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 4 89385092 89385092 + Silent SNP G G T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 g.chr4:89385092G>T c.867G>T c.(865-867)gtG>gtT p.V289V BLCA 4 89390350 89390350 + Missense_Mutation SNP G G A TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chr4:89390350G>A c.1177G>A c.(1177-1179)Gaa>Aaa p.E393K BLCA 4 89407344 89407344 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr4:89407344G>C c.1816G>C c.(1816-1818)Gaa>Caa p.E606Q BLCA 4 89410460 89410460 + Missense_Mutation SNP G G T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr4:89410460G>T c.2106G>T c.(2104-2106)gaG>gaT p.E702D BLCA 4 89414216 89414216 + Missense_Mutation SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr4:89414216C>A c.2187C>A c.(2185-2187)ttC>ttA p.F729L BLCA 4 89415386 89415386 + Frame_Shift_Del DEL T T - TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 g.chr4:89415386delT c.2348delT c.(2347-2349)gttfs p.V783fs BLCA 4 89415392 89415392 + Missense_Mutation SNP A A G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 g.chr4:89415392A>G c.2354A>G c.(2353-2355)aAc>aGc p.N785S BLCA 4 89426829 89426829 + Missense_Mutation SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr4:89426829C>A c.2875C>A c.(2875-2877)Ctt>Att p.L959I BRCA 4 89388332 89388332 + Nonsense_Mutation SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 g.chr4:89388332C>A c.1034C>A c.(1033-1035)tCa>tAa p.S345* BRCA 4 89388332 89388332 + Nonsense_Mutation SNP C C A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 g.chr4:89388332C>A c.1034C>A c.(1033-1035)tCa>tAa p.S345* BRCA 4 89410467 89410467 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr4:89410467G>C c.2113G>C c.(2113-2115)Gac>Cac p.D705H BRCA 4 89426971 89426971 + Missense_Mutation SNP T T C TCGA-AC-A3EH-01A-22D-A228-09 TCGA-AC-A3EH-11B-21D-A22A-09 g.chr4:89426971T>C c.3017T>C c.(3016-3018)aTg>aCg p.M1006T CESC 4 89407319 89407319 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr4:89407319C>G c.1791C>G c.(1789-1791)ctC>ctG p.L597L CESC 4 89408255 89408255 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr4:89408255C>G c.1887C>G c.(1885-1887)ttC>ttG p.F629L CESC 4 89421099 89421099 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr4:89421099G>A c.2467G>A c.(2467-2469)Gat>Aat p.D823N CESC 4 89425707 89425707 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr4:89425707C>G c.2828C>G c.(2827-2829)gCt>gGt p.A943G CESC 4 89426997 89426997 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 g.chr4:89426997G>A c.3043G>A c.(3043-3045)Gaa>Aaa p.E1015K COAD 4 89380622 89380622 + Splice_Site SNP G G T TCGA-AD-6965-01A-11D-1924-10 TCGA-AD-6965-10A-01D-1924-10 g.chr4:89380622G>T c.e2+1 COAD 4 89381272 89381272 + Missense_Mutation SNP A A T TCGA-CM-6675-01A-11D-1835-10 TCGA-CM-6675-10A-01D-1835-10 g.chr4:89381272A>T c.416A>T c.(415-417)aAa>aTa p.K139I COAD 4 89384749 89384749 + Missense_Mutation SNP G G A TCGA-AA-3982-01A-02W-0995-10 TCGA-AA-3982-10A-01W-0999-10 g.chr4:89384749G>A c.755G>A c.(754-756)gGc>gAc p.G252D COAD 4 89388242 89388242 + Missense_Mutation SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr4:89388242G>A c.944G>A c.(943-945)gGa>gAa p.G315E COAD 4 89390330 89390330 + Missense_Mutation SNP G G T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr4:89390330G>T c.1157G>T c.(1156-1158)aGg>aTg p.R386M COAD 4 89393635 89393635 + Missense_Mutation SNP G G T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr4:89393635G>T c.1374G>T c.(1372-1374)aaG>aaT p.K458N COAD 4 89397040 89397040 + Missense_Mutation SNP T T C TCGA-A6-5659-01A-01D-1650-10 TCGA-A6-5659-11A-01D-1650-10 g.chr4:89397040T>C c.1441T>C c.(1441-1443)Tct>Cct p.S481P COAD 4 89397040 89397040 + Missense_Mutation SNP T T C TCGA-D5-6926-01A-11D-1924-10 TCGA-D5-6926-10A-01D-1924-10 g.chr4:89397040T>C c.1441T>C c.(1441-1443)Tct>Cct p.S481P COAD 4 89397042 89397042 + Silent SNP T T C TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr4:89397042T>C c.1443T>C c.(1441-1443)tcT>tcC p.S481S COAD 4 89397042 89397042 + Silent SNP T T C TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr4:89397042T>C c.1443T>C c.(1441-1443)tcT>tcC p.S481S COAD 4 89397143 89397143 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:89397143T>G c.1544T>G c.(1543-1545)gTt>gGt p.V515G COAD 4 89407337 89407337 + Missense_Mutation SNP T T A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr4:89407337T>A c.1809T>A c.(1807-1809)ttT>ttA p.F603L COAD 4 89407374 89407374 + Missense_Mutation SNP A A G TCGA-A6-6649-01A-11D-1771-10 TCGA-A6-6649-10A-01D-1771-10 g.chr4:89407374A>G c.1846A>G c.(1846-1848)Act>Gct p.T616A COAD 4 89407376 89407376 + Silent SNP T T A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr4:89407376T>A c.1848T>A c.(1846-1848)acT>acA p.T616T COAD 4 89408246 89408246 + Silent SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr4:89408246C>T c.1878C>T c.(1876-1878)tgC>tgT p.C626C COAD 4 89408247 89408247 + Missense_Mutation SNP G G A TCGA-AA-3848-01A-01W-0900-09 TCGA-AA-3848-10A-01W-0900-09 g.chr4:89408247G>A c.1879G>A c.(1879-1881)Gtc>Atc p.V627I COAD 4 89415415 89415415 + Missense_Mutation SNP T T C TCGA-CK-5914-01A-11D-1650-10 TCGA-CK-5914-10A-01D-1650-10 g.chr4:89415415T>C c.2377T>C c.(2377-2379)Ttt>Ctt p.F793L COAD 4 89415460 89415460 + Nonsense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:89415460G>T c.2422G>T c.(2422-2424)Gaa>Taa p.E808* COAD 4 89425434 89425434 + Missense_Mutation SNP G G T TCGA-F4-6854-01A-11D-1924-10 TCGA-F4-6854-10A-01D-1924-10 g.chr4:89425434G>T c.2634G>T c.(2632-2634)aaG>aaT p.K878N COAD 4 89425437 89425437 + Silent SNP G G A TCGA-AA-3664-01A-01W-0900-09 TCGA-AA-3664-10A-01W-0900-09 g.chr4:89425437G>A c.2637G>A c.(2635-2637)gcG>gcA p.A879A COAD 4 89425453 89425453 + Missense_Mutation SNP C C T TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr4:89425453C>T c.2653C>T c.(2653-2655)Cgg>Tgg p.R885W COAD 4 89425454 89425454 + Missense_Mutation SNP G G T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr4:89425454G>T c.2654G>T c.(2653-2655)cGg>cTg p.R885L COAD 4 89425454 89425454 + Missense_Mutation SNP G G T TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr4:89425454G>T c.2654G>T c.(2653-2655)cGg>cTg p.R885L COAD 4 89425464 89425464 + Missense_Mutation SNP T T G TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr4:89425464T>G c.2664T>G c.(2662-2664)ttT>ttG p.F888L COADREAD 4 89380622 89380622 + Splice_Site SNP G G T TCGA-AD-6965-01A-11D-1924-10 TCGA-AD-6965-10A-01D-1924-10 g.chr4:89380622G>T c.e2+1 COADREAD 4 89381272 89381272 + Missense_Mutation SNP A A T TCGA-CM-6675-01A-11D-1835-10 TCGA-CM-6675-10A-01D-1835-10 g.chr4:89381272A>T c.416A>T c.(415-417)aAa>aTa p.K139I COADREAD 4 89384749 89384749 + Missense_Mutation SNP G G A TCGA-AA-3982-01A-02W-0995-10 TCGA-AA-3982-10A-01W-0999-10 g.chr4:89384749G>A c.755G>A c.(754-756)gGc>gAc p.G252D COADREAD 4 89388242 89388242 + Missense_Mutation SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr4:89388242G>A c.944G>A c.(943-945)gGa>gAa p.G315E COADREAD 4 89390330 89390330 + Missense_Mutation SNP G G T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr4:89390330G>T c.1157G>T c.(1156-1158)aGg>aTg p.R386M COADREAD 4 89393635 89393635 + Missense_Mutation SNP G G T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr4:89393635G>T c.1374G>T c.(1372-1374)aaG>aaT p.K458N COADREAD 4 89397040 89397040 + Missense_Mutation SNP T T C TCGA-A6-5659-01A-01D-1650-10 TCGA-A6-5659-11A-01D-1650-10 g.chr4:89397040T>C c.1441T>C c.(1441-1443)Tct>Cct p.S481P COADREAD 4 89397040 89397040 + Missense_Mutation SNP T T C TCGA-D5-6926-01A-11D-1924-10 TCGA-D5-6926-10A-01D-1924-10 g.chr4:89397040T>C c.1441T>C c.(1441-1443)Tct>Cct p.S481P COADREAD 4 89397042 89397042 + Silent SNP T T C TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr4:89397042T>C c.1443T>C c.(1441-1443)tcT>tcC p.S481S COADREAD 4 89397042 89397042 + Silent SNP T T C TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr4:89397042T>C c.1443T>C c.(1441-1443)tcT>tcC p.S481S COADREAD 4 89397143 89397143 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:89397143T>G c.1544T>G c.(1543-1545)gTt>gGt p.V515G COADREAD 4 89400527 89400527 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:89400527G>T c.1606G>T c.(1606-1608)Gaa>Taa p.E536* COADREAD 4 89407319 89407319 + Silent SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:89407319C>A c.1791C>A c.(1789-1791)ctC>ctA p.L597L COADREAD 4 89407337 89407337 + Missense_Mutation SNP T T A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr4:89407337T>A c.1809T>A c.(1807-1809)ttT>ttA p.F603L COADREAD 4 89407374 89407374 + Missense_Mutation SNP A A G TCGA-A6-6649-01A-11D-1771-10 TCGA-A6-6649-10A-01D-1771-10 g.chr4:89407374A>G c.1846A>G c.(1846-1848)Act>Gct p.T616A COADREAD 4 89407376 89407376 + Silent SNP T T A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr4:89407376T>A c.1848T>A c.(1846-1848)acT>acA p.T616T COADREAD 4 89408246 89408246 + Silent SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr4:89408246C>T c.1878C>T c.(1876-1878)tgC>tgT p.C626C COADREAD 4 89408247 89408247 + Missense_Mutation SNP G G A TCGA-AA-3848-01A-01W-0900-09 TCGA-AA-3848-10A-01W-0900-09 g.chr4:89408247G>A c.1879G>A c.(1879-1881)Gtc>Atc p.V627I COADREAD 4 89408265 89408265 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:89408265C>T c.1897C>T c.(1897-1899)Cca>Tca p.P633S COADREAD 4 89415415 89415415 + Missense_Mutation SNP T T C TCGA-CK-5914-01A-11D-1650-10 TCGA-CK-5914-10A-01D-1650-10 g.chr4:89415415T>C c.2377T>C c.(2377-2379)Ttt>Ctt p.F793L COADREAD 4 89415460 89415460 + Nonsense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:89415460G>T c.2422G>T c.(2422-2424)Gaa>Taa p.E808* COADREAD 4 89425434 89425434 + Missense_Mutation SNP G G T TCGA-F4-6854-01A-11D-1924-10 TCGA-F4-6854-10A-01D-1924-10 g.chr4:89425434G>T c.2634G>T c.(2632-2634)aaG>aaT p.K878N COADREAD 4 89425437 89425437 + Silent SNP G G A TCGA-AA-3664-01A-01W-0900-09 TCGA-AA-3664-10A-01W-0900-09 g.chr4:89425437G>A c.2637G>A c.(2635-2637)gcG>gcA p.A879A COADREAD 4 89425453 89425453 + Missense_Mutation SNP C C T TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr4:89425453C>T c.2653C>T c.(2653-2655)Cgg>Tgg p.R885W COADREAD 4 89425454 89425454 + Missense_Mutation SNP G G T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr4:89425454G>T c.2654G>T c.(2653-2655)cGg>cTg p.R885L COADREAD 4 89425454 89425454 + Missense_Mutation SNP G G T TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr4:89425454G>T c.2654G>T c.(2653-2655)cGg>cTg p.R885L COADREAD 4 89425454 89425454 + Missense_Mutation SNP G G T TCGA-G5-6235-01A-11D-1733-10 TCGA-G5-6235-10A-01D-1733-10 g.chr4:89425454G>T c.2654G>T c.(2653-2655)cGg>cTg p.R885L COADREAD 4 89425464 89425464 + Missense_Mutation SNP T T G TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr4:89425464T>G c.2664T>G c.(2662-2664)ttT>ttG p.F888L COADREAD 4 89425522 89425522 + Missense_Mutation SNP G G T TCGA-EI-6510-01A-11D-1733-10 TCGA-EI-6510-10A-01D-1733-10 g.chr4:89425522G>T c.2722G>T c.(2722-2724)Gtg>Ttg p.V908L DLBC 4 89380540 89380540 + Missense_Mutation SNP A A G TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr4:89380540A>G c.308A>G c.(307-309)gAc>gGc p.D103G DLBC 4 89427002 89427002 + Silent SNP C C T TCGA-FF-8042-01A-11D-2210-10 TCGA-FF-8042-10A-01D-2210-10 g.chr4:89427002C>T c.3048C>T c.(3046-3048)gcC>gcT p.A1016A GBMLGG 4 89407330 89407330 + Missense_Mutation SNP T T C TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 g.chr4:89407330T>C c.1802T>C c.(1801-1803)cTc>cCc p.L601P GBMLGG 4 89410380 89410380 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:89410380G>A c.2026G>A c.(2026-2028)Gct>Act p.A676T GBMLGG 4 89425652 89425652 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:89425652C>T c.2773C>T c.(2773-2775)Cgt>Tgt p.R925C HNSC 4 89378627 89378627 + Frame_Shift_Del DEL C C - TCGA-CQ-7072-01A-21D-A30E-08 TCGA-CQ-7072-10A-01D-A30H-08 g.chr4:89378627delC c.207delC c.(205-207)ggcfs p.G70fs HNSC 4 89400632 89400632 + Missense_Mutation SNP C C G TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chr4:89400632C>G c.1711C>G c.(1711-1713)Cta>Gta p.L571V HNSC 4 89407343 89407343 + Silent SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 g.chr4:89407343A>G c.1815A>G c.(1813-1815)gtA>gtG p.V605V HNSC 4 89407376 89407376 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr4:89407376T>C c.1848T>C c.(1846-1848)acT>acC p.T616T HNSC 4 89407377 89407377 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr4:89407377G>T c.1849G>T c.(1849-1851)Gtg>Ttg p.V617L HNSC 4 89414186 89414186 + Silent SNP G G A TCGA-CV-7242-01A-11D-2012-08 TCGA-CV-7242-10A-01D-2013-08 g.chr4:89414186G>A c.2157G>A c.(2155-2157)ggG>ggA p.G719G HNSC 4 89421102 89421102 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr4:89421102G>C c.2470G>C c.(2470-2472)Gaa>Caa p.E824Q HNSC 4 89426907 89426907 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 g.chr4:89426907G>A c.2953G>A c.(2953-2955)Gaa>Aaa p.E985K KICH 4 89380519 89380519 + Missense_Mutation SNP A A G TCGA-KL-8329-01A-11D-2310-10 TCGA-KL-8329-11A-01D-2310-10 g.chr4:89380519A>G c.287A>G c.(286-288)aAc>aGc p.N96S KICH 4 89408222 89408222 + Silent SNP C C T TCGA-KN-8430-01A-11D-2310-10 TCGA-KN-8430-11A-01D-2311-10 g.chr4:89408222C>T c.1854C>T c.(1852-1854)gaC>gaT p.D618D KIPAN 4 89380519 89380519 + Missense_Mutation SNP A A G TCGA-KL-8329-01A-11D-2310-10 TCGA-KL-8329-11A-01D-2310-10 g.chr4:89380519A>G c.287A>G c.(286-288)aAc>aGc p.N96S KIPAN 4 89383504 89383504 + Missense_Mutation SNP G G A TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 g.chr4:89383504G>A c.685G>A c.(685-687)Gag>Aag p.E229K KIPAN 4 89385020 89385020 + Missense_Mutation SNP T T G TCGA-B0-5075-01A-01D-1462-08 TCGA-B0-5075-11A-01D-1462-08 g.chr4:89385020T>G c.795T>G c.(793-795)ttT>ttG p.F265L KIPAN 4 89408222 89408222 + Silent SNP C C T TCGA-KN-8430-01A-11D-2310-10 TCGA-KN-8430-11A-01D-2311-10 g.chr4:89408222C>T c.1854C>T c.(1852-1854)gaC>gaT p.D618D KIPAN 4 89410409 89410409 + Silent SNP C C G TCGA-A4-7734-01A-11D-2136-08 TCGA-A4-7734-10A-01D-2136-08 g.chr4:89410409C>G c.2055C>G c.(2053-2055)gtC>gtG p.V685V KIPAN 4 89425491 89425491 + Silent SNP C C T TCGA-BP-5184-01A-01D-1429-08 TCGA-BP-5184-11A-01D-1429-08 g.chr4:89425491C>T c.2691C>T c.(2689-2691)atC>atT p.I897I KIRC 4 89383504 89383504 + Missense_Mutation SNP G G A TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 g.chr4:89383504G>A c.685G>A c.(685-687)Gag>Aag p.E229K KIRC 4 89385020 89385020 + Missense_Mutation SNP T T G TCGA-B0-5075-01A-01D-1462-08 TCGA-B0-5075-11A-01D-1462-08 g.chr4:89385020T>G c.795T>G c.(793-795)ttT>ttG p.F265L KIRC 4 89425491 89425491 + Silent SNP C C T TCGA-BP-5184-01A-01D-1429-08 TCGA-BP-5184-11A-01D-1429-08 g.chr4:89425491C>T c.2691C>T c.(2689-2691)atC>atT p.I897I KIRP 4 89410409 89410409 + Silent SNP C C G TCGA-A4-7734-01A-11D-2136-08 TCGA-A4-7734-10A-01D-2136-08 g.chr4:89410409C>G c.2055C>G c.(2053-2055)gtC>gtG p.V685V LGG 4 89407330 89407330 + Missense_Mutation SNP T T C TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 g.chr4:89407330T>C c.1802T>C c.(1801-1803)cTc>cCc p.L601P LGG 4 89410380 89410380 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:89410380G>A c.2026G>A c.(2026-2028)Gct>Act p.A676T LGG 4 89425652 89425652 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:89425652C>T c.2773C>T c.(2773-2775)Cgt>Tgt p.R925C LIHC 4 89397168 89397168 + Silent SNP T T C TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr4:89397168T>C c.1569T>C c.(1567-1569)tcT>tcC p.S523S LIHC 4 89407334 89407334 + Frame_Shift_Del DEL T T - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr4:89407334delT c.1806delT c.(1804-1806)aatfs p.N602fs LUAD 4 89380600 89380600 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr4:89380600A>G c.368A>G c.(367-369)aAc>aGc p.N123S LUAD 4 89383387 89383387 + Missense_Mutation SNP G G C TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr4:89383387G>C c.568G>C c.(568-570)Gga>Cga p.G190R LUAD 4 89383390 89383390 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr4:89383390G>C c.571G>C c.(571-573)Gta>Cta p.V191L LUAD 4 89408247 89408247 + Missense_Mutation SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 g.chr4:89408247G>A c.1879G>A c.(1879-1881)Gtc>Atc p.V627I LUAD 4 89410315 89410315 + Splice_Site SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr4:89410315A>G c.e16-1 LUAD 4 89410318 89410318 + Splice_Site SNP G G C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 g.chr4:89410318G>C c.1964G>C c.(1963-1965)aGt>aCt p.S655T LUAD 4 89410360 89410363 + Frame_Shift_Del DEL AAGA AAGA - TCGA-97-7937-01A-11D-2167-08 TCGA-97-7937-10A-01D-2167-08 g.chr4:89410360_89410363delAAGA c.2006_2009delAAGA c.(2005-2010)gaagaafs p.EE669fs LUAD 4 89414161 89414161 + Splice_Site SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 g.chr4:89414161A>T c.e17-1 LUAD 4 89415467 89415467 + Missense_Mutation SNP G G C TCGA-50-6594-01A-11D-1753-08 TCGA-50-6594-11A-01D-1753-08 g.chr4:89415467G>C c.2429G>C c.(2428-2430)aGt>aCt p.S810T LUAD 4 89425423 89425423 + Missense_Mutation SNP G G C TCGA-MP-A4TI-01A-21D-A24P-08 TCGA-MP-A4TI-10A-01D-A24P-08 g.chr4:89425423G>C c.2623G>C c.(2623-2625)Gac>Cac p.D875H LUSC 4 89383489 89383489 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr4:89383489G>A c.670G>A c.(670-672)Ggc>Agc p.G224S LUSC 4 89385004 89385004 + Splice_Site SNP A A G TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 g.chr4:89385004A>G c.e6-1 LUSC 4 89397178 89397178 + Missense_Mutation SNP C C A TCGA-51-4079-01A-01D-1458-08 TCGA-51-4079-11A-01D-1458-08 g.chr4:89397178C>A c.1579C>A c.(1579-1581)Ctg>Atg p.L527M LUSC 4 89400515 89400515 + Missense_Mutation SNP G G A TCGA-66-2768-01A-01D-1522-08 TCGA-66-2768-11A-01D-1522-08 g.chr4:89400515G>A c.1594G>A c.(1594-1596)Gca>Aca p.A532T LUSC 4 89400577 89400577 + Nonsense_Mutation SNP C C A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 g.chr4:89400577C>A c.1656C>A c.(1654-1656)tgC>tgA p.C552* LUSC 4 89425483 89425483 + Missense_Mutation SNP G G C TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 g.chr4:89425483G>C c.2683G>C c.(2683-2685)Gac>Cac p.D895H LUSC 4 89427028 89427028 + Nonstop_Mutation SNP G G T TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 g.chr4:89427028G>T c.3074G>T c.(3073-3075)tGa>tTa p.*1025L OV 4 89397041 89397041 + Missense_Mutation SNP C C T TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 g.chr4:89397041C>T c.1442C>T c.(1441-1443)tCt>tTt p.S481F OV 4 89407376 89407376 + Silent SNP T T C TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 g.chr4:89407376T>C c.1848T>C c.(1846-1848)acT>acC p.T616T OV 4 89415416 89415416 + Missense_Mutation SNP T T G TCGA-13-0923-01A-01W-0420-08 TCGA-13-0923-10A-01D-0399-08 g.chr4:89415416T>G c.2378T>G c.(2377-2379)tTt>tGt p.F793C OV 4 89425453 89425453 + Missense_Mutation SNP C C T TCGA-24-0979-01A-01W-0486-08 TCGA-24-0979-10B-01W-0486-08 g.chr4:89425453C>T c.2653C>T c.(2653-2655)Cgg>Tgg p.R885W PAAD 4 89381265 89381266 + Frame_Shift_Ins INS - - A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 g.chr4:89381265_89381266insA c.409_410insA c.(409-411)gaafs p.E137fs PAAD 4 89381265 89381266 + Frame_Shift_Ins INS - - A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 g.chr4:89381265_89381266insA c.409_410insA c.(409-411)gaafs p.E137fs PAAD 4 89381265 89381266 + Frame_Shift_Ins INS - - A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr4:89381265_89381266insA c.409_410insA c.(409-411)gaafs p.E137fs PAAD 4 89381265 89381266 + Frame_Shift_Ins INS - - A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 g.chr4:89381265_89381266insA c.409_410insA c.(409-411)gaafs p.E137fs PAAD 4 89381265 89381266 + Frame_Shift_Ins INS - - A TCGA-XD-AAUH-01A-42D-A40W-08 TCGA-XD-AAUH-11A-11D-A40W-08 g.chr4:89381265_89381266insA c.409_410insA c.(409-411)gaafs p.E137fs PAAD 4 89389501 89389501 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:89389501C>T c.1062C>T c.(1060-1062)agC>agT p.S354S PAAD 4 89414249 89414249 + Silent SNP G G A TCGA-YY-A8LH-01A-11D-A36O-08 TCGA-YY-A8LH-10A-01D-A367-08 g.chr4:89414249G>A c.2220G>A c.(2218-2220)ccG>ccA p.P740P PAAD 4 89425454 89425454 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:89425454G>A c.2654G>A c.(2653-2655)cGg>cAg p.R885Q PAAD 4 89426989 89426989 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:89426989C>T c.3035C>T c.(3034-3036)gCg>gTg p.A1012V PRAD 4 89415467 89415467 + Missense_Mutation SNP G G T TCGA-G9-6370-01A-11D-1786-08 TCGA-G9-6370-10A-01D-1786-08 g.chr4:89415467G>T c.2429G>T c.(2428-2430)aGt>aTt p.S810I READ 4 89400527 89400527 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:89400527G>T c.1606G>T c.(1606-1608)Gaa>Taa p.E536* READ 4 89407319 89407319 + Silent SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:89407319C>A c.1791C>A c.(1789-1791)ctC>ctA p.L597L READ 4 89408265 89408265 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:89408265C>T c.1897C>T c.(1897-1899)Cca>Tca p.P633S READ 4 89425454 89425454 + Missense_Mutation SNP G G T TCGA-G5-6235-01A-11D-1733-10 TCGA-G5-6235-10A-01D-1733-10 g.chr4:89425454G>T c.2654G>T c.(2653-2655)cGg>cTg p.R885L READ 4 89425522 89425522 + Missense_Mutation SNP G G T TCGA-EI-6510-01A-11D-1733-10 TCGA-EI-6510-10A-01D-1733-10 g.chr4:89425522G>T c.2722G>T c.(2722-2724)Gtg>Ttg p.V908L SARC 4 89385033 89385033 + Missense_Mutation SNP G G C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr4:89385033G>C c.808G>C c.(808-810)Gga>Cga p.G270R SKCM 4 89378622 89378622 + Missense_Mutation SNP C C T TCGA-D3-A2J7-06A-11D-A196-08 TCGA-D3-A2J7-10A-01D-A198-08 g.chr4:89378622C>T c.202C>T c.(202-204)Cgc>Tgc p.R68C SKCM 4 89381275 89381275 + Missense_Mutation SNP T T A TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chr4:89381275T>A c.419T>A c.(418-420)aTa>aAa p.I140K SKCM 4 89384698 89384698 + Missense_Mutation SNP C C T TCGA-D3-A3C8-06A-12D-A19A-08 TCGA-D3-A3C8-10A-01D-A19A-08 g.chr4:89384698C>T c.704C>T c.(703-705)tCc>tTc p.S235F SKCM 4 89384699 89384699 + Silent SNP C C T TCGA-EE-A29P-06A-11D-A197-08 TCGA-EE-A29P-10A-01D-A199-08 g.chr4:89384699C>T c.705C>T c.(703-705)tcC>tcT p.S235S SKCM 4 89384700 89384700 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr4:89384700C>T c.706C>T c.(706-708)Ctt>Ttt p.L236F SKCM 4 89389521 89389521 + Nonsense_Mutation SNP T T A TCGA-D3-A3MU-06A-11D-A21A-08 TCGA-D3-A3MU-10A-01D-A21A-08 g.chr4:89389521T>A c.1082T>A c.(1081-1083)tTa>tAa p.L361* SKCM 4 89390312 89390312 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr4:89390312C>T c.1139C>T c.(1138-1140)tCa>tTa p.S380L SKCM 4 89390338 89390338 + Missense_Mutation SNP C C T TCGA-EE-A185-06A-11D-A196-08 TCGA-EE-A185-10A-01D-A198-08 g.chr4:89390338C>T c.1165C>T c.(1165-1167)Cct>Tct p.P389S SKCM 4 89390350 89390350 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr4:89390350G>A c.1177G>A c.(1177-1179)Gaa>Aaa p.E393K SKCM 4 89393580 89393580 + Missense_Mutation SNP C C A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr4:89393580C>A c.1319C>A c.(1318-1320)cCt>cAt p.P440H SKCM 4 89414189 89414189 + Nonsense_Mutation SNP T T A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr4:89414189T>A c.2160T>A c.(2158-2160)taT>taA p.Y720* SKCM 4 89421091 89421091 + Missense_Mutation SNP T T A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr4:89421091T>A c.2459T>A c.(2458-2460)cTt>cAt p.L820H

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 4 89385068 89385068 single base substitution G C downstream_gene_variant BLCA-CN 4 89385068 89385068 single base substitution G C missense_variant Q281H 843G>C BLCA-CN 4 89385068 89385068 single base substitution G C upstream_gene_variant BLCA-CN 4 89410366 89410366 single base substitution G C exon_variant BLCA-CN 4 89410366 89410366 single base substitution G C missense_variant R309T 926G>C BLCA-CN 4 89410366 89410366 single base substitution G C missense_variant R671T 2012G>C BLCA-US 4 89385092 89385092 single base substitution G T downstream_gene_variant BLCA-US 4 89385092 89385092 single base substitution G T synonymous_variant V289V 867G>T BLCA-US 4 89385092 89385092 single base substitution G T upstream_gene_variant BLCA-US 4 89415386 89415386 deletion of <=200bp T - exon_variant BLCA-US 4 89415386 89415386 deletion of <=200bp T - frameshift_variant V421 BLCA-US 4 89415386 89415386 deletion of <=200bp T - frameshift_variant V783 BRCA-EU 4 89375288 89375288 deletion of <=200bp T - upstream_gene_variant BRCA-EU 4 89375656 89375656 single base substitution G A upstream_gene_variant BRCA-EU 4 89375795 89375795 single base substitution C T upstream_gene_variant BRCA-EU 4 89375991 89375991 single base substitution G A upstream_gene_variant BRCA-EU 4 89376657 89376657 single base substitution C A upstream_gene_variant BRCA-EU 4 89377587 89377587 single base substitution G A upstream_gene_variant BRCA-EU 4 89382946 89382946 single base substitution T C intron_variant BRCA-EU 4 89384691 89384691 single base substitution G C downstream_gene_variant BRCA-EU 4 89384691 89384691 single base substitution G C missense_variant D233H 697G>C BRCA-EU 4 89384691 89384691 single base substitution G C upstream_gene_variant BRCA-EU 4 89385931 89385931 deletion of <=200bp T - downstream_gene_variant BRCA-EU 4 89385931 89385931 deletion of <=200bp T - intron_variant BRCA-EU 4 89385931 89385931 deletion of <=200bp T - upstream_gene_variant BRCA-EU 4 89386237 89386237 single base substitution T C downstream_gene_variant BRCA-EU 4 89386237 89386237 single base substitution T C intron_variant BRCA-EU 4 89386237 89386237 single base substitution T C upstream_gene_variant BRCA-EU 4 89387403 89387403 single base substitution T A downstream_gene_variant BRCA-EU 4 89387403 89387403 single base substitution T A intron_variant BRCA-EU 4 89387403 89387403 single base substitution T A upstream_gene_variant BRCA-EU 4 89387821 89387821 insertion of <=200bp - A downstream_gene_variant BRCA-EU 4 89387821 89387821 insertion of <=200bp - A intron_variant BRCA-EU 4 89387821 89387821 insertion of <=200bp - A upstream_gene_variant BRCA-EU 4 89388010 89388010 single base substitution C T downstream_gene_variant BRCA-EU 4 89388010 89388010 single base substitution C T intron_variant BRCA-EU 4 89388010 89388010 single base substitution C T upstream_gene_variant BRCA-EU 4 89391195 89391195 single base substitution G C intron_variant BRCA-EU 4 89391195 89391195 single base substitution G C upstream_gene_variant BRCA-EU 4 89391364 89391364 single base substitution A C intron_variant BRCA-EU 4 89391364 89391364 single base substitution A C upstream_gene_variant BRCA-EU 4 89391879 89391879 single base substitution A G intron_variant BRCA-EU 4 89391879 89391879 single base substitution A G upstream_gene_variant BRCA-EU 4 89392555 89392555 single base substitution G A intron_variant BRCA-EU 4 89392555 89392555 single base substitution G A upstream_gene_variant BRCA-EU 4 89392887 89392887 single base substitution G C intron_variant BRCA-EU 4 89392887 89392887 single base substitution G C upstream_gene_variant BRCA-EU 4 89393049 89393049 single base substitution G A intron_variant BRCA-EU 4 89393049 89393049 single base substitution G A upstream_gene_variant BRCA-EU 4 89393535 89393538 deletion of <=200bp TACT - intron_variant BRCA-EU 4 89393535 89393538 deletion of <=200bp TACT - upstream_gene_variant BRCA-EU 4 89394755 89394755 single base substitution C A exon_variant BRCA-EU 4 89394755 89394755 single base substitution C A intron_variant BRCA-EU 4 89394977 89394977 single base substitution T G exon_variant BRCA-EU 4 89394977 89394977 single base substitution T G intron_variant BRCA-EU 4 89395503 89395503 single base substitution A T intron_variant BRCA-EU 4 89396316 89396316 single base substitution C G intron_variant BRCA-EU 4 89396582 89396582 single base substitution G T intron_variant BRCA-EU 4 89397280 89397280 insertion of <=200bp - T intron_variant BRCA-EU 4 89397585 89397585 single base substitution T G intron_variant BRCA-EU 4 89399684 89399684 single base substitution G C intron_variant BRCA-EU 4 89400658 89400658 single base substitution G A splice_region_variant BRCA-EU 4 89400663 89400663 single base substitution G A splice_region_variant BRCA-EU 4 89404629 89404629 single base substitution G T intron_variant BRCA-EU 4 89404876 89404876 single base substitution C T intron_variant BRCA-EU 4 89405702 89405702 single base substitution T G intron_variant BRCA-EU 4 89407334 89407334 deletion of <=200bp T - exon_variant BRCA-EU 4 89407334 89407334 deletion of <=200bp T - frameshift_variant N240 BRCA-EU 4 89407334 89407334 deletion of <=200bp T - frameshift_variant N602 BRCA-EU 4 89408326 89408326 single base substitution T C exon_variant BRCA-EU 4 89408326 89408326 single base substitution T C missense_variant I291T 872T>C BRCA-EU 4 89408326 89408326 single base substitution T C missense_variant I653T 1958T>C BRCA-EU 4 89409860 89409860 single base substitution T A intron_variant BRCA-EU 4 89411031 89411031 single base substitution G C intron_variant BRCA-EU 4 89413558 89413558 single base substitution G T intron_variant BRCA-EU 4 89413830 89413830 single base substitution G A intron_variant BRCA-EU 4 89414542 89414542 single base substitution A C intron_variant BRCA-EU 4 89418148 89418148 single base substitution G A intron_variant BRCA-EU 4 89418605 89418605 single base substitution A T intron_variant BRCA-EU 4 89418998 89418998 single base substitution G A intron_variant BRCA-EU 4 89419996 89419996 single base substitution A G intron_variant BRCA-EU 4 89421659 89421659 single base substitution C T intron_variant BRCA-EU 4 89422767 89422767 single base substitution T C intron_variant BRCA-EU 4 89423021 89423021 single base substitution C T intron_variant BRCA-EU 4 89423113 89423113 single base substitution C A intron_variant BRCA-EU 4 89424124 89424124 single base substitution A G intron_variant BRCA-EU 4 89424228 89424228 single base substitution C T intron_variant BRCA-EU 4 89425422 89425422 single base substitution C T exon_variant BRCA-EU 4 89425422 89425422 single base substitution C T synonymous_variant N512N 1536C>T BRCA-EU 4 89425422 89425422 single base substitution C T synonymous_variant N874N 2622C>T BRCA-EU 4 89425887 89425889 deletion of <=200bp CAA - intron_variant BRCA-EU 4 89426475 89426475 single base substitution C T intron_variant BRCA-EU 4 89428359 89428359 single base substitution C G downstream_gene_variant BRCA-EU 4 89428562 89428562 single base substitution G C downstream_gene_variant BRCA-EU 4 89429093 89429093 single base substitution G C downstream_gene_variant BRCA-EU 4 89430451 89430451 single base substitution G T downstream_gene_variant BRCA-EU 4 89431450 89431450 single base substitution G A downstream_gene_variant BRCA-FR 4 89375245 89375245 single base substitution G C upstream_gene_variant BRCA-FR 4 89395910 89395910 single base substitution C G intron_variant BRCA-FR 4 89413830 89413830 single base substitution G A intron_variant BRCA-FR 4 89424124 89424124 single base substitution A G intron_variant BRCA-FR 4 89427595 89427595 single base substitution C T downstream_gene_variant BRCA-UK 4 89380607 89380607 single base substitution C A exon_variant BRCA-UK 4 89380607 89380607 single base substitution C A missense_variant S125R 375C>A BRCA-UK 4 89407311 89407311 single base substitution G C exon_variant BRCA-UK 4 89407311 89407311 single base substitution G C missense_variant D233H 697G>C BRCA-UK 4 89407311 89407311 single base substitution G C missense_variant D595H 1783G>C BRCA-US 4 89388332 89388332 single base substitution C A downstream_gene_variant BRCA-US 4 89388332 89388332 single base substitution C A stop_gained S345* 1034C>A BRCA-US 4 89388332 89388332 single base substitution C A upstream_gene_variant BRCA-US 4 89410467 89410467 single base substitution G C exon_variant BRCA-US 4 89410467 89410467 single base substitution G C missense_variant D343H 1027G>C BRCA-US 4 89410467 89410467 single base substitution G C missense_variant D705H 2113G>C BTCA-JP 4 89384539 89384539 single base substitution C A downstream_gene_variant BTCA-JP 4 89384539 89384539 single base substitution C A intron_variant BTCA-JP 4 89384539 89384539 single base substitution C A upstream_gene_variant BTCA-JP 4 89384666 89384666 insertion of <=200bp - T downstream_gene_variant BTCA-JP 4 89384666 89384666 insertion of <=200bp - T intron_variant BTCA-JP 4 89384666 89384666 insertion of <=200bp - T upstream_gene_variant BTCA-JP 4 89388195 89388195 single base substitution G A downstream_gene_variant BTCA-JP 4 89388195 89388195 single base substitution G A intron_variant BTCA-JP 4 89388195 89388195 single base substitution G A upstream_gene_variant CESC-US 4 89407319 89407319 single base substitution C G exon_variant CESC-US 4 89407319 89407319 single base substitution C G synonymous_variant L235L 705C>G CESC-US 4 89407319 89407319 single base substitution C G synonymous_variant L597L 1791C>G CESC-US 4 89408255 89408255 single base substitution C G exon_variant CESC-US 4 89408255 89408255 single base substitution C G missense_variant F267L 801C>G CESC-US 4 89408255 89408255 single base substitution C G missense_variant F629L 1887C>G CESC-US 4 89421099 89421099 single base substitution G A exon_variant CESC-US 4 89421099 89421099 single base substitution G A missense_variant D461N 1381G>A CESC-US 4 89421099 89421099 single base substitution G A missense_variant D823N 2467G>A CESC-US 4 89425707 89425707 single base substitution C G exon_variant CESC-US 4 89425707 89425707 single base substitution C G missense_variant A581G 1742C>G CESC-US 4 89425707 89425707 single base substitution C G missense_variant A943G 2828C>G CESC-US 4 89426997 89426997 single base substitution G A exon_variant CESC-US 4 89426997 89426997 single base substitution G A missense_variant E1015K 3043G>A CESC-US 4 89426997 89426997 single base substitution G A missense_variant E653K 1957G>A CLLE-ES 4 89382788 89382788 single base substitution A T intron_variant CLLE-ES 4 89417389 89417390 deletion of <=200bp TC - intron_variant COAD-US 4 89380622 89380622 single base substitution G T splice_donor_variant COAD-US 4 89381272 89381272 single base substitution A T exon_variant COAD-US 4 89381272 89381272 single base substitution A T missense_variant K139I 416A>T COAD-US 4 89388242 89388242 single base substitution G A downstream_gene_variant COAD-US 4 89388242 89388242 single base substitution G A missense_variant G315E 944G>A COAD-US 4 89388242 89388242 single base substitution G A upstream_gene_variant COAD-US 4 89397091 89397091 single base substitution A G exon_variant COAD-US 4 89397091 89397091 single base substitution A G missense_variant M136V 406A>G COAD-US 4 89397091 89397091 single base substitution A G missense_variant M498V 1492A>G COAD-US 4 89407337 89407337 single base substitution T A exon_variant COAD-US 4 89407337 89407337 single base substitution T A missense_variant F241L 723T>A COAD-US 4 89407337 89407337 single base substitution T A missense_variant F603L 1809T>A COAD-US 4 89425422 89425422 single base substitution C T exon_variant COAD-US 4 89425422 89425422 single base substitution C T synonymous_variant N512N 1536C>T COAD-US 4 89425422 89425422 single base substitution C T synonymous_variant N874N 2622C>T COAD-US 4 89425434 89425434 single base substitution G T exon_variant COAD-US 4 89425434 89425434 single base substitution G T missense_variant K516N 1548G>T COAD-US 4 89425434 89425434 single base substitution G T missense_variant K878N 2634G>T COAD-US 4 89425464 89425464 single base substitution T G exon_variant COAD-US 4 89425464 89425464 single base substitution T G missense_variant F526L 1578T>G COAD-US 4 89425464 89425464 single base substitution T G missense_variant F888L 2664T>G COCA-CN 4 89378551 89378551 single base substitution G A missense_variant R44H 131G>A COCA-CN 4 89378551 89378551 single base substitution G A upstream_gene_variant COCA-CN 4 89384895 89384895 single base substitution T G downstream_gene_variant COCA-CN 4 89384895 89384895 single base substitution T G intron_variant COCA-CN 4 89384895 89384895 single base substitution T G upstream_gene_variant COCA-CN 4 89384967 89384967 single base substitution T C downstream_gene_variant COCA-CN 4 89384967 89384967 single base substitution T C intron_variant COCA-CN 4 89384967 89384967 single base substitution T C upstream_gene_variant COCA-CN 4 89390312 89390312 single base substitution C A stop_gained S18* 53C>A COCA-CN 4 89390312 89390312 single base substitution C A stop_gained S380* 1139C>A COCA-CN 4 89390312 89390312 single base substitution C A upstream_gene_variant COCA-CN 4 89400468 89400468 single base substitution A T intron_variant COCA-CN 4 89415420 89415420 single base substitution G T exon_variant COCA-CN 4 89415420 89415420 single base substitution G T missense_variant K432N 1296G>T COCA-CN 4 89415420 89415420 single base substitution G T missense_variant K794N 2382G>T COCA-CN 4 89415460 89415460 single base substitution G T exon_variant COCA-CN 4 89415460 89415460 single base substitution G T stop_gained E446* 1336G>T COCA-CN 4 89415460 89415460 single base substitution G T stop_gained E808* 2422G>T COCA-CN 4 89425453 89425453 single base substitution C T exon_variant COCA-CN 4 89425453 89425453 single base substitution C T missense_variant R523W 1567C>T COCA-CN 4 89425453 89425453 single base substitution C T missense_variant R885W 2653C>T COCA-CN 4 89425671 89425671 single base substitution A G exon_variant COCA-CN 4 89425671 89425671 single base substitution A G missense_variant N569S 1706A>G COCA-CN 4 89425671 89425671 single base substitution A G missense_variant N931S 2792A>G COCA-CN 4 89430438 89430438 single base substitution T C downstream_gene_variant ESAD-UK 4 89373458 89373458 single base substitution C A upstream_gene_variant ESAD-UK 4 89373469 89373469 single base substitution T A upstream_gene_variant ESAD-UK 4 89374496 89374496 single base substitution G C upstream_gene_variant ESAD-UK 4 89374749 89374749 single base substitution A C upstream_gene_variant ESAD-UK 4 89376480 89376480 single base substitution T A upstream_gene_variant ESAD-UK 4 89377799 89377799 single base substitution A C upstream_gene_variant ESAD-UK 4 89378210 89378210 single base substitution G A upstream_gene_variant ESAD-UK 4 89379254 89379254 single base substitution T A intron_variant ESAD-UK 4 89379254 89379254 single base substitution T A splice_region_variant ESAD-UK 4 89379446 89379446 single base substitution A C intron_variant ESAD-UK 4 89388541 89388541 single base substitution C T intron_variant ESAD-UK 4 89388541 89388541 single base substitution C T upstream_gene_variant ESAD-UK 4 89392358 89392358 single base substitution C A intron_variant ESAD-UK 4 89392358 89392358 single base substitution C A upstream_gene_variant ESAD-UK 4 89394610 89394610 single base substitution C T exon_variant ESAD-UK 4 89394610 89394610 single base substitution C T intron_variant ESAD-UK 4 89395053 89395053 single base substitution A G intron_variant ESAD-UK 4 89395146 89395146 single base substitution G T intron_variant ESAD-UK 4 89397563 89397563 single base substitution C G intron_variant ESAD-UK 4 89399918 89399918 single base substitution C T intron_variant ESAD-UK 4 89400892 89400892 insertion of <=200bp - A intron_variant ESAD-UK 4 89400983 89400983 deletion of <=200bp C - intron_variant ESAD-UK 4 89401597 89401597 single base substitution T G intron_variant ESAD-UK 4 89402049 89402049 single base substitution C T intron_variant ESAD-UK 4 89402217 89402217 single base substitution G T intron_variant ESAD-UK 4 89402781 89402781 single base substitution G A intron_variant ESAD-UK 4 89404192 89404192 single base substitution G A intron_variant ESAD-UK 4 89405254 89405254 single base substitution T G intron_variant ESAD-UK 4 89405610 89405610 single base substitution A G intron_variant ESAD-UK 4 89405762 89405762 single base substitution A C intron_variant ESAD-UK 4 89406004 89406004 single base substitution A C intron_variant ESAD-UK 4 89406147 89406147 single base substitution C T intron_variant ESAD-UK 4 89408601 89408601 single base substitution G T intron_variant ESAD-UK 4 89410196 89410196 single base substitution T C intron_variant ESAD-UK 4 89412279 89412279 single base substitution C A intron_variant ESAD-UK 4 89413384 89413384 single base substitution A G intron_variant ESAD-UK 4 89415375 89415375 single base substitution C A exon_variant ESAD-UK 4 89415375 89415375 single base substitution C A missense_variant F417L 1251C>A ESAD-UK 4 89415375 89415375 single base substitution C A missense_variant F779L 2337C>A ESAD-UK 4 89416347 89416347 single base substitution A C intron_variant ESAD-UK 4 89417721 89417721 deletion of <=200bp A - intron_variant ESAD-UK 4 89422722 89422722 single base substitution C T intron_variant ESAD-UK 4 89425436 89425436 single base substitution C T exon_variant ESAD-UK 4 89425436 89425436 single base substitution C T missense_variant A517V 1550C>T ESAD-UK 4 89425436 89425436 single base substitution C T missense_variant A879V 2636C>T ESAD-UK 4 89425845 89425845 single base substitution T C intron_variant ESAD-UK 4 89427160 89427160 single base substitution C G 3_prime_UTR_variant ESAD-UK 4 89427160 89427160 single base substitution C G downstream_gene_variant ESAD-UK 4 89427160 89427160 single base substitution C G exon_variant ESAD-UK 4 89427175 89427175 single base substitution A G 3_prime_UTR_variant ESAD-UK 4 89427175 89427175 single base substitution A G downstream_gene_variant ESAD-UK 4 89427175 89427175 single base substitution A G exon_variant ESAD-UK 4 89428051 89428051 single base substitution C G downstream_gene_variant ESAD-UK 4 89429902 89429902 single base substitution C T downstream_gene_variant ESAD-UK 4 89430903 89430903 single base substitution C T downstream_gene_variant KIRC-US 4 89385020 89385020 single base substitution T G downstream_gene_variant KIRC-US 4 89385020 89385020 single base substitution T G missense_variant F265L 795T>G KIRC-US 4 89385020 89385020 single base substitution T G upstream_gene_variant KIRC-US 4 89425491 89425491 single base substitution C T exon_variant KIRC-US 4 89425491 89425491 single base substitution C T synonymous_variant I535I 1605C>T KIRC-US 4 89425491 89425491 single base substitution C T synonymous_variant I897I 2691C>T KIRP-US 4 89410409 89410409 single base substitution C G exon_variant KIRP-US 4 89410409 89410409 single base substitution C G synonymous_variant V323V 969C>G KIRP-US 4 89410409 89410409 single base substitution C G synonymous_variant V685V 2055C>G LAML-KR 4 89398730 89398730 single base substitution T G intron_variant LAML-KR 4 89400454 89400454 single base substitution G A intron_variant LICA-CN 4 89383288 89383288 single base substitution G A missense_variant G157S 469G>A LICA-CN 4 89383288 89383288 single base substitution G A splice_region_variant LICA-FR 4 89382939 89382939 single base substitution T C intron_variant LICA-FR 4 89384746 89384746 single base substitution G A downstream_gene_variant LICA-FR 4 89384746 89384746 single base substitution G A missense_variant G251D 752G>A LICA-FR 4 89384746 89384746 single base substitution G A upstream_gene_variant LICA-FR 4 89394073 89394073 insertion of <=200bp - T intron_variant LICA-FR 4 89394073 89394073 insertion of <=200bp - T upstream_gene_variant LICA-FR 4 89400460 89400460 single base substitution T A intron_variant LICA-FR 4 89407327 89407327 single base substitution G A exon_variant LICA-FR 4 89407327 89407327 single base substitution G A missense_variant R238H 713G>A LICA-FR 4 89407327 89407327 single base substitution G A missense_variant R600H 1799G>A LICA-FR 4 89421132 89421132 single base substitution A G exon_variant LICA-FR 4 89421132 89421132 single base substitution A G missense_variant I472V 1414A>G LICA-FR 4 89421132 89421132 single base substitution A G missense_variant I834V 2500A>G LINC-JP 4 89373394 89373394 single base substitution A G upstream_gene_variant LINC-JP 4 89380783 89380783 single base substitution G C intron_variant LINC-JP 4 89383587 89383587 single base substitution G A downstream_gene_variant LINC-JP 4 89383587 89383587 single base substitution G A intron_variant LINC-JP 4 89394073 89394073 deletion of <=200bp T - intron_variant LINC-JP 4 89394073 89394073 deletion of <=200bp T - upstream_gene_variant LINC-JP 4 89395766 89395766 single base substitution C T intron_variant LINC-JP 4 89420979 89420979 single base substitution T C intron_variant LINC-JP 4 89423522 89423522 single base substitution G A intron_variant LINC-JP 4 89428796 89428796 single base substitution C A downstream_gene_variant LIRI-JP 4 89374603 89374603 single base substitution G A upstream_gene_variant LIRI-JP 4 89374768 89374768 single base substitution T C upstream_gene_variant LIRI-JP 4 89379348 89379348 single base substitution A G intron_variant LIRI-JP 4 89382543 89382543 single base substitution A G intron_variant LIRI-JP 4 89382579 89382579 single base substitution T A intron_variant LIRI-JP 4 89382800 89382800 single base substitution A T intron_variant LIRI-JP 4 89387922 89387922 single base substitution T A downstream_gene_variant LIRI-JP 4 89387922 89387922 single base substitution T A intron_variant LIRI-JP 4 89387922 89387922 single base substitution T A upstream_gene_variant LIRI-JP 4 89388051 89388051 single base substitution T C downstream_gene_variant LIRI-JP 4 89388051 89388051 single base substitution T C intron_variant LIRI-JP 4 89388051 89388051 single base substitution T C upstream_gene_variant LIRI-JP 4 89388913 89388913 single base substitution G T intron_variant LIRI-JP 4 89388913 89388913 single base substitution G T upstream_gene_variant LIRI-JP 4 89388914 89388914 single base substitution G T intron_variant LIRI-JP 4 89388914 89388914 single base substitution G T upstream_gene_variant LIRI-JP 4 89389858 89389858 single base substitution A G intron_variant LIRI-JP 4 89389858 89389858 single base substitution A G upstream_gene_variant LIRI-JP 4 89398156 89398156 single base substitution A G intron_variant LIRI-JP 4 89399158 89399158 single base substitution T C intron_variant LIRI-JP 4 89401875 89401875 single base substitution A G intron_variant LIRI-JP 4 89404321 89404321 single base substitution C G intron_variant LIRI-JP 4 89405238 89405238 single base substitution A G intron_variant LIRI-JP 4 89405562 89405562 single base substitution G A intron_variant LIRI-JP 4 89406354 89406354 single base substitution G A intron_variant LIRI-JP 4 89409514 89409514 single base substitution C T intron_variant LIRI-JP 4 89411949 89411949 single base substitution T G intron_variant LIRI-JP 4 89412314 89412314 single base substitution G A intron_variant LIRI-JP 4 89413332 89413332 single base substitution T G intron_variant LIRI-JP 4 89413348 89413348 single base substitution T C intron_variant LIRI-JP 4 89415842 89415842 single base substitution A T intron_variant LIRI-JP 4 89417191 89417191 single base substitution C T intron_variant LIRI-JP 4 89421644 89421644 single base substitution C A intron_variant LIRI-JP 4 89422460 89422460 single base substitution A G intron_variant LIRI-JP 4 89428192 89428192 single base substitution A G downstream_gene_variant LIRI-JP 4 89428370 89428380 deletion of <=200bp AAGCGGTGAAG - downstream_gene_variant LIRI-JP 4 89428569 89428569 single base substitution A G downstream_gene_variant LIRI-JP 4 89430183 89430183 single base substitution T C downstream_gene_variant LIRI-JP 4 89430916 89430916 single base substitution T A downstream_gene_variant LUSC-KR 4 89374287 89374287 single base substitution C A upstream_gene_variant LUSC-KR 4 89375477 89375477 single base substitution T C upstream_gene_variant LUSC-KR 4 89376556 89376556 single base substitution C A upstream_gene_variant LUSC-KR 4 89379124 89379124 single base substitution A G exon_variant LUSC-KR 4 89379124 89379124 single base substitution A G intron_variant LUSC-KR 4 89389036 89389036 single base substitution A G 5_prime_UTR_variant LUSC-KR 4 89389036 89389036 single base substitution A G intron_variant LUSC-KR 4 89390525 89390525 single base substitution C A intron_variant LUSC-KR 4 89390525 89390525 single base substitution C A upstream_gene_variant LUSC-KR 4 89398188 89398188 single base substitution C A intron_variant LUSC-KR 4 89400454 89400454 single base substitution G A intron_variant LUSC-KR 4 89400457 89400457 single base substitution C A intron_variant LUSC-KR 4 89403387 89403387 single base substitution G T intron_variant LUSC-KR 4 89404906 89404906 single base substitution C T intron_variant LUSC-KR 4 89405902 89405902 single base substitution C G intron_variant LUSC-KR 4 89408969 89408969 single base substitution T C intron_variant LUSC-KR 4 89409456 89409456 single base substitution C T intron_variant LUSC-KR 4 89422278 89422278 single base substitution G C intron_variant LUSC-KR 4 89426771 89426771 single base substitution G C intron_variant LUSC-KR 4 89426799 89426799 single base substitution T C intron_variant LUSC-KR 4 89430838 89430838 single base substitution T C downstream_gene_variant LUSC-US 4 89383489 89383489 single base substitution G A downstream_gene_variant LUSC-US 4 89383489 89383489 single base substitution G A missense_variant G224S 670G>A LUSC-US 4 89385004 89385004 single base substitution A G downstream_gene_variant LUSC-US 4 89385004 89385004 single base substitution A G splice_acceptor_variant LUSC-US 4 89385004 89385004 single base substitution A G upstream_gene_variant LUSC-US 4 89397178 89397178 single base substitution C A exon_variant LUSC-US 4 89397178 89397178 single base substitution C A missense_variant L165M 493C>A LUSC-US 4 89397178 89397178 single base substitution C A missense_variant L527M 1579C>A LUSC-US 4 89400515 89400515 single base substitution G A exon_variant LUSC-US 4 89400515 89400515 single base substitution G A missense_variant A170T 508G>A LUSC-US 4 89400515 89400515 single base substitution G A missense_variant A532T 1594G>A LUSC-US 4 89400577 89400577 single base substitution C A exon_variant LUSC-US 4 89400577 89400577 single base substitution C A stop_gained C190* 570C>A LUSC-US 4 89400577 89400577 single base substitution C A stop_gained C552* 1656C>A LUSC-US 4 89425483 89425483 single base substitution G C exon_variant LUSC-US 4 89425483 89425483 single base substitution G C missense_variant D533H 1597G>C LUSC-US 4 89425483 89425483 single base substitution G C missense_variant D895H 2683G>C LUSC-US 4 89427028 89427028 single base substitution G T exon_variant LUSC-US 4 89427028 89427028 single base substitution G T stop_lost *1025L 3074G>T LUSC-US 4 89427028 89427028 single base substitution G T stop_lost *663L 1988G>T MALY-DE 4 89375178 89375178 insertion of <=200bp - CTTTGTTCC upstream_gene_variant MALY-DE 4 89378098 89378098 single base substitution C A upstream_gene_variant MALY-DE 4 89388720 89388720 single base substitution A T intron_variant MALY-DE 4 89388720 89388720 single base substitution A T upstream_gene_variant MALY-DE 4 89412029 89412029 single base substitution G C intron_variant MALY-DE 4 89420710 89420710 single base substitution A C intron_variant MALY-DE 4 89420942 89420942 single base substitution G A intron_variant MALY-DE 4 89421635 89421635 single base substitution A T intron_variant MALY-DE 4 89422544 89422544 single base substitution G T intron_variant MALY-DE 4 89423720 89423720 single base substitution C T intron_variant MALY-DE 4 89423878 89423878 single base substitution A T intron_variant MALY-DE 4 89424257 89424257 single base substitution C T intron_variant MALY-DE 4 89425618 89425618 single base substitution C A exon_variant MALY-DE 4 89425618 89425618 single base substitution C A intron_variant MALY-DE 4 89428998 89428998 single base substitution C G downstream_gene_variant MALY-DE 4 89430797 89430797 single base substitution G A downstream_gene_variant MALY-DE 4 89431286 89431286 single base substitution G T downstream_gene_variant MELA-AU 4 89373857 89373857 single base substitution C T upstream_gene_variant MELA-AU 4 89373865 89373865 single base substitution C T upstream_gene_variant MELA-AU 4 89374012 89374012 single base substitution G A upstream_gene_variant MELA-AU 4 89374110 89374110 single base substitution G A upstream_gene_variant MELA-AU 4 89374352 89374352 single base substitution G A upstream_gene_variant MELA-AU 4 89374421 89374421 single base substitution T C upstream_gene_variant MELA-AU 4 89374475 89374475 single base substitution G A upstream_gene_variant MELA-AU 4 89374529 89374529 single base substitution C T upstream_gene_variant MELA-AU 4 89374969 89374969 single base substitution G A upstream_gene_variant MELA-AU 4 89375257 89375257 single base substitution G A upstream_gene_variant MELA-AU 4 89375714 89375714 single base substitution G A upstream_gene_variant MELA-AU 4 89378154 89378154 single base substitution C T upstream_gene_variant MELA-AU 4 89378211 89378212 multiple base substitution (>=2bp and <=200bp) GA AG upstream_gene_variant MELA-AU 4 89378417 89378417 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 4 89378417 89378417 single base substitution G T upstream_gene_variant MELA-AU 4 89378768 89378768 single base substitution C T intron_variant MELA-AU 4 89378768 89378768 single base substitution C T upstream_gene_variant MELA-AU 4 89379764 89379764 single base substitution C T intron_variant MELA-AU 4 89381029 89381029 single base substitution T A intron_variant MELA-AU 4 89381192 89381192 single base substitution C T intron_variant MELA-AU 4 89381560 89381560 single base substitution A G intron_variant MELA-AU 4 89381760 89381760 single base substitution C T intron_variant MELA-AU 4 89381807 89381807 single base substitution G A intron_variant MELA-AU 4 89382689 89382689 single base substitution C T intron_variant MELA-AU 4 89383439 89383439 single base substitution C T downstream_gene_variant MELA-AU 4 89383439 89383439 single base substitution C T missense_variant S207F 620C>T MELA-AU 4 89384032 89384032 single base substitution G A downstream_gene_variant MELA-AU 4 89384032 89384032 single base substitution G A intron_variant MELA-AU 4 89384032 89384032 single base substitution G A upstream_gene_variant MELA-AU 4 89384095 89384095 single base substitution C T downstream_gene_variant MELA-AU 4 89384095 89384095 single base substitution C T intron_variant MELA-AU 4 89384095 89384095 single base substitution C T upstream_gene_variant MELA-AU 4 89384578 89384578 single base substitution C T downstream_gene_variant MELA-AU 4 89384578 89384578 single base substitution C T intron_variant MELA-AU 4 89384578 89384578 single base substitution C T upstream_gene_variant MELA-AU 4 89385000 89385000 single base substitution C T downstream_gene_variant MELA-AU 4 89385000 89385000 single base substitution C T splice_region_variant MELA-AU 4 89385000 89385000 single base substitution C T upstream_gene_variant MELA-AU 4 89386260 89386260 single base substitution T C downstream_gene_variant MELA-AU 4 89386260 89386260 single base substitution T C intron_variant MELA-AU 4 89386260 89386260 single base substitution T C upstream_gene_variant MELA-AU 4 89386430 89386430 single base substitution G A downstream_gene_variant MELA-AU 4 89386430 89386430 single base substitution G A intron_variant MELA-AU 4 89386430 89386430 single base substitution G A upstream_gene_variant MELA-AU 4 89386448 89386448 single base substitution C T downstream_gene_variant MELA-AU 4 89386448 89386448 single base substitution C T intron_variant MELA-AU 4 89386448 89386448 single base substitution C T upstream_gene_variant MELA-AU 4 89387043 89387043 single base substitution C G downstream_gene_variant MELA-AU 4 89387043 89387043 single base substitution C G intron_variant MELA-AU 4 89387043 89387043 single base substitution C G upstream_gene_variant MELA-AU 4 89387481 89387481 single base substitution C T downstream_gene_variant MELA-AU 4 89387481 89387481 single base substitution C T intron_variant MELA-AU 4 89387481 89387481 single base substitution C T upstream_gene_variant MELA-AU 4 89389284 89389284 single base substitution T G intron_variant MELA-AU 4 89389284 89389284 single base substitution T G upstream_gene_variant MELA-AU 4 89389328 89389329 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 89389328 89389329 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 89389345 89389345 single base substitution C T intron_variant MELA-AU 4 89389345 89389345 single base substitution C T upstream_gene_variant MELA-AU 4 89389813 89389813 single base substitution T C intron_variant MELA-AU 4 89389813 89389813 single base substitution T C upstream_gene_variant MELA-AU 4 89390312 89390312 single base substitution C T missense_variant S18L 53C>T MELA-AU 4 89390312 89390312 single base substitution C T missense_variant S380L 1139C>T MELA-AU 4 89390312 89390312 single base substitution C T upstream_gene_variant MELA-AU 4 89390338 89390338 single base substitution C T missense_variant P27S 79C>T MELA-AU 4 89390338 89390338 single base substitution C T missense_variant P389S 1165C>T MELA-AU 4 89390338 89390338 single base substitution C T upstream_gene_variant MELA-AU 4 89391474 89391474 single base substitution C T intron_variant MELA-AU 4 89391474 89391474 single base substitution C T upstream_gene_variant MELA-AU 4 89391482 89391482 single base substitution T C intron_variant MELA-AU 4 89391482 89391482 single base substitution T C upstream_gene_variant MELA-AU 4 89391551 89391551 single base substitution C T intron_variant MELA-AU 4 89391551 89391551 single base substitution C T upstream_gene_variant MELA-AU 4 89392229 89392229 single base substitution C T intron_variant MELA-AU 4 89392229 89392229 single base substitution C T upstream_gene_variant MELA-AU 4 89392616 89392616 single base substitution C T intron_variant MELA-AU 4 89392616 89392616 single base substitution C T upstream_gene_variant MELA-AU 4 89392911 89392911 single base substitution C A intron_variant MELA-AU 4 89392911 89392911 single base substitution C A upstream_gene_variant MELA-AU 4 89392920 89392920 single base substitution C T intron_variant MELA-AU 4 89392920 89392920 single base substitution C T upstream_gene_variant MELA-AU 4 89393141 89393141 single base substitution C T intron_variant MELA-AU 4 89393141 89393141 single base substitution C T upstream_gene_variant MELA-AU 4 89393621 89393621 single base substitution G A missense_variant E454K 1360G>A MELA-AU 4 89393621 89393621 single base substitution G A missense_variant E92K 274G>A MELA-AU 4 89393621 89393621 single base substitution G A upstream_gene_variant MELA-AU 4 89393635 89393635 single base substitution G A synonymous_variant K458K 1374G>A MELA-AU 4 89393635 89393635 single base substitution G A synonymous_variant K96K 288G>A MELA-AU 4 89393635 89393635 single base substitution G A upstream_gene_variant MELA-AU 4 89394345 89394345 single base substitution C T exon_variant MELA-AU 4 89394345 89394345 single base substitution C T intron_variant MELA-AU 4 89394346 89394346 single base substitution C T exon_variant MELA-AU 4 89394346 89394346 single base substitution C T intron_variant MELA-AU 4 89394529 89394529 single base substitution C T exon_variant MELA-AU 4 89394529 89394529 single base substitution C T intron_variant MELA-AU 4 89394720 89394720 single base substitution C T exon_variant MELA-AU 4 89394720 89394720 single base substitution C T intron_variant MELA-AU 4 89394959 89394959 single base substitution G A exon_variant MELA-AU 4 89394959 89394959 single base substitution G A intron_variant MELA-AU 4 89395636 89395636 single base substitution G A intron_variant MELA-AU 4 89396112 89396112 single base substitution C T intron_variant MELA-AU 4 89396260 89396260 single base substitution G A intron_variant MELA-AU 4 89396579 89396579 single base substitution C T intron_variant MELA-AU 4 89396965 89396965 single base substitution C T intron_variant MELA-AU 4 89397428 89397428 single base substitution A G intron_variant MELA-AU 4 89397697 89397697 single base substitution T A intron_variant MELA-AU 4 89397749 89397749 single base substitution C T intron_variant MELA-AU 4 89397770 89397770 single base substitution C T intron_variant MELA-AU 4 89397986 89397986 single base substitution C T intron_variant MELA-AU 4 89398116 89398116 single base substitution C T intron_variant MELA-AU 4 89398314 89398314 single base substitution C A intron_variant MELA-AU 4 89398947 89398947 single base substitution C T intron_variant MELA-AU 4 89399473 89399473 single base substitution T C intron_variant MELA-AU 4 89399707 89399707 single base substitution C T intron_variant MELA-AU 4 89400221 89400221 single base substitution G A intron_variant MELA-AU 4 89400390 89400390 single base substitution C T intron_variant MELA-AU 4 89401023 89401023 single base substitution C T intron_variant MELA-AU 4 89401031 89401031 single base substitution A G intron_variant MELA-AU 4 89401264 89401264 single base substitution C T intron_variant MELA-AU 4 89402163 89402163 single base substitution T G intron_variant MELA-AU 4 89402861 89402861 single base substitution G C intron_variant MELA-AU 4 89403289 89403289 single base substitution C T intron_variant MELA-AU 4 89403563 89403563 single base substitution G A intron_variant MELA-AU 4 89403824 89403824 single base substitution C T intron_variant MELA-AU 4 89403901 89403901 single base substitution A T intron_variant MELA-AU 4 89405013 89405013 single base substitution G A intron_variant MELA-AU 4 89405030 89405030 single base substitution C T intron_variant MELA-AU 4 89405433 89405433 single base substitution G A intron_variant MELA-AU 4 89405516 89405516 single base substitution C T intron_variant MELA-AU 4 89406417 89406417 single base substitution C T intron_variant MELA-AU 4 89406867 89406867 single base substitution G A intron_variant MELA-AU 4 89407055 89407055 single base substitution C T intron_variant MELA-AU 4 89407972 89407972 single base substitution C T intron_variant MELA-AU 4 89408172 89408172 single base substitution T C intron_variant MELA-AU 4 89408211 89408211 single base substitution C T intron_variant MELA-AU 4 89408884 89408884 single base substitution G C intron_variant MELA-AU 4 89409153 89409153 single base substitution C T intron_variant MELA-AU 4 89409625 89409625 single base substitution C T intron_variant MELA-AU 4 89409921 89409921 single base substitution G C intron_variant MELA-AU 4 89410025 89410025 single base substitution T A intron_variant MELA-AU 4 89410844 89410845 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 89410908 89410909 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 89410957 89410957 single base substitution C T intron_variant MELA-AU 4 89411267 89411267 single base substitution G A intron_variant MELA-AU 4 89411590 89411590 single base substitution G A intron_variant MELA-AU 4 89411677 89411677 single base substitution T G intron_variant MELA-AU 4 89412995 89412995 single base substitution G A intron_variant MELA-AU 4 89413189 89413189 single base substitution C T intron_variant MELA-AU 4 89413353 89413353 single base substitution C T intron_variant MELA-AU 4 89413469 89413469 single base substitution C T intron_variant MELA-AU 4 89414476 89414476 single base substitution C T intron_variant MELA-AU 4 89414725 89414725 single base substitution G A intron_variant MELA-AU 4 89414899 89414899 single base substitution G A intron_variant MELA-AU 4 89414982 89414982 single base substitution C T intron_variant MELA-AU 4 89415439 89415439 single base substitution C T exon_variant MELA-AU 4 89415439 89415439 single base substitution C T missense_variant P439S 1315C>T MELA-AU 4 89415439 89415439 single base substitution C T missense_variant P801S 2401C>T MELA-AU 4 89415639 89415639 single base substitution C T intron_variant MELA-AU 4 89415671 89415671 single base substitution C T intron_variant MELA-AU 4 89415740 89415740 single base substitution C T intron_variant MELA-AU 4 89415909 89415909 single base substitution C T intron_variant MELA-AU 4 89416041 89416041 single base substitution C T intron_variant MELA-AU 4 89417287 89417287 single base substitution A G intron_variant MELA-AU 4 89417321 89417321 single base substitution A C intron_variant MELA-AU 4 89418192 89418192 single base substitution G A intron_variant MELA-AU 4 89418469 89418469 single base substitution C T intron_variant MELA-AU 4 89418647 89418647 single base substitution C T intron_variant MELA-AU 4 89419581 89419581 single base substitution T A intron_variant MELA-AU 4 89421741 89421741 single base substitution G A intron_variant MELA-AU 4 89423041 89423042 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 89423966 89423966 single base substitution C T intron_variant MELA-AU 4 89424255 89424255 single base substitution C T intron_variant MELA-AU 4 89424655 89424655 single base substitution A C intron_variant MELA-AU 4 89424683 89424683 single base substitution C T intron_variant MELA-AU 4 89425358 89425358 single base substitution G A intron_variant MELA-AU 4 89425518 89425518 single base substitution G A exon_variant MELA-AU 4 89425518 89425518 single base substitution G A synonymous_variant K544K 1632G>A MELA-AU 4 89425518 89425518 single base substitution G A synonymous_variant K906K 2718G>A MELA-AU 4 89425806 89425806 single base substitution A G intron_variant MELA-AU 4 89426005 89426005 single base substitution C T intron_variant MELA-AU 4 89426313 89426313 single base substitution C T intron_variant MELA-AU 4 89428412 89428412 single base substitution C T downstream_gene_variant MELA-AU 4 89428605 89428605 single base substitution C T downstream_gene_variant MELA-AU 4 89428668 89428668 single base substitution C T downstream_gene_variant MELA-AU 4 89428903 89428903 single base substitution C T downstream_gene_variant MELA-AU 4 89429054 89429054 single base substitution C T downstream_gene_variant MELA-AU 4 89429654 89429654 single base substitution G A downstream_gene_variant MELA-AU 4 89430244 89430244 single base substitution C T downstream_gene_variant MELA-AU 4 89430817 89430817 single base substitution C T downstream_gene_variant MELA-AU 4 89430937 89430937 single base substitution T C downstream_gene_variant MELA-AU 4 89430952 89430952 single base substitution C T downstream_gene_variant MELA-AU 4 89431581 89431581 single base substitution C T downstream_gene_variant MELA-AU 4 89431998 89431998 single base substitution C T downstream_gene_variant ORCA-IN 4 89397170 89397170 single base substitution C T exon_variant ORCA-IN 4 89397170 89397170 single base substitution C T missense_variant S162L 485C>T ORCA-IN 4 89397170 89397170 single base substitution C T missense_variant S524L 1571C>T ORCA-IN 4 89413489 89413489 single base substitution T C intron_variant ORCA-IN 4 89418272 89418272 single base substitution C T intron_variant OV-AU 4 89374449 89374449 single base substitution T A upstream_gene_variant OV-AU 4 89389015 89389015 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant OV-AU 4 89389015 89389015 single base substitution G T intron_variant OV-AU 4 89397512 89397512 single base substitution C G intron_variant OV-AU 4 89401965 89401965 single base substitution G C intron_variant OV-AU 4 89413827 89413827 single base substitution G A intron_variant OV-AU 4 89416951 89416951 single base substitution G T intron_variant OV-AU 4 89422144 89422144 single base substitution C G splice_region_variant OV-AU 4 89432059 89432059 single base substitution G C downstream_gene_variant OV-US 4 89407376 89407376 single base substitution T C exon_variant OV-US 4 89407376 89407376 single base substitution T C synonymous_variant T254T 762T>C OV-US 4 89407376 89407376 single base substitution T C synonymous_variant T616T 1848T>C PACA-AU 4 89373794 89373794 single base substitution G A upstream_gene_variant PACA-AU 4 89382214 89382214 single base substitution G T intron_variant PACA-AU 4 89385280 89385280 single base substitution A T downstream_gene_variant PACA-AU 4 89385280 89385280 single base substitution A T intron_variant PACA-AU 4 89385280 89385280 single base substitution A T upstream_gene_variant PACA-AU 4 89390532 89390532 single base substitution G T intron_variant PACA-AU 4 89390532 89390532 single base substitution G T upstream_gene_variant PACA-AU 4 89391192 89391192 single base substitution A G intron_variant PACA-AU 4 89391192 89391192 single base substitution A G upstream_gene_variant PACA-AU 4 89398926 89398926 single base substitution C T intron_variant PACA-AU 4 89403925 89403925 single base substitution G T intron_variant PACA-AU 4 89407798 89407798 single base substitution C T intron_variant PACA-AU 4 89409892 89409892 single base substitution C A intron_variant PACA-AU 4 89410912 89410912 single base substitution C T intron_variant PACA-AU 4 89411793 89411793 single base substitution G A intron_variant PACA-AU 4 89411975 89411975 single base substitution G A intron_variant PACA-AU 4 89412636 89412636 insertion of <=200bp - A intron_variant PACA-AU 4 89414077 89414077 single base substitution T G intron_variant PACA-AU 4 89416690 89416690 single base substitution G A intron_variant PACA-AU 4 89423098 89423098 single base substitution C T intron_variant PACA-AU 4 89426556 89426556 single base substitution C T intron_variant PACA-AU 4 89428476 89428476 single base substitution G A downstream_gene_variant PACA-AU 4 89429367 89429367 single base substitution C A downstream_gene_variant PACA-CA 4 89373813 89373813 single base substitution G A upstream_gene_variant PACA-CA 4 89376535 89376535 single base substitution C A upstream_gene_variant PACA-CA 4 89376587 89376591 deletion of <=200bp TCCCT - upstream_gene_variant PACA-CA 4 89376593 89376600 deletion of <=200bp CTGCATAA - upstream_gene_variant PACA-CA 4 89376916 89376916 insertion of <=200bp - A upstream_gene_variant PACA-CA 4 89380809 89380809 single base substitution A G intron_variant PACA-CA 4 89382916 89382916 single base substitution G T intron_variant PACA-CA 4 89384530 89384530 single base substitution G C downstream_gene_variant PACA-CA 4 89384530 89384530 single base substitution G C intron_variant PACA-CA 4 89384530 89384530 single base substitution G C upstream_gene_variant PACA-CA 4 89385656 89385656 single base substitution G T downstream_gene_variant PACA-CA 4 89385656 89385656 single base substitution G T intron_variant PACA-CA 4 89385656 89385656 single base substitution G T upstream_gene_variant PACA-CA 4 89386580 89386580 single base substitution T A downstream_gene_variant PACA-CA 4 89386580 89386580 single base substitution T A intron_variant PACA-CA 4 89386580 89386580 single base substitution T A upstream_gene_variant PACA-CA 4 89387657 89387657 single base substitution G A downstream_gene_variant PACA-CA 4 89387657 89387657 single base substitution G A intron_variant PACA-CA 4 89387657 89387657 single base substitution G A upstream_gene_variant PACA-CA 4 89388791 89388791 single base substitution C T intron_variant PACA-CA 4 89388791 89388791 single base substitution C T upstream_gene_variant PACA-CA 4 89390999 89390999 single base substitution A G intron_variant PACA-CA 4 89390999 89390999 single base substitution A G upstream_gene_variant PACA-CA 4 89391750 89391750 single base substitution T A intron_variant PACA-CA 4 89391750 89391750 single base substitution T A upstream_gene_variant PACA-CA 4 89392090 89392090 deletion of <=200bp A - intron_variant PACA-CA 4 89392090 89392090 deletion of <=200bp A - upstream_gene_variant PACA-CA 4 89392817 89392817 single base substitution C T intron_variant PACA-CA 4 89392817 89392817 single base substitution C T upstream_gene_variant PACA-CA 4 89395493 89395493 single base substitution G A intron_variant PACA-CA 4 89397635 89397635 single base substitution A G intron_variant PACA-CA 4 89398153 89398153 single base substitution T A intron_variant PACA-CA 4 89401091 89401091 single base substitution G A intron_variant PACA-CA 4 89401592 89401592 single base substitution T C intron_variant PACA-CA 4 89407462 89407462 deletion of <=200bp T - intron_variant PACA-CA 4 89408287 89408287 single base substitution C T exon_variant PACA-CA 4 89408287 89408287 single base substitution C T missense_variant S278L 833C>T PACA-CA 4 89408287 89408287 single base substitution C T missense_variant S640L 1919C>T PACA-CA 4 89408545 89408545 single base substitution T C intron_variant PACA-CA 4 89415700 89415700 single base substitution T C intron_variant PACA-CA 4 89420045 89420045 single base substitution T A intron_variant PACA-CA 4 89420804 89420804 single base substitution A G intron_variant PACA-CA 4 89421096 89421096 single base substitution G T exon_variant PACA-CA 4 89421096 89421096 single base substitution G T missense_variant D460Y 1378G>T PACA-CA 4 89421096 89421096 single base substitution G T missense_variant D822Y 2464G>T PACA-CA 4 89423240 89423240 single base substitution C T intron_variant PACA-CA 4 89427864 89427864 insertion of <=200bp - TT downstream_gene_variant PACA-CA 4 89427996 89427996 single base substitution G T downstream_gene_variant PACA-CA 4 89428010 89428010 single base substitution C T downstream_gene_variant PACA-CA 4 89430903 89430903 single base substitution C T downstream_gene_variant PACA-CA 4 89432261 89432261 single base substitution A G downstream_gene_variant PAEN-AU 4 89378702 89378710 deletion of <=200bp TGTGAGGGC - intron_variant PAEN-AU 4 89378702 89378710 deletion of <=200bp TGTGAGGGC - upstream_gene_variant PAEN-AU 4 89424422 89424422 single base substitution A G intron_variant PAEN-AU 4 89426753 89426753 single base substitution G T intron_variant PAEN-IT 4 89407910 89407910 single base substitution G A intron_variant PAEN-IT 4 89417466 89417466 single base substitution A G intron_variant PAEN-IT 4 89427413 89427413 single base substitution G A downstream_gene_variant PBCA-DE 4 89381422 89381422 deletion of <=200bp T - intron_variant PBCA-DE 4 89395261 89395261 single base substitution C A intron_variant PBCA-DE 4 89397280 89397280 insertion of <=200bp - T intron_variant PBCA-DE 4 89398590 89398590 single base substitution C G intron_variant PBCA-DE 4 89403767 89403767 single base substitution A G intron_variant PBCA-DE 4 89407319 89407319 single base substitution C A exon_variant PBCA-DE 4 89407319 89407319 single base substitution C A synonymous_variant L235L 705C>A PBCA-DE 4 89407319 89407319 single base substitution C A synonymous_variant L597L 1791C>A PBCA-DE 4 89413330 89413330 insertion of <=200bp - T intron_variant PBCA-DE 4 89416905 89416905 insertion of <=200bp - A intron_variant PBCA-DE 4 89418523 89418523 single base substitution G A intron_variant PBCA-DE 4 89426679 89426679 single base substitution C T intron_variant PRAD-CA 4 89376717 89376717 single base substitution A G upstream_gene_variant PRAD-CA 4 89378138 89378138 single base substitution A T upstream_gene_variant PRAD-CA 4 89389759 89389759 single base substitution T A intron_variant PRAD-CA 4 89389759 89389759 single base substitution T A upstream_gene_variant PRAD-CA 4 89407511 89407511 single base substitution C T intron_variant PRAD-CA 4 89424323 89424323 single base substitution A T intron_variant PRAD-UK 4 89379754 89379754 single base substitution G A intron_variant PRAD-UK 4 89391935 89391935 single base substitution T A intron_variant PRAD-UK 4 89391935 89391935 single base substitution T A upstream_gene_variant PRAD-UK 4 89393390 89393390 single base substitution G A intron_variant PRAD-UK 4 89393390 89393390 single base substitution G A upstream_gene_variant PRAD-UK 4 89394705 89394705 single base substitution C T exon_variant PRAD-UK 4 89394705 89394705 single base substitution C T intron_variant PRAD-UK 4 89402530 89402530 single base substitution C T intron_variant PRAD-UK 4 89412308 89412308 single base substitution G A intron_variant PRAD-UK 4 89416888 89416888 single base substitution G A intron_variant PRAD-US 4 89415467 89415467 single base substitution G T exon_variant PRAD-US 4 89415467 89415467 single base substitution G T missense_variant S448I 1343G>T PRAD-US 4 89415467 89415467 single base substitution G T missense_variant S810I 2429G>T READ-US 4 89391771 89391771 single base substitution C T synonymous_variant I415I 1245C>T READ-US 4 89391771 89391771 single base substitution C T synonymous_variant I53I 159C>T READ-US 4 89391771 89391771 single base substitution C T upstream_gene_variant READ-US 4 89410477 89410477 single base substitution A C exon_variant READ-US 4 89410477 89410477 single base substitution A C missense_variant K346T 1037A>C READ-US 4 89410477 89410477 single base substitution A C missense_variant K708T 2123A>C READ-US 4 89415426 89415426 single base substitution T G exon_variant READ-US 4 89415426 89415426 single base substitution T G synonymous_variant L434L 1302T>G READ-US 4 89415426 89415426 single base substitution T G synonymous_variant L796L 2388T>G READ-US 4 89415463 89415463 single base substitution C T exon_variant READ-US 4 89415463 89415463 single base substitution C T missense_variant L447F 1339C>T READ-US 4 89415463 89415463 single base substitution C T missense_variant L809F 2425C>T READ-US 4 89425453 89425453 single base substitution C T exon_variant READ-US 4 89425453 89425453 single base substitution C T missense_variant R523W 1567C>T READ-US 4 89425453 89425453 single base substitution C T missense_variant R885W 2653C>T READ-US 4 89425522 89425522 single base substitution G T exon_variant READ-US 4 89425522 89425522 single base substitution G T missense_variant V546L 1636G>T READ-US 4 89425522 89425522 single base substitution G T missense_variant V908L 2722G>T RECA-EU 4 89378292 89378292 single base substitution C A 5_prime_UTR_variant RECA-EU 4 89378292 89378292 single base substitution C A upstream_gene_variant RECA-EU 4 89386265 89386265 single base substitution C T downstream_gene_variant RECA-EU 4 89386265 89386265 single base substitution C T intron_variant RECA-EU 4 89386265 89386265 single base substitution C T upstream_gene_variant RECA-EU 4 89397993 89397993 single base substitution C T intron_variant RECA-EU 4 89399302 89399302 single base substitution G A intron_variant RECA-EU 4 89405621 89405621 single base substitution T A intron_variant RECA-EU 4 89412852 89412852 single base substitution G A intron_variant RECA-EU 4 89414507 89414507 single base substitution C A intron_variant RECA-EU 4 89414738 89414738 single base substitution T G intron_variant RECA-EU 4 89420272 89420272 single base substitution A T intron_variant SKCA-BR 4 89374763 89374763 single base substitution G A upstream_gene_variant SKCA-BR 4 89384830 89384830 single base substitution G A downstream_gene_variant SKCA-BR 4 89384830 89384830 single base substitution G A intron_variant SKCA-BR 4 89384830 89384830 single base substitution G A upstream_gene_variant SKCA-BR 4 89385560 89385560 single base substitution C T downstream_gene_variant SKCA-BR 4 89385560 89385560 single base substitution C T intron_variant SKCA-BR 4 89385560 89385560 single base substitution C T upstream_gene_variant SKCA-BR 4 89386481 89386481 single base substitution C T downstream_gene_variant SKCA-BR 4 89386481 89386481 single base substitution C T intron_variant SKCA-BR 4 89386481 89386481 single base substitution C T upstream_gene_variant SKCA-BR 4 89387876 89387876 single base substitution C T downstream_gene_variant SKCA-BR 4 89387876 89387876 single base substitution C T intron_variant SKCA-BR 4 89387876 89387876 single base substitution C T upstream_gene_variant SKCA-BR 4 89389066 89389066 single base substitution G A 5_prime_UTR_variant SKCA-BR 4 89389066 89389066 single base substitution G A intron_variant SKCA-BR 4 89393596 89393596 single base substitution A G synonymous_variant L445L 1335A>G SKCA-BR 4 89393596 89393596 single base substitution A G synonymous_variant L83L 249A>G SKCA-BR 4 89393596 89393596 single base substitution A G upstream_gene_variant SKCA-BR 4 89394411 89394411 single base substitution C T exon_variant SKCA-BR 4 89394411 89394411 single base substitution C T intron_variant SKCA-BR 4 89396471 89396471 single base substitution C T intron_variant SKCA-BR 4 89397293 89397293 single base substitution C T intron_variant SKCA-BR 4 89404670 89404671 deletion of <=200bp CT - intron_variant SKCA-BR 4 89405439 89405439 single base substitution T C intron_variant SKCA-BR 4 89405777 89405777 single base substitution G A intron_variant SKCA-BR 4 89405814 89405814 single base substitution C T intron_variant SKCA-BR 4 89406873 89406873 single base substitution G A intron_variant SKCA-BR 4 89413351 89413351 single base substitution C T intron_variant SKCA-BR 4 89414727 89414727 single base substitution A G intron_variant SKCA-BR 4 89415060 89415060 single base substitution A G intron_variant SKCA-BR 4 89422084 89422084 single base substitution G A exon_variant SKCA-BR 4 89422084 89422084 single base substitution G A missense_variant D482N 1444G>A SKCA-BR 4 89422084 89422084 single base substitution G A missense_variant D844N 2530G>A SKCA-BR 4 89423800 89423800 single base substitution G A intron_variant SKCA-BR 4 89425506 89425506 single base substitution C T exon_variant SKCA-BR 4 89425506 89425506 single base substitution C T synonymous_variant P540P 1620C>T SKCA-BR 4 89425506 89425506 single base substitution C T synonymous_variant P902P 2706C>T SKCA-BR 4 89426246 89426246 single base substitution A G intron_variant SKCA-BR 4 89432212 89432212 single base substitution G A downstream_gene_variant SKCM-US 4 89378622 89378622 single base substitution C T missense_variant R68C 202C>T SKCM-US 4 89378622 89378622 single base substitution C T upstream_gene_variant SKCM-US 4 89381275 89381275 single base substitution T A exon_variant SKCM-US 4 89381275 89381275 single base substitution T A missense_variant I140K 419T>A SKCM-US 4 89384699 89384699 single base substitution C T downstream_gene_variant SKCM-US 4 89384699 89384699 single base substitution C T synonymous_variant S235S 705C>T SKCM-US 4 89384699 89384699 single base substitution C T upstream_gene_variant SKCM-US 4 89384700 89384700 single base substitution C T downstream_gene_variant SKCM-US 4 89384700 89384700 single base substitution C T missense_variant L236F 706C>T SKCM-US 4 89384700 89384700 single base substitution C T upstream_gene_variant SKCM-US 4 89389521 89389521 single base substitution T A 5_prime_UTR_variant SKCM-US 4 89389521 89389521 single base substitution T A stop_gained L361* 1082T>A SKCM-US 4 89389521 89389521 single base substitution T A upstream_gene_variant SKCM-US 4 89390312 89390312 single base substitution C T missense_variant S18L 53C>T SKCM-US 4 89390312 89390312 single base substitution C T missense_variant S380L 1139C>T SKCM-US 4 89390312 89390312 single base substitution C T upstream_gene_variant SKCM-US 4 89390338 89390338 single base substitution C T missense_variant P27S 79C>T SKCM-US 4 89390338 89390338 single base substitution C T missense_variant P389S 1165C>T SKCM-US 4 89390338 89390338 single base substitution C T upstream_gene_variant SKCM-US 4 89390350 89390350 single base substitution G A missense_variant E31K 91G>A SKCM-US 4 89390350 89390350 single base substitution G A missense_variant E393K 1177G>A SKCM-US 4 89390350 89390350 single base substitution G A upstream_gene_variant SKCM-US 4 89414189 89414189 single base substitution T A exon_variant SKCM-US 4 89414189 89414189 single base substitution T A stop_gained Y358* 1074T>A SKCM-US 4 89414189 89414189 single base substitution T A stop_gained Y720* 2160T>A SKCM-US 4 89415451 89415451 single base substitution G A exon_variant SKCM-US 4 89415451 89415451 single base substitution G A missense_variant D443N 1327G>A SKCM-US 4 89415451 89415451 single base substitution G A missense_variant D805N 2413G>A SKCM-US 4 89421091 89421091 single base substitution T A exon_variant SKCM-US 4 89421091 89421091 single base substitution T A missense_variant L458H 1373T>A SKCM-US 4 89421091 89421091 single base substitution T A missense_variant L820H 2459T>A STAD-US 4 89380514 89380514 insertion of <=200bp - A exon_variant STAD-US 4 89380514 89380514 insertion of <=200bp - A frameshift_variant G94G? STAD-US 4 89380524 89380524 single base substitution A G exon_variant STAD-US 4 89380524 89380524 single base substitution A G missense_variant K98E 292A>G STAD-US 4 89380566 89380566 single base substitution C A exon_variant STAD-US 4 89380566 89380566 single base substitution C A missense_variant L112I 334C>A STAD-US 4 89384739 89384739 single base substitution G A downstream_gene_variant STAD-US 4 89384739 89384739 single base substitution G A missense_variant A249T 745G>A STAD-US 4 89384739 89384739 single base substitution G A upstream_gene_variant STAD-US 4 89384765 89384765 single base substitution A G downstream_gene_variant STAD-US 4 89384765 89384765 single base substitution A G synonymous_variant L257L 771A>G STAD-US 4 89384765 89384765 single base substitution A G upstream_gene_variant STAD-US 4 89385112 89385112 single base substitution G A downstream_gene_variant STAD-US 4 89385112 89385112 single base substitution G A missense_variant R296K 887G>A STAD-US 4 89385112 89385112 single base substitution G A upstream_gene_variant STAD-US 4 89388315 89388315 single base substitution G A downstream_gene_variant STAD-US 4 89388315 89388315 single base substitution G A synonymous_variant P339P 1017G>A STAD-US 4 89388315 89388315 single base substitution G A upstream_gene_variant STAD-US 4 89388332 89388332 single base substitution C T downstream_gene_variant STAD-US 4 89388332 89388332 single base substitution C T missense_variant S345L 1034C>T STAD-US 4 89388332 89388332 single base substitution C T upstream_gene_variant STAD-US 4 89389505 89389505 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant STAD-US 4 89389505 89389505 single base substitution A G missense_variant T356A 1066A>G STAD-US 4 89389505 89389505 single base substitution A G upstream_gene_variant STAD-US 4 89390312 89390312 single base substitution C A stop_gained S18* 53C>A STAD-US 4 89390312 89390312 single base substitution C A stop_gained S380* 1139C>A STAD-US 4 89390312 89390312 single base substitution C A upstream_gene_variant STAD-US 4 89391825 89391825 single base substitution G A splice_donor_variant STAD-US 4 89391825 89391825 single base substitution G A upstream_gene_variant STAD-US 4 89407334 89407334 deletion of <=200bp T - exon_variant STAD-US 4 89407334 89407334 deletion of <=200bp T - frameshift_variant N240 STAD-US 4 89407334 89407334 deletion of <=200bp T - frameshift_variant N602 STAD-US 4 89408222 89408222 single base substitution C T splice_region_variant STAD-US 4 89414248 89414248 single base substitution C T exon_variant STAD-US 4 89414248 89414248 single base substitution C T missense_variant P378L 1133C>T STAD-US 4 89414248 89414248 single base substitution C T missense_variant P740L 2219C>T STAD-US 4 89415436 89415436 single base substitution A G exon_variant STAD-US 4 89415436 89415436 single base substitution A G missense_variant M438V 1312A>G STAD-US 4 89415436 89415436 single base substitution A G missense_variant M800V 2398A>G STAD-US 4 89415439 89415439 single base substitution C T exon_variant STAD-US 4 89415439 89415439 single base substitution C T missense_variant P439S 1315C>T STAD-US 4 89415439 89415439 single base substitution C T missense_variant P801S 2401C>T STAD-US 4 89425424 89425424 single base substitution A G exon_variant STAD-US 4 89425424 89425424 single base substitution A G missense_variant D513G 1538A>G STAD-US 4 89425424 89425424 single base substitution A G missense_variant D875G 2624A>G STAD-US 4 89425506 89425506 single base substitution C T exon_variant STAD-US 4 89425506 89425506 single base substitution C T synonymous_variant P540P 1620C>T STAD-US 4 89425506 89425506 single base substitution C T synonymous_variant P902P 2706C>T UCEC-US 4 89383346 89383346 single base substitution T G exon_variant UCEC-US 4 89383346 89383346 single base substitution T G missense_variant F176C 527T>G UCEC-US 4 89383492 89383492 single base substitution C A downstream_gene_variant UCEC-US 4 89383492 89383492 single base substitution C A missense_variant L225M 673C>A UCEC-US 4 89389501 89389501 single base substitution C T 5_prime_UTR_variant UCEC-US 4 89389501 89389501 single base substitution C T synonymous_variant S354S 1062C>T UCEC-US 4 89389501 89389501 single base substitution C T upstream_gene_variant UCEC-US 4 89391791 89391791 single base substitution C A missense_variant P422H 1265C>A UCEC-US 4 89391791 89391791 single base substitution C A missense_variant P60H 179C>A UCEC-US 4 89391791 89391791 single base substitution C A upstream_gene_variant UCEC-US 4 89397029 89397029 single base substitution T G exon_variant UCEC-US 4 89397029 89397029 single base substitution T G missense_variant L115R 344T>G UCEC-US 4 89397029 89397029 single base substitution T G missense_variant L477R 1430T>G UCEC-US 4 89400504 89400504 single base substitution A C missense_variant E166A 497A>C UCEC-US 4 89400504 89400504 single base substitution A C missense_variant E528A 1583A>C UCEC-US 4 89400504 89400504 single base substitution A C splice_region_variant UCEC-US 4 89407361 89407361 single base substitution C T exon_variant UCEC-US 4 89407361 89407361 single base substitution C T synonymous_variant Y249Y 747C>T UCEC-US 4 89407361 89407361 single base substitution C T synonymous_variant Y611Y 1833C>T UCEC-US 4 89408237 89408237 single base substitution A G exon_variant UCEC-US 4 89408237 89408237 single base substitution A G synonymous_variant V261V 783A>G UCEC-US 4 89408237 89408237 single base substitution A G synonymous_variant V623V 1869A>G UCEC-US 4 89408283 89408283 single base substitution C A exon_variant UCEC-US 4 89408283 89408283 single base substitution C A missense_variant L277M 829C>A UCEC-US 4 89408283 89408283 single base substitution C A missense_variant L639M 1915C>A UCEC-US 4 89415335 89415335 single base substitution G T exon_variant UCEC-US 4 89415335 89415335 single base substitution G T missense_variant R404I 1211G>T UCEC-US 4 89415335 89415335 single base substitution G T missense_variant R766I 2297G>T UCEC-US 4 89415363 89415363 single base substitution A G exon_variant UCEC-US 4 89415363 89415363 single base substitution A G synonymous_variant G413G 1239A>G UCEC-US 4 89415363 89415363 single base substitution A G synonymous_variant G775G 2325A>G UCEC-US 4 89415462 89415462 single base substitution A G exon_variant UCEC-US 4 89415462 89415462 single base substitution A G synonymous_variant E446E 1338A>G UCEC-US 4 89415462 89415462 single base substitution A G synonymous_variant E808E 2424A>G UCEC-US 4 89421093 89421093 single base substitution C T exon_variant UCEC-US 4 89421093 89421093 single base substitution C T synonymous_variant L459L 1375C>T UCEC-US 4 89421093 89421093 single base substitution C T synonymous_variant L821L 2461C>T UCEC-US 4 89425453 89425453 single base substitution C T exon_variant UCEC-US 4 89425453 89425453 single base substitution C T missense_variant R523W 1567C>T UCEC-US 4 89425453 89425453 single base substitution C T missense_variant R885W 2653C>T UCEC-US 4 89425479 89425479 single base substitution C T exon_variant UCEC-US 4 89425479 89425479 single base substitution C T synonymous_variant D531D 1593C>T UCEC-US 4 89425479 89425479 single base substitution C T synonymous_variant D893D 2679C>T UCEC-US 4 89426885 89426885 single base substitution T G exon_variant UCEC-US 4 89426885 89426885 single base substitution T G missense_variant F615L 1845T>G UCEC-US 4 89426885 89426885 single base substitution T G missense_variant F977L 2931T>G UCEC-US 4 89426939 89426939 single base substitution C A exon_variant UCEC-US 4 89426939 89426939 single base substitution C A missense_variant F633L 1899C>A UCEC-US 4 89426939 89426939 single base substitution C A missense_variant F995L 2985C>A UCEC-US 4 89426989 89426989 single base substitution C T exon_variant UCEC-US 4 89426989 89426989 single base substitution C T missense_variant A1012V 3035C>T UCEC-US 4 89426989 89426989 single base substitution C T missense_variant A650V 1949C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AA-A010-01 COSM281682 c.2422G>T p.E808* Substitution - Nonsense 4:88494309-88494309 + CSCC-55-T COSM4479850 c.2366C>T p.P789L Substitution - Missense 4:88494253-88494253 + QC2-18-T2 COSM5652638 c.1882_1883delAT p.F629fs*8 Deletion - Frameshift 4:88487099-88487100 + T2269 COSM4343551 c.2653C>T p.R885W Substitution - Missense 4:88504302-88504302 + ATL047 COSM5709389 c.2732G>A p.G911E Substitution - Missense 4:88504381-88504381 + C106 COSM4616319 c.529C>T p.P177S Substitution - Missense 4:88462197-88462197 + 58 COSM5013902 c.1556T>C p.M519T Substitution - Missense 4:88476004-88476004 + TCGA-D1-A15X-01 COSM1058813 c.1869A>G p.V623V Substitution - coding silent 4:88487086-88487086 + 4132_T COSM3946658 c.1940C>A p.T647K Substitution - Missense 4:88487157-88487157 + ME032T COSM227255 c.2342G>A p.C781Y Substitution - Missense 4:88494229-88494229 + CSCC-56-T COSM4486036 c.3001C>T p.P1001S Substitution - Missense 4:88505804-88505804 + TCGA-AA-A010-01 COSM281681 c.1544T>G p.V515G Substitution - Missense 4:88475992-88475992 + TCGA-BR-8372-01 COSM4126671 c.2401C>T p.P801S Substitution - Missense 4:88494288-88494288 + 1517_PT COSM5756534 c.952_953delTT p.S319fs*16 Deletion - Frameshift 4:88467099-88467100 + DLD1 COSM1671136 c.2626T>C p.S876P Substitution - Missense 4:88504275-88504275 + TCGA-EK-A2PG-01 COSM4819431 c.2467G>A p.D823N Substitution - Missense 4:88499948-88499948 + TCGA-AZ-4315-01 COSM1431690 c.1809T>A p.F603L Substitution - Missense 4:88486186-88486186 + TCGA-F4-6854-01 COSM1431694 c.2634G>T p.K878N Substitution - Missense 4:88504283-88504283 + PD18749a COSM5780594 c.697G>C p.D233H Substitution - Missense 4:88463540-88463540 + T3262 COSM4690147 c.1284delT p.L430fs*1 Deletion - Frameshift 4:88470659-88470659 + OSCC-GB_00530111 COSM4883333 c.1571C>T p.S524L Substitution - Missense 4:88476019-88476019 + TCGA-G4-6586-01 COSM1431687 c.944G>A p.G315E Substitution - Missense 4:88467091-88467091 + TCGA-25-1632-01 COSM77840 c.1442C>T p.S481F Substitution - Missense 4:88475890-88475890 + TCGA-B0-5075-01 COSM481670 c.795T>G p.F265L Substitution - Missense 4:88463869-88463869 + I2L-P7-Tumor-Organoid COSM2957554 c.1806delT p.F604fs*2 Deletion - Frameshift 4:88486183-88486183 + TCGA-IR-A3LA-01 COSM4844641 c.1791C>G p.L597L Substitution - coding silent 4:88486168-88486168 + T3080 COSM4690150 c.2134-2A>G p.? Unknown 4:88493010-88493010 + S01578 COSM5670547 c.2622C>A p.N874K Substitution - Missense 4:88504271-88504271 + OSCC-GB_00530111 COSM4883332 c.1571C>T p.S524L Substitution - Missense 4:88476019-88476019 + TCGA-CG-5721-01 COSM4126673 c.2624A>G p.D875G Substitution - Missense 4:88504273-88504273 + HCC2998 COSM4631772 c.147G>C p.R49S Substitution - Missense 4:88457416-88457416 + QC2-18-T2 COSM5652639 c.1882_1883delAT p.F629fs*8 Deletion - Frameshift 4:88487099-88487100 + TCGA-A2-A0T0-01 COSM448323 c.1034C>A p.S345* Substitution - Nonsense 4:88467181-88467181 + STC252 COSM5060534 c.2654G>A p.R885Q Substitution - Missense 4:88504303-88504303 + TCGA-AP-A054-01 COSM1058809 c.1583A>C p.E528A Substitution - Missense 4:88479353-88479353 + LUAD-RT-S01840 COSM384809 c.1057+1G>A p.? Unknown 4:88467205-88467205 + B104-0 COSM1753873 c.2012G>C p.R671T Substitution - Missense 4:88489215-88489215 + HCT-15 COSM1671136 c.2626T>C p.S876P Substitution - Missense 4:88504275-88504275 + S0080 COSM5884060 c.2384A>C p.K795T Substitution - Missense 4:88494271-88494271 + TCGA-EI-6917-01 COSM4343551 c.2653C>T p.R885W Substitution - Missense 4:88504302-88504302 + SJOS014_D COSM5023655 c.466+10C>A p.? Unknown 4:88460181-88460181 + C106 COSM4616321 c.2637G>A p.A879A Substitution - coding silent 4:88504286-88504286 + T3080 COSM4690142 c.161G>A p.R54H Substitution - Missense 4:88457430-88457430 + TCGA-D1-A16N-01 COSM1058817 c.2156G>T p.G719V Substitution - Missense 4:88493034-88493034 + ESCC_118 COSM5640303 c.1037C>G p.S346* Substitution - Nonsense 4:88467184-88467184 + YUDUTY COSM1694670 c.2245G>T p.E749* Substitution - Nonsense 4:88493123-88493123 + TCGA-F5-6814-01 COSM5826293 c.2388T>G p.L796L Substitution - coding silent 4:88494275-88494275 + TCGA-BR-8680-01 COSM4126648 c.334C>A p.L112I Substitution - Missense 4:88459415-88459415 + CSCC-15-T COSM4472150 c.1763C>T p.P588L Substitution - Missense 4:88486140-88486140 + ESO-887 COSM1254141 c.1765G>A p.E589K Substitution - Missense 4:88486142-88486142 + TCGA-34-2608-01 COSM735347 c.2683G>C p.D895H Substitution - Missense 4:88504332-88504332 + S02286 COSM5702124 c.1298_1298+1GG>TT p.? Unknown 4:88470673-88470674 + TCGA-F5-6814-01 COSM3428757 c.2123A>C p.K708T Substitution - Missense 4:88489326-88489326 + TCGA-EE-A29P-06 COSM3606920 c.705C>T p.S235S Substitution - coding silent 4:88463548-88463548 + TCGA-C5-A7CL-01 COSM4837958 c.3043G>A p.E1015K Substitution - Missense 4:88505846-88505846 + T3262 COSM4690146 c.1284delT p.L430fs*1 Deletion - Frameshift 4:88470659-88470659 + pfg181T COSM2957554 c.1806delT p.F604fs*2 Deletion - Frameshift 4:88486183-88486183 + TCGA-HU-A4GQ-01 COSM4126665 c.1854C>T p.D618D Substitution - coding silent 4:88487071-88487071 + TCGA-AX-A0J1-01 COSM1058821 c.2325A>G p.G775G Substitution - coding silent 4:88494212-88494212 + 16461 COSM5617239 c.2512-8G>A p.? Unknown 4:88500907-88500907 + TCGA-AA-3715-01 COSM269307 c.1157G>T p.R386M Substitution - Missense 4:88469179-88469179 + TCGA-CG-5733-01 COSM4126676 c.2706C>T p.P902P Substitution - coding silent 4:88504355-88504355 + TCGA-AP-A059-01 COSM1058811 c.1833C>T p.Y611Y Substitution - coding silent 4:88486210-88486210 + YUFERY COSM5401807 c.705C>T p.S235S Substitution - coding silent 4:88463548-88463548 + LPJ108 COSM1316262 c.2578A>G p.N860D Substitution - Missense 4:88500981-88500981 + PT46 COSM5928598 c.781-6C>T p.? Unknown 4:88463849-88463849 + pfg001T COSM1642541 c.638A>G p.Y213C Substitution - Missense 4:88462306-88462306 + TCGA-F5-6814-01 COSM5826294 c.2425C>T p.L809F Substitution - Missense 4:88494312-88494312 + S02286 COSM5702123 c.1298_1298+1GG>TT p.? Unknown 4:88470673-88470674 + 61 COSM5737026 c.624G>A p.M208I Substitution - Missense 4:88462292-88462292 + B80-13-Tumor COSM4005815 c.843G>C p.Q281H Substitution - Missense 4:88463917-88463917 + CSCC-52-T COSM4524795 c.1292G>A p.R431K Substitution - Missense 4:88470667-88470667 + CSCC-55-T COSM4479851 c.2366C>T p.P789L Substitution - Missense 4:88494253-88494253 + TCGA-EK-A3GK-01 COSM4854107 c.2828C>G p.A943G Substitution - Missense 4:88504556-88504556 + TCGA-D7-8572-01 COSM4126658 c.1034C>T p.S345L Substitution - Missense 4:88467181-88467181 + TCGA-A4-7734-01 COSM3993851 c.2055C>G p.V685V Substitution - coding silent 4:88489258-88489258 + CSCC-31-T COSM4550888 c.512G>A p.G171E Substitution - Missense 4:88462180-88462180 + LS180 COSM4614339 c.1283_1284insT p.L430fs*18 Insertion - Frameshift 4:88470658-88470659 + 4132_T COSM3946659 c.1940C>A p.T647K Substitution - Missense 4:88487157-88487157 + NCI-H128 COSM23124 c.1298+2T>A p.? Unknown 4:88470675-88470675 + ESCC_35 COSM5628667 c.2098C>T p.Q700* Substitution - Nonsense 4:88489301-88489301 + CHC1061T COSM217325 c.752G>A p.G251D Substitution - Missense 4:88463595-88463595 + WSU-HN6 COSM4602122 c.2190C>A p.F730L Substitution - Missense 4:88493068-88493068 + PD4200a COSM161516 c.375C>A p.S125R Substitution - Missense 4:88459456-88459456 + TCGA-BR-4362-01 COSM4126660 c.1066A>G p.T356A Substitution - Missense 4:88468354-88468354 + KM12 COSM4612809 c.1805_1806insT p.V605fs*33 Insertion - Frameshift 4:88486182-88486183 + T207 COSM4690149 c.1720T>C p.L574L Substitution - coding silent 4:88479490-88479490 + T3080 COSM4690143 c.161G>A p.R54H Substitution - Missense 4:88457430-88457430 + CSCC-10-T COSM4484881 c.2866C>T p.L956F Substitution - Missense 4:88504594-88504594 + TCGA-51-4079-01 COSM735350 c.1579C>A p.L527M Substitution - Missense 4:88476027-88476027 + S01578 COSM5670548 c.2622C>A p.N874K Substitution - Missense 4:88504271-88504271 + LUAD_E00623 COSM392780 c.409_410insA p.I140fs*19 Insertion - Frameshift 4:88460114-88460115 + ORL-48 COSM4596422 c.2236A>C p.M746L Substitution - Missense 4:88493114-88493114 + LUAD-E00934 COSM393687 c.1186G>T p.V396L Substitution - Missense 4:88469208-88469208 + 40M COSM5585419 c.2512-1G>A p.? Unknown 4:88500914-88500914 + ESCC_10 COSM5623977 c.405A>T p.L135F Substitution - Missense 4:88460110-88460110 + STC252 COSM5060535 c.2654G>A p.R885Q Substitution - Missense 4:88504303-88504303 + YUFERY COSM3606920 c.705C>T p.S235S Substitution - coding silent 4:88463548-88463548 + TCGA-CG-4305-01 COSM4126645 c.292A>G p.K98E Substitution - Missense 4:88459373-88459373 + ME018T COSM225196 c.956C>T p.S319F Substitution - Missense 4:88467103-88467103 + TCGA-AP-A059-01 COSM1058801 c.1265C>A p.P422H Substitution - Missense 4:88470640-88470640 + TCGA-CM-6675-01 COSM1431686 c.416A>T p.K139I Substitution - Missense 4:88460121-88460121 + S0080 COSM5884061 c.2384A>C p.K795T Substitution - Missense 4:88494271-88494271 + CHC1775T COSM4800927 c.1799G>A p.R600H Substitution - Missense 4:88486176-88486176 + ESCC_10 COSM5623978 c.405A>T p.L135F Substitution - Missense 4:88460110-88460110 + TCGA-D1-A16J-01 COSM1058805 c.1453G>A p.E485K Substitution - Missense 4:88475901-88475901 + CSCC-31-T COSM225196 c.956C>T p.S319F Substitution - Missense 4:88467103-88467103 + TCGA-BR-4292-01 COSM4126655 c.1017G>A p.P339P Substitution - coding silent 4:88467164-88467164 + Pat_32_A COSM5866927 c.1015C>T p.P339S Substitution - Missense 4:88467162-88467162 + LIM2405 COSM4642922 c.770T>C p.L257P Substitution - Missense 4:88463613-88463613 + T3080 COSM4690151 c.2134-2A>G p.? Unknown 4:88493010-88493010 + NCI-H2126 COSM23125 c.2092C>T p.L698L Substitution - coding silent 4:88489295-88489295 + TCGA-BS-A0UF-01 COSM1058819 c.2297G>T p.R766I Substitution - Missense 4:88494184-88494184 + sysucc-783T COSM5484727 c.131G>A p.R44H Substitution - Missense 4:88457400-88457400 + 61 COSM5737027 c.1513T>C p.W505R Substitution - Missense 4:88475961-88475961 + TCGA-AC-A23H-01 COSM3826425 c.2113G>C p.D705H Substitution - Missense 4:88489316-88489316 + TCGA-F5-6814-01 COSM3428758 c.2388T>G p.L796L Substitution - coding silent 4:88494275-88494275 + LP6005409-DNA_H01 COSM1254140 c.2636C>T p.A879V Substitution - Missense 4:88504285-88504285 + TCGA-AA-3510-01 COSM5099782 c.2664T>G p.F888L Substitution - Missense 4:88504313-88504313 + CSCC-31-T COSM4566893 c.502_503GG>AA p.G168K Substitution - Missense 4:88462170-88462171 + TCGA-D1-A103-01 COSM1058834 c.3035C>T p.A1012V Substitution - Missense 4:88505838-88505838 + T207 COSM4690148 c.1720T>C p.L574L Substitution - coding silent 4:88479490-88479490 + PT50 COSM5937148 c.3031G>A p.E1011K Substitution - Missense 4:88505834-88505834 + STC252 COSM4343552 c.2680G>A p.E894K Substitution - Missense 4:88504329-88504329 + 58 COSM5013903 c.1556T>C p.M519T Substitution - Missense 4:88476004-88476004 + PT46 COSM5928599 c.781-5C>T p.? Unknown 4:88463850-88463850 + ATL047 COSM5709390 c.2732G>A p.G911E Substitution - Missense 4:88504381-88504381 + CSCC-52-T COSM4524796 c.1292G>A p.R431K Substitution - Missense 4:88470667-88470667 + TCGA-39-5029-01 COSM735352 c.781-2A>G p.? Unknown 4:88463853-88463853 + TCGA-D3-A2J7-06 COSM3606919 c.202C>T p.R68C Substitution - Missense 4:88457471-88457471 + TCGA-A4-7734-01 COSM3993850 c.2055C>G p.V685V Substitution - coding silent 4:88489258-88489258 + B104-0-Tumor COSM1753873 c.2012G>C p.R671T Substitution - Missense 4:88489215-88489215 + TCGA-EE-A2MT-06 COSM3606927 c.2459T>A p.L820H Substitution - Missense 4:88499940-88499940 + TCGA-HU-A4GX-01 COSM4126667 c.2219C>T p.P740L Substitution - Missense 4:88493097-88493097 + TCGA-EI-6510-01 COSM5078539 c.2722G>T p.V908L Substitution - Missense 4:88504371-88504371 + TCGA-BG-A0YV-01 COSM1058793 c.460T>C p.S154P Substitution - Missense 4:88460165-88460165 + Pat_01_B COSM5866930 c.2704C>T p.P902S Substitution - Missense 4:88504353-88504353 + TCGA-EI-6510-01 COSM1567208 c.2722G>T p.V908L Substitution - Missense 4:88504371-88504371 + TCGA-B0-4712-01 COSM481669 c.490C>G p.Q164E Substitution - Missense 4:88462158-88462158 + CHC1061T COSM217325 c.752G>A p.G251D Substitution - Missense 4:88463595-88463595 + 1517_PT COSM5756535 c.952_953delTT p.S319fs*16 Deletion - Frameshift 4:88467099-88467100 + 1_RESISTANT COSM392780 c.409_410insA p.I140fs*19 Insertion - Frameshift 4:88460114-88460115 + TCGA-AD-6965-01 COSM5131977 c.389+1G>T p.? Unknown 4:88459471-88459471 + GC_370T-GC_370N COSM4773006 c.1670G>T p.W557L Substitution - Missense 4:88479440-88479440 + TCGA-IR-A3LA-01 COSM4844642 c.1791C>G p.L597L Substitution - coding silent 4:88486168-88486168 + CHC1061T COSM217325 c.752G>A p.G251D Substitution - Missense 4:88463595-88463595 + TCGA-B5-A11E-01 COSM1058828 c.2679C>T p.D893D Substitution - coding silent 4:88504328-88504328 + TCGA-BF-A1PX-01 COSM4905379 c.2413G>A p.D805N Substitution - Missense 4:88494300-88494300 + T2269 COSM4690145 c.1250A>G p.E417G Substitution - Missense 4:88470625-88470625 + T2269 COSM71047 c.2653C>T p.R885W Substitution - Missense 4:88504302-88504302 + Pat_66_A COSM5866924 c.574_575CC>AT p.P192I Substitution - Missense 4:88462242-88462243 + TCGA-BS-A0UF-01 COSM1058832 c.2985C>A p.F995L Substitution - Missense 4:88505788-88505788 + 10-P083 COSM4585283 c.1332C>A p.D444E Substitution - Missense 4:88472442-88472442 + TCGA-BF-A1PX-01 COSM4905378 c.2413G>A p.D805N Substitution - Missense 4:88494300-88494300 + LUAD-B01970 COSM356163 c.2629G>T p.V877L Substitution - Missense 4:88504278-88504278 + S0080 COSM5884063 c.2387T>G p.L796R Substitution - Missense 4:88494274-88494274 + CSCC-49-T COSM4533551 c.1992G>A p.S664S Substitution - coding silent 4:88489195-88489195 + CHC451T COSM4957259 c.2500A>G p.I834V Substitution - Missense 4:88499981-88499981 + 24T COSM107764 c.2364C>T p.F788F Substitution - coding silent 4:88494251-88494251 + GC_370T-GC_370N COSM4773007 c.1670G>T p.W557L Substitution - Missense 4:88479440-88479440 + LIM1215 COSM2957554 c.1806delT p.F604fs*2 Deletion - Frameshift 4:88486183-88486183 + LUAD-B01811 COSM334613 c.1016C>A p.P339Q Substitution - Missense 4:88467163-88467163 + sysucc-783T COSM5484728 c.131G>A p.R44H Substitution - Missense 4:88457400-88457400 + Pat_01_B COSM5866931 c.2704C>T p.P902S Substitution - Missense 4:88504353-88504353 + sysucc-731T COSM4343551 c.2653C>T p.R885W Substitution - Missense 4:88504302-88504302 + ESCC_35 COSM5628666 c.2098C>T p.Q700* Substitution - Nonsense 4:88489301-88489301 + TCGA-BH-A0DZ-01 COSM5195138 c.1034C>A p.S345* Substitution - Nonsense 4:88467181-88467181 + HCC2998 COSM4631771 c.147G>C p.R49S Substitution - Missense 4:88457416-88457416 + 113364 COSM95946 c.2676C>T p.C892C Substitution - coding silent 4:88504325-88504325 + TCGA-F5-6814-01 COSM5826291 c.1245C>T p.I415I Substitution - coding silent 4:88470620-88470620 + 16461 COSM5615429 c.544C>A p.P182T Substitution - Missense 4:88462212-88462212 + PCSI_0109_Pa_P_526 COSM4962995 c.2464G>T p.D822Y Substitution - Missense 4:88499945-88499945 + ACA21 COSM5961551 c.787C>T p.L263L Substitution - coding silent 4:88463861-88463861 + TCGA-66-2782-01 COSM735348 c.1656C>A p.C552* Substitution - Nonsense 4:88479426-88479426 + TCGA-BR-6452-01 COSM4126651 c.771A>G p.L257L Substitution - coding silent 4:88463614-88463614 + TCGA-EE-A3JB-06 COSM4898731 c.419T>A p.I140K Substitution - Missense 4:88460124-88460124 + PT46 COSM5928600 c.781-5C>T p.? Unknown 4:88463850-88463850 + Pat_01_A COSM5866931 c.2704C>T p.P902S Substitution - Missense 4:88504353-88504353 + sysucc-731T COSM71047 c.2653C>T p.R885W Substitution - Missense 4:88504302-88504302 + S00945 COSM5664512 c.1030G>A p.V344I Substitution - Missense 4:88467177-88467177 + LC_C25 COSM1186612 c.925G>T p.A309S Substitution - Missense 4:88467072-88467072 + Pat_41_B COSM5866929 c.1829G>A p.R610K Substitution - Missense 4:88486206-88486206 + TCGA-D7-A4YT-01 COSM4126654 c.887G>A p.R296K Substitution - Missense 4:88463961-88463961 + YUGASP COSM1694669 c.893C>T p.T298I Substitution - Missense 4:88463967-88463967 + Pat_66_A COSM4898731 c.419T>A p.I140K Substitution - Missense 4:88460124-88460124 + TCGA-F4-6854-01 COSM5173432 c.2634G>T p.K878N Substitution - Missense 4:88504283-88504283 + TCGA-HU-A4GQ-01 COSM4126666 c.1854C>T p.D618D Substitution - coding silent 4:88487071-88487071 + TCGA-D7-8572-01 COSM4126657 c.1034C>T p.S345L Substitution - Missense 4:88467181-88467181 + pfg180T COSM4747601 c.2995_3006del12 p.F999_K1002delFLPK Deletion - In frame 4:88505798-88505809 + TCGA-66-2782-01 COSM735346 c.3074G>T p.*1025L Nonstop extension 4:88505877-88505877 + TCGA-F5-6814-01 COSM5826292 c.2123A>C p.K708T Substitution - Missense 4:88489326-88489326 + TCGA-HU-A4H8-01 COSM4126669 c.2398A>G p.M800V Substitution - Missense 4:88494285-88494285 + CHC1775T COSM4800926 c.1799G>A p.R600H Substitution - Missense 4:88486176-88486176 + T578 COSM4690152 c.2187C>A p.F729L Substitution - Missense 4:88493065-88493065 + LP6005409-DNA_H01 COSM4410040 c.2636C>T p.A879V Substitution - Missense 4:88504285-88504285 + TCGA-EK-A2PG-01 COSM4819430 c.2467G>A p.D823N Substitution - Missense 4:88499948-88499948 + TCGA-AX-A0J0-01 COSM1058803 c.1430T>G p.L477R Substitution - Missense 4:88475878-88475878 + LS174T COSM4614339 c.1283_1284insT p.L430fs*18 Insertion - Frameshift 4:88470658-88470659 + WSU-HN6 COSM4602121 c.2190C>A p.F730L Substitution - Missense 4:88493068-88493068 + TCGA-BR-4292-01 COSM4126656 c.1017G>A p.P339P Substitution - coding silent 4:88467164-88467164 + TCGA-AP-A0LM-01 COSM1058834 c.3035C>T p.A1012V Substitution - Missense 4:88505838-88505838 + TCGA-AA-3848-01 COSM271760 c.1879G>A p.V627I Substitution - Missense 4:88487096-88487096 + WSU-HN13 COSM4601936 c.2482T>C p.F828L Substitution - Missense 4:88499963-88499963 + TCGA-EE-A185-06 COSM3606924 c.1165C>T p.P389S Substitution - Missense 4:88469187-88469187 + TCGA-BR-A4J4-01 COSM4126663 c.1298+1G>A p.? Unknown 4:88470674-88470674 + TCGA-AA-3664-01 COSM292572 c.2637G>A p.A879A Substitution - coding silent 4:88504286-88504286 + LUAD-F00162 COSM366475 c.1596A>C p.A532A Substitution - coding silent 4:88479366-88479366 + S00945 COSM311756 c.1030G>A p.V344I Substitution - Missense 4:88467177-88467177 + TCGA-BR-4362-01 COSM4126659 c.1066A>G p.T356A Substitution - Missense 4:88468354-88468354 + Pat_66_A COSM4898732 c.419T>A p.I140K Substitution - Missense 4:88460124-88460124 + CSCC-31-T COSM4566894 c.502_503GG>AA p.G168K Substitution - Missense 4:88462170-88462171 + C106 COSM4616320 c.529C>T p.P177S Substitution - Missense 4:88462197-88462197 + TCGA-EI-6917-01 COSM71047 c.2653C>T p.R885W Substitution - Missense 4:88504302-88504302 + TCGA-G4-6586-01 COSM5178191 c.944G>A p.G315E Substitution - Missense 4:88467091-88467091 + TCGA-BH-A0DZ-01 COSM448323 c.1034C>A p.S345* Substitution - Nonsense 4:88467181-88467181 + HCT15 COSM4343549 c.2626T>C p.S876P Substitution - Missense 4:88504275-88504275 + TCGA-04-1336-01 COSM81261 c.1848T>C p.T616T Substitution - coding silent 4:88486225-88486225 + S00945 COSM311756 c.1030G>A p.V344I Substitution - Missense 4:88467177-88467177 + sysucc-783T COSM5484730 c.2792A>G p.N931S Substitution - Missense 4:88504520-88504520 + PD18749a COSM5780593 c.697G>C p.D233H Substitution - Missense 4:88463540-88463540 + TCGA-HU-A4G8-01 COSM4126650 c.745G>A p.A249T Substitution - Missense 4:88463588-88463588 + TCGA-AC-A23H-01 COSM3826424 c.2113G>C p.D705H Substitution - Missense 4:88489316-88489316 + SNUH_G16_S1 COSM4003184 c.2583-3A>C p.? Unknown 4:88504229-88504229 + T3024 COSM4690154 c.2472A>C p.E824D Substitution - Missense 4:88499953-88499953 + PT46 COSM5928597 c.781-6C>T p.? Unknown 4:88463849-88463849 + TCGA-F5-6814-01 COSM3749893 c.1245C>T p.I415I Substitution - coding silent 4:88470620-88470620 + pfg180T COSM4758635 c.3007T>C p.Y1003H Substitution - Missense 4:88505810-88505810 + SJOS014_D COSM5023654 c.466+10C>A p.? Unknown 4:88460181-88460181 + TCGA-EE-A29M-06 COSM3606921 c.706C>T p.L236F Substitution - Missense 4:88463549-88463549 + CHC451T COSM4957260 c.2500A>G p.I834V Substitution - Missense 4:88499981-88499981 + B104-0-Tumor COSM4005816 c.2012G>C p.R671T Substitution - Missense 4:88489215-88489215 + PCSI_0077_Pa_P_526 COSM1209602 c.1919C>T p.S640L Substitution - Missense 4:88487136-88487136 + TCGA-BS-A0UF-01 COSM1058830 c.2931T>G p.F977L Substitution - Missense 4:88505734-88505734 + TCGA-B5-A11G-01 COSM1058823 c.2424A>G p.E808E Substitution - coding silent 4:88494311-88494311 + Pat_32_A COSM5866926 c.1015C>T p.P339S Substitution - Missense 4:88467162-88467162 + LC_S46 COSM1186613 c.1771A>C p.I591L Substitution - Missense 4:88486148-88486148 + ME011T COSM224261 c.110C>T p.P37L Substitution - Missense 4:88457379-88457379 + CSCC-31-T COSM4550889 c.512G>A p.G171E Substitution - Missense 4:88462180-88462180 + T3024 COSM4690155 c.2472A>C p.E824D Substitution - Missense 4:88499953-88499953 + SNUH_G16_S1 COSM4003183 c.2583-3A>C p.? Unknown 4:88504229-88504229 + WSU-HN13 COSM4601937 c.2482T>C p.F828L Substitution - Missense 4:88499963-88499963 + CHC1775T COSM4800926 c.1799G>A p.R600H Substitution - Missense 4:88486176-88486176 + TCGA-G9-6370-01 COSM1131003 c.2429G>T p.S810I Substitution - Missense 4:88494316-88494316 + TCGA-BS-A0TC-01 COSM1058825 c.2461C>T p.L821L Substitution - coding silent 4:88499942-88499942 + Pat_01_A COSM5866930 c.2704C>T p.P902S Substitution - Missense 4:88504353-88504353 + LIM1215 COSM4337766 c.1806delT p.F604fs*2 Deletion - Frameshift 4:88486183-88486183 + TCGA-D1-A17Q-01 COSM1058815 c.1915C>A p.L639M Substitution - Missense 4:88487132-88487132 + TCGA-D1-A16J-01 COSM1058807 c.1557G>A p.M519I Substitution - Missense 4:88476005-88476005 + TCGA-EE-A29V-06 COSM3606925 c.1177G>A p.E393K Substitution - Missense 4:88469199-88469199 + 186T COSM1726462 c.1303A>G p.T435A Substitution - Missense 4:88472413-88472413 + PCSI_0109_Pa_P COSM3381005 c.2464G>T p.D822Y Substitution - Missense 4:88499945-88499945 + TCGA-EE-A3JB-06 COSM4898732 c.419T>A p.I140K Substitution - Missense 4:88460124-88460124 + TCGA-BR-6452-01 COSM4126652 c.771A>G p.L257L Substitution - coding silent 4:88463614-88463614 + TCGA-BP-4965-01 COSM1495886 c.685G>A p.E229K Substitution - Missense 4:88462353-88462353 + TCGA-AZ-4615-01 COSM5140068 c.2622C>T p.N874N Substitution - coding silent 4:88504271-88504271 + pfg180T COSM4747600 c.2995_3006del12 p.F999_K1002delFLPK Deletion - In frame 4:88505798-88505809 + TCGA-BR-8680-01 COSM4126647 c.334C>A p.L112I Substitution - Missense 4:88459415-88459415 + ML_06_T_01 COSM5037705 c.1335A>G p.L445L Substitution - coding silent 4:88472445-88472445 + TCGA-C5-A7CL-01 COSM4837957 c.3043G>A p.E1015K Substitution - Missense 4:88505846-88505846 + TCGA-13-0923-01 COSM71046 c.2378T>G p.F793C Substitution - Missense 4:88494265-88494265 + CHC451T COSM4957260 c.2500A>G p.I834V Substitution - Missense 4:88499981-88499981 + PD4937a COSM161517 c.1783G>C p.D595H Substitution - Missense 4:88486160-88486160 + 587376 COSM1209603 c.1991C>T p.S664L Substitution - Missense 4:88489194-88489194 + 587222 COSM1209601 c.338C>A p.S113* Substitution - Nonsense 4:88459419-88459419 + 10-P083 COSM4585284 c.1332C>A p.D444E Substitution - Missense 4:88472442-88472442 + TCGA-24-0979-01 COSM71047 c.2653C>T p.R885W Substitution - Missense 4:88504302-88504302 + 61 COSM5737028 c.1513T>C p.W505R Substitution - Missense 4:88475961-88475961 + TCGA-HU-A4H8-01 COSM4126670 c.2398A>G p.M800V Substitution - Missense 4:88494285-88494285 + ESCC_35 COSM5628665 c.51G>A p.A17A Substitution - coding silent 4:88457320-88457320 + SJHGG015_D COSM4969212 c.594C>T p.A198A Substitution - coding silent 4:88462262-88462262 + HCT8 COSM4343549 c.2626T>C p.S876P Substitution - Missense 4:88504275-88504275 + Pat_41_B COSM5866928 c.1829G>A p.R610K Substitution - Missense 4:88486206-88486206 + PD24205a COSM5787296 c.1958T>C p.I653T Substitution - Missense 4:88487175-88487175 + CSCC-31-T COSM4513952 c.956C>T p.S319F Substitution - Missense 4:88467103-88467103 + ML_06_T_01 COSM5037706 c.1335A>G p.L445L Substitution - coding silent 4:88472445-88472445 + LUAD-F00282 COSM367356 c.2607C>T p.I869I Substitution - coding silent 4:88504256-88504256 + ORL-48 COSM4596423 c.2236A>C p.M746L Substitution - Missense 4:88493114-88493114 + PD24205a COSM5787297 c.1958T>C p.I653T Substitution - Missense 4:88487175-88487175 + CSCC-49-T COSM4552752 c.569G>A p.G190E Substitution - Missense 4:88462237-88462237 + TCGA-66-2768-01 COSM735349 c.1594G>A p.A532T Substitution - Missense 4:88479364-88479364 + TCGA-AZ-4315-01 COSM5829980 c.1809T>A p.F603L Substitution - Missense 4:88486186-88486186 + TCGA-DS-A0VK-01 COSM462112 c.1155G>A p.K385K Substitution - coding silent 4:88469177-88469177 + CSCC-10-T COSM4484880 c.2866C>T p.L956F Substitution - Missense 4:88504594-88504594 + CSCC-49-T COSM4552753 c.569G>A p.G190E Substitution - Missense 4:88462237-88462237 + AOCS-079-1-1 COSM4138546 c.2582+8C>G p.? Unknown 4:88500993-88500993 + sysucc-783T COSM5484729 c.2792A>G p.N931S Substitution - Missense 4:88504520-88504520 + CSCC-49-T COSM4533552 c.1992G>A p.S664S Substitution - coding silent 4:88489195-88489195 + TCGA-BP-5184-01 COSM481671 c.2691C>T p.I897I Substitution - coding silent 4:88504340-88504340 + TCGA-EE-A29L-06 COSM3606923 c.1139C>T p.S380L Substitution - Missense 4:88469161-88469161 + CHC451T COSM4957259 c.2500A>G p.I834V Substitution - Missense 4:88499981-88499981 + C106 COSM292572 c.2637G>A p.A879A Substitution - coding silent 4:88504286-88504286 + ESCC_35 COSM5628664 c.51G>A p.A17A Substitution - coding silent 4:88457320-88457320 + TCGA-BR-8680-01 COSM4126662 c.1139C>A p.S380* Substitution - Nonsense 4:88469161-88469161 + TCGA-D1-A177-01 COSM1058799 c.1062C>T p.S354S Substitution - coding silent 4:88468350-88468350 + AOCS-079-1-1 COSM4138547 c.2582+8C>G p.? Unknown 4:88500993-88500993 + ESCC_118 COSM5640302 c.1037C>G p.S346* Substitution - Nonsense 4:88467184-88467184 + KM12 COSM4612810 c.1805_1806insT p.V605fs*33 Insertion - Frameshift 4:88486182-88486183 + T2269 COSM4690144 c.1250A>G p.E417G Substitution - Missense 4:88470625-88470625 + TCGA-BR-8680-01 COSM4126661 c.1139C>A p.S380* Substitution - Nonsense 4:88469161-88469161 + pfg180T COSM4758636 c.3007T>C p.Y1003H Substitution - Missense 4:88505810-88505810 + TCGA-F5-6814-01 COSM3428759 c.2425C>T p.L809F Substitution - Missense 4:88494312-88494312 + LIM2405 COSM4642921 c.770T>C p.L257P Substitution - Missense 4:88463613-88463613 + PT50 COSM5937147 c.3031G>A p.E1011K Substitution - Missense 4:88505834-88505834 + T578 COSM4690153 c.2187C>A p.F729L Substitution - Missense 4:88493065-88493065 + TCGA-CM-6675-01 COSM5160905 c.416A>T p.K139I Substitution - Missense 4:88460121-88460121 + HCC085T COSM5808243 c.469G>A p.G157S Substitution - Missense 4:88462137-88462137 + ESO-185 COSM1254139 c.2167G>A p.G723R Substitution - Missense 4:88493045-88493045 + CSCC-56-T COSM4486035 c.3001C>T p.P1001S Substitution - Missense 4:88505804-88505804 + TCGA-AM-5820-01 COSM3760829 c.1492A>G p.M498V Substitution - Missense 4:88475940-88475940 + CHC1775T COSM4800927 c.1799G>A p.R600H Substitution - Missense 4:88486176-88486176 + SJHGG015_D COSM4969213 c.594C>T p.A198A Substitution - coding silent 4:88462262-88462262 + STC252 COSM2957568 c.2680G>A p.E894K Substitution - Missense 4:88504329-88504329 + Pat_66_A COSM5866925 c.574_575CC>AT p.P192I Substitution - Missense 4:88462242-88462243 + 43T COSM109230 c.2166C>T p.L722L Substitution - coding silent 4:88493044-88493044 + ACA21 COSM5961552 c.787C>T p.L263L Substitution - coding silent 4:88463861-88463861 + TCGA-HU-A4GX-01 COSM4126668 c.2219C>T p.P740L Substitution - Missense 4:88493097-88493097 + TCGA-D3-A3MU-06 COSM3606922 c.1082T>A p.L361* Substitution - Nonsense 4:88468370-88468370 + TCGA-AA-3510-01 COSM1431696 c.2664T>G p.F888L Substitution - Missense 4:88504313-88504313 + LS180 COSM4614338 c.1283_1284insT p.L430fs*18 Insertion - Frameshift 4:88470658-88470659 + TCGA-D1-A15X-01 COSM71047 c.2653C>T p.R885W Substitution - Missense 4:88504302-88504302 + TCGA-CG-4305-01 COSM4126646 c.292A>G p.K98E Substitution - Missense 4:88459373-88459373 + TCGA-A2-A0T0-01 COSM5195138 c.1034C>A p.S345* Substitution - Nonsense 4:88467181-88467181 + pfg181T COSM4337766 c.1806delT p.F604fs*2 Deletion - Frameshift 4:88486183-88486183 + TCGA-AZ-4615-01 COSM3696777 c.2622C>T p.N874N Substitution - coding silent 4:88504271-88504271 + 61 COSM5737025 c.624G>A p.M208I Substitution - Missense 4:88462292-88462292 + TCGA-DK-A3IK-01 COSM1310362 c.867G>T p.V289V Substitution - coding silent 4:88463941-88463941 + B80-13 COSM1753872 c.843G>C p.Q281H Substitution - Missense 4:88463917-88463917 + 16461 COSM5615430 c.544C>A p.P182T Substitution - Missense 4:88462212-88462212 + TCGA-FW-A3TU-06 COSM3606926 c.2160T>A p.Y720* Substitution - Nonsense 4:88493038-88493038 + TCGA-CG-5721-01 COSM4126674 c.2624A>G p.D875G Substitution - Missense 4:88504273-88504273 + YUHEF COSM225196 c.956C>T p.S319F Substitution - Missense 4:88467103-88467103 + CSCC-15-T COSM4472149 c.1763C>T p.P588L Substitution - Missense 4:88486140-88486140 + TCGA-BR-8372-01 COSM4126672 c.2401C>T p.P801S Substitution - Missense 4:88494288-88494288 + I2L-P7-Tumor-Organoid COSM4337766 c.1806delT p.F604fs*2 Deletion - Frameshift 4:88486183-88486183 + 40M COSM5585418 c.2512-1G>A p.? Unknown 4:88500914-88500914 + B80-13-Tumor COSM1753872 c.843G>C p.Q281H Substitution - Missense 4:88463917-88463917 + ESO-512 COSM1254140 c.2636C>T p.A879V Substitution - Missense 4:88504285-88504285 + S0080 COSM5884062 c.2387T>G p.L796R Substitution - Missense 4:88494274-88494274 + CHC1061T COSM5349329 c.752G>A p.G251D Substitution - Missense 4:88463595-88463595 + TCGA-BR-A4J4-01 COSM4126664 c.1298+1G>A p.? Unknown 4:88470674-88470674 + 16461 COSM588572 c.2512-8G>A p.? Unknown 4:88500907-88500907 + DLD1 COSM4343549 c.2626T>C p.S876P Substitution - Missense 4:88504275-88504275 + PCSI_0109_Pa_P_526 COSM3381005 c.2464G>T p.D822Y Substitution - Missense 4:88499945-88499945 + TCGA-D7-A4YT-01 COSM4126653 c.887G>A p.R296K Substitution - Missense 4:88463961-88463961 + TCGA-HU-A4G8-01 COSM4126649 c.745G>A p.A249T Substitution - Missense 4:88463588-88463588 + HCT15 COSM1671136 c.2626T>C p.S876P Substitution - Missense 4:88504275-88504275 + 587376 COSM1209602 c.1919C>T p.S640L Substitution - Missense 4:88487136-88487136 + LS174T COSM4614338 c.1283_1284insT p.L430fs*18 Insertion - Frameshift 4:88470658-88470659 + TCGA-AP-A056-01 COSM1058795 c.527T>G p.F176C Substitution - Missense 4:88462195-88462195 + PCSI_0077_Pa_P_526 COSM4808526 c.1919C>T p.S640L Substitution - Missense 4:88487136-88487136 + TCGA-18-3409-01 COSM735353 c.670G>A p.G224S Substitution - Missense 4:88462338-88462338 + TCGA-AP-A059-01 COSM1058797 c.673C>A p.L225M Substitution - Missense 4:88462341-88462341 + TCGA-AD-6965-01 COSM1431684 c.389+1G>T p.? Unknown 4:88459471-88459471 + TCGA-CG-5733-01 COSM4126675 c.2706C>T p.P902P Substitution - coding silent 4:88504355-88504355 + TCGA-EK-A3GK-01 COSM4854106 c.2828C>G p.A943G Substitution - Missense 4:88504556-88504556 + HCT8 COSM1671136 c.2626T>C p.S876P Substitution - Missense 4:88504275-88504275 + HCC085T COSM5808242 c.469G>A p.G157S Substitution - Missense 4:88462137-88462137 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.26651;Hs.26663 4q22.1 608242

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E528A c.1583A>C 4 89400504 UCEC A G Missense p.K98E c.292A>G 4 89380524 STAD A G Missense p.Y213C c.638A>G 4 89383457 STAD A G SpliceAcceptorSNV . c.781-2A>G 4 89385004 LUSC A G Synonymous p.E808E c.2424A>G 4 89415462 UCEC A G Synonymous p.V605V c.1815A>G 4 89407343 HNSC A T SpliceAcceptorSNV . c.2134-2A>T 4 89414161 LUAD C A Missense p.L527M c.1579C>A 4 89397178 LUSC C A Missense p.P182T c.544C>A 4 89383363 NSCLC C A Missense p.P440H c.1319C>A 4 89393580 CM C A Missense p.S125R c.375C>A 4 89380607 BRCA C A Nonsense p.C552* c.1656C>A 4 89400577 LUSC C A Nonsense p.S345* c.1034C>A 4 89388332 BRCA C T IntronicSNV . c.2767-38C>T 4 89425608 CM C T Missense p.A879V c.2636C>T 4 89425436 ESCA C T Missense p.L236F c.706C>T 4 89384700 CM C T Missense p.P389S c.1165C>T 4 89390338 CM C T Missense p.P748S c.2242C>T 4 89414271 CM C T Missense p.P757S c.2269C>T 4 89414298 CM C T Missense p.R407W c.1219C>T 4 89390392 BRCA C T Missense p.R885W c.2653C>T 4 89425453 OV C T Missense p.S235F c.704C>T 4 89384698 CM C T Missense p.S319F c.956C>T 4 89388254 CM C T Missense p.S481F c.1442C>T 4 89397041 OV C T Synonymous p.F955F c.2865C>T 4 89425744 CM C T Synonymous p.I897I c.2691C>T 4 89425491 RCCC C T Synonymous p.L821L c.2461C>T 4 89421093 UCEC C T Synonymous p.P902P c.2706C>T 4 89425506 STAD C T Synonymous p.S235S c.705C>T 4 89384699 CM C T Synonymous p.S354S c.1062C>T 4 89389501 UCEC G A IntronicSNV . c.2512-8G>A 4 89422058 NSCLC G A Missense p.A532T c.1594G>A 4 89400515 LUSC G A Missense p.C781Y c.2342G>A 4 89415380 CM G A Missense p.D805N c.2413G>A 4 89415451 CM G A Missense p.E393K c.1177G>A 4 89390350 CM G A Missense p.E589K c.1765G>A 4 89407293 ESCA G A Missense p.E985K c.2953G>A 4 89426907 HNSC G A Missense p.G251D c.752G>A 4 89384746 HC G A Missense p.G252D c.755G>A 4 89384749 COREAD G A Missense p.M973I c.2919G>A 4 89426873 CM G A Missense p.V344I c.1030G>A 4 89388328 SCLC G A Missense p.V627I c.1879G>A 4 89408247 COREAD G A Synonymous p.A879A c.2637G>A 4 89425437 COREAD G A Synonymous p.G719G c.2157G>A 4 89414186 HNSC G A Synonymous p.P339P c.1017G>A 4 89388315 STAD G A Synonymous p.R579R c.1737G>A 4 89400658 CM G C Missense p.D595H c.1783G>C 4 89407311 BRCA G C Missense p.D895H c.2683G>C 4 89425483 LUSC G C Missense p.G190R c.568G>C 4 89383387 LUAD G C Missense p.S810T c.2429G>C 4 89415467 LUAD G T 3-UTRSNV . c.3072+2G>T 4 89427028 LUSC G T Missense p.G268C c.802G>T 4 89385027 LUAD G T Missense p.S810I c.2429G>T 4 89415467 PRAD G T Synonymous p.V289V c.867G>T 4 89385092 BLCA T A Missense p.I140K c.419T>A 4 89381275 CM T A Missense p.L820H c.2459T>A 4 89421091 CM T A Nonsense p.L361* c.1082T>A 4 89389521 CM T A Synonymous p.V694V c.2082T>A 4 89410436 STAD T C Synonymous p.T616T c.1848T>C 4 89407376 OV T - Frameshift p.A784Pfs*23 c.2349delT 4 89415386 BLCA T G Missense p.F265L c.795T>G 4 89385020 RCCC T G Missense p.F793C c.2378T>G 4 89415416 OV