_variant LUSC-KR 1 10190575 10190575 single base substitution G C intron_variant LUSC-KR 1 10190575 10190575 single base substitution G C missense_variant L326F 978G>C LUSC-KR 1 10190575 10190575 single base substitution G C missense_variant L442F 1326G>C LUSC-KR 1 10190575 10190575 single base substitution G C missense_variant L571F 1713G>C LUSC-KR 1 10190884 10190884 single base substitution A T intron_variant LUSC-KR 1 10195393 10195393 single base substitution G T downstream_gene_variant LUSC-KR 1 10195393 10195393 single base substitution G T intron_variant LUSC-KR 1 10195979 10195979 single base substitution T C downstream_gene_variant LUSC-KR 1 10195979 10195979 single base substitution T C intron_variant LUSC-KR 1 10200971 10200971 single base substitution G T intron_variant LUSC-KR 1 10206661 10206661 single base substitution C A downstream_gene_variant LUSC-KR 1 10206661 10206661 single base substitution C A intron_variant LUSC-KR 1 10208689 10208689 single base substitution C A downstream_gene_variant LUSC-KR 1 10208689 10208689 single base substitution C A intron_variant LUSC-KR 1 10214415 10214415 single base substitution G T intron_variant LUSC-KR 1 10214415 10214415 single base substitution G T upstream_gene_variant LUSC-KR 1 10218377 10218377 single base substitution A G intron_variant LUSC-KR 1 10218377 10218377 single base substitution A G upstream_gene_variant LUSC-KR 1 10218439 10218439 single base substitution T C exon_variant LUSC-KR 1 10218439 10218439 single base substitution T C synonymous_variant S739S 2217T>C LUSC-KR 1 10218439 10218439 single base substitution T C synonymous_variant S855S 2565T>C LUSC-KR 1 10218439 10218439 single base substitution T C synonymous_variant S984S 2952T>C LUSC-KR 1 10220061 10220061 single base substitution C G intron_variant LUSC-KR 1 10221093 10221093 single base substitution G A intron_variant LUSC-KR 1 10231463 10231463 single base substitution C T downstream_gene_variant LUSC-KR 1 10231463 10231463 single base substitution C T intron_variant LUSC-KR 1 10236772 10236772 single base substitution C G intron_variant LUSC-KR 1 10236772 10236772 single base substitution C G upstream_gene_variant LUSC-KR 1 10237183 10237183 single base substitution C G intron_variant LUSC-KR 1 10237183 10237183 single base substitution C G upstream_gene_variant LUSC-KR 1 10237509 10237509 single base substitution C G intron_variant LUSC-KR 1 10237509 10237509 single base substitution C G upstream_gene_variant LUSC-KR 1 10238018 10238018 single base substitution C G intron_variant LUSC-KR 1 10238018 10238018 single base substitution C G upstream_gene_variant LUSC-KR 1 10238033 10238033 single base substitution C T intron_variant LUSC-KR 1 10238033 10238033 single base substitution C T upstream_gene_variant LUSC-KR 1 10239647 10239647 single base substitution A G intron_variant LUSC-KR 1 10240094 10240094 single base substitution C T 3_prime_UTR_variant LUSC-KR 1 10240094 10240094 single base substitution C T downstream_gene_variant LUSC-KR 1 10243465 10243465 single base substitution C G downstream_gene_variant LUSC-US 1 10165736 10165736 single base substitution G A downstream_gene_variant LUSC-US 1 10165736 10165736 single base substitution G A missense_variant G132D 395G>A LUSC-US 1 10165736 10165736 single base substitution G A missense_variant G248D 743G>A LUSC-US 1 10165736 10165736 single base substitution G A upstream_gene_variant LUSC-US 1 10207138 10207138 single base substitution G A downstream_gene_variant LUSC-US 1 10207138 10207138 single base substitution G A missense_variant A616T 1846G>A LUSC-US 1 10207138 10207138 single base substitution G A missense_variant A732T 2194G>A LUSC-US 1 10207138 10207138 single base substitution G A missense_variant A861T 2581G>A LUSC-US 1 10228233 10228233 single base substitution G A 3_prime_UTR_variant LUSC-US 1 10228233 10228233 single base substitution G A missense_variant E1080K 3238G>A LUSC-US 1 10228233 10228233 single base substitution G A missense_variant E835K 2503G>A LUSC-US 1 10228233 10228233 single base substitution G A missense_variant E951K 2851G>A LUSC-US 1 10228233 10228233 single base substitution G A upstream_gene_variant MALY-DE 1 10090033 10090033 single base substitution C T upstream_gene_variant MALY-DE 1 10091217 10091217 single base substitution C T upstream_gene_variant MALY-DE 1 10103590 10103590 single base substitution T G intron_variant MALY-DE 1 10108172 10108172 single base substitution C T intron_variant MALY-DE 1 10109658 10109658 single base substitution T A intron_variant MALY-DE 1 10109959 10109959 single base substitution A T intron_variant MALY-DE 1 10128965 10128965 single base substitution T C intron_variant MALY-DE 1 10145363 10145363 single base substitution T G intron_variant MALY-DE 1 10147521 10147522 deletion of <=200bp TC - intron_variant MALY-DE 1 10150852 10150853 deletion of <=200bp TG - intron_variant MALY-DE 1 10156123 10156123 single base substitution G A intron_variant MALY-DE 1 10156123 10156123 single base substitution G A upstream_gene_variant MALY-DE 1 10162035 10162036 deletion of <=200bp GT - intron_variant MALY-DE 1 10168205 10168206 deletion of <=200bp GT - downstream_gene_variant MALY-DE 1 10168205 10168206 deletion of <=200bp GT - intron_variant MALY-DE 1 10171272 10171273 deletion of <=200bp AC - intron_variant MALY-DE 1 10175202 10175202 single base substitution T C intron_variant MALY-DE 1 10176883 10176883 single base substitution G A intron_variant MALY-DE 1 10184752 10184752 single base substitution A C intron_variant MALY-DE 1 10184752 10184752 single base substitution A C upstream_gene_variant MALY-DE 1 10193196 10193196 single base substitution C T downstream_gene_variant MALY-DE 1 10193196 10193196 single base substitution C T intron_variant MALY-DE 1 10202813 10202813 single base substitution G A intron_variant MALY-DE 1 10206656 10206656 single base substitution C T downstream_gene_variant MALY-DE 1 10206656 10206656 single base substitution C T intron_variant MALY-DE 1 10214918 10214918 single base substitution A G intron_variant MALY-DE 1 10214918 10214918 single base substitution A G upstream_gene_variant MALY-DE 1 10215143 10215144 deletion of <=200bp GT - intron_variant MALY-DE 1 10215143 10215144 deletion of <=200bp GT - upstream_gene_variant MALY-DE 1 10217400 10217400 single base substitution G A intron_variant MALY-DE 1 10217400 10217400 single base substitution G A upstream_gene_variant MALY-DE 1 10227030 10227030 single base substitution A C intron_variant MALY-DE 1 10227030 10227030 single base substitution A C upstream_gene_variant MALY-DE 1 10245477 10245477 single base substitution C T downstream_gene_variant MELA-AU 1 10088976 10088976 single base substitution C T upstream_gene_variant MELA-AU 1 10089309 10089309 single base substitution C T upstream_gene_variant MELA-AU 1 10089329 10089329 single base substitution G A upstream_gene_variant MELA-AU 1 10089637 10089637 single base substitution C T upstream_gene_variant MELA-AU 1 10089675 10089675 single base substitution G A upstream_gene_variant MELA-AU 1 10089868 10089868 single base substitution G A upstream_gene_variant MELA-AU 1 10089874 10089874 single base substitution G A upstream_gene_variant MELA-AU 1 10090026 10090026 single base substitution C T upstream_gene_variant MELA-AU 1 10091160 10091160 single base substitution T G upstream_gene_variant MELA-AU 1 10091363 10091363 single base substitution C T upstream_gene_variant MELA-AU 1 10091398 10091398 single base substitution G A upstream_gene_variant MELA-AU 1 10092031 10092031 single base substitution C T upstream_gene_variant MELA-AU 1 10092719 10092719 single base substitution C T upstream_gene_variant MELA-AU 1 10092720 10092720 single base substitution C T upstream_gene_variant MELA-AU 1 10093576 10093576 single base substitution T G 5_prime_UTR_variant MELA-AU 1 10093576 10093576 single base substitution T G upstream_gene_variant MELA-AU 1 10094105 10094105 single base substitution T C intron_variant MELA-AU 1 10094795 10094795 single base substitution G A intron_variant MELA-AU 1 10095900 10095900 single base substitution C T intron_variant MELA-AU 1 10096121 10096122 multiple base substitution (>=2bp and <=200bp) CC AG intron_variant MELA-AU 1 10097522 10097522 single base substitution G A intron_variant MELA-AU 1 10097590 10097590 single base substitution C T intron_variant MELA-AU 1 10097960 10097960 single base substitution T A intron_variant MELA-AU 1 10098103 10098104 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 10098306 10098306 single base substitution C T intron_variant MELA-AU 1 10098435 10098435 single base substitution A G intron_variant MELA-AU 1 10098688 10098688 single base substitution C T intron_variant MELA-AU 1 10099207 10099207 single base substitution C T intron_variant MELA-AU 1 10100193 10100193 single base substitution C T intron_variant MELA-AU 1 10100213 10100213 single base substitution C T intron_variant MELA-AU 1 10100271 10100271 single base substitution C T intron_variant MELA-AU 1 10100799 10100799 single base substitution C T intron_variant MELA-AU 1 10101483 10101484 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 10101651 10101651 single base substitution C T intron_variant MELA-AU 1 10102075 10102075 single base substitution C T intron_variant MELA-AU 1 10102579 10102579 single base substitution C T intron_variant MELA-AU 1 10103098 10103098 single base substitution T C intron_variant MELA-AU 1 10103818 10103818 single base substitution C T intron_variant MELA-AU 1 10104642 10104642 single base substitution C T intron_variant MELA-AU 1 10104883 10104883 single base substitution C T intron_variant MELA-AU 1 10105318 10105319 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 10106793 10106793 single base substitution C T intron_variant MELA-AU 1 10107053 10107053 single base substitution T C intron_variant MELA-AU 1 10107533 10107533 single base substitution A G intron_variant MELA-AU 1 10107777 10107777 single base substitution C T intron_variant MELA-AU 1 10107807 10107807 single base substitution C T intron_variant MELA-AU 1 10108133 10108133 single base substitution C T intron_variant MELA-AU 1 10109742 10109742 single base substitution T A intron_variant MELA-AU 1 10109831 10109831 single base substitution C T intron_variant MELA-AU 1 10109880 10109880 single base substitution C T intron_variant MELA-AU 1 10109903 10109903 single base substitution C T intron_variant MELA-AU 1 10110592 10110592 single base substitution C T intron_variant MELA-AU 1 10111174 10111174 single base substitution C T intron_variant MELA-AU 1 10112244 10112244 single base substitution C T intron_variant MELA-AU 1 10113330 10113330 single base substitution C T intron_variant MELA-AU 1 10114097 10114097 single base substitution T C intron_variant MELA-AU 1 10114617 10114617 single base substitution C T intron_variant MELA-AU 1 10114812 10114812 single base substitution C T intron_variant MELA-AU 1 10115086 10115086 single base substitution C T intron_variant MELA-AU 1 10116886 10116886 single base substitution T A intron_variant MELA-AU 1 10116967 10116967 single base substitution C A intron_variant MELA-AU 1 10117376 10117376 single base substitution C T intron_variant MELA-AU 1 10118559 10118559 single base substitution C T intron_variant MELA-AU 1 10119462 10119462 single base substitution A C intron_variant MELA-AU 1 10119468 10119468 single base substitution C T intron_variant MELA-AU 1 10119641 10119641 single base substitution C T intron_variant MELA-AU 1 10119876 10119876 single base substitution C T intron_variant MELA-AU 1 10120061 10120061 single base substitution G A intron_variant MELA-AU 1 10120644 10120644 single base substitution C T intron_variant MELA-AU 1 10120795 10120795 single base substitution C T intron_variant MELA-AU 1 10121472 10121473 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 10121745 10121745 single base substitution T C intron_variant MELA-AU 1 10121848 10121848 single base substitution C T intron_variant MELA-AU 1 10122951 10122951 single base substitution T C intron_variant MELA-AU 1 10122991 10122991 single base substitution G A intron_variant MELA-AU 1 10123441 10123441 single base substitution C T intron_variant MELA-AU 1 10124086 10124086 single base substitution C T intron_variant MELA-AU 1 10124463 10124463 single base substitution T C intron_variant MELA-AU 1 10124697 10124697 single base substitution C T intron_variant MELA-AU 1 10124804 10124804 single base substitution C T intron_variant MELA-AU 1 10124932 10124932 single base substitution C T intron_variant MELA-AU 1 10126297 10126297 single base substitution C T intron_variant MELA-AU 1 10126660 10126660 single base substitution C T intron_variant MELA-AU 1 10126688 10126688 single base substitution G A intron_variant MELA-AU 1 10127148 10127149 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 10128027 10128027 single base substitution C T intron_variant MELA-AU 1 10128664 10128664 single base substitution C T intron_variant MELA-AU 1 10128846 10128847 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 10129035 10129035 single base substitution G A intron_variant MELA-AU 1 10129305 10129305 single base substitution C T intron_variant MELA-AU 1 10129336 10129336 single base substitution C T intron_variant MELA-AU 1 10129595 10129595 single base substitution T G intron_variant MELA-AU 1 10129648 10129648 single base substitution A G intron_variant MELA-AU 1 10129854 10129854 single base substitution C T intron_variant MELA-AU 1 10129952 10129952 single base substitution G A intron_variant MELA-AU 1 10130026 10130026 single base substitution A C intron_variant MELA-AU 1 10130316 10130316 single base substitution G A intron_variant MELA-AU 1 10130392 10130392 single base substitution G A intron_variant MELA-AU 1 10130510 10130510 single base substitution A T intron_variant MELA-AU 1 10130531 10130531 single base substitution C T intron_variant MELA-AU 1 10131001 10131001 single base substitution C T intron_variant MELA-AU 1 10132200 10132200 single base substitution C T 5_prime_UTR_variant MELA-AU 1 10132200 10132200 single base substitution C T missense_variant P47S 139C>T MELA-AU 1 10132392 10132392 single base substitution C T intron_variant MELA-AU 1 10132395 10132395 single base substitution C T intron_variant MELA-AU 1 10132527 10132527 single base substitution C T intron_variant MELA-AU 1 10132527 10132527 single base substitution C T missense_variant S76F 227C>T MELA-AU 1 10132537 10132537 single base substitution G A intron_variant MELA-AU 1 10132537 10132537 single base substitution G A synonymous_variant K79K 237G>A MELA-AU 1 10133296 10133296 single base substitution C T downstream_gene_variant MELA-AU 1 10133296 10133296 single base substitution C T intron_variant MELA-AU 1 10134290 10134290 single base substitution C T downstream_gene_variant MELA-AU 1 10134290 10134290 single base substitution C T intron_variant MELA-AU 1 10134686 10134686 insertion of <=200bp - TT downstream_gene_variant MELA-AU 1 10134686 10134686 insertion of <=200bp - TT intron_variant MELA-AU 1 10136116 10136116 single base substitution G A downstream_gene_variant MELA-AU 1 10136116 10136116 single base substitution G A intron_variant MELA-AU 1 10136522 10136522 single base substitution G A downstream_gene_variant MELA-AU 1 10136522 10136522 single base substitution G A intron_variant MELA-AU 1 10136643 10136643 single base substitution C T downstream_gene_variant MELA-AU 1 10136643 10136643 single base substitution C T intron_variant MELA-AU 1 10136880 10136880 single base substitution C G downstream_gene_variant MELA-AU 1 10136880 10136880 single base substitution C G intron_variant MELA-AU 1 10136991 10136991 single base substitution G A downstream_gene_variant MELA-AU 1 10136991 10136991 single base substitution G A intron_variant MELA-AU 1 10137377 10137377 single base substitution C T downstream_gene_variant MELA-AU 1 10137377 10137377 single base substitution C T intron_variant MELA-AU 1 10137600 10137600 single base substitution C T downstream_gene_variant MELA-AU 1 10137600 10137600 single base substitution C T intron_variant MELA-AU 1 10138978 10138978 single base substitution G A intron_variant MELA-AU 1 10139189 10139189 single base substitution C T intron_variant MELA-AU 1 10139191 10139191 single base substitution C T intron_variant MELA-AU 1 10139459 10139459 single base substitution C T intron_variant MELA-AU 1 10139513 10139513 single base substitution C T intron_variant MELA-AU 1 10140392 10140392 single base substitution C T intron_variant MELA-AU 1 10140405 10140405 single base substitution G A intron_variant MELA-AU 1 10141230 10141230 single base substitution C T intron_variant MELA-AU 1 10141461 10141461 single base substitution C T intron_variant MELA-AU 1 10141766 10141766 single base substitution C T intron_variant MELA-AU 1 10142205 10142205 single base substitution C T intron_variant MELA-AU 1 10142833 10142833 single base substitution T G intron_variant MELA-AU 1 10142852 10142852 single base substitution C T intron_variant MELA-AU 1 10143201 10143201 single base substitution C T intron_variant MELA-AU 1 10143256 10143257 multiple base substitution (>=2bp and <=200bp) TC AA intron_variant MELA-AU 1 10143261 10143261 single base substitution A G intron_variant MELA-AU 1 10143444 10143444 single base substitution C T intron_variant MELA-AU 1 10143865 10143865 single base substitution C T intron_variant MELA-AU 1 10144307 10144307 single base substitution C T intron_variant MELA-AU 1 10145347 10145347 single base substitution C T intron_variant MELA-AU 1 10145826 10145826 single base substitution C T intron_variant MELA-AU 1 10146251 10146251 single base substitution G C intron_variant MELA-AU 1 10146534 10146534 single base substitution G A intron_variant MELA-AU 1 10146592 10146592 single base substitution G A intron_variant MELA-AU 1 10147039 10147039 single base substitution C T intron_variant MELA-AU 1 10147616 10147616 single base substitution C T intron_variant MELA-AU 1 10147704 10147704 single base substitution C T intron_variant MELA-AU 1 10147869 10147869 single base substitution C T intron_variant MELA-AU 1 10148071 10148071 single base substitution C T intron_variant MELA-AU 1 10148469 10148469 single base substitution C T intron_variant MELA-AU 1 10148870 10148870 single base substitution G A intron_variant MELA-AU 1 10148982 10148982 single base substitution C T intron_variant MELA-AU 1 10148994 10148994 single base substitution C T intron_variant MELA-AU 1 10149044 10149044 single base substitution T A intron_variant MELA-AU 1 10149159 10149159 single base substitution G A intron_variant MELA-AU 1 10149188 10149188 single base substitution C T intron_variant MELA-AU 1 10149279 10149279 single base substitution G A intron_variant MELA-AU 1 10150300 10150300 single base substitution C T intron_variant MELA-AU 1 10150665 10150665 single base substitution T C intron_variant MELA-AU 1 10150685 10150685 single base substitution A C intron_variant MELA-AU 1 10152324 10152324 single base substitution C T intron_variant MELA-AU 1 10152406 10152406 single base substitution C T intron_variant MELA-AU 1 10153144 10153144 single base substitution C T intron_variant MELA-AU 1 10154001 10154001 single base substitution C T intron_variant MELA-AU 1 10154470 10154470 single base substitution C T intron_variant MELA-AU 1 10155031 10155031 single base substitution T G intron_variant MELA-AU 1 10155036 10155036 single base substitution C T intron_variant MELA-AU 1 10155155 10155155 single base substitution C T intron_variant MELA-AU 1 10155405 10155405 single base substitution T C intron_variant MELA-AU 1 10155714 10155714 single base substitution C T intron_variant MELA-AU 1 10156774 10156774 single base substitution C T intron_variant MELA-AU 1 10156774 10156774 single base substitution C T upstream_gene_variant MELA-AU 1 10157665 10157665 single base substitution C T intron_variant MELA-AU 1 10157665 10157665 single base substitution C T upstream_gene_variant MELA-AU 1 10157933 10157933 single base substitution C T intron_variant MELA-AU 1 10157933 10157933 single base substitution C T upstream_gene_variant MELA-AU 1 10158105 10158105 single base substitution T A intron_variant MELA-AU 1 10158105 10158105 single base substitution T A upstream_gene_variant MELA-AU 1 10158404 10158404 single base substitution C T intron_variant MELA-AU 1 10158404 10158404 single base substitution C T upstream_gene_variant MELA-AU 1 10159645 10159645 single base substitution C T intron_variant MELA-AU 1 10159645 10159645 single base substitution C T upstream_gene_variant MELA-AU 1 10159723 10159723 single base substitution C T intron_variant MELA-AU 1 10159723 10159723 single base substitution C T upstream_gene_variant MELA-AU 1 10160078 10160078 single base substitution C T intron_variant MELA-AU 1 10160078 10160078 single base substitution C T upstream_gene_variant MELA-AU 1 10161058 10161058 single base substitution C T exon_variant MELA-AU 1 10161058 10161058 single base substitution C T intron_variant MELA-AU 1 10161689 10161689 single base substitution C T intron_variant MELA-AU 1 10161808 10161808 single base substitution C T intron_variant MELA-AU 1 10162499 10162499 single base substitution C T intron_variant MELA-AU 1 10162499 10162499 single base substitution C T upstream_gene_variant MELA-AU 1 10162593 10162593 single base substitution C T intron_variant MELA-AU 1 10162593 10162593 single base substitution C T upstream_gene_variant MELA-AU 1 10163115 10163115 single base substitution C T exon_variant MELA-AU 1 10163115 10163115 single base substitution C T missense_variant S182F 545C>T MELA-AU 1 10163115 10163115 single base substitution C T missense_variant S66F 197C>T MELA-AU 1 10163115 10163115 single base substitution C T upstream_gene_variant MELA-AU 1 10163533 10163533 single base substitution C T downstream_gene_variant MELA-AU 1 10163533 10163533 single base substitution C T intron_variant MELA-AU 1 10163533 10163533 single base substitution C T upstream_gene_variant MELA-AU 1 10164303 10164303 single base substitution C T downstream_gene_variant MELA-AU 1 10164303 10164303 single base substitution C T intron_variant MELA-AU 1 10164303 10164303 single base substitution C T upstream_gene_variant MELA-AU 1 10164914 10164914 single base substitution T A downstream_gene_variant MELA-AU 1 10164914 10164914 single base substitution T A intron_variant MELA-AU 1 10164914 10164914 single base substitution T A upstream_gene_variant MELA-AU 1 10165303 10165303 single base substitution C T downstream_gene_variant MELA-AU 1 10165303 10165303 single base substitution C T intron_variant MELA-AU 1 10165303 10165303 single base substitution C T upstream_gene_variant MELA-AU 1 10165346 10165346 single base substitution C T downstream_gene_variant MELA-AU 1 10165346 10165346 single base substitution C T intron_variant MELA-AU 1 10165346 10165346 single base substitution C T upstream_gene_variant MELA-AU 1 10165578 10165578 single base substitution C T downstream_gene_variant MELA-AU 1 10165578 10165578 single base substitution C T synonymous_variant F195F 585C>T MELA-AU 1 10165578 10165578 single base substitution C T synonymous_variant F79F 237C>T MELA-AU 1 10165578 10165578 single base substitution C T upstream_gene_variant MELA-AU 1 10165740 10165740 single base substitution C T downstream_gene_variant MELA-AU 1 10165740 10165740 single base substitution C T synonymous_variant S133S 399C>T MELA-AU 1 10165740 10165740 single base substitution C T synonymous_variant S249S 747C>T MELA-AU 1 10165740 10165740 single base substitution C T upstream_gene_variant MELA-AU 1 10166236 10166236 single base substitution C T downstream_gene_variant MELA-AU 1 10166236 10166236 single base substitution C T intron_variant MELA-AU 1 10166236 10166236 single base substitution C T upstream_gene_variant MELA-AU 1 10166480 10166480 single base substitution C T downstream_gene_variant MELA-AU 1 10166480 10166480 single base substitution C T intron_variant MELA-AU 1 10166480 10166480 single base substitution C T synonymous_variant S345S 1035C>T MELA-AU 1 10166480 10166480 single base substitution C T upstream_gene_variant MELA-AU 1 10166494 10166494 single base substitution C T downstream_gene_variant MELA-AU 1 10166494 10166494 single base substitution C T intron_variant MELA-AU 1 10166494 10166494 single base substitution C T missense_variant S350F 1049C>T MELA-AU 1 10166494 10166494 single base substitution C T upstream_gene_variant MELA-AU 1 10166623 10166623 single base substitution C T downstream_gene_variant MELA-AU 1 10166623 10166623 single base substitution C T intron_variant MELA-AU 1 10166623 10166623 single base substitution C T missense_variant S393F 1178C>T MELA-AU 1 10166623 10166623 single base substitution C T upstream_gene_variant MELA-AU 1 10167991 10167991 single base substitution C T downstream_gene_variant MELA-AU 1 10167991 10167991 single base substitution C T intron_variant MELA-AU 1 10168077 10168077 single base substitution C T downstream_gene_variant MELA-AU 1 10168077 10168077 single base substitution C T intron_variant MELA-AU 1 10168237 10168237 single base substitution C T downstream_gene_variant MELA-AU 1 10168237 10168237 single base substitution C T intron_variant MELA-AU 1 10168411 10168411 single base substitution C T intron_variant MELA-AU 1 10169606 10169607 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 10170015 10170015 single base substitution C T intron_variant MELA-AU 1 10170267 10170267 single base substitution C T intron_variant MELA-AU 1 10170335 10170335 single base substitution T A intron_variant MELA-AU 1 10171450 10171450 single base substitution C T intron_variant MELA-AU 1 10171887 10171887 single base substitution T C intron_variant MELA-AU 1 10171929 10171929 single base substitution C T intron_variant MELA-AU 1 10172580 10172580 single base substitution C G intron_variant MELA-AU 1 10173458 10173458 single base substitution A C intron_variant MELA-AU 1 10174032 10174032 single base substitution A C intron_variant MELA-AU 1 10174434 10174434 single base substitution G A intron_variant MELA-AU 1 10174452 10174452 single base substitution C T intron_variant MELA-AU 1 10175399 10175399 single base substitution C T intron_variant MELA-AU 1 10175623 10175623 single base substitution T C intron_variant MELA-AU 1 10176355 10176355 single base substitution C T intron_variant MELA-AU 1 10176822 10176822 single base substitution C T intron_variant MELA-AU 1 10177133 10177133 single base substitution C T intron_variant MELA-AU 1 10177133 10177133 single base substitution C T upstream_gene_variant MELA-AU 1 10177642 10177642 single base substitution A G exon_variant MELA-AU 1 10177642 10177642 single base substitution A G missense_variant E196G 587A>G MELA-AU 1 10177642 10177642 single base substitution A G missense_variant E312G 935A>G MELA-AU 1 10177642 10177642 single base substitution A G missense_variant E441G 1322A>G MELA-AU 1 10177642 10177642 single base substitution A G upstream_gene_variant MELA-AU 1 10177910 10177910 single base substitution C T intron_variant MELA-AU 1 10177910 10177910 single base substitution C T upstream_gene_variant MELA-AU 1 10179172 10179172 single base substitution C T intron_variant MELA-AU 1 10179172 10179172 single base substitution C T upstream_gene_variant MELA-AU 1 10179449 10179449 single base substitution G A intron_variant MELA-AU 1 10179449 10179449 single base substitution G A upstream_gene_variant MELA-AU 1 10179562 10179562 single base substitution C T intron_variant MELA-AU 1 10179562 10179562 single base substitution C T upstream_gene_variant MELA-AU 1 10180243 10180243 single base substitution C T intron_variant MELA-AU 1 10180243 10180243 single base substitution C T upstream_gene_variant MELA-AU 1 10180990 10180990 single base substitution C T intron_variant MELA-AU 1 10180990 10180990 single base substitution C T upstream_gene_variant MELA-AU 1 10181503 10181503 single base substitution C T intron_variant MELA-AU 1 10181503 10181503 single base substitution C T upstream_gene_variant MELA-AU 1 10181882 10181882 single base substitution C T intron_variant MELA-AU 1 10181882 10181882 single base substitution C T upstream_gene_variant MELA-AU 1 10181918 10181918 single base substitution C T intron_variant MELA-AU 1 10181918 10181918 single base substitution C T upstream_gene_variant MELA-AU 1 10182227 10182227 single base substitution C T intron_variant MELA-AU 1 10183209 10183209 single base substitution C T intron_variant MELA-AU 1 10183236 10183236 single base substitution C T intron_variant MELA-AU 1 10183513 10183513 single base substitution T C intron_variant MELA-AU 1 10183513 10183513 single base substitution T C upstream_gene_variant MELA-AU 1 10183672 10183672 single base substitution C T intron_variant MELA-AU 1 10183672 10183672 single base substitution C T upstream_gene_variant MELA-AU 1 10184505 10184505 single base substitution C T intron_variant MELA-AU 1 10184505 10184505 single base substitution C T upstream_gene_variant MELA-AU 1 10184788 10184788 single base substitution A T intron_variant MELA-AU 1 10184788 10184788 single base substitution A T upstream_gene_variant MELA-AU 1 10185067 10185067 single base substitution C T intron_variant MELA-AU 1 10185067 10185067 single base substitution C T upstream_gene_variant MELA-AU 1 10185121 10185121 single base substitution C T intron_variant MELA-AU 1 10185121 10185121 single base substitution C T upstream_gene_variant MELA-AU 1 10186740 10186740 single base substitution C T intron_variant MELA-AU 1 10186740 10186740 single base substitution C T upstream_gene_variant MELA-AU 1 10186985 10186985 single base substitution C T intron_variant MELA-AU 1 10186985 10186985 single base substitution C T upstream_gene_variant MELA-AU 1 10187399 10187399 single base substitution C T intron_variant MELA-AU 1 10187399 10187399 single base substitution C T upstream_gene_variant MELA-AU 1 10187855 10187855 single base substitution A G intron_variant MELA-AU 1 10187855 10187855 single base substitution A G upstream_gene_variant MELA-AU 1 10188163 10188163 single base substitution C T intron_variant MELA-AU 1 10188163 10188163 single base substitution C T upstream_gene_variant MELA-AU 1 10189570 10189570 single base substitution C T intron_variant MELA-AU 1 10190332 10190332 single base substitution C T intron_variant MELA-AU 1 10190589 10190589 single base substitution C T exon_variant MELA-AU 1 10190589 10190589 single base substitution C T intron_variant MELA-AU 1 10190589 10190589 single base substitution C T missense_variant S331F 992C>T MELA-AU 1 10190589 10190589 single base substitution C T missense_variant S447F 1340C>T MELA-AU 1 10190589 10190589 single base substitution C T missense_variant S576F 1727C>T MELA-AU 1 10191202 10191202 single base substitution C T intron_variant MELA-AU 1 10191299 10191299 single base substitution C T intron_variant MELA-AU 1 10191419 10191419 single base substitution C T intron_variant MELA-AU 1 10191578 10191578 single base substitution G A intron_variant MELA-AU 1 10192842 10192842 single base substitution C T downstream_gene_variant MELA-AU 1 10192842 10192842 single base substitution C T intron_variant MELA-AU 1 10193191 10193191 single base substitution C T downstream_gene_variant MELA-AU 1 10193191 10193191 single base substitution C T intron_variant MELA-AU 1 10195139 10195139 single base substitution G A downstream_gene_variant MELA-AU 1 10195139 10195139 single base substitution G A exon_variant MELA-AU 1 10195139 10195139 single base substitution G A missense_variant D161N 481G>A MELA-AU 1 10195139 10195139 single base substitution G A missense_variant D462N 1384G>A MELA-AU 1 10195139 10195139 single base substitution G A missense_variant D578N 1732G>A MELA-AU 1 10195139 10195139 single base substitution G A missense_variant D707N 2119G>A MELA-AU 1 10195394 10195394 single base substitution T C downstream_gene_variant MELA-AU 1 10195394 10195394 single base substitution T C intron_variant MELA-AU 1 10195477 10195477 single base substitution C T downstream_gene_variant MELA-AU 1 10195477 10195477 single base substitution C T intron_variant MELA-AU 1 10196028 10196028 single base substitution G A downstream_gene_variant MELA-AU 1 10196028 10196028 single base substitution G A intron_variant MELA-AU 1 10196272 10196272 single base substitution C T downstream_gene_variant MELA-AU 1 10196272 10196272 single base substitution C T intron_variant MELA-AU 1 10196302 10196302 single base substitution G A downstream_gene_variant MELA-AU 1 10196302 10196302 single base substitution G A intron_variant MELA-AU 1 10196861 10196861 single base substitution C T downstream_gene_variant MELA-AU 1 10196861 10196861 single base substitution C T intron_variant MELA-AU 1 10197153 10197153 single base substitution G A downstream_gene_variant MELA-AU 1 10197153 10197153 single base substitution G A intron_variant MELA-AU 1 10197153 10197153 single base substitution G A synonymous_variant P205P 615G>A MELA-AU 1 10197153 10197153 single base substitution G A synonymous_variant P506P 1518G>A MELA-AU 1 10197153 10197153 single base substitution G A synonymous_variant P622P 1866G>A MELA-AU 1 10197153 10197153 single base substitution G A synonymous_variant P751P 2253G>A MELA-AU 1 10197160 10197160 single base substitution C T downstream_gene_variant MELA-AU 1 10197160 10197160 single base substitution C T intron_variant MELA-AU 1 10197160 10197160 single base substitution C T missense_variant P208S 622C>T MELA-AU 1 10197160 10197160 single base substitution C T missense_variant P509S 1525C>T MELA-AU 1 10197160 10197160 single base substitution C T missense_variant P625S 1873C>T MELA-AU 1 10197160 10197160 single base substitution C T missense_variant P754S 2260C>T MELA-AU 1 10197313 10197313 single base substitution C T downstream_gene_variant MELA-AU 1 10197313 10197313 single base substitution C T intron_variant MELA-AU 1 10197746 10197746 single base substitution C T intron_variant MELA-AU 1 10198021 10198021 single base substitution C T intron_variant MELA-AU 1 10198023 10198023 single base substitution C T intron_variant MELA-AU 1 10198069 10198069 single base substitution T G intron_variant MELA-AU 1 10198550 10198550 single base substitution C T intron_variant MELA-AU 1 10198659 10198659 single base substitution C T intron_variant MELA-AU 1 10198688 10198688 single base substitution C T intron_variant MELA-AU 1 10198722 10198722 single base substitution C T intron_variant MELA-AU 1 10198833 10198833 single base substitution C T intron_variant MELA-AU 1 10198985 10198985 single base substitution C T intron_variant MELA-AU 1 10199106 10199106 single base substitution C T intron_variant MELA-AU 1 10199597 10199597 single base substitution G C intron_variant MELA-AU 1 10199725 10199725 single base substitution C T intron_variant MELA-AU 1 10200286 10200286 single base substitution T C intron_variant MELA-AU 1 10200403 10200403 single base substitution T G intron_variant MELA-AU 1 10200616 10200616 single base substitution T A intron_variant MELA-AU 1 10200651 10200651 single base substitution C T intron_variant MELA-AU 1 10200818 10200818 single base substitution G A intron_variant MELA-AU 1 10201152 10201152 single base substitution C T intron_variant MELA-AU 1 10201169 10201169 single base substitution C T intron_variant MELA-AU 1 10201273 10201273 single base substitution A T intron_variant MELA-AU 1 10201505 10201506 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 1 10202027 10202027 single base substitution C T intron_variant MELA-AU 1 10202208 10202208 single base substitution C T intron_variant MELA-AU 1 10202218 10202218 single base substitution C T intron_variant MELA-AU 1 10202448 10202448 single base substitution C T intron_variant MELA-AU 1 10202493 10202493 single base substitution C T intron_variant MELA-AU 1 10202584 10202584 single base substitution C T intron_variant MELA-AU 1 10203120 10203120 single base substitution C T intron_variant MELA-AU 1 10203209 10203209 single base substitution C T intron_variant MELA-AU 1 10203214 10203214 single base substitution C T intron_variant MELA-AU 1 10203241 10203241 single base substitution C T intron_variant MELA-AU 1 10203427 10203427 single base substitution C T intron_variant MELA-AU 1 10204252 10204252 single base substitution A T intron_variant MELA-AU 1 10204356 10204356 single base substitution G A intron_variant MELA-AU 1 10204463 10204463 single base substitution C T intron_variant MELA-AU 1 10205043 10205043 single base substitution C T exon_variant MELA-AU 1 10205043 10205043 single base substitution C T synonymous_variant S257S 771C>T MELA-AU 1 10205043 10205043 single base substitution C T synonymous_variant S558S 1674C>T MELA-AU 1 10205043 10205043 single base substitution C T synonymous_variant S674S 2022C>T MELA-AU 1 10205043 10205043 single base substitution C T synonymous_variant S803S 2409C>T MELA-AU 1 10205214 10205214 single base substitution C T downstream_gene_variant MELA-AU 1 10205214 10205214 single base substitution C T exon_variant MELA-AU 1 10205214 10205214 single base substitution C T intron_variant MELA-AU 1 10205456 10205456 single base substitution C T downstream_gene_variant MELA-AU 1 10205456 10205456 single base substitution C T exon_variant MELA-AU 1 10205456 10205456 single base substitution C T intron_variant MELA-AU 1 10205472 10205473 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 10205472 10205473 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 1 10205472 10205473 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 10205698 10205698 single base substitution C T downstream_gene_variant MELA-AU 1 10205698 10205698 single base substitution C T intron_variant MELA-AU 1 10206615 10206615 single base substitution C T downstream_gene_variant MELA-AU 1 10206615 10206615 single base substitution C T intron_variant MELA-AU 1 10206931 10206931 single base substitution C T downstream_gene_variant MELA-AU 1 10206931 10206931 single base substitution C T intron_variant MELA-AU 1 10206963 10206964 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 10206963 10206964 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 10207007 10207007 single base substitution C T downstream_gene_variant MELA-AU 1 10207007 10207007 single base substitution C T intron_variant MELA-AU 1 10207171 10207171 single base substitution C T downstream_gene_variant MELA-AU 1 10207171 10207171 single base substitution C T intron_variant MELA-AU 1 10207632 10207632 single base substitution C T downstream_gene_variant MELA-AU 1 10207632 10207632 single base substitution C T intron_variant MELA-AU 1 10207717 10207717 single base substitution C T downstream_gene_variant MELA-AU 1 10207717 10207717 single base substitution C T intron_variant MELA-AU 1 10208246 10208246 single base substitution C T downstream_gene_variant MELA-AU 1 10208246 10208246 single base substitution C T intron_variant MELA-AU 1 10208267 10208267 single base substitution G A downstream_gene_variant MELA-AU 1 10208267 10208267 single base substitution G A intron_variant MELA-AU 1 10208967 10208967 single base substitution C T downstream_gene_variant MELA-AU 1 10208967 10208967 single base substitution C T intron_variant MELA-AU 1 10209130 10209130 single base substitution G A downstream_gene_variant MELA-AU 1 10209130 10209130 single base substitution G A intron_variant MELA-AU 1 10209705 10209705 single base substitution A G downstream_gene_variant MELA-AU 1 10209705 10209705 single base substitution A G intron_variant MELA-AU 1 10211773 10211773 single base substitution G A intron_variant MELA-AU 1 10212373 10212373 single base substitution A G intron_variant MELA-AU 1 10212516 10212516 single base substitution C T intron_variant MELA-AU 1 10212851 10212851 single base substitution G A intron_variant MELA-AU 1 10213008 10213008 single base substitution C T intron_variant MELA-AU 1 10213140 10213140 single base substitution C T intron_variant MELA-AU 1 10213966 10213966 single base substitution C T intron_variant MELA-AU 1 10213966 10213966 single base substitution C T upstream_gene_variant MELA-AU 1 10214120 10214120 single base substitution A G intron_variant MELA-AU 1 10214120 10214120 single base substitution A G upstream_gene_variant MELA-AU 1 10214134 10214134 single base substitution C T intron_variant MELA-AU 1 10214134 10214134 single base substitution C T upstream_gene_variant MELA-AU 1 10214225 10214225 single base substitution C T intron_variant MELA-AU 1 10214225 10214225 single base substitution C T upstream_gene_variant MELA-AU 1 10214341 10214341 single base substitution T G intron_variant MELA-AU 1 10214341 10214341 single base substitution T G upstream_gene_variant MELA-AU 1 10214606 10214606 single base substitution A C intron_variant MELA-AU 1 10214606 10214606 single base substitution A C upstream_gene_variant MELA-AU 1 10215752 10215752 single base substitution C T intron_variant MELA-AU 1 10215752 10215752 single base substitution C T upstream_gene_variant MELA-AU 1 10215834 10215834 single base substitution A T intron_variant MELA-AU 1 10215834 10215834 single base substitution A T upstream_gene_variant MELA-AU 1 10216229 10216229 single base substitution G A intron_variant MELA-AU 1 10216229 10216229 single base substitution G A upstream_gene_variant MELA-AU 1 10216888 10216888 single base substitution C T intron_variant MELA-AU 1 10216888 10216888 single base substitution C T upstream_gene_variant MELA-AU 1 10217159 10217160 deletion of <=200bp TG - intron_variant MELA-AU 1 10217159 10217160 deletion of <=200bp TG - upstream_gene_variant MELA-AU 1 10217196 10217196 single base substitution C T intron_variant MELA-AU 1 10217196 10217196 single base substitution C T upstream_gene_variant MELA-AU 1 10217305 10217305 single base substitution C T intron_variant MELA-AU 1 10217305 10217305 single base substitution C T upstream_gene_variant MELA-AU 1 10217569 10217569 single base substitution G T intron_variant MELA-AU 1 10217569 10217569 single base substitution G T upstream_gene_variant MELA-AU 1 10218181 10218181 single base substitution C T intron_variant MELA-AU 1 10218181 10218181 single base substitution C T upstream_gene_variant MELA-AU 1 10218464 10218464 single base substitution C T exon_variant MELA-AU 1 10218464 10218464 single base substitution C T missense_variant R748C 2242C>T MELA-AU 1 10218464 10218464 single base substitution C T missense_variant R864C 2590C>T MELA-AU 1 10218464 10218464 single base substitution C T missense_variant R993C 2977C>T MELA-AU 1 10218515 10218515 single base substitution C T exon_variant MELA-AU 1 10218515 10218515 single base substitution C T missense_variant H1010Y 3028C>T MELA-AU 1 10218515 10218515 single base substitution C T missense_variant H765Y 2293C>T MELA-AU 1 10218515 10218515 single base substitution C T missense_variant H881Y 2641C>T MELA-AU 1 10218558 10218558 single base substitution C T intron_variant MELA-AU 1 10219736 10219736 single base substitution C T intron_variant MELA-AU 1 10220337 10220337 single base substitution A C intron_variant MELA-AU 1 10220711 10220711 single base substitution T A intron_variant MELA-AU 1 10220884 10220884 single base substitution C T intron_variant MELA-AU 1 10222166 10222166 single base substitution C T intron_variant MELA-AU 1 10222492 10222492 single base substitution A G intron_variant MELA-AU 1 10222886 10222886 single base substitution C T intron_variant MELA-AU 1 10222985 10222985 single base substitution C T intron_variant MELA-AU 1 10223044 10223044 single base substitution C T intron_variant MELA-AU 1 10223058 10223058 single base substitution T C intron_variant MELA-AU 1 10223155 10223155 single base substitution C T intron_variant MELA-AU 1 10223608 10223608 single base substitution C T intron_variant MELA-AU 1 10224087 10224087 single base substitution A G intron_variant MELA-AU 1 10224281 10224281 single base substitution C T intron_variant MELA-AU 1 10224718 10224718 single base substitution C T intron_variant MELA-AU 1 10224962 10224962 single base substitution C T intron_variant MELA-AU 1 10225783 10225783 single base substitution C G intron_variant MELA-AU 1 10225805 10225805 single base substitution C T intron_variant MELA-AU 1 10226074 10226074 single base substitution C T intron_variant MELA-AU 1 10226074 10226074 single base substitution C T upstream_gene_variant MELA-AU 1 10226475 10226475 single base substitution C T intron_variant MELA-AU 1 10226475 10226475 single base substitution C T upstream_gene_variant MELA-AU 1 10227065 10227065 single base substitution C T intron_variant MELA-AU 1 10227065 10227065 single base substitution C T upstream_gene_variant MELA-AU 1 10227183 10227183 single base substitution C T intron_variant MELA-AU 1 10227183 10227183 single base substitution C T upstream_gene_variant MELA-AU 1 10227489 10227489 single base substitution C T intron_variant MELA-AU 1 10227489 10227489 single base substitution C T upstream_gene_variant MELA-AU 1 10227608 10227608 single base substitution C T intron_variant MELA-AU 1 10227608 10227608 single base substitution C T upstream_gene_variant MELA-AU 1 10227941 10227942 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 10227941 10227942 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 10227956 10227956 single base substitution T C intron_variant MELA-AU 1 10227956 10227956 single base substitution T C upstream_gene_variant MELA-AU 1 10227965 10227965 single base substitution C T intron_variant MELA-AU 1 10227965 10227965 single base substitution C T upstream_gene_variant MELA-AU 1 10228461 10228461 single base substitution G A intron_variant MELA-AU 1 10228461 10228461 single base substitution G A upstream_gene_variant MELA-AU 1 10228548 10228548 single base substitution C T intron_variant MELA-AU 1 10228548 10228548 single base substitution C T upstream_gene_variant MELA-AU 1 10228961 10228961 single base substitution A G intron_variant MELA-AU 1 10228961 10228961 single base substitution A G upstream_gene_variant MELA-AU 1 10229325 10229325 single base substitution A G intron_variant MELA-AU 1 10229325 10229325 single base substitution A G upstream_gene_variant MELA-AU 1 10229375 10229375 single base substitution C T intron_variant MELA-AU 1 10229375 10229375 single base substitution C T upstream_gene_variant MELA-AU 1 10229607 10229607 single base substitution C T intron_variant MELA-AU 1 10229607 10229607 single base substitution C T upstream_gene_variant MELA-AU 1 10230140 10230140 single base substitution T A intron_variant MELA-AU 1 10230140 10230140 single base substitution T A upstream_gene_variant MELA-AU 1 10230762 10230762 single base substitution G T intron_variant MELA-AU 1 10230762 10230762 single base substitution G T upstream_gene_variant MELA-AU 1 10231508 10231508 single base substitution G A downstream_gene_variant MELA-AU 1 10231508 10231508 single base substitution G A intron_variant MELA-AU 1 10232393 10232393 single base substitution C T downstream_gene_variant MELA-AU 1 10232393 10232393 single base substitution C T intron_variant MELA-AU 1 10232399 10232399 single base substitution T A downstream_gene_variant MELA-AU 1 10232399 10232399 single base substitution T A intron_variant MELA-AU 1 10232427 10232427 single base substitution T A downstream_gene_variant MELA-AU 1 10232427 10232427 single base substitution T A intron_variant MELA-AU 1 10233057 10233057 single base substitution C T downstream_gene_variant MELA-AU 1 10233057 10233057 single base substitution C T intron_variant MELA-AU 1 10233627 10233627 single base substitution A T downstream_gene_variant MELA-AU 1 10233627 10233627 single base substitution A T intron_variant MELA-AU 1 10233735 10233735 single base substitution G A downstream_gene_variant MELA-AU 1 10233735 10233735 single base substitution G A intron_variant MELA-AU 1 10233752 10233752 single base substitution C T downstream_gene_variant MELA-AU 1 10233752 10233752 single base substitution C T intron_variant MELA-AU 1 10233876 10233876 single base substitution C T downstream_gene_variant MELA-AU 1 10233876 10233876 single base substitution C T intron_variant MELA-AU 1 10233983 10233983 single base substitution C T downstream_gene_variant MELA-AU 1 10233983 10233983 single base substitution C T intron_variant MELA-AU 1 10234279 10234279 single base substitution C T downstream_gene_variant MELA-AU 1 10234279 10234279 single base substitution C T intron_variant MELA-AU 1 10234279 10234279 single base substitution C T upstream_gene_variant MELA-AU 1 10234674 10234674 single base substitution C T downstream_gene_variant MELA-AU 1 10234674 10234674 single base substitution C T intron_variant MELA-AU 1 10234674 10234674 single base substitution C T upstream_gene_variant MELA-AU 1 10234848 10234848 single base substitution C T downstream_gene_variant MELA-AU 1 10234848 10234848 single base substitution C T intron_variant MELA-AU 1 10234848 10234848 single base substitution C T upstream_gene_variant MELA-AU 1 10235005 10235005 single base substitution C T downstream_gene_variant MELA-AU 1 10235005 10235005 single base substitution C T intron_variant MELA-AU 1 10235005 10235005 single base substitution C T upstream_gene_variant MELA-AU 1 10236092 10236092 single base substitution C T downstream_gene_variant MELA-AU 1 10236092 10236092 single base substitution C T intron_variant MELA-AU 1 10236092 10236092 single base substitution C T upstream_gene_variant MELA-AU 1 10236137 10236137 single base substitution C T downstream_gene_variant MELA-AU 1 10236137 10236137 single base substitution C T intron_variant MELA-AU 1 10236137 10236137 single base substitution C T upstream_gene_variant MELA-AU 1 10236239 10236239 single base substitution C T downstream_gene_variant MELA-AU 1 10236239 10236239 single base substitution C T intron_variant MELA-AU 1 10236239 10236239 single base substitution C T upstream_gene_variant MELA-AU 1 10236703 10236703 single base substitution C T intron_variant MELA-AU 1 10236703 10236703 single base substitution C T upstream_gene_variant MELA-AU 1 10236847 10236847 single base substitution T C intron_variant MELA-AU 1 10236847 10236847 single base substitution T C upstream_gene_variant MELA-AU 1 10236875 10236875 single base substitution C T intron_variant MELA-AU 1 10236875 10236875 single base substitution C T upstream_gene_variant MELA-AU 1 10237043 10237043 single base substitution C T intron_variant MELA-AU 1 10237043 10237043 single base substitution C T upstream_gene_variant MELA-AU 1 10237409 10237409 single base substitution C T intron_variant MELA-AU 1 10237409 10237409 single base substitution C T upstream_gene_variant MELA-AU 1 10237454 10237454 single base substitution C T intron_variant MELA-AU 1 10237454 10237454 single base substitution C T upstream_gene_variant MELA-AU 1 10237463 10237463 single base substitution C T intron_variant MELA-AU 1 10237463 10237463 single base substitution C T upstream_gene_variant MELA-AU 1 10238024 10238024 single base substitution C T intron_variant MELA-AU 1 10238024 10238024 single base substitution C T upstream_gene_variant MELA-AU 1 10238075 10238075 single base substitution C T intron_variant MELA-AU 1 10238075 10238075 single base substitution C T upstream_gene_variant MELA-AU 1 10238271 10238271 single base substitution G A intron_variant MELA-AU 1 10238271 10238271 single base substitution G A upstream_gene_variant MELA-AU 1 10238351 10238351 single base substitution C T intron_variant MELA-AU 1 10238351 10238351 single base substitution C T upstream_gene_variant MELA-AU 1 10238694 10238694 single base substitution C T splice_region_variant MELA-AU 1 10238694 10238694 single base substitution C T upstream_gene_variant MELA-AU 1 10238761 10238761 single base substitution C T exon_variant MELA-AU 1 10238761 10238761 single base substitution C T synonymous_variant I1066I 3198C>T MELA-AU 1 10238761 10238761 single base substitution C T synonymous_variant I1195I 3585C>T MELA-AU 1 10238761 10238761 single base substitution C T synonymous_variant I950I 2850C>T MELA-AU 1 10238761 10238761 single base substitution C T upstream_gene_variant MELA-AU 1 10238845 10238845 single base substitution C T exon_variant MELA-AU 1 10238845 10238845 single base substitution C T synonymous_variant I1094I 3282C>T MELA-AU 1 10238845 10238845 single base substitution C T synonymous_variant I1223I 3669C>T MELA-AU 1 10238845 10238845 single base substitution C T synonymous_variant I978I 2934C>T MELA-AU 1 10238845 10238845 single base substitution C T upstream_gene_variant MELA-AU 1 10238888 10238888 single base substitution C T intron_variant MELA-AU 1 10238888 10238888 single base substitution C T missense_variant H993Y 2977C>T MELA-AU 1 10238888 10238888 single base substitution C T upstream_gene_variant MELA-AU 1 10239252 10239252 single base substitution C T intron_variant MELA-AU 1 10239333 10239333 single base substitution C T intron_variant MELA-AU 1 10239378 10239378 single base substitution C T intron_variant MELA-AU 1 10239504 10239504 single base substitution C T exon_variant MELA-AU 1 10239504 10239504 single base substitution C T missense_variant P1003L 3008C>T MELA-AU 1 10239504 10239504 single base substitution C T missense_variant P1115L 3344C>T MELA-AU 1 10239504 10239504 single base substitution C T missense_variant P1244L 3731C>T MELA-AU 1 10239915 10239915 single base substitution C T intron_variant MELA-AU 1 10240192 10240192 single base substitution C T 3_prime_UTR_variant MELA-AU 1 10240192 10240192 single base substitution C T downstream_gene_variant MELA-AU 1 10240570 10240570 single base substitution C T 3_prime_UTR_variant MELA-AU 1 10240570 10240570 single base substitution C T downstream_gene_variant MELA-AU 1 10240697 10240697 single base substitution C T 3_prime_UTR_variant MELA-AU 1 10240697 10240697 single base substitution C T downstream_gene_variant MELA-AU 1 10240777 10240777 single base substitution C T 3_prime_UTR_variant MELA-AU 1 10240777 10240777 single base substitution C T downstream_gene_variant MELA-AU 1 10240905 10240905 single base substitution C T 3_prime_UTR_variant MELA-AU 1 10240905 10240905 single base substitution C T downstream_gene_variant MELA-AU 1 10241127 10241127 single base substitution C T 3_prime_UTR_variant MELA-AU 1 10241127 10241127 single base substitution C T downstream_gene_variant MELA-AU 1 10241224 10241224 single base substitution C T 3_prime_UTR_variant MELA-AU 1 10241224 10241224 single base substitution C T downstream_gene_variant MELA-AU 1 10241759 10241759 single base substitution C T downstream_gene_variant MELA-AU 1 10241971 10241971 single base substitution C T downstream_gene_variant MELA-AU 1 10244220 10244220 single base substitution C T downstream_gene_variant MELA-AU 1 10245084 10245084 single base substitution C T downstream_gene_variant MELA-AU 1 10245252 10245252 insertion of <=200bp - ATTACACC downstream_gene_variant MELA-AU 1 10245289 10245289 single base substitution G A downstream_gene_variant MELA-AU 1 10245631 10245631 single base substitution C T downstream_gene_variant MELA-AU 1 10245670 10245670 single base substitution C T downstream_gene_variant ORCA-IN 1 10101823 10101823 single base substitution C T intron_variant ORCA-IN 1 10177632 10177632 single base substitution G T exon_variant ORCA-IN 1 10177632 10177632 single base substitution G T stop_gained G193* 577G>T ORCA-IN 1 10177632 10177632 single base substitution G T stop_gained G309* 925G>T ORCA-IN 1 10177632 10177632 single base substitution G T stop_gained G438* 1312G>T ORCA-IN 1 10177632 10177632 single base substitution G T upstream_gene_variant ORCA-IN 1 10182303 10182303 single base substitution C G intron_variant ORCA-IN 1 10192489 10192489 single base substitution C A exon_variant ORCA-IN 1 10192489 10192489 single base substitution C A synonymous_variant L112L 336C>A ORCA-IN 1 10192489 10192489 single base substitution C A synonymous_variant L413L 1239C>A ORCA-IN 1 10192489 10192489 single base substitution C A synonymous_variant L529L 1587C>A ORCA-IN 1 10192489 10192489 single base substitution C A synonymous_variant L658L 1974C>A ORCA-IN 1 10207461 10207461 single base substitution G C downstream_gene_variant ORCA-IN 1 10207461 10207461 single base substitution G C intron_variant ORCA-IN 1 10221248 10221248 single base substitution G A exon_variant ORCA-IN 1 10221248 10221248 single base substitution G A synonymous_variant T1034T 3102G>A ORCA-IN 1 10221248 10221248 single base substitution G A synonymous_variant T789T 2367G>A ORCA-IN 1 10221248 10221248 single base substitution G A synonymous_variant T905T 2715G>A ORCA-IN 1 10245593 10245593 single base substitution G A downstream_gene_variant OV-AU 1 10087897 10087897 single base substitution C T upstream_gene_variant OV-AU 1 10092872 10092872 single base substitution T G upstream_gene_variant OV-AU 1 10095247 10095247 single base substitution G T intron_variant OV-AU 1 10110831 10110831 single base substitution C T intron_variant OV-AU 1 10119671 10119671 single base substitution G T intron_variant OV-AU 1 10124034 10124034 single base substitution T C intron_variant OV-AU 1 10126796 10126796 single base substitution T A intron_variant OV-AU 1 10126984 10126984 single base substitution C G intron_variant OV-AU 1 10150367 10150367 single base substitution G A intron_variant OV-AU 1 10155892 10155892 single base substitution C T intron_variant OV-AU 1 10166570 10166570 single base substitution G A downstream_gene_variant OV-AU 1 10166570 10166570 single base substitution G A intron_variant OV-AU 1 10166570 10166570 single base substitution G A synonymous_variant T375T 1125G>A OV-AU 1 10166570 10166570 single base substitution G A upstream_gene_variant OV-AU 1 10167293 10167293 single base substitution C T downstream_gene_variant OV-AU 1 10167293 10167293 single base substitution C T intron_variant OV-AU 1 10167293 10167293 single base substitution C T upstream_gene_variant OV-AU 1 10172559 10172559 single base substitution G A intron_variant OV-AU 1 10176149 10176149 single base substitution G T intron_variant OV-AU 1 10186565 10186565 single base substitution T A intron_variant OV-AU 1 10186565 10186565 single base substitution T A upstream_gene_variant OV-AU 1 10188724 10188724 single base substitution G C exon_variant OV-AU 1 10188724 10188724 single base substitution G C intron_variant OV-AU 1 10195001 10195001 single base substitution T A downstream_gene_variant OV-AU 1 10195001 10195001 single base substitution T A intron_variant OV-AU 1 10199551 10199551 single base substitution T A intron_variant OV-AU 1 10211732 10211732 single base substitution G A intron_variant OV-AU 1 10212831 10212831 single base substitution A G intron_variant OV-AU 1 10213669 10213669 single base substitution G T intron_variant OV-AU 1 10213669 10213669 single base substitution G T upstream_gene_variant OV-AU 1 10213784 10213784 single base substitution G C intron_variant OV-AU 1 10213784 10213784 single base substitution G C upstream_gene_variant OV-AU 1 10220068 10220068 single base substitution T A intron_variant OV-AU 1 10220480 10220480 single base substitution A G intron_variant OV-AU 1 10228256 10228256 single base substitution C T 3_prime_UTR_variant OV-AU 1 10228256 10228256 single base substitution C T synonymous_variant L1087L 3261C>T OV-AU 1 10228256 10228256 single base substitution C T synonymous_variant L842L 2526C>T OV-AU 1 10228256 10228256 single base substitution C T synonymous_variant L958L 2874C>T OV-AU 1 10228256 10228256 single base substitution C T upstream_gene_variant OV-AU 1 10235814 10235814 single base substitution C G downstream_gene_variant OV-AU 1 10235814 10235814 single base substitution C G intron_variant OV-AU 1 10235814 10235814 single base substitution C G upstream_gene_variant OV-US 1 10238758 10238758 single base substitution G C exon_variant OV-US 1 10238758 10238758 single base substitution G C synonymous_variant G1065G 3195G>C OV-US 1 10238758 10238758 single base substitution G C synonymous_variant G1194G 3582G>C OV-US 1 10238758 10238758 single base substitution G C synonymous_variant G949G 2847G>C OV-US 1 10238758 10238758 single base substitution G C upstream_gene_variant PACA-AU 1 10087906 10087906 single base substitution G A upstream_gene_variant PACA-AU 1 10091246 10091246 single base substitution T A upstream_gene_variant PACA-AU 1 10098974 10098981 deletion of <=200bp TGGGTGTG - intron_variant PACA-AU 1 10099242 10099242 single base substitution G C intron_variant PACA-AU 1 10100990 10100990 single base substitution C A intron_variant PACA-AU 1 10101817 10101817 single base substitution C T intron_variant PACA-AU 1 10107971 10107971 single base substitution C A intron_variant PACA-AU 1 10119603 10119604 deletion of <=200bp TA - intron_variant PACA-AU 1 10120502 10120502 single base substitution G A intron_variant PACA-AU 1 10121643 10121643 single base substitution C T intron_variant PACA-AU 1 10132095 10132095 single base substitution A T 5_prime_UTR_variant PACA-AU 1 10132095 10132095 single base substitution A T missense_variant R12W 34A>T PACA-AU 1 10139932 10139932 single base substitution T G intron_variant PACA-AU 1 10148729 10148729 single base substitution G A intron_variant PACA-AU 1 10149456 10149456 single base substitution C T intron_variant PACA-AU 1 10154744 10154744 single base substitution G A intron_variant PACA-AU 1 10164225 10164225 single base substitution G T downstream_gene_variant PACA-AU 1 10164225 10164225 single base substitution G T intron_variant PACA-AU 1 10164225 10164225 single base substitution G T upstream_gene_variant PACA-AU 1 10165657 10165657 single base substitution T C downstream_gene_variant PACA-AU 1 10165657 10165657 single base substitution T C missense_variant F106L 316T>C PACA-AU 1 10165657 10165657 single base substitution T C missense_variant F222L 664T>C PACA-AU 1 10165657 10165657 single base substitution T C upstream_gene_variant PACA-AU 1 10167152 10167152 single base substitution G T downstream_gene_variant PACA-AU 1 10167152 10167152 single base substitution G T intron_variant PACA-AU 1 10167152 10167152 single base substitution G T upstream_gene_variant PACA-AU 1 10173672 10173672 single base substitution G C intron_variant PACA-AU 1 10175810 10175810 single base substitution C T intron_variant PACA-AU 1 10186268 10186268 single base substitution G T intron_variant PACA-AU 1 10186268 10186268 single base substitution G T upstream_gene_variant PACA-AU 1 10194120 10194120 single base substitution G A downstream_gene_variant PACA-AU 1 10194120 10194120 single base substitution G A intron_variant PACA-AU 1 10196207 10196207 single base substitution A G downstream_gene_variant PACA-AU 1 10196207 10196207 single base substitution A G intron_variant PACA-AU 1 10203232 10203232 single base substitution C T intron_variant PACA-AU 1 10212436 10212436 deletion of <=200bp A - intron_variant PACA-AU 1 10215157 10215157 single base substitution G T intron_variant PACA-AU 1 10215157 10215157 single base substitution G T upstream_gene_variant PACA-AU 1 10219018 10219018 single base substitution A C intron_variant PACA-AU 1 10220583 10220583 single base substitution G A intron_variant PACA-AU 1 10232026 10232026 deletion of <=200bp C - downstream_gene_variant PACA-AU 1 10232026 10232026 deletion of <=200bp C - intron_variant PACA-AU 1 10235122 10235122 single base substitution A T downstream_gene_variant PACA-AU 1 10235122 10235122 single base substitution A T intron_variant PACA-AU 1 10235122 10235122 single base substitution A T upstream_gene_variant PACA-AU 1 10236286 10236286 single base substitution C A intron_variant PACA-AU 1 10236286 10236286 single base substitution C A upstream_gene_variant PACA-AU 1 10238267 10238267 single base substitution G C intron_variant PACA-AU 1 10238267 10238267 single base substitution G C upstream_gene_variant PACA-AU 1 10238705 10238705 single base substitution T A exon_variant PACA-AU 1 10238705 10238705 single base substitution T A missense_variant S1048T 3142T>A PACA-AU 1 10238705 10238705 single base substitution T A missense_variant S1177T 3529T>A PACA-AU 1 10238705 10238705 single base substitution T A missense_variant S932T 2794T>A PACA-AU 1 10238705 10238705 single base substitution T A upstream_gene_variant PACA-AU 1 10245709 10245709 single base substitution T C downstream_gene_variant PACA-CA 1 10089354 10089354 single base substitution G T upstream_gene_variant PACA-CA 1 10095152 10095152 single base substitution G T intron_variant PACA-CA 1 10108437 10108437 single base substitution G A intron_variant PACA-CA 1 10109651 10109651 single base substitution A T intron_variant PACA-CA 1 10109652 10109652 single base substitution T A intron_variant PACA-CA 1 10115370 10115370 single base substitution C T intron_variant PACA-CA 1 10116228 10116228 single base substitution G A intron_variant PACA-CA 1 10118596 10118596 single base substitution G T intron_variant PACA-CA 1 10119885 10119885 single base substitution T G intron_variant PACA-CA 1 10121470 10121470 single base substitution G A intron_variant PACA-CA 1 10128015 10128015 single base substitution T C intron_variant PACA-CA 1 10129268 10129268 single base substitution A C intron_variant PACA-CA 1 10129358 10129358 single base substitution T G intron_variant PACA-CA 1 10132601 10132601 deletion of <=200bp T - frameshift_variant *101 PACA-CA 1 10132601 10132601 deletion of <=200bp T - intron_variant PACA-CA 1 10138043 10138043 insertion of <=200bp - T downstream_gene_variant PACA-CA 1 10138043 10138043 insertion of <=200bp - T intron_variant PACA-CA 1 10138086 10138086 single base substitution G T downstream_gene_variant PACA-CA 1 10138086 10138086 single base substitution G T intron_variant PACA-CA 1 10138722 10138722 single base substitution C G intron_variant PACA-CA 1 10142290 10142290 single base substitution C T intron_variant PACA-CA 1 10143373 10143373 single base substitution C T intron_variant PACA-CA 1 10148736 10148736 single base substitution A T intron_variant PACA-CA 1 10150186 10150186 insertion of <=200bp - G intron_variant PACA-CA 1 10150284 10150284 single base substitution C T intron_variant PACA-CA 1 10152733 10152733 insertion of <=200bp - AG intron_variant PACA-CA 1 10157110 10157110 single base substitution A T intron_variant PACA-CA 1 10157110 10157110 single base substitution A T upstream_gene_variant PACA-CA 1 10160425 10160425 single base substitution G T intron_variant PACA-CA 1 10160425 10160425 single base substitution G T upstream_gene_variant PACA-CA 1 10162746 10162746 single base substitution G A intron_variant PACA-CA 1 10162746 10162746 single base substitution G A upstream_gene_variant PACA-CA 1 10163050 10163050 single base substitution G A exon_variant PACA-CA 1 10163050 10163050 single base substitution G A synonymous_variant Q160Q 480G>A PACA-CA 1 10163050 10163050 single base substitution G A synonymous_variant Q44Q 132G>A PACA-CA 1 10163050 10163050 single base substitution G A upstream_gene_variant PACA-CA 1 10167418 10167418 single base substitution C T downstream_gene_variant PACA-CA 1 10167418 10167418 single base substitution C T exon_variant PACA-CA 1 10167418 10167418 single base substitution C T intron_variant PACA-CA 1 10168764 10168764 single base substitution C T intron_variant PACA-CA 1 10169444 10169444 single base substitution G A intron_variant PACA-CA 1 10169919 10169919 single base substitution G A intron_variant PACA-CA 1 10171607 10171607 single base substitution G A intron_variant PACA-CA 1 10173396 10173396 deletion of <=200bp C - intron_variant PACA-CA 1 10178084 10178084 single base substitution T A intron_variant PACA-CA 1 10178084 10178084 single base substitution T A upstream_gene_variant PACA-CA 1 10178881 10178881 deletion of <=200bp T - intron_variant PACA-CA 1 10178881 10178881 deletion of <=200bp T - upstream_gene_variant PACA-CA 1 10180724 10180724 single base substitution A G intron_variant PACA-CA 1 10180724 10180724 single base substitution A G upstream_gene_variant PACA-CA 1 10181706 10181706 single base substitution C G intron_variant PACA-CA 1 10181706 10181706 single base substitution C G upstream_gene_variant PACA-CA 1 10190120 10190120 single base substitution G C intron_variant PACA-CA 1 10192660 10192660 single base substitution G A downstream_gene_variant PACA-CA 1 10192660 10192660 single base substitution G A intron_variant PACA-CA 1 10194463 10194463 single base substitution G A downstream_gene_variant PACA-CA 1 10194463 10194463 single base substitution G A intron_variant PACA-CA 1 10199301 10199301 single base substitution A G intron_variant PACA-CA 1 10202334 10202334 single base substitution C T intron_variant PACA-CA 1 10209005 10209005 deletion of <=200bp A - downstream_gene_variant PACA-CA 1 10209005 10209005 deletion of <=200bp A - intron_variant PACA-CA 1 10223300 10223300 single base substitution T A intron_variant PACA-CA 1 10226613 10226613 single base substitution A C intron_variant PACA-CA 1 10226613 10226613 single base substitution A C upstream_gene_variant PACA-CA 1 10227030 10227030 single base substitution A C intron_variant PACA-CA 1 10227030 10227030 single base substitution A C upstream_gene_variant PACA-CA 1 10227840 10227840 single base substitution G A intron_variant PACA-CA 1 10227840 10227840 single base substitution G A upstream_gene_variant PACA-CA 1 10232757 10232757 deletion of <=200bp T - downstream_gene_variant PACA-CA 1 10232757 10232757 deletion of <=200bp T - intron_variant PACA-CA 1 10233373 10233373 deletion of <=200bp A - downstream_gene_variant PACA-CA 1 10233373 10233373 deletion of <=200bp A - intron_variant PACA-CA 1 10233566 10233566 single base substitution T C downstream_gene_variant PACA-CA 1 10233566 10233566 single base substitution T C intron_variant PACA-CA 1 10234309 10234309 single base substitution G A downstream_gene_variant PACA-CA 1 10234309 10234309 single base substitution G A intron_variant PACA-CA 1 10234309 10234309 single base substitution G A upstream_gene_variant PACA-CA 1 10239029 10239031 deletion of <=200bp AGC - intron_variant PACA-CA 1 10239029 10239031 deletion of <=200bp AGC - upstream_gene_variant PACA-CA 1 10239033 10239033 deletion of <=200bp C - intron_variant PACA-CA 1 10239033 10239033 deletion of <=200bp C - upstream_gene_variant PACA-CA 1 10239405 10239405 single base substitution C T intron_variant PACA-CA 1 10242519 10242519 single base substitution G A downstream_gene_variant PACA-CA 1 10243021 10243021 single base substitution G A downstream_gene_variant PAEN-AU 1 10122298 10122298 single base substitution T C intron_variant PAEN-AU 1 10169357 10169357 single base substitution C G intron_variant PAEN-AU 1 10195948 10195948 single base substitution T G downstream_gene_variant PAEN-AU 1 10195948 10195948 single base substitution T G intron_variant PAEN-IT 1 10107409 10107409 single base substitution A T intron_variant PAEN-IT 1 10147323 10147323 single base substitution G T intron_variant PAEN-IT 1 10150836 10150836 single base substitution T C intron_variant PBCA-DE 1 10089828 10089828 deletion of <=200bp A - upstream_gene_variant PBCA-DE 1 10091157 10091157 insertion of <=200bp - T upstream_gene_variant PBCA-DE 1 10093005 10093005 single base substitution G A 5_prime_UTR_variant PBCA-DE 1 10093005 10093005 single base substitution G A upstream_gene_variant PBCA-DE 1 10101169 10101169 single base substitution G T intron_variant PBCA-DE 1 10101704 10101704 single base substitution A G intron_variant PBCA-DE 1 10113197 10113200 deletion of <=200bp TTTA - intron_variant PBCA-DE 1 10115806 10115806 deletion of <=200bp T - intron_variant PBCA-DE 1 10118970 10118970 single base substitution C G intron_variant PBCA-DE 1 10142394 10142394 insertion of <=200bp - A intron_variant PBCA-DE 1 10162035 10162036 deletion of <=200bp GT - intron_variant PBCA-DE 1 10165166 10165166 single base substitution A G downstream_gene_variant PBCA-DE 1 10165166 10165166 single base substitution A G intron_variant PBCA-DE 1 10165166 10165166 single base substitution A G upstream_gene_variant PBCA-DE 1 10166253 10166253 single base substitution A T downstream_gene_variant PBCA-DE 1 10166253 10166253 single base substitution A T intron_variant PBCA-DE 1 10166253 10166253 single base substitution A T splice_acceptor_variant PBCA-DE 1 10166253 10166253 single base substitution A T upstream_gene_variant PBCA-DE 1 10167808 10167808 single base substitution G A downstream_gene_variant PBCA-DE 1 10167808 10167808 single base substitution G A intron_variant PBCA-DE 1 10168205 10168206 deletion of <=200bp GT - downstream_gene_variant PBCA-DE 1 10168205 10168206 deletion of <=200bp GT - intron_variant PBCA-DE 1 10171272 10171273 deletion of <=200bp AC - intron_variant PBCA-DE 1 10179805 10179805 single base substitution C A intron_variant PBCA-DE 1 10179805 10179805 single base substitution C A upstream_gene_variant PBCA-DE 1 10183612 10183612 single base substitution A G intron_variant PBCA-DE 1 10183612 10183612 single base substitution A G upstream_gene_variant PBCA-DE 1 10189707 10189707 insertion of <=200bp - T intron_variant PBCA-DE 1 10207875 10207875 single base substitution G A downstream_gene_variant PBCA-DE 1 10207875 10207875 single base substitution G A intron_variant PBCA-DE 1 10227500 10227502 deletion of <=200bp AAT - intron_variant PBCA-DE 1 10227500 10227502 deletion of <=200bp AAT - upstream_gene_variant PBCA-DE 1 10228411 10228411 single base substitution G T intron_variant PBCA-DE 1 10228411 10228411 single base substitution G T upstream_gene_variant PBCA-DE 1 10237082 10237082 insertion of <=200bp - AG intron_variant PBCA-DE 1 10237082 10237082 insertion of <=200bp - AG upstream_gene_variant PBCA-DE 1 10239731 10239731 single base substitution A G intron_variant PBCA-DE 1 10244953 10244953 deletion of <=200bp A - downstream_gene_variant PBCA-DE 1 10244961 10244961 insertion of <=200bp - A downstream_gene_variant PRAD-CA 1 10119273 10119273 single base substitution A C intron_variant PRAD-CA 1 10128704 10128704 single base substitution C T intron_variant PRAD-CA 1 10144782 10144782 single base substitution G A intron_variant PRAD-CA 1 10182001 10182001 single base substitution A G intron_variant PRAD-CA 1 10182001 10182001 single base substitution A G upstream_gene_variant PRAD-CA 1 10199059 10199059 single base substitution T C intron_variant PRAD-CA 1 10199148 10199148 single base substitution T C intron_variant PRAD-CA 1 10199149 10199149 single base substitution G T intron_variant PRAD-CA 1 10212045 10212045 single base substitution G A intron_variant PRAD-CA 1 10239347 10239347 single base substitution G T intron_variant PRAD-CA 1 10244476 10244476 single base substitution A C downstream_gene_variant PRAD-UK 1 10092977 10092977 single base substitution G T 5_prime_UTR_variant PRAD-UK 1 10092977 10092977 single base substitution G T upstream_gene_variant PRAD-UK 1 10095091 10095091 single base substitution C G intron_variant PRAD-UK 1 10104028 10104028 single base substitution G A intron_variant PRAD-UK 1 10119179 10119179 single base substitution T G intron_variant PRAD-UK 1 10130516 10130516 single base substitution A T intron_variant PRAD-UK 1 10131962 10131962 single base substitution A G intron_variant PRAD-UK 1 10146286 10146286 single base substitution C A intron_variant PRAD-UK 1 10146915 10146915 single base substitution T C intron_variant PRAD-UK 1 10147158 10147158 single base substitution C T intron_variant PRAD-UK 1 10161062 10161062 single base substitution T A exon_variant PRAD-UK 1 10161062 10161062 single base substitution T A intron_variant PRAD-UK 1 10163448 10163448 single base substitution T G downstream_gene_variant PRAD-UK 1 10163448 10163448 single base substitution T G intron_variant PRAD-UK 1 10163448 10163448 single base substitution T G upstream_gene_variant PRAD-UK 1 10178427 10178427 single base substitution G A intron_variant PRAD-UK 1 10178427 10178427 single base substitution G A upstream_gene_variant PRAD-UK 1 10217970 10217970 single base substitution T A intron_variant PRAD-UK 1 10217970 10217970 single base substitution T A upstream_gene_variant PRAD-UK 1 10218723 10218723 insertion of <=200bp - T intron_variant PRAD-UK 1 10223725 10223725 single base substitution C T intron_variant PRAD-UK 1 10245029 10245029 insertion of <=200bp - C downstream_gene_variant PRAD-US 1 10186877 10186877 single base substitution T C exon_variant PRAD-US 1 10186877 10186877 single base substitution T C missense_variant L20P 59T>C PRAD-US 1 10186877 10186877 single base substitution T C missense_variant L282P 845T>C PRAD-US 1 10186877 10186877 single base substitution T C missense_variant L398P 1193T>C PRAD-US 1 10186877 10186877 single base substitution T C missense_variant L527P 1580T>C PRAD-US 1 10186877 10186877 single base substitution T C upstream_gene_variant PRAD-US 1 10207138 10207138 single base substitution G A downstream_gene_variant PRAD-US 1 10207138 10207138 single base substitution G A missense_variant A616T 1846G>A PRAD-US 1 10207138 10207138 single base substitution G A missense_variant A732T 2194G>A PRAD-US 1 10207138 10207138 single base substitution G A missense_variant A861T 2581G>A PRAD-US 1 10231330 10231330 single base substitution G A downstream_gene_variant PRAD-US 1 10231330 10231330 single base substitution G A exon_variant PRAD-US 1 10231330 10231330 single base substitution G A synonymous_variant T1027T 3081G>A PRAD-US 1 10231330 10231330 single base substitution G A synonymous_variant T1156T 3468G>A PRAD-US 1 10231330 10231330 single base substitution G A synonymous_variant T911T 2733G>A READ-US 1 10132190 10132190 single base substitution G A 5_prime_UTR_variant READ-US 1 10132190 10132190 single base substitution G A synonymous_variant A43A 129G>A READ-US 1 10165584 10165584 single base substitution T G downstream_gene_variant READ-US 1 10165584 10165584 single base substitution T G missense_variant D197E 591T>G READ-US 1 10165584 10165584 single base substitution T G missense_variant D81E 243T>G READ-US 1 10165584 10165584 single base substitution T G upstream_gene_variant READ-US 1 10221247 10221247 single base substitution C T exon_variant READ-US 1 10221247 10221247 single base substitution C T missense_variant T1034M 3101C>T READ-US 1 10221247 10221247 single base substitution C T missense_variant T789M 2366C>T READ-US 1 10221247 10221247 single base substitution C T missense_variant T905M 2714C>T READ-US 1 10231208 10231208 single base substitution C T 3_prime_UTR_variant READ-US 1 10231208 10231208 single base substitution C T exon_variant READ-US 1 10231208 10231208 single base substitution C T stop_gained R1116* 3346C>T READ-US 1 10231208 10231208 single base substitution C T stop_gained R871* 2611C>T READ-US 1 10231208 10231208 single base substitution C T stop_gained R987* 2959C>T RECA-EU 1 10093236 10093236 single base substitution G A 5_prime_UTR_variant RECA-EU 1 10093236 10093236 single base substitution G A upstream_gene_variant RECA-EU 1 10102436 10102436 single base substitution G A intron_variant RECA-EU 1 10112320 10112320 single base substitution G A intron_variant RECA-EU 1 10114645 10114645 single base substitution G A intron_variant RECA-EU 1 10119974 10119974 single base substitution A T intron_variant RECA-EU 1 10141575 10141575 single base substitution C A intron_variant RECA-EU 1 10142128 10142128 single base substitution T A intron_variant RECA-EU 1 10144106 10144106 single base substitution C T intron_variant RECA-EU 1 10144633 10144633 single base substitution T C intron_variant RECA-EU 1 10147035 10147035 single base substitution G A intron_variant RECA-EU 1 10147471 10147471 single base substitution C G intron_variant RECA-EU 1 10153814 10153814 single base substitution G C intron_variant RECA-EU 1 10156839 10156839 single base substitution C T intron_variant RECA-EU 1 10156839 10156839 single base substitution C T upstream_gene_variant RECA-EU 1 10168536 10168536 single base substitution G C intron_variant RECA-EU 1 10168582 10168582 single base substitution A T intron_variant RECA-EU 1 10173673 10173673 single base substitution T G intron_variant RECA-EU 1 10182089 10182089 single base substitution G T exon_variant RECA-EU 1 10182089 10182089 single base substitution G T missense_variant Q258H 774G>T RECA-EU 1 10182089 10182089 single base substitution G T missense_variant Q374H 1122G>T RECA-EU 1 10182089 10182089 single base substitution G T missense_variant Q503H 1509G>T RECA-EU 1 10182089 10182089 single base substitution G T upstream_gene_variant RECA-EU 1 10207435 10207435 single base substitution T A downstream_gene_variant RECA-EU 1 10207435 10207435 single base substitution T A intron_variant RECA-EU 1 10213038 10213038 single base substitution T A intron_variant RECA-EU 1 10218318 10218318 single base substitution A T intron_variant RECA-EU 1 10218318 10218318 single base substitution A T upstream_gene_variant RECA-EU 1 10223147 10223147 single base substitution T G intron_variant RECA-EU 1 10228169 10228169 single base substitution T A intron_variant RECA-EU 1 10228169 10228169 single base substitution T A upstream_gene_variant RECA-EU 1 10242977 10242977 single base substitution A G downstream_gene_variant SKCA-BR 1 10093017 10093017 single base substitution C T 5_prime_UTR_variant SKCA-BR 1 10093017 10093017 single base substitution C T upstream_gene_variant SKCA-BR 1 10093204 10093204 single base substitution A G 5_prime_UTR_variant SKCA-BR 1 10093204 10093204 single base substitution A G upstream_gene_variant SKCA-BR 1 10098947 10098947 single base substitution G C intron_variant SKCA-BR 1 10101813 10101813 single base substitution G A intron_variant SKCA-BR 1 10103594 10103594 single base substitution C T intron_variant SKCA-BR 1 10104604 10104604 single base substitution C T intron_variant SKCA-BR 1 10104610 10104610 insertion of <=200bp - TCTTCCTTC intron_variant SKCA-BR 1 10107980 10107980 single base substitution A T intron_variant SKCA-BR 1 10108339 10108339 single base substitution T G intron_variant SKCA-BR 1 10109281 10109281 single base substitution T C intron_variant SKCA-BR 1 10111877 10111877 single base substitution G T intron_variant SKCA-BR 1 10114841 10114841 insertion of <=200bp - CT intron_variant SKCA-BR 1 10115024 10115024 single base substitution A T intron_variant SKCA-BR 1 10117301 10117301 single base substitution G A intron_variant SKCA-BR 1 10117869 10117869 single base substitution G A intron_variant SKCA-BR 1 10121486 10121487 deletion of <=200bp AT - intron_variant SKCA-BR 1 10121489 10121489 single base substitution T A intron_variant SKCA-BR 1 10129926 10129926 single base substitution G A intron_variant SKCA-BR 1 10130327 10130327 single base substitution C T intron_variant SKCA-BR 1 10130545 10130545 single base substitution T C intron_variant SKCA-BR 1 10131562 10131562 single base substitution C T intron_variant SKCA-BR 1 10132390 10132390 single base substitution T G intron_variant SKCA-BR 1 10134365 10134365 single base substitution C T downstream_gene_variant SKCA-BR 1 10134365 10134365 single base substitution C T intron_variant SKCA-BR 1 10140474 10140474 insertion of <=200bp - CA intron_variant SKCA-BR 1 10149759 10149759 insertion of <=200bp - AT intron_variant SKCA-BR 1 10149792 10149792 single base substitution C T intron_variant SKCA-BR 1 10149994 10149994 single base substitution C T intron_variant SKCA-BR 1 10150851 10150851 insertion of <=200bp - TTG intron_variant SKCA-BR 1 10150851 10150851 insertion of <=200bp - TTGTGTG intron_variant SKCA-BR 1 10151065 10151065 single base substitution A T intron_variant SKCA-BR 1 10152493 10152493 single base substitution G A intron_variant SKCA-BR 1 10154291 10154291 single base substitution T G intron_variant SKCA-BR 1 10154461 10154461 single base substitution C T intron_variant SKCA-BR 1 10156596 10156596 single base substitution C T intron_variant SKCA-BR 1 10156596 10156596 single base substitution C T upstream_gene_variant SKCA-BR 1 10158446 10158446 single base substitution G T intron_variant SKCA-BR 1 10158446 10158446 single base substitution G T upstream_gene_variant SKCA-BR 1 10163690 10163690 insertion of <=200bp - GT downstream_gene_variant SKCA-BR 1 10163690 10163690 insertion of <=200bp - GT intron_variant SKCA-BR 1 10163690 10163690 insertion of <=200bp - GT upstream_gene_variant SKCA-BR 1 10165096 10165096 single base substitution C T downstream_gene_variant SKCA-BR 1 10165096 10165096 single base substitution C T intron_variant SKCA-BR 1 10165096 10165096 single base substitution C T upstream_gene_variant SKCA-BR 1 10165301 10165301 single base substitution T G downstream_gene_variant SKCA-BR 1 10165301 10165301 single base substitution T G intron_variant SKCA-BR 1 10165301 10165301 single base substitution T G upstream_gene_variant SKCA-BR 1 10168079 10168079 single base substitution A G downstream_gene_variant SKCA-BR 1 10168079 10168079 single base substitution A G intron_variant SKCA-BR 1 10168994 10168994 single base substitution C T intron_variant SKCA-BR 1 10170322 10170322 single base substitution G A intron_variant SKCA-BR 1 10172548 10172548 single base substitution C T intron_variant SKCA-BR 1 10173101 10173101 single base substitution G T intron_variant SKCA-BR 1 10177133 10177133 single base substitution C T intron_variant SKCA-BR 1 10177133 10177133 single base substitution C T upstream_gene_variant SKCA-BR 1 10177831 10177831 single base substitution C T intron_variant SKCA-BR 1 10177831 10177831 single base substitution C T upstream_gene_variant SKCA-BR 1 10179775 10179775 single base substitution T A intron_variant SKCA-BR 1 10179775 10179775 single base substitution T A upstream_gene_variant SKCA-BR 1 10180406 10180406 single base substitution C T intron_variant SKCA-BR 1 10180406 10180406 single base substitution C T upstream_gene_variant SKCA-BR 1 10181103 10181103 single base substitution C T intron_variant SKCA-BR 1 10181103 10181103 single base substitution C T upstream_gene_variant SKCA-BR 1 10181821 10181821 single base substitution C T intron_variant SKCA-BR 1 10181821 10181821 single base substitution C T upstream_gene_variant SKCA-BR 1 10185152 10185152 single base substitution C T intron_variant SKCA-BR 1 10185152 10185152 single base substitution C T upstream_gene_variant SKCA-BR 1 10186033 10186033 single base substitution C T intron_variant SKCA-BR 1 10186033 10186033 single base substitution C T upstream_gene_variant SKCA-BR 1 10190884 10190884 single base substitution A T intron_variant SKCA-BR 1 10193944 10193944 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 1 10193944 10193944 insertion of <=200bp - CA intron_variant SKCA-BR 1 10201645 10201645 single base substitution T A intron_variant SKCA-BR 1 10203988 10203988 single base substitution T C intron_variant SKCA-BR 1 10204802 10204808 deletion of <=200bp AAAAAAG - intron_variant SKCA-BR 1 10208319 10208319 single base substitution C T downstream_gene_variant SKCA-BR 1 10208319 10208319 single base substitution C T intron_variant SKCA-BR 1 10208768 10208768 single base substitution T C downstream_gene_variant SKCA-BR 1 10208768 10208768 single base substitution T C intron_variant SKCA-BR 1 10210450 10210450 single base substitution C T downstream_gene_variant SKCA-BR 1 10210450 10210450 single base substitution C T intron_variant SKCA-BR 1 10211061 10211061 single base substitution T A intron_variant SKCA-BR 1 10222848 10222848 single base substitution C T intron_variant SKCA-BR 1 10223995 10223995 single base substitution G A intron_variant SKCA-BR 1 10226999 10226999 insertion of <=200bp - TCACA intron_variant SKCA-BR 1 10226999 10226999 insertion of <=200bp - TCACA upstream_gene_variant SKCA-BR 1 10227505 10227505 single base substitution T G intron_variant SKCA-BR 1 10227505 10227505 single base substitution T G upstream_gene_variant SKCA-BR 1 10229553 10229553 single base substitution G A intron_variant SKCA-BR 1 10229553 10229553 single base substitution G A upstream_gene_variant SKCA-BR 1 10233458 10233458 single base substitution T G downstream_gene_variant SKCA-BR 1 10233458 10233458 single base substitution T G intron_variant SKCA-BR 1 10235537 10235537 single base substitution A G downstream_gene_variant SKCA-BR 1 10235537 10235537 single base substitution A G intron_variant SKCA-BR 1 10235537 10235537 single base substitution A G upstream_gene_variant SKCA-BR 1 10235569 10235569 single base substitution C T downstream_gene_variant SKCA-BR 1 10235569 10235569 single base substitution C T intron_variant SKCA-BR 1 10235569 10235569 single base substitution C T upstream_gene_variant SKCA-BR 1 10239535 10239535 single base substitution C T exon_variant SKCA-BR 1 10239535 10239535 single base substitution C T synonymous_variant D1013D 3039C>T SKCA-BR 1 10239535 10239535 single base substitution C T synonymous_variant D1125D 3375C>T SKCA-BR 1 10239535 10239535 single base substitution C T synonymous_variant D1254D 3762C>T SKCA-BR 1 10239784 10239784 single base substitution C T intron_variant SKCA-BR 1 10241126 10241126 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 10241126 10241126 single base substitution C T downstream_gene_variant SKCA-BR 1 10241317 10241317 single base substitution C T downstream_gene_variant SKCA-BR 1 10241341 10241341 single base substitution A G downstream_gene_variant SKCA-BR 1 10241345 10241345 single base substitution C G downstream_gene_variant SKCA-BR 1 10241349 10241349 single base substitution T G downstream_gene_variant SKCA-BR 1 10241921 10241923 deletion of <=200bp TTA - downstream_gene_variant SKCA-BR 1 10243095 10243095 single base substitution C T downstream_gene_variant SKCA-BR 1 10243500 10243500 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 1 10246242 10246242 insertion of <=200bp - CGG downstream_gene_variant SKCM-US 1 10155574 10155574 single base substitution C T 5_prime_UTR_variant SKCM-US 1 10155574 10155574 single base substitution C T synonymous_variant P89P 267C>T SKCM-US 1 10161224 10161224 single base substitution C T exon_variant SKCM-US 1 10161224 10161224 single base substitution C T stop_gained R136* 406C>T SKCM-US 1 10161224 10161224 single base substitution C T stop_gained R20* 58C>T SKCM-US 1 10166317 10166317 single base substitution C T downstream_gene_variant SKCM-US 1 10166317 10166317 single base substitution C T intron_variant SKCM-US 1 10166317 10166317 single base substitution C T missense_variant P291L 872C>T SKCM-US 1 10166317 10166317 single base substitution C T upstream_gene_variant SKCM-US 1 10166332 10166332 single base substitution C T downstream_gene_variant SKCM-US 1 10166332 10166332 single base substitution C T intron_variant SKCM-US 1 10166332 10166332 single base substitution C T missense_variant P296L 887C>T SKCM-US 1 10166332 10166332 single base substitution C T upstream_gene_variant SKCM-US 1 10166366 10166366 single base substitution C T downstream_gene_variant SKCM-US 1 10166366 10166366 single base substitution C T intron_variant SKCM-US 1 10166366 10166366 single base substitution C T synonymous_variant S307S 921C>T SKCM-US 1 10166366 10166366 single base substitution C T upstream_gene_variant SKCM-US 1 10182103 10182103 single base substitution C T exon_variant SKCM-US 1 10182103 10182103 single base substitution C T missense_variant T1I 2C>T SKCM-US 1 10182103 10182103 single base substitution C T missense_variant T263I 788C>T SKCM-US 1 10182103 10182103 single base substitution C T missense_variant T379I 1136C>T SKCM-US 1 10182103 10182103 single base substitution C T missense_variant T508I 1523C>T SKCM-US 1 10186901 10186901 single base substitution C T exon_variant SKCM-US 1 10186901 10186901 single base substitution C T missense_variant S28F 83C>T SKCM-US 1 10186901 10186901 single base substitution C T missense_variant S290F 869C>T SKCM-US 1 10186901 10186901 single base substitution C T missense_variant S406F 1217C>T SKCM-US 1 10186901 10186901 single base substitution C T missense_variant S535F 1604C>T SKCM-US 1 10186901 10186901 single base substitution C T upstream_gene_variant SKCM-US 1 10190589 10190589 single base substitution C T exon_variant SKCM-US 1 10190589 10190589 single base substitution C T intron_variant SKCM-US 1 10190589 10190589 single base substitution C T missense_variant S331F 992C>T SKCM-US 1 10190589 10190589 single base substitution C T missense_variant S447F 1340C>T SKCM-US 1 10190589 10190589 single base substitution C T missense_variant S576F 1727C>T SKCM-US 1 10195090 10195090 single base substitution C T downstream_gene_variant SKCM-US 1 10195090 10195090 single base substitution C T exon_variant SKCM-US 1 10195090 10195090 single base substitution C T synonymous_variant F144F 432C>T SKCM-US 1 10195090 10195090 single base substitution C T synonymous_variant F445F 1335C>T SKCM-US 1 10195090 10195090 single base substitution C T synonymous_variant F561F 1683C>T SKCM-US 1 10195090 10195090 single base substitution C T synonymous_variant F690F 2070C>T SKCM-US 1 10195157 10195157 single base substitution C T downstream_gene_variant SKCM-US 1 10195157 10195157 single base substitution C T exon_variant SKCM-US 1 10195157 10195157 single base substitution C T missense_variant H167Y 499C>T SKCM-US 1 10195157 10195157 single base substitution C T missense_variant H468Y 1402C>T SKCM-US 1 10195157 10195157 single base substitution C T missense_variant H584Y 1750C>T SKCM-US 1 10195157 10195157 single base substitution C T missense_variant H713Y 2137C>T SKCM-US 1 10197223 10197223 single base substitution C T downstream_gene_variant SKCM-US 1 10197223 10197223 single base substitution C T intron_variant SKCM-US 1 10197223 10197223 single base substitution C T missense_variant R229C 685C>T SKCM-US 1 10197223 10197223 single base substitution C T missense_variant R530C 1588C>T SKCM-US 1 10197223 10197223 single base substitution C T missense_variant R646C 1936C>T SKCM-US 1 10197223 10197223 single base substitution C T missense_variant R775C 2323C>T SKCM-US 1 10205044 10205044 single base substitution C T exon_variant SKCM-US 1 10205044 10205044 single base substitution C T missense_variant P258S 772C>T SKCM-US 1 10205044 10205044 single base substitution C T missense_variant P559S 1675C>T SKCM-US 1 10205044 10205044 single base substitution C T missense_variant P675S 2023C>T SKCM-US 1 10205044 10205044 single base substitution C T missense_variant P804S 2410C>T SKCM-US 1 10211599 10211599 single base substitution C T missense_variant S724F 2171C>T SKCM-US 1 10211599 10211599 single base substitution C T missense_variant S840F 2519C>T SKCM-US 1 10211599 10211599 single base substitution C T missense_variant S969F 2906C>T SKCM-US 1 10218481 10218481 single base substitution C T exon_variant SKCM-US 1 10218481 10218481 single base substitution C T synonymous_variant T753T 2259C>T SKCM-US 1 10218481 10218481 single base substitution C T synonymous_variant T869T 2607C>T SKCM-US 1 10218481 10218481 single base substitution C T synonymous_variant T998T 2994C>T SKCM-US 1 10228227 10228227 single base substitution C T 3_prime_UTR_variant SKCM-US 1 10228227 10228227 single base substitution C T stop_gained Q1078* 3232C>T SKCM-US 1 10228227 10228227 single base substitution C T stop_gained Q833* 2497C>T SKCM-US 1 10228227 10228227 single base substitution C T stop_gained Q949* 2845C>T SKCM-US 1 10228227 10228227 single base substitution C T upstream_gene_variant SKCM-US 1 10228260 10228260 single base substitution C T 3_prime_UTR_variant SKCM-US 1 10228260 10228260 single base substitution C T synonymous_variant L1089L 3265C>T SKCM-US 1 10228260 10228260 single base substitution C T synonymous_variant L844L 2530C>T SKCM-US 1 10228260 10228260 single base substitution C T synonymous_variant L960L 2878C>T SKCM-US 1 10228260 10228260 single base substitution C T upstream_gene_variant SKCM-US 1 10231363 10231363 single base substitution C T downstream_gene_variant SKCM-US 1 10231363 10231363 single base substitution C T exon_variant SKCM-US 1 10231363 10231363 single base substitution C T synonymous_variant F1038F 3114C>T SKCM-US 1 10231363 10231363 single base substitution C T synonymous_variant F1167F 3501C>T SKCM-US 1 10231363 10231363 single base substitution C T synonymous_variant F922F 2766C>T SKCM-US 1 10240011 10240011 single base substitution C G downstream_gene_variant SKCM-US 1 10240011 10240011 single base substitution C G exon_variant SKCM-US 1 10240011 10240011 single base substitution C G missense_variant H1061Q 3183C>G SKCM-US 1 10240011 10240011 single base substitution C G missense_variant H1173Q 3519C>G SKCM-US 1 10240011 10240011 single base substitution C G missense_variant H1302Q 3906C>G STAD-US 1 10132092 10132092 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant STAD-US 1 10132092 10132092 single base substitution C T missense_variant R11W 31C>T STAD-US 1 10155571 10155571 single base substitution G A 5_prime_UTR_variant STAD-US 1 10155571 10155571 single base substitution G A synonymous_variant S88S 264G>A STAD-US 1 10155592 10155592 single base substitution G A 5_prime_UTR_variant STAD-US 1 10155592 10155592 single base substitution G A synonymous_variant T95T 285G>A STAD-US 1 10163014 10163014 single base substitution C A exon_variant STAD-US 1 10163014 10163014 single base substitution C A synonymous_variant S148S 444C>A STAD-US 1 10163014 10163014 single base substitution C A synonymous_variant S32S 96C>A STAD-US 1 10163014 10163014 single base substitution C A upstream_gene_variant STAD-US 1 10165777 10165777 single base substitution T A downstream_gene_variant STAD-US 1 10165777 10165777 single base substitution T A missense_variant S146T 436T>A STAD-US 1 10165777 10165777 single base substitution T A missense_variant S262T 784T>A STAD-US 1 10165777 10165777 single base substitution T A upstream_gene_variant STAD-US 1 10166465 10166465 single base substitution G A downstream_gene_variant STAD-US 1 10166465 10166465 single base substitution G A intron_variant STAD-US 1 10166465 10166465 single base substitution G A synonymous_variant A340A 1020G>A STAD-US 1 10166465 10166465 single base substitution G A upstream_gene_variant STAD-US 1 10166513 10166513 single base substitution C T downstream_gene_variant STAD-US 1 10166513 10166513 single base substitution C T intron_variant STAD-US 1 10166513 10166513 single base substitution C T synonymous_variant L356L 1068C>T STAD-US 1 10166513 10166513 single base substitution C T upstream_gene_variant STAD-US 1 10166514 10166514 single base substitution G A downstream_gene_variant STAD-US 1 10166514 10166514 single base substitution G A intron_variant STAD-US 1 10166514 10166514 single base substitution G A missense_variant A357T 1069G>A STAD-US 1 10166514 10166514 single base substitution G A upstream_gene_variant STAD-US 1 10179613 10179613 single base substitution C T exon_variant STAD-US 1 10179613 10179613 single base substitution C T missense_variant R216C 646C>T STAD-US 1 10179613 10179613 single base substitution C T missense_variant R332C 994C>T STAD-US 1 10179613 10179613 single base substitution C T missense_variant R461C 1381C>T STAD-US 1 10179613 10179613 single base substitution C T upstream_gene_variant STAD-US 1 10190583 10190583 single base substitution C T exon_variant STAD-US 1 10190583 10190583 single base substitution C T intron_variant STAD-US 1 10190583 10190583 single base substitution C T missense_variant P329L 986C>T STAD-US 1 10190583 10190583 single base substitution C T missense_variant P445L 1334C>T STAD-US 1 10190583 10190583 single base substitution C T missense_variant P574L 1721C>T STAD-US 1 10190819 10190819 deletion of <=200bp A - exon_variant STAD-US 1 10190819 10190819 deletion of <=200bp A - frameshift_variant E375 STAD-US 1 10190819 10190819 deletion of <=200bp A - frameshift_variant E491 STAD-US 1 10190819 10190819 deletion of <=200bp A - frameshift_variant E620 STAD-US 1 10190819 10190819 deletion of <=200bp A - frameshift_variant E74 STAD-US 1 10195195 10195195 single base substitution G A downstream_gene_variant STAD-US 1 10195195 10195195 single base substitution G A exon_variant STAD-US 1 10195195 10195195 single base substitution G A synonymous_variant T179T 537G>A STAD-US 1 10195195 10195195 single base substitution G A synonymous_variant T480T 1440G>A STAD-US 1 10195195 10195195 single base substitution G A synonymous_variant T596T 1788G>A STAD-US 1 10195195 10195195 single base substitution G A synonymous_variant T725T 2175G>A STAD-US 1 10197220 10197220 single base substitution C T downstream_gene_variant STAD-US 1 10197220 10197220 single base substitution C T intron_variant STAD-US 1 10197220 10197220 single base substitution C T missense_variant R228C 682C>T STAD-US 1 10197220 10197220 single base substitution C T missense_variant R529C 1585C>T STAD-US 1 10197220 10197220 single base substitution C T missense_variant R645C 1933C>T STAD-US 1 10197220 10197220 single base substitution C T missense_variant R774C 2320C>T STAD-US 1 10197233 10197233 single base substitution G A downstream_gene_variant STAD-US 1 10197233 10197233 single base substitution G A intron_variant STAD-US 1 10197233 10197233 single base substitution G A missense_variant R232H 695G>A STAD-US 1 10197233 10197233 single base substitution G A missense_variant R533H 1598G>A STAD-US 1 10197233 10197233 single base substitution G A missense_variant R649H 1946G>A STAD-US 1 10197233 10197233 single base substitution G A missense_variant R778H 2333G>A STAD-US 1 10207065 10207065 single base substitution C T downstream_gene_variant STAD-US 1 10207065 10207065 single base substitution C T synonymous_variant D591D 1773C>T STAD-US 1 10207065 10207065 single base substitution C T synonymous_variant D707D 2121C>T STAD-US 1 10207065 10207065 single base substitution C T synonymous_variant D836D 2508C>T STAD-US 1 10211398 10211398 single base substitution C T missense_variant A657V 1970C>T STAD-US 1 10211398 10211398 single base substitution C T missense_variant A773V 2318C>T STAD-US 1 10211398 10211398 single base substitution C T missense_variant A902V 2705C>T STAD-US 1 10211616 10211616 single base substitution A G missense_variant T730A 2188A>G STAD-US 1 10211616 10211616 single base substitution A G missense_variant T846A 2536A>G STAD-US 1 10211616 10211616 single base substitution A G missense_variant T975A 2923A>G STAD-US 1 10231209 10231209 single base substitution G A 3_prime_UTR_variant STAD-US 1 10231209 10231209 single base substitution G A exon_variant STAD-US 1 10231209 10231209 single base substitution G A missense_variant R1116Q 3347G>A STAD-US 1 10231209 10231209 single base substitution G A missense_variant R871Q 2612G>A STAD-US 1 10231209 10231209 single base substitution G A missense_variant R987Q 2960G>A STAD-US 1 10231281 10231281 single base substitution A C downstream_gene_variant STAD-US 1 10231281 10231281 single base substitution A C exon_variant STAD-US 1 10231281 10231281 single base substitution A C missense_variant N1011T 3032A>C STAD-US 1 10231281 10231281 single base substitution A C missense_variant N1140T 3419A>C STAD-US 1 10231281 10231281 single base substitution A C missense_variant N895T 2684A>C STAD-US 1 10231304 10231304 single base substitution C G downstream_gene_variant STAD-US 1 10231304 10231304 single base substitution C G exon_variant STAD-US 1 10231304 10231304 single base substitution C G missense_variant P1019A 3055C>G STAD-US 1 10231304 10231304 single base substitution C G missense_variant P1148A 3442C>G STAD-US 1 10231304 10231304 single base substitution C G missense_variant P903A 2707C>G STAD-US 1 10238793 10238793 single base substitution T G exon_variant STAD-US 1 10238793 10238793 single base substitution T G missense_variant L1077R 3230T>G STAD-US 1 10238793 10238793 single base substitution T G missense_variant L1206R 3617T>G STAD-US 1 10238793 10238793 single base substitution T G missense_variant L961R 2882T>G STAD-US 1 10238793 10238793 single base substitution T G upstream_gene_variant STAD-US 1 10239484 10239484 single base substitution G A exon_variant STAD-US 1 10239484 10239484 single base substitution G A missense_variant M1108I 3324G>A STAD-US 1 10239484 10239484 single base substitution G A missense_variant M1237I 3711G>A STAD-US 1 10239484 10239484 single base substitution G A missense_variant M996I 2988G>A THCA-SA 1 10093070 10093070 single base substitution G C 5_prime_UTR_variant THCA-SA 1 10093070 10093070 single base substitution G C upstream_gene_variant THCA-SA 1 10093457 10093457 single base substitution C T 5_prime_UTR_variant THCA-SA 1 10093457 10093457 single base substitution C T upstream_gene_variant THCA-SA 1 10190575 10190575 single base substitution G C exon_variant THCA-SA 1 10190575 10190575 single base substitution G C intron_variant THCA-SA 1 10190575 10190575 single base substitution G C missense_variant L326F 978G>C THCA-SA 1 10190575 10190575 single base substitution G C missense_variant L442F 1326G>C THCA-SA 1 10190575 10190575 single base substitution G C missense_variant L571F 1713G>C THCA-SA 1 10218439 10218439 single base substitution T C exon_variant THCA-SA 1 10218439 10218439 single base substitution T C synonymous_variant S739S 2217T>C THCA-SA 1 10218439 10218439 single base substitution T C synonymous_variant S855S 2565T>C THCA-SA 1 10218439 10218439 single base substitution T C synonymous_variant S984S 2952T>C THCA-SA 1 10240094 10240094 single base substitution C T 3_prime_UTR_variant THCA-SA 1 10240094 10240094 single base substitution C T downstream_gene_variant THCA-US 1 10209302 10209302 single base substitution T C downstream_gene_variant THCA-US 1 10209302 10209302 single base substitution T C synonymous_variant Y639Y 1917T>C THCA-US 1 10209302 10209302 single base substitution T C synonymous_variant Y755Y 2265T>C THCA-US 1 10209302 10209302 single base substitution T C synonymous_variant Y884Y 2652T>C UCEC-US 1 10155592 10155592 single base substitution G A 5_prime_UTR_variant UCEC-US 1 10155592 10155592 single base substitution G A synonymous_variant T95T 285G>A UCEC-US 1 10161233 10161233 single base substitution A C exon_variant UCEC-US 1 10161233 10161233 single base substitution A C missense_variant K139Q 415A>C UCEC-US 1 10161233 10161233 single base substitution A C missense_variant K23Q 67A>C UCEC-US 1 10163147 10163147 single base substitution G T exon_variant UCEC-US 1 10163147 10163147 single base substitution G T stop_gained E193* 577G>T UCEC-US 1 10163147 10163147 single base substitution G T stop_gained E77* 229G>T UCEC-US 1 10163147 10163147 single base substitution G T upstream_gene_variant UCEC-US 1 10166437 10166437 single base substitution G A downstream_gene_variant UCEC-US 1 10166437 10166437 single base substitution G A intron_variant UCEC-US 1 10166437 10166437 single base substitution G A missense_variant R331H 992G>A UCEC-US 1 10166437 10166437 single base substitution G A upstream_gene_variant UCEC-US 1 10166441 10166441 single base substitution C T downstream_gene_variant UCEC-US 1 10166441 10166441 single base substitution C T intron_variant UCEC-US 1 10166441 10166441 single base substitution C T synonymous_variant P332P 996C>T UCEC-US 1 10166441 10166441 single base substitution C T upstream_gene_variant UCEC-US 1 10166449 10166449 single base substitution T C downstream_gene_variant UCEC-US 1 10166449 10166449 single base substitution T C intron_variant UCEC-US 1 10166449 10166449 single base substitution T C missense_variant V335A 1004T>C UCEC-US 1 10166449 10166449 single base substitution T C upstream_gene_variant UCEC-US 1 10189462 10189462 single base substitution C T exon_variant UCEC-US 1 10189462 10189462 single base substitution C T missense_variant L306F 916C>T UCEC-US 1 10189462 10189462 single base substitution C T missense_variant L422F 1264C>T UCEC-US 1 10189462 10189462 single base substitution C T missense_variant L44F 130C>T UCEC-US 1 10189462 10189462 single base substitution C T missense_variant L551F 1651C>T UCEC-US 1 10190565 10190565 single base substitution C A exon_variant UCEC-US 1 10190565 10190565 single base substitution C A intron_variant UCEC-US 1 10190565 10190565 single base substitution C A missense_variant S323Y 968C>A UCEC-US 1 10190565 10190565 single base substitution C A missense_variant S439Y 1316C>A UCEC-US 1 10190565 10190565 single base substitution C A missense_variant S568Y 1703C>A UCEC-US 1 10190663 10190663 single base substitution G A exon_variant UCEC-US 1 10190663 10190663 single base substitution G A intron_variant UCEC-US 1 10190663 10190663 single base substitution G A missense_variant A356T 1066G>A UCEC-US 1 10190663 10190663 single base substitution G A missense_variant A472T 1414G>A UCEC-US 1 10190663 10190663 single base substitution G A missense_variant A601T 1801G>A UCEC-US 1 10190802 10190802 single base substitution G A exon_variant UCEC-US 1 10190802 10190802 single base substitution G A synonymous_variant G369G 1107G>A UCEC-US 1 10190802 10190802 single base substitution G A synonymous_variant G485G 1455G>A UCEC-US 1 10190802 10190802 single base substitution G A synonymous_variant G614G 1842G>A UCEC-US 1 10190802 10190802 single base substitution G A synonymous_variant G68G 204G>A UCEC-US 1 10190865 10190865 single base substitution C T exon_variant UCEC-US 1 10190865 10190865 single base substitution C T synonymous_variant L390L 1170C>T UCEC-US 1 10190865 10190865 single base substitution C T synonymous_variant L506L 1518C>T UCEC-US 1 10190865 10190865 single base substitution C T synonymous_variant L635L 1905C>T UCEC-US 1 10190865 10190865 single base substitution C T synonymous_variant L89L 267C>T UCEC-US 1 10195147 10195147 single base substitution G A downstream_gene_variant UCEC-US 1 10195147 10195147 single base substitution G A exon_variant UCEC-US 1 10195147 10195147 single base substitution G A synonymous_variant T163T 489G>A UCEC-US 1 10195147 10195147 single base substitution G A synonymous_variant T464T 1392G>A UCEC-US 1 10195147 10195147 single base substitution G A synonymous_variant T580T 1740G>A UCEC-US 1 10195147 10195147 single base substitution G A synonymous_variant T709T 2127G>A UCEC-US 1 10205028 10205028 single base substitution C A exon_variant UCEC-US 1 10205028 10205028 single base substitution C A missense_variant S252R 756C>A UCEC-US 1 10205028 10205028 single base substitution C A missense_variant S553R 1659C>A UCEC-US 1 10205028 10205028 single base substitution C A missense_variant S669R 2007C>A UCEC-US 1 10205028 10205028 single base substitution C A missense_variant S798R 2394C>A UCEC-US 1 10205065 10205065 single base substitution G A exon_variant UCEC-US 1 10205065 10205065 single base substitution G A missense_variant E265K 793G>A UCEC-US 1 10205065 10205065 single base substitution G A missense_variant E566K 1696G>A UCEC-US 1 10205065 10205065 single base substitution G A missense_variant E682K 2044G>A UCEC-US 1 10205065 10205065 single base substitution G A missense_variant E811K 2431G>A UCEC-US 1 10207055 10207055 single base substitution G A downstream_gene_variant UCEC-US 1 10207055 10207055 single base substitution G A missense_variant G588D 1763G>A UCEC-US 1 10207055 10207055 single base substitution G A missense_variant G704D 2111G>A UCEC-US 1 10207055 10207055 single base substitution G A missense_variant G833D 2498G>A UCEC-US 1 10207095 10207095 single base substitution T G downstream_gene_variant UCEC-US 1 10207095 10207095 single base substitution T G missense_variant F601L 1803T>G UCEC-US 1 10207095 10207095 single base substitution T G missense_variant F717L 2151T>G UCEC-US 1 10207095 10207095 single base substitution T G missense_variant F846L 2538T>G UCEC-US 1 10209262 10209262 single base substitution C A downstream_gene_variant UCEC-US 1 10209262 10209262 single base substitution C A stop_gained S626* 1877C>A UCEC-US 1 10209262 10209262 single base substitution C A stop_gained S742* 2225C>A UCEC-US 1 10209262 10209262 single base substitution C A stop_gained S871* 2612C>A UCEC-US 1 10218427 10218427 single base substitution C T exon_variant UCEC-US 1 10218427 10218427 single base substitution C T synonymous_variant T735T 2205C>T UCEC-US 1 10218427 10218427 single base substitution C T synonymous_variant T851T 2553C>T UCEC-US 1 10218427 10218427 single base substitution C T synonymous_variant T980T 2940C>T UCEC-US 1 10240005 10240005 single base substitution C T exon_variant UCEC-US 1 10240005 10240005 single base substitution C T synonymous_variant S1059S 3177C>T UCEC-US 1 10240005 10240005 single base substitution C T synonymous_variant S1171S 3513C>T UCEC-US 1 10240005 10240005 single base substitution C T synonymous_variant S1300S 3900C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-B0-5812-01 COSM462479 c.491A>C p.K164T Substitution - Missense 1:10103003-10103003 + 1N42-VS-1T42 COSM4975551 c.2867C>T p.S956F Substitution - Missense 1:10168191-10168191 + TCGA-CH-5788-01 COSM674705 c.2581G>A p.A861T Substitution - Missense 1:10147080-10147080 + CRC-11T COSM1231578 c.3763C>T p.R1255C Substitution - Missense 1:10179478-10179478 + TCGA-HU-A4H3-01 COSM893024 c.285G>A p.T95T Substitution - coding silent 1:10095534-10095534 + RK025_C COSM1626251 c.2444G>T p.R815L Substitution - Missense 1:10145020-10145020 + T2932 COSM4738755 c.3784C>T p.L1262L Substitution - coding silent 1:10179499-10179499 + TCGA-HF-7132-01 COSM180498 c.31C>T p.R11W Substitution - Missense 1:10072034-10072034 + 8065639 COSM3384962 c.3142T>A p.S1048T Substitution - Missense 1:10178647-10178647 + TCGA-EE-A17X-06 COSM3470356 c.1750C>T p.H584Y Substitution - Missense 1:10135099-10135099 + 6115114 COSM5559794 c.2530C>G p.L844V Substitution - Missense 1:10147029-10147029 + PT13 COSM5895538 c.577G>A p.E193K Substitution - Missense 1:10103089-10103089 + TCGA-BP-5182-01 COSM462481 c.1112G>A p.R371K Substitution - Missense 1:10106499-10106499 + IGROV-1 COSM1667129 c.2461C>T p.Q821* Substitution - Nonsense 1:10151483-10151483 + TCGA-BS-A0UV-01 COSM893060 c.2612C>A p.S871* Substitution - Nonsense 1:10149204-10149204 + T3059 COSM4738753 c.1222G>A p.D408N Substitution - Missense 1:10126848-10126848 + TCGA-HU-A4H3-01 COSM893023 c.285G>A p.T95T Substitution - coding silent 1:10095534-10095534 + STC291 COSM5052329 c.461C>A p.S154Y Substitution - Missense 1:10102973-10102973 + CSB7 COSM5025178 c.3530C>T p.S1177F Substitution - Missense 1:10178648-10178648 + sysucc-1163T COSM5458163 c.2408C>T p.A803V Substitution - Missense 1:10151430-10151430 + Pat_70_A COSM3862045 c.2845C>T p.Q949* Substitution - Nonsense 1:10168169-10168169 + 6115114 COSM5559802 c.2545C>T p.L849F Substitution - Missense 1:10147044-10147044 + EOPC-01_tumor COSM1332024 c.1144G>A p.A382T Substitution - Missense 1:10106531-10106531 + CRC-11T COSM1231579 c.3376C>T p.R1126C Substitution - Missense 1:10179478-10179478 + ESCC_162 COSM5647759 c.3116C>T p.A1039V Substitution - Missense 1:10171307-10171307 + C086 COSM893047 c.1905C>T p.L635L Substitution - coding silent 1:10130807-10130807 + 169T COSM1725027 c.2954_2955insG p.F986fs*3 Insertion - Frameshift 1:10158383-10158384 + CCK81 COSM1953573 c.2608A>G p.I870V Substitution - Missense 1:10158424-10158424 + TCGA-AA-A010-01 COSM286242 c.577G>T p.E193* Substitution - Nonsense 1:10103089-10103089 + LUAD_E00522 COSM352780 c.84A>T p.P28P Substitution - coding silent 1:10072087-10072087 + PT51 COSM5937977 c.3733G>A p.V1245M Substitution - Missense 1:10179448-10179448 + C086 COSM893048 c.1518C>T p.L506L Substitution - coding silent 1:10130807-10130807 + AA2051 COSM4169131 c.629_630insA p.M211fs*9 Insertion - Frameshift 1:10105564-10105565 + C086 COSM5541277 c.3034C>T p.P1012S Substitution - Missense 1:10171225-10171225 + TCGA-UB-A7MB-01 COSM4930628 c.2699T>C p.M900T Substitution - Missense 1:10161174-10161174 + HCC063T COSM5812324 c.580+3A>T p.? Unknown 1:10103095-10103095 + TCGA-AR-A250-01 COSM1472335 c.407G>A p.R136Q Substitution - Missense 1:10101167-10101167 + TCGA-AZ-4315-01 COSM1332017 c.696T>C p.I232I Substitution - coding silent 1:10105631-10105631 + TCGA-B5-A11E-01 COSM893047 c.1905C>T p.L635L Substitution - coding silent 1:10130807-10130807 + TCGA-G4-6628-01 COSM1332018 c.726_727delTC p.L244fs*26 Deletion - Frameshift 1:10105661-10105662 + TCGA-AC-A23H-01 COSM3801053 c.461C>G p.S154C Substitution - Missense 1:10102973-10102973 + ESCC_55 COSM5631617 c.290C>G p.S97C Substitution - Missense 1:10095539-10095539 + TCGA-B0-5812-01 COSM462480 c.491A>C p.K164T Substitution - Missense 1:10103003-10103003 + LUAD-YKER9 COSM352047 c.1362G>A p.R454R Substitution - coding silent 1:10130553-10130553 + TCGA-AP-A059-01 COSM893040 c.1264C>T p.L422F Substitution - Missense 1:10129404-10129404 + Pat_02_B COSM5842885 c.893G>A p.R298H Substitution - Missense 1:10106280-10106280 + TCGA-BR-8487-01 COSM4019940 c.3617T>G p.L1206R Substitution - Missense 1:10178735-10178735 + 5T COSM107955 c.197C>T p.P66L Substitution - Missense 1:10072200-10072200 + H441 COSM1193580 c.3711G>T p.M1237I Substitution - Missense 1:10179426-10179426 + LIM2405 COSM4641395 c.3447C>T p.S1149S Substitution - coding silent 1:10179549-10179549 + TCGA-EE-A181-06 COSM3470336 c.887C>T p.P296L Substitution - Missense 1:10106274-10106274 + TCGA-BR-4184-01 COSM4019882 c.264G>A p.S88S Substitution - coding silent 1:10095513-10095513 + TCGA-IR-A3LK-01 COSM4818034 c.518G>A p.R173Q Substitution - Missense 1:10103030-10103030 + TCGA-BR-4361-01 COSM4019913 c.2536A>G p.T846A Substitution - Missense 1:10151558-10151558 + PTC-7C COSM4142061 c.1000A>C p.T334P Substitution - Missense 1:10106387-10106387 + C0021T COSM4140711 c.1509G>T p.Q503H Substitution - Missense 1:10122031-10122031 + AOCS-084-1-X COSM4004623 c.3261C>T p.L1087L Substitution - coding silent 1:10168198-10168198 + 42T COSM3709978 c.1587C>A p.L529L Substitution - coding silent 1:10132431-10132431 + C126 COSM4441397 c.2155A>G p.T719A Substitution - Missense 1:10135117-10135117 + TCGA-DW-5560-01 COSM3984031 c.919C>A p.R307R Substitution - coding silent 1:10117568-10117568 + 2521249 COSM1953697 c.3731C>T p.P1244L Substitution - Missense 1:10179446-10179446 + TCGA-AR-A5QN-01 COSM3801069 c.2674A>G p.K892E Substitution - Missense 1:10161149-10161149 + TCGA-ER-A1A1-06 COSM3470359 c.1936C>T p.R646C Substitution - Missense 1:10137165-10137165 + TCGA-G4-6628-01 COSM1332019 c.726_727delTC p.L244fs*26 Deletion - Frameshift 1:10105661-10105662 + TCGA-AZ-4315-01 COSM1332021 c.799T>C p.S267P Substitution - Missense 1:10105734-10105734 + TCGA-EE-A20C-06 COSM3862040 c.1340C>T p.S447F Substitution - Missense 1:10130531-10130531 + TCGA-AR-A250-01 COSM176684 c.407G>A p.R136Q Substitution - Missense 1:10101167-10101167 + A9 COSM5349928 c.3360G>A p.M1120I Substitution - Missense 1:10171164-10171164 + J90_T COSM3975749 c.3661G>T p.A1221S Substitution - Missense 1:10178779-10178779 + TCGA-EI-6883-01 COSM3417788 c.3101C>T p.T1034M Substitution - Missense 1:10161189-10161189 + ESCC_161 COSM5647500 c.454G>C p.E152Q Substitution - Missense 1:10102966-10102966 + TCGA-AP-A051-01 COSM893078 c.3900C>T p.S1300S Substitution - coding silent 1:10179947-10179947 + PT31 COSM5906684 c.1049C>T p.P350L Substitution - Missense 1:10119610-10119610 + LP6007414-DNA_A02 COSM893024 c.285G>A p.T95T Substitution - coding silent 1:10095534-10095534 + H441 COSM1193581 c.3324G>T p.M1108I Substitution - Missense 1:10179426-10179426 + TCGA-UB-A7MB-01 COSM4930627 c.3086T>C p.M1029T Substitution - Missense 1:10161174-10161174 + BD14T COSM5517042 c.1540G>C p.E514Q Substitution - Missense 1:10122062-10122062 + 8014187 COSM3384954 c.34A>T p.R12W Substitution - Missense 1:10072037-10072037 + HCC130T COSM1600426 c.529G>A p.V177I Substitution - Missense 1:10103041-10103041 + TCGA-AR-A24Q-01 COSM1472338 c.1321_1322insA p.A444fs*52 Insertion - Frameshift 1:10117583-10117584 + 2290929 COSM4439798 c.3467C>T p.T1156M Substitution - Missense 1:10171271-10171271 + TCGA-EI-6882-01 COSM3417779 c.129G>A p.A43A Substitution - coding silent 1:10072132-10072132 + TCGA-BS-A0TC-01 COSM893046 c.1455G>A p.G485G Substitution - coding silent 1:10130744-10130744 + TCGA-EI-6882-01 COSM3417780 c.129G>A p.A43A Substitution - coding silent 1:10072132-10072132 + 1_PRE-TREATMENT COSM1720898 c.2184_2185CC>TT p.(=) Unknown 1:10147070-10147071 + TCGA-AP-A0LM-01 COSM893052 c.2394C>A p.S798R Substitution - Missense 1:10144970-10144970 + LOVO COSM1332036 c.1322delA p.A444fs*14 Deletion - Frameshift 1:10117584-10117584 + TCGA-AX-A0J1-01 COSM893023 c.285G>A p.T95T Substitution - coding silent 1:10095534-10095534 + TCGA-A3-3387-01 COSM462485 c.3196C>T p.R1066W Substitution - Missense 1:10161284-10161284 + CSCC-31-T COSM4516583 c.1683_1684CC>TT p.L562F Substitution - Missense 1:10135032-10135033 + TCGA-B5-A0JY-01 COSM893055 c.2044G>A p.E682K Substitution - Missense 1:10145007-10145007 + LOVO COSM1332037 c.935delA p.A315fs*14 Deletion - Frameshift 1:10117584-10117584 + PD4197a COSM165373 c.1206C>G p.A402A Substitution - coding silent 1:10126832-10126832 + RKO COSM4647230 c.3761A>T p.D1254V Substitution - Missense 1:10179476-10179476 + Pat_58_B COSM5842891 c.3316A>T p.K1106* Substitution - Nonsense 1:10168253-10168253 + PDA_085 COSM5002762 c.3307C>A p.Q1103K Substitution - Missense 1:10168244-10168244 + TCGA-DM-A28M-01 COSM3688834 c.2987T>A p.L996H Substitution - Missense 1:10171178-10171178 + MZ7-mel COSM23463 c.1489_1490insT p.S497fs*17 Insertion - Frameshift 1:10130778-10130779 + TCGA-CD-8536-01 COSM1185305 c.2320C>T p.R774C Substitution - Missense 1:10137162-10137162 + TCGA-CG-5733-01 COSM4019935 c.3032A>C p.N1011T Substitution - Missense 1:10171223-10171223 + A673 COSM4576057 c.2548C>T p.H850Y Substitution - Missense 1:10158364-10158364 + TCGA-DU-6410-01 COSM3965675 c.1499G>A p.G500D Substitution - Missense 1:10122021-10122021 + TCGA-AX-A0J0-01 COSM893058 c.2538T>G p.F846L Substitution - Missense 1:10147037-10147037 + TCGA-BR-6452-01 COSM4019887 c.784T>A p.S262T Substitution - Missense 1:10105719-10105719 + CSCC-44-T COSM4542061 c.3118G>A p.E1040K Substitution - Missense 1:10161206-10161206 + S02139 COSM5673889 c.905A>G p.Q302R Substitution - Missense 1:10106292-10106292 + T2944 COSM4738750 c.224G>A p.R75Q Substitution - Missense 1:10095473-10095473 + CHOL50 COSM1744683 c.523A>T p.R175* Substitution - Nonsense 1:10103035-10103035 + 1_RESISTANT COSM1720897 c.2571_2572CC>TT p.(=) Unknown 1:10147070-10147071 + TCGA-HF-7132-01 COSM4019862 c.31C>T p.R11W Substitution - Missense 1:10072034-10072034 + TCGA-FW-A3R5-06 COSM3862034 c.267C>T p.P89P Substitution - coding silent 1:10095516-10095516 + TCGA-KK-A6E6-01 COSM4879058 c.1193T>C p.L398P Substitution - Missense 1:10126819-10126819 + ESO-1481 COSM1269641 c.1322A>G p.E441G Substitution - Missense 1:10117584-10117584 + 10-P083 COSM4568600 c.1234T>C p.Y412H Substitution - Missense 1:10117496-10117496 + HCC2998 COSM1667131 c.3224T>G p.F1075C Substitution - Missense 1:10178729-10178729 + HCC2998 COSM1667130 c.3611T>G p.F1204C Substitution - Missense 1:10178729-10178729 + TCGA-BS-A0TC-01 COSM893045 c.1842G>A p.G614G Substitution - coding silent 1:10130744-10130744 + TCGA-EE-A29R-06 COSM3470365 c.2519C>T p.S840F Substitution - Missense 1:10151541-10151541 + TCGA-BS-A0UV-01 COSM893061 c.2225C>A p.S742* Substitution - Nonsense 1:10149204-10149204 + TCGA-F5-6814-01 COSM3417785 c.591T>G p.D197E Substitution - Missense 1:10105526-10105526 + HCC2998 COSM1953307 c.130G>A p.A44T Substitution - Missense 1:10072133-10072133 + C086 COSM5541276 c.3421C>T p.P1141S Substitution - Missense 1:10171225-10171225 + T2932 COSM4738756 c.3397C>T p.L1133L Substitution - coding silent 1:10179499-10179499 + TCGA-CG-5733-01 COSM4019934 c.3419A>C p.N1140T Substitution - Missense 1:10171223-10171223 + CCK81 COSM1953572 c.2995A>G p.I999V Substitution - Missense 1:10158424-10158424 + ESCC_BICR_044T COSM5439813 c.70C>T p.Q24* Substitution - Nonsense 1:10072073-10072073 + TCGA-CG-5726-01 COSM4019907 c.2121C>T p.D707D Substitution - coding silent 1:10147007-10147007 + I2L-P9-Tumor-Organoid COSM1269642 c.935A>G p.E312G Substitution - Missense 1:10117584-10117584 + TCGA-BR-8361-01 COSM4019891 c.1068C>T p.L356L Substitution - coding silent 1:10106455-10106455 + TCGA-DA-A1I0-06 COSM3470361 c.2410C>T p.P804S Substitution - Missense 1:10144986-10144986 + RK025_C01 COSM1626252 c.2057G>T p.R686L Substitution - Missense 1:10145020-10145020 + TCGA-FS-A1Z0-06 COSM3470347 c.1217C>T p.S406F Substitution - Missense 1:10126843-10126843 + I2L-P9-Tumor-Organoid COSM1269641 c.1322A>G p.E441G Substitution - Missense 1:10117584-10117584 + TCGA-AA-A022-01 COSM300508 c.1605C>T p.V535V Substitution - coding silent 1:10132449-10132449 + LUAD-NYU315 COSM373497 c.3633G>T p.V1211V Substitution - coding silent 1:10178751-10178751 + ESCC-003T COSM3933969 c.68C>G p.S23C Substitution - Missense 1:10072071-10072071 + cSCCP8 COSM140344 c.3407C>T p.S1136F Substitution - Missense 1:10179509-10179509 + TCGA-CK-5916-01 COSM1332047 c.1566C>T p.G522G Substitution - coding silent 1:10132410-10132410 + TCGA-BR-4371-01 COSM4019897 c.994C>T p.R332C Substitution - Missense 1:10119555-10119555 + GHE1209 COSM5715062 c.3250C>T p.R1084C Substitution - Missense 1:10168187-10168187 + CLN2 COSM5024739 c.1306C>T p.R436* Substitution - Nonsense 1:10117568-10117568 + TCGA-A2-A0SY-01 COSM1472338 c.1321_1322insA p.A444fs*52 Insertion - Frameshift 1:10117583-10117584 + TCGA-DC-6681-01 COSM1560157 c.2959C>T p.R987* Substitution - Nonsense 1:10171150-10171150 + 1_RESISTANT COSM1720898 c.2184_2185CC>TT p.(=) Unknown 1:10147070-10147071 + BD14T COSM5517043 c.1153G>C p.E385Q Substitution - Missense 1:10122062-10122062 + TCGA-GN-A266-06 COSM3470344 c.1136C>T p.T379I Substitution - Missense 1:10122045-10122045 + TCGA-CA-6717-01 COSM1332035 c.906C>T p.I302I Substitution - coding silent 1:10117555-10117555 + TCGA-06-0644-01 COSM2151204 c.1566C>G p.G522G Substitution - coding silent 1:10132410-10132410 + TCGA-IR-A3LK-01 COSM4818035 c.518G>A p.R173Q Substitution - Missense 1:10103030-10103030 + CHEWS019 COSM1953405 c.872C>T p.P291L Substitution - Missense 1:10106259-10106259 + TCGA-EW-A3U0-01 COSM3801074 c.2923G>T p.V975F Substitution - Missense 1:10168247-10168247 + TCGA-EE-A2GP-06 COSM3470353 c.1683C>T p.F561F Substitution - coding silent 1:10135032-10135032 + LUAD_E00522 COSM352779 c.84A>T p.P28P Substitution - coding silent 1:10072087-10072087 + C086 COSM5541270 c.1591G>T p.A531S Substitution - Missense 1:10126830-10126830 + 824_T COSM3975739 c.1928G>T p.S643I Substitution - Missense 1:10137157-10137157 + TCGA-13-0920-01 COSM81877 c.3195G>C p.G1065G Substitution - coding silent 1:10178700-10178700 + OSCC-GB_01360111 COSM5955500 c.3102G>A p.T1034T Substitution - coding silent 1:10161190-10161190 + TCGA-BT-A2LB-01 COSM3788340 c.2374A>G p.N792D Substitution - Missense 1:10151396-10151396 + BN49 COSM1600423 c.481C>T p.L161L Substitution - coding silent 1:10102993-10102993 + LUAD-NYU315 COSM373498 c.3246G>T p.V1082V Substitution - coding silent 1:10178751-10178751 + TCGA-43-3920-01 COSM674693 c.2851G>A p.E951K Substitution - Missense 1:10168175-10168175 + 61 COSM5735242 c.3580G>T p.G1194W Substitution - Missense 1:10178698-10178698 + T2944 COSM4738751 c.224G>A p.R75Q Substitution - Missense 1:10095473-10095473 + TCGA-BT-A20R-01 COSM1294618 c.1635C>G p.L545L Substitution - coding silent 1:10126874-10126874 + CSCC-44-T COSM4539193 c.2272G>C p.D758H Substitution - Missense 1:10149251-10149251 + CRC-5 COSM304761 c.2540-1G>C p.? Unknown 1:10158355-10158355 + TCGA-AP-A0LM-01 COSM893053 c.2007C>A p.S669R Substitution - Missense 1:10144970-10144970 + TCGA-BR-8360-01 COSM4019899 c.1721C>T p.P574L Substitution - Missense 1:10130525-10130525 + CRC-02T COSM5455942 c.801_802delTT p.L268fs*2 Deletion - Frameshift 1:10105736-10105737 + CHC896T COSM4953613 c.3392C>T p.P1131L Substitution - Missense 1:10171196-10171196 + CSCC-44-T COSM4542062 c.2731G>A p.E911K Substitution - Missense 1:10161206-10161206 + 313 COSM1741930 c.1838C>G p.S613* Substitution - Nonsense 1:10130740-10130740 + CSCC-62-T COSM4478732 c.2260C>T p.P754S Substitution - Missense 1:10137102-10137102 + BD175T COSM5507696 c.882G>C p.E294D Substitution - Missense 1:10117531-10117531 + TCGA-CD-8536-01 COSM1185306 c.1933C>T p.R645C Substitution - Missense 1:10137162-10137162 + AA2051 COSM4169130 c.629_630insA p.M211fs*9 Insertion - Frameshift 1:10105564-10105565 + OSCC-GB_00420111 COSM3709978 c.1587C>A p.L529L Substitution - coding silent 1:10132431-10132431 + TCGA-EE-A29R-06 COSM3470364 c.2906C>T p.S969F Substitution - Missense 1:10151541-10151541 + LIM2405 COSM4641394 c.3834C>T p.S1278S Substitution - coding silent 1:10179549-10179549 + TCGA-F4-6570-01 COSM1332054 c.2677delT p.F894fs*19 Deletion - Frameshift 1:10149269-10149269 + TCGA-D1-A17A-01 COSM893030 c.1004T>C p.V335A Substitution - Missense 1:10106391-10106391 + TCGA-B5-A0JY-01 COSM893054 c.2431G>A p.E811K Substitution - Missense 1:10145007-10145007 + 587376 COSM1231580 c.991C>T p.R331C Substitution - Missense 1:10106378-10106378 + TCGA-G4-6298-01 COSM1231577 c.3434C>T p.T1145M Substitution - Missense 1:10179536-10179536 + PT31 COSM5906680 c.2560C>G p.L854V Substitution - Missense 1:10147059-10147059 + YUGOE COSM1686972 c.1436T>C p.V479A Substitution - Missense 1:10130725-10130725 + LUAD-B01145 COSM333330 c.860C>T p.P287L Substitution - Missense 1:10106247-10106247 + TCGA-AZ-4315-01 COSM1332020 c.799T>C p.S267P Substitution - Missense 1:10105734-10105734 + TCGA-BR-6452-01 COSM4019932 c.2960G>A p.R987Q Substitution - Missense 1:10171151-10171151 + TCGA-BR-4361-01 COSM4019912 c.2923A>G p.T975A Substitution - Missense 1:10151558-10151558 + TCGA-CA-6717-01 COSM1332061 c.2745T>C p.S915S Substitution - coding silent 1:10161220-10161220 + 2290929 COSM4439799 c.3080C>T p.T1027M Substitution - Missense 1:10171271-10171271 + 42T COSM3709977 c.1974C>A p.L658L Substitution - coding silent 1:10132431-10132431 + TCGA-DU-6410-01 COSM3965676 c.1112G>A p.G371D Substitution - Missense 1:10122021-10122021 + TCGA-DO-A2HM-01 COSM3369157 c.2265T>C p.Y755Y Substitution - coding silent 1:10149244-10149244 + TCGA-BT-A20R-01 COSM1294619 c.1248C>G p.L416L Substitution - coding silent 1:10126874-10126874 + TCGA-BS-A0UF-01 COSM893041 c.1703C>A p.S568Y Substitution - Missense 1:10130507-10130507 + HCC2998 COSM1667131 c.3224T>G p.F1075C Substitution - Missense 1:10178729-10178729 + BICR_22 COSM1953391 c.449G>T p.G150V Substitution - Missense 1:10102961-10102961 + FL-PatientA COSM220489 c.2752C>T p.R918* Substitution - Nonsense 1:10161227-10161227 + TCGA-AA-3663-01 COSM1332022 c.987G>A p.R329R Substitution - coding silent 1:10106374-10106374 + LC_S19 COSM1185306 c.1933C>T p.R645C Substitution - Missense 1:10137162-10137162 + TCGA-A3-3349-01 COSM462482 c.1427T>C p.L476P Substitution - Missense 1:10119601-10119601 + TCGA-DW-5560-01 COSM3984030 c.1306C>A p.R436R Substitution - coding silent 1:10117568-10117568 + Pat_58_B COSM5842892 c.2929A>T p.K977* Substitution - Nonsense 1:10168253-10168253 + TCGA-AP-A051-01 COSM893079 c.3513C>T p.S1171S Substitution - coding silent 1:10179947-10179947 + ESCC_31 COSM5627706 c.1623G>A p.K541K Substitution - coding silent 1:10132467-10132467 + SNU-175 COSM1953710 c.3488C>T p.A1163V Substitution - Missense 1:10179922-10179922 + TCGA-CA-6717-01 COSM1332034 c.1293C>T p.I431I Substitution - coding silent 1:10117555-10117555 + 46M COSM5589291 c.1735C>T p.P579S Substitution - Missense 1:10135084-10135084 + ESCC_BICR_044T COSM5439812 c.70C>T p.Q24* Substitution - Nonsense 1:10072073-10072073 + CHC896T COSM4953613 c.3392C>T p.P1131L Substitution - Missense 1:10171196-10171196 + TCGA-A6-5665-01 COSM1332014 c.580+2T>C p.? Unknown 1:10103094-10103094 + BN49T COSM1600423 c.481C>T p.L161L Substitution - coding silent 1:10102993-10102993 + C086 COSM5541274 c.3035C>T p.P1012L Substitution - Missense 1:10171226-10171226 + CSCC-62-T COSM4478733 c.1873C>T p.P625S Substitution - Missense 1:10137102-10137102 + TCGA-DK-A1AC-01 COSM1294620 c.2058T>A p.F686L Substitution - Missense 1:10135020-10135020 + PT31 COSM5906681 c.2173C>G p.L725V Substitution - Missense 1:10147059-10147059 + I2L-P11-Tumor-Organoid COSM1953493 c.1360C>T p.R454W Substitution - Missense 1:10130551-10130551 + TCGA-60-2726-01 COSM674718 c.743G>A p.G248D Substitution - Missense 1:10105678-10105678 + TCGA-G4-6628-01 COSM1332071 c.3442C>T p.P1148S Substitution - Missense 1:10171246-10171246 + TCGA-AA-3663-01 COSM1332069 c.3348_3349insT p.L1117fs*8 Insertion - Frameshift 1:10171152-10171153 + YUGOE COSM1686971 c.1823T>C p.V608A Substitution - Missense 1:10130725-10130725 + TCGA-E2-A1IN-01 COSM1294614 c.813C>G p.L271L Substitution - coding silent 1:10106200-10106200 + TCGA-EE-A2GC-06 COSM3470334 c.406C>T p.R136* Substitution - Nonsense 1:10101166-10101166 + AOCS-084-1-X COSM4004624 c.2874C>T p.L958L Substitution - coding silent 1:10168198-10168198 + ESCC_31 COSM5627705 c.2010G>A p.K670K Substitution - coding silent 1:10132467-10132467 + PT08_2 COSM5892671 c.1057C>T p.P353S Substitution - Missense 1:10106444-10106444 + SC_9047 COSM5557440 c.199A>G p.I67V Substitution - Missense 1:10072202-10072202 + sysucc-1397T COSM5473065 c.3526-4G>A p.? Unknown 1:10178640-10178640 + 587376 COSM1231583 c.3192G>T p.L1064F Substitution - Missense 1:10161280-10161280 + 8014187 COSM3384955 c.34A>T p.R12W Substitution - Missense 1:10072037-10072037 + TCGA-41-3392-01 COSM3399492 c.3139C>T p.R1047* Substitution - Nonsense 1:10161227-10161227 + TCGA-BR-4184-01 COSM3801065 c.2333G>A p.R778H Substitution - Missense 1:10137175-10137175 + TCGA-A2-A0SY-01 COSM1472339 c.934_935insA p.A315fs*52 Insertion - Frameshift 1:10117583-10117584 + TCGA-D9-A6E9-06 COSM1953405 c.872C>T p.P291L Substitution - Missense 1:10106259-10106259 + TCGA-AX-A0J1-01 COSM893063 c.2553C>T p.T851T Substitution - coding silent 1:10158369-10158369 + PT44 COSM5926316 c.1079C>T p.P360L Substitution - Missense 1:10106466-10106466 + ESCC_168 COSM5648656 c.2482G>C p.E828Q Substitution - Missense 1:10151504-10151504 + TCGA-EB-A3XB-01 COSM3470378 c.2878C>T p.L960L Substitution - coding silent 1:10168202-10168202 + LC_S29 COSM1185304 c.80C>G p.T27S Substitution - Missense 1:10072083-10072083 + TCGA-EE-A2GP-06 COSM3470352 c.2070C>T p.F690F Substitution - coding silent 1:10135032-10135032 + CSCC-44-T COSM4480515 c.2427C>T p.H809H Substitution - coding silent 1:10145003-10145003 + 2553_T COSM3975734 c.718G>C p.D240H Substitution - Missense 1:10105653-10105653 + LUAD-S01306 COSM343529 c.3888G>A p.E1296E Substitution - coding silent 1:10179935-10179935 + HCC130 COSM1600426 c.529G>A p.V177I Substitution - Missense 1:10103041-10103041 + Pat_70_A COSM3862044 c.3232C>T p.Q1078* Substitution - Nonsense 1:10168169-10168169 + YUPTER COSM4476874 c.1716C>T p.I572I Substitution - coding silent 1:10135065-10135065 + TCGA-AZ-6598-01 COSM1332051 c.1976G>T p.R659I Substitution - Missense 1:10137205-10137205 + 313 COSM1741931 c.1451C>G p.S484* Substitution - Nonsense 1:10130740-10130740 + C0021T COSM4140712 c.1122G>T p.Q374H Substitution - Missense 1:10122031-10122031 + TCGA-EI-6883-01 COSM3417789 c.2714C>T p.T905M Substitution - Missense 1:10161189-10161189 + RK141_C01 COSM1626250 c.809+2T>C p.? Unknown 1:10105746-10105746 + TCGA-E2-A15O-01 COSM423327 c.2056C>T p.R686C Substitution - Missense 1:10145019-10145019 + LC_S29 COSM1185303 c.80C>G p.T27S Substitution - Missense 1:10072083-10072083 + Pat_08_B COSM3470365 c.2519C>T p.S840F Substitution - Missense 1:10151541-10151541 + 045T COSM1729668 c.2803G>A p.V935I Substitution - Missense 1:10151438-10151438 + TCGA-BR-4370-01 COSM4019909 c.2705C>T p.A902V Substitution - Missense 1:10151340-10151340 + 585260 COSM326804 c.1151C>T p.P384L Substitution - Missense 1:10106538-10106538 + TCGA-B5-A0JY-01 COSM893025 c.415A>C p.K139Q Substitution - Missense 1:10101175-10101175 + TCGA-06-0644 COSM2151203 c.1953C>G p.G651G Substitution - coding silent 1:10132410-10132410 + PT08_1 COSM5892671 c.1057C>T p.P353S Substitution - Missense 1:10106444-10106444 + C086 COSM5541271 c.1204G>T p.A402S Substitution - Missense 1:10126830-10126830 + TCGA-B0-5075-01 COSM674705 c.2581G>A p.A861T Substitution - Missense 1:10147080-10147080 + RKO COSM4647231 c.3374A>T p.D1125V Substitution - Missense 1:10179476-10179476 + I2L-P11-Tumor-Biopsy COSM1953492 c.1747C>T p.R583W Substitution - Missense 1:10130551-10130551 + Pat_41_B COSM5842886 c.2239C>T p.P747S Substitution - Missense 1:10137081-10137081 + TCGA-HU-A4GT-01 COSM4019938 c.3055C>G p.P1019A Substitution - Missense 1:10171246-10171246 + T3724 COSM1953518 c.2229C>T p.G743G Substitution - coding silent 1:10137071-10137071 + TCGA-ER-A194-01 COSM3470401 c.3906C>G p.H1302Q Substitution - Missense 1:10179953-10179953 + CSCC-29-T COSM4488656 c.2974C>T p.L992L Substitution - coding silent 1:10171165-10171165 + C086 COSM3862051 c.3114C>T p.F1038F Substitution - coding silent 1:10171305-10171305 + TCGA-AZ-4315-01 COSM1332016 c.696T>C p.I232I Substitution - coding silent 1:10105631-10105631 + 1517_CLM COSM5754116 c.122C>A p.P41H Substitution - Missense 1:10072125-10072125 + TCGA-FS-A1Z0-06 COSM3470346 c.1604C>T p.S535F Substitution - Missense 1:10126843-10126843 + TCGA-AX-A064-01 COSM893044 c.1414G>A p.A472T Substitution - Missense 1:10130605-10130605 + TCGA-AZ-6605-01 COSM1332044 c.1710G>C p.R570R Substitution - coding silent 1:10130514-10130514 + TCGA-BR-8487-01 COSM4019941 c.3230T>G p.L1077R Substitution - Missense 1:10178735-10178735 + TCGA-AP-A059-01 COSM893056 c.2498G>A p.G833D Substitution - Missense 1:10146997-10146997 + CHC896T COSM4953614 c.3005C>T p.P1002L Substitution - Missense 1:10171196-10171196 + 6115114 COSM5559795 c.2143C>G p.L715V Substitution - Missense 1:10147029-10147029 + TCGA-D5-6930-01 COSM1332043 c.1322G>A p.R441Q Substitution - Missense 1:10130513-10130513 + PT51 COSM5937978 c.3346G>A p.V1116M Substitution - Missense 1:10179448-10179448 + TCGA-AY-6196-01 COSM1332057 c.2469T>G p.F823L Substitution - Missense 1:10151491-10151491 + T2269 COSM4738750 c.224G>A p.R75Q Substitution - Missense 1:10095473-10095473 + Pat_08_A COSM3470365 c.2519C>T p.S840F Substitution - Missense 1:10151541-10151541 + TCGA-F1-6874-01 COSM4019892 c.1069G>A p.A357T Substitution - Missense 1:10106456-10106456 + TCGA-AP-A0LM-01 COSM893027 c.577G>T p.E193* Substitution - Nonsense 1:10103089-10103089 + ccRCC-99 COSM1664859 c.1674G>T p.M558I Substitution - Missense 1:10135023-10135023 + 1N42-VS-1T42 COSM4975550 c.3254C>T p.S1085F Substitution - Missense 1:10168191-10168191 + 1517_PT COSM5754116 c.122C>A p.P41H Substitution - Missense 1:10072125-10072125 + PD4601a COSM165374 c.1740G>A p.T580T Substitution - coding silent 1:10135089-10135089 + TCGA-B0-5075-01 COSM462478 c.456A>T p.E152D Substitution - Missense 1:10102968-10102968 + TCGA-AR-A5QN-01 COSM3801068 c.3061A>G p.K1021E Substitution - Missense 1:10161149-10161149 + 8065639 COSM3384961 c.3529T>A p.S1177T Substitution - Missense 1:10178647-10178647 + TCGA-D8-A1J9-01 COSM1472340 c.1764C>G p.L588L Substitution - coding silent 1:10130568-10130568 + PT13 COSM5895539 c.577G>A p.E193K Substitution - Missense 1:10103089-10103089 + 6115114 COSM5559803 c.2158C>T p.L720F Substitution - Missense 1:10147044-10147044 + TCGA-G2-A2EL-01 COSM1294614 c.813C>G p.L271L Substitution - coding silent 1:10106200-10106200 + TCGA-CD-8531-01 COSM4019944 c.3324G>A p.M1108I Substitution - Missense 1:10179426-10179426 + OSCC-GB_01360111 COSM5955501 c.2715G>A p.T905T Substitution - coding silent 1:10161190-10161190 + TCGA-AX-A064-01 COSM893043 c.1801G>A p.A601T Substitution - Missense 1:10130605-10130605 + CHC1083T COSM4943246 c.3274G>A p.A1092T Substitution - Missense 1:10178779-10178779 + ESCC_161 COSM5647501 c.454G>C p.E152Q Substitution - Missense 1:10102966-10102966 + TCGA-G4-6628-01 COSM1332072 c.3055C>T p.P1019S Substitution - Missense 1:10171246-10171246 + ESCC-003T COSM3933968 c.68C>G p.S23C Substitution - Missense 1:10072071-10072071 + OSCC-GB_00610111 COSM4886852 c.925G>T p.G309* Substitution - Nonsense 1:10117574-10117574 + TCGA-AX-A0J1-01 COSM893050 c.2127G>A p.T709T Substitution - coding silent 1:10135089-10135089 + Pat_08_B COSM3470364 c.2906C>T p.S969F Substitution - Missense 1:10151541-10151541 + TCGA-G9-6342-01 COSM3671320 c.2193C>A p.P731P Substitution - coding silent 1:10147079-10147079 + TCGA-GN-A266-06 COSM3470343 c.1523C>T p.T508I Substitution - Missense 1:10122045-10122045 + CSCC-31-T COSM4476873 c.2103C>T p.I701I Substitution - coding silent 1:10135065-10135065 + LUAD-S01306 COSM343530 c.3501G>A p.E1167E Substitution - coding silent 1:10179935-10179935 + PT35 COSM335501 c.1916C>T p.S639F Substitution - Missense 1:10137145-10137145 + 587376 COSM1231581 c.2859T>G p.F953L Substitution - Missense 1:10151494-10151494 + LC_S19 COSM1185305 c.2320C>T p.R774C Substitution - Missense 1:10137162-10137162 + YULAN COSM1686973 c.3625G>A p.E1209K Substitution - Missense 1:10178743-10178743 + TCGA-BR-8372-01 COSM4019890 c.1020G>A p.A340A Substitution - coding silent 1:10106407-10106407 + 587278 COSM1231576 c.3821C>T p.T1274M Substitution - Missense 1:10179536-10179536 + GHE1209 COSM5715063 c.2863C>T p.R955C Substitution - Missense 1:10168187-10168187 + SNU-C2B COSM1953406 c.891C>A p.S297S Substitution - coding silent 1:10106278-10106278 + HCC2998 COSM1953306 c.130G>A p.A44T Substitution - Missense 1:10072133-10072133 + TCGA-AX-A0J0-01 COSM893059 c.2151T>G p.F717L Substitution - Missense 1:10147037-10147037 + TCGA-CG-5726-01 COSM4019906 c.2508C>T p.D836D Substitution - coding silent 1:10147007-10147007 + TCGA-AX-A0J1-01 COSM893062 c.2940C>T p.T980T Substitution - coding silent 1:10158369-10158369 + AOCS-077-1-6 COSM4004622 c.1125G>A p.T375T Substitution - coding silent 1:10106512-10106512 + HCC2998 COSM1667130 c.3611T>G p.F1204C Substitution - Missense 1:10178729-10178729 + CSCC-29-T COSM4488655 c.3361C>T p.L1121L Substitution - coding silent 1:10171165-10171165 + 46M COSM5589290 c.2122C>T p.P708S Substitution - Missense 1:10135084-10135084 + LIM1899 COSM4639699 c.3291C>T p.S1097S Substitution - coding silent 1:10178796-10178796 + TCGA-AP-A059-01 COSM893057 c.2111G>A p.G704D Substitution - Missense 1:10146997-10146997 + 1_RESISTANT COSM1720896 c.1009C>T p.H337Y Substitution - Missense 1:10106396-10106396 + TCGA-AA-3663-01 COSM1332070 c.2961_2962insT p.L988fs*8 Insertion - Frameshift 1:10171152-10171153 + TCGA-AP-A0LM-01 COSM286242 c.577G>T p.E193* Substitution - Nonsense 1:10103089-10103089 + Pat_08_A COSM3470364 c.2906C>T p.S969F Substitution - Missense 1:10151541-10151541 + H1155 COSM1195782 c.128C>T p.A43V Substitution - Missense 1:10072131-10072131 + TCGA-DK-A1A7-01 COSM414217 c.1103C>T p.S368F Substitution - Missense 1:10106490-10106490 + 587336 COSM1231578 c.3763C>T p.R1255C Substitution - Missense 1:10179478-10179478 + TCGA-D8-A1Y0-01 COSM1472337 c.569A>G p.N190S Substitution - Missense 1:10103081-10103081 + T2269 COSM4738751 c.224G>A p.R75Q Substitution - Missense 1:10095473-10095473 + TCGA-AC-A23H-01 COSM3801054 c.461C>G p.S154C Substitution - Missense 1:10102973-10102973 + ESCC_55 COSM5631616 c.290C>G p.S97C Substitution - Missense 1:10095539-10095539 + CLN2 COSM5024740 c.919C>T p.R307* Substitution - Nonsense 1:10117568-10117568 + TCGA-60-2726-01 COSM674717 c.743G>A p.G248D Substitution - Missense 1:10105678-10105678 + CSCC-37-T COSM4568600 c.1234T>C p.Y412H Substitution - Missense 1:10117496-10117496 + TCGA-06-0644 COSM2151204 c.1566C>G p.G522G Substitution - coding silent 1:10132410-10132410 + BICR_22 COSM1953392 c.449G>T p.G150V Substitution - Missense 1:10102961-10102961 + CHC1083T COSM4943245 c.3661G>A p.A1221T Substitution - Missense 1:10178779-10178779 + TCGA-F5-6814-01 COSM3417786 c.591T>G p.D197E Substitution - Missense 1:10105526-10105526 + YUKAT COSM5377051 c.1735C>T p.P579S Substitution - Missense 1:10130539-10130539 + LUAD-YKER9 COSM352046 c.1749G>A p.R583R Substitution - coding silent 1:10130553-10130553 + TCGA-AR-A24Q-01 COSM1472339 c.934_935insA p.A315fs*52 Insertion - Frameshift 1:10117583-10117584 + 2553_T COSM3975735 c.718G>C p.D240H Substitution - Missense 1:10105653-10105653 + ccRCC-99 COSM1664858 c.2061G>T p.M687I Substitution - Missense 1:10135023-10135023 + SNUH_G10_S1 COSM3996709 c.1713G>C p.L571F Substitution - Missense 1:10130517-10130517 + GC8_T COSM146388 c.2565T>C p.S855S Substitution - coding silent 1:10158381-10158381 + TCGA-AX-A05Z-01 COSM893028 c.992G>A p.R331H Substitution - Missense 1:10106379-10106379 + CSCC-31-T COSM4476874 c.1716C>T p.I572I Substitution - coding silent 1:10135065-10135065 + TCGA-B5-A0JY-01 COSM893026 c.415A>C p.K139Q Substitution - Missense 1:10101175-10101175 + C086 COSM3862050 c.3501C>T p.F1167F Substitution - coding silent 1:10171305-10171305 + PCSI_0476_Pa_P_526 COSM5031459 c.480G>A p.Q160Q Substitution - coding silent 1:10102992-10102992 + CSCC-27-T COSM1953394 c.504C>T p.V168V Substitution - coding silent 1:10103016-10103016 + OSCC-GB_00420111 COSM3709977 c.1974C>A p.L658L Substitution - coding silent 1:10132431-10132431 + Pat_24_A COSM5842883 c.499C>T p.R167C Substitution - Missense 1:10103011-10103011 + MD-051 COSM303507 c.1964G>T p.R655L Substitution - Missense 1:10137193-10137193 + TCGA-G4-6298-01 COSM1231576 c.3821C>T p.T1274M Substitution - Missense 1:10179536-10179536 + 10-P083 COSM4568601 c.847T>C p.Y283H Substitution - Missense 1:10117496-10117496 + SNU-175 COSM1953709 c.3875C>T p.A1292V Substitution - Missense 1:10179922-10179922 + TCGA-ER-A1A1-06 COSM3470358 c.2323C>T p.R775C Substitution - Missense 1:10137165-10137165 + CSCC-29-T COSM4452597 c.1610A>T p.N537I Substitution - Missense 1:10132454-10132454 + TCGA-BR-4184-01 COSM4019883 c.264G>A p.S88S Substitution - coding silent 1:10095513-10095513 + Pat_41_B COSM5842887 c.1852C>T p.P618S Substitution - Missense 1:10137081-10137081 + TCGA-DM-A28M-01 COSM3688833 c.3374T>A p.L1125H Substitution - Missense 1:10171178-10171178 + TCGA-A6-5665-01 COSM1332015 c.580+2T>C p.? Unknown 1:10103094-10103094 + PCSI_0087_Pa_P COSM216408 c.1036T>C p.S346P Substitution - Missense 1:10119597-10119597 + TCGA-DK-A1AC-01 COSM1294621 c.1671T>A p.F557L Substitution - Missense 1:10135020-10135020 + ESO-1481 COSM1269642 c.935A>G p.E312G Substitution - Missense 1:10117584-10117584 + TCGA-EK-A3GK-01 COSM4852710 c.1757G>C p.R586T Substitution - Missense 1:10135106-10135106 + 1_PRE-TREATMENT COSM1720897 c.2571_2572CC>TT p.(=) Unknown 1:10147070-10147071 + LUAD-D01751 COSM338227 c.53C>G p.A18G Substitution - Missense 1:10072056-10072056 + STC291 COSM5052328 c.461C>A p.S154Y Substitution - Missense 1:10102973-10102973 + MD-023 COSM303506 c.3429G>A p.R1143R Substitution - coding silent 1:10179531-10179531 + TCGA-DA-A1I0-06 COSM3470362 c.2023C>T p.P675S Substitution - Missense 1:10144986-10144986 + IGROV-1 COSM1667128 c.2848C>T p.Q950* Substitution - Nonsense 1:10151483-10151483 + C086 COSM5541273 c.3422C>T p.P1141L Substitution - Missense 1:10171226-10171226 + CSCC-31-T COSM4516582 c.2070_2071CC>TT p.L691F Substitution - Missense 1:10135032-10135033 + TCGA-B5-A11E-01 COSM893048 c.1518C>T p.L506L Substitution - coding silent 1:10130807-10130807 + TCGA-AN-A046-01 COSM3801066 c.1946G>A p.R649H Substitution - Missense 1:10137175-10137175 + TCGA-EE-A17X-06 COSM3470355 c.2137C>T p.H713Y Substitution - Missense 1:10135099-10135099 + TCGA-AP-A0LE-01 COSM893029 c.996C>T p.P332P Substitution - coding silent 1:10106383-10106383 + BD175T COSM5507695 c.1269G>C p.E423D Substitution - Missense 1:10117531-10117531 + YUKAT COSM5377052 c.1348C>T p.P450S Substitution - Missense 1:10130539-10130539 + RK027_C01 COSM1626247 c.56G>T p.G19V Substitution - Missense 1:10072059-10072059 + LUAD-D01751 COSM338226 c.53C>G p.A18G Substitution - Missense 1:10072056-10072056 + TCGA-BR-4184-01 COSM3801066 c.1946G>A p.R649H Substitution - Missense 1:10137175-10137175 + YUPTER COSM4476873 c.2103C>T p.I701I Substitution - coding silent 1:10135065-10135065 + LIM1899 COSM4639698 c.3678C>T p.S1226S Substitution - coding silent 1:10178796-10178796 + PT35 COSM4478733 c.1873C>T p.P625S Substitution - Missense 1:10137102-10137102 + TCGA-AG-A036-01 COSM290865 c.203G>A p.G68D Substitution - Missense 1:10072206-10072206 + CHC896T COSM4953614 c.3005C>T p.P1002L Substitution - Missense 1:10171196-10171196 + TCGA-G2-A2ES-01 COSM1294627 c.3717C>G p.T1239T Substitution - coding silent 1:10179432-10179432 + TCGA-A8-A0A6-01 COSM3801050 c.111T>C p.P37P Substitution - coding silent 1:10072114-10072114 + PD18279a COSM3770242 c.3273C>T p.R1091R Substitution - coding silent 1:10178778-10178778 + TCGA-BF-A1PZ-01 COSM4399291 c.2994C>T p.T998T Substitution - coding silent 1:10158423-10158423 + 1N51-VS-1T51 COSM4976596 c.717A>G p.P239P Substitution - coding silent 1:10105652-10105652 + I2L-P9-Tumor-Biopsy COSM1269642 c.935A>G p.E312G Substitution - Missense 1:10117584-10117584 + TCGA-FW-A3R5-06 COSM3862051 c.3114C>T p.F1038F Substitution - coding silent 1:10171305-10171305 + TCGA-ER-A194-01 COSM3470402 c.3519C>G p.H1173Q Substitution - Missense 1:10179953-10179953 + BN49 COSM1600424 c.481C>T p.L161L Substitution - coding silent 1:10102993-10102993 + C126 COSM4441398 c.1768A>G p.T590A Substitution - Missense 1:10135117-10135117 + TCGA-A8-A09Z-01 COSM3801057 c.499C>A p.R167S Substitution - Missense 1:10103011-10103011 + TCGA-BR-6452-01 COSM4019931 c.3347G>A p.R1116Q Substitution - Missense 1:10171151-10171151 + TARGET-20-PARGVC-03A-04D COSM5487547 c.3184C>T p.R1062W Substitution - Missense 1:10178689-10178689 + TCGA-CA-6719-01 COSM1332059 c.2539G>A p.D847N Substitution - Missense 1:10151561-10151561 + TCGA-06-0644-01 COSM2151203 c.1953C>G p.G651G Substitution - coding silent 1:10132410-10132410 + 2521249 COSM1953698 c.3344C>T p.P1115L Substitution - Missense 1:10179446-10179446 + 587336 COSM1231579 c.3376C>T p.R1126C Substitution - Missense 1:10179478-10179478 + PT31 COSM5906683 c.1436C>T p.P479L Substitution - Missense 1:10119610-10119610 + TCGA-A3-3387-01 COSM462486 c.2809C>T p.R937W Substitution - Missense 1:10161284-10161284 + TCGA-KK-A6E6-01 COSM4879057 c.1580T>C p.L527P Substitution - Missense 1:10126819-10126819 + TCGA-HU-A4GT-01 COSM4019937 c.3442C>G p.P1148A Substitution - Missense 1:10171246-10171246 + TCGA-A8-A096-01 COSM423329 c.3115G>A p.A1039T Substitution - Missense 1:10171306-10171306 + TCGA-F4-6570-01 COSM1332055 c.2290delT p.F765fs*19 Deletion - Frameshift 1:10149269-10149269 + TCGA-BT-A2LB-01 COSM3788339 c.2761A>G p.N921D Substitution - Missense 1:10151396-10151396 + 824_T COSM3975738 c.2315G>T p.S772I Substitution - Missense 1:10137157-10137157 + 045T COSM1729669 c.2416G>A p.V806I Substitution - Missense 1:10151438-10151438 + TCGA-G9-6342-01 COSM3671319 c.2580C>A p.P860P Substitution - coding silent 1:10147079-10147079 + TCGA-AX-A0J1-01 COSM893024 c.285G>A p.T95T Substitution - coding silent 1:10095534-10095534 + I2L-P9-Tumor-Biopsy COSM1269641 c.1322A>G p.E441G Substitution - Missense 1:10117584-10117584 + TCGA-43-3920-01 COSM674692 c.3238G>A p.E1080K Substitution - Missense 1:10168175-10168175 + TCGA-41-3392-01 COSM220489 c.2752C>T p.R918* Substitution - Nonsense 1:10161227-10161227 + 1_PRE-TREATMENT COSM1720896 c.1009C>T p.H337Y Substitution - Missense 1:10106396-10106396 + J90_T COSM3975750 c.3274G>T p.A1092S Substitution - Missense 1:10178779-10178779 + TCGA-BR-6452-01 COSM4019888 c.784T>A p.S262T Substitution - Missense 1:10105719-10105719 + 587278 COSM1231577 c.3434C>T p.T1145M Substitution - Missense 1:10179536-10179536 + TCGA-A8-A096-01 COSM423328 c.3502G>A p.A1168T Substitution - Missense 1:10171306-10171306 + K141 COSM249425 c.1546C>A p.H516N Substitution - Missense 1:10132390-10132390 + TCGA-CD-8531-01 COSM4019943 c.3711G>A p.M1237I Substitution - Missense 1:10179426-10179426 + sysucc-1397T COSM5473066 c.3139-4G>A p.? Unknown 1:10178640-10178640 + TCGA-AN-A03X-01 COSM423325 c.1236T>C p.F412F Substitution - coding silent 1:10126862-10126862 + TCGA-B0-5075-01 COSM462477 c.456A>T p.E152D Substitution - Missense 1:10102968-10102968 + TCGA-BR-8360-01 COSM4019900 c.1334C>T p.P445L Substitution - Missense 1:10130525-10130525 + 587376 COSM1231584 c.2805G>T p.L935F Substitution - Missense 1:10161280-10161280 + TCGA-AZ-6598-01 COSM1332050 c.2363G>T p.R788I Substitution - Missense 1:10137205-10137205 + I2L-P11-Tumor-Organoid COSM1953492 c.1747C>T p.R583W Substitution - Missense 1:10130551-10130551 + 1517_CLM COSM5754117 c.122C>A p.P41H Substitution - Missense 1:10072125-10072125 + TCGA-BR-8078-01 COSM4019902 c.2175G>A p.T725T Substitution - coding silent 1:10135137-10135137 + TCGA-CA-6719-01 COSM1332058 c.2926G>A p.D976N Substitution - Missense 1:10151561-10151561 + LAU165 COSM233699 c.3143C>T p.S1048F Substitution - Missense 1:10178648-10178648 + I2L-P11-Tumor-Biopsy COSM1953493 c.1360C>T p.R454W Substitution - Missense 1:10130551-10130551 + PT35 COSM335500 c.2303C>T p.S768F Substitution - Missense 1:10137145-10137145 + RK141_C01 COSM1626249 c.809+2T>C p.? Unknown 1:10105746-10105746 + PDA_085 COSM5002763 c.2920C>A p.Q974K Substitution - Missense 1:10168244-10168244 + TCGA-AX-A0J1-01 COSM165374 c.1740G>A p.T580T Substitution - coding silent 1:10135089-10135089 + CSCC-44-T COSM4539192 c.2659G>C p.D887H Substitution - Missense 1:10149251-10149251 + 587376 COSM1231582 c.2472T>G p.F824L Substitution - Missense 1:10151494-10151494 + TCGA-E2-A15O-01 COSM423326 c.2443C>T p.R815C Substitution - Missense 1:10145019-10145019 + TCGA-BR-4371-01 COSM4019896 c.1381C>T p.R461C Substitution - Missense 1:10119555-10119555 + CHC1083T COSM4943246 c.3274G>A p.A1092T Substitution - Missense 1:10178779-10178779 + TCGA-CH-5754-01 COSM1127514 c.3081G>A p.T1027T Substitution - coding silent 1:10171272-10171272 + 61 COSM5735243 c.3193G>T p.G1065W Substitution - Missense 1:10178698-10178698 + ESCC_162 COSM5647758 c.3503C>T p.A1168V Substitution - Missense 1:10171307-10171307 + TCGA-D5-6930-01 COSM1332042 c.1709G>A p.R570Q Substitution - Missense 1:10130513-10130513 + T3059 COSM4738752 c.1609G>A p.D537N Substitution - Missense 1:10126848-10126848 + TCGA-FW-A3R5-06 COSM3862035 c.267C>T p.P89P Substitution - coding silent 1:10095516-10095516 + PCSI_0476_Pa_P_526 COSM5031460 c.480G>A p.Q160Q Substitution - coding silent 1:10102992-10102992 + TCGA-BR-8078-01 COSM4019903 c.1788G>A p.T596T Substitution - coding silent 1:10135137-10135137 + TCGA-A3-3349-01 COSM462483 c.1040T>C p.L347P Substitution - Missense 1:10119601-10119601 + TCGA-FW-A3R5-06 COSM3862045 c.2845C>T p.Q949* Substitution - Nonsense 1:10168169-10168169 + TCGA-AP-A059-01 COSM893039 c.1651C>T p.L551F Substitution - Missense 1:10129404-10129404 + TCGA-DO-A2HM-01 COSM3369156 c.2652T>C p.Y884Y Substitution - coding silent 1:10149244-10149244 + CSCC-27-T COSM1953393 c.504C>T p.V168V Substitution - coding silent 1:10103016-10103016 + TCGA-HU-A4GQ-01 COSM4019885 c.444C>A p.S148S Substitution - coding silent 1:10102956-10102956 + 1517_PT COSM5754117 c.122C>A p.P41H Substitution - Missense 1:10072125-10072125 + OSCC-GB_00610111 COSM4886851 c.1312G>T p.G438* Substitution - Nonsense 1:10117574-10117574 + TCGA-EK-A3GK-01 COSM4852709 c.2144G>C p.R715T Substitution - Missense 1:10135106-10135106 + LUAD-B02216 COSM335500 c.2303C>T p.S768F Substitution - Missense 1:10137145-10137145 + 8067926 COSM4389352 c.664T>C p.F222L Substitution - Missense 1:10105599-10105599 + TCGA-22-4595-01 COSM674706 c.2194G>A p.A732T Substitution - Missense 1:10147080-10147080 + TCGA-A8-A09Z-01 COSM3801056 c.499C>A p.R167S Substitution - Missense 1:10103011-10103011 + Pat_24_A COSM5842882 c.499C>T p.R167C Substitution - Missense 1:10103011-10103011 + LP6007414-DNA_A02 COSM893023 c.285G>A p.T95T Substitution - coding silent 1:10095534-10095534 + TCGA-D8-A1J9-01 COSM1472341 c.1377C>G p.L459L Substitution - coding silent 1:10130568-10130568 + TCGA-BS-A0UF-01 COSM893042 c.1316C>A p.S439Y Substitution - Missense 1:10130507-10130507 + CSCC-29-T COSM4452596 c.1997A>T p.N666I Substitution - Missense 1:10132454-10132454 + 169T COSM1725028 c.2567_2568insG p.F857fs*3 Insertion - Frameshift 1:10158383-10158384 + LUAD-B02216 COSM335501 c.1916C>T p.S639F Substitution - Missense 1:10137145-10137145 + TCGA-22-4595-01 COSM674705 c.2581G>A p.A861T Substitution - Missense 1:10147080-10147080 + TCGA-CH-5754-01 COSM1127513 c.3468G>A p.T1156T Substitution - coding silent 1:10171272-10171272 + TCGA-DC-6681-01 COSM1560156 c.3346C>T p.R1116* Substitution - Nonsense 1:10171150-10171150 + RK027_C01 COSM1626246 c.56G>T p.G19V Substitution - Missense 1:10072059-10072059 + 1N51-VS-1T51 COSM4976595 c.717A>G p.P239P Substitution - coding silent 1:10105652-10105652 + TCGA-B0-5075-01 COSM674706 c.2194G>A p.A732T Substitution - Missense 1:10147080-10147080 + HN_62624 COSM127007 c.340G>T p.E114* Substitution - Nonsense 1:10095589-10095589 + TCGA-EW-A3U0-01 COSM3801073 c.3310G>T p.V1104F Substitution - Missense 1:10168247-10168247 + HCC130T COSM1600425 c.529G>A p.V177I Substitution - Missense 1:10103041-10103041 + BN49T COSM1600424 c.481C>T p.L161L Substitution - coding silent 1:10102993-10102993 + TCGA-AN-A03X-01 COSM423324 c.1623T>C p.F541F Substitution - coding silent 1:10126862-10126862 + TCGA-04-1364-01 COSM78741 c.3109C>T p.R1037W Substitution - Missense 1:10171300-10171300 + sysucc-1163T COSM5458162 c.2795C>T p.A932V Substitution - Missense 1:10151430-10151430 + CSB7 COSM233699 c.3143C>T p.S1048F Substitution - Missense 1:10178648-10178648 + TCGA-EE-A20C-06 COSM3862039 c.1727C>T p.S576F Substitution - Missense 1:10130531-10130531 + TCGA-EB-A3XB-01 COSM3470377 c.3265C>T p.L1089L Substitution - coding silent 1:10168202-10168202 + TCGA-FW-A3R5-06 COSM3862050 c.3501C>T p.F1167F Substitution - coding silent 1:10171305-10171305 + CHC1083T COSM4943245 c.3661G>A p.A1221T Substitution - Missense 1:10178779-10178779 + CHOL50 COSM1744684 c.523A>T p.R175* Substitution - Nonsense 1:10103035-10103035 + RK025_C01 COSM1626251 c.2444G>T p.R815L Substitution - Missense 1:10145020-10145020 + TCGA-BR-4370-01 COSM4019910 c.2318C>T p.A773V Substitution - Missense 1:10151340-10151340 + TCGA-CA-6717-01 COSM1332060 c.3132T>C p.S1044S Substitution - coding silent 1:10161220-10161220 + A673 COSM4576056 c.2935C>T p.H979Y Substitution - Missense 1:10158364-10158364 + A9 COSM5349929 c.2973G>A p.M991I Substitution - Missense 1:10171164-10171164 + TCGA-EE-A2GC-06 COSM3470333 c.406C>T p.R136* Substitution - Nonsense 1:10101166-10101166 + TCGA-A6-2676-01 COSM291189 c.2466_2467insT p.E825fs*1 Insertion - Frameshift 1:10151488-10151489 + TCGA-AY-6196-01 COSM1332056 c.2856T>G p.F952L Substitution - Missense 1:10151491-10151491 + SNUH_G10_S1 COSM3996710 c.1326G>C p.L442F Substitution - Missense 1:10130517-10130517 + CSCC-37-T COSM4568601 c.847T>C p.Y283H Substitution - Missense 1:10117496-10117496 + RK025_C COSM1626252 c.2057G>T p.R686L Substitution - Missense 1:10145020-10145020 + TCGA-ER-A19N-06 COSM3470337 c.921C>T p.S307S Substitution - coding silent 1:10106308-10106308 + PT35 COSM4478732 c.2260C>T p.P754S Substitution - Missense 1:10137102-10137102 + TCGA-CH-5788-01 COSM674706 c.2194G>A p.A732T Substitution - Missense 1:10147080-10147080 + TCGA-CK-5916-01 COSM1332046 c.1953C>T p.G651G Substitution - coding silent 1:10132410-10132410 + HCC063T COSM5812323 c.580+3A>T p.? Unknown 1:10103095-10103095 + YULAN COSM1686974 c.3238G>A p.E1080K Substitution - Missense 1:10178743-10178743 + TARGET-20-PARGVC-03A-04D COSM5487546 c.3571C>T p.R1191W Substitution - Missense 1:10178689-10178689 + HCC130 COSM1600425 c.529G>A p.V177I Substitution - Missense 1:10103041-10103041 + TCGA-A8-A0A6-01 COSM3801049 c.111T>C p.P37P Substitution - coding silent 1:10072114-10072114 + TCGA-HU-A4GQ-01 COSM4019884 c.444C>A p.S148S Substitution - coding silent 1:10102956-10102956 + TCGA-G2-A2ES-01 COSM1294628 c.3330C>G p.T1110T Substitution - coding silent 1:10179432-10179432 + SC_9047 COSM5557441 c.199A>G p.I67V Substitution - Missense 1:10072202-10072202 + TCGA-FW-A3R5-06 COSM3862044 c.3232C>T p.Q1078* Substitution - Nonsense 1:10168169-10168169 + ESCC_168 COSM5648655 c.2869G>C p.E957Q Substitution - Missense 1:10151504-10151504 + CSCC-44-T COSM4480516 c.2040C>T p.H680H Substitution - coding silent 1:10145003-10145003 + T3724 COSM1953519 c.1842C>T p.G614G Substitution - coding silent 1:10137071-10137071 + TCGA-AZ-6605-01 COSM1332045 c.1323G>C p.R441R Substitution - coding silent 1:10130514-10130514 + PD18279a COSM3770241 c.3660C>T p.R1220R Substitution - coding silent 1:10178778-10178778 + 8067926 COSM4389353 c.664T>C p.F222L Substitution - Missense 1:10105599-10105599 + H1155 COSM1195783 c.128C>T p.A43V Substitution - Missense 1:10072131-10072131 + TCGA-D8-A1Y0-01 COSM1472336 c.569A>G p.N190S Substitution - Missense 1:10103081-10103081 + TCGA-AN-A046-01 COSM3801065 c.2333G>A p.R778H Substitution - Missense 1:10137175-10137175 + TCGA-BF-A1PZ-01 COSM4399292 c.2607C>T p.T869T Substitution - coding silent 1:10158423-10158423 + CRC-02T COSM5455941 c.801_802delTT p.L268fs*2 Deletion - Frameshift 1:10105736-10105737 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.593974 1p36.3 613565 2388726|CGAP|BC093696|A/C|coding|Pro1140Thr|3495|Candidate; 2388729|CGAP|BC093696|C/T|coding|Ser855Ser|2642|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K164T c.491A>C 1 10163061 RCCC A C Missense p.N1140T c.3419A>C 1 10231281 STAD A - Frameshift p.A444Hfs*14 c.1329delA 1 10177642 STAD - A Frameshift p.A444Sfs*52 c.1329dupA 1 10177642 BRCA A G IntronicSNV . c.212-4725A>G 1 10150794 CLL A G IntronicSNV . c.24+206A>G 1 10093958 CLL A G Missense p.E441G c.1322A>G 1 10177642 ESCA A G Missense p.M546V c.1636A>G 1 10186933 STAD A G Missense p.N190S c.569A>G 1 10163139 BRCA A G Missense p.N921D c.2761A>G 1 10211454 BLCA A G Synonymous p.A444A c.1332A>G 1 10177652 CLL A G Synonymous p.L379L c.1137A>G 1 10166582 LUAD A G Synonymous p.P747P c.2241A>G 1 10197141 LUAD A T Missense p.E152D c.456A>T 1 10163026 RCCC A T Missense p.N942I c.2825A>T 1 10211518 HNSC A T Missense p.Q852L c.2555A>T 1 10207112 LUAD A T Synonymous p.A1193A c.3579A>T 1 10238755 LUAD A T Synonymous p.A878A c.2634A>T 1 10209284 LUAD CAGAGAG - Frameshift p.E1277Cfs*8 c.3829_3835delGAGAGCA 1 10239600 LUAD C A Synonymous p.P32P c.96C>A 1 10132157 HNSC C G CdsStopSNV . c.3906C>G 1 10240011 CM C G Synonymous p.A531A c.1593C>G 1 10186890 BRCA C G Synonymous p.G651G c.1953C>G 1 10192468 GBM C G Synonymous p.L271L c.813C>G 1 10166258 BLCA C G Synonymous p.L271L c.813C>G 1 10166258 BRCA C G Synonymous p.L545L c.1635C>G 1 10186932 BLCA C G Synonymous p.L588L c.1764C>G 1 10190626 BRCA C G Synonymous p.P1065P c.3195C>G 1 10221341 CM C G Synonymous p.T1239T c.3717C>G 1 10239490 BLCA C T Missense p.A879V c.2636C>T 1 10209286 HNSC C T Missense p.A902V c.2705C>T 1 10211398 STAD C T Missense p.H713Y c.2137C>T 1 10195157 CM C T Missense p.L767F c.2299C>T 1 10197199 CM C T Missense p.P296L c.887C>T 1 10166332 CM C T Missense p.P372L c.1115C>T 1 10166560 CM C T Missense p.P384L c.1151C>T 1 10166596 SCLC C T Missense p.P66S c.196C>T 1 10132257 CM C T Missense p.P804S c.2410C>T 1 10205044 CM C T Missense p.P968L c.2903C>T 1 10211596 LUAD C T Missense p.R1066W c.3196C>T 1 10221342 RCCC C T Missense p.R1166W c.3496C>T 1 10231358 OV C T Missense p.R11W c.31C>T 1 10132092 COREAD C T Missense p.R461C c.1381C>T 1 10179613 STAD C T Missense p.R775C c.2323C>T 1 10197223 CM C T Missense p.R815C c.2443C>T 1 10205077 BRCA C T Missense p.S1177F c.3530C>T 1 10238706 BRCA C T Missense p.S368F c.1103C>T 1 10166548 BLCA C T Missense p.S535F c.1604C>T 1 10186901 CM C T Missense p.S576F c.1727C>T 1 10190589 CM C T Missense p.S969F c.2906C>T 1 10211599 CM C T Nonsense p.Q33* c.97C>T 1 10132158 CM C T Nonsense p.R1047* c.3139C>T 1 10221285 GBM C T Nonsense p.R136* c.406C>T 1 10161224 CM C T Synonymous p.D836D c.2508C>T 1 10207065 STAD C T Synonymous p.F690F c.2070C>T 1 10195090 CM C T Synonymous p.I777I c.2331C>T 1 10197231 CM C T Synonymous p.L356L c.1068C>T 1 10166513 CM C T Synonymous p.L497L c.1491C>T 1 10182071 CM C T Synonymous p.P332P c.996C>T 1 10166441 UCEC C T Synonymous p.S307S c.921C>T 1 10166366 CM C T Synonymous p.T998T c.2994C>T 1 10218481 CM G A IntronicSNV . c.2364-103G>A 1 10204895 CLL G A Missense p.A1168T c.3502G>A 1 10231364 BRCA G A Missense p.A357T c.1069G>A 1 10166514 STAD G A Missense p.A601T c.1801G>A 1 10190663 UCEC G A Missense p.A861T c.2581G>A 1 10207138 LUSC G A Missense p.A861T c.2581G>A 1 10207138 PRAD G A Missense p.E1080K c.3238G>A 1 10228233 LUSC G A Missense p.G248D c.743G>A 1 10165736 LUSC G A Missense p.G500D c.1499G>A 1 10182079 LGG G A Missense p.G68D c.203G>A 1 10132264 COREAD G A Missense p.M106I c.318G>A 1 10155625 LUAD G A Missense p.R136Q c.407G>A 1 10161225 BRCA G A Missense p.R371K c.1112G>A 1 10166557 RCCC G A Missense p.V665I c.1993G>A 1 10192508 COREAD G A Synonymous p.E1209E c.3627G>A 1 10238803 CM G A Synonymous p.E1296E c.3888G>A 1 10239993 HNSC G A Synonymous p.G614G c.1842G>A 1 10190802 UCEC G A Synonymous p.L840L c.2520G>A 1 10207077 HNSC G A Synonymous p.T1156T c.3468G>A 1 10231330 PRAD G A Synonymous p.T709T c.2127G>A 1 10195147 BRCA G C 3-UTRSNV . c.3906+148G>C 1 10240159 CM G C Synonymous p.G1194G c.3582G>C 1 10238758 OV GGG - InFrameDeletion p.G1194delG c.3580_3582delGGG 1 10238756 RCCC G T Missense p.G19V c.56G>T 1 10132117 HC G T Missense p.R815L c.2444G>T 1 10205078 HC G T Nonsense p.E114* c.340G>T 1 10155647 HNSC G T Nonsense p.E837* c.2509G>T 1 10207066 LUAD T A IntronicSNV . c.3054-587T>A 1 10220613 CLL T C Missense p.L527P c.1580T>C 1 10186877 PRAD T C Missense p.M1055T c.3164T>C 1 10221310 COREAD T C Missense p.S475P c.1423T>C 1 10179655 PAAD T C Missense p.V335A c.1004T>C 1 10166449 UCEC T C Synonymous p.F541F c.1623T>C 1 10186920 BRCA T C Synonymous p.Y884Y c.2652T>C 1 10209302 THCA