Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 1 55544257 55544257 + Missense_Mutation SNP C C T TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr1:55544257C>T c.7268G>A c.(7267-7269)tGt>tAt p.C2423Y BLCA 1 55549036 55549036 + Splice_Site SNP T T G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 g.chr1:55549036T>G c.6884A>C c.(6883-6885)cAa>cCa p.Q2295P BLCA 1 55551623 55551623 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 g.chr1:55551623G>C c.6757C>G c.(6757-6759)Cag>Gag p.Q2253E BLCA 1 55555414 55555414 + Splice_Site SNP C C G TCGA-2F-A9KT-01A-11D-A38G-08 TCGA-2F-A9KT-10A-01D-A38J-08 g.chr1:55555414C>G c.e55-1 BLCA 1 55562240 55562240 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 g.chr1:55562240C>A c.5992G>T c.(5992-5994)Gac>Tac p.D1998Y BLCA 1 55562761 55562761 + Nonsense_Mutation SNP G G A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 g.chr1:55562761G>A c.5800C>T c.(5800-5802)Cga>Tga p.R1934* BLCA 1 55566515 55566515 + Nonsense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr1:55566515C>T c.5268G>A c.(5266-5268)tgG>tgA p.W1756* BLCA 1 55595163 55595163 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 g.chr1:55595163C>G c.3622G>C c.(3622-3624)Gct>Cct p.A1208P BLCA 1 55595217 55595217 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr1:55595217C>T c.3568G>A c.(3568-3570)Gat>Aat p.D1190N BLCA 1 55604640 55604640 + Missense_Mutation SNP C C T TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr1:55604640C>T c.2794G>A c.(2794-2796)Gag>Aag p.E932K BLCA 1 55607317 55607317 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 g.chr1:55607317C>T c.2722G>A c.(2722-2724)Gta>Ata p.V908I BLCA 1 55612664 55612664 + Missense_Mutation SNP G G A TCGA-4Z-AA80-01A-11D-A391-08 TCGA-4Z-AA80-10A-01D-A394-08 g.chr1:55612664G>A c.2188C>T c.(2188-2190)Cgt>Tgt p.R730C BLCA 1 55622627 55622627 + Silent SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 g.chr1:55622627C>T c.1440G>A c.(1438-1440)aaG>aaA p.K480K BLCA 1 55627909 55627909 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr1:55627909C>T c.956G>A c.(955-957)gGa>gAa p.G319E BLCA 1 55638085 55638085 + Missense_Mutation SNP G G C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 g.chr1:55638085G>C c.667C>G c.(667-669)Cca>Gca p.P223A BLCA 1 55638157 55638157 + Missense_Mutation SNP C C T TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr1:55638157C>T c.595G>A c.(595-597)Gaa>Aaa p.E199K BRCA 1 55537548 55537548 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr1:55537548C>T c.7739G>A c.(7738-7740)gGa>gAa p.G2580E BRCA 1 55546997 55546997 + Missense_Mutation SNP A A T TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr1:55546997A>T c.7076T>A c.(7075-7077)gTt>gAt p.V2359D BRCA 1 55555340 55555340 + Missense_Mutation SNP C C T TCGA-E2-A1LH-01A-11D-A14G-09 TCGA-E2-A1LH-11A-22D-A14G-09 g.chr1:55555340C>T c.6628G>A c.(6628-6630)Gtt>Att p.V2210I BRCA 1 55566622 55566622 + Missense_Mutation SNP C C T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 g.chr1:55566622C>T c.5161G>A c.(5161-5163)Gat>Aat p.D1721N BRCA 1 55572941 55572941 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 g.chr1:55572941G>A c.4733C>T c.(4732-4734)tCa>tTa p.S1578L BRCA 1 55589148 55589148 + Silent SNP C C T TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 g.chr1:55589148C>T c.4248G>A c.(4246-4248)acG>acA p.T1416T BRCA 1 55589159 55589159 + Missense_Mutation SNP G G A TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 g.chr1:55589159G>A c.4237C>T c.(4237-4239)Ctt>Ttt p.L1413F BRCA 1 55589232 55589232 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr1:55589232C>T c.4164G>A c.(4162-4164)ctG>ctA p.L1388L BRCA 1 55591335 55591335 + Splice_Site SNP C C A TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 g.chr1:55591335C>A c.e33+1 BRCA 1 55619828 55619828 + Silent SNP C C T TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 g.chr1:55619828C>T c.1776G>A c.(1774-1776)agG>agA p.R592R BRCA 1 55637338 55637338 + Missense_Mutation SNP T T C TCGA-E9-A1NG-01A-21D-A14K-09 TCGA-E9-A1NG-10A-01D-A14K-09 g.chr1:55637338T>C c.716A>G c.(715-717)gAt>gGt p.D239G CESC 1 55538465 55538465 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 g.chr1:55538465C>G c.7596G>C c.(7594-7596)caG>caC p.Q2532H CESC 1 55539505 55539505 + Nonsense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 g.chr1:55539505G>A c.7522C>T c.(7522-7524)Caa>Taa p.Q2508* CESC 1 55569602 55569602 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr1:55569602C>A c.4972G>T c.(4972-4974)Gaa>Taa p.E1658* CESC 1 55586325 55586325 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr1:55586325G>A c.4452C>T c.(4450-4452)ctC>ctT p.L1484L CESC 1 55624561 55624561 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr1:55624561G>T c.1217C>A c.(1216-1218)tCt>tAt p.S406Y CESC 1 55624600 55624600 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 g.chr1:55624600C>T c.1178G>A c.(1177-1179)cGc>cAc p.R393H CESC 1 55680734 55680734 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr1:55680734G>C c.53C>G c.(52-54)tCa>tGa p.S18* COAD 1 55537532 55537532 + Silent SNP C C T TCGA-AA-A02K-01A-21W-A096-10 TCGA-AA-A02K-10A-01W-A096-10 g.chr1:55537532C>T c.7755G>A c.(7753-7755)tcG>tcA p.S2585S COAD 1 55537534 55537534 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:55537534A>G c.7753T>C c.(7753-7755)Tcg>Ccg p.S2585P COAD 1 55537581 55537581 + Missense_Mutation SNP G G A TCGA-AA-3842-01A-01W-0995-10 TCGA-AA-3842-10A-01W-0995-10 g.chr1:55537581G>A c.7706C>T c.(7705-7707)gCc>gTc p.A2569V COAD 1 55544263 55544263 + Missense_Mutation SNP T T C TCGA-AA-3511-01A-21D-1835-10 TCGA-AA-3511-11A-01D-1835-10 g.chr1:55544263T>C c.7262A>G c.(7261-7263)tAc>tGc p.Y2421C COAD 1 55557715 55557715 + Missense_Mutation SNP G G A TCGA-CA-5797-01A-01D-1650-10 TCGA-CA-5797-10A-01D-1650-10 g.chr1:55557715G>A c.6535C>T c.(6535-6537)Cgg>Tgg p.R2179W COAD 1 55558494 55558494 + Splice_Site SNP A A G TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr1:55558494A>G c.6450T>C c.(6448-6450)gcT>gcC p.A2150A COAD 1 55558494 55558494 + Splice_Site SNP A A G TCGA-DM-A1D6-01A-21D-A152-10 TCGA-DM-A1D6-10A-01D-A152-10 g.chr1:55558494A>G c.6450T>C c.(6448-6450)gcT>gcC p.A2150A COAD 1 55558494 55558494 + Splice_Site SNP A A G TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr1:55558494A>G c.6450T>C c.(6448-6450)gcT>gcC p.A2150A COAD 1 55562227 55562227 + Missense_Mutation SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr1:55562227T>C c.6005A>G c.(6004-6006)gAg>gGg p.E2002G COAD 1 55563298 55563298 + Silent SNP G G C TCGA-AA-3819-01A-01W-0900-09 TCGA-AA-3819-10A-01W-0900-09 g.chr1:55563298G>C c.5688C>G c.(5686-5688)cgC>cgG p.R1896R COAD 1 55563368 55563368 + Missense_Mutation SNP C C G TCGA-AZ-6606-01A-11D-1835-10 TCGA-AZ-6606-11A-01D-1835-10 g.chr1:55563368C>G c.5618G>C c.(5617-5619)tGt>tCt p.C1873S COAD 1 55564161 55564161 + Missense_Mutation SNP T T C TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr1:55564161T>C c.5441A>G c.(5440-5442)gAc>gGc p.D1814G COAD 1 55566586 55566586 + Frame_Shift_Del DEL A A - TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr1:55566586delA c.5197delT c.(5197-5199)tacfs p.Y1733fs COAD 1 55571904 55571904 + Missense_Mutation SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr1:55571904A>G c.4795T>C c.(4795-4797)Ttc>Ctc p.F1599L COAD 1 55571904 55571904 + Missense_Mutation SNP A A G TCGA-CM-6680-01A-11D-1835-10 TCGA-CM-6680-10A-01D-1835-10 g.chr1:55571904A>G c.4795T>C c.(4795-4797)Ttc>Ctc p.F1599L COAD 1 55571904 55571904 + Missense_Mutation SNP A A G TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr1:55571904A>G c.4795T>C c.(4795-4797)Ttc>Ctc p.F1599L COAD 1 55586426 55586426 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:55586426G>A c.4351C>T c.(4351-4353)Cgc>Tgc p.R1451C COAD 1 55590163 55590163 + Nonsense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:55590163G>A c.4099C>T c.(4099-4101)Cga>Tga p.R1367* COAD 1 55590240 55590240 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:55590240G>A c.4022C>T c.(4021-4023)gCg>gTg p.A1341V COAD 1 55591191 55591191 + Silent SNP C C T TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr1:55591191C>T c.3762G>A c.(3760-3762)acG>acA p.T1254T COAD 1 55591208 55591208 + Missense_Mutation SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr1:55591208C>T c.3745G>A c.(3745-3747)Gga>Aga p.G1249R COAD 1 55598247 55598247 + Missense_Mutation SNP A A G TCGA-CM-6167-01A-11D-1650-10 TCGA-CM-6167-10A-01D-1650-10 g.chr1:55598247A>G c.3508T>C c.(3508-3510)Tct>Cct p.S1170P COAD 1 55598247 55598247 + Missense_Mutation SNP A A G TCGA-DM-A282-01A-12D-A16V-10 TCGA-DM-A282-10A-01D-A16V-10 g.chr1:55598247A>G c.3508T>C c.(3508-3510)Tct>Cct p.S1170P COAD 1 55598247 55598247 + Missense_Mutation SNP A A G TCGA-G4-6323-01A-11D-1719-10 TCGA-G4-6323-10A-01D-1720-10 g.chr1:55598247A>G c.3508T>C c.(3508-3510)Tct>Cct p.S1170P COAD 1 55600045 55600045 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:55600045G>A c.3243C>T c.(3241-3243)aaC>aaT p.N1081N COAD 1 55603290 55603290 + Silent SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr1:55603290C>T c.3099G>A c.(3097-3099)aaG>aaA p.K1033K COAD 1 55603309 55603309 + Missense_Mutation SNP T T C TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr1:55603309T>C c.3080A>G c.(3079-3081)gAa>gGa p.E1027G COAD 1 55603310 55603310 + Missense_Mutation SNP C C T TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr1:55603310C>T c.3079G>A c.(3079-3081)Gaa>Aaa p.E1027K COAD 1 55603547 55603547 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr1:55603547G>A c.2959C>T c.(2959-2961)Cgg>Tgg p.R987W COAD 1 55607328 55607328 + Missense_Mutation SNP G G A TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr1:55607328G>A c.2711C>T c.(2710-2712)gCc>gTc p.A904V COAD 1 55612632 55612632 + Silent SNP A A G TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr1:55612632A>G c.2220T>C c.(2218-2220)acT>acC p.T740T COAD 1 55612634 55612634 + Missense_Mutation SNP T T C TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chr1:55612634T>C c.2218A>G c.(2218-2220)Act>Gct p.T740A COAD 1 55612634 55612634 + Missense_Mutation SNP T T C TCGA-DM-A1D8-01A-11D-A152-10 TCGA-DM-A1D8-10A-01D-A152-10 g.chr1:55612634T>C c.2218A>G c.(2218-2220)Act>Gct p.T740A COAD 1 55614160 55614160 + Silent SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:55614160T>C c.1944A>G c.(1942-1944)aaA>aaG p.K648K COAD 1 55619561 55619562 + Frame_Shift_Ins INS - - T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr1:55619561_55619562insT c.1841_1842insA c.(1840-1842)aacfs p.N614fs COAD 1 55619562 55619562 + Frame_Shift_Del DEL T T - TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr1:55619562delT c.1841delA c.(1840-1842)aacfs p.N614fs COAD 1 55620045 55620045 + Splice_Site SNP T T A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr1:55620045T>A c.1649A>T c.(1648-1650)aAg>aTg p.K550M COAD 1 55622702 55622702 + Nonsense_Mutation SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:55622702G>T c.1365C>A c.(1363-1365)taC>taA p.Y455* COAD 1 55624692 55624692 + Silent SNP A A G TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr1:55624692A>G c.1086T>C c.(1084-1086)ccT>ccC p.P362P COAD 1 55624693 55624693 + Missense_Mutation SNP G G A TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr1:55624693G>A c.1085C>T c.(1084-1086)cCt>cTt p.P362L COAD 1 55624694 55624694 + Missense_Mutation SNP G G A TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr1:55624694G>A c.1084C>T c.(1084-1086)Cct>Tct p.P362S COADREAD 1 55537532 55537532 + Silent SNP C C T TCGA-AA-A02K-01A-21W-A096-10 TCGA-AA-A02K-10A-01W-A096-10 g.chr1:55537532C>T c.7755G>A c.(7753-7755)tcG>tcA p.S2585S COADREAD 1 55537534 55537534 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:55537534A>G c.7753T>C c.(7753-7755)Tcg>Ccg p.S2585P COADREAD 1 55537581 55537581 + Missense_Mutation SNP G G A TCGA-AA-3842-01A-01W-0995-10 TCGA-AA-3842-10A-01W-0995-10 g.chr1:55537581G>A c.7706C>T c.(7705-7707)gCc>gTc p.A2569V COADREAD 1 55544263 55544263 + Missense_Mutation SNP T T C TCGA-AA-3511-01A-21D-1835-10 TCGA-AA-3511-11A-01D-1835-10 g.chr1:55544263T>C c.7262A>G c.(7261-7263)tAc>tGc p.Y2421C COADREAD 1 55557715 55557715 + Missense_Mutation SNP G G A TCGA-CA-5797-01A-01D-1650-10 TCGA-CA-5797-10A-01D-1650-10 g.chr1:55557715G>A c.6535C>T c.(6535-6537)Cgg>Tgg p.R2179W COADREAD 1 55558494 55558494 + Splice_Site SNP A A G TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr1:55558494A>G c.6450T>C c.(6448-6450)gcT>gcC p.A2150A COADREAD 1 55558494 55558494 + Splice_Site SNP A A G TCGA-DM-A1D6-01A-21D-A152-10 TCGA-DM-A1D6-10A-01D-A152-10 g.chr1:55558494A>G c.6450T>C c.(6448-6450)gcT>gcC p.A2150A COADREAD 1 55558494 55558494 + Splice_Site SNP A A G TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr1:55558494A>G c.6450T>C c.(6448-6450)gcT>gcC p.A2150A COADREAD 1 55562227 55562227 + Missense_Mutation SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr1:55562227T>C c.6005A>G c.(6004-6006)gAg>gGg p.E2002G COADREAD 1 55563298 55563298 + Silent SNP G G C TCGA-AA-3819-01A-01W-0900-09 TCGA-AA-3819-10A-01W-0900-09 g.chr1:55563298G>C c.5688C>G c.(5686-5688)cgC>cgG p.R1896R COADREAD 1 55563368 55563368 + Missense_Mutation SNP C C G TCGA-AZ-6606-01A-11D-1835-10 TCGA-AZ-6606-11A-01D-1835-10 g.chr1:55563368C>G c.5618G>C c.(5617-5619)tGt>tCt p.C1873S COADREAD 1 55564161 55564161 + Missense_Mutation SNP T T C TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr1:55564161T>C c.5441A>G c.(5440-5442)gAc>gGc p.D1814G COADREAD 1 55566586 55566586 + Frame_Shift_Del DEL A A - TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr1:55566586delA c.5197delT c.(5197-5199)tacfs p.Y1733fs COADREAD 1 55571904 55571904 + Missense_Mutation SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr1:55571904A>G c.4795T>C c.(4795-4797)Ttc>Ctc p.F1599L COADREAD 1 55571904 55571904 + Missense_Mutation SNP A A G TCGA-CM-6680-01A-11D-1835-10 TCGA-CM-6680-10A-01D-1835-10 g.chr1:55571904A>G c.4795T>C c.(4795-4797)Ttc>Ctc p.F1599L COADREAD 1 55571904 55571904 + Missense_Mutation SNP A A G TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr1:55571904A>G c.4795T>C c.(4795-4797)Ttc>Ctc p.F1599L COADREAD 1 55586426 55586426 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:55586426G>A c.4351C>T c.(4351-4353)Cgc>Tgc p.R1451C COADREAD 1 55586426 55586426 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:55586426G>A c.4351C>T c.(4351-4353)Cgc>Tgc p.R1451C COADREAD 1 55590163 55590163 + Nonsense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:55590163G>A c.4099C>T c.(4099-4101)Cga>Tga p.R1367* COADREAD 1 55590240 55590240 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:55590240G>A c.4022C>T c.(4021-4023)gCg>gTg p.A1341V COADREAD 1 55591073 55591073 + Missense_Mutation SNP A A G TCGA-AG-3731-01A-11D-1733-10 TCGA-AG-3731-11A-01D-1733-10 g.chr1:55591073A>G c.3880T>C c.(3880-3882)Tcc>Ccc p.S1294P COADREAD 1 55591191 55591191 + Silent SNP C C T TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr1:55591191C>T c.3762G>A c.(3760-3762)acG>acA p.T1254T COADREAD 1 55591208 55591208 + Missense_Mutation SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr1:55591208C>T c.3745G>A c.(3745-3747)Gga>Aga p.G1249R COADREAD 1 55598247 55598247 + Missense_Mutation SNP A A G TCGA-CM-6167-01A-11D-1650-10 TCGA-CM-6167-10A-01D-1650-10 g.chr1:55598247A>G c.3508T>C c.(3508-3510)Tct>Cct p.S1170P COADREAD 1 55598247 55598247 + Missense_Mutation SNP A A G TCGA-DM-A282-01A-12D-A16V-10 TCGA-DM-A282-10A-01D-A16V-10 g.chr1:55598247A>G c.3508T>C c.(3508-3510)Tct>Cct p.S1170P COADREAD 1 55598247 55598247 + Missense_Mutation SNP A A G TCGA-G4-6323-01A-11D-1719-10 TCGA-G4-6323-10A-01D-1720-10 g.chr1:55598247A>G c.3508T>C c.(3508-3510)Tct>Cct p.S1170P COADREAD 1 55600045 55600045 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:55600045G>A c.3243C>T c.(3241-3243)aaC>aaT p.N1081N COADREAD 1 55603290 55603290 + Silent SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr1:55603290C>T c.3099G>A c.(3097-3099)aaG>aaA p.K1033K COADREAD 1 55603309 55603309 + Missense_Mutation SNP T T C TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr1:55603309T>C c.3080A>G c.(3079-3081)gAa>gGa p.E1027G COADREAD 1 55603310 55603310 + Missense_Mutation SNP C C T TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr1:55603310C>T c.3079G>A c.(3079-3081)Gaa>Aaa p.E1027K COADREAD 1 55603547 55603547 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr1:55603547G>A c.2959C>T c.(2959-2961)Cgg>Tgg p.R987W COADREAD 1 55607328 55607328 + Missense_Mutation SNP G G A TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr1:55607328G>A c.2711C>T c.(2710-2712)gCc>gTc p.A904V COADREAD 1 55612632 55612632 + Silent SNP A A G TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr1:55612632A>G c.2220T>C c.(2218-2220)acT>acC p.T740T COADREAD 1 55612632 55612632 + Silent SNP A A G TCGA-EI-6510-01A-11D-1733-10 TCGA-EI-6510-10A-01D-1733-10 g.chr1:55612632A>G c.2220T>C c.(2218-2220)acT>acC p.T740T COADREAD 1 55612633 55612633 + Missense_Mutation SNP G G A TCGA-AH-6643-01A-11D-1826-10 TCGA-AH-6643-11A-01D-1826-10 g.chr1:55612633G>A c.2219C>T c.(2218-2220)aCt>aTt p.T740I COADREAD 1 55612634 55612634 + Missense_Mutation SNP T T C TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chr1:55612634T>C c.2218A>G c.(2218-2220)Act>Gct p.T740A COADREAD 1 55612634 55612634 + Missense_Mutation SNP T T C TCGA-DM-A1D8-01A-11D-A152-10 TCGA-DM-A1D8-10A-01D-A152-10 g.chr1:55612634T>C c.2218A>G c.(2218-2220)Act>Gct p.T740A COADREAD 1 55613373 55613373 + Silent SNP A A G TCGA-CL-5917-01A-11D-1657-10 TCGA-CL-5917-10A-01D-1657-10 g.chr1:55613373A>G c.2067T>C c.(2065-2067)ccT>ccC p.P689P COADREAD 1 55614160 55614160 + Silent SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:55614160T>C c.1944A>G c.(1942-1944)aaA>aaG p.K648K COADREAD 1 55619561 55619562 + Frame_Shift_Ins INS - - T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr1:55619561_55619562insT c.1841_1842insA c.(1840-1842)aacfs p.N614fs COADREAD 1 55619562 55619562 + Frame_Shift_Del DEL T T - TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr1:55619562delT c.1841delA c.(1840-1842)aacfs p.N614fs COADREAD 1 55620045 55620045 + Splice_Site SNP T T A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr1:55620045T>A c.1649A>T c.(1648-1650)aAg>aTg p.K550M COADREAD 1 55622702 55622702 + Nonsense_Mutation SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:55622702G>T c.1365C>A c.(1363-1365)taC>taA p.Y455* COADREAD 1 55623038 55623038 + Silent SNP G G A TCGA-AG-3731-01A-11D-1733-10 TCGA-AG-3731-11A-01D-1733-10 g.chr1:55623038G>A c.1233C>T c.(1231-1233)acC>acT p.T411T COADREAD 1 55624692 55624692 + Silent SNP A A G TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr1:55624692A>G c.1086T>C c.(1084-1086)ccT>ccC p.P362P COADREAD 1 55624693 55624693 + Missense_Mutation SNP G G A TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr1:55624693G>A c.1085C>T c.(1084-1086)cCt>cTt p.P362L COADREAD 1 55624694 55624694 + Missense_Mutation SNP G G A TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr1:55624694G>A c.1084C>T c.(1084-1086)Cct>Tct p.P362S COADREAD 1 55643711 55643711 + Missense_Mutation SNP C C A TCGA-DY-A0XA-01A-11D-A152-10 TCGA-DY-A0XA-10A-01D-A152-10 g.chr1:55643711C>A c.419G>T c.(418-420)tGg>tTg p.W140L DLBC 1 55545240 55545240 + Missense_Mutation SNP T T C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr1:55545240T>C c.7171A>G c.(7171-7173)Atg>Gtg p.M2391V DLBC 1 55549034 55549034 + Missense_Mutation SNP C C T TCGA-GS-A9TW-01A-11D-A382-10 TCGA-GS-A9TW-10A-01D-A385-10 g.chr1:55549034C>T c.6886G>A c.(6886-6888)Gga>Aga p.G2296R DLBC 1 55563349 55563349 + Silent SNP G G A TCGA-G8-6907-01A-11D-2210-10 TCGA-G8-6907-14A-01D-2210-10 g.chr1:55563349G>A c.5637C>T c.(5635-5637)agC>agT p.S1879S DLBC 1 55587126 55587126 + Missense_Mutation SNP C C T TCGA-GS-A9TW-01A-11D-A382-10 TCGA-GS-A9TW-10A-01D-A385-10 g.chr1:55587126C>T c.4330G>A c.(4330-4332)Gga>Aga p.G1444R DLBC 1 55589175 55589175 + Silent SNP C C T TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr1:55589175C>T c.4221G>A c.(4219-4221)gcG>gcA p.A1407A DLBC 1 55622939 55622939 + Missense_Mutation SNP A A C TCGA-RQ-A68N-01A-11D-A31X-10 TCGA-RQ-A68N-10A-01D-A31X-10 g.chr1:55622939A>C c.1332T>G c.(1330-1332)atT>atG p.I444M ESCA 1 55557744 55557744 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 g.chr1:55557744G>T c.6506C>A c.(6505-6507)gCt>gAt p.A2169D ESCA 1 55557762 55557762 + Frame_Shift_Del DEL T T - TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 g.chr1:55557762delT c.6488delA c.(6487-6489)aagfs p.K2163fs ESCA 1 55560968 55560968 + Silent SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 g.chr1:55560968G>T c.6163C>A c.(6163-6165)Cga>Aga p.R2055R ESCA 1 55569688 55569688 + Missense_Mutation SNP C C G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 g.chr1:55569688C>G c.4886G>C c.(4885-4887)aGt>aCt p.S1629T ESCA 1 55573052 55573052 + Missense_Mutation SNP T T G TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 g.chr1:55573052T>G c.4622A>C c.(4621-4623)gAg>gCg p.E1541A ESCA 1 55591178 55591178 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr1:55591178C>T c.3775G>A c.(3775-3777)Gac>Aac p.D1259N ESCA 1 55595244 55595244 + Silent SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 g.chr1:55595244G>A c.3541C>T c.(3541-3543)Cta>Tta p.L1181L ESCA 1 55599820 55599820 + Silent SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 g.chr1:55599820G>T c.3304C>A c.(3304-3306)Cgg>Agg p.R1102R ESCA 1 55612610 55612610 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 g.chr1:55612610C>A c.2242G>T c.(2242-2244)Gat>Tat p.D748Y ESCA 1 55614173 55614173 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr1:55614173C>T c.1931G>A c.(1930-1932)cGc>cAc p.R644H ESCA 1 55620084 55620084 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 g.chr1:55620084C>T c.1610G>A c.(1609-1611)cGa>cAa p.R537Q ESCA 1 55622627 55622627 + Missense_Mutation SNP C C G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 g.chr1:55622627C>G c.1440G>C c.(1438-1440)aaG>aaC p.K480N ESCA 1 55643796 55643796 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 g.chr1:55643796C>T c.334G>A c.(334-336)Gag>Aag p.E112K GBMLGG 1 55560968 55560968 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:55560968G>A c.6163C>T c.(6163-6165)Cga>Tga p.R2055* GBMLGG 1 55561033 55561033 + Missense_Mutation SNP T T G TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 g.chr1:55561033T>G c.6098A>C c.(6097-6099)aAt>aCt p.N2033T GBMLGG 1 55563343 55563343 + Silent SNP C C T TCGA-VW-A8FI-01A-11D-A36O-08 TCGA-VW-A8FI-10A-01D-A367-08 g.chr1:55563343C>T c.5643G>A c.(5641-5643)ttG>ttA p.L1881L GBMLGG 1 55569612 55569612 + Frame_Shift_Del DEL A A - TCGA-DU-A6S2-01A-21D-A32B-08 TCGA-DU-A6S2-10A-01D-A329-08 g.chr1:55569612delA c.4962delT c.(4960-4962)attfs p.I1656fs GBMLGG 1 55590210 55590210 + Missense_Mutation SNP C C A TCGA-DU-7306-01A-11D-2086-08 TCGA-DU-7306-10A-01D-2086-08 g.chr1:55590210C>A c.4052G>T c.(4051-4053)aGt>aTt p.S1351I GBMLGG 1 55598323 55598323 + Silent SNP C C A TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 g.chr1:55598323C>A c.3432G>T c.(3430-3432)ctG>ctT p.L1144L GBMLGG 1 55638164 55638164 + Nonsense_Mutation SNP C C T TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 g.chr1:55638164C>T c.588G>A c.(586-588)tgG>tgA p.W196* HNSC 1 55534753 55534753 + Missense_Mutation SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 g.chr1:55534753C>T c.7828G>A c.(7828-7830)Gag>Aag p.E2610K HNSC 1 55545229 55545229 + Silent SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 g.chr1:55545229C>A c.7182G>T c.(7180-7182)ggG>ggT p.G2394G HNSC 1 55545326 55545326 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr1:55545326C>T c.7085G>A c.(7084-7086)gGc>gAc p.G2362D HNSC 1 55559721 55559721 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr1:55559721G>A c.6243C>T c.(6241-6243)tcC>tcT p.S2081S HNSC 1 55561055 55561055 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 g.chr1:55561055C>T c.6076G>A c.(6076-6078)Gat>Aat p.D2026N HNSC 1 55598230 55598230 + Silent SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 g.chr1:55598230G>C c.3525C>G c.(3523-3525)ctC>ctG p.L1175L HNSC 1 55599818 55599818 + Silent SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 g.chr1:55599818C>T c.3306G>A c.(3304-3306)cgG>cgA p.R1102R HNSC 1 55612663 55612663 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr1:55612663C>T c.2189G>A c.(2188-2190)cGt>cAt p.R730H HNSC 1 55614214 55614214 + Silent SNP T T A TCGA-D6-8568-01A-11D-2394-08 TCGA-D6-8568-10A-01D-2394-08 g.chr1:55614214T>A c.1890A>T c.(1888-1890)gtA>gtT p.V630V KICH 1 55595207 55595207 + Missense_Mutation SNP A A G TCGA-KO-8411-01A-11D-2310-10 TCGA-KO-8411-11A-01D-2311-10 g.chr1:55595207A>G c.3578T>C c.(3577-3579)aTg>aCg p.M1193T KIPAN 1 55551626 55551626 + Frame_Shift_Del DEL A A - TCGA-A3-3313-01A-01D-0966-08 TCGA-A3-3313-11A-01D-0966-08 g.chr1:55551626delA c.6754delT c.(6754-6756)tatfs p.Y2252fs KIPAN 1 55595207 55595207 + Missense_Mutation SNP A A G TCGA-KO-8411-01A-11D-2310-10 TCGA-KO-8411-11A-01D-2311-10 g.chr1:55595207A>G c.3578T>C c.(3577-3579)aTg>aCg p.M1193T KIPAN 1 55603533 55603533 + Silent SNP G G T TCGA-WN-A9G9-01A-12D-A36X-10 TCGA-WN-A9G9-10A-01D-A370-10 g.chr1:55603533G>T c.2973C>A c.(2971-2973)gcC>gcA p.A991A KIPAN 1 55604356 55604356 + Silent SNP A A G TCGA-5P-A9JY-01A-11D-A42J-10 TCGA-5P-A9JY-10A-01D-A42M-10 g.chr1:55604356A>G c.2853T>C c.(2851-2853)caT>caC p.H951H KIPAN 1 55612677 55612677 + Silent SNP A A G TCGA-A4-7996-01A-11D-2201-08 TCGA-A4-7996-10A-01D-2201-08 g.chr1:55612677A>G c.2175T>C c.(2173-2175)taT>taC p.Y725Y KIPAN 1 55619805 55619805 + Missense_Mutation SNP T T G TCGA-CZ-5451-01A-01D-1501-10 TCGA-CZ-5451-11A-01D-1501-10 g.chr1:55619805T>G c.1799A>C c.(1798-1800)gAa>gCa p.E600A KIPAN 1 55638068 55638068 + Silent SNP G G A TCGA-CW-5591-01A-01D-1534-10 TCGA-CW-5591-11A-01D-1535-10 g.chr1:55638068G>A c.684C>T c.(682-684)ctC>ctT p.L228L KIPAN 1 55642115 55642115 + Splice_Site SNP A A T TCGA-CZ-5465-01A-01D-1806-10 TCGA-CZ-5465-11A-01D-1501-10 g.chr1:55642115A>T c.492T>A c.(490-492)ggT>ggA p.G164G KIPAN 1 55642117 55642117 + Splice_Site SNP C C A TCGA-CW-5591-01A-01D-1534-10 TCGA-CW-5591-11A-01D-1535-10 g.chr1:55642117C>A c.e3-1 KIRC 1 55551626 55551626 + Frame_Shift_Del DEL A A - TCGA-A3-3313-01A-01D-0966-08 TCGA-A3-3313-11A-01D-0966-08 g.chr1:55551626delA c.6754delT c.(6754-6756)tatfs p.Y2252fs KIRC 1 55619805 55619805 + Missense_Mutation SNP T T G TCGA-CZ-5451-01A-01D-1501-10 TCGA-CZ-5451-11A-01D-1501-10 g.chr1:55619805T>G c.1799A>C c.(1798-1800)gAa>gCa p.E600A KIRC 1 55638068 55638068 + Silent SNP G G A TCGA-CW-5591-01A-01D-1534-10 TCGA-CW-5591-11A-01D-1535-10 g.chr1:55638068G>A c.684C>T c.(682-684)ctC>ctT p.L228L KIRC 1 55642115 55642115 + Splice_Site SNP A A T TCGA-CZ-5465-01A-01D-1806-10 TCGA-CZ-5465-11A-01D-1501-10 g.chr1:55642115A>T c.492T>A c.(490-492)ggT>ggA p.G164G KIRC 1 55642117 55642117 + Splice_Site SNP C C A TCGA-CW-5591-01A-01D-1534-10 TCGA-CW-5591-11A-01D-1535-10 g.chr1:55642117C>A c.e3-1 KIRP 1 55603533 55603533 + Silent SNP G G T TCGA-WN-A9G9-01A-12D-A36X-10 TCGA-WN-A9G9-10A-01D-A370-10 g.chr1:55603533G>T c.2973C>A c.(2971-2973)gcC>gcA p.A991A KIRP 1 55604356 55604356 + Silent SNP A A G TCGA-5P-A9JY-01A-11D-A42J-10 TCGA-5P-A9JY-10A-01D-A42M-10 g.chr1:55604356A>G c.2853T>C c.(2851-2853)caT>caC p.H951H KIRP 1 55612677 55612677 + Silent SNP A A G TCGA-A4-7996-01A-11D-2201-08 TCGA-A4-7996-10A-01D-2201-08 g.chr1:55612677A>G c.2175T>C c.(2173-2175)taT>taC p.Y725Y LAML 1 55589119 55589119 + Splice_Site SNP C C T TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 g.chr1:55589119C>T c.e36+1 LGG 1 55560968 55560968 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:55560968G>A c.6163C>T c.(6163-6165)Cga>Tga p.R2055* LGG 1 55561033 55561033 + Missense_Mutation SNP T T G TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 g.chr1:55561033T>G c.6098A>C c.(6097-6099)aAt>aCt p.N2033T LGG 1 55563343 55563343 + Silent SNP C C T TCGA-VW-A8FI-01A-11D-A36O-08 TCGA-VW-A8FI-10A-01D-A367-08 g.chr1:55563343C>T c.5643G>A c.(5641-5643)ttG>ttA p.L1881L LGG 1 55569612 55569612 + Frame_Shift_Del DEL A A - TCGA-DU-A6S2-01A-21D-A32B-08 TCGA-DU-A6S2-10A-01D-A329-08 g.chr1:55569612delA c.4962delT c.(4960-4962)attfs p.I1656fs LGG 1 55590210 55590210 + Missense_Mutation SNP C C A TCGA-DU-7306-01A-11D-2086-08 TCGA-DU-7306-10A-01D-2086-08 g.chr1:55590210C>A c.4052G>T c.(4051-4053)aGt>aTt p.S1351I LGG 1 55598323 55598323 + Silent SNP C C A TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 g.chr1:55598323C>A c.3432G>T c.(3430-3432)ctG>ctT p.L1144L LGG 1 55638164 55638164 + Nonsense_Mutation SNP C C T TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 g.chr1:55638164C>T c.588G>A c.(586-588)tgG>tgA p.W196* LIHC 1 55537593 55537593 + Missense_Mutation SNP G G T TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr1:55537593G>T c.7694C>A c.(7693-7695)aCg>aAg p.T2565K LIHC 1 55549487 55549488 + Frame_Shift_Ins INS - - A TCGA-DD-A73G-01A-22D-A32G-10 TCGA-DD-A73G-10A-01D-A32G-10 g.chr1:55549487_55549488insA c.6839_6840insT c.(6838-6840)aacfs p.N2280fs LIHC 1 55603294 55603294 + Missense_Mutation SNP A A G TCGA-G3-A3CG-01A-11D-A20W-10 TCGA-G3-A3CG-10A-01D-A20W-10 g.chr1:55603294A>G c.3095T>C c.(3094-3096)gTg>gCg p.V1032A LIHC 1 55604390 55604390 + Splice_Site SNP T T A TCGA-YA-A8S7-01A-11D-A36X-10 TCGA-YA-A8S7-10A-01D-A370-10 g.chr1:55604390T>A c.2819A>T c.(2818-2820)gAt>gTt p.D940V LIHC 1 55608747 55608747 + Frame_Shift_Del DEL T T - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr1:55608747delT c.2485delA c.(2485-2487)atafs p.I829fs LIHC 1 55609866 55609866 + Missense_Mutation SNP T T A TCGA-DD-AACZ-01A-11D-A40R-10 TCGA-DD-AACZ-10A-01D-A40U-10 g.chr1:55609866T>A c.2373A>T c.(2371-2373)ttA>ttT p.L791F LIHC 1 55619849 55619849 + Silent SNP T T G TCGA-DD-AAD1-01A-11D-A40R-10 TCGA-DD-AAD1-10A-01D-A40U-10 g.chr1:55619849T>G c.1755A>C c.(1753-1755)gcA>gcC p.A585A LIHC 1 55624658 55624658 + Missense_Mutation SNP G G A TCGA-DD-AADG-01A-11D-A40R-10 TCGA-DD-AADG-10A-01D-A40U-10 g.chr1:55624658G>A c.1120C>T c.(1120-1122)Cgc>Tgc p.R374C LUAD 1 55539537 55539537 + Missense_Mutation SNP T T C TCGA-91-6848-01A-11D-1945-08 TCGA-91-6848-11A-01D-1945-08 g.chr1:55539537T>C c.7490A>G c.(7489-7491)tAc>tGc p.Y2497C LUAD 1 55545311 55545311 + Missense_Mutation SNP C C T TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr1:55545311C>T c.7100G>A c.(7099-7101)cGa>cAa p.R2367Q LUAD 1 55548983 55548983 + Missense_Mutation SNP T T A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 g.chr1:55548983T>A c.6937A>T c.(6937-6939)Atc>Ttc p.I2313F LUAD 1 55562208 55562208 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 g.chr1:55562208G>A c.6024C>T c.(6022-6024)tgC>tgT p.C2008C LUAD 1 55562681 55562681 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr1:55562681G>A c.5880C>T c.(5878-5880)atC>atT p.I1960I LUAD 1 55562736 55562736 + Missense_Mutation SNP C C T TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr1:55562736C>T c.5825G>A c.(5824-5826)gGa>gAa p.G1942E LUAD 1 55563650 55563650 + Missense_Mutation SNP C C A TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr1:55563650C>A c.5561G>T c.(5560-5562)aGt>aTt p.S1854I LUAD 1 55563660 55563660 + Missense_Mutation SNP G G T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 g.chr1:55563660G>T c.5551C>A c.(5551-5553)Cta>Ata p.L1851I LUAD 1 55563724 55563724 + Missense_Mutation SNP A A T TCGA-86-8673-01A-11D-2393-08 TCGA-86-8673-10A-01D-2393-08 g.chr1:55563724A>T c.5487T>A c.(5485-5487)aaT>aaA p.N1829K LUAD 1 55566576 55566576 + Missense_Mutation SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 g.chr1:55566576T>A c.5207A>T c.(5206-5208)cAg>cTg p.Q1736L LUAD 1 55567332 55567332 + Frame_Shift_Del DEL C C - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr1:55567332delC c.5070delG c.(5068-5070)gggfs p.G1690fs LUAD 1 55572930 55572930 + Frame_Shift_Del DEL C C - TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr1:55572930delC c.4744delG c.(4744-4746)gcafs p.A1582fs LUAD 1 55589146 55589146 + Missense_Mutation SNP C C A TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr1:55589146C>A c.4250G>T c.(4249-4251)tGc>tTc p.C1417F LUAD 1 55589208 55589208 + Silent SNP T T C TCGA-44-8119-01A-11D-2238-08 TCGA-44-8119-10A-01D-2238-08 g.chr1:55589208T>C c.4188A>G c.(4186-4188)caA>caG p.Q1396Q LUAD 1 55590228 55590228 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 g.chr1:55590228C>T c.4034G>A c.(4033-4035)cGg>cAg p.R1345Q LUAD 1 55591033 55591033 + Missense_Mutation SNP C C A TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr1:55591033C>A c.3920G>T c.(3919-3921)aGg>aTg p.R1307M LUAD 1 55591178 55591178 + Missense_Mutation SNP C C T TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chr1:55591178C>T c.3775G>A c.(3775-3777)Gac>Aac p.D1259N LUAD 1 55598341 55598341 + Silent SNP G G A TCGA-05-4250-01A-01D-1105-08 TCGA-05-4250-10A-01D-1105-08 g.chr1:55598341G>A c.3414C>T c.(3412-3414)tcC>tcT p.S1138S LUAD 1 55604671 55604671 + Silent SNP A A T TCGA-38-6178-01A-11D-1753-08 TCGA-38-6178-10A-01D-1753-08 g.chr1:55604671A>T c.2763T>A c.(2761-2763)ctT>ctA p.L921L LUAD 1 55607342 55607342 + Missense_Mutation SNP C C A TCGA-99-8028-01A-11D-2238-08 TCGA-99-8028-10A-01D-2238-08 g.chr1:55607342C>A c.2697G>T c.(2695-2697)atG>atT p.M899I LUAD 1 55619930 55619930 + Silent SNP C C T TCGA-55-8511-01A-11D-2393-08 TCGA-55-8511-10A-01D-2393-08 g.chr1:55619930C>T c.1674G>A c.(1672-1674)ctG>ctA p.L558L LUAD 1 55622646 55622646 + Missense_Mutation SNP T T A TCGA-78-7542-01A-21D-2063-08 TCGA-78-7542-11A-01D-2063-08 g.chr1:55622646T>A c.1421A>T c.(1420-1422)gAa>gTa p.E474V LUAD 1 55637289 55637289 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr1:55637289C>A c.765G>T c.(763-765)tgG>tgT p.W255C LUSC 1 55544314 55544314 + Missense_Mutation SNP G G C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 g.chr1:55544314G>C c.7211C>G c.(7210-7212)gCt>gGt p.A2404G LUSC 1 55545265 55545265 + Silent SNP A A G TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 g.chr1:55545265A>G c.7146T>C c.(7144-7146)caT>caC p.H2382H LUSC 1 55551676 55551676 + Missense_Mutation SNP C C T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 g.chr1:55551676C>T c.6704G>A c.(6703-6705)cGa>cAa p.R2235Q LUSC 1 55563371 55563371 + Missense_Mutation SNP G G C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 g.chr1:55563371G>C c.5615C>G c.(5614-5616)aCc>aGc p.T1872S LUSC 1 55566598 55566598 + Missense_Mutation SNP C C T TCGA-66-2763-01A-01D-1522-08 TCGA-66-2763-11A-01D-1522-08 g.chr1:55566598C>T c.5185G>A c.(5185-5187)Gat>Aat p.D1729N LUSC 1 55572963 55572963 + Missense_Mutation SNP G G A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 g.chr1:55572963G>A c.4711C>T c.(4711-4713)Cgc>Tgc p.R1571C LUSC 1 55603512 55603512 + Silent SNP C C A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 g.chr1:55603512C>A c.2994G>T c.(2992-2994)gtG>gtT p.V998V LUSC 1 55607343 55607344 + Frame_Shift_Ins INS - - T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 g.chr1:55607343_55607344insT c.2695_2696insA c.(2695-2697)atgfs p.M899fs LUSC 1 55608723 55608723 + Nonsense_Mutation SNP C C A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 g.chr1:55608723C>A c.2509G>T c.(2509-2511)Gaa>Taa p.E837* LUSC 1 55620440 55620440 + Silent SNP T T A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 g.chr1:55620440T>A c.1458A>T c.(1456-1458)tcA>tcT p.S486S OV 1 55544264 55544264 + Missense_Mutation SNP A A G TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 g.chr1:55544264A>G c.7261T>C c.(7261-7263)Tac>Cac p.Y2421H OV 1 55591073 55591073 + Missense_Mutation SNP A A T TCGA-13-1501-01A-01W-0545-08 TCGA-13-1501-10A-01W-0546-08 g.chr1:55591073A>T c.3880T>A c.(3880-3882)Tcc>Acc p.S1294T OV 1 55600023 55600023 + Missense_Mutation SNP G G C TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 g.chr1:55600023G>C c.3265C>G c.(3265-3267)Ctc>Gtc p.L1089V OV 1 55603309 55603309 + Missense_Mutation SNP T T C TCGA-24-1422-01A-01W-0545-08 TCGA-24-1422-10A-01W-0545-08 g.chr1:55603309T>C c.3080A>G c.(3079-3081)gAa>gGa p.E1027G OV 1 55612632 55612632 + Silent SNP A A C TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 g.chr1:55612632A>C c.2220T>G c.(2218-2220)acT>acG p.T740T OV 1 55624694 55624694 + Missense_Mutation SNP G G C TCGA-24-1419-01A-01W-0545-08 TCGA-24-1419-10A-01W-0545-08 g.chr1:55624694G>C c.1084C>G c.(1084-1086)Cct>Gct p.P362A PAAD 1 55562215 55562215 + Missense_Mutation SNP T T G TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 g.chr1:55562215T>G c.6017A>C c.(6016-6018)tAt>tCt p.Y2006S PAAD 1 55563334 55563334 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:55563334G>A c.5652C>T c.(5650-5652)caC>caT p.H1884H PAAD 1 55569592 55569592 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:55569592G>T c.4982C>A c.(4981-4983)tCt>tAt p.S1661Y PAAD 1 55589226 55589226 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:55589226C>T c.4170G>A c.(4168-4170)gcG>gcA p.A1390A PAAD 1 55620367 55620367 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:55620367G>T c.1531C>A c.(1531-1533)Cat>Aat p.H511N PRAD 1 55537593 55537593 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:55537593G>A c.7694C>T c.(7693-7695)aCg>aTg p.T2565M PRAD 1 55538531 55538532 + Frame_Shift_Del DEL AC AC - TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 g.chr1:55538531_55538532delAC c.7529_7530delGT c.(7528-7530)tgtfs p.C2510fs PRAD 1 55562659 55562659 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:55562659C>T c.5902G>A c.(5902-5904)Gca>Aca p.A1968T PRAD 1 55569614 55569614 + Missense_Mutation SNP T T G TCGA-KK-A7AW-01A-11D-A32B-08 TCGA-KK-A7AW-11A-11D-A329-08 g.chr1:55569614T>G c.4960A>C c.(4960-4962)Att>Ctt p.I1654L PRAD 1 55572934 55572934 + Missense_Mutation SNP A A C TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 g.chr1:55572934A>C c.4740T>G c.(4738-4740)tgT>tgG p.C1580W PRAD 1 55604636 55604636 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:55604636C>T c.2798G>A c.(2797-2799)cGc>cAc p.R933H READ 1 55586426 55586426 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:55586426G>A c.4351C>T c.(4351-4353)Cgc>Tgc p.R1451C READ 1 55591073 55591073 + Missense_Mutation SNP A A G TCGA-AG-3731-01A-11D-1733-10 TCGA-AG-3731-11A-01D-1733-10 g.chr1:55591073A>G c.3880T>C c.(3880-3882)Tcc>Ccc p.S1294P READ 1 55612632 55612632 + Silent SNP A A G TCGA-EI-6510-01A-11D-1733-10 TCGA-EI-6510-10A-01D-1733-10 g.chr1:55612632A>G c.2220T>C c.(2218-2220)acT>acC p.T740T READ 1 55612633 55612633 + Missense_Mutation SNP G G A TCGA-AH-6643-01A-11D-1826-10 TCGA-AH-6643-11A-01D-1826-10 g.chr1:55612633G>A c.2219C>T c.(2218-2220)aCt>aTt p.T740I READ 1 55613373 55613373 + Silent SNP A A G TCGA-CL-5917-01A-11D-1657-10 TCGA-CL-5917-10A-01D-1657-10 g.chr1:55613373A>G c.2067T>C c.(2065-2067)ccT>ccC p.P689P READ 1 55623038 55623038 + Silent SNP G G A TCGA-AG-3731-01A-11D-1733-10 TCGA-AG-3731-11A-01D-1733-10 g.chr1:55623038G>A c.1233C>T c.(1231-1233)acC>acT p.T411T READ 1 55643711 55643711 + Missense_Mutation SNP C C A TCGA-DY-A0XA-01A-11D-A152-10 TCGA-DY-A0XA-10A-01D-A152-10 g.chr1:55643711C>A c.419G>T c.(418-420)tGg>tTg p.W140L SARC 1 55534764 55534764 + Missense_Mutation SNP A A G TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 g.chr1:55534764A>G c.7817T>C c.(7816-7818)aTg>aCg p.M2606T SARC 1 55537558 55537559 + Frame_Shift_Ins INS - - T TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 g.chr1:55537558_55537559insT c.7728_7729insA c.(7726-7731)aaagagfs p.E2577fs SARC 1 55567345 55567345 + Missense_Mutation SNP G G A TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 g.chr1:55567345G>A c.5057C>T c.(5056-5058)tCa>tTa p.S1686L SKCM 1 55545290 55545290 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 g.chr1:55545290G>A c.7121C>T c.(7120-7122)cCc>cTc p.P2374L SKCM 1 55545306 55545306 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr1:55545306G>A c.7105C>T c.(7105-7107)Ccc>Tcc p.P2369S SKCM 1 55547002 55547002 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr1:55547002C>T c.7071G>A c.(7069-7071)agG>agA p.R2357R SKCM 1 55547003 55547003 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr1:55547003C>T c.7070G>A c.(7069-7071)aGg>aAg p.R2357K SKCM 1 55548966 55548966 + Silent SNP C C T TCGA-EE-A2A5-06A-11D-A197-08 TCGA-EE-A2A5-10A-01D-A199-08 g.chr1:55548966C>T c.6954G>A c.(6952-6954)ggG>ggA p.G2318G SKCM 1 55559734 55559734 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr1:55559734G>A c.6230C>T c.(6229-6231)tCa>tTa p.S2077L SKCM 1 55563389 55563389 + Splice_Site SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr1:55563389C>T c.5597G>A c.(5596-5598)aGa>aAa p.R1866K SKCM 1 55569674 55569674 + Nonsense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:55569674G>A c.4900C>T c.(4900-4902)Cga>Tga p.R1634* SKCM 1 55569675 55569675 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:55569675G>A c.4899C>T c.(4897-4899)agC>agT p.S1633S SKCM 1 55572982 55572982 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:55572982G>A c.4692C>T c.(4690-4692)atC>atT p.I1564I SKCM 1 55586392 55586392 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 g.chr1:55586392C>T c.4385G>A c.(4384-4386)aGt>aAt p.S1462N SKCM 1 55591072 55591072 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 g.chr1:55591072G>A c.3881C>T c.(3880-3882)tCc>tTc p.S1294F SKCM 1 55598327 55598327 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr1:55598327G>A c.3428C>T c.(3427-3429)tCc>tTc p.S1143F SKCM 1 55599781 55599781 + Nonsense_Mutation SNP G G A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 g.chr1:55599781G>A c.3343C>T c.(3343-3345)Cag>Tag p.Q1115*

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 1 55590200 55590200 single base substitution T A synonymous_variant P1194P 3582A>T ALL-US 1 55590200 55590200 single base substitution T A synonymous_variant P1354P 4062A>T BLCA-US 1 55549036 55549036 single base substitution T G downstream_gene_variant BLCA-US 1 55549036 55549036 single base substitution T G missense_variant Q2135P 6404A>C BLCA-US 1 55549036 55549036 single base substitution T G missense_variant Q2295P 6884A>C BLCA-US 1 55549036 55549036 single base substitution T G splice_region_variant BLCA-US 1 55562240 55562240 single base substitution C A missense_variant D1838Y 5512G>T BLCA-US 1 55562240 55562240 single base substitution C A missense_variant D1998Y 5992G>T BLCA-US 1 55562240 55562240 single base substitution C A upstream_gene_variant BLCA-US 1 55566515 55566515 single base substitution C T stop_gained W1596* 4788G>A BLCA-US 1 55566515 55566515 single base substitution C T stop_gained W1756* 5268G>A BLCA-US 1 55595217 55595217 single base substitution C T missense_variant D1030N 3088G>A BLCA-US 1 55595217 55595217 single base substitution C T missense_variant D1190N 3568G>A BLCA-US 1 55638085 55638085 single base substitution G C missense_variant P111A 331C>G BLCA-US 1 55638085 55638085 single base substitution G C missense_variant P223A 667C>G BRCA-EU 1 55530531 55530531 single base substitution G A downstream_gene_variant BRCA-EU 1 55530875 55530875 single base substitution T A downstream_gene_variant BRCA-EU 1 55531485 55531485 single base substitution C G downstream_gene_variant BRCA-EU 1 55532403 55532403 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 55532403 55532403 single base substitution G A downstream_gene_variant BRCA-EU 1 55532522 55532522 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 55532522 55532522 single base substitution C T downstream_gene_variant BRCA-EU 1 55532926 55532926 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 55532926 55532926 single base substitution G A downstream_gene_variant BRCA-EU 1 55537903 55537903 single base substitution C A intron_variant BRCA-EU 1 55539634 55539634 single base substitution C T intron_variant BRCA-EU 1 55539634 55539634 single base substitution C T upstream_gene_variant BRCA-EU 1 55540369 55540369 single base substitution A G intron_variant BRCA-EU 1 55540369 55540369 single base substitution A G upstream_gene_variant BRCA-EU 1 55540746 55540746 single base substitution C T intron_variant BRCA-EU 1 55540746 55540746 single base substitution C T upstream_gene_variant BRCA-EU 1 55541588 55541588 single base substitution G C intron_variant BRCA-EU 1 55541588 55541588 single base substitution G C upstream_gene_variant BRCA-EU 1 55546544 55546544 single base substitution C T downstream_gene_variant BRCA-EU 1 55546544 55546544 single base substitution C T intron_variant BRCA-EU 1 55546757 55546757 insertion of <=200bp - A downstream_gene_variant BRCA-EU 1 55546757 55546757 insertion of <=200bp - A intron_variant BRCA-EU 1 55546959 55546959 single base substitution T C downstream_gene_variant BRCA-EU 1 55546959 55546959 single base substitution T C intron_variant BRCA-EU 1 55547722 55547722 single base substitution G A downstream_gene_variant BRCA-EU 1 55547722 55547722 single base substitution G A intron_variant BRCA-EU 1 55550106 55550110 deletion of <=200bp ATTTT - intron_variant BRCA-EU 1 55551487 55551487 single base substitution G C intron_variant BRCA-EU 1 55552916 55552916 single base substitution G A intron_variant BRCA-EU 1 55552916 55552916 single base substitution G A upstream_gene_variant BRCA-EU 1 55554829 55554829 single base substitution G A downstream_gene_variant BRCA-EU 1 55554829 55554829 single base substitution G A intron_variant BRCA-EU 1 55554829 55554829 single base substitution G A upstream_gene_variant BRCA-EU 1 55555418 55555418 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 55555418 55555418 deletion of <=200bp A - splice_region_variant BRCA-EU 1 55555418 55555418 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 55555453 55555453 deletion of <=200bp G - downstream_gene_variant BRCA-EU 1 55555453 55555453 deletion of <=200bp G - intron_variant BRCA-EU 1 55555453 55555453 deletion of <=200bp G - upstream_gene_variant BRCA-EU 1 55558726 55558726 single base substitution C G downstream_gene_variant BRCA-EU 1 55558726 55558726 single base substitution C G intron_variant BRCA-EU 1 55561604 55561604 single base substitution C T intron_variant BRCA-EU 1 55561604 55561604 single base substitution C T upstream_gene_variant BRCA-EU 1 55562796 55562796 single base substitution C T missense_variant R1762H 5285G>A BRCA-EU 1 55562796 55562796 single base substitution C T missense_variant R1922H 5765G>A BRCA-EU 1 55562796 55562796 single base substitution C T upstream_gene_variant BRCA-EU 1 55564036 55564036 single base substitution G C intron_variant BRCA-EU 1 55564036 55564036 single base substitution G C upstream_gene_variant BRCA-EU 1 55564095 55564096 deletion of <=200bp AA - intron_variant BRCA-EU 1 55564095 55564096 deletion of <=200bp AA - upstream_gene_variant BRCA-EU 1 55564248 55564248 single base substitution T A intron_variant BRCA-EU 1 55564248 55564248 single base substitution T A upstream_gene_variant BRCA-EU 1 55564332 55564332 single base substitution C T intron_variant BRCA-EU 1 55564332 55564332 single base substitution C T upstream_gene_variant BRCA-EU 1 55565231 55565231 deletion of <=200bp A - intron_variant BRCA-EU 1 55565231 55565231 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 55565978 55565978 single base substitution T A intron_variant BRCA-EU 1 55565978 55565978 single base substitution T A upstream_gene_variant BRCA-EU 1 55566505 55566505 single base substitution G A splice_region_variant BRCA-EU 1 55567424 55567424 single base substitution C T intron_variant BRCA-EU 1 55568276 55568276 single base substitution C G intron_variant BRCA-EU 1 55568332 55568332 single base substitution G A intron_variant BRCA-EU 1 55569635 55569635 single base substitution T A missense_variant S1487C 4459A>T BRCA-EU 1 55569635 55569635 single base substitution T A missense_variant S1647C 4939A>T BRCA-EU 1 55569844 55569844 single base substitution G C intron_variant BRCA-EU 1 55570161 55570161 single base substitution T C intron_variant BRCA-EU 1 55572939 55572939 single base substitution G C missense_variant L1419V 4255C>G BRCA-EU 1 55572939 55572939 single base substitution G C missense_variant L1579V 4735C>G BRCA-EU 1 55575074 55575074 single base substitution C G intron_variant BRCA-EU 1 55576364 55576364 single base substitution A C intron_variant BRCA-EU 1 55576806 55576806 deletion of <=200bp T - intron_variant BRCA-EU 1 55578300 55578300 single base substitution C T intron_variant BRCA-EU 1 55578389 55578389 single base substitution G A intron_variant BRCA-EU 1 55579698 55579698 single base substitution G C intron_variant BRCA-EU 1 55581067 55581067 single base substitution G A intron_variant BRCA-EU 1 55581368 55581368 single base substitution C G intron_variant BRCA-EU 1 55582981 55582981 single base substitution A T intron_variant BRCA-EU 1 55585629 55585629 single base substitution C G intron_variant BRCA-EU 1 55587706 55587706 single base substitution G C intron_variant BRCA-EU 1 55587974 55587974 single base substitution G A intron_variant BRCA-EU 1 55588630 55588630 single base substitution C T intron_variant BRCA-EU 1 55590127 55590127 single base substitution C G intron_variant BRCA-EU 1 55592746 55592746 deletion of <=200bp C - intron_variant BRCA-EU 1 55595158 55595191 deletion of <=200bp GCCAGCTTTGAGGAAGTTTTCACAGAAGGATTTG - frameshift_variant AKSFCENFLKAG1038 BRCA-EU 1 55595158 55595191 deletion of <=200bp GCCAGCTTTGAGGAAGTTTTCACAGAAGGATTTG - frameshift_variant AKSFCENFLKAG1198 BRCA-EU 1 55599459 55599459 single base substitution G A intron_variant BRCA-EU 1 55600832 55600832 single base substitution A T intron_variant BRCA-EU 1 55600878 55600878 single base substitution G C intron_variant BRCA-EU 1 55602142 55602142 single base substitution C A intron_variant BRCA-EU 1 55603799 55603799 single base substitution C G intron_variant BRCA-EU 1 55604925 55604925 single base substitution C T intron_variant BRCA-EU 1 55605509 55605509 single base substitution C G intron_variant BRCA-EU 1 55607061 55607061 single base substitution G T intron_variant BRCA-EU 1 55607221 55607221 deletion of <=200bp A - intron_variant BRCA-EU 1 55610499 55610499 single base substitution C T intron_variant BRCA-EU 1 55610754 55610754 single base substitution G A intron_variant BRCA-EU 1 55611380 55611380 single base substitution C T intron_variant BRCA-EU 1 55611648 55611648 single base substitution A G intron_variant BRCA-EU 1 55611862 55611862 single base substitution T C intron_variant BRCA-EU 1 55612791 55612791 single base substitution A G intron_variant BRCA-EU 1 55613249 55613249 single base substitution C G intron_variant BRCA-EU 1 55614637 55614637 single base substitution A C intron_variant BRCA-EU 1 55614794 55614794 single base substitution G C intron_variant BRCA-EU 1 55616049 55616049 single base substitution G C intron_variant BRCA-EU 1 55618869 55618869 single base substitution C T intron_variant BRCA-EU 1 55619667 55619667 single base substitution G T intron_variant BRCA-EU 1 55621820 55621820 single base substitution G A intron_variant BRCA-EU 1 55622167 55622167 deletion of <=200bp A - intron_variant BRCA-EU 1 55623380 55623380 single base substitution G A intron_variant BRCA-EU 1 55623564 55623564 single base substitution A G intron_variant BRCA-EU 1 55624559 55624559 single base substitution G T missense_variant L295I 883C>A BRCA-EU 1 55624559 55624559 single base substitution G T missense_variant L407I 1219C>A BRCA-EU 1 55626460 55626460 single base substitution T G intron_variant BRCA-EU 1 55626813 55626813 single base substitution G A intron_variant BRCA-EU 1 55627104 55627104 deletion of <=200bp A - intron_variant BRCA-EU 1 55627795 55627795 single base substitution A G intron_variant BRCA-EU 1 55628077 55628077 single base substitution A G intron_variant BRCA-EU 1 55628164 55628164 single base substitution C G intron_variant BRCA-EU 1 55628234 55628234 single base substitution T A intron_variant BRCA-EU 1 55628709 55628709 single base substitution G T intron_variant BRCA-EU 1 55629048 55629048 single base substitution T C intron_variant BRCA-EU 1 55629076 55629076 single base substitution A G intron_variant BRCA-EU 1 55630085 55630085 deletion of <=200bp T - intron_variant BRCA-EU 1 55630515 55630515 single base substitution T G intron_variant BRCA-EU 1 55631156 55631156 deletion of <=200bp A - intron_variant BRCA-EU 1 55632130 55632130 deletion of <=200bp T - intron_variant BRCA-EU 1 55632146 55632146 single base substitution C G intron_variant BRCA-EU 1 55632281 55632281 single base substitution G C splice_region_variant BRCA-EU 1 55632426 55632426 single base substitution G C intron_variant BRCA-EU 1 55632613 55632616 deletion of <=200bp ATTA - intron_variant BRCA-EU 1 55632616 55632616 single base substitution A T intron_variant BRCA-EU 1 55633757 55633757 single base substitution G A intron_variant BRCA-EU 1 55633776 55633776 deletion of <=200bp G - intron_variant BRCA-EU 1 55633932 55633932 single base substitution C T intron_variant BRCA-EU 1 55636866 55636866 single base substitution C G intron_variant BRCA-EU 1 55636917 55636917 single base substitution C G intron_variant BRCA-EU 1 55637329 55637329 single base substitution T A missense_variant Y130F 389A>T BRCA-EU 1 55637329 55637329 single base substitution T A missense_variant Y242F 725A>T BRCA-EU 1 55637598 55637598 single base substitution G A intron_variant BRCA-EU 1 55639196 55639196 single base substitution G A intron_variant BRCA-EU 1 55639401 55639401 single base substitution C G intron_variant BRCA-EU 1 55640678 55640678 single base substitution C A intron_variant BRCA-EU 1 55641331 55641331 single base substitution G A intron_variant BRCA-EU 1 55642169 55642169 single base substitution C A intron_variant BRCA-EU 1 55643339 55643339 insertion of <=200bp - A intron_variant BRCA-EU 1 55644015 55644015 single base substitution G A intron_variant BRCA-EU 1 55644124 55644124 single base substitution G A intron_variant BRCA-EU 1 55644214 55644214 single base substitution C A intron_variant BRCA-EU 1 55644342 55644342 single base substitution C T intron_variant BRCA-EU 1 55645774 55645774 single base substitution C T intron_variant BRCA-EU 1 55646985 55646985 single base substitution A G intron_variant BRCA-EU 1 55648385 55648385 single base substitution A C intron_variant BRCA-EU 1 55649672 55649672 deletion of <=200bp A - intron_variant BRCA-EU 1 55650227 55650227 single base substitution A C intron_variant BRCA-EU 1 55651889 55651889 single base substitution T G intron_variant BRCA-EU 1 55651890 55651890 insertion of <=200bp - A intron_variant BRCA-EU 1 55654751 55654751 single base substitution C A intron_variant BRCA-EU 1 55655042 55655042 deletion of <=200bp T - intron_variant BRCA-EU 1 55655056 55655056 single base substitution A G intron_variant BRCA-EU 1 55657445 55657445 single base substitution G A intron_variant BRCA-EU 1 55657504 55657504 single base substitution G A intron_variant BRCA-EU 1 55657918 55657918 single base substitution T C intron_variant BRCA-EU 1 55658166 55658166 single base substitution C G intron_variant BRCA-EU 1 55659377 55659384 deletion of <=200bp ATGTCAGG - intron_variant BRCA-EU 1 55659458 55659458 single base substitution T C intron_variant BRCA-EU 1 55660482 55660482 single base substitution C T intron_variant BRCA-EU 1 55661787 55661787 single base substitution G A intron_variant BRCA-EU 1 55662084 55662084 single base substitution G A intron_variant BRCA-EU 1 55662279 55662279 single base substitution T G intron_variant BRCA-EU 1 55662822 55662822 single base substitution G A intron_variant BRCA-EU 1 55664053 55664053 single base substitution G T intron_variant BRCA-EU 1 55664733 55664733 single base substitution C T intron_variant BRCA-EU 1 55666336 55666336 single base substitution G A intron_variant BRCA-EU 1 55667346 55667346 single base substitution G C intron_variant BRCA-EU 1 55667647 55667647 single base substitution C A intron_variant BRCA-EU 1 55669784 55669784 single base substitution T C intron_variant BRCA-EU 1 55674171 55674171 single base substitution G A intron_variant BRCA-EU 1 55674634 55674634 single base substitution A C intron_variant BRCA-EU 1 55674784 55674784 deletion of <=200bp A - intron_variant BRCA-EU 1 55675794 55675794 single base substitution G C intron_variant BRCA-EU 1 55676505 55676505 single base substitution C T intron_variant BRCA-EU 1 55678149 55678149 single base substitution G A intron_variant BRCA-EU 1 55679441 55679441 single base substitution C A intron_variant BRCA-EU 1 55679564 55679564 single base substitution C T intron_variant BRCA-EU 1 55679846 55679846 single base substitution C G intron_variant BRCA-EU 1 55680019 55680019 single base substitution G A intron_variant BRCA-EU 1 55680166 55680166 single base substitution G A intron_variant BRCA-EU 1 55681198 55681198 single base substitution T A upstream_gene_variant BRCA-EU 1 55681314 55681420 deletion of <=200bp AGCGCCGCGCAGCTCGCAGCGCTGAACGTCGCGGAAATCCCTTGGCCGGCCGAGCCTCCGCAGCCGCGACCCGGCTTCTCTCCGTCCGAGTCCCCCGAGCCTCTCCG - upstream_gene_variant BRCA-EU 1 55682113 55682113 single base substitution C G upstream_gene_variant BRCA-EU 1 55683029 55683029 single base substitution G C upstream_gene_variant BRCA-EU 1 55683214 55683214 single base substitution C G upstream_gene_variant BRCA-EU 1 55684274 55684274 single base substitution T C upstream_gene_variant BRCA-EU 1 55685614 55685614 single base substitution C G upstream_gene_variant BRCA-FR 1 55530419 55530419 single base substitution C G downstream_gene_variant BRCA-FR 1 55532403 55532403 single base substitution G A 3_prime_UTR_variant BRCA-FR 1 55532403 55532403 single base substitution G A downstream_gene_variant BRCA-FR 1 55547888 55547888 single base substitution C G downstream_gene_variant BRCA-FR 1 55547888 55547888 single base substitution C G intron_variant BRCA-FR 1 55552916 55552916 single base substitution G A intron_variant BRCA-FR 1 55552916 55552916 single base substitution G A upstream_gene_variant BRCA-FR 1 55565534 55565534 single base substitution C T synonymous_variant K1600K 4800G>A BRCA-FR 1 55565534 55565534 single base substitution C T synonymous_variant K1760K 5280G>A BRCA-FR 1 55565534 55565534 single base substitution C T upstream_gene_variant BRCA-FR 1 55567424 55567424 single base substitution C T intron_variant BRCA-FR 1 55590127 55590127 single base substitution C G intron_variant BRCA-FR 1 55611386 55611386 single base substitution C G intron_variant BRCA-FR 1 55618869 55618869 single base substitution C T intron_variant BRCA-FR 1 55620668 55620668 single base substitution T G intron_variant BRCA-FR 1 55632146 55632146 single base substitution C G intron_variant BRCA-FR 1 55632281 55632281 single base substitution G C splice_region_variant BRCA-FR 1 55639401 55639401 single base substitution C G intron_variant BRCA-FR 1 55644124 55644124 single base substitution G A intron_variant BRCA-FR 1 55655404 55655404 single base substitution G C intron_variant BRCA-FR 1 55658166 55658166 single base substitution C G intron_variant BRCA-FR 1 55660482 55660482 single base substitution C T intron_variant BRCA-FR 1 55685310 55685310 single base substitution G A upstream_gene_variant BRCA-UK 1 55555294 55555297 deletion of <=200bp ACTT - downstream_gene_variant BRCA-UK 1 55555294 55555297 deletion of <=200bp ACTT - splice_region_variant BRCA-UK 1 55555294 55555297 deletion of <=200bp ACTT - upstream_gene_variant BRCA-UK 1 55569325 55569325 single base substitution G T intron_variant BRCA-UK 1 55579110 55579110 single base substitution G C intron_variant BRCA-UK 1 55581593 55581593 single base substitution G C intron_variant BRCA-UK 1 55585712 55585712 single base substitution G C intron_variant BRCA-UK 1 55603246 55603246 single base substitution G C stop_gained S1048* 3143C>G BRCA-UK 1 55603246 55603246 single base substitution G C stop_gained S888* 2663C>G BRCA-UK 1 55614174 55614174 single base substitution G A missense_variant R484C 1450C>T BRCA-UK 1 55614174 55614174 single base substitution G A missense_variant R644C 1930C>T BRCA-UK 1 55627795 55627795 single base substitution A G intron_variant BRCA-UK 1 55662279 55662279 single base substitution T G intron_variant BRCA-US 1 55537548 55537548 single base substitution C T exon_variant BRCA-US 1 55537548 55537548 single base substitution C T missense_variant G2420E 7259G>A BRCA-US 1 55537548 55537548 single base substitution C T missense_variant G2580E 7739G>A BRCA-US 1 55546997 55546997 single base substitution A T downstream_gene_variant BRCA-US 1 55546997 55546997 single base substitution A T missense_variant V2199D 6596T>A BRCA-US 1 55546997 55546997 single base substitution A T missense_variant V2359D 7076T>A BRCA-US 1 55566622 55566622 single base substitution C T missense_variant D1561N 4681G>A BRCA-US 1 55566622 55566622 single base substitution C T missense_variant D1721N 5161G>A BRCA-US 1 55589148 55589148 single base substitution C T synonymous_variant T1256T 3768G>A BRCA-US 1 55589148 55589148 single base substitution C T synonymous_variant T1416T 4248G>A BRCA-US 1 55589159 55589159 single base substitution G A missense_variant L1253F 3757C>T BRCA-US 1 55589159 55589159 single base substitution G A missense_variant L1413F 4237C>T BRCA-US 1 55589232 55589232 single base substitution C T synonymous_variant L1228L 3684G>A BRCA-US 1 55589232 55589232 single base substitution C T synonymous_variant L1388L 4164G>A BRCA-US 1 55591335 55591335 single base substitution C A splice_donor_variant BRCA-US 1 55619828 55619828 single base substitution C T synonymous_variant R448R 1344G>A BRCA-US 1 55619828 55619828 single base substitution C T synonymous_variant R592R 1776G>A BRCA-US 1 55637338 55637338 single base substitution T C missense_variant D127G 380A>G BRCA-US 1 55637338 55637338 single base substitution T C missense_variant D239G 716A>G BTCA-JP 1 55538678 55538678 single base substitution C A intron_variant BTCA-JP 1 55538678 55538678 single base substitution C A upstream_gene_variant BTCA-JP 1 55564294 55564294 single base substitution T C intron_variant BTCA-JP 1 55564294 55564294 single base substitution T C upstream_gene_variant BTCA-JP 1 55565561 55565561 single base substitution A G intron_variant BTCA-JP 1 55565561 55565561 single base substitution A G upstream_gene_variant BTCA-JP 1 55567416 55567416 single base substitution G A intron_variant BTCA-JP 1 55603255 55603255 single base substitution G C missense_variant A1045G 3134C>G BTCA-JP 1 55603255 55603255 single base substitution G C missense_variant A885G 2654C>G BTCA-JP 1 55604309 55604309 single base substitution T C missense_variant E807G 2420A>G BTCA-JP 1 55604309 55604309 single base substitution T C missense_variant E967G 2900A>G BTCA-JP 1 55607407 55607407 deletion of <=200bp A - splice_region_variant BTCA-JP 1 55608536 55608536 single base substitution T A intron_variant BTCA-JP 1 55608609 55608609 single base substitution C T intron_variant BTCA-JP 1 55612650 55612650 single base substitution G T synonymous_variant I574I 1722C>A BTCA-JP 1 55612650 55612650 single base substitution G T synonymous_variant I734I 2202C>A BTCA-JP 1 55637404 55637404 single base substitution T C intron_variant CESC-US 1 55538465 55538465 single base substitution C G exon_variant CESC-US 1 55538465 55538465 single base substitution C G missense_variant Q2372H 7116G>C CESC-US 1 55538465 55538465 single base substitution C G missense_variant Q2532H 7596G>C CESC-US 1 55539505 55539505 single base substitution G A exon_variant CESC-US 1 55539505 55539505 single base substitution G A stop_gained Q2348* 7042C>T CESC-US 1 55539505 55539505 single base substitution G A stop_gained Q2508* 7522C>T CESC-US 1 55539505 55539505 single base substitution G A upstream_gene_variant CESC-US 1 55569602 55569602 single base substitution C A stop_gained E1498* 4492G>T CESC-US 1 55569602 55569602 single base substitution C A stop_gained E1658* 4972G>T CESC-US 1 55586325 55586325 single base substitution G A synonymous_variant L1324L 3972C>T CESC-US 1 55586325 55586325 single base substitution G A synonymous_variant L1484L 4452C>T CESC-US 1 55624561 55624561 single base substitution G T missense_variant S294Y 881C>A CESC-US 1 55624561 55624561 single base substitution G T missense_variant S406Y 1217C>A CESC-US 1 55624600 55624600 single base substitution C T missense_variant R281H 842G>A CESC-US 1 55624600 55624600 single base substitution C T missense_variant R393H 1178G>A CESC-US 1 55680734 55680734 single base substitution G C stop_gained S10* 29C>G CESC-US 1 55680734 55680734 single base substitution G C stop_gained S18* 53C>G CLLE-ES 1 55557599 55557599 single base substitution T C downstream_gene_variant CLLE-ES 1 55557599 55557599 single base substitution T C intron_variant CLLE-ES 1 55559341 55559344 deletion of <=200bp TTTA - exon_variant CLLE-ES 1 55559341 55559344 deletion of <=200bp TTTA - intron_variant CLLE-ES 1 55572220 55572220 single base substitution C T intron_variant CLLE-ES 1 55583578 55583578 single base substitution T A intron_variant CLLE-ES 1 55588956 55588956 single base substitution A T intron_variant CLLE-ES 1 55608540 55608540 single base substitution A G intron_variant CLLE-ES 1 55618672 55618672 single base substitution C A intron_variant CLLE-ES 1 55619672 55619672 single base substitution G C intron_variant CLLE-ES 1 55663692 55663692 single base substitution T C intron_variant CLLE-ES 1 55677326 55677326 single base substitution G T intron_variant COAD-US 1 55557715 55557715 single base substitution G A downstream_gene_variant COAD-US 1 55557715 55557715 single base substitution G A missense_variant R2019W 6055C>T COAD-US 1 55557715 55557715 single base substitution G A missense_variant R2179W 6535C>T COAD-US 1 55562227 55562227 single base substitution T C missense_variant E1842G 5525A>G COAD-US 1 55562227 55562227 single base substitution T C missense_variant E2002G 6005A>G COAD-US 1 55562227 55562227 single base substitution T C upstream_gene_variant COAD-US 1 55564161 55564161 single base substitution T C missense_variant D1654G 4961A>G COAD-US 1 55564161 55564161 single base substitution T C missense_variant D1814G 5441A>G COAD-US 1 55564161 55564161 single base substitution T C upstream_gene_variant COAD-US 1 55566586 55566586 deletion of <=200bp A - frameshift_variant Y1573 COAD-US 1 55566586 55566586 deletion of <=200bp A - frameshift_variant Y1733 COAD-US 1 55586426 55586426 single base substitution G A missense_variant R1291C 3871C>T COAD-US 1 55586426 55586426 single base substitution G A missense_variant R1451C 4351C>T COAD-US 1 55590240 55590240 single base substitution G A missense_variant A1181V 3542C>T COAD-US 1 55590240 55590240 single base substitution G A missense_variant A1341V 4022C>T COAD-US 1 55591191 55591191 single base substitution C T synonymous_variant T1094T 3282G>A COAD-US 1 55591191 55591191 single base substitution C T synonymous_variant T1254T 3762G>A COAD-US 1 55600045 55600045 single base substitution G A synonymous_variant N1081N 3243C>T COAD-US 1 55600045 55600045 single base substitution G A synonymous_variant N921N 2763C>T COAD-US 1 55603290 55603290 single base substitution C T synonymous_variant K1033K 3099G>A COAD-US 1 55603290 55603290 single base substitution C T synonymous_variant K873K 2619G>A COAD-US 1 55603344 55603344 single base substitution A G synonymous_variant D1015D 3045T>C COAD-US 1 55603344 55603344 single base substitution A G synonymous_variant D855D 2565T>C COAD-US 1 55603547 55603547 single base substitution G A missense_variant R827W 2479C>T COAD-US 1 55603547 55603547 single base substitution G A missense_variant R987W 2959C>T COAD-US 1 55620045 55620045 single base substitution T A intron_variant COAD-US 1 55620045 55620045 single base substitution T A missense_variant K550M 1649A>T COCA-CN 1 55527249 55527249 single base substitution C T downstream_gene_variant COCA-CN 1 55529183 55529183 single base substitution G A downstream_gene_variant COCA-CN 1 55562219 55562219 single base substitution C T missense_variant E1845K 5533G>A COCA-CN 1 55562219 55562219 single base substitution C T missense_variant E2005K 6013G>A COCA-CN 1 55562219 55562219 single base substitution C T upstream_gene_variant COCA-CN 1 55562626 55562626 single base substitution G A stop_gained R1819* 5455C>T COCA-CN 1 55562626 55562626 single base substitution G A stop_gained R1979* 5935C>T COCA-CN 1 55562626 55562626 single base substitution G A upstream_gene_variant COCA-CN 1 55564274 55564274 single base substitution A C intron_variant COCA-CN 1 55564274 55564274 single base substitution A C upstream_gene_variant COCA-CN 1 55586465 55586465 single base substitution G T intron_variant COCA-CN 1 55591066 55591066 single base substitution C T missense_variant R1136Q 3407G>A COCA-CN 1 55591066 55591066 single base substitution C T missense_variant R1296Q 3887G>A COCA-CN 1 55604604 55604604 single base substitution G A intron_variant COCA-CN 1 55609915 55609915 single base substitution C T intron_variant COCA-CN 1 55611704 55611704 single base substitution G T missense_variant L617I 1849C>A COCA-CN 1 55611704 55611704 single base substitution G T missense_variant L777I 2329C>A COCA-CN 1 55612743 55612743 single base substitution G T intron_variant COCA-CN 1 55619797 55619797 single base substitution T C missense_variant K459E 1375A>G COCA-CN 1 55619797 55619797 single base substitution T C missense_variant K603E 1807A>G COCA-CN 1 55624677 55624677 single base substitution G A synonymous_variant A255A 765C>T COCA-CN 1 55624677 55624677 single base substitution G A synonymous_variant A367A 1101C>T COCA-CN 1 55627803 55627803 single base substitution A C intron_variant COCA-CN 1 55638166 55638166 single base substitution A G missense_variant W196R 586T>C COCA-CN 1 55638166 55638166 single base substitution A G missense_variant W84R 250T>C EOPC-DE 1 55532782 55532782 single base substitution C T 3_prime_UTR_variant EOPC-DE 1 55532782 55532782 single base substitution C T downstream_gene_variant EOPC-DE 1 55538342 55538342 single base substitution T C intron_variant EOPC-DE 1 55577940 55577940 single base substitution A G intron_variant EOPC-DE 1 55582738 55582738 single base substitution G A intron_variant EOPC-DE 1 55632515 55632515 single base substitution T C intron_variant EOPC-DE 1 55680757 55680757 single base substitution G A synonymous_variant T10T 30C>T EOPC-DE 1 55680757 55680757 single base substitution G A synonymous_variant T2T 6C>T ESAD-UK 1 55527399 55527399 single base substitution C T downstream_gene_variant ESAD-UK 1 55528427 55528427 single base substitution C A downstream_gene_variant ESAD-UK 1 55530059 55530059 single base substitution C T downstream_gene_variant ESAD-UK 1 55530886 55530886 single base substitution A T downstream_gene_variant ESAD-UK 1 55531381 55531381 single base substitution C T downstream_gene_variant ESAD-UK 1 55531401 55531401 single base substitution G C downstream_gene_variant ESAD-UK 1 55533731 55533731 single base substitution A C 3_prime_UTR_variant ESAD-UK 1 55533731 55533731 single base substitution A C downstream_gene_variant ESAD-UK 1 55538276 55538276 single base substitution A C intron_variant ESAD-UK 1 55539241 55539241 single base substitution C T intron_variant ESAD-UK 1 55539241 55539241 single base substitution C T upstream_gene_variant ESAD-UK 1 55543280 55543293 deletion of <=200bp TGTTTTCCAGAAGA - downstream_gene_variant ESAD-UK 1 55543280 55543293 deletion of <=200bp TGTTTTCCAGAAGA - intron_variant ESAD-UK 1 55543280 55543293 deletion of <=200bp TGTTTTCCAGAAGA - upstream_gene_variant ESAD-UK 1 55543543 55543543 single base substitution G A downstream_gene_variant ESAD-UK 1 55543543 55543543 single base substitution G A intron_variant ESAD-UK 1 55543543 55543543 single base substitution G A upstream_gene_variant ESAD-UK 1 55544763 55544763 single base substitution C T downstream_gene_variant ESAD-UK 1 55544763 55544763 single base substitution C T intron_variant ESAD-UK 1 55544763 55544763 single base substitution C T upstream_gene_variant ESAD-UK 1 55546757 55546757 deletion of <=200bp A - downstream_gene_variant ESAD-UK 1 55546757 55546757 deletion of <=200bp A - intron_variant ESAD-UK 1 55546861 55546861 single base substitution C T downstream_gene_variant ESAD-UK 1 55546861 55546861 single base substitution C T intron_variant ESAD-UK 1 55546918 55546918 single base substitution C T downstream_gene_variant ESAD-UK 1 55546918 55546918 single base substitution C T intron_variant ESAD-UK 1 55549186 55549186 single base substitution A T downstream_gene_variant ESAD-UK 1 55549186 55549186 single base substitution A T intron_variant ESAD-UK 1 55552812 55552812 single base substitution A T intron_variant ESAD-UK 1 55552812 55552812 single base substitution A T upstream_gene_variant ESAD-UK 1 55552864 55552864 insertion of <=200bp - A intron_variant ESAD-UK 1 55552864 55552864 insertion of <=200bp - A upstream_gene_variant ESAD-UK 1 55553614 55553622 deletion of <=200bp AAAATAAGC - intron_variant ESAD-UK 1 55553614 55553622 deletion of <=200bp AAAATAAGC - upstream_gene_variant ESAD-UK 1 55553625 55553632 deletion of <=200bp GGCAGGTT - intron_variant ESAD-UK 1 55553625 55553632 deletion of <=200bp GGCAGGTT - upstream_gene_variant ESAD-UK 1 55554114 55554114 single base substitution G T intron_variant ESAD-UK 1 55554114 55554114 single base substitution G T upstream_gene_variant ESAD-UK 1 55554737 55554737 single base substitution G A downstream_gene_variant ESAD-UK 1 55554737 55554737 single base substitution G A intron_variant ESAD-UK 1 55554737 55554737 single base substitution G A upstream_gene_variant ESAD-UK 1 55556084 55556084 single base substitution C T downstream_gene_variant ESAD-UK 1 55556084 55556084 single base substitution C T intron_variant ESAD-UK 1 55556084 55556084 single base substitution C T upstream_gene_variant ESAD-UK 1 55558099 55558099 single base substitution G C downstream_gene_variant ESAD-UK 1 55558099 55558099 single base substitution G C intron_variant ESAD-UK 1 55561681 55561681 single base substitution T G intron_variant ESAD-UK 1 55561681 55561681 single base substitution T G upstream_gene_variant ESAD-UK 1 55563786 55563786 single base substitution A C intron_variant ESAD-UK 1 55563786 55563786 single base substitution A C upstream_gene_variant ESAD-UK 1 55564619 55564619 insertion of <=200bp - A intron_variant ESAD-UK 1 55564619 55564619 insertion of <=200bp - A upstream_gene_variant ESAD-UK 1 55571943 55571943 single base substitution T C splice_region_variant ESAD-UK 1 55577038 55577038 single base substitution C T intron_variant ESAD-UK 1 55578806 55578806 single base substitution G A intron_variant ESAD-UK 1 55580805 55580805 deletion of <=200bp A - intron_variant ESAD-UK 1 55582114 55582114 single base substitution A T intron_variant ESAD-UK 1 55585687 55585687 single base substitution G A intron_variant ESAD-UK 1 55585982 55585982 single base substitution C T intron_variant ESAD-UK 1 55586374 55586374 single base substitution G A missense_variant A1308V 3923C>T ESAD-UK 1 55586374 55586374 single base substitution G A missense_variant A1468V 4403C>T ESAD-UK 1 55586431 55586431 single base substitution T G splice_acceptor_variant ESAD-UK 1 55589072 55589072 single base substitution T G intron_variant ESAD-UK 1 55589527 55589527 single base substitution C A intron_variant ESAD-UK 1 55596332 55596332 single base substitution T A intron_variant ESAD-UK 1 55596478 55596478 single base substitution G T intron_variant ESAD-UK 1 55601448 55601448 deletion of <=200bp A - intron_variant ESAD-UK 1 55601715 55601716 deletion of <=200bp GA - intron_variant ESAD-UK 1 55602237 55602237 single base substitution G A intron_variant ESAD-UK 1 55605562 55605562 single base substitution A T intron_variant ESAD-UK 1 55605675 55605675 insertion of <=200bp - C intron_variant ESAD-UK 1 55606060 55606060 single base substitution A G intron_variant ESAD-UK 1 55607036 55607036 single base substitution T C intron_variant ESAD-UK 1 55610639 55610639 single base substitution T A intron_variant ESAD-UK 1 55610761 55610761 single base substitution C T intron_variant ESAD-UK 1 55614798 55614798 single base substitution T C intron_variant ESAD-UK 1 55618056 55618056 single base substitution G C intron_variant ESAD-UK 1 55618620 55618620 single base substitution G A intron_variant ESAD-UK 1 55622385 55622385 insertion of <=200bp - T intron_variant ESAD-UK 1 55623050 55623050 single base substitution A C splice_region_variant ESAD-UK 1 55624728 55624728 insertion of <=200bp - A intron_variant ESAD-UK 1 55627710 55627710 single base substitution A G intron_variant ESAD-UK 1 55630397 55630397 single base substitution G A intron_variant ESAD-UK 1 55631190 55631190 single base substitution T C intron_variant ESAD-UK 1 55631469 55631469 single base substitution C T intron_variant ESAD-UK 1 55631654 55631654 insertion of <=200bp - T intron_variant ESAD-UK 1 55635653 55635653 single base substitution A T intron_variant ESAD-UK 1 55636840 55636840 single base substitution A G intron_variant ESAD-UK 1 55646926 55646926 insertion of <=200bp - C intron_variant ESAD-UK 1 55651138 55651138 single base substitution A T intron_variant ESAD-UK 1 55651814 55651814 single base substitution C T intron_variant ESAD-UK 1 55653152 55653152 single base substitution G T intron_variant ESAD-UK 1 55656951 55656951 single base substitution C A intron_variant ESAD-UK 1 55661042 55661042 single base substitution T G intron_variant ESAD-UK 1 55661976 55661976 single base substitution G C intron_variant ESAD-UK 1 55662230 55662230 single base substitution A G intron_variant ESAD-UK 1 55664932 55664932 single base substitution A C intron_variant ESAD-UK 1 55667435 55667435 single base substitution A G intron_variant ESAD-UK 1 55669387 55669387 single base substitution C A intron_variant ESAD-UK 1 55677234 55677234 single base substitution T C intron_variant ESAD-UK 1 55678974 55678974 single base substitution T C intron_variant ESAD-UK 1 55679423 55679423 single base substitution C T intron_variant ESAD-UK 1 55680059 55680059 single base substitution C G intron_variant ESAD-UK 1 55681999 55681999 single base substitution C T upstream_gene_variant ESCA-CN 1 55551560 55551560 single base substitution T A intron_variant ESCA-CN 1 55608428 55608428 single base substitution T A missense_variant Y714F 2141A>T ESCA-CN 1 55608428 55608428 single base substitution T A missense_variant Y874F 2621A>T ESCA-CN 1 55613448 55613448 single base substitution C G missense_variant K504N 1512G>C ESCA-CN 1 55613448 55613448 single base substitution C G missense_variant K664N 1992G>C KIRC-US 1 55527082 55527082 single base substitution C T downstream_gene_variant KIRC-US 1 55529175 55529175 single base substitution G A downstream_gene_variant KIRC-US 1 55547097 55547097 single base substitution T C downstream_gene_variant KIRC-US 1 55547097 55547097 single base substitution T C missense_variant I2166V 6496A>G KIRC-US 1 55547097 55547097 single base substitution T C missense_variant I2326V 6976A>G KIRC-US 1 55547097 55547097 single base substitution T C splice_region_variant KIRC-US 1 55549489 55549489 single base substitution T G downstream_gene_variant KIRC-US 1 55549489 55549489 single base substitution T G exon_variant KIRC-US 1 55549489 55549489 single base substitution T G missense_variant N2120H 6358A>C KIRC-US 1 55549489 55549489 single base substitution T G missense_variant N2280H 6838A>C KIRC-US 1 55619805 55619805 single base substitution T G missense_variant E456A 1367A>C KIRC-US 1 55619805 55619805 single base substitution T G missense_variant E600A 1799A>C KIRC-US 1 55638068 55638068 single base substitution G A synonymous_variant L116L 348C>T KIRC-US 1 55638068 55638068 single base substitution G A synonymous_variant L228L 684C>T KIRC-US 1 55642115 55642115 single base substitution A T splice_region_variant KIRC-US 1 55642117 55642117 single base substitution C A splice_acceptor_variant KIRP-US 1 55529096 55529096 deletion of <=200bp G - downstream_gene_variant KIRP-US 1 55569689 55569689 single base substitution T C missense_variant S1469G 4405A>G KIRP-US 1 55569689 55569689 single base substitution T C missense_variant S1629G 4885A>G KIRP-US 1 55612677 55612677 single base substitution A G synonymous_variant Y565Y 1695T>C KIRP-US 1 55612677 55612677 single base substitution A G synonymous_variant Y725Y 2175T>C LAML-KR 1 55538552 55538552 single base substitution T G exon_variant LAML-KR 1 55538552 55538552 single base substitution T G intron_variant LAML-KR 1 55558657 55558657 single base substitution A C downstream_gene_variant LAML-KR 1 55558657 55558657 single base substitution A C intron_variant LAML-KR 1 55582378 55582378 single base substitution G A intron_variant LGG-US 1 55590210 55590210 single base substitution C A missense_variant S1191I 3572G>T LGG-US 1 55590210 55590210 single base substitution C A missense_variant S1351I 4052G>T LGG-US 1 55638164 55638164 single base substitution C T stop_gained W196* 588G>A LGG-US 1 55638164 55638164 single base substitution C T stop_gained W84* 252G>A LICA-CN 1 55591406 55591406 single base substitution C T missense_variant D1061N 3181G>A LICA-CN 1 55591406 55591406 single base substitution C T missense_variant D1221N 3661G>A LICA-CN 1 55598335 55598335 single base substitution T C synonymous_variant K1140K 3420A>G LICA-CN 1 55598335 55598335 single base substitution T C synonymous_variant K980K 2940A>G LICA-CN 1 55599827 55599827 single base substitution T C synonymous_variant L1099L 3297A>G LICA-CN 1 55599827 55599827 single base substitution T C synonymous_variant L939L 2817A>G LICA-CN 1 55612709 55612709 single base substitution G A synonymous_variant L555L 1663C>T LICA-CN 1 55612709 55612709 single base substitution G A synonymous_variant L715L 2143C>T LICA-CN 1 55638195 55638195 single base substitution T A splice_acceptor_variant LICA-FR 1 55527095 55527095 single base substitution C T downstream_gene_variant LICA-FR 1 55532672 55532672 single base substitution G C 3_prime_UTR_variant LICA-FR 1 55532672 55532672 single base substitution G C downstream_gene_variant LICA-FR 1 55539781 55539782 deletion of <=200bp AA - intron_variant LICA-FR 1 55539781 55539782 deletion of <=200bp AA - upstream_gene_variant LICA-FR 1 55549888 55549888 single base substitution T C intron_variant LICA-FR 1 55559704 55559704 single base substitution G A exon_variant LICA-FR 1 55559704 55559704 single base substitution G A missense_variant P1927L 5780C>T LICA-FR 1 55559704 55559704 single base substitution G A missense_variant P2087L 6260C>T LICA-FR 1 55578062 55578062 single base substitution C T intron_variant LICA-FR 1 55578063 55578063 single base substitution T C intron_variant LICA-FR 1 55598440 55598440 single base substitution A C intron_variant LICA-FR 1 55599162 55599162 single base substitution A G intron_variant LICA-FR 1 55601492 55601492 single base substitution G A intron_variant LICA-FR 1 55616845 55616845 single base substitution T A intron_variant LICA-FR 1 55625285 55625285 single base substitution T G missense_variant K244T 731A>C LICA-FR 1 55625285 55625285 single base substitution T G missense_variant K356T 1067A>C LICA-FR 1 55638667 55638667 single base substitution T C intron_variant LICA-FR 1 55641825 55641825 single base substitution T C intron_variant LICA-FR 1 55644856 55644856 single base substitution T A intron_variant LICA-FR 1 55664019 55664019 single base substitution T A intron_variant LICA-FR 1 55674721 55674721 single base substitution A G intron_variant LICA-FR 1 55684512 55684512 deletion of <=200bp T - upstream_gene_variant LIHC-US 1 55527146 55527146 single base substitution G A downstream_gene_variant LIHC-US 1 55537593 55537593 single base substitution G T exon_variant LIHC-US 1 55537593 55537593 single base substitution G T missense_variant T2405K 7214C>A LIHC-US 1 55537593 55537593 single base substitution G T missense_variant T2565K 7694C>A LIHC-US 1 55549487 55549487 insertion of <=200bp - A downstream_gene_variant LIHC-US 1 55549487 55549487 insertion of <=200bp - A exon_variant LIHC-US 1 55549487 55549487 insertion of <=200bp - A frameshift_variant N2120N? LIHC-US 1 55549487 55549487 insertion of <=200bp - A frameshift_variant N2280N? LIHC-US 1 55573092 55573092 single base substitution C T missense_variant E1368K 4102G>A LIHC-US 1 55573092 55573092 single base substitution C T missense_variant E1528K 4582G>A LIHC-US 1 55624627 55624627 single base substitution T C missense_variant D272G 815A>G LIHC-US 1 55624627 55624627 single base substitution T C missense_variant D384G 1151A>G LINC-JP 1 55531794 55531794 single base substitution A G downstream_gene_variant LINC-JP 1 55533140 55533140 single base substitution G A 3_prime_UTR_variant LINC-JP 1 55533140 55533140 single base substitution G A downstream_gene_variant LINC-JP 1 55538097 55538097 single base substitution T G intron_variant LINC-JP 1 55539416 55539416 single base substitution A C intron_variant LINC-JP 1 55539416 55539416 single base substitution A C upstream_gene_variant LINC-JP 1 55539808 55539808 single base substitution C A intron_variant LINC-JP 1 55539808 55539808 single base substitution C A upstream_gene_variant LINC-JP 1 55541341 55541348 deletion of <=200bp CCACCACC - intron_variant LINC-JP 1 55541341 55541348 deletion of <=200bp CCACCACC - upstream_gene_variant LINC-JP 1 55545068 55545068 single base substitution T C downstream_gene_variant LINC-JP 1 55545068 55545068 single base substitution T C intron_variant LINC-JP 1 55545068 55545068 single base substitution T C upstream_gene_variant LINC-JP 1 55551665 55551665 single base substitution C A exon_variant LINC-JP 1 55551665 55551665 single base substitution C A missense_variant A2079S 6235G>T LINC-JP 1 55551665 55551665 single base substitution C A missense_variant A2239S 6715G>T LINC-JP 1 55551666 55551666 single base substitution C T exon_variant LINC-JP 1 55551666 55551666 single base substitution C T synonymous_variant V2078V 6234G>A LINC-JP 1 55551666 55551666 single base substitution C T synonymous_variant V2238V 6714G>A LINC-JP 1 55552404 55552404 single base substitution T C intron_variant LINC-JP 1 55552404 55552404 single base substitution T C upstream_gene_variant LINC-JP 1 55555843 55555843 single base substitution T C downstream_gene_variant LINC-JP 1 55555843 55555843 single base substitution T C intron_variant LINC-JP 1 55555843 55555843 single base substitution T C upstream_gene_variant LINC-JP 1 55560892 55560892 single base substitution A G intron_variant LINC-JP 1 55563775 55563775 single base substitution G A intron_variant LINC-JP 1 55563775 55563775 single base substitution G A upstream_gene_variant LINC-JP 1 55563809 55563809 single base substitution T G intron_variant LINC-JP 1 55563809 55563809 single base substitution T G upstream_gene_variant LINC-JP 1 55565275 55565275 single base substitution G A intron_variant LINC-JP 1 55565275 55565275 single base substitution G A upstream_gene_variant LINC-JP 1 55571239 55571239 single base substitution A G intron_variant LINC-JP 1 55571956 55571956 single base substitution T C intron_variant LINC-JP 1 55573542 55573542 single base substitution C A intron_variant LINC-JP 1 55586366 55586366 single base substitution C T missense_variant D1311N 3931G>A LINC-JP 1 55586366 55586366 single base substitution C T missense_variant D1471N 4411G>A LINC-JP 1 55593932 55593932 single base substitution C A intron_variant LINC-JP 1 55597353 55597353 single base substitution T C intron_variant LINC-JP 1 55600298 55600298 single base substitution T C intron_variant LINC-JP 1 55603417 55603417 single base substitution A T intron_variant LINC-JP 1 55608666 55608666 single base substitution G T missense_variant P696T 2086C>A LINC-JP 1 55608666 55608666 single base substitution G T missense_variant P856T 2566C>A LINC-JP 1 55609835 55609835 single base substitution A C missense_variant C642G 1924T>G LINC-JP 1 55609835 55609835 single base substitution A C missense_variant C802G 2404T>G LINC-JP 1 55611848 55611848 single base substitution T G intron_variant LINC-JP 1 55619999 55619999 single base substitution T A intron_variant LINC-JP 1 55621831 55621831 single base substitution G C intron_variant LINC-JP 1 55631250 55631250 single base substitution T A intron_variant LINC-JP 1 55638197 55638197 single base substitution T C splice_region_variant LINC-JP 1 55643622 55643622 single base substitution T C intron_variant LINC-JP 1 55644760 55644760 single base substitution C T intron_variant LINC-JP 1 55663837 55663837 single base substitution T A intron_variant LINC-JP 1 55667303 55667303 deletion of <=200bp G - intron_variant LINC-JP 1 55668293 55668293 single base substitution G T intron_variant LINC-JP 1 55682251 55682251 single base substitution A G upstream_gene_variant LIRI-JP 1 55527367 55527367 single base substitution C T downstream_gene_variant LIRI-JP 1 55529652 55529652 single base substitution C A downstream_gene_variant LIRI-JP 1 55532692 55532692 single base substitution A C 3_prime_UTR_variant LIRI-JP 1 55532692 55532692 single base substitution A C downstream_gene_variant LIRI-JP 1 55533403 55533403 single base substitution A G 3_prime_UTR_variant LIRI-JP 1 55533403 55533403 single base substitution A G downstream_gene_variant LIRI-JP 1 55534162 55534162 single base substitution A G 3_prime_UTR_variant LIRI-JP 1 55534162 55534162 single base substitution A G downstream_gene_variant LIRI-JP 1 55534175 55534175 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 55534175 55534175 single base substitution T C downstream_gene_variant LIRI-JP 1 55534208 55534208 single base substitution A C 3_prime_UTR_variant LIRI-JP 1 55534208 55534208 single base substitution A C downstream_gene_variant LIRI-JP 1 55535725 55535725 single base substitution G T downstream_gene_variant LIRI-JP 1 55535725 55535725 single base substitution G T intron_variant LIRI-JP 1 55538542 55538542 deletion of <=200bp C - exon_variant LIRI-JP 1 55538542 55538542 deletion of <=200bp C - splice_region_variant LIRI-JP 1 55540438 55540438 single base substitution G C intron_variant LIRI-JP 1 55540438 55540438 single base substitution G C upstream_gene_variant LIRI-JP 1 55541835 55541835 single base substitution T C intron_variant LIRI-JP 1 55541835 55541835 single base substitution T C upstream_gene_variant LIRI-JP 1 55541936 55541936 insertion of <=200bp - A intron_variant LIRI-JP 1 55541936 55541936 insertion of <=200bp - A upstream_gene_variant LIRI-JP 1 55543769 55543769 single base substitution T C downstream_gene_variant LIRI-JP 1 55543769 55543769 single base substitution T C intron_variant LIRI-JP 1 55543769 55543769 single base substitution T C upstream_gene_variant LIRI-JP 1 55544017 55544017 single base substitution A C downstream_gene_variant LIRI-JP 1 55544017 55544017 single base substitution A C intron_variant LIRI-JP 1 55544017 55544017 single base substitution A C upstream_gene_variant LIRI-JP 1 55546062 55546062 single base substitution T C downstream_gene_variant LIRI-JP 1 55546062 55546062 single base substitution T C intron_variant LIRI-JP 1 55546062 55546062 single base substitution T C upstream_gene_variant LIRI-JP 1 55546124 55546124 single base substitution A G downstream_gene_variant LIRI-JP 1 55546124 55546124 single base substitution A G intron_variant LIRI-JP 1 55546124 55546124 single base substitution A G upstream_gene_variant LIRI-JP 1 55546934 55546934 single base substitution T C downstream_gene_variant LIRI-JP 1 55546934 55546934 single base substitution T C intron_variant LIRI-JP 1 55547838 55547838 single base substitution A C downstream_gene_variant LIRI-JP 1 55547838 55547838 single base substitution A C intron_variant LIRI-JP 1 55550840 55550840 single base substitution C T intron_variant LIRI-JP 1 55552899 55552899 single base substitution T C intron_variant LIRI-JP 1 55552899 55552899 single base substitution T C upstream_gene_variant LIRI-JP 1 55553296 55553296 single base substitution T A intron_variant LIRI-JP 1 55553296 55553296 single base substitution T A upstream_gene_variant LIRI-JP 1 55553700 55553700 single base substitution G C intron_variant LIRI-JP 1 55553700 55553700 single base substitution G C upstream_gene_variant LIRI-JP 1 55555268 55555268 single base substitution A G downstream_gene_variant LIRI-JP 1 55555268 55555268 single base substitution A G intron_variant LIRI-JP 1 55555268 55555268 single base substitution A G upstream_gene_variant LIRI-JP 1 55557210 55557210 single base substitution T C downstream_gene_variant LIRI-JP 1 55557210 55557210 single base substitution T C intron_variant LIRI-JP 1 55560577 55560577 single base substitution G C intron_variant LIRI-JP 1 55564537 55564537 single base substitution T C intron_variant LIRI-JP 1 55564537 55564537 single base substitution T C upstream_gene_variant LIRI-JP 1 55564544 55564544 single base substitution T C intron_variant LIRI-JP 1 55564544 55564544 single base substitution T C upstream_gene_variant LIRI-JP 1 55564826 55564826 single base substitution A T intron_variant LIRI-JP 1 55564826 55564826 single base substitution A T upstream_gene_variant LIRI-JP 1 55567110 55567110 single base substitution T A intron_variant LIRI-JP 1 55569209 55569209 single base substitution T C intron_variant LIRI-JP 1 55569459 55569459 single base substitution T C intron_variant LIRI-JP 1 55571997 55571997 single base substitution T C intron_variant LIRI-JP 1 55575160 55575160 single base substitution A C intron_variant LIRI-JP 1 55577232 55577232 single base substitution T C intron_variant LIRI-JP 1 55578083 55578083 single base substitution T C intron_variant LIRI-JP 1 55579750 55579750 single base substitution G C intron_variant LIRI-JP 1 55582090 55582090 single base substitution C A intron_variant LIRI-JP 1 55583098 55583098 single base substitution A C intron_variant LIRI-JP 1 55585416 55585416 single base substitution T C intron_variant LIRI-JP 1 55589790 55589790 single base substitution G A intron_variant LIRI-JP 1 55590747 55590747 single base substitution G A intron_variant LIRI-JP 1 55591009 55591009 single base substitution G A missense_variant A1155V 3464C>T LIRI-JP 1 55591009 55591009 single base substitution G A missense_variant A1315V 3944C>T LIRI-JP 1 55592119 55592119 single base substitution C G intron_variant LIRI-JP 1 55595204 55595204 single base substitution G A missense_variant A1034V 3101C>T LIRI-JP 1 55595204 55595204 single base substitution G A missense_variant A1194V 3581C>T LIRI-JP 1 55595258 55595258 single base substitution G T intron_variant LIRI-JP 1 55596092 55596092 single base substitution G A intron_variant LIRI-JP 1 55596441 55596441 single base substitution C T intron_variant LIRI-JP 1 55597110 55597110 deletion of <=200bp A - intron_variant LIRI-JP 1 55598428 55598428 single base substitution G C intron_variant LIRI-JP 1 55598832 55598832 single base substitution C G intron_variant LIRI-JP 1 55603619 55603619 single base substitution T C intron_variant LIRI-JP 1 55604790 55604790 single base substitution T C intron_variant LIRI-JP 1 55605515 55605515 single base substitution T C intron_variant LIRI-JP 1 55607800 55607800 single base substitution T C intron_variant LIRI-JP 1 55613162 55613162 single base substitution T A intron_variant LIRI-JP 1 55614706 55614706 single base substitution G A intron_variant LIRI-JP 1 55614792 55614792 single base substitution C T intron_variant LIRI-JP 1 55615446 55615446 single base substitution C T intron_variant LIRI-JP 1 55616770 55616770 single base substitution T A intron_variant LIRI-JP 1 55617033 55617033 single base substitution T C intron_variant LIRI-JP 1 55617563 55617563 deletion of <=200bp G - intron_variant LIRI-JP 1 55620853 55620853 single base substitution T C intron_variant LIRI-JP 1 55623471 55623471 single base substitution C T intron_variant LIRI-JP 1 55624401 55624401 single base substitution T C intron_variant LIRI-JP 1 55625266 55625266 single base substitution G A intron_variant LIRI-JP 1 55626860 55626860 single base substitution C A intron_variant LIRI-JP 1 55628936 55628936 single base substitution A T intron_variant LIRI-JP 1 55629856 55629856 single base substitution T C intron_variant LIRI-JP 1 55630235 55630235 single base substitution G A intron_variant LIRI-JP 1 55630273 55630273 single base substitution T C intron_variant LIRI-JP 1 55634668 55634668 single base substitution A C intron_variant LIRI-JP 1 55636171 55636171 single base substitution T C intron_variant LIRI-JP 1 55636827 55636827 single base substitution C A intron_variant LIRI-JP 1 55637031 55637031 single base substitution T A intron_variant LIRI-JP 1 55637634 55637634 single base substitution A G intron_variant LIRI-JP 1 55637828 55637828 single base substitution T C intron_variant LIRI-JP 1 55640542 55640542 single base substitution G A intron_variant LIRI-JP 1 55643969 55643969 single base substitution T C intron_variant LIRI-JP 1 55645862 55645862 single base substitution T C intron_variant LIRI-JP 1 55647561 55647561 single base substitution A C intron_variant LIRI-JP 1 55647575 55647575 single base substitution A G intron_variant LIRI-JP 1 55649141 55649141 single base substitution T C intron_variant LIRI-JP 1 55649698 55649698 single base substitution T G intron_variant LIRI-JP 1 55652916 55652916 single base substitution T A intron_variant LIRI-JP 1 55653736 55653736 single base substitution T C intron_variant LIRI-JP 1 55653742 55653742 single base substitution T G intron_variant LIRI-JP 1 55654113 55654113 single base substitution A C intron_variant LIRI-JP 1 55659862 55659862 single base substitution T C intron_variant LIRI-JP 1 55660547 55660547 single base substitution T A intron_variant LIRI-JP 1 55660980 55660980 single base substitution T C intron_variant LIRI-JP 1 55662010 55662010 single base substitution T C intron_variant LIRI-JP 1 55663526 55663526 single base substitution T C intron_variant LIRI-JP 1 55665498 55665498 single base substitution T C intron_variant LIRI-JP 1 55665637 55665637 single base substitution G A intron_variant LIRI-JP 1 55665863 55665863 single base substitution T C intron_variant LIRI-JP 1 55666203 55666203 insertion of <=200bp - A intron_variant LIRI-JP 1 55668044 55668044 single base substitution T C intron_variant LIRI-JP 1 55669211 55669211 single base substitution T C intron_variant LIRI-JP 1 55670723 55670724 deletion of <=200bp TG - intron_variant LIRI-JP 1 55671644 55671644 single base substitution T C intron_variant LIRI-JP 1 55673749 55673749 single base substitution G A intron_variant LIRI-JP 1 55675367 55675367 single base substitution G A intron_variant LIRI-JP 1 55675584 55675584 single base substitution T A intron_variant LIRI-JP 1 55676220 55676220 single base substitution A C intron_variant LIRI-JP 1 55676538 55676538 single base substitution T C intron_variant LIRI-JP 1 55677387 55677387 single base substitution C G intron_variant LIRI-JP 1 55679370 55679370 single base substitution G C intron_variant LIRI-JP 1 55682613 55682613 single base substitution C A upstream_gene_variant LIRI-JP 1 55683511 55683511 single base substitution C A upstream_gene_variant LIRI-JP 1 55684100 55684100 single base substitution A T upstream_gene_variant LIRI-JP 1 55684213 55684213 single base substitution G A upstream_gene_variant LUSC-KR 1 55527088 55527088 single base substitution C G downstream_gene_variant LUSC-KR 1 55527594 55527594 single base substitution C T downstream_gene_variant LUSC-KR 1 55536517 55536517 single base substitution G T downstream_gene_variant LUSC-KR 1 55536517 55536517 single base substitution G T intron_variant LUSC-KR 1 55544335 55544335 single base substitution G C downstream_gene_variant LUSC-KR 1 55544335 55544335 single base substitution G C intron_variant LUSC-KR 1 55544335 55544335 single base substitution G C upstream_gene_variant LUSC-KR 1 55547069 55547069 single base substitution C T downstream_gene_variant LUSC-KR 1 55547069 55547069 single base substitution C T exon_variant LUSC-KR 1 55547069 55547069 single base substitution C T missense_variant R2175Q 6524G>A LUSC-KR 1 55547069 55547069 single base substitution C T missense_variant R2335Q 7004G>A LUSC-KR 1 55561645 55561645 single base substitution C A intron_variant LUSC-KR 1 55561645 55561645 single base substitution C A upstream_gene_variant LUSC-KR 1 55567880 55567880 single base substitution T A intron_variant LUSC-KR 1 55573772 55573772 single base substitution A C intron_variant LUSC-KR 1 55574156 55574156 single base substitution C G intron_variant LUSC-KR 1 55578660 55578660 single base substitution T C intron_variant LUSC-KR 1 55581168 55581168 single base substitution C A intron_variant LUSC-KR 1 55583639 55583639 single base substitution C A intron_variant LUSC-KR 1 55583997 55583997 single base substitution C A intron_variant LUSC-KR 1 55590090 55590090 single base substitution T A intron_variant LUSC-KR 1 55594691 55594691 single base substitution C T intron_variant LUSC-KR 1 55612577 55612577 single base substitution T C intron_variant LUSC-KR 1 55622073 55622073 single base substitution C T intron_variant LUSC-KR 1 55630712 55630712 single base substitution G C intron_variant LUSC-KR 1 55643752 55643752 single base substitution T C intron_variant LUSC-KR 1 55643752 55643752 single base substitution T C synonymous_variant T126T 378A>G LUSC-KR 1 55644733 55644733 single base substitution A G intron_variant LUSC-KR 1 55645359 55645359 single base substitution G A intron_variant LUSC-KR 1 55647792 55647792 single base substitution T A intron_variant LUSC-KR 1 55652864 55652864 single base substitution C A intron_variant LUSC-KR 1 55656046 55656046 single base substitution G A intron_variant LUSC-KR 1 55656318 55656318 single base substitution T A intron_variant LUSC-KR 1 55662975 55662975 single base substitution C T intron_variant LUSC-KR 1 55670722 55670722 single base substitution C A intron_variant LUSC-US 1 55529216 55529216 single base substitution C G downstream_gene_variant LUSC-US 1 55544314 55544314 single base substitution G C downstream_gene_variant LUSC-US 1 55544314 55544314 single base substitution G C missense_variant A2244G 6731C>G LUSC-US 1 55544314 55544314 single base substitution G C missense_variant A2404G 7211C>G LUSC-US 1 55544314 55544314 single base substitution G C upstream_gene_variant LUSC-US 1 55545265 55545265 single base substitution A G downstream_gene_variant LUSC-US 1 55545265 55545265 single base substitution A G synonymous_variant H2222H 6666T>C LUSC-US 1 55545265 55545265 single base substitution A G synonymous_variant H2382H 7146T>C LUSC-US 1 55545265 55545265 single base substitution A G upstream_gene_variant LUSC-US 1 55551676 55551676 single base substitution C T exon_variant LUSC-US 1 55551676 55551676 single base substitution C T missense_variant R2075Q 6224G>A LUSC-US 1 55551676 55551676 single base substitution C T missense_variant R2235Q 6704G>A LUSC-US 1 55563371 55563371 single base substitution G C missense_variant T1712S 5135C>G LUSC-US 1 55563371 55563371 single base substitution G C missense_variant T1872S 5615C>G LUSC-US 1 55563371 55563371 single base substitution G C upstream_gene_variant LUSC-US 1 55566598 55566598 single base substitution C T missense_variant D1569N 4705G>A LUSC-US 1 55566598 55566598 single base substitution C T missense_variant D1729N 5185G>A LUSC-US 1 55572963 55572963 single base substitution G A missense_variant R1411C 4231C>T LUSC-US 1 55572963 55572963 single base substitution G A missense_variant R1571C 4711C>T LUSC-US 1 55603512 55603512 single base substitution C A synonymous_variant V838V 2514G>T LUSC-US 1 55603512 55603512 single base substitution C A synonymous_variant V998V 2994G>T LUSC-US 1 55607343 55607343 insertion of <=200bp - T frameshift_variant M739I? LUSC-US 1 55607343 55607343 insertion of <=200bp - T frameshift_variant M899I? LUSC-US 1 55608723 55608723 single base substitution C A stop_gained E677* 2029G>T LUSC-US 1 55608723 55608723 single base substitution C A stop_gained E837* 2509G>T LUSC-US 1 55620440 55620440 single base substitution T A synonymous_variant S374S 1122A>T LUSC-US 1 55620440 55620440 single base substitution T A synonymous_variant S486S 1458A>T MALY-DE 1 55536184 55536184 single base substitution G C downstream_gene_variant MALY-DE 1 55536184 55536184 single base substitution G C intron_variant MALY-DE 1 55538682 55538682 single base substitution T A intron_variant MALY-DE 1 55538682 55538682 single base substitution T A upstream_gene_variant MALY-DE 1 55542402 55542402 single base substitution T C downstream_gene_variant MALY-DE 1 55542402 55542402 single base substitution T C intron_variant MALY-DE 1 55542402 55542402 single base substitution T C upstream_gene_variant MALY-DE 1 55553865 55553865 single base substitution A G intron_variant MALY-DE 1 55553865 55553865 single base substitution A G upstream_gene_variant MALY-DE 1 55557585 55557585 single base substitution T G downstream_gene_variant MALY-DE 1 55557585 55557585 single base substitution T G intron_variant MALY-DE 1 55589285 55589285 single base substitution G C intron_variant MALY-DE 1 55614447 55614447 single base substitution A C intron_variant MALY-DE 1 55617892 55617895 deletion of <=200bp AAAA - intron_variant MALY-DE 1 55634742 55634742 single base substitution T G intron_variant MALY-DE 1 55635647 55635647 single base substitution T A intron_variant MALY-DE 1 55641372 55641372 single base substitution G A intron_variant MALY-DE 1 55647175 55647175 single base substitution T A intron_variant MALY-DE 1 55647811 55647811 single base substitution G A intron_variant MALY-DE 1 55648050 55648050 single base substitution T G intron_variant MALY-DE 1 55666205 55666205 insertion of <=200bp - T intron_variant MALY-DE 1 55671279 55671279 single base substitution T A intron_variant MALY-DE 1 55672044 55672044 single base substitution A G intron_variant MALY-DE 1 55672052 55672052 single base substitution A T intron_variant MALY-DE 1 55672063 55672063 single base substitution A G intron_variant MALY-DE 1 55679501 55679501 single base substitution C A intron_variant MELA-AU 1 55527039 55527039 single base substitution C T downstream_gene_variant MELA-AU 1 55527111 55527111 single base substitution G A downstream_gene_variant MELA-AU 1 55527142 55527142 single base substitution G A downstream_gene_variant MELA-AU 1 55527174 55527174 single base substitution C T downstream_gene_variant MELA-AU 1 55527207 55527207 single base substitution G A downstream_gene_variant MELA-AU 1 55527420 55527420 single base substitution T G downstream_gene_variant MELA-AU 1 55527745 55527745 single base substitution C T downstream_gene_variant MELA-AU 1 55528280 55528280 single base substitution G A downstream_gene_variant MELA-AU 1 55528337 55528337 single base substitution G A downstream_gene_variant MELA-AU 1 55528356 55528356 single base substitution G A downstream_gene_variant MELA-AU 1 55528590 55528590 single base substitution G A downstream_gene_variant MELA-AU 1 55528678 55528678 single base substitution G A downstream_gene_variant MELA-AU 1 55528956 55528956 single base substitution G A downstream_gene_variant MELA-AU 1 55528971 55528971 single base substitution G A downstream_gene_variant MELA-AU 1 55529366 55529366 single base substitution A T downstream_gene_variant MELA-AU 1 55529940 55529940 single base substitution G A downstream_gene_variant MELA-AU 1 55530143 55530144 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU 1 55530288 55530288 single base substitution G A downstream_gene_variant MELA-AU 1 55531163 55531163 single base substitution C T downstream_gene_variant MELA-AU 1 55531348 55531348 single base substitution C T downstream_gene_variant MELA-AU 1 55531457 55531457 single base substitution A G downstream_gene_variant MELA-AU 1 55532807 55532807 single base substitution A T 3_prime_UTR_variant MELA-AU 1 55532807 55532807 single base substitution A T downstream_gene_variant MELA-AU 1 55533212 55533212 single base substitution G A 3_prime_UTR_variant MELA-AU 1 55533212 55533212 single base substitution G A downstream_gene_variant MELA-AU 1 55533998 55533999 multiple base substitution (>=2bp and <=200bp) AG GA 3_prime_UTR_variant MELA-AU 1 55533998 55533999 multiple base substitution (>=2bp and <=200bp) AG GA downstream_gene_variant MELA-AU 1 55534586 55534586 single base substitution G A 3_prime_UTR_variant MELA-AU 1 55534586 55534586 single base substitution G A downstream_gene_variant MELA-AU 1 55535146 55535146 single base substitution G A downstream_gene_variant MELA-AU 1 55535146 55535146 single base substitution G A intron_variant MELA-AU 1 55535282 55535282 single base substitution G T downstream_gene_variant MELA-AU 1 55535282 55535282 single base substitution G T intron_variant MELA-AU 1 55535332 55535332 single base substitution G A downstream_gene_variant MELA-AU 1 55535332 55535332 single base substitution G A intron_variant MELA-AU 1 55535358 55535358 single base substitution A G downstream_gene_variant MELA-AU 1 55535358 55535358 single base substitution A G intron_variant MELA-AU 1 55535765 55535765 single base substitution G A downstream_gene_variant MELA-AU 1 55535765 55535765 single base substitution G A intron_variant MELA-AU 1 55535889 55535889 single base substitution G A downstream_gene_variant MELA-AU 1 55535889 55535889 single base substitution G A intron_variant MELA-AU 1 55536031 55536031 single base substitution T C downstream_gene_variant MELA-AU 1 55536031 55536031 single base substitution T C intron_variant MELA-AU 1 55536119 55536120 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 55536119 55536120 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 55536318 55536318 single base substitution G A downstream_gene_variant MELA-AU 1 55536318 55536318 single base substitution G A intron_variant MELA-AU 1 55536523 55536523 single base substitution G A downstream_gene_variant MELA-AU 1 55536523 55536523 single base substitution G A intron_variant MELA-AU 1 55536664 55536664 single base substitution A G downstream_gene_variant MELA-AU 1 55536664 55536664 single base substitution A G intron_variant MELA-AU 1 55537198 55537198 single base substitution G A downstream_gene_variant MELA-AU 1 55537198 55537198 single base substitution G A intron_variant MELA-AU 1 55537202 55537202 single base substitution C A downstream_gene_variant MELA-AU 1 55537202 55537202 single base substitution C A intron_variant MELA-AU 1 55538725 55538725 single base substitution G A intron_variant MELA-AU 1 55538725 55538725 single base substitution G A upstream_gene_variant MELA-AU 1 55538741 55538741 single base substitution G A intron_variant MELA-AU 1 55538741 55538741 single base substitution G A upstream_gene_variant MELA-AU 1 55540309 55540312 deletion of <=200bp AAAT - intron_variant MELA-AU 1 55540309 55540312 deletion of <=200bp AAAT - upstream_gene_variant MELA-AU 1 55541206 55541206 single base substitution G A intron_variant MELA-AU 1 55541206 55541206 single base substitution G A upstream_gene_variant MELA-AU 1 55541236 55541236 single base substitution G A intron_variant MELA-AU 1 55541236 55541236 single base substitution G A upstream_gene_variant MELA-AU 1 55541569 55541569 single base substitution G A intron_variant MELA-AU 1 55541569 55541569 single base substitution G A upstream_gene_variant MELA-AU 1 55541962 55541963 multiple base substitution (>=2bp and <=200bp) AT GA intron_variant MELA-AU 1 55541962 55541963 multiple base substitution (>=2bp and <=200bp) AT GA upstream_gene_variant MELA-AU 1 55542392 55542392 single base substitution G A downstream_gene_variant MELA-AU 1 55542392 55542392 single base substitution G A intron_variant MELA-AU 1 55542392 55542392 single base substitution G A upstream_gene_variant MELA-AU 1 55542539 55542539 single base substitution G A downstream_gene_variant MELA-AU 1 55542539 55542539 single base substitution G A intron_variant MELA-AU 1 55542539 55542539 single base substitution G A upstream_gene_variant MELA-AU 1 55542571 55542571 single base substitution A G downstream_gene_variant MELA-AU 1 55542571 55542571 single base substitution A G intron_variant MELA-AU 1 55542571 55542571 single base substitution A G upstream_gene_variant MELA-AU 1 55543042 55543042 single base substitution G A downstream_gene_variant MELA-AU 1 55543042 55543042 single base substitution G A intron_variant MELA-AU 1 55543042 55543042 single base substitution G A upstream_gene_variant MELA-AU 1 55543432 55543432 single base substitution C T downstream_gene_variant MELA-AU 1 55543432 55543432 single base substitution C T intron_variant MELA-AU 1 55543432 55543432 single base substitution C T upstream_gene_variant MELA-AU 1 55543857 55543857 single base substitution G A downstream_gene_variant MELA-AU 1 55543857 55543857 single base substitution G A intron_variant MELA-AU 1 55543857 55543857 single base substitution G A upstream_gene_variant MELA-AU 1 55543992 55543992 single base substitution C T downstream_gene_variant MELA-AU 1 55543992 55543992 single base substitution C T intron_variant MELA-AU 1 55543992 55543992 single base substitution C T upstream_gene_variant MELA-AU 1 55544484 55544484 single base substitution G A downstream_gene_variant MELA-AU 1 55544484 55544484 single base substitution G A intron_variant MELA-AU 1 55544484 55544484 single base substitution G A upstream_gene_variant MELA-AU 1 55544726 55544726 single base substitution G A downstream_gene_variant MELA-AU 1 55544726 55544726 single base substitution G A intron_variant MELA-AU 1 55544726 55544726 single base substitution G A upstream_gene_variant MELA-AU 1 55544760 55544760 single base substitution G A downstream_gene_variant MELA-AU 1 55544760 55544760 single base substitution G A intron_variant MELA-AU 1 55544760 55544760 single base substitution G A upstream_gene_variant MELA-AU 1 55544941 55544941 single base substitution G A downstream_gene_variant MELA-AU 1 55544941 55544941 single base substitution G A intron_variant MELA-AU 1 55544941 55544941 single base substitution G A upstream_gene_variant MELA-AU 1 55545290 55545290 single base substitution G A downstream_gene_variant MELA-AU 1 55545290 55545290 single base substitution G A missense_variant P2214L 6641C>T MELA-AU 1 55545290 55545290 single base substitution G A missense_variant P2374L 7121C>T MELA-AU 1 55545290 55545290 single base substitution G A upstream_gene_variant MELA-AU 1 55546478 55546478 single base substitution G A downstream_gene_variant MELA-AU 1 55546478 55546478 single base substitution G A intron_variant MELA-AU 1 55546648 55546648 single base substitution G A downstream_gene_variant MELA-AU 1 55546648 55546648 single base substitution G A intron_variant MELA-AU 1 55546648 55546648 single base substitution G T downstream_gene_variant MELA-AU 1 55546648 55546648 single base substitution G T intron_variant MELA-AU 1 55546985 55546985 single base substitution T G downstream_gene_variant MELA-AU 1 55546985 55546985 single base substitution T G intron_variant MELA-AU 1 55547153 55547153 single base substitution G A downstream_gene_variant MELA-AU 1 55547153 55547153 single base substitution G A intron_variant MELA-AU 1 55547810 55547810 single base substitution G A downstream_gene_variant MELA-AU 1 55547810 55547810 single base substitution G A intron_variant MELA-AU 1 55547812 55547812 single base substitution A G downstream_gene_variant MELA-AU 1 55547812 55547812 single base substitution A G intron_variant MELA-AU 1 55548279 55548279 single base substitution G A downstream_gene_variant MELA-AU 1 55548279 55548279 single base substitution G A intron_variant MELA-AU 1 55548446 55548446 single base substitution C T downstream_gene_variant MELA-AU 1 55548446 55548446 single base substitution C T intron_variant MELA-AU 1 55548456 55548456 single base substitution G A downstream_gene_variant MELA-AU 1 55548456 55548456 single base substitution G A intron_variant MELA-AU 1 55548471 55548471 single base substitution T A downstream_gene_variant MELA-AU 1 55548471 55548471 single base substitution T A intron_variant MELA-AU 1 55548502 55548502 single base substitution A C downstream_gene_variant MELA-AU 1 55548502 55548502 single base substitution A C intron_variant MELA-AU 1 55548837 55548837 single base substitution T C downstream_gene_variant MELA-AU 1 55548837 55548837 single base substitution T C intron_variant MELA-AU 1 55549428 55549428 single base substitution G A downstream_gene_variant MELA-AU 1 55549428 55549428 single base substitution G A intron_variant MELA-AU 1 55549623 55549623 single base substitution G A intron_variant MELA-AU 1 55549979 55549979 single base substitution G A intron_variant MELA-AU 1 55550398 55550399 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 55550402 55550403 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 55550569 55550569 single base substitution G T intron_variant MELA-AU 1 55550902 55550902 single base substitution G A intron_variant MELA-AU 1 55551036 55551036 single base substitution G A intron_variant MELA-AU 1 55551181 55551181 single base substitution G A intron_variant MELA-AU 1 55552083 55552083 single base substitution G A exon_variant MELA-AU 1 55552083 55552083 single base substitution G A intron_variant MELA-AU 1 55552197 55552197 single base substitution G A intron_variant MELA-AU 1 55552197 55552197 single base substitution G A upstream_gene_variant MELA-AU 1 55552262 55552262 single base substitution G A intron_variant MELA-AU 1 55552262 55552262 single base substitution G A upstream_gene_variant MELA-AU 1 55554181 55554182 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 55554181 55554182 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 55554270 55554270 single base substitution G A downstream_gene_variant MELA-AU 1 55554270 55554270 single base substitution G A intron_variant MELA-AU 1 55554270 55554270 single base substitution G A upstream_gene_variant MELA-AU 1 55554497 55554499 multiple base substitution (>=2bp and <=200bp) GGA AAG downstream_gene_variant MELA-AU 1 55554497 55554499 multiple base substitution (>=2bp and <=200bp) GGA AAG intron_variant MELA-AU 1 55554497 55554499 multiple base substitution (>=2bp and <=200bp) GGA AAG upstream_gene_variant MELA-AU 1 55554519 55554519 single base substitution G A downstream_gene_variant MELA-AU 1 55554519 55554519 single base substitution G A intron_variant MELA-AU 1 55554519 55554519 single base substitution G A upstream_gene_variant MELA-AU 1 55554792 55554792 single base substitution G A downstream_gene_variant MELA-AU 1 55554792 55554792 single base substitution G A intron_variant MELA-AU 1 55554792 55554792 single base substitution G A upstream_gene_variant MELA-AU 1 55557734 55557734 single base substitution G A downstream_gene_variant MELA-AU 1 55557734 55557734 single base substitution G A synonymous_variant F2012F 6036C>T MELA-AU 1 55557734 55557734 single base substitution G A synonymous_variant F2172F 6516C>T MELA-AU 1 55557824 55557824 single base substitution G A downstream_gene_variant MELA-AU 1 55557824 55557824 single base substitution G A intron_variant MELA-AU 1 55558977 55558977 insertion of <=200bp - T downstream_gene_variant MELA-AU 1 55558977 55558977 insertion of <=200bp - T intron_variant MELA-AU 1 55560101 55560101 single base substitution C T intron_variant MELA-AU 1 55560282 55560282 single base substitution G A intron_variant MELA-AU 1 55560719 55560720 multiple base substitution (>=2bp and <=200bp) TA AC intron_variant MELA-AU 1 55562496 55562496 deletion of <=200bp A - intron_variant MELA-AU 1 55562496 55562496 deletion of <=200bp A - upstream_gene_variant MELA-AU 1 55562614 55562614 single base substitution G A intron_variant MELA-AU 1 55562614 55562614 single base substitution G A upstream_gene_variant MELA-AU 1 55563005 55563005 single base substitution G A intron_variant MELA-AU 1 55563005 55563005 single base substitution G A upstream_gene_variant MELA-AU 1 55563040 55563040 single base substitution G A intron_variant MELA-AU 1 55563040 55563040 single base substitution G A upstream_gene_variant MELA-AU 1 55563216 55563216 single base substitution G A intron_variant MELA-AU 1 55563216 55563216 single base substitution G A upstream_gene_variant MELA-AU 1 55563243 55563243 single base substitution G A intron_variant MELA-AU 1 55563243 55563243 single base substitution G A upstream_gene_variant MELA-AU 1 55563607 55563607 single base substitution A G intron_variant MELA-AU 1 55563607 55563607 single base substitution A G upstream_gene_variant MELA-AU 1 55564005 55564005 single base substitution G A intron_variant MELA-AU 1 55564005 55564005 single base substitution G A upstream_gene_variant MELA-AU 1 55564043 55564043 single base substitution G A intron_variant MELA-AU 1 55564043 55564043 single base substitution G A upstream_gene_variant MELA-AU 1 55564890 55564890 single base substitution G A intron_variant MELA-AU 1 55564890 55564890 single base substitution G A upstream_gene_variant MELA-AU 1 55565110 55565110 single base substitution G A intron_variant MELA-AU 1 55565110 55565110 single base substitution G A upstream_gene_variant MELA-AU 1 55565385 55565385 single base substitution T A intron_variant MELA-AU 1 55565385 55565385 single base substitution T A upstream_gene_variant MELA-AU 1 55565413 55565413 single base substitution G A intron_variant MELA-AU 1 55565413 55565413 single base substitution G A upstream_gene_variant MELA-AU 1 55565443 55565444 multiple base substitution (>=2bp and <=200bp) CC GT splice_donor_variant MELA-AU 1 55565443 55565444 multiple base substitution (>=2bp and <=200bp) CC GT upstream_gene_variant MELA-AU 1 55566645 55566645 single base substitution G A splice_region_variant MELA-AU 1 55567238 55567238 single base substitution G A intron_variant MELA-AU 1 55567409 55567409 single base substitution G A intron_variant MELA-AU 1 55567948 55567948 single base substitution G T intron_variant MELA-AU 1 55568458 55568458 single base substitution G A intron_variant MELA-AU 1 55568875 55568875 single base substitution G A intron_variant MELA-AU 1 55569633 55569633 single base substitution A T missense_variant S1487R 4461T>A MELA-AU 1 55569633 55569633 single base substitution A T missense_variant S1647R 4941T>A MELA-AU 1 55569919 55569919 single base substitution G A intron_variant MELA-AU 1 55570003 55570003 single base substitution G A intron_variant MELA-AU 1 55571604 55571604 single base substitution G A intron_variant MELA-AU 1 55571726 55571726 single base substitution G A intron_variant MELA-AU 1 55573222 55573222 single base substitution A G intron_variant MELA-AU 1 55574241 55574241 single base substitution G A intron_variant MELA-AU 1 55574307 55574307 single base substitution A C intron_variant MELA-AU 1 55574619 55574619 single base substitution C G intron_variant MELA-AU 1 55574711 55574711 single base substitution G A intron_variant MELA-AU 1 55574916 55574916 single base substitution C T intron_variant MELA-AU 1 55575592 55575592 single base substitution C G intron_variant MELA-AU 1 55576132 55576132 single base substitution G A intron_variant MELA-AU 1 55576276 55576276 single base substitution G A intron_variant MELA-AU 1 55576382 55576383 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 55577613 55577613 single base substitution C T intron_variant MELA-AU 1 55577781 55577781 single base substitution G A intron_variant MELA-AU 1 55577838 55577838 single base substitution G A intron_variant MELA-AU 1 55577960 55577960 single base substitution G A intron_variant MELA-AU 1 55578226 55578226 single base substitution G A intron_variant MELA-AU 1 55578418 55578418 single base substitution T C intron_variant MELA-AU 1 55578855 55578855 single base substitution A T intron_variant MELA-AU 1 55578945 55578945 single base substitution G A intron_variant MELA-AU 1 55579379 55579379 single base substitution G A intron_variant MELA-AU 1 55579843 55579843 single base substitution G A intron_variant MELA-AU 1 55580228 55580228 single base substitution G A intron_variant MELA-AU 1 55580423 55580423 single base substitution G A intron_variant MELA-AU 1 55581353 55581353 single base substitution G A intron_variant MELA-AU 1 55581389 55581389 single base substitution G A intron_variant MELA-AU 1 55581883 55581883 single base substitution G A intron_variant MELA-AU 1 55583112 55583112 single base substitution G A intron_variant MELA-AU 1 55583139 55583139 single base substitution C T intron_variant MELA-AU 1 55583403 55583403 single base substitution G A intron_variant MELA-AU 1 55583516 55583516 single base substitution T C intron_variant MELA-AU 1 55583528 55583528 single base substitution G A intron_variant MELA-AU 1 55584101 55584101 single base substitution A G intron_variant MELA-AU 1 55584121 55584121 single base substitution A G intron_variant MELA-AU 1 55584365 55584365 single base substitution G A intron_variant MELA-AU 1 55584564 55584564 single base substitution G A intron_variant MELA-AU 1 55584945 55584945 single base substitution G A intron_variant MELA-AU 1 55585127 55585127 single base substitution C T intron_variant MELA-AU 1 55586191 55586191 single base substitution G A intron_variant MELA-AU 1 55586342 55586342 single base substitution G A missense_variant L1319F 3955C>T MELA-AU 1 55586342 55586342 single base substitution G A missense_variant L1479F 4435C>T MELA-AU 1 55586608 55586608 single base substitution T A intron_variant MELA-AU 1 55587311 55587311 single base substitution T C intron_variant MELA-AU 1 55587524 55587524 single base substitution G A intron_variant MELA-AU 1 55587955 55587955 single base substitution G A intron_variant MELA-AU 1 55588306 55588306 single base substitution G A intron_variant MELA-AU 1 55588468 55588468 single base substitution G A intron_variant MELA-AU 1 55589028 55589028 single base substitution G A intron_variant MELA-AU 1 55589519 55589519 single base substitution G A intron_variant MELA-AU 1 55589531 55589531 single base substitution A G intron_variant MELA-AU 1 55589874 55589874 single base substitution T C intron_variant MELA-AU 1 55590050 55590050 single base substitution C T intron_variant MELA-AU 1 55590342 55590342 single base substitution G A intron_variant MELA-AU 1 55590376 55590376 single base substitution G A intron_variant MELA-AU 1 55590942 55590942 single base substitution G A intron_variant MELA-AU 1 55591401 55591401 single base substitution G A synonymous_variant S1062S 3186C>T MELA-AU 1 55591401 55591401 single base substitution G A synonymous_variant S1222S 3666C>T MELA-AU 1 55591878 55591878 single base substitution G A intron_variant MELA-AU 1 55591977 55591977 single base substitution G A intron_variant MELA-AU 1 55592492 55592492 single base substitution G A intron_variant MELA-AU 1 55592498 55592498 single base substitution C T intron_variant MELA-AU 1 55592733 55592733 single base substitution C T intron_variant MELA-AU 1 55593468 55593468 single base substitution G A intron_variant MELA-AU 1 55594036 55594036 insertion of <=200bp - T intron_variant MELA-AU 1 55594227 55594227 single base substitution G A intron_variant MELA-AU 1 55597807 55597807 single base substitution G A intron_variant MELA-AU 1 55598218 55598218 single base substitution T G missense_variant E1019D 3057A>C MELA-AU 1 55598218 55598218 single base substitution T G missense_variant E1179D 3537A>C MELA-AU 1 55599930 55599930 single base substitution G T intron_variant MELA-AU 1 55600485 55600485 single base substitution G A intron_variant MELA-AU 1 55600633 55600633 single base substitution G A intron_variant MELA-AU 1 55601051 55601051 single base substitution G A intron_variant MELA-AU 1 55601213 55601213 single base substitution G A intron_variant MELA-AU 1 55601446 55601446 single base substitution G A intron_variant MELA-AU 1 55601454 55601454 single base substitution A G intron_variant MELA-AU 1 55601655 55601655 single base substitution G A intron_variant MELA-AU 1 55602148 55602148 single base substitution G A intron_variant MELA-AU 1 55602535 55602535 single base substitution G A intron_variant MELA-AU 1 55602572 55602572 single base substitution G T intron_variant MELA-AU 1 55602648 55602648 single base substitution G A intron_variant MELA-AU 1 55602820 55602821 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 55603001 55603001 single base substitution G A intron_variant MELA-AU 1 55603608 55603608 single base substitution G A intron_variant MELA-AU 1 55604107 55604107 single base substitution A G intron_variant MELA-AU 1 55604293 55604293 single base substitution G A synonymous_variant T812T 2436C>T MELA-AU 1 55604293 55604293 single base substitution G A synonymous_variant T972T 2916C>T MELA-AU 1 55606272 55606273 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 55606395 55606395 single base substitution G A intron_variant MELA-AU 1 55606476 55606476 single base substitution T A intron_variant MELA-AU 1 55607085 55607085 single base substitution G A intron_variant MELA-AU 1 55607919 55607919 single base substitution G A intron_variant MELA-AU 1 55608059 55608059 single base substitution G A intron_variant MELA-AU 1 55608127 55608127 single base substitution G A intron_variant MELA-AU 1 55608163 55608163 single base substitution C T intron_variant MELA-AU 1 55608626 55608626 single base substitution G A intron_variant MELA-AU 1 55609388 55609388 deletion of <=200bp T - intron_variant MELA-AU 1 55609536 55609536 single base substitution C A intron_variant MELA-AU 1 55611074 55611074 single base substitution G A intron_variant MELA-AU 1 55611086 55611086 single base substitution G A intron_variant MELA-AU 1 55611089 55611089 single base substitution A C intron_variant MELA-AU 1 55611198 55611198 single base substitution G A intron_variant MELA-AU 1 55611216 55611216 single base substitution G A intron_variant MELA-AU 1 55612742 55612742 single base substitution A T intron_variant MELA-AU 1 55612790 55612790 single base substitution C T intron_variant MELA-AU 1 55613130 55613130 single base substitution A T intron_variant MELA-AU 1 55613310 55613310 single base substitution A C intron_variant MELA-AU 1 55613325 55613325 single base substitution C T synonymous_variant R545R 1635G>A MELA-AU 1 55613325 55613325 single base substitution C T synonymous_variant R705R 2115G>A MELA-AU 1 55614186 55614186 single base substitution G A missense_variant H480Y 1438C>T MELA-AU 1 55614186 55614186 single base substitution G A missense_variant H640Y 1918C>T MELA-AU 1 55614521 55614521 single base substitution G A intron_variant MELA-AU 1 55614618 55614618 single base substitution G C intron_variant MELA-AU 1 55615775 55615775 single base substitution G A intron_variant MELA-AU 1 55615851 55615851 single base substitution T C intron_variant MELA-AU 1 55616206 55616206 single base substitution C T intron_variant MELA-AU 1 55616724 55616724 single base substitution G A intron_variant MELA-AU 1 55617909 55617909 single base substitution C T intron_variant MELA-AU 1 55618202 55618202 single base substitution A G intron_variant MELA-AU 1 55618586 55618586 single base substitution G A intron_variant MELA-AU 1 55619128 55619128 single base substitution G A intron_variant MELA-AU 1 55619470 55619470 single base substitution T A intron_variant MELA-AU 1 55620270 55620270 single base substitution G A intron_variant MELA-AU 1 55620300 55620300 single base substitution T C intron_variant MELA-AU 1 55622263 55622263 single base substitution G A intron_variant MELA-AU 1 55622482 55622482 single base substitution A G intron_variant MELA-AU 1 55624316 55624316 single base substitution G A intron_variant MELA-AU 1 55624743 55624743 single base substitution G A intron_variant MELA-AU 1 55624995 55624995 single base substitution T G intron_variant MELA-AU 1 55626592 55626592 single base substitution G A intron_variant MELA-AU 1 55626666 55626666 single base substitution G A intron_variant MELA-AU 1 55626780 55626780 single base substitution C T intron_variant MELA-AU 1 55627045 55627045 single base substitution G A intron_variant MELA-AU 1 55628291 55628291 single base substitution G A intron_variant MELA-AU 1 55628603 55628603 single base substitution A G intron_variant MELA-AU 1 55628826 55628826 single base substitution G A intron_variant MELA-AU 1 55628851 55628851 single base substitution G A intron_variant MELA-AU 1 55629684 55629684 single base substitution G A intron_variant MELA-AU 1 55629997 55629998 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 1 55630463 55630463 single base substitution G A intron_variant MELA-AU 1 55630735 55630735 single base substitution C T intron_variant MELA-AU 1 55631034 55631034 single base substitution C T intron_variant MELA-AU 1 55631464 55631464 single base substitution T C intron_variant MELA-AU 1 55631805 55631805 single base substitution T C intron_variant MELA-AU 1 55632876 55632876 single base substitution G A intron_variant MELA-AU 1 55632931 55632931 single base substitution G A intron_variant MELA-AU 1 55633185 55633185 single base substitution G A intron_variant MELA-AU 1 55634354 55634354 single base substitution G A intron_variant MELA-AU 1 55634958 55634958 single base substitution G A intron_variant MELA-AU 1 55634972 55634972 single base substitution G A intron_variant MELA-AU 1 55635055 55635055 single base substitution G A intron_variant MELA-AU 1 55635252 55635252 single base substitution G A intron_variant MELA-AU 1 55635751 55635751 single base substitution G A intron_variant MELA-AU 1 55636293 55636293 single base substitution G A intron_variant MELA-AU 1 55637295 55637295 single base substitution C T synonymous_variant R141R 423G>A MELA-AU 1 55637295 55637295 single base substitution C T synonymous_variant R253R 759G>A MELA-AU 1 55637732 55637732 single base substitution G A intron_variant MELA-AU 1 55637834 55637834 single base substitution C T intron_variant MELA-AU 1 55638085 55638085 single base substitution G A missense_variant P111S 331C>T MELA-AU 1 55638085 55638085 single base substitution G A missense_variant P223S 667C>T MELA-AU 1 55638392 55638392 single base substitution G A intron_variant MELA-AU 1 55639254 55639255 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 55639965 55639965 single base substitution G A intron_variant MELA-AU 1 55640446 55640446 single base substitution A C intron_variant MELA-AU 1 55640585 55640585 single base substitution G A intron_variant MELA-AU 1 55640790 55640790 single base substitution T C intron_variant MELA-AU 1 55641193 55641193 single base substitution C T intron_variant MELA-AU 1 55642288 55642288 single base substitution G A intron_variant MELA-AU 1 55644275 55644275 single base substitution G A intron_variant MELA-AU 1 55644409 55644409 single base substitution A G intron_variant MELA-AU 1 55644593 55644593 single base substitution A G intron_variant MELA-AU 1 55644904 55644904 single base substitution G A intron_variant MELA-AU 1 55645782 55645782 single base substitution G A intron_variant MELA-AU 1 55646258 55646258 single base substitution G A intron_variant MELA-AU 1 55647012 55647012 single base substitution G A intron_variant MELA-AU 1 55647032 55647032 single base substitution A G intron_variant MELA-AU 1 55647151 55647151 single base substitution T C intron_variant MELA-AU 1 55647564 55647564 single base substitution G A intron_variant MELA-AU 1 55649671 55649671 single base substitution G A intron_variant MELA-AU 1 55649833 55649833 single base substitution G A intron_variant MELA-AU 1 55650036 55650036 single base substitution G A intron_variant MELA-AU 1 55650548 55650548 single base substitution G A intron_variant MELA-AU 1 55650607 55650607 single base substitution G A intron_variant MELA-AU 1 55650967 55650967 single base substitution G A intron_variant MELA-AU 1 55653270 55653270 single base substitution G A intron_variant MELA-AU 1 55653489 55653489 single base substitution A G intron_variant MELA-AU 1 55655771 55655771 single base substitution G A intron_variant MELA-AU 1 55656193 55656193 single base substitution C G intron_variant MELA-AU 1 55656825 55656825 single base substitution T G intron_variant MELA-AU 1 55657554 55657554 single base substitution G C intron_variant MELA-AU 1 55657709 55657709 single base substitution C T intron_variant MELA-AU 1 55657752 55657752 single base substitution A T intron_variant MELA-AU 1 55657756 55657756 single base substitution C T intron_variant MELA-AU 1 55658182 55658182 single base substitution G A intron_variant MELA-AU 1 55658335 55658335 single base substitution T G intron_variant MELA-AU 1 55659037 55659037 single base substitution G A intron_variant MELA-AU 1 55659455 55659455 single base substitution G A intron_variant MELA-AU 1 55661283 55661283 single base substitution G A intron_variant MELA-AU 1 55661509 55661509 single base substitution G A intron_variant MELA-AU 1 55661653 55661653 single base substitution C A intron_variant MELA-AU 1 55661976 55661976 single base substitution G A intron_variant MELA-AU 1 55663376 55663376 single base substitution G A intron_variant MELA-AU 1 55663585 55663585 single base substitution G A intron_variant MELA-AU 1 55663649 55663649 single base substitution G A intron_variant MELA-AU 1 55663949 55663949 single base substitution C T intron_variant MELA-AU 1 55664544 55664544 single base substitution A C intron_variant MELA-AU 1 55664661 55664661 single base substitution T G intron_variant MELA-AU 1 55665404 55665404 single base substitution T A intron_variant MELA-AU 1 55665509 55665509 single base substitution G A intron_variant MELA-AU 1 55665722 55665722 single base substitution G A intron_variant MELA-AU 1 55665817 55665817 single base substitution G A intron_variant MELA-AU 1 55665953 55665953 single base substitution G A intron_variant MELA-AU 1 55666967 55666967 single base substitution C T intron_variant MELA-AU 1 55668904 55668904 single base substitution G A intron_variant MELA-AU 1 55669966 55669966 single base substitution C G intron_variant MELA-AU 1 55670504 55670504 single base substitution C A intron_variant MELA-AU 1 55671447 55671447 single base substitution G A intron_variant MELA-AU 1 55672288 55672288 single base substitution G A intron_variant MELA-AU 1 55672442 55672442 single base substitution A T intron_variant MELA-AU 1 55672818 55672818 single base substitution G A intron_variant MELA-AU 1 55673359 55673360 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 1 55673504 55673504 single base substitution G A intron_variant MELA-AU 1 55673880 55673880 single base substitution G A intron_variant MELA-AU 1 55674334 55674334 single base substitution G A intron_variant MELA-AU 1 55674696 55674696 single base substitution G C intron_variant MELA-AU 1 55675580 55675580 single base substitution A T intron_variant MELA-AU 1 55676015 55676015 single base substitution G A intron_variant MELA-AU 1 55676310 55676310 single base substitution G A intron_variant MELA-AU 1 55677354 55677354 single base substitution T C intron_variant MELA-AU 1 55678273 55678273 single base substitution G A intron_variant MELA-AU 1 55679404 55679404 single base substitution C T intron_variant MELA-AU 1 55680321 55680322 deletion of <=200bp TC - intron_variant MELA-AU 1 55681040 55681040 single base substitution C T upstream_gene_variant MELA-AU 1 55681393 55681393 single base substitution C T upstream_gene_variant MELA-AU 1 55681468 55681469 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 55681728 55681728 single base substitution G A upstream_gene_variant MELA-AU 1 55683042 55683042 single base substitution G A upstream_gene_variant MELA-AU 1 55683112 55683112 single base substitution A G upstream_gene_variant MELA-AU 1 55684033 55684033 single base substitution G A upstream_gene_variant MELA-AU 1 55684751 55684751 single base substitution G A upstream_gene_variant MELA-AU 1 55685671 55685671 single base substitution G T upstream_gene_variant ORCA-IN 1 55529196 55529196 single base substitution C A downstream_gene_variant ORCA-IN 1 55562650 55562650 single base substitution A T missense_variant Y1811N 5431T>A ORCA-IN 1 55562650 55562650 single base substitution A T missense_variant Y1971N 5911T>A ORCA-IN 1 55562650 55562650 single base substitution A T upstream_gene_variant ORCA-IN 1 55565278 55565278 single base substitution C A intron_variant ORCA-IN 1 55565278 55565278 single base substitution C A upstream_gene_variant OV-AU 1 55529530 55529530 single base substitution G C downstream_gene_variant OV-AU 1 55536418 55536418 single base substitution C G downstream_gene_variant OV-AU 1 55536418 55536418 single base substitution C G intron_variant OV-AU 1 55544785 55544785 single base substitution T C downstream_gene_variant OV-AU 1 55544785 55544785 single base substitution T C intron_variant OV-AU 1 55544785 55544785 single base substitution T C upstream_gene_variant OV-AU 1 55545773 55545773 single base substitution C T downstream_gene_variant OV-AU 1 55545773 55545773 single base substitution C T intron_variant OV-AU 1 55545773 55545773 single base substitution C T upstream_gene_variant OV-AU 1 55546327 55546327 single base substitution T C downstream_gene_variant OV-AU 1 55546327 55546327 single base substitution T C intron_variant OV-AU 1 55559189 55559189 single base substitution G A downstream_gene_variant OV-AU 1 55559189 55559189 single base substitution G A intron_variant OV-AU 1 55563057 55563057 single base substitution T C intron_variant OV-AU 1 55563057 55563057 single base substitution T C upstream_gene_variant OV-AU 1 55565678 55565678 single base substitution G A intron_variant OV-AU 1 55565678 55565678 single base substitution G A upstream_gene_variant OV-AU 1 55568038 55568038 single base substitution T C intron_variant OV-AU 1 55570754 55570754 single base substitution T C intron_variant OV-AU 1 55572328 55572328 single base substitution A C intron_variant OV-AU 1 55577794 55577794 single base substitution C T intron_variant OV-AU 1 55581979 55581979 single base substitution G T intron_variant OV-AU 1 55593074 55593074 single base substitution C T intron_variant OV-AU 1 55593643 55593643 single base substitution C A intron_variant OV-AU 1 55594248 55594248 single base substitution C T intron_variant OV-AU 1 55598281 55598281 single base substitution T C synonymous_variant L1158L 3474A>G OV-AU 1 55598281 55598281 single base substitution T C synonymous_variant L998L 2994A>G OV-AU 1 55602619 55602619 single base substitution G T intron_variant OV-AU 1 55609982 55609982 single base substitution T C intron_variant OV-AU 1 55610944 55610944 single base substitution C G intron_variant OV-AU 1 55611389 55611389 single base substitution G C intron_variant OV-AU 1 55648365 55648365 single base substitution A G intron_variant OV-AU 1 55648673 55648673 single base substitution T C intron_variant OV-AU 1 55656286 55656286 single base substitution T C intron_variant OV-AU 1 55660705 55660705 single base substitution A C intron_variant OV-AU 1 55660711 55660711 single base substitution A G intron_variant OV-AU 1 55666165 55666165 single base substitution A G intron_variant OV-AU 1 55677753 55677753 single base substitution A C intron_variant OV-US 1 55544264 55544264 single base substitution A G downstream_gene_variant OV-US 1 55544264 55544264 single base substitution A G missense_variant Y2261H 6781T>C OV-US 1 55544264 55544264 single base substitution A G missense_variant Y2421H 7261T>C OV-US 1 55544264 55544264 single base substitution A G upstream_gene_variant PACA-AU 1 55528793 55528793 deletion of <=200bp T - downstream_gene_variant PACA-AU 1 55530342 55530342 single base substitution G C downstream_gene_variant PACA-AU 1 55533297 55533297 single base substitution G A 3_prime_UTR_variant PACA-AU 1 55533297 55533297 single base substitution G A downstream_gene_variant PACA-AU 1 55544668 55544668 single base substitution T A downstream_gene_variant PACA-AU 1 55544668 55544668 single base substitution T A intron_variant PACA-AU 1 55544668 55544668 single base substitution T A upstream_gene_variant PACA-AU 1 55549009 55549011 deletion of <=200bp AGA - disruptive_inframe_deletion LL2143L PACA-AU 1 55549009 55549011 deletion of <=200bp AGA - disruptive_inframe_deletion LL2303L PACA-AU 1 55549009 55549011 deletion of <=200bp AGA - downstream_gene_variant PACA-AU 1 55549009 55549011 deletion of <=200bp AGA - exon_variant PACA-AU 1 55560615 55560615 single base substitution G A intron_variant PACA-AU 1 55568576 55568576 single base substitution T G intron_variant PACA-AU 1 55572915 55572915 single base substitution G A missense_variant L1427F 4279C>T PACA-AU 1 55572915 55572915 single base substitution G A missense_variant L1587F 4759C>T PACA-AU 1 55581437 55581437 single base substitution A G intron_variant PACA-AU 1 55583507 55583508 deletion of <=200bp TG - intron_variant PACA-AU 1 55584450 55584450 single base substitution G A intron_variant PACA-AU 1 55593571 55593571 single base substitution G A intron_variant PACA-AU 1 55594105 55594105 single base substitution C T intron_variant PACA-AU 1 55599864 55599864 single base substitution C T intron_variant PACA-AU 1 55603339 55603339 single base substitution T A missense_variant K1017M 3050A>T PACA-AU 1 55603339 55603339 single base substitution T A missense_variant K857M 2570A>T PACA-AU 1 55611155 55611155 single base substitution T C intron_variant PACA-AU 1 55614194 55614194 single base substitution C T missense_variant R477H 1430G>A PACA-AU 1 55614194 55614194 single base substitution C T missense_variant R637H 1910G>A PACA-AU 1 55617663 55617663 single base substitution C T intron_variant PACA-AU 1 55621748 55621750 deletion of <=200bp AGT - intron_variant PACA-AU 1 55622249 55622249 single base substitution T A intron_variant PACA-AU 1 55627841 55627841 single base substitution T C intron_variant PACA-AU 1 55630564 55630564 single base substitution T A intron_variant PACA-AU 1 55631727 55631727 single base substitution C T intron_variant PACA-AU 1 55644369 55644369 single base substitution T C intron_variant PACA-AU 1 55644373 55644373 single base substitution T C intron_variant PACA-AU 1 55644819 55644819 single base substitution C G intron_variant PACA-AU 1 55651135 55651135 single base substitution T A intron_variant PACA-AU 1 55652599 55652602 deletion of <=200bp TATG - intron_variant PACA-AU 1 55657163 55657166 deletion of <=200bp CTTT - intron_variant PACA-AU 1 55665297 55665297 single base substitution A T intron_variant PACA-AU 1 55669004 55669004 single base substitution G T intron_variant PACA-AU 1 55672895 55672895 deletion of <=200bp G - intron_variant PACA-AU 1 55682372 55682372 single base substitution C A upstream_gene_variant PACA-AU 1 55683170 55683170 single base substitution G A upstream_gene_variant PACA-CA 1 55528694 55528694 single base substitution G A downstream_gene_variant PACA-CA 1 55538046 55538046 single base substitution T C exon_variant PACA-CA 1 55538046 55538046 single base substitution T C missense_variant N2385D 7153A>G PACA-CA 1 55538046 55538046 single base substitution T C missense_variant N2545D 7633A>G PACA-CA 1 55542828 55542828 single base substitution G C downstream_gene_variant PACA-CA 1 55542828 55542828 single base substitution G C intron_variant PACA-CA 1 55542828 55542828 single base substitution G C upstream_gene_variant PACA-CA 1 55546757 55546757 deletion of <=200bp A - downstream_gene_variant PACA-CA 1 55546757 55546757 deletion of <=200bp A - intron_variant PACA-CA 1 55550927 55550927 single base substitution C T intron_variant PACA-CA 1 55554348 55554348 single base substitution G A downstream_gene_variant PACA-CA 1 55554348 55554348 single base substitution G A intron_variant PACA-CA 1 55554348 55554348 single base substitution G A upstream_gene_variant PACA-CA 1 55555013 55555013 single base substitution G C downstream_gene_variant PACA-CA 1 55555013 55555013 single base substitution G C intron_variant PACA-CA 1 55555013 55555013 single base substitution G C upstream_gene_variant PACA-CA 1 55561085 55561085 single base substitution T G intron_variant PACA-CA 1 55561085 55561085 single base substitution T G upstream_gene_variant PACA-CA 1 55563679 55563679 single base substitution T C synonymous_variant Q1684Q 5052A>G PACA-CA 1 55563679 55563679 single base substitution T C synonymous_variant Q1844Q 5532A>G PACA-CA 1 55563679 55563679 single base substitution T C upstream_gene_variant PACA-CA 1 55570142 55570142 deletion of <=200bp A - intron_variant PACA-CA 1 55580470 55580470 single base substitution G A intron_variant PACA-CA 1 55583331 55583333 deletion of <=200bp GCC - intron_variant PACA-CA 1 55588026 55588026 single base substitution C T intron_variant PACA-CA 1 55588422 55588422 single base substitution C T intron_variant PACA-CA 1 55591473 55591473 insertion of <=200bp - T intron_variant PACA-CA 1 55593058 55593058 single base substitution A T intron_variant PACA-CA 1 55601329 55601329 single base substitution C T intron_variant PACA-CA 1 55603352 55603352 single base substitution T A missense_variant N1013Y 3037A>T PACA-CA 1 55603352 55603352 single base substitution T A missense_variant N853Y 2557A>T PACA-CA 1 55603476 55603476 single base substitution T C splice_region_variant PACA-CA 1 55604015 55604015 single base substitution G T intron_variant PACA-CA 1 55605580 55605580 single base substitution A C intron_variant PACA-CA 1 55610825 55610825 single base substitution T G intron_variant PACA-CA 1 55610854 55610854 single base substitution C T intron_variant PACA-CA 1 55623364 55623364 single base substitution G T intron_variant PACA-CA 1 55623551 55623551 single base substitution C G intron_variant PACA-CA 1 55628525 55628525 single base substitution T A intron_variant PACA-CA 1 55636846 55636846 single base substitution A T intron_variant PACA-CA 1 55637888 55637888 single base substitution A C intron_variant PACA-CA 1 55639037 55639037 single base substitution A G intron_variant PACA-CA 1 55641089 55641089 single base substitution T C intron_variant PACA-CA 1 55642287 55642287 single base substitution C T intron_variant PACA-CA 1 55644935 55644935 single base substitution G A intron_variant PACA-CA 1 55646281 55646281 single base substitution C T intron_variant PACA-CA 1 55646496 55646496 single base substitution G C intron_variant PACA-CA 1 55649671 55649671 single base substitution G A intron_variant PACA-CA 1 55651944 55651944 insertion of <=200bp - A intron_variant PACA-CA 1 55655016 55655016 single base substitution G T intron_variant PACA-CA 1 55664104 55664104 single base substitution G A intron_variant PACA-CA 1 55665297 55665297 single base substitution A T intron_variant PACA-CA 1 55666353 55666353 deletion of <=200bp A - intron_variant PACA-CA 1 55668655 55668655 single base substitution C A intron_variant PACA-CA 1 55672056 55672056 single base substitution T C intron_variant PACA-CA 1 55675787 55675787 single base substitution G T intron_variant PAEN-AU 1 55644350 55644357 deletion of <=200bp AAATAAAT - intron_variant PAEN-AU 1 55666296 55666296 single base substitution C A intron_variant PAEN-AU 1 55683168 55683168 single base substitution T G upstream_gene_variant PAEN-IT 1 55536214 55536214 single base substitution C A downstream_gene_variant PAEN-IT 1 55536214 55536214 single base substitution C A intron_variant PAEN-IT 1 55573472 55573472 single base substitution G A intron_variant PAEN-IT 1 55575703 55575703 single base substitution T A intron_variant PAEN-IT 1 55597383 55597383 single base substitution G T intron_variant PAEN-IT 1 55612535 55612535 single base substitution G A intron_variant PAEN-IT 1 55656797 55656797 single base substitution T C intron_variant PBCA-DE 1 55598308 55598308 single base substitution C T synonymous_variant Q1149Q 3447G>A PBCA-DE 1 55598308 55598308 single base substitution C T synonymous_variant Q989Q 2967G>A PBCA-DE 1 55608457 55608457 single base substitution A G synonymous_variant S704S 2112T>C PBCA-DE 1 55608457 55608457 single base substitution A G synonymous_variant S864S 2592T>C PBCA-DE 1 55620686 55620686 insertion of <=200bp - A intron_variant PBCA-DE 1 55627720 55627720 single base substitution T A intron_variant PBCA-DE 1 55631323 55631323 insertion of <=200bp - A intron_variant PBCA-DE 1 55631385 55631386 deletion of <=200bp TT - intron_variant PBCA-DE 1 55634092 55634092 insertion of <=200bp - A intron_variant PBCA-DE 1 55648669 55648669 single base substitution G T intron_variant PBCA-DE 1 55649740 55649740 single base substitution G T intron_variant PBCA-DE 1 55666205 55666205 insertion of <=200bp - T intron_variant PBCA-DE 1 55670946 55670946 single base substitution C A intron_variant PBCA-DE 1 55676431 55676431 single base substitution C A intron_variant PBCA-DE 1 55680321 55680322 deletion of <=200bp TC - intron_variant PBCA-DE 1 55682058 55682058 single base substitution T A upstream_gene_variant PRAD-CA 1 55541342 55541342 single base substitution C A intron_variant PRAD-CA 1 55541342 55541342 single base substitution C A upstream_gene_variant PRAD-CA 1 55624560 55624560 single base substitution A G synonymous_variant S294S 882T>C PRAD-CA 1 55624560 55624560 single base substitution A G synonymous_variant S406S 1218T>C PRAD-CA 1 55650538 55650538 single base substitution G C intron_variant PRAD-CA 1 55682299 55682299 single base substitution C T upstream_gene_variant PRAD-UK 1 55546208 55546208 single base substitution C A downstream_gene_variant PRAD-UK 1 55546208 55546208 single base substitution C A intron_variant PRAD-UK 1 55563760 55563760 single base substitution G A splice_region_variant PRAD-UK 1 55563760 55563760 single base substitution G A upstream_gene_variant PRAD-UK 1 55571036 55571036 single base substitution A T intron_variant PRAD-UK 1 55575796 55575796 single base substitution G A intron_variant PRAD-UK 1 55579289 55579289 single base substitution G A intron_variant PRAD-UK 1 55584289 55584289 single base substitution G C intron_variant PRAD-UK 1 55596945 55596945 single base substitution A G intron_variant PRAD-UK 1 55604453 55604453 single base substitution A G intron_variant PRAD-UK 1 55656339 55656339 single base substitution T G intron_variant PRAD-UK 1 55672331 55672331 single base substitution A T intron_variant PRAD-UK 1 55675342 55675342 single base substitution C T intron_variant PRAD-UK 1 55676842 55676842 single base substitution A T intron_variant PRAD-UK 1 55682330 55682330 single base substitution T C upstream_gene_variant PRAD-US 1 55538531 55538532 deletion of <=200bp AC - exon_variant PRAD-US 1 55538531 55538532 deletion of <=200bp AC - frameshift_variant C2350 PRAD-US 1 55538531 55538532 deletion of <=200bp AC - frameshift_variant C2510 PRAD-US 1 55538531 55538532 deletion of <=200bp AC - splice_region_variant READ-US 1 55563349 55563349 single base substitution G A synonymous_variant S1719S 5157C>T READ-US 1 55563349 55563349 single base substitution G A synonymous_variant S1879S 5637C>T READ-US 1 55563349 55563349 single base substitution G A upstream_gene_variant READ-US 1 55611704 55611704 single base substitution G T missense_variant L617I 1849C>A READ-US 1 55611704 55611704 single base substitution G T missense_variant L777I 2329C>A READ-US 1 55622667 55622667 single base substitution C T missense_variant G355D 1064G>A READ-US 1 55622667 55622667 single base substitution C T missense_variant G467D 1400G>A READ-US 1 55623038 55623038 single base substitution G A synonymous_variant T299T 897C>T READ-US 1 55623038 55623038 single base substitution G A synonymous_variant T411T 1233C>T READ-US 1 55642086 55642088 deletion of <=200bp CTT - disruptive_inframe_deletion RR173R READ-US 1 55642086 55642088 deletion of <=200bp CTT - disruptive_inframe_deletion RR61R READ-US 1 55643711 55643711 single base substitution C A intron_variant READ-US 1 55643711 55643711 single base substitution C A missense_variant W140L 419G>T RECA-EU 1 55530497 55530497 single base substitution A C downstream_gene_variant RECA-EU 1 55544231 55544231 single base substitution T G downstream_gene_variant RECA-EU 1 55544231 55544231 single base substitution T G missense_variant T2272P 6814A>C RECA-EU 1 55544231 55544231 single base substitution T G missense_variant T2432P 7294A>C RECA-EU 1 55544231 55544231 single base substitution T G upstream_gene_variant RECA-EU 1 55544838 55544838 single base substitution A T downstream_gene_variant RECA-EU 1 55544838 55544838 single base substitution A T intron_variant RECA-EU 1 55544838 55544838 single base substitution A T upstream_gene_variant RECA-EU 1 55549949 55549949 single base substitution C A intron_variant RECA-EU 1 55552202 55552202 single base substitution T C intron_variant RECA-EU 1 55552202 55552202 single base substitution T C upstream_gene_variant RECA-EU 1 55562241 55562241 single base substitution A T missense_variant F1837L 5511T>A RECA-EU 1 55562241 55562241 single base substitution A T missense_variant F1997L 5991T>A RECA-EU 1 55562241 55562241 single base substitution A T upstream_gene_variant RECA-EU 1 55584415 55584415 single base substitution G T intron_variant RECA-EU 1 55584416 55584416 single base substitution T C intron_variant RECA-EU 1 55584560 55584560 single base substitution A G intron_variant RECA-EU 1 55584889 55584889 single base substitution A G intron_variant RECA-EU 1 55585210 55585210 single base substitution T A intron_variant RECA-EU 1 55588096 55588096 single base substitution C G intron_variant RECA-EU 1 55602897 55602897 single base substitution C T intron_variant RECA-EU 1 55622661 55622661 single base substitution T A missense_variant K357I 1070A>T RECA-EU 1 55622661 55622661 single base substitution T A missense_variant K469I 1406A>T RECA-EU 1 55622884 55622884 single base substitution T A intron_variant RECA-EU 1 55625315 55625315 single base substitution C T missense_variant R234Q 701G>A RECA-EU 1 55625315 55625315 single base substitution C T missense_variant R346Q 1037G>A RECA-EU 1 55629476 55629476 single base substitution G C intron_variant RECA-EU 1 55638028 55638028 single base substitution C G intron_variant RECA-EU 1 55643359 55643359 single base substitution G A intron_variant RECA-EU 1 55646008 55646008 single base substitution C A intron_variant RECA-EU 1 55662669 55662669 single base substitution T G intron_variant RECA-EU 1 55678016 55678016 single base substitution C T intron_variant SKCA-BR 1 55528232 55528232 single base substitution G A downstream_gene_variant SKCA-BR 1 55531331 55531331 single base substitution G A downstream_gene_variant SKCA-BR 1 55531455 55531455 single base substitution G A downstream_gene_variant SKCA-BR 1 55532190 55532190 single base substitution T C 3_prime_UTR_variant SKCA-BR 1 55532190 55532190 single base substitution T C downstream_gene_variant SKCA-BR 1 55540322 55540322 insertion of <=200bp - AATAC intron_variant SKCA-BR 1 55540322 55540322 insertion of <=200bp - AATAC upstream_gene_variant SKCA-BR 1 55541542 55541542 single base substitution T C intron_variant SKCA-BR 1 55541542 55541542 single base substitution T C upstream_gene_variant SKCA-BR 1 55551955 55551955 single base substitution G A exon_variant SKCA-BR 1 55551955 55551955 single base substitution G A intron_variant SKCA-BR 1 55553919 55553919 single base substitution G A intron_variant SKCA-BR 1 55553919 55553919 single base substitution G A upstream_gene_variant SKCA-BR 1 55560099 55560099 single base substitution T C intron_variant SKCA-BR 1 55562875 55562875 single base substitution G A intron_variant SKCA-BR 1 55562875 55562875 single base substitution G A upstream_gene_variant SKCA-BR 1 55563408 55563408 single base substitution G A intron_variant SKCA-BR 1 55563408 55563408 single base substitution G A upstream_gene_variant SKCA-BR 1 55564638 55564638 single base substitution G A intron_variant SKCA-BR 1 55564638 55564638 single base substitution G A upstream_gene_variant SKCA-BR 1 55566153 55566153 single base substitution G A intron_variant SKCA-BR 1 55571488 55571488 single base substitution G A intron_variant SKCA-BR 1 55572149 55572149 single base substitution T G intron_variant SKCA-BR 1 55575412 55575412 single base substitution G A intron_variant SKCA-BR 1 55577380 55577380 single base substitution C T intron_variant SKCA-BR 1 55579439 55579439 single base substitution T C intron_variant SKCA-BR 1 55581494 55581494 single base substitution G A intron_variant SKCA-BR 1 55583415 55583415 insertion of <=200bp - CA intron_variant SKCA-BR 1 55584057 55584057 single base substitution G A intron_variant SKCA-BR 1 55586897 55586897 single base substitution C T intron_variant SKCA-BR 1 55589548 55589548 single base substitution G A intron_variant SKCA-BR 1 55594386 55594387 deletion of <=200bp CT - intron_variant SKCA-BR 1 55598116 55598116 single base substitution C A intron_variant SKCA-BR 1 55599311 55599312 deletion of <=200bp CT - intron_variant SKCA-BR 1 55601085 55601085 single base substitution G A intron_variant SKCA-BR 1 55601086 55601086 single base substitution G A intron_variant SKCA-BR 1 55601677 55601677 single base substitution G A intron_variant SKCA-BR 1 55606493 55606493 insertion of <=200bp - TA intron_variant SKCA-BR 1 55608522 55608522 single base substitution T C intron_variant SKCA-BR 1 55613946 55613947 deletion of <=200bp TA - intron_variant SKCA-BR 1 55615339 55615339 single base substitution C A intron_variant SKCA-BR 1 55615351 55615351 single base substitution A C intron_variant SKCA-BR 1 55621619 55621619 single base substitution C T intron_variant SKCA-BR 1 55627648 55627648 single base substitution G A intron_variant SKCA-BR 1 55634740 55634740 single base substitution A C intron_variant SKCA-BR 1 55634782 55634782 single base substitution G A intron_variant SKCA-BR 1 55639076 55639076 single base substitution T C intron_variant SKCA-BR 1 55641990 55641990 single base substitution C T intron_variant SKCA-BR 1 55644118 55644118 single base substitution G A intron_variant SKCA-BR 1 55644275 55644275 single base substitution G A intron_variant SKCA-BR 1 55648022 55648022 single base substitution G A intron_variant SKCA-BR 1 55648522 55648522 single base substitution G A intron_variant SKCA-BR 1 55653222 55653222 single base substitution G A intron_variant SKCA-BR 1 55653737 55653737 single base substitution G A intron_variant SKCA-BR 1 55655286 55655286 single base substitution G A intron_variant SKCA-BR 1 55657167 55657167 insertion of <=200bp - CT intron_variant SKCA-BR 1 55660450 55660450 single base substitution C T intron_variant SKCA-BR 1 55661868 55661868 single base substitution A C intron_variant SKCA-BR 1 55661873 55661873 single base substitution A C intron_variant SKCA-BR 1 55668059 55668059 single base substitution G A intron_variant SKCA-BR 1 55670349 55670349 single base substitution C T intron_variant SKCA-BR 1 55670848 55670848 single base substitution G A intron_variant SKCA-BR 1 55672330 55672330 insertion of <=200bp - TA intron_variant SKCA-BR 1 55675612 55675612 single base substitution T G intron_variant SKCA-BR 1 55679893 55679893 single base substitution G A intron_variant SKCA-BR 1 55680191 55680191 single base substitution G T intron_variant SKCA-BR 1 55680866 55680866 single base substitution T C upstream_gene_variant SKCA-BR 1 55681400 55681400 single base substitution C T upstream_gene_variant SKCA-BR 1 55683236 55683236 single base substitution A T upstream_gene_variant SKCA-BR 1 55685108 55685108 single base substitution G A upstream_gene_variant SKCM-US 1 55529118 55529118 single base substitution C T downstream_gene_variant SKCM-US 1 55545290 55545290 single base substitution G A downstream_gene_variant SKCM-US 1 55545290 55545290 single base substitution G A missense_variant P2214L 6641C>T SKCM-US 1 55545290 55545290 single base substitution G A missense_variant P2374L 7121C>T SKCM-US 1 55545290 55545290 single base substitution G A upstream_gene_variant SKCM-US 1 55545306 55545306 single base substitution G A downstream_gene_variant SKCM-US 1 55545306 55545306 single base substitution G A missense_variant P2209S 6625C>T SKCM-US 1 55545306 55545306 single base substitution G A missense_variant P2369S 7105C>T SKCM-US 1 55545306 55545306 single base substitution G A upstream_gene_variant SKCM-US 1 55548966 55548966 single base substitution C T downstream_gene_variant SKCM-US 1 55548966 55548966 single base substitution C T exon_variant SKCM-US 1 55548966 55548966 single base substitution C T synonymous_variant G2158G 6474G>A SKCM-US 1 55548966 55548966 single base substitution C T synonymous_variant G2318G 6954G>A SKCM-US 1 55559734 55559734 single base substitution G A exon_variant SKCM-US 1 55559734 55559734 single base substitution G A missense_variant S1917L 5750C>T SKCM-US 1 55559734 55559734 single base substitution G A missense_variant S2077L 6230C>T SKCM-US 1 55563389 55563389 single base substitution C T missense_variant R1706K 5117G>A SKCM-US 1 55563389 55563389 single base substitution C T missense_variant R1866K 5597G>A SKCM-US 1 55563389 55563389 single base substitution C T upstream_gene_variant SKCM-US 1 55572982 55572982 single base substitution G A synonymous_variant I1404I 4212C>T SKCM-US 1 55572982 55572982 single base substitution G A synonymous_variant I1564I 4692C>T SKCM-US 1 55586392 55586392 single base substitution C T missense_variant S1302N 3905G>A SKCM-US 1 55586392 55586392 single base substitution C T missense_variant S1462N 4385G>A SKCM-US 1 55591072 55591072 single base substitution G A missense_variant S1134F 3401C>T SKCM-US 1 55591072 55591072 single base substitution G A missense_variant S1294F 3881C>T SKCM-US 1 55598327 55598327 single base substitution G A missense_variant S1143F 3428C>T SKCM-US 1 55598327 55598327 single base substitution G A missense_variant S983F 2948C>T SKCM-US 1 55598348 55598348 single base substitution G A missense_variant S1136F 3407C>T SKCM-US 1 55598348 55598348 single base substitution G A missense_variant S976F 2927C>T SKCM-US 1 55599781 55599781 single base substitution G A stop_gained Q1115* 3343C>T SKCM-US 1 55599781 55599781 single base substitution G A stop_gained Q955* 2863C>T STAD-US 1 55529119 55529119 single base substitution C A downstream_gene_variant STAD-US 1 55548945 55548945 single base substitution C A downstream_gene_variant STAD-US 1 55548945 55548945 single base substitution C A missense_variant Q2165H 6495G>T STAD-US 1 55548945 55548945 single base substitution C A missense_variant Q2325H 6975G>T STAD-US 1 55548945 55548945 single base substitution C A splice_region_variant STAD-US 1 55559693 55559693 single base substitution G A exon_variant STAD-US 1 55559693 55559693 single base substitution G A missense_variant R1931W 5791C>T STAD-US 1 55559693 55559693 single base substitution G A missense_variant R2091W 6271C>T STAD-US 1 55562631 55562631 single base substitution T C missense_variant D1817G 5450A>G STAD-US 1 55562631 55562631 single base substitution T C missense_variant D1977G 5930A>G STAD-US 1 55562631 55562631 single base substitution T C upstream_gene_variant STAD-US 1 55562769 55562769 single base substitution T C missense_variant E1771G 5312A>G STAD-US 1 55562769 55562769 single base substitution T C missense_variant E1931G 5792A>G STAD-US 1 55562769 55562769 single base substitution T C upstream_gene_variant STAD-US 1 55563749 55563749 single base substitution C T missense_variant R1661H 4982G>A STAD-US 1 55563749 55563749 single base substitution C T missense_variant R1821H 5462G>A STAD-US 1 55563749 55563749 single base substitution C T upstream_gene_variant STAD-US 1 55566627 55566627 single base substitution G A missense_variant S1559L 4676C>T STAD-US 1 55566627 55566627 single base substitution G A missense_variant S1719L 5156C>T STAD-US 1 55591012 55591012 single base substitution G A missense_variant A1154V 3461C>T STAD-US 1 55591012 55591012 single base substitution G A missense_variant A1314V 3941C>T STAD-US 1 55604663 55604663 single base substitution A C missense_variant I764S 2291T>G STAD-US 1 55604663 55604663 single base substitution A C missense_variant I924S 2771T>G STAD-US 1 55613380 55613380 single base substitution G A missense_variant A527V 1580C>T STAD-US 1 55613380 55613380 single base substitution G A missense_variant A687V 2060C>T STAD-US 1 55619860 55619860 single base substitution C A missense_variant D438Y 1312G>T STAD-US 1 55619860 55619860 single base substitution C A missense_variant D582Y 1744G>T STAD-US 1 55624619 55624619 single base substitution G A stop_gained R275* 823C>T STAD-US 1 55624619 55624619 single base substitution G A stop_gained R387* 1159C>T STAD-US 1 55624658 55624658 single base substitution G A missense_variant R262C 784C>T STAD-US 1 55624658 55624658 single base substitution G A missense_variant R374C 1120C>T STAD-US 1 55627910 55627910 single base substitution C G missense_variant G207R 619G>C STAD-US 1 55627910 55627910 single base substitution C G missense_variant G319R 955G>C THCA-SA 1 55529332 55529332 single base substitution C T downstream_gene_variant THCA-SA 1 55529602 55529602 single base substitution C T downstream_gene_variant THCA-SA 1 55529671 55529671 single base substitution C T downstream_gene_variant THCA-SA 1 55529871 55529871 single base substitution C T downstream_gene_variant THCA-SA 1 55533811 55533811 single base substitution T C 3_prime_UTR_variant THCA-SA 1 55533811 55533811 single base substitution T C downstream_gene_variant THCA-SA 1 55548991 55548991 single base substitution C T downstream_gene_variant THCA-SA 1 55548991 55548991 single base substitution C T exon_variant THCA-SA 1 55548991 55548991 single base substitution C T missense_variant R2150Q 6449G>A THCA-SA 1 55548991 55548991 single base substitution C T missense_variant R2310Q 6929G>A UCEC-US 1 55527158 55527158 single base substitution G A downstream_gene_variant UCEC-US 1 55544309 55544309 single base substitution G A downstream_gene_variant UCEC-US 1 55544309 55544309 single base substitution G A missense_variant R2246W 6736C>T UCEC-US 1 55544309 55544309 single base substitution G A missense_variant R2406W 7216C>T UCEC-US 1 55544309 55544309 single base substitution G A upstream_gene_variant UCEC-US 1 55545262 55545262 single base substitution C T downstream_gene_variant UCEC-US 1 55545262 55545262 single base substitution C T synonymous_variant E2223E 6669G>A UCEC-US 1 55545262 55545262 single base substitution C T synonymous_variant E2383E 7149G>A UCEC-US 1 55545262 55545262 single base substitution C T upstream_gene_variant UCEC-US 1 55557771 55557771 single base substitution C T downstream_gene_variant UCEC-US 1 55557771 55557771 single base substitution C T missense_variant C2000Y 5999G>A UCEC-US 1 55557771 55557771 single base substitution C T missense_variant C2160Y 6479G>A UCEC-US 1 55557779 55557779 single base substitution A C downstream_gene_variant UCEC-US 1 55557779 55557779 single base substitution A C stop_gained Y1997* 5991T>G UCEC-US 1 55557779 55557779 single base substitution A C stop_gained Y2157* 6471T>G UCEC-US 1 55560928 55560929 deletion of <=200bp AG - frameshift_variant L1908 UCEC-US 1 55560928 55560929 deletion of <=200bp AG - frameshift_variant L2068 UCEC-US 1 55560928 55560929 deletion of <=200bp AG - splice_region_variant UCEC-US 1 55560963 55560963 single base substitution G A exon_variant UCEC-US 1 55560963 55560963 single base substitution G A synonymous_variant V1896V 5688C>T UCEC-US 1 55560963 55560963 single base substitution G A synonymous_variant V2056V 6168C>T UCEC-US 1 55560968 55560968 single base substitution G A exon_variant UCEC-US 1 55560968 55560968 single base substitution G A stop_gained R1895* 5683C>T UCEC-US 1 55560968 55560968 single base substitution G A stop_gained R2055* 6163C>T UCEC-US 1 55562744 55562744 single base substitution G A synonymous_variant G1779G 5337C>T UCEC-US 1 55562744 55562744 single base substitution G A synonymous_variant G1939G 5817C>T UCEC-US 1 55562744 55562744 single base substitution G A upstream_gene_variant UCEC-US 1 55563319 55563319 single base substitution C T synonymous_variant G1729G 5187G>A UCEC-US 1 55563319 55563319 single base substitution C T synonymous_variant G1889G 5667G>A UCEC-US 1 55563319 55563319 single base substitution C T upstream_gene_variant UCEC-US 1 55563339 55563339 single base substitution T C missense_variant I1723V 5167A>G UCEC-US 1 55563339 55563339 single base substitution T C missense_variant I1883V 5647A>G UCEC-US 1 55563339 55563339 single base substitution T C upstream_gene_variant UCEC-US 1 55563666 55563668 deletion of <=200bp CTC - disruptive_inframe_deletion GE1688E UCEC-US 1 55563666 55563668 deletion of <=200bp CTC - disruptive_inframe_deletion GE1848E UCEC-US 1 55563666 55563668 deletion of <=200bp CTC - upstream_gene_variant UCEC-US 1 55563710 55563710 single base substitution G T missense_variant S1674Y 5021C>A UCEC-US 1 55563710 55563710 single base substitution G T missense_variant S1834Y 5501C>A UCEC-US 1 55563710 55563710 single base substitution G T upstream_gene_variant UCEC-US 1 55564204 55564204 single base substitution T A missense_variant N1640Y 4918A>T UCEC-US 1 55564204 55564204 single base substitution T A missense_variant N1800Y 5398A>T UCEC-US 1 55564204 55564204 single base substitution T A upstream_gene_variant UCEC-US 1 55565540 55565540 single base substitution A C missense_variant I1598M 4794T>G UCEC-US 1 55565540 55565540 single base substitution A C missense_variant I1758M 5274T>G UCEC-US 1 55565540 55565540 single base substitution A C upstream_gene_variant UCEC-US 1 55569640 55569640 single base substitution G T missense_variant A1485D 4454C>A UCEC-US 1 55569640 55569640 single base substitution G T missense_variant A1645D 4934C>A UCEC-US 1 55589185 55589185 single base substitution G A missense_variant S1244L 3731C>T UCEC-US 1 55589185 55589185 single base substitution G A missense_variant S1404L 4211C>T UCEC-US 1 55589213 55589213 single base substitution G A stop_gained R1235* 3703C>T UCEC-US 1 55589213 55589213 single base substitution G A stop_gained R1395* 4183C>T UCEC-US 1 55590163 55590163 single base substitution G A stop_gained R1207* 3619C>T UCEC-US 1 55590163 55590163 single base substitution G A stop_gained R1367* 4099C>T UCEC-US 1 55590188 55590188 single base substitution A G synonymous_variant S1198S 3594T>C UCEC-US 1 55590188 55590188 single base substitution A G synonymous_variant S1358S 4074T>C UCEC-US 1 55591133 55591133 single base substitution G A stop_gained R1114* 3340C>T UCEC-US 1 55591133 55591133 single base substitution G A stop_gained R1274* 3820C>T UCEC-US 1 55591192 55591192 single base substitution G A missense_variant T1094M 3281C>T UCEC-US 1 55591192 55591192 single base substitution G A missense_variant T1254M 3761C>T UCEC-US 1 55599756 55599756 single base substitution G T missense_variant S1123Y 3368C>A UCEC-US 1 55599756 55599756 single base substitution G T missense_variant S963Y 2888C>A UCEC-US 1 55599820 55599820 single base substitution G A missense_variant R1102W 3304C>T UCEC-US 1 55599820 55599820 single base substitution G A missense_variant R942W 2824C>T UCEC-US 1 55603256 55603256 single base substitution C A missense_variant A1045S 3133G>T UCEC-US 1 55603256 55603256 single base substitution C A missense_variant A885S 2653G>T UCEC-US 1 55607379 55607379 single base substitution G A missense_variant P727L 2180C>T UCEC-US 1 55607379 55607379 single base substitution G A missense_variant P887L 2660C>T UCEC-US 1 55608719 55608719 single base substitution A C missense_variant I678S 2033T>G UCEC-US 1 55608719 55608719 single base substitution A C missense_variant I838S 2513T>G UCEC-US 1 55612661 55612661 single base substitution C T missense_variant A571T 1711G>A UCEC-US 1 55612661 55612661 single base substitution C T missense_variant A731T 2191G>A UCEC-US 1 55614225 55614225 single base substitution G T missense_variant P467T 1399C>A UCEC-US 1 55614225 55614225 single base substitution G T missense_variant P627T 1879C>A UCEC-US 1 55619923 55619923 single base substitution G T missense_variant L417I 1249C>A UCEC-US 1 55619923 55619923 single base substitution G T missense_variant L561I 1681C>A UCEC-US 1 55623007 55623007 single base substitution A G missense_variant S310P 928T>C UCEC-US 1 55623007 55623007 single base substitution A G missense_variant S422P 1264T>C UCEC-US 1 55625357 55625357 single base substitution G T missense_variant P220H 659C>A UCEC-US 1 55625357 55625357 single base substitution G T missense_variant P332H 995C>A UCEC-US 1 55627938 55627938 single base substitution C A splice_acceptor_variant UCEC-US 1 55637241 55637241 single base substitution C T synonymous_variant S159S 477G>A UCEC-US 1 55637241 55637241 single base substitution C T synonymous_variant S271S 813G>A UCEC-US 1 55638130 55638130 single base substitution A G synonymous_variant L208L 622T>C UCEC-US 1 55638130 55638130 single base substitution A G synonymous_variant L96L 286T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-B8-4622-01 COSM3360964 c.6589A>C p.N2197H Substitution - Missense 1:55083816-55083816 - CSB3 COSM5025284 c.2975T>A p.V992E Substitution - Missense 1:55134391-55134391 - PCSI_0056_Pa_X COSM3377241 c.2788A>T p.N930Y Substitution - Missense 1:55137679-55137679 - TCGA-EE-A2GC-06 COSM3491059 c.5981C>T p.S1994L Substitution - Missense 1:55094061-55094061 - TCGA-BP-4340-01 COSM3361620 c.6976A>G p.I2326V Substitution - Missense 1:55081424-55081424 - T2284 COSM4739727 c.1065_1066delCA p.D355fs*5 Deletion - Frameshift 1:55159613-55159614 - 587378 COSM1232006 c.1525C>T p.R509W Substitution - Missense 1:55154403-55154403 - ICGC_MB92 COSM3764201 c.2343T>C p.S781S Substitution - coding silent 1:55142784-55142784 - T3021 COSM4739724 c.4990C>T p.L1664L Substitution - coding silent 1:55100871-55100871 - S01542 COSM5669474 c.194A>C p.D65A Substitution - Missense 1:55214827-55214827 - TCGA-66-2763-01 COSM681692 c.5185G>A p.D1729N Substitution - Missense 1:55100925-55100925 - TCGA-CZ-5451-01 COSM464796 c.1706A>C p.E569A Substitution - Missense 1:55154132-55154132 - TCGA-BR-8382-01 COSM4009019 c.6271C>T p.R2091W Substitution - Missense 1:55094020-55094020 - TCGA-B8-4622-01 COSM3360963 c.6838A>C p.N2280H Substitution - Missense 1:55083816-55083816 - TCGA-B5-A0JY-01 COSM911012 c.5252C>A p.S1751Y Substitution - Missense 1:55098037-55098037 - TCGA-34-5929-01 COSM681684 c.2509G>T p.E837* Substitution - Nonsense 1:55143050-55143050 - TCGA-AA-3510-01 COSM264600 c.4351C>T p.R1451C Substitution - Missense 1:55120753-55120753 - PD2147a COSM27007 c.6231C>A p.C2077* Substitution - Nonsense 1:55092097-55092097 - TCGA-AP-A0LP-01 COSM910998 c.5919C>T p.V1973V Substitution - coding silent 1:55095290-55095290 - C0052T COSM4165258 c.1406A>T p.K469I Substitution - Missense 1:55156988-55156988 - TCGA-AD-6964-01 COSM1343577 c.5192A>G p.D1731G Substitution - Missense 1:55098488-55098488 - C0060T COSM4165257 c.5742T>A p.F1914L Substitution - Missense 1:55096568-55096568 - HCC2998 COSM2194376 c.6504T>G p.F2168L Substitution - Missense 1:55085954-55085954 - TCGA-46-3765-01 COSM681691 c.4462C>T p.R1488C Substitution - Missense 1:55107290-55107290 - TCGA-AA-3663-01 COSM1343573 c.5756A>G p.E1919G Substitution - Missense 1:55096554-55096554 - PT27 COSM5905455 c.1846G>A p.D616N Substitution - Missense 1:55147672-55147672 - TCGA-OL-A66I-01 COSM2194555 c.1683G>A p.R561R Substitution - coding silent 1:55154155-55154155 - TCGA-AX-A063-01 COSM910990 c.6900G>A p.E2300E Substitution - coding silent 1:55079589-55079589 - TCGA-BR-8680-01 COSM2194574 c.1120C>T p.R374C Substitution - Missense 1:55158985-55158985 - TCGA-AP-A0LP-01 COSM911008 c.5398A>G p.I1800V Substitution - Missense 1:55097666-55097666 - TCGA-ED-A4XI-01 COSM4913319 c.1058A>G p.D353G Substitution - Missense 1:55158954-55158954 - sysucc-1370T COSM5470368 c.5686C>T p.R1896* Substitution - Nonsense 1:55096953-55096953 - C086 COSM5541475 c.4031C>T p.S1344F Substitution - Missense 1:55121503-55121503 - PD24322a COSM5784826 c.5516G>A p.R1839H Substitution - Missense 1:55097123-55097123 - CSCC-16-T COSM4501170 c.5579C>T p.S1860F Substitution - Missense 1:55097060-55097060 - PT36 COSM5914829 c.4654C>T p.R1552C Substitution - Missense 1:55107347-55107347 - RK155_C01 COSM3700760 c.3581C>T p.A1194V Substitution - Missense 1:55129531-55129531 - TCGA-AD-6964-01 COSM1343576 c.5441A>G p.D1814G Substitution - Missense 1:55098488-55098488 - TCGA-IR-A3LK-01 COSM4817577 c.4452C>T p.L1484L Substitution - coding silent 1:55120652-55120652 - TCGA-HU-A4GQ-01 COSM4009034 c.1811C>T p.A604V Substitution - Missense 1:55147707-55147707 - 2113177 COSM4167384 c.6571G>A p.V2191I Substitution - Missense 1:55083834-55083834 - pfg160T COSM4755654 c.5799A>C p.K1933N Substitution - Missense 1:55096511-55096511 - TCGA-FS-A1ZS-06 COSM3491062 c.4385G>A p.S1462N Substitution - Missense 1:55120719-55120719 - ESCC-F32 COSM5047494 c.1940G>A p.R647H Substitution - Missense 1:55146990-55146990 - TCGA-A6-6653-01 COSM1343605 c.1649A>T p.K550M Substitution - Missense 1:55154372-55154372 - TCGA-D5-6540-01 COSM1343578 c.5197delT p.Y1733fs*10 Deletion - Frameshift 1:55100913-55100913 - CSCC-31-T COSM4507741 c.7551C>T p.F2517F Substitution - coding silent 1:55072837-55072837 - TCGA-HU-A4GQ-01 COSM4009023 c.5792A>G p.E1931G Substitution - Missense 1:55097096-55097096 - LN18 COSM2194526 c.2429G>T p.G810V Substitution - Missense 1:55144137-55144137 - 587342 COSM264599 c.4102C>T p.R1368C Substitution - Missense 1:55120753-55120753 - ESO-153 COSM1270062 c.1811G>A p.R604K Substitution - Missense 1:55154120-55154120 - TCGA-34-5240-01 COSM681686 c.2994G>T p.V998V Substitution - coding silent 1:55137839-55137839 - ESO-1608 COSM1270065 c.7589G>A p.S2530N Substitution - Missense 1:55069070-55069070 - PCSI_0072_Pa_P_526 COSM3786249 c.5283A>G p.Q1761Q Substitution - coding silent 1:55098006-55098006 - C086 COSM5541474 c.4280C>T p.S1427F Substitution - Missense 1:55121503-55121503 - TCGA-AP-A059-01 COSM911020 c.4685C>A p.A1562D Substitution - Missense 1:55103967-55103967 - ESO-153 COSM1270063 c.1718G>A p.R573K Substitution - Missense 1:55154120-55154120 - T613 COSM4739718 c.7374A>G p.T2458T Substitution - coding silent 1:55072383-55072383 - TCGA-AA-3819-01 COSM294072 c.5688C>G p.R1896R Substitution - coding silent 1:55097625-55097625 - Patient_5 COSM5414523 c.3497G>A p.G1166E Substitution - Missense 1:55125534-55125534 - HCC120T COSM3705940 c.6714G>A p.V2238V Substitution - coding silent 1:55085993-55085993 - HCC121T COSM1602572 c.2566C>A p.P856T Substitution - Missense 1:55142993-55142993 - TCGA-G2-A2EC-01 COSM1296603 c.667C>G p.P223A Substitution - Missense 1:55172412-55172412 - CSCC-27-T COSM4456179 c.5008_5009CT>TC p.L1670S Substitution - Missense 1:55103892-55103893 - PD4939a COSM166267 c.6668+3_6668+6delAAGT p.? Unknown 1:55089621-55089624 - HCC125T COSM5822620 c.3171A>G p.K1057K Substitution - coding silent 1:55132662-55132662 - Pat_45_A COSM5847029 c.4784C>T p.P1595L Substitution - Missense 1:55101696-55101696 - CLL136 COSM1290216 c.2050G>A p.V684I Substitution - Missense 1:55146061-55146061 - GB11 COSM1744709 c.4256A>C p.Q1419P Substitution - Missense 1:55123467-55123467 - 7b COSM4657780 c.4311C>T p.F1437F Substitution - coding silent 1:55121472-55121472 - TCGA-ES-A2HS-01 COSM4910539 c.7694C>A p.T2565K Substitution - Missense 1:55071920-55071920 - TCGA-EE-A2ML-06 COSM3491054 c.7121C>T p.P2374L Substitution - Missense 1:55079617-55079617 - 01-P8014 COSM4577462 c.7791T>A p.H2597Q Substitution - Missense 1:55071823-55071823 - TCGA-AF-3914-01 COSM5065521 c.1339G>A p.E447K Substitution - Missense 1:55157259-55157259 - 8665_PT COSM4239844 c.1834G>A p.E612K Substitution - Missense 1:55153896-55153896 - TCGA-BS-A0UF-01 COSM911041 c.2191G>A p.A731T Substitution - Missense 1:55146988-55146988 - TCGA-BK-A0C9-01 COSM911026 c.3825T>C p.S1275S Substitution - coding silent 1:55124515-55124515 - TCGA-FP-A4BE-01 COSM4009032 c.2522T>G p.I841S Substitution - Missense 1:55138990-55138990 - TCGA-CZ-5451-01 COSM464795 c.1799A>C p.E600A Substitution - Missense 1:55154132-55154132 - C086 COSM5541472 c.3896C>T p.S1299F Substitution - Missense 1:55125384-55125384 - YUHAM COSM5381282 c.5208T>C p.Y1736Y Substitution - coding silent 1:55098081-55098081 - YURAY COSM3491055 c.6872C>T p.P2291L Substitution - Missense 1:55079617-55079617 - 1_PRE-TREATMENT COSM1720941 c.3209_3210CC>TT p.S1070F Substitution - Missense 1:55134405-55134406 - HCC74T COSM1602574 c.2404T>G p.C802G Substitution - Missense 1:55144162-55144162 - 46M COSM5589323 c.2617C>A p.H873N Substitution - Missense 1:55138670-55138670 - T578 COSM4739719 c.7270T>G p.F2424V Substitution - Missense 1:55078582-55078582 - YUDEGAS COSM5413344 c.663A>G p.Q221Q Substitution - coding silent 1:55171625-55171625 - TCGA-34-5240-01 COSM681696 c.6704G>A p.R2235Q Substitution - Missense 1:55086003-55086003 - 01-P8014 COSM4577463 c.7542T>A p.H2514Q Substitution - Missense 1:55071823-55071823 - ICC010T COSM5813959 c.3661G>A p.D1221N Substitution - Missense 1:55125733-55125733 - TCGA-AA-A010-01 COSM286386 c.7504T>C p.S2502P Substitution - Missense 1:55071861-55071861 - TCGA-AZ-6598-01 COSM1343583 c.3773C>T p.A1258V Substitution - Missense 1:55124567-55124567 - YURAY COSM5381283 c.5307A>C p.R1769S Substitution - Missense 1:55099834-55099834 - I2L-P7-Tumor-Organoid COSM5353595 c.2834C>T p.P945L Substitution - Missense 1:55138702-55138702 - ESCC_108 COSM5638589 c.1665C>G p.L555L Substitution - coding silent 1:55154266-55154266 - KYSE510 COSM2194409 c.5936G>A p.R1979Q Substitution - Missense 1:55096952-55096952 - PTC-1C COSM4144104 c.178+8C>T p.? Unknown 1:55214928-55214928 - TCGA-D1-A15X-01 COSM911038 c.2411C>T p.P804L Substitution - Missense 1:55141706-55141706 - TCGA-CW-5591-01 COSM464800 c.591C>T p.L197L Substitution - coding silent 1:55172395-55172395 - 2_RESISTANT COSM1722927 c.5180C>T p.P1727L Substitution - Missense 1:55100930-55100930 - CHC1708T COSM4952420 c.6260C>T p.P2087L Substitution - Missense 1:55094031-55094031 - Pat_05_B COSM5847032 c.3334C>T p.P1112S Substitution - Missense 1:55134117-55134117 - KYSE510 COSM2194410 c.5687G>A p.R1896Q Substitution - Missense 1:55096952-55096952 - 2113177 COSM4167383 c.6820G>A p.V2274I Substitution - Missense 1:55083834-55083834 - TCGA-DD-A1EF-01 COSM4915613 c.4333G>A p.E1445K Substitution - Missense 1:55107419-55107419 - PT36 COSM5914830 c.4405C>T p.R1469C Substitution - Missense 1:55107347-55107347 - DN14014 COSM5961004 c.5280G>A p.K1760K Substitution - coding silent 1:55099861-55099861 - PT49 COSM5934460 c.1880C>T p.P627L Substitution - Missense 1:55148551-55148551 - TCGA-AP-A0LP-01 COSM910997 c.6168C>T p.V2056V Substitution - coding silent 1:55095290-55095290 - AOCS-056-1-X COSM3944190 c.3225A>G p.L1075L Substitution - coding silent 1:55132608-55132608 - TCGA-AP-A059-01 COSM910991 c.6479G>A p.C2160Y Substitution - Missense 1:55092098-55092098 - CSCC-60-T COSM4506216 c.620C>T p.P207L Substitution - Missense 1:55171668-55171668 - Pat_70_A COSM5847034 c.1518_1519insTTCA p.D507fs*5 Insertion - Frameshift 1:55154706-55154707 - P07-144 COSM248237 c.3922G>C p.G1308R Substitution - Missense 1:55123552-55123552 - T3064 COSM4739721 c.5883A>G p.V1961V Substitution - coding silent 1:55097005-55097005 - 1_RESISTANT COSM1720944 c.710C>T p.S237L Substitution - Missense 1:55171578-55171578 - PD3600a COSM30314 c.7506G>T p.S2502S Substitution - coding silent 1:55071859-55071859 - HCC120T COSM3705941 c.6465G>A p.V2155V Substitution - coding silent 1:55085993-55085993 - TCGA-A4-7996-01 COSM3985157 c.1926T>C p.Y642Y Substitution - coding silent 1:55147004-55147004 - 19685 COSM5346297 c.976-1G>T p.? Unknown 1:55159037-55159037 - TCGA-AA-3819-01 COSM294071 c.5439C>G p.R1813R Substitution - coding silent 1:55097625-55097625 - TCGA-56-6546-01 COSM681682 c.1458A>T p.S486S Substitution - coding silent 1:55154767-55154767 - ME001T COSM192065 c.2711C>T p.A904V Substitution - Missense 1:55141655-55141655 - TCGA-AA-A00N-01 COSM278033 c.1272C>A p.Y424* Substitution - Nonsense 1:55157029-55157029 - HCC121 COSM1602573 c.2317C>A p.P773T Substitution - Missense 1:55142993-55142993 - ESCC_BICR_027T COSM5443194 c.1743G>C p.K581N Substitution - Missense 1:55147775-55147775 - TCGA-D5-6930-01 COSM1343592 c.3099G>A p.K1033K Substitution - coding silent 1:55137617-55137617 - TCGA-AA-3510-01 COSM264599 c.4102C>T p.R1368C Substitution - Missense 1:55120753-55120753 - 1_RESISTANT COSM1720942 c.2960_2961CC>TT p.S987F Substitution - Missense 1:55134405-55134406 - TCGA-A5-A0VP-01 COSM911048 c.995C>A p.P332H Substitution - Missense 1:55159684-55159684 - BD171T COSM5494723 c.2885C>G p.A962G Substitution - Missense 1:55137582-55137582 - PD4939a COSM166266 c.6419+3_6419+6delAAGT p.? Unknown 1:55089621-55089624 - 19 COSM5745646 c.5808T>A p.D1936E Substitution - Missense 1:55096502-55096502 - TCGA-10-0930-01 COSM4946698 c.7261T>C p.Y2421H Substitution - Missense 1:55078591-55078591 - HCT15 COSM2194400 c.5782G>T p.G1928* Substitution - Nonsense 1:55096528-55096528 - TCGA-AX-A0J1-01 COSM911036 c.2884G>T p.A962S Substitution - Missense 1:55137583-55137583 - PD3353a COSM30316 c.5867A>G p.Y1956C Substitution - Missense 1:55095342-55095342 - TCGA-AA-A00N-01 COSM278032 c.4099C>T p.R1367* Substitution - Nonsense 1:55124490-55124490 - LS411 COSM2194596 c.351A>G p.S117S Substitution - coding silent 1:55178106-55178106 - TCGA-AP-A0LM-01 COSM911004 c.5568C>T p.G1856G Substitution - coding silent 1:55097071-55097071 - GHE0536 COSM5713812 c.2399A>C p.N800T Substitution - Missense 1:55144167-55144167 - sysucc-882T COSM5447154 c.5764G>A p.E1922K Substitution - Missense 1:55096546-55096546 - TCGA-GM-A3XL-01 COSM3805628 c.3999G>A p.T1333T Substitution - coding silent 1:55123475-55123475 - TCGA-FW-A3R5-06 COSM3865855 c.4443C>T p.I1481I Substitution - coding silent 1:55107309-55107309 - SNU-C2B COSM2194410 c.5687G>A p.R1896Q Substitution - Missense 1:55096952-55096952 - 1_RESISTANT COSM1720941 c.3209_3210CC>TT p.S1070F Substitution - Missense 1:55134405-55134406 - ESCC-F120 COSM5047062 c.6306-1G>A p.? Unknown 1:55089741-55089741 - CSCC-55-T COSM4499529 c.5200C>T p.H1734Y Substitution - Missense 1:55098480-55098480 - TCGA-Q1-A73O-01 COSM4835378 c.53C>G p.S18* Substitution - Nonsense 1:55215061-55215061 - PAPZNK COSM5005362 c.3813A>T p.P1271P Substitution - coding silent 1:55124527-55124527 - ESCC-D16 COSM5045553 c.3439G>C p.E1147Q Substitution - Missense 1:55125706-55125706 - Pat_59_B COSM5847027 c.5680G>A p.D1894N Substitution - Missense 1:55096959-55096959 - ESCC_78 COSM4489080 c.3429C>T p.S1143S Substitution - coding silent 1:55132653-55132653 - HT115 COSM2194380 c.6424T>G p.F2142V Substitution - Missense 1:55086034-55086034 - HCC74 COSM1602574 c.2404T>G p.C802G Substitution - Missense 1:55144162-55144162 - 2521249 COSM5887656 c.4012C>T p.R1338W Substitution - Missense 1:55123462-55123462 - TCGA-AB-2811-03 COSM1317520 c.1554+2T>C p.? Unknown 1:55154669-55154669 - TCGA-G2-A2EO-01 COSM1296602 c.3319G>A p.D1107N Substitution - Missense 1:55129544-55129544 - TCGA-AP-A0LM-01 COSM911034 c.3055C>T p.R1019W Substitution - Missense 1:55134147-55134147 - TCGA-DD-A1EF-01 COSM4915612 c.4582G>A p.E1528K Substitution - Missense 1:55107419-55107419 - YUOTHO COSM5381285 c.3327C>T p.P1109P Substitution - coding silent 1:55134124-55134124 - HCC120T COSM3705939 c.6466G>T p.A2156S Substitution - Missense 1:55085992-55085992 - 479 COSM4439035 c.3016A>T p.N1006Y Substitution - Missense 1:55137817-55137817 - TCGA-BR-A453-01 COSM4009036 c.1651G>T p.D551Y Substitution - Missense 1:55154187-55154187 - TCGA-GF-A6C9-06 COSM4899527 c.7105C>T p.P2369S Substitution - Missense 1:55079633-55079633 - CLL136 COSM1290215 c.2299G>A p.V767I Substitution - Missense 1:55146061-55146061 - 8016470 COSM3386252 c.1910G>A p.R637H Substitution - Missense 1:55148521-55148521 - ESCC_133 COSM5642443 c.1236G>A p.S412S Substitution - coding silent 1:55157269-55157269 - TCGA-BS-A0UV-01 COSM278031 c.3850C>T p.R1284* Substitution - Nonsense 1:55124490-55124490 - TCGA-13-1501-01 COSM73225 c.3631T>A p.S1211T Substitution - Missense 1:55125400-55125400 - 9642_PT COSM5754477 c.3832C>T p.R1278W Substitution - Missense 1:55125448-55125448 - PCSI_0083_Pa_P_526 COSM3377239 c.7384A>G p.N2462D Substitution - Missense 1:55072373-55072373 - ESO-610 COSM1270060 c.6881delA p.K2294fs*11 Deletion - Frameshift 1:55083773-55083773 - CSCC-47-T COSM4554121 c.6122G>A p.R2041K Substitution - Missense 1:55095336-55095336 - CHC1746T COSM4788031 c.1067A>C p.K356T Substitution - Missense 1:55159612-55159612 - LUAD-CHTN-MAD04-00674 COSM357796 c.45G>A p.M15I Substitution - Missense 1:55215069-55215069 - TCGA-66-2765-01 COSM681698 c.7146T>C p.H2382H Substitution - coding silent 1:55079592-55079592 - TCGA-LP-A5U2-01 COSM4833694 c.1178G>A p.R393H Substitution - Missense 1:55158927-55158927 - TCGA-A4-7996-01 COSM3985156 c.2175T>C p.Y725Y Substitution - coding silent 1:55147004-55147004 - Au5 COSM5606181 c.4537T>C p.L1513L Substitution - coding silent 1:55106240-55106240 - CSCC-16-T COSM4549526 c.4758G>T p.M1586I Substitution - Missense 1:55107243-55107243 - CSCC-19-T COSM4501211 c.5582C>T p.P1861L Substitution - Missense 1:55097057-55097057 - YUWIA COSM5381280 c.5280C>T p.D1760D Substitution - coding silent 1:55098009-55098009 - TCGA-BS-A0UF-01 COSM911015 c.5274T>G p.I1758M Substitution - Missense 1:55099867-55099867 - HCC2998 COSM2194545 c.1743G>T p.K581N Substitution - Missense 1:55147775-55147775 - Pat_41_B COSM5847025 c.5816A>C p.N1939T Substitution - Missense 1:55095393-55095393 - TCGA-A6-6781-01 COSM1343598 c.2710C>T p.R904W Substitution - Missense 1:55137874-55137874 - 2_PRE-TREATMENT COSM1722927 c.5180C>T p.P1727L Substitution - Missense 1:55100930-55100930 - Au3 COSM5602579 c.6581C>T p.T2194I Substitution - Missense 1:55089714-55089714 - ZZUFHECRKL-G012T COSM5435311 c.2372A>T p.Y791F Substitution - Missense 1:55142755-55142755 - Pat_70_B COSM5847034 c.1518_1519insTTCA p.D507fs*5 Insertion - Frameshift 1:55154706-55154707 - TCGA-33-6737-01 COSM681700 c.7211C>G p.A2404G Substitution - Missense 1:55078641-55078641 - TCGA-IR-A3LI-01 COSM4846421 c.7522C>T p.Q2508* Substitution - Nonsense 1:55073832-55073832 - TCGA-AX-A063-01 COSM910989 c.7149G>A p.E2383E Substitution - coding silent 1:55079589-55079589 - HN_62897 COSM128448 c.6258T>C p.A2086A Substitution - coding silent 1:55092070-55092070 - ZZUFHECRKL-G012T COSM5435310 c.2621A>T p.Y874F Substitution - Missense 1:55142755-55142755 - CSCC-60-T COSM4450643 c.7198+2C>T p.? Unknown 1:55075455-55075455 - YUHAM COSM5381281 c.5457T>C p.Y1819Y Substitution - coding silent 1:55098081-55098081 - PCSI_0083_Pa_X COSM3377238 c.7633A>G p.N2545D Substitution - Missense 1:55072373-55072373 - 1_PRE-TREATMENT COSM1720943 c.803C>T p.S268L Substitution - Missense 1:55171578-55171578 - sysucc-1163T COSM5458508 c.3638G>A p.R1213Q Substitution - Missense 1:55125393-55125393 - TCGA-BR-7716-01 COSM4009027 c.5156C>T p.S1719L Substitution - Missense 1:55100954-55100954 - PD24308a COSM5784807 c.4690A>T p.S1564C Substitution - Missense 1:55103962-55103962 - T3094 COSM4739725 c.2514_2515insT p.A839fs*2 Insertion - Frameshift 1:55143044-55143045 - LC_S18 COSM1190685 c.2754_2755delAC p.Q919fs*5 Deletion - Frameshift 1:55137829-55137830 - 587378 COSM1232005 c.1618C>T p.R540W Substitution - Missense 1:55154403-55154403 - 6948_PT COSM5754475 c.7240G>A p.A2414T Substitution - Missense 1:55078612-55078612 - LC_S18 COSM1190684 c.3003_3004delAC p.Q1002fs*5 Deletion - Frameshift 1:55137829-55137830 - TCGA-OL-A66I-01 COSM2194554 c.1776G>A p.R592R Substitution - coding silent 1:55154155-55154155 - PCSI_0083_Pa_X COSM3377242 c.3027+3A>G p.? Unknown 1:55137803-55137803 - CSCC-60-T COSM4450642 c.7447+2C>T p.? Unknown 1:55075455-55075455 - 7b COSM4657781 c.4062C>T p.F1354F Substitution - coding silent 1:55121472-55121472 - BCN26 COSM4172170 c.3058C>T p.H1020Y Substitution - Missense 1:55137658-55137658 - PCSI_0072_Pa_X COSM3786248 c.5532A>G p.Q1844Q Substitution - coding silent 1:55098006-55098006 - TCGA-66-2765-01 COSM681699 c.6897T>C p.H2299H Substitution - coding silent 1:55079592-55079592 - TCGA-66-2763-01 COSM681693 c.4936G>A p.D1646N Substitution - Missense 1:55100925-55100925 - RK308_C01 COSM3741322 c.3944C>T p.A1315V Substitution - Missense 1:55125336-55125336 - YUSCA COSM5381287 c.764G>A p.W255* Substitution - Nonsense 1:55171617-55171617 - YUWIA COSM5381279 c.5529C>T p.D1843D Substitution - coding silent 1:55098009-55098009 - TCGA-AX-A1C8-01 COSM911017 c.4943C>T p.S1648L Substitution - Missense 1:55103958-55103958 - TCGA-BG-A0VZ-01 COSM911030 c.3512C>T p.T1171M Substitution - Missense 1:55125519-55125519 - HCC138T COSM5819039 c.3297A>G p.L1099L Substitution - coding silent 1:55134154-55134154 - PT33 COSM5908047 c.3289-6C>T p.? Unknown 1:55129580-55129580 - ESCC-F63 COSM1343566 c.7262A>G p.Y2421C Substitution - Missense 1:55078590-55078590 - TCGA-G2-A2EC-01 COSM1296604 c.574C>G p.P192A Substitution - Missense 1:55172412-55172412 - CHC1708T COSM4952421 c.6011C>T p.P2004L Substitution - Missense 1:55094031-55094031 - TCGA-BS-A0UV-01 COSM911022 c.3962C>T p.S1321L Substitution - Missense 1:55123512-55123512 - 74 COSM4777907 c.5666G>T p.G1889V Substitution - Missense 1:55097647-55097647 - HCC138T COSM5819040 c.3048A>G p.L1016L Substitution - coding silent 1:55134154-55134154 - TCGA-B5-A11E-01 COSM911047 c.1171T>C p.S391P Substitution - Missense 1:55157334-55157334 - TCGA-BP-4340-01 COSM3361621 c.6727A>G p.I2243V Substitution - Missense 1:55081424-55081424 - CSCC-27-T COSM4456180 c.4759_4760CT>TC p.L1587S Substitution - Missense 1:55103892-55103893 - pfg057T COSM4755667 c.506T>A p.I169N Substitution - Missense 1:55172480-55172480 - Patient_5 COSM5414522 c.3746G>A p.G1249E Substitution - Missense 1:55125534-55125534 - TCGA-CG-4442-01 COSM2194575 c.1027C>T p.R343C Substitution - Missense 1:55158985-55158985 - PD3397a COSM30315 c.3260C>T p.S1087F Substitution - Missense 1:55132573-55132573 - TCGA-B5-A0JY-01 COSM911011 c.5501C>A p.S1834Y Substitution - Missense 1:55098037-55098037 - ESCC-F32 COSM5047493 c.2189G>A p.R730H Substitution - Missense 1:55146990-55146990 - sysucc-1317T COSM5447958 c.1714A>G p.K572E Substitution - Missense 1:55154124-55154124 - TCGA-AP-A059-01 COSM911019 c.4934C>A p.A1645D Substitution - Missense 1:55103967-55103967 - HT115 COSM2194435 c.5291A>C p.K1764T Substitution - Missense 1:55099850-55099850 - HCC120 COSM3705940 c.6714G>A p.V2238V Substitution - coding silent 1:55085993-55085993 - PD23562a COSM5802246 c.3594_3627del34 p.K1199fs*2 Deletion - Frameshift 1:55129485-55129518 - PDA_071 COSM5001761 c.7438G>T p.G2480* Substitution - Nonsense 1:55075466-55075466 - TCGA-AP-A051-01 COSM911055 c.529T>C p.L177L Substitution - coding silent 1:55172457-55172457 - CSCC-31-T COSM4489081 c.3180C>T p.S1060S Substitution - coding silent 1:55132653-55132653 - PDA_071 COSM5001762 c.7189G>T p.G2397* Substitution - Nonsense 1:55075466-55075466 - TCGA-AG-A002-01 COSM264599 c.4102C>T p.R1368C Substitution - Missense 1:55120753-55120753 - 401 COSM4429593 c.3579G>A p.M1193I Substitution - Missense 1:55129533-55129533 - HCT15 COSM2194399 c.6031G>T p.G2011* Substitution - Nonsense 1:55096528-55096528 - 9642_PT COSM5754478 c.3583C>T p.R1195W Substitution - Missense 1:55125448-55125448 - HCC074T COSM5810229 c.1894C>T p.L632L Substitution - coding silent 1:55147036-55147036 - TCGA-B5-A11Y-01 COSM911027 c.3820C>T p.R1274* Substitution - Nonsense 1:55125460-55125460 - 1_PRE-TREATMENT COSM1720944 c.710C>T p.S237L Substitution - Missense 1:55171578-55171578 - TCGA-DU-7306-01 COSM3966649 c.4052G>T p.S1351I Substitution - Missense 1:55124537-55124537 - 471 COSM4437795 c.3125G>A p.G1042E Substitution - Missense 1:55134077-55134077 - ESCC_BICR_027T COSM5443193 c.1992G>C p.K664N Substitution - Missense 1:55147775-55147775 - LUAD-CHTN-3090346 COSM356623 c.3888A>T p.R1296R Substitution - coding silent 1:55125392-55125392 - S00022 COSM5656429 c.1479T>C p.I493I Substitution - coding silent 1:55154746-55154746 - LUAD-CHTN-3090346 COSM356624 c.3639A>T p.R1213R Substitution - coding silent 1:55125392-55125392 - LS180 COSM2194438 c.5040T>C p.N1680N Substitution - coding silent 1:55099852-55099852 - 587342 COSM264600 c.4351C>T p.R1451C Substitution - Missense 1:55120753-55120753 - TCGA-AG-3731-01 COSM1560551 c.1233C>T p.T411T Substitution - coding silent 1:55157365-55157365 - TCGA-D5-6540-01 COSM1343579 c.4948delT p.Y1650fs*10 Deletion - Frameshift 1:55100913-55100913 - TCGA-AX-A0J1-01 COSM911035 c.3133G>T p.A1045S Substitution - Missense 1:55137583-55137583 - ESO-601 COSM1270067 c.3649G>A p.V1217M Substitution - Missense 1:55125382-55125382 - HT115 COSM2194481 c.3703G>A p.A1235T Substitution - Missense 1:55125328-55125328 - TCGA-B0-5095-01 COSM464791 c.5504G>T p.C1835F Substitution - Missense 1:55098034-55098034 - PT41 COSM5924218 c.5147C>T p.S1716L Substitution - Missense 1:55100963-55100963 - TCGA-AP-A0LG-01 COSM911001 c.5907C>T p.G1969G Substitution - coding silent 1:55096981-55096981 - YURAY COSM3491054 c.7121C>T p.P2374L Substitution - Missense 1:55079617-55079617 - TCGA-AB-2885-03 COSM1317518 c.881T>A p.F294Y Substitution - Missense 1:55165931-55165931 - Pat_63_B COSM2194349 c.7139C>T p.P2380L Substitution - Missense 1:55079599-55079599 - TCGA-CK-5913-01 COSM3689770 c.3045T>C p.D1015D Substitution - coding silent 1:55137671-55137671 - PCSI_0072_Pa_X COSM3786249 c.5283A>G p.Q1761Q Substitution - coding silent 1:55098006-55098006 - PD24322a COSM5784825 c.5765G>A p.R1922H Substitution - Missense 1:55097123-55097123 - PT27 COSM5905454 c.2095G>A p.D699N Substitution - Missense 1:55147672-55147672 - TCGA-LP-A5U2-01 COSM4833695 c.1085G>A p.R362H Substitution - Missense 1:55158927-55158927 - TCGA-AP-A0LP-01 COSM911007 c.5647A>G p.I1883V Substitution - Missense 1:55097666-55097666 - TCGA-AP-A051-01 COSM911050 c.928-1G>T p.? Unknown 1:55162265-55162265 - pfg043T COSM4755657 c.5311C>T p.Q1771* Substitution - Nonsense 1:55099830-55099830 - CRC-03T COSM5447958 c.1714A>G p.K572E Substitution - Missense 1:55154124-55154124 - SNU-175 COSM2194582 c.1036C>T p.R346W Substitution - Missense 1:55159643-55159643 - Pat_70_B COSM5847035 c.1425_1426insTTCA p.D476fs*5 Insertion - Frameshift 1:55154706-55154707 - TCGA-43-2578-01 COSM681695 c.5366C>G p.T1789S Substitution - Missense 1:55097698-55097698 - TCGA-EB-A431-01 COSM3491068 c.3407C>T p.S1136F Substitution - Missense 1:55132675-55132675 - HX17T COSM1602570 c.4411G>A p.D1471N Substitution - Missense 1:55120693-55120693 - TCGA-EE-A2A5-06 COSM3491057 c.6705G>A p.G2235G Substitution - coding silent 1:55083293-55083293 - TCGA-CS-5395-01 COSM3966652 c.495G>A p.W165* Substitution - Nonsense 1:55172491-55172491 - TCGA-BS-A0UF-01 COSM910993 c.6471T>G p.Y2157* Substitution - Nonsense 1:55092106-55092106 - CSCC-11-T COSM4554582 c.6257G>A p.R2086K Substitution - Missense 1:55094034-55094034 - TCGA-B5-A11Q-01 COSM911009 c.5543_5545delGAG p.G1848delG Deletion - In frame 1:55097993-55097995 - PCSI_0083_Pa_P COSM3377238 c.7633A>G p.N2545D Substitution - Missense 1:55072373-55072373 - Pat_05_B COSM5847033 c.3085C>T p.P1029S Substitution - Missense 1:55134117-55134117 - CHC1708T COSM4952421 c.6011C>T p.P2004L Substitution - Missense 1:55094031-55094031 - C086 COSM5541477 c.6857C>T p.P2286L Substitution - Missense 1:55079632-55079632 - ESCC-F63 COSM1343567 c.7013A>G p.Y2338C Substitution - Missense 1:55078590-55078590 - CSCC-44-T COSM4487198 c.2903C>T p.S968F Substitution - Missense 1:55137564-55137564 - ESCC_108 COSM5638590 c.1572C>G p.L524L Substitution - coding silent 1:55154266-55154266 - CSCC-47-T COSM4554122 c.5873G>A p.R1958K Substitution - Missense 1:55095336-55095336 - CSCC-60-T COSM4560254 c.835G>T p.G279* Substitution - Nonsense 1:55166594-55166594 - T3021 COSM4739723 c.5239C>T p.L1747L Substitution - coding silent 1:55100871-55100871 - TCGA-D8-A1X6-01 COSM1474100 c.4237C>T p.L1413F Substitution - Missense 1:55123486-55123486 - GB11 COSM1744710 c.4007A>C p.Q1336P Substitution - Missense 1:55123467-55123467 - TCGA-D8-A1JA-01 COSM3805630 c.3915G>A p.L1305L Substitution - coding silent 1:55123559-55123559 - PD23562a COSM5802247 c.3345_3378del34 p.K1116fs*2 Deletion - Frameshift 1:55129485-55129518 - CSCC-44-T COSM4487197 c.3152C>T p.S1051F Substitution - Missense 1:55137564-55137564 - PT15_1 COSM5897339 c.887C>T p.S296F Substitution - Missense 1:55162212-55162212 - HCC4T COSM1602568 c.4571-10delT p.? Unknown 1:55107440-55107440 - 8016470 COSM3386250 c.4759C>T p.L1587F Substitution - Missense 1:55107242-55107242 - CHC205T COSM3747031 c.584C>T p.T195I Substitution - Missense 1:55172402-55172402 - CSCC-31-T COSM4507742 c.7302C>T p.F2434F Substitution - coding silent 1:55072837-55072837 - PD24308a COSM5784806 c.4939A>T p.S1647C Substitution - Missense 1:55103962-55103962 - Pat_63_B COSM2194350 c.6890C>T p.P2297L Substitution - Missense 1:55079599-55079599 - 575 COSM3724108 c.1150G>A p.D384N Substitution - Missense 1:55158955-55158955 - 4_PRE-TREATMENT COSM1724392 c.2751-10delT p.? Unknown 1:55139020-55139020 - HCC2998 COSM2194375 c.6753T>G p.F2251L Substitution - Missense 1:55085954-55085954 - CSCC-17-T COSM4556232 c.6842G>T p.C2281F Substitution - Missense 1:55083812-55083812 - TCGA-CJ-4641-01 COSM1134933 c.6315A>G p.K2105K Substitution - coding silent 1:55093976-55093976 - BD124T COSM5491125 c.2386-3delT p.? Unknown 1:55141734-55141734 - TCGA-CA-5797-01 COSM1343569 c.6286C>T p.R2096W Substitution - Missense 1:55092042-55092042 - PD2192a COSM28474 c.4135_4136insT p.S1379fs*34 Insertion - Frameshift TCGA-EE-A2GN-06 COSM3491070 c.3343C>T p.Q1115* Substitution - Nonsense 1:55134108-55134108 - TCGA-D8-A1JA-01 COSM3805622 c.7490G>A p.G2497E Substitution - Missense 1:55071875-55071875 - 19 COSM5745645 c.6057T>A p.D2019E Substitution - Missense 1:55096502-55096502 - CHC205T COSM3747029 c.6420-7C>T p.? Unknown 1:55086045-55086045 - PAPZNK COSM5005361 c.4062A>T p.P1354P Substitution - coding silent 1:55124527-55124527 - TCGA-D5-6930-01 COSM1343593 c.2850G>A p.K950K Substitution - coding silent 1:55137617-55137617 - TCGA-AB-2898-03 COSM1317523 c.4027+1G>A p.? Unknown 1:55123446-55123446 - SNU-C2B COSM2194409 c.5936G>A p.R1979Q Substitution - Missense 1:55096952-55096952 - PT41 COSM5924219 c.4898C>T p.S1633L Substitution - Missense 1:55100963-55100963 - 87 COSM5014116 c.275T>C p.F92S Substitution - Missense 1:55178089-55178089 - TCGA-AF-3914-01 COSM5065522 c.1246G>A p.E416K Substitution - Missense 1:55157259-55157259 - CSCC-45-T COSM4500821 c.5740C>T p.P1914S Substitution - Missense 1:55097148-55097148 - PT27 COSM5905456 c.370C>T p.P124S Substitution - Missense 1:55178087-55178087 - RK308_C01 COSM3741323 c.3695C>T p.A1232V Substitution - Missense 1:55125336-55125336 - 19685 COSM5346296 c.1069-1G>T p.? Unknown 1:55159037-55159037 - PCSI_0083_Pa_P COSM3377239 c.7384A>G p.N2462D Substitution - Missense 1:55072373-55072373 - TCGA-AA-A00N-01 COSM278031 c.3850C>T p.R1284* Substitution - Nonsense 1:55124490-55124490 - HCT8 COSM2194400 c.5782G>T p.G1928* Substitution - Nonsense 1:55096528-55096528 - TCGA-EE-A2GI-06 COSM3491060 c.5597G>A p.R1866K Substitution - Missense 1:55097716-55097716 - HT115 COSM2194451 c.4980T>C p.L1660L Substitution - coding silent 1:55103921-55103921 - TCGA-AA-A00N-01 COSM278034 c.1365C>A p.Y455* Substitution - Nonsense 1:55157029-55157029 - TCGA-B5-A11E-01 COSM911046 c.1264T>C p.S422P Substitution - Missense 1:55157334-55157334 - EOPC-131_tumor_01 COSM5950472 c.30C>T p.T10T Substitution - coding silent 1:55215084-55215084 - TCGA-EE-A2A5-06 COSM3491056 c.6954G>A p.G2318G Substitution - coding silent 1:55083293-55083293 - ICC010T COSM5813960 c.3412G>A p.D1138N Substitution - Missense 1:55125733-55125733 - sysucc-1370T COSM5470367 c.5935C>T p.R1979* Substitution - Nonsense 1:55096953-55096953 - C0052T COSM4165259 c.1313A>T p.K438I Substitution - Missense 1:55156988-55156988 - TCGA-EE-A2ML-06 COSM3491055 c.6872C>T p.P2291L Substitution - Missense 1:55079617-55079617 - TCGA-34-5240-01 COSM681697 c.6455G>A p.R2152Q Substitution - Missense 1:55086003-55086003 - I2L-P10-Tumor-Organoid COSM5352663 c.5226A>G p.L1742L Substitution - coding silent 1:55100884-55100884 - TCGA-B5-A11Y-01 COSM911028 c.3571C>T p.R1191* Substitution - Nonsense 1:55125460-55125460 - S01023 COSM5666335 c.406G>T p.E136* Substitution - Nonsense 1:55176435-55176435 - CPCG0040-F1 COSM4880105 c.1125T>C p.S375S Substitution - coding silent 1:55158887-55158887 - TCGA-BK-A0C9-01 COSM911025 c.4074T>C p.S1358S Substitution - coding silent 1:55124515-55124515 - CHC1746T COSM4788031 c.1067A>C p.K356T Substitution - Missense 1:55159612-55159612 - OSCC-GB_01000111 COSM4884157 c.5662T>A p.Y1888N Substitution - Missense 1:55096977-55096977 - TCGA-BS-A0UF-01 COSM911016 c.5025T>G p.I1675M Substitution - Missense 1:55099867-55099867 - TCGA-EV-5902-01 COSM3985155 c.4636A>G p.S1546G Substitution - Missense 1:55104016-55104016 - TCGA-BR-8680-01 COSM2194575 c.1027C>T p.R343C Substitution - Missense 1:55158985-55158985 - 9399_CLM COSM4239844 c.1834G>A p.E612K Substitution - Missense 1:55153896-55153896 - TCGA-CW-5591-01 COSM464799 c.684C>T p.L228L Substitution - coding silent 1:55172395-55172395 - TCGA-BR-8382-01 COSM4009020 c.6022C>T p.R2008W Substitution - Missense 1:55094020-55094020 - TCGA-BR-7851-01 COSM4009018 c.6726G>T p.Q2242H Substitution - Missense 1:55083272-55083272 - Pat_45_A COSM5847028 c.5033C>T p.P1678L Substitution - Missense 1:55101696-55101696 - TCGA-AP-A051-01 COSM910987 c.7216C>T p.R2406W Substitution - Missense 1:55078636-55078636 - 2_PRE-TREATMENT COSM1722928 c.4931C>T p.P1644L Substitution - Missense 1:55100930-55100930 - LUAD-S01315 COSM345076 c.3310C>A p.L1104I Substitution - Missense 1:55134141-55134141 - TCGA-EI-6917-01 COSM3419334 c.2329C>A p.L777I Substitution - Missense 1:55146031-55146031 - H358 COSM1194187 c.820G>C p.D274H Substitution - Missense 1:55165899-55165899 - TCGA-AP-A0LM-01 COSM911000 c.5914C>T p.R1972* Substitution - Nonsense 1:55095295-55095295 - TCGA-CG-5721-01 COSM4009038 c.1066C>T p.R356* Substitution - Nonsense 1:55158946-55158946 - BZ23 COSM1602569 c.4322-10delT p.? Unknown 1:55107440-55107440 - 2_RESISTANT COSM1722928 c.4931C>T p.P1644L Substitution - Missense 1:55100930-55100930 - C086 COSM5541476 c.7106C>T p.P2369L Substitution - Missense 1:55079632-55079632 - ESCC_133 COSM5642442 c.1329G>A p.S443S Substitution - coding silent 1:55157269-55157269 - TCGA-B5-A11E-01 COSM911043 c.1879C>A p.P627T Substitution - Missense 1:55148552-55148552 - TCGA-GM-A3XL-01 COSM3805627 c.4248G>A p.T1416T Substitution - coding silent 1:55123475-55123475 - PCSI_0083_Pa_X COSM3377239 c.7384A>G p.N2462D Substitution - Missense 1:55072373-55072373 - DLD1 COSM2194400 c.5782G>T p.G1928* Substitution - Nonsense 1:55096528-55096528 - TCGA-BT-A2LB-01 COSM3790154 c.5268G>A p.W1756* Substitution - Nonsense 1:55100842-55100842 - TCGA-B5-A11J-01 COSM910996 c.5953_5954delCT p.L1985fs*18 Deletion - Frameshift 1:55095255-55095256 - TCGA-AP-A051-01 COSM911054 c.622T>C p.L208L Substitution - coding silent 1:55172457-55172457 - TCGA-IR-A3LI-01 COSM4846422 c.7273C>T p.Q2425* Substitution - Nonsense 1:55073832-55073832 - CRC-02T COSM5454364 c.493T>C p.W165R Substitution - Missense 1:55172493-55172493 - P07-144 COSM248238 c.4171G>C p.G1391R Substitution - Missense 1:55123552-55123552 - Patient_5 COSM1343586 c.3745G>A p.G1249R Substitution - Missense 1:55125535-55125535 - TCGA-AP-A0LM-01 COSM911003 c.5817C>T p.G1939G Substitution - coding silent 1:55097071-55097071 - 8067180 COSM3771783 c.3050A>T p.K1017M Substitution - Missense 1:55137666-55137666 - DN14014 COSM5961005 c.5031G>A p.K1677K Substitution - coding silent 1:55099861-55099861 - TCGA-EE-A2GI-06 COSM3491061 c.5348G>A p.R1783K Substitution - Missense 1:55097716-55097716 - CME_0001_Pa_C COSM3377240 c.3037A>T p.N1013Y Substitution - Missense 1:55137679-55137679 - Pat_45_A COSM5847031 c.3851G>A p.R1284Q Substitution - Missense 1:55124489-55124489 - TCGA-AB-2885-03 COSM1317519 c.788T>A p.F263Y Substitution - Missense 1:55165931-55165931 - PD12803a COSM3769892 c.7202T>A p.L2401* Substitution - Nonsense 1:55073903-55073903 - HCC120 COSM3705938 c.6715G>T p.A2239S Substitution - Missense 1:55085992-55085992 - CSCC-57-T COSM4504661 c.6719C>T p.T2240I Substitution - Missense 1:55085988-55085988 - TCGA-A6-5657-01 COSM1343585 c.3513G>A p.T1171T Substitution - coding silent 1:55125518-55125518 - LS411 COSM2194597 c.258A>G p.S86S Substitution - coding silent 1:55178106-55178106 - TCGA-AZ-6598-01 COSM1343582 c.4022C>T p.A1341V Substitution - Missense 1:55124567-55124567 - TCGA-EE-A29M-06 COSM3491066 c.3428C>T p.S1143F Substitution - Missense 1:55132654-55132654 - AOCS-056-1-X COSM3944189 c.3474A>G p.L1158L Substitution - coding silent 1:55132608-55132608 - TCGA-DY-A0XA-01 COSM1560549 c.419G>T p.W140L Substitution - Missense 1:55178038-55178038 - CRC-03T COSM5447957 c.1807A>G p.K603E Substitution - Missense 1:55154124-55154124 - TCGA-23-1120-01 COSM78755 c.3016C>G p.L1006V Substitution - Missense 1:55134350-55134350 - S02292 COSM5687206 c.7755G>C p.S2585S Substitution - coding silent 1:55071859-55071859 - SS6003149 COSM4054990 c.1135-7T>G p.? Unknown 1:55157377-55157377 - TCGA-IR-A3LK-01 COSM4817578 c.4203C>T p.L1401L Substitution - coding silent 1:55120652-55120652 - TCGA-D1-A17Q-01 COSM911032 c.3119C>A p.S1040Y Substitution - Missense 1:55134083-55134083 - RK010_C01 COSM1627128 c.5596-7delT p.? Unknown 1:55097724-55097724 - D28 COSM5546099 c.3250C>T p.P1084S Substitution - Missense 1:55132583-55132583 - HCC5T COSM3705943 c.466-4A>G p.? Unknown 1:55172524-55172524 - TCGA-BR-7851-01 COSM4009017 c.6975G>T p.Q2325H Substitution - Missense 1:55083272-55083272 - S01542 COSM5669473 c.287A>C p.D96A Substitution - Missense 1:55214827-55214827 - TCGA-E9-A54Y-01 COSM3805632 c.3482+1G>T p.? Unknown 1:55125662-55125662 - TCGA-A6-5657-01 COSM1343584 c.3762G>A p.T1254T Substitution - coding silent 1:55125518-55125518 - SC_9030 COSM5552518 c.1993G>A p.D665N Substitution - Missense 1:55146937-55146937 - I2L-P19Tb-Tumor-Organoid COSM2194473 c.4103G>A p.R1368H Substitution - Missense 1:55120752-55120752 - TCGA-D1-A15X-01 COSM911037 c.2660C>T p.P887L Substitution - Missense 1:55141706-55141706 - 479 COSM4439036 c.2767A>T p.N923Y Substitution - Missense 1:55137817-55137817 - CSCC-60-T COSM4560255 c.742G>T p.G248* Substitution - Nonsense 1:55166594-55166594 - TCGA-FU-A3HZ-01 COSM4841058 c.4972G>T p.E1658* Substitution - Nonsense 1:55103929-55103929 - TCGA-43-2578-01 COSM681694 c.5615C>G p.T1872S Substitution - Missense 1:55097698-55097698 - CSCC-10-T COSM4454964 c.6263A>G p.N2088S Substitution - Missense 1:55094028-55094028 - CSCC-45-T COSM4500822 c.5491C>T p.P1831S Substitution - Missense 1:55097148-55097148 - ESCC_78 COSM4489081 c.3180C>T p.S1060S Substitution - coding silent 1:55132653-55132653 - CRC-02T COSM5454363 c.586T>C p.W196R Substitution - Missense 1:55172493-55172493 - HCC074T COSM5810228 c.2143C>T p.L715L Substitution - coding silent 1:55147036-55147036 - PD4125a COSM165431 c.3143C>G p.S1048* Substitution - Nonsense 1:55137573-55137573 - C0058T COSM4165255 c.7045A>C p.T2349P Substitution - Missense 1:55078558-55078558 - sysucc-882T COSM5447153 c.6013G>A p.E2005K Substitution - Missense 1:55096546-55096546 - HCC003T COSM5819498 c.559-2A>T p.? Unknown 1:55172522-55172522 - CSCC-47-T COSM4502469 c.6140C>T p.S2047F Substitution - Missense 1:55095318-55095318 - HT115 COSM2194436 c.5042A>C p.K1681T Substitution - Missense 1:55099850-55099850 - CHC1746T COSM4788032 c.974A>C p.K325T Substitution - Missense 1:55159612-55159612 - TCGA-F5-6814-01 COSM3419337 c.1307G>A p.G436D Substitution - Missense 1:55156994-55156994 - HCC120 COSM3705941 c.6465G>A p.V2155V Substitution - coding silent 1:55085993-55085993 - TCGA-AO-A128-01 COSM3805624 c.6827T>A p.V2276D Substitution - Missense 1:55081324-55081324 - TCGA-D8-A1JA-01 COSM3805621 c.7739G>A p.G2580E Substitution - Missense 1:55071875-55071875 - CHOL01 COSM1744965 c.245_246insGGC p.G82_P83insA Insertion - In frame 1:55214868-55214869 - TCGA-AP-A052-01 COSM911013 c.5398A>T p.N1800Y Substitution - Missense 1:55098531-55098531 - TCGA-B5-A11Q-01 COSM911010 c.5294_5296delGAG p.G1765delG Deletion - In frame 1:55097993-55097995 - TCGA-CG-5721-01 COSM4009037 c.1159C>T p.R387* Substitution - Nonsense 1:55158946-55158946 - HCC2998 COSM2194544 c.1992G>T p.K664N Substitution - Missense 1:55147775-55147775 - LUAD-S01315 COSM345077 c.3061C>A p.L1021I Substitution - Missense 1:55134141-55134141 - TCGA-D1-A17Q-01 COSM911023 c.4183C>T p.R1395* Substitution - Nonsense 1:55123540-55123540 - YUSCA COSM5381288 c.671G>A p.W224* Substitution - Nonsense 1:55171617-55171617 - CSCC-10-T COSM4454965 c.6014A>G p.N2005S Substitution - Missense 1:55094028-55094028 - PCSI_0083_Pa_P_526 COSM3377238 c.7633A>G p.N2545D Substitution - Missense 1:55072373-55072373 - 1_PRE-TREATMENT COSM1720942 c.2960_2961CC>TT p.S987F Substitution - Missense 1:55134405-55134406 - C608 COSM2194367 c.6794T>C p.V2265A Substitution - Missense 1:55083860-55083860 - TCGA-FJ-A3ZE-01 COSM3790153 c.6635A>C p.Q2212P Substitution - Missense 1:55083363-55083363 - TCGA-FJ-A3ZE-01 COSM3790152 c.6884A>C p.Q2295P Substitution - Missense 1:55083363-55083363 - CSCC-16-T COSM4501169 c.5828C>T p.S1943F Substitution - Missense 1:55097060-55097060 - TCGA-34-5929-01 COSM681685 c.2260G>T p.E754* Substitution - Nonsense 1:55143050-55143050 - TCGA-GF-A6C9-06 COSM4899528 c.6856C>T p.P2286S Substitution - Missense 1:55079633-55079633 - TCGA-FU-A3HZ-01 COSM4841059 c.4723G>T p.E1575* Substitution - Nonsense 1:55103929-55103929 - BCN26 COSM4172171 c.2809C>T p.H937Y Substitution - Missense 1:55137658-55137658 - TCGA-56-6546-01 COSM681683 c.1365A>T p.S455S Substitution - coding silent 1:55154767-55154767 - HCC121 COSM1602572 c.2566C>A p.P856T Substitution - Missense 1:55142993-55142993 - TCGA-BP-5170-01 COSM464793 c.5229G>A p.M1743I Substitution - Missense 1:55100881-55100881 - TCGA-BR-A453-01 COSM4009035 c.1744G>T p.D582Y Substitution - Missense 1:55154187-55154187 - 4_PRE-TREATMENT COSM1724393 c.2502-10delT p.? Unknown 1:55139020-55139020 - 471 COSM4437794 c.3374G>A p.G1125E Substitution - Missense 1:55134077-55134077 - TCGA-BS-A0UF-01 COSM910994 c.6222T>G p.Y2074* Substitution - Nonsense 1:55092106-55092106 - TCGA-CZ-5465-01 COSM464802 c.399T>A p.G133G Substitution - coding silent 1:55176442-55176442 - DLD1 COSM2194399 c.6031G>T p.G2011* Substitution - Nonsense 1:55096528-55096528 - PD11326a COSM5789782 c.5022+7C>T p.? Unknown 1:55100832-55100832 - Pat_41_B COSM5847024 c.6065A>C p.N2022T Substitution - Missense 1:55095393-55095393 - I2L-P10-Tumor-Organoid COSM5352664 c.4977A>G p.L1659L Substitution - coding silent 1:55100884-55100884 - TCGA-B5-A11E-01 COSM911044 c.1681C>A p.L561I Substitution - Missense 1:55154250-55154250 - 2521243 COSM5886119 c.7603-5C>T p.? Unknown 1:55072408-55072408 - Au5 COSM5606180 c.4786T>C p.L1596L Substitution - coding silent 1:55106240-55106240 - ICGC_MB92 COSM3764200 c.2592T>C p.S864S Substitution - coding silent 1:55142784-55142784 - I2L-P19Tb-Tumor-Organoid COSM2194472 c.4352G>A p.R1451H Substitution - Missense 1:55120752-55120752 - HCC120T COSM3705938 c.6715G>T p.A2239S Substitution - Missense 1:55085992-55085992 - TCGA-G2-A2EO-01 COSM1296601 c.3568G>A p.D1190N Substitution - Missense 1:55129544-55129544 - HCC4T COSM1602569 c.4322-10delT p.? Unknown 1:55107440-55107440 - TCGA-D1-A17Q-01 COSM911040 c.2264T>G p.I755S Substitution - Missense 1:55143046-55143046 - 575 COSM3724109 c.1057G>A p.D353N Substitution - Missense 1:55158955-55158955 - TCGA-BT-A2LB-01 COSM3790155 c.5019G>A p.W1673* Substitution - Nonsense 1:55100842-55100842 - 87 COSM5014115 c.368T>C p.F123S Substitution - Missense 1:55178089-55178089 - CSCC-20-T COSM4502759 c.5966C>T p.S1989F Substitution - Missense 1:55094076-55094076 - 1N03-VS-1T03 COSM4972570 c.3020A>G p.D1007G Substitution - Missense 1:55137813-55137813 - TCGA-F5-6814-01 COSM3749061 c.5388C>T p.S1796S Substitution - coding silent 1:55097676-55097676 - 8016470 COSM3386251 c.4510C>T p.L1504F Substitution - Missense 1:55107242-55107242 - TCGA-B7-5816-01 COSM4009029 c.3941C>T p.A1314V Substitution - Missense 1:55125339-55125339 - I2L-P7-Tumor-Organoid COSM5353596 c.2585C>T p.P862L Substitution - Missense 1:55138702-55138702 - TCGA-B0-5095-01 COSM464792 c.5255G>T p.C1752F Substitution - Missense 1:55098034-55098034 - sysucc-1163T COSM5458507 c.3887G>A p.R1296Q Substitution - Missense 1:55125393-55125393 - SW48 COSM2194497 c.3251delC p.P1084fs*12 Deletion - Frameshift 1:55132582-55132582 - TCGA-BP-5170-01 COSM464794 c.4980G>A p.M1660I Substitution - Missense 1:55100881-55100881 - LS180 COSM2194437 c.5289T>C p.N1763N Substitution - coding silent 1:55099852-55099852 - HCC5 COSM3705943 c.466-4A>G p.? Unknown 1:55172524-55172524 - ESO-601 COSM1270066 c.3898G>A p.V1300M Substitution - Missense 1:55125382-55125382 - LN18 COSM2194527 c.2180G>T p.G727V Substitution - Missense 1:55144137-55144137 - BZ23 COSM1602568 c.4571-10delT p.? Unknown 1:55107440-55107440 - PCSI_0083_Pa_X COSM3377243 c.2778+3A>G p.? Unknown 1:55137803-55137803 - 1_RESISTANT COSM1720943 c.803C>T p.S268L Substitution - Missense 1:55171578-55171578 - KYSE50 COSM2194458 c.4606A>G p.I1536V Substitution - Missense 1:55106171-55106171 - TCGA-A6-6653-01 COSM1343606 c.1556A>T p.K519M Substitution - Missense 1:55154372-55154372 - CSCC-57-T COSM4504662 c.6470C>T p.T2157I Substitution - Missense 1:55085988-55085988 - pfg160T COSM4755653 c.6048A>C p.K2016N Substitution - Missense 1:55096511-55096511 - HCC2998 COSM2194531 c.2086T>C p.L696L Substitution - coding silent 1:55146025-55146025 - CSCC-55-T COSM4499528 c.5449C>T p.H1817Y Substitution - Missense 1:55098480-55098480 - 587376 COSM1232008 c.6642T>G p.I2214M Substitution - Missense 1:55083356-55083356 - HCC5T COSM3705942 c.559-4A>G p.? Unknown 1:55172524-55172524 - TCGA-Q1-A73O-01 COSM4835379 c.53C>G p.S18* Substitution - Nonsense 1:55215061-55215061 - BD124T COSM5491124 c.2635-3delT p.? Unknown 1:55141734-55141734 - TCGA-B5-A11J-01 COSM910995 c.6202_6203delCT p.L2068fs*18 Deletion - Frameshift 1:55095255-55095256 - TCGA-BR-6452-01 COSM4009039 c.955G>C p.G319R Substitution - Missense 1:55162237-55162237 - HN_63058 COSM130110 c.1270T>C p.Y424H Substitution - Missense 1:55157031-55157031 - SNU-175 COSM2194583 c.943C>T p.R315W Substitution - Missense 1:55159643-55159643 - TCGA-F5-6814-01 COSM3419336 c.1400G>A p.G467D Substitution - Missense 1:55156994-55156994 - TCGA-CZ-5465-01 COSM464801 c.492T>A p.G164G Substitution - coding silent 1:55176442-55176442 - TCGA-AO-A128-01 COSM3805623 c.7076T>A p.V2359D Substitution - Missense 1:55081324-55081324 - YURAY COSM5381284 c.5058A>C p.R1686S Substitution - Missense 1:55099834-55099834 - 6948_PT COSM5754476 c.6991G>A p.A2331T Substitution - Missense 1:55078612-55078612 - 35 COSM4172169 c.3303A>C p.K1101N Substitution - Missense 1:55129560-55129560 - TCGA-AH-6897-01 COSM5075740 c.519_521delAAG p.R174delR Deletion - In frame 1:55176413-55176415 - sysucc-1317T COSM5447957 c.1807A>G p.K603E Substitution - Missense 1:55154124-55154124 - T3064 COSM4739722 c.5634A>G p.V1878V Substitution - coding silent 1:55097005-55097005 - TCGA-CS-5395-01 COSM3966651 c.588G>A p.W196* Substitution - Nonsense 1:55172491-55172491 - TCGA-BR-7716-01 COSM4009028 c.4907C>T p.S1636L Substitution - Missense 1:55100954-55100954 - TCGA-24-1419-01 COSM73227 c.991C>G p.P331A Substitution - Missense 1:55159021-55159021 - TCGA-D1-A17Q-01 COSM911031 c.3368C>A p.S1123Y Substitution - Missense 1:55134083-55134083 - TCGA-FW-A3R5-06 COSM3865854 c.4692C>T p.I1564I Substitution - coding silent 1:55107309-55107309 - HCC003T COSM5819499 c.466-2A>T p.? Unknown 1:55172522-55172522 - BICR_22 COSM2194360 c.6773A>G p.H2258R Substitution - Missense 1:55081378-55081378 - RK167_C01 COSM1627126 c.7527-8delG p.? Unknown 1:55072869-55072869 - RK155_C01 COSM3700761 c.3332C>T p.A1111V Substitution - Missense 1:55129531-55129531 - TCGA-DU-7306-01 COSM3966650 c.3803G>T p.S1268I Substitution - Missense 1:55124537-55124537 - TCGA-10-0930-01 COSM76968 c.7012T>C p.Y2338H Substitution - Missense 1:55078591-55078591 - RK167_C01 COSM1627127 c.7278-8delG p.? Unknown 1:55072869-55072869 - TCGA-BS-A0UV-01 COSM911021 c.4211C>T p.S1404L Substitution - Missense 1:55123512-55123512 - TCGA-46-3765-01 COSM681690 c.4711C>T p.R1571C Substitution - Missense 1:55107290-55107290 - TCGA-AA-A010-01 COSM286387 c.7753T>C p.S2585P Substitution - Missense 1:55071861-55071861 - HT115 COSM2194379 c.6673T>G p.F2225V Substitution - Missense 1:55086034-55086034 - TCGA-AP-A0LM-01 COSM910999 c.6163C>T p.R2055* Substitution - Nonsense 1:55095295-55095295 - TCGA-FP-A4BE-01 COSM4009031 c.2771T>G p.I924S Substitution - Missense 1:55138990-55138990 - TCGA-AX-A1C8-01 COSM911018 c.4694C>T p.S1565L Substitution - Missense 1:55103958-55103958 - 74 COSM4777908 c.5417G>T p.G1806V Substitution - Missense 1:55097647-55097647 - TCGA-B7-5816-01 COSM4009030 c.3692C>T p.A1231V Substitution - Missense 1:55125339-55125339 - TCGA-GN-A265-06 COSM3491065 c.3632C>T p.S1211F Substitution - Missense 1:55125399-55125399 - SS6003149 COSM4054989 c.1228-7T>G p.? Unknown 1:55157377-55157377 - Patient_5 COSM1343587 c.3496G>A p.G1166R Substitution - Missense 1:55125535-55125535 - TCGA-AP-A051-01 COSM910988 c.6967C>T p.R2323W Substitution - Missense 1:55078636-55078636 - PD11326a COSM5789781 c.5271+7C>T p.? Unknown 1:55100832-55100832 - TCGA-F5-6814-01 COSM3749060 c.5637C>T p.S1879S Substitution - coding silent 1:55097676-55097676 - TCGA-AP-A0LM-01 COSM911033 c.3304C>T p.R1102W Substitution - Missense 1:55134147-55134147 - ME001T COSM192064 c.2462C>T p.A821V Substitution - Missense 1:55141655-55141655 - TCGA-E2-A574-01 COSM3805625 c.5161G>A p.D1721N Substitution - Missense 1:55100949-55100949 - CSCC-47-T COSM4502470 c.5891C>T p.S1964F Substitution - Missense 1:55095318-55095318 - Pat_70_A COSM5847035 c.1425_1426insTTCA p.D476fs*5 Insertion - Frameshift 1:55154706-55154707 - HCC120 COSM3705939 c.6466G>T p.A2156S Substitution - Missense 1:55085992-55085992 - TCGA-GN-A265-06 COSM3491064 c.3881C>T p.S1294F Substitution - Missense 1:55125399-55125399 - ESO-610 COSM1270061 c.6632delA p.K2211fs*11 Deletion - Frameshift 1:55083773-55083773 - C086 COSM5541473 c.3647C>T p.S1216F Substitution - Missense 1:55125384-55125384 - TCGA-24-1422-01 COSM73226 c.2831A>G p.E944G Substitution - Missense 1:55137636-55137636 - TCGA-D1-A102-01 COSM911006 c.5418G>A p.G1806G Substitution - coding silent 1:55097646-55097646 - TCGA-E9-A1NG-01 COSM1474102 c.716A>G p.D239G Substitution - Missense 1:55171665-55171665 - PCSI_0072_Pa_P COSM3786248 c.5532A>G p.Q1844Q Substitution - coding silent 1:55098006-55098006 - T2284 COSM4739728 c.972_973delCA p.D324fs*5 Deletion - Frameshift 1:55159613-55159614 - TCGA-HU-A4GQ-01 COSM4009024 c.5543A>G p.E1848G Substitution - Missense 1:55097096-55097096 - CHC205T COSM3747026 c.7403T>C p.V2468A Substitution - Missense 1:55075501-55075501 - TCGA-B5-A11E-01 COSM911045 c.1588C>A p.L530I Substitution - Missense 1:55154250-55154250 - Pat_59_B COSM5847026 c.5929G>A p.D1977N Substitution - Missense 1:55096959-55096959 - 46M COSM5589322 c.2866C>A p.H956N Substitution - Missense 1:55138670-55138670 - TCGA-E9-A1NG-01 COSM1474103 c.623A>G p.D208G Substitution - Missense 1:55171665-55171665 - TCGA-AP-A0LG-01 COSM911002 c.5658C>T p.G1886G Substitution - coding silent 1:55096981-55096981 - ESO-859 COSM1240621 c.2426C>T p.A809V Substitution - Missense 1:55141691-55141691 - CSCC-47-T COSM4553011 c.5789G>T p.G1930V Substitution - Missense 1:55097099-55097099 - TCGA-FU-A3HZ-01 COSM4839236 c.1124C>A p.S375Y Substitution - Missense 1:55158888-55158888 - TCGA-AB-2898-03 COSM1317522 c.4276+1G>A p.? Unknown 1:55123446-55123446 - HX17T COSM1602571 c.4162G>A p.D1388N Substitution - Missense 1:55120693-55120693 - CHC205T COSM3747030 c.677C>T p.T226I Substitution - Missense 1:55172402-55172402 - PD4125a COSM165430 c.2894C>G p.S965* Substitution - Nonsense 1:55137573-55137573 - PD4937a COSM165429 c.1930C>T p.R644C Substitution - Missense 1:55148501-55148501 - 254891 COSM3726776 c.6882+1G>T p.? Unknown 1:55083771-55083771 - PTC-1C COSM4144103 c.186C>T p.P62P Substitution - coding silent 1:55214928-55214928 - HCC2998 COSM2194530 c.2335T>C p.L779L Substitution - coding silent 1:55146025-55146025 - 1N03-VS-1T03 COSM4972571 c.2771A>G p.D924G Substitution - Missense 1:55137813-55137813 - TCGA-34-5240-01 COSM681687 c.2745G>T p.V915V Substitution - coding silent 1:55137839-55137839 - CSCC-60-T COSM4506215 c.713C>T p.P238L Substitution - Missense 1:55171668-55171668 - 254891 COSM3726777 c.6633+1G>T p.? Unknown 1:55083771-55083771 - HCC5 COSM3705942 c.559-4A>G p.? Unknown 1:55172524-55172524 - GHE0536 COSM5713813 c.2150A>C p.N717T Substitution - Missense 1:55144167-55144167 - TCGA-AP-A052-01 COSM911014 c.5149A>T p.N1717Y Substitution - Missense 1:55098531-55098531 - TCGA-C5-A7CL-01 COSM4837898 c.7596G>C p.Q2532H Substitution - Missense 1:55072792-55072792 - 401 COSM4429594 c.3330G>A p.M1110I Substitution - Missense 1:55129533-55129533 - GC8_T COSM146525 c.5569G>A p.G1857S Substitution - Missense 1:55097070-55097070 - CHC205T COSM3747028 c.6669-7C>T p.? Unknown 1:55086045-55086045 - TCGA-EB-A431-01 COSM3491069 c.3158C>T p.S1053F Substitution - Missense 1:55132675-55132675 - PCSI_0072_Pa_P_526 COSM3786248 c.5532A>G p.Q1844Q Substitution - coding silent 1:55098006-55098006 - TCGA-A6-6781-01 COSM1343597 c.2959C>T p.R987W Substitution - Missense 1:55137874-55137874 - TCGA-E9-A54Y-01 COSM3805631 c.3731+1G>T p.? Unknown 1:55125662-55125662 - TCGA-FU-A3HZ-01 COSM4839235 c.1217C>A p.S406Y Substitution - Missense 1:55158888-55158888 - TCGA-D1-A17Q-01 COSM911039 c.2513T>G p.I838S Substitution - Missense 1:55143046-55143046 - HCC74T COSM1602575 c.2155T>G p.C719G Substitution - Missense 1:55144162-55144162 - T3094 COSM4739726 c.2265_2266insT p.A756fs*2 Insertion - Frameshift 1:55143044-55143045 - CHC1746T COSM4788032 c.974A>C p.K325T Substitution - Missense 1:55159612-55159612 - TCGA-EV-5902-01 COSM3985154 c.4885A>G p.S1629G Substitution - Missense 1:55104016-55104016 - TCGA-D1-A102-01 COSM911005 c.5667G>A p.G1889G Substitution - coding silent 1:55097646-55097646 - PT27 COSM5905457 c.277C>T p.P93S Substitution - Missense 1:55178087-55178087 - TCGA-CG-4442-01 COSM2194574 c.1120C>T p.R374C Substitution - Missense 1:55158985-55158985 - CSCC-47-T COSM4553012 c.5540G>T p.G1847V Substitution - Missense 1:55097099-55097099 - D28 COSM5546101 c.3251C>T p.P1084L Substitution - Missense 1:55132582-55132582 - pfg057T COSM4755666 c.599T>A p.I200N Substitution - Missense 1:55172480-55172480 - TCGA-CA-6717-01 COSM1343590 c.3243C>T p.N1081N Substitution - coding silent 1:55134372-55134372 - TCGA-EE-A2GC-06 COSM3491058 c.6230C>T p.S2077L Substitution - Missense 1:55094061-55094061 - C0092T COSM4165261 c.944G>A p.R315Q Substitution - Missense 1:55159642-55159642 - PCSI_0056_Pa_X COSM3377240 c.3037A>T p.N1013Y Substitution - Missense 1:55137679-55137679 - C0092T COSM4165260 c.1037G>A p.R346Q Substitution - Missense 1:55159642-55159642 - PCSI_0072_Pa_P COSM3786249 c.5283A>G p.Q1761Q Substitution - coding silent 1:55098006-55098006 - sysucc-1163T COSM5458510 c.1101C>T p.A367A Substitution - coding silent 1:55159004-55159004 - TCGA-AP-A059-01 COSM910992 c.6230G>A p.C2077Y Substitution - Missense 1:55092098-55092098 - PT33 COSM5908046 c.3538-6C>T p.? Unknown 1:55129580-55129580 - TCGA-FS-A1ZS-06 COSM3491063 c.4136G>A p.S1379N Substitution - Missense 1:55120719-55120719 - CSCC-16-T COSM4549527 c.4509G>T p.M1503I Substitution - Missense 1:55107243-55107243 - ESO-1608 COSM1270064 c.7838G>A p.S2613N Substitution - Missense 1:55069070-55069070 - TCGA-AP-A0LM-01 COSM911052 c.813G>A p.S271S Substitution - coding silent 1:55171568-55171568 - HCT8 COSM2194399 c.6031G>T p.G2011* Substitution - Nonsense 1:55096528-55096528 - EOPC-131_tumor_01 COSM5950471 c.30C>T p.T10T Substitution - coding silent 1:55215084-55215084 - CSCC-20-T COSM4502758 c.6215C>T p.S2072F Substitution - Missense 1:55094076-55094076 - 35 COSM4172168 c.3552A>C p.K1184N Substitution - Missense 1:55129560-55129560 - TCGA-D7-A4YY-01 COSM4009026 c.5213G>A p.R1738H Substitution - Missense 1:55098076-55098076 - 2521249 COSM5887655 c.4261C>T p.R1421W Substitution - Missense 1:55123462-55123462 - C0060T COSM4165256 c.5991T>A p.F1997L Substitution - Missense 1:55096568-55096568 - D28 COSM5546098 c.3499C>T p.P1167S Substitution - Missense 1:55132583-55132583 - 71M COSM5596137 c.198C>T p.P66P Substitution - coding silent 1:55214916-55214916 - TCGA-D8-A1JA-01 COSM3805629 c.4164G>A p.L1388L Substitution - coding silent 1:55123559-55123559 - CSCC-11-T COSM4554583 c.6008G>A p.R2003K Substitution - Missense 1:55094034-55094034 - H358 COSM1194186 c.913G>C p.D305H Substitution - Missense 1:55165899-55165899 - CME_0001_Pa_C COSM3377241 c.2788A>T p.N930Y Substitution - Missense 1:55137679-55137679 - TCGA-AG-A002-01 COSM264600 c.4351C>T p.R1451C Substitution - Missense 1:55120753-55120753 - TCGA-A5-A0VP-01 COSM911049 c.902C>A p.P301H Substitution - Missense 1:55159684-55159684 - HT115 COSM2194480 c.3952G>A p.A1318T Substitution - Missense 1:55125328-55125328 - TCGA-AB-2811-03 COSM1317521 c.1461+2T>C p.? Unknown 1:55154669-55154669 - TCGA-AG-3731-01 COSM1560552 c.1140C>T p.T380T Substitution - coding silent 1:55157365-55157365 - TCGA-D8-A1X6-01 COSM1474101 c.3988C>T p.L1330F Substitution - Missense 1:55123486-55123486 - T578 COSM4739720 c.7021T>G p.F2341V Substitution - Missense 1:55078582-55078582 - TCGA-BS-A0UV-01 COSM278032 c.4099C>T p.R1367* Substitution - Nonsense 1:55124490-55124490 - TCGA-CW-5591-01 COSM464803 c.491-1G>T p.? Unknown 1:55176444-55176444 - YUOTHO COSM5381286 c.3078C>T p.P1026P Substitution - coding silent 1:55134124-55134124 - LUAD-CHTN-MAD04-00674 COSM357795 c.45G>A p.M15I Substitution - Missense 1:55215069-55215069 - S00022 COSM5656430 c.1386T>C p.I462I Substitution - coding silent 1:55154746-55154746 - TCGA-DK-A3IL-01 COSM1296599 c.5992G>T p.D1998Y Substitution - Missense 1:55096567-55096567 - TCGA-EE-A29M-06 COSM3491067 c.3179C>T p.S1060F Substitution - Missense 1:55132654-55132654 - TCGA-DK-A3IL-01 COSM1296600 c.5743G>T p.D1915Y Substitution - Missense 1:55096567-55096567 - TCGA-AH-6897-01 COSM5075741 c.426_428delAAG p.R143delR Deletion - In frame 1:55176413-55176415 - TCGA-13-1407-01 COSM82439 c.1971T>G p.T657T Substitution - coding silent 1:55146959-55146959 - ESO-859 COSM1240620 c.2675C>T p.A892V Substitution - Missense 1:55141691-55141691 - SW48 COSM2194496 c.3500delC p.P1167fs*12 Deletion - Frameshift 1:55132582-55132582 - TCGA-AA-3663-01 COSM1343572 c.6005A>G p.E2002G Substitution - Missense 1:55096554-55096554 - CSB3 COSM5025283 c.3224T>A p.V1075E Substitution - Missense 1:55134391-55134391 - TCGA-C5-A7CL-01 COSM4837899 c.7347G>C p.Q2449H Substitution - Missense 1:55072792-55072792 - TCGA-ES-A2HS-01 COSM4910540 c.7445C>A p.T2482K Substitution - Missense 1:55071920-55071920 - 587376 COSM1232007 c.6891T>G p.I2297M Substitution - Missense 1:55083356-55083356 - TCGA-HU-A4GQ-01 COSM4009033 c.2060C>T p.A687V Substitution - Missense 1:55147707-55147707 - C0058T COSM4165254 c.7294A>C p.T2432P Substitution - Missense 1:55078558-55078558 - ESCC-D16 COSM5045552 c.3688G>C p.E1230Q Substitution - Missense 1:55125706-55125706 - TCGA-33-6737-01 COSM681701 c.6962C>G p.A2321G Substitution - Missense 1:55078641-55078641 - BD171T COSM5494722 c.3134C>G p.A1045G Substitution - Missense 1:55137582-55137582 - S02292 COSM5687207 c.7506G>C p.S2502S Substitution - coding silent 1:55071859-55071859 - SC_9030 COSM5552517 c.2242G>A p.D748N Substitution - Missense 1:55146937-55146937 - TCGA-EI-6917-01 COSM3419335 c.2080C>A p.L694I Substitution - Missense 1:55146031-55146031 - sysucc-1163T COSM5458511 c.1008C>T p.A336A Substitution - coding silent 1:55159004-55159004 - TCGA-BS-A0UF-01 COSM911042 c.1942G>A p.A648T Substitution - Missense 1:55146988-55146988 - HT115 COSM2194452 c.4731T>C p.L1577L Substitution - coding silent 1:55103921-55103921 - D28 COSM5546100 c.3500C>T p.P1167L Substitution - Missense 1:55132582-55132582 - BICR_22 COSM2194359 c.7022A>G p.H2341R Substitution - Missense 1:55081378-55081378 - Pat_45_A COSM5847030 c.4100G>A p.R1367Q Substitution - Missense 1:55124489-55124489 - TCGA-D7-A4YY-01 COSM4009025 c.5462G>A p.R1821H Substitution - Missense 1:55098076-55098076 - TCGA-CA-5797-01 COSM1343568 c.6535C>T p.R2179W Substitution - Missense 1:55092042-55092042 - PD12803a COSM3769891 c.7451T>A p.L2484* Substitution - Nonsense 1:55073903-55073903 - CSCC-17-T COSM4556233 c.6593G>T p.C2198F Substitution - Missense 1:55083812-55083812 - CHC205T COSM3747027 c.7154T>C p.V2385A Substitution - Missense 1:55075501-55075501 - TCGA-BR-6452-01 COSM4009040 c.862G>C p.G288R Substitution - Missense 1:55162237-55162237 - TCGA-AP-A051-01 COSM911051 c.835-1G>T p.? Unknown 1:55162265-55162265 - T613 COSM4739717 c.7623A>G p.T2541T Substitution - coding silent 1:55072383-55072383 - HCC2218 COSM24329 c.4548C>A p.F1516L Substitution - Missense 1:55106229-55106229 - HCC121T COSM1602573 c.2317C>A p.P773T Substitution - Missense 1:55142993-55142993 - 2521243 COSM5886120 c.7354-5C>T p.? Unknown 1:55072408-55072408 - PT15_1 COSM5897338 c.980C>T p.S327F Substitution - Missense 1:55162212-55162212 - C608 COSM2194368 c.6545T>C p.V2182A Substitution - Missense 1:55083860-55083860 - TCGA-CJ-4641-01 COSM1134934 c.6066A>G p.K2022K Substitution - coding silent 1:55093976-55093976 - HCC125T COSM5822619 c.3420A>G p.K1140K Substitution - coding silent 1:55132662-55132662 - TCGA-ED-A4XI-01 COSM4913318 c.1151A>G p.D384G Substitution - Missense 1:55158954-55158954 - TCGA-EE-A2GN-06 COSM3491071 c.3094C>T p.Q1032* Substitution - Nonsense 1:55134108-55134108 - RK010_C01 COSM1627129 c.5347-7delT p.? Unknown 1:55097724-55097724 - TCGA-BG-A0VZ-01 COSM911029 c.3761C>T p.T1254M Substitution - Missense 1:55125519-55125519 - TCGA-DY-A0XA-01 COSM1560550 c.326G>T p.W109L Substitution - Missense 1:55178038-55178038 - PD3559a COSM30317 c.6201T>A p.A2067A Substitution - coding silent 1:55092821-55092821 - TCGA-BR-8363-01 COSM4009021 c.5930A>G p.D1977G Substitution - Missense 1:55096958-55096958 - J90_T COSM3977773 c.378A>G p.T126T Substitution - coding silent 1:55178079-55178079 - TCGA-CA-6717-01 COSM1343591 c.2994C>T p.N998N Substitution - coding silent 1:55134372-55134372 - S01023 COSM5666334 c.499G>T p.E167* Substitution - Nonsense 1:55176435-55176435 - TCGA-CW-5591-01 COSM464804 c.398-1G>T p.? Unknown 1:55176444-55176444 - pfg043T COSM4755658 c.5062C>T p.Q1688* Substitution - Nonsense 1:55099830-55099830 - YUDEGAS COSM5413343 c.756A>G p.Q252Q Substitution - coding silent 1:55171625-55171625 - Au3 COSM5602580 c.6332C>T p.T2111I Substitution - Missense 1:55089714-55089714 - TCGA-E2-A574-01 COSM3805626 c.4912G>A p.D1638N Substitution - Missense 1:55100949-55100949 - CHC1708T COSM4952420 c.6260C>T p.P2087L Substitution - Missense 1:55094031-55094031 - TCGA-AP-A0LM-01 COSM911053 c.720G>A p.S240S Substitution - coding silent 1:55171568-55171568 - J90_T COSM3977774 c.285A>G p.T95T Substitution - coding silent 1:55178079-55178079 - OSCC-GB_01000111 COSM4884156 c.5911T>A p.Y1971N Substitution - Missense 1:55096977-55096977 - 8067180 COSM3771784 c.2801A>T p.K934M Substitution - Missense 1:55137666-55137666 - TCGA-CK-5913-01 COSM3689771 c.2796T>C p.D932D Substitution - coding silent 1:55137671-55137671 - TCGA-BR-8363-01 COSM4009022 c.5681A>G p.D1894G Substitution - Missense 1:55096958-55096958 - CSCC-19-T COSM4501210 c.5831C>T p.P1944L Substitution - Missense 1:55097057-55097057 - KYSE50 COSM2194457 c.4855A>G p.I1619V Substitution - Missense 1:55106171-55106171 - CPCG0040-F1 COSM4880104 c.1218T>C p.S406S Substitution - coding silent 1:55158887-55158887 - ESCC-F120 COSM5047061 c.6555-1G>A p.? Unknown 1:55089741-55089741 - HCC74 COSM1602575 c.2155T>G p.C719G Substitution - Missense 1:55144162-55144162 - CSCC-31-T COSM4489080 c.3429C>T p.S1143S Substitution - coding silent 1:55132653-55132653 - TCGA-D1-A17Q-01 COSM911024 c.3934C>T p.R1312* Substitution - Nonsense 1:55123540-55123540 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.477009 1p32.3 610569

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C 3-UTRSNV . c.7860+2029T>G 1 55532692 HC AC - Frameshift p.C2510Sfs*4 c.7529_7530delGT 1 55538531 PRAD A C Synonymous p.T740T c.2220T>G 1 55612632 OV ACTT - IntronicDeletion . c.6668+3_6668+6delAAGT 1 55555294 BRCA A G Missense p.Y2421H c.7261T>C 1 55544264 OV A G Missense p.Y455H c.1363T>C 1 55622704 HNSC AG - SpliceDonorDeletion . c.6202_6203delCT 1 55560928 UCEC A G Synonymous p.A2169A c.6507T>C 1 55557743 HNSC A G Synonymous p.H2382H c.7146T>C 1 55545265 LUSC A G Synonymous p.S1358S c.4074T>C 1 55590188 UCEC A G Synonymous p.S864S c.2592T>C 1 55608457 MB A T Missense p.S1294T c.3880T>A 1 55591073 OV A T Missense p.V1075E c.3224T>A 1 55600064 BRCA A T Synonymous p.G164G c.492T>A 1 55642115 RCCC A T Synonymous p.L921L c.2763T>A 1 55604671 LUAD C A IntronicSNV . c.1860+871G>T 1 55618672 CLL C A Missense p.C1417F c.4250G>T 1 55589146 LUAD C A Missense p.D1263Y c.3787G>T 1 55591166 LUAD C A Missense p.D1998Y c.5992G>T 1 55562240 BLCA C A Missense p.W255C c.765G>T 1 55637289 LUAD C A Nonsense p.E837* c.2509G>T 1 55608723 LUSC C A SpliceAcceptorSNV . c.491-1G>T 1 55642117 RCCC C A Synonymous p.G2394G c.7182G>T 1 55545229 HNSC C A Synonymous p.V998V c.2994G>T 1 55603512 LUSC CTC - InFrameDeletion p.G1848delG c.5543_5545delGAG 1 55563666 UCEC C T Missense p.D1190N c.3568G>A 1 55595217 BLCA C T Missense p.D1729N c.5185G>A 1 55566598 LUSC C T Missense p.D2026N c.6076G>A 1 55561055 HNSC C T Missense p.G727D c.2180G>A 1 55612672 CM C T Missense p.R1866K c.5597G>A 1 55563389 CM C T Missense p.R2235Q c.6704G>A 1 55551676 LUSC C T Missense p.R604K c.1811G>A 1 55619793 ESCA C T Missense p.S1462N c.4385G>A 1 55586392 CM C T Missense p.S2613N c.7838G>A 1 55534743 ESCA C T Missense p.V1300M c.3898G>A 1 55591055 ESCA C T Missense p.V2210I c.6628G>A 1 55555340 BRCA C T Missense p.V767I c.2299G>A 1 55611734 CLL C T Nonsense p.W1756* c.5268G>A 1 55566515 BLCA C T Nonsense p.W196* c.588G>A 1 55638164 LGG C T SpliceDonorSNV . c.4276+1G>A 1 55589119 AML C T Synonymous p.E2383E c.7149G>A 1 55545262 UCEC C T Synonymous p.G1889G c.5667G>A 1 55563319 UCEC C T Synonymous p.G2318G c.6954G>A 1 55548966 CM C T Synonymous p.L1691L c.5073G>A 1 55567329 MM C T Synonymous p.L470L c.1410G>A 1 55622657 RCCC C T Synonymous p.R1102R c.3306G>A 1 55599818 HNSC C T Synonymous p.V1075V c.3225G>A 1 55600063 CM G A Missense p.A1077V c.3230C>T 1 55600058 LUAD G A Missense p.A1314V c.3941C>T 1 55591012 STAD G A Missense p.A2569V c.7706C>T 1 55537581 COREAD G A Missense p.A892V c.2675C>T 1 55607364 ESCA G A Missense p.A904V c.2711C>T 1 55607328 CM G A Missense p.L1413F c.4237C>T 1 55589159 BRCA G A Missense p.P2374L c.7121C>T 1 55545290 CM G A Missense p.R1552C c.4654C>T 1 55573020 CM G A Missense p.R1571C c.4711C>T 1 55572963 LUSC G A Missense p.R644C c.1930C>T 1 55614174 BRCA G A Missense p.S1143F c.3428C>T 1 55598327 CM G A Missense p.S1294F c.3881C>T 1 55591072 CM G A Missense p.S2077L c.6230C>T 1 55559734 CM G A Missense p.T1254M c.3761C>T 1 55591192 UCEC G A Nonsense p.Q1115* c.3343C>T 1 55599781 CM G A Nonsense p.R1274* c.3820C>T 1 55591133 UCEC G A Synonymous p.L228L c.684C>T 1 55638068 RCCC G A Synonymous p.S1138S c.3414C>T 1 55598341 LUAD G A Synonymous p.V2056V c.6168C>T 1 55560963 UCEC G C Missense p.A2404G c.7211C>G 1 55544314 LUSC G C Missense p.L1089V c.3265C>G 1 55600023 OV G C Missense p.L1414V c.4240C>G 1 55589156 CM G C Missense p.P223A c.667C>G 1 55638085 BLCA G C Missense p.P362A c.1084C>G 1 55624694 OV G C Missense p.T1872S c.5615C>G 1 55563371 LUSC G C Nonsense p.S1048* c.3143C>G 1 55603246 BRCA G C Synonymous p.L1175L c.3525C>G 1 55598230 HNSC G C Synonymous p.R1896R c.5688C>G 1 55563298 COREAD GT AA IntronicBlockSubstitution . c.6354+121_6354+122delinsTT 1 55559488 CM G T Missense p.P332H c.995C>A 1 55625357 UCEC T A Missense p.N1800Y c.5398A>T 1 55564204 UCEC T A Missense p.Q1736L c.5207A>T 1 55566576 LUAD T A Synonymous p.S486S c.1458A>T 1 55620440 LUSC T C Missense p.D239G c.716A>G 1 55637338 BRCA T C Missense p.E1027G c.3080A>G 1 55603309 OV T C Missense p.I1883V c.5647A>G 1 55563339 UCEC T C Missense p.I2326V c.6976A>G 1 55547097 RCCC T - Frameshift p.K2294Sfs*11 c.6881delA 1 55549446 ESCA - T Frameshift p.M899Nfs*19 c.2695dupA 1 55607344 LUSC T G Missense p.E600A c.1799A>C 1 55619805 RCCC T G Missense p.N2280H c.6838A>C 1 55549489 RCCC