Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 6 76380283 76380283 + Silent SNP T T C TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr6:76380283T>C c.1239T>C c.(1237-1239)atT>atC p.I413I ACC 6 76423518 76423518 + Nonsense_Mutation SNP C C T TCGA-OR-A5J8-01A-11D-A29I-10 TCGA-OR-A5J8-10A-01D-A29L-10 g.chr6:76423518C>T c.3106C>T c.(3106-3108)Cag>Tag p.Q1036* BLCA 6 76344528 76344528 + Splice_Site SNP G G T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 g.chr6:76344528G>T c.e5+1 BLCA 6 76372980 76372980 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr6:76372980C>T c.740C>T c.(739-741)tCt>tTt p.S247F BLCA 6 76376580 76376580 + Missense_Mutation SNP C C G TCGA-FD-A6TG-01A-11D-A32B-08 TCGA-FD-A6TG-10A-01D-A329-08 g.chr6:76376580C>G c.1147C>G c.(1147-1149)Cgt>Ggt p.R383G BLCA 6 76386922 76386922 + Missense_Mutation SNP G G A TCGA-5N-A9KI-01A-31D-A42E-08 TCGA-5N-A9KI-10A-01D-A42H-08 g.chr6:76386922G>A c.1798G>A c.(1798-1800)Gaa>Aaa p.E600K BLCA 6 76412689 76412689 + Missense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr6:76412689G>C c.2617G>C c.(2617-2619)Gaa>Caa p.E873Q BLCA 6 76412689 76412689 + Missense_Mutation SNP G G C TCGA-G2-AA3D-01A-11D-A391-08 TCGA-G2-AA3D-10A-01D-A394-08 g.chr6:76412689G>C c.2617G>C c.(2617-2619)Gaa>Caa p.E873Q BLCA 6 76412728 76412728 + Missense_Mutation SNP G G C TCGA-G2-AA3D-01A-11D-A391-08 TCGA-G2-AA3D-10A-01D-A394-08 g.chr6:76412728G>C c.2656G>C c.(2656-2658)Gat>Cat p.D886H BLCA 6 76412774 76412774 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 g.chr6:76412774C>G c.2702C>G c.(2701-2703)tCc>tGc p.S901C BLCA 6 76421112 76421112 + Silent SNP A A G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 g.chr6:76421112A>G c.2889A>G c.(2887-2889)ttA>ttG p.L963L BLCA 6 76425252 76425252 + Nonsense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr6:76425252C>G c.3281C>G c.(3280-3282)tCa>tGa p.S1094* BRCA 6 76380360 76380360 + Missense_Mutation SNP C C T TCGA-AC-A2B8-01A-11D-A17D-09 TCGA-AC-A2B8-10A-01D-A17D-09 g.chr6:76380360C>T c.1316C>T c.(1315-1317)tCc>tTc p.S439F BRCA 6 76380373 76380373 + Silent SNP C C A TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 g.chr6:76380373C>A c.1329C>A c.(1327-1329)gtC>gtA p.V443V BRCA 6 76385620 76385620 + Missense_Mutation SNP C C G TCGA-A2-A0YH-01A-11D-A10G-09 TCGA-A2-A0YH-10A-01D-A10G-09 g.chr6:76385620C>G c.1471C>G c.(1471-1473)Cta>Gta p.L491V BRCA 6 76385692 76385692 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr6:76385692C>G c.1543C>G c.(1543-1545)Caa>Gaa p.Q515E BRCA 6 76412369 76412369 + Nonsense_Mutation SNP G G A TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 g.chr6:76412369G>A c.2297G>A c.(2296-2298)tGg>tAg p.W766* BRCA 6 76425110 76425110 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr6:76425110C>T c.3139C>T c.(3139-3141)Ctc>Ttc p.L1047F BRCA 6 76425115 76425115 + Frame_Shift_Del DEL T T - TCGA-E2-A1LL-01A-11D-A142-09 TCGA-E2-A1LL-11A-21D-A142-09 g.chr6:76425115delT c.3144delT c.(3142-3144)agtfs p.S1048fs CESC 6 76380320 76380320 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 g.chr6:76380320C>G c.1276C>G c.(1276-1278)Caa>Gaa p.Q426E CESC 6 76425309 76425309 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr6:76425309G>A c.3338G>A c.(3337-3339)tGa>tAa p.*1113* COAD 6 76343307 76343307 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr6:76343307G>A c.218G>A c.(217-219)cGa>cAa p.R73Q COAD 6 76369066 76369066 + Silent SNP C C A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr6:76369066C>A c.639C>A c.(637-639)acC>acA p.T213T COAD 6 76373081 76373081 + Missense_Mutation SNP G G A TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr6:76373081G>A c.841G>A c.(841-843)Gaa>Aaa p.E281K COAD 6 76373082 76373082 + Missense_Mutation SNP A A G TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr6:76373082A>G c.842A>G c.(841-843)gAa>gGa p.E281G COAD 6 76373130 76373130 + Missense_Mutation SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr6:76373130C>T c.890C>T c.(889-891)aCt>aTt p.T297I COAD 6 76373130 76373130 + Missense_Mutation SNP C C T TCGA-CK-5912-01A-11D-1650-10 TCGA-CK-5912-10A-01D-1650-10 g.chr6:76373130C>T c.890C>T c.(889-891)aCt>aTt p.T297I COAD 6 76376615 76376615 + Silent SNP A A G TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr6:76376615A>G c.1182A>G c.(1180-1182)ttA>ttG p.L394L COAD 6 76380428 76380428 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr6:76380428C>T c.1384C>T c.(1384-1386)Cct>Tct p.P462S COAD 6 76386858 76386858 + Frame_Shift_Del DEL T T - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr6:76386858delT c.1734delT c.(1732-1734)aatfs p.N578fs COAD 6 76405523 76405523 + Nonsense_Mutation SNP C C A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr6:76405523C>A c.2079C>A c.(2077-2079)taC>taA p.Y693* COAD 6 76405579 76405579 + Missense_Mutation SNP C C A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr6:76405579C>A c.2135C>A c.(2134-2136)tCt>tAt p.S712Y COAD 6 76412420 76412420 + Missense_Mutation SNP C C A TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr6:76412420C>A c.2348C>A c.(2347-2349)cCt>cAt p.P783H COAD 6 76412420 76412420 + Missense_Mutation SNP C C A TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr6:76412420C>A c.2348C>A c.(2347-2349)cCt>cAt p.P783H COAD 6 76412421 76412421 + Silent SNP T T A TCGA-D5-6926-01A-11D-1924-10 TCGA-D5-6926-10A-01D-1924-10 g.chr6:76412421T>A c.2349T>A c.(2347-2349)ccT>ccA p.P783P COAD 6 76412421 76412421 + Silent SNP T T C TCGA-AZ-5403-01A-01D-1650-10 TCGA-AZ-5403-10A-01D-1650-10 g.chr6:76412421T>C c.2349T>C c.(2347-2349)ccT>ccC p.P783P COAD 6 76412421 76412421 + Silent SNP T T C TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr6:76412421T>C c.2349T>C c.(2347-2349)ccT>ccC p.P783P COAD 6 76412617 76412617 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr6:76412617C>A c.2545C>A c.(2545-2547)Cgt>Agt p.R849S COAD 6 76412634 76412634 + Missense_Mutation SNP A A G TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr6:76412634A>G c.2562A>G c.(2560-2562)atA>atG p.I854M COAD 6 76423416 76423416 + Frame_Shift_Del DEL A A - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr6:76423416delA c.3004delA c.(3004-3006)aaafs p.K1003fs COAD 6 76423416 76423416 + Frame_Shift_Del DEL A A - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr6:76423416delA c.3004delA c.(3004-3006)aaafs p.K1003fs COAD 6 76423416 76423416 + Frame_Shift_Del DEL A A - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr6:76423416delA c.3004delA c.(3004-3006)aaafs p.K1003fs COADREAD 6 76343307 76343307 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr6:76343307G>A c.218G>A c.(217-219)cGa>cAa p.R73Q COADREAD 6 76369066 76369066 + Silent SNP C C A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr6:76369066C>A c.639C>A c.(637-639)acC>acA p.T213T COADREAD 6 76373081 76373081 + Missense_Mutation SNP G G A TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr6:76373081G>A c.841G>A c.(841-843)Gaa>Aaa p.E281K COADREAD 6 76373082 76373082 + Missense_Mutation SNP A A G TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr6:76373082A>G c.842A>G c.(841-843)gAa>gGa p.E281G COADREAD 6 76373082 76373082 + Missense_Mutation SNP A A G TCGA-DY-A1DF-01A-11D-A152-10 TCGA-DY-A1DF-10A-01D-A152-10 g.chr6:76373082A>G c.842A>G c.(841-843)gAa>gGa p.E281G COADREAD 6 76373083 76373083 + Silent SNP A A G TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr6:76373083A>G c.843A>G c.(841-843)gaA>gaG p.E281E COADREAD 6 76373129 76373129 + Missense_Mutation SNP A A G TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chr6:76373129A>G c.889A>G c.(889-891)Act>Gct p.T297A COADREAD 6 76373130 76373130 + Missense_Mutation SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr6:76373130C>T c.890C>T c.(889-891)aCt>aTt p.T297I COADREAD 6 76373130 76373130 + Missense_Mutation SNP C C T TCGA-CK-5912-01A-11D-1650-10 TCGA-CK-5912-10A-01D-1650-10 g.chr6:76373130C>T c.890C>T c.(889-891)aCt>aTt p.T297I COADREAD 6 76376478 76376478 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:76376478G>T c.1045G>T c.(1045-1047)Gaa>Taa p.E349* COADREAD 6 76376615 76376615 + Silent SNP A A G TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr6:76376615A>G c.1182A>G c.(1180-1182)ttA>ttG p.L394L COADREAD 6 76380428 76380428 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr6:76380428C>T c.1384C>T c.(1384-1386)Cct>Tct p.P462S COADREAD 6 76386858 76386858 + Frame_Shift_Del DEL T T - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr6:76386858delT c.1734delT c.(1732-1734)aatfs p.N578fs COADREAD 6 76405523 76405523 + Nonsense_Mutation SNP C C A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr6:76405523C>A c.2079C>A c.(2077-2079)taC>taA p.Y693* COADREAD 6 76405579 76405579 + Missense_Mutation SNP C C A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr6:76405579C>A c.2135C>A c.(2134-2136)tCt>tAt p.S712Y COADREAD 6 76412420 76412420 + Missense_Mutation SNP C C A TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr6:76412420C>A c.2348C>A c.(2347-2349)cCt>cAt p.P783H COADREAD 6 76412420 76412420 + Missense_Mutation SNP C C A TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr6:76412420C>A c.2348C>A c.(2347-2349)cCt>cAt p.P783H COADREAD 6 76412421 76412421 + Silent SNP T T A TCGA-D5-6926-01A-11D-1924-10 TCGA-D5-6926-10A-01D-1924-10 g.chr6:76412421T>A c.2349T>A c.(2347-2349)ccT>ccA p.P783P COADREAD 6 76412421 76412421 + Silent SNP T T C TCGA-AZ-5403-01A-01D-1650-10 TCGA-AZ-5403-10A-01D-1650-10 g.chr6:76412421T>C c.2349T>C c.(2347-2349)ccT>ccC p.P783P COADREAD 6 76412421 76412421 + Silent SNP T T C TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr6:76412421T>C c.2349T>C c.(2347-2349)ccT>ccC p.P783P COADREAD 6 76412617 76412617 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr6:76412617C>A c.2545C>A c.(2545-2547)Cgt>Agt p.R849S COADREAD 6 76412634 76412634 + Missense_Mutation SNP A A G TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr6:76412634A>G c.2562A>G c.(2560-2562)atA>atG p.I854M COADREAD 6 76423416 76423416 + Frame_Shift_Del DEL A A - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr6:76423416delA c.3004delA c.(3004-3006)aaafs p.K1003fs COADREAD 6 76423416 76423416 + Frame_Shift_Del DEL A A - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr6:76423416delA c.3004delA c.(3004-3006)aaafs p.K1003fs COADREAD 6 76423416 76423416 + Frame_Shift_Del DEL A A - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr6:76423416delA c.3004delA c.(3004-3006)aaafs p.K1003fs DLBC 6 76373002 76373002 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr6:76373002G>A c.762G>A c.(760-762)acG>acA p.T254T ESCA 6 76376449 76376449 + Missense_Mutation SNP A A T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 g.chr6:76376449A>T c.1016A>T c.(1015-1017)gAt>gTt p.D339V ESCA 6 76385617 76385617 + Missense_Mutation SNP G G C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 g.chr6:76385617G>C c.1468G>C c.(1468-1470)Gat>Cat p.D490H ESCA 6 76386937 76386937 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 g.chr6:76386937G>A c.1813G>A c.(1813-1815)Gga>Aga p.G605R ESCA 6 76388386 76388386 + Missense_Mutation SNP A A G TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 g.chr6:76388386A>G c.1936A>G c.(1936-1938)Atc>Gtc p.I646V ESCA 6 76407199 76407199 + Missense_Mutation SNP G G C TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 g.chr6:76407199G>C c.2254G>C c.(2254-2256)Gag>Cag p.E752Q ESCA 6 76412676 76412676 + Silent SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 g.chr6:76412676G>T c.2604G>T c.(2602-2604)gcG>gcT p.A868A GBMLGG 6 76343307 76343307 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:76343307G>A c.218G>A c.(217-219)cGa>cAa p.R73Q GBMLGG 6 76343439 76343439 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:76343439T>C c.350T>C c.(349-351)tTg>tCg p.L117S GBMLGG 6 76385598 76385598 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:76385598G>T c.1449G>T c.(1447-1449)gaG>gaT p.E483D GBMLGG 6 76412532 76412533 + Frame_Shift_Ins INS - - A TCGA-RY-A843-01A-11D-A36O-08 TCGA-RY-A843-10A-01D-A367-08 g.chr6:76412532_76412533insA c.2460_2461insA c.(2461-2463)aagfs p.K821fs GBMLGG 6 76412580 76412580 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:76412580A>G c.2508A>G c.(2506-2508)gtA>gtG p.V836V GBMLGG 6 76412676 76412676 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:76412676G>A c.2604G>A c.(2602-2604)gcG>gcA p.A868A HNSC 6 76333615 76333615 + Splice_Site SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 g.chr6:76333615G>A c.e3-1 HNSC 6 76344433 76344433 + Nonsense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 g.chr6:76344433C>T c.364C>T c.(364-366)Caa>Taa p.Q122* HNSC 6 76344481 76344481 + Missense_Mutation SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 g.chr6:76344481C>T c.412C>T c.(412-414)Cat>Tat p.H138Y HNSC 6 76372993 76372993 + Silent SNP A A G TCGA-CV-A6JZ-01A-11D-A31L-08 TCGA-CV-A6JZ-10A-01D-A31J-08 g.chr6:76372993A>G c.753A>G c.(751-753)ttA>ttG p.L251L HNSC 6 76376506 76376506 + Missense_Mutation SNP C C T TCGA-CQ-5326-01A-01D-1870-08 TCGA-CQ-5326-10A-01D-1870-08 g.chr6:76376506C>T c.1073C>T c.(1072-1074)tCa>tTa p.S358L HNSC 6 76376512 76376512 + Missense_Mutation SNP G G C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 g.chr6:76376512G>C c.1079G>C c.(1078-1080)tGt>tCt p.C360S HNSC 6 76376581 76376581 + Missense_Mutation SNP G G A TCGA-CV-A6JY-01A-11D-A31L-08 TCGA-CV-A6JY-10A-01D-A31J-08 g.chr6:76376581G>A c.1148G>A c.(1147-1149)cGt>cAt p.R383H HNSC 6 76380320 76380320 + Missense_Mutation SNP C C G TCGA-F7-8298-01A-11D-2394-08 TCGA-F7-8298-10A-01D-2394-08 g.chr6:76380320C>G c.1276C>G c.(1276-1278)Caa>Gaa p.Q426E HNSC 6 76407199 76407199 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr6:76407199G>C c.2254G>C c.(2254-2256)Gag>Cag p.E752Q HNSC 6 76412714 76412714 + Frame_Shift_Del DEL C C - TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 g.chr6:76412714delC c.2642delC c.(2641-2643)tccfs p.S881fs KICH 6 76386858 76386858 + Frame_Shift_Del DEL T T - TCGA-KL-8344-01A-11D-2310-10 TCGA-KL-8344-11A-01D-2310-10 g.chr6:76386858delT c.1734delT c.(1732-1734)aatfs p.N578fs KIPAN 6 76369015 76369015 + Missense_Mutation SNP A A T TCGA-B0-5081-01A-01D-1462-08 TCGA-B0-5081-11A-01D-1462-08 g.chr6:76369015A>T c.588A>T c.(586-588)caA>caT p.Q196H KIPAN 6 76386858 76386858 + Frame_Shift_Del DEL T T - TCGA-KL-8344-01A-11D-2310-10 TCGA-KL-8344-11A-01D-2310-10 g.chr6:76386858delT c.1734delT c.(1732-1734)aatfs p.N578fs KIPAN 6 76388338 76388338 + Missense_Mutation SNP G G C TCGA-BP-4351-01A-01D-1366-10 TCGA-BP-4351-11A-01D-1366-10 g.chr6:76388338G>C c.1888G>C c.(1888-1890)Gaa>Caa p.E630Q KIPAN 6 76388567 76388567 + Missense_Mutation SNP T T G TCGA-5P-A9KC-01A-11D-A42J-10 TCGA-5P-A9KC-10A-01D-A42M-10 g.chr6:76388567T>G c.1999T>G c.(1999-2001)Tct>Gct p.S667A KIPAN 6 76412443 76412443 + Missense_Mutation SNP G G A TCGA-A4-7585-01A-11D-2136-08 TCGA-A4-7585-11A-01D-2136-08 g.chr6:76412443G>A c.2371G>A c.(2371-2373)Gct>Act p.A791T KIPAN 6 76421100 76421100 + Silent SNP A A T TCGA-B0-5102-01A-01D-1421-08 TCGA-B0-5102-11A-01D-1421-08 g.chr6:76421100A>T c.2877A>T c.(2875-2877)ggA>ggT p.G959G KIRC 6 76369015 76369015 + Missense_Mutation SNP A A T TCGA-B0-5081-01A-01D-1462-08 TCGA-B0-5081-11A-01D-1462-08 g.chr6:76369015A>T c.588A>T c.(586-588)caA>caT p.Q196H KIRC 6 76388338 76388338 + Missense_Mutation SNP G G C TCGA-BP-4351-01A-01D-1366-10 TCGA-BP-4351-11A-01D-1366-10 g.chr6:76388338G>C c.1888G>C c.(1888-1890)Gaa>Caa p.E630Q KIRC 6 76421100 76421100 + Silent SNP A A T TCGA-B0-5102-01A-01D-1421-08 TCGA-B0-5102-11A-01D-1421-08 g.chr6:76421100A>T c.2877A>T c.(2875-2877)ggA>ggT p.G959G KIRP 6 76388567 76388567 + Missense_Mutation SNP T T G TCGA-5P-A9KC-01A-11D-A42J-10 TCGA-5P-A9KC-10A-01D-A42M-10 g.chr6:76388567T>G c.1999T>G c.(1999-2001)Tct>Gct p.S667A KIRP 6 76412443 76412443 + Missense_Mutation SNP G G A TCGA-A4-7585-01A-11D-2136-08 TCGA-A4-7585-11A-01D-2136-08 g.chr6:76412443G>A c.2371G>A c.(2371-2373)Gct>Act p.A791T LGG 6 76343307 76343307 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:76343307G>A c.218G>A c.(217-219)cGa>cAa p.R73Q LGG 6 76343439 76343439 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:76343439T>C c.350T>C c.(349-351)tTg>tCg p.L117S LGG 6 76385598 76385598 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:76385598G>T c.1449G>T c.(1447-1449)gaG>gaT p.E483D LGG 6 76412532 76412533 + Frame_Shift_Ins INS - - A TCGA-RY-A843-01A-11D-A36O-08 TCGA-RY-A843-10A-01D-A367-08 g.chr6:76412532_76412533insA c.2460_2461insA c.(2461-2463)aagfs p.K821fs LGG 6 76412580 76412580 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:76412580A>G c.2508A>G c.(2506-2508)gtA>gtG p.V836V LGG 6 76412676 76412676 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:76412676G>A c.2604G>A c.(2602-2604)gcG>gcA p.A868A LIHC 6 76312282 76312282 + Frame_Shift_Del DEL T T - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr6:76312282delT c.42delT c.(40-42)actfs p.T14fs LIHC 6 76331286 76331286 + Frame_Shift_Del DEL A A - TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr6:76331286delA c.91delA c.(91-93)aaafs p.K31fs LIHC 6 76344460 76344460 + Missense_Mutation SNP G G T TCGA-DD-AAC9-01A-11D-A40R-10 TCGA-DD-AAC9-10A-01D-A40U-10 g.chr6:76344460G>T c.391G>T c.(391-393)Gta>Tta p.V131L LIHC 6 76376479 76376480 + Frame_Shift_Ins INS - - TT TCGA-DD-A3A7-01A-11D-A22F-10 TCGA-DD-A3A7-11A-11D-A22F-10 g.chr6:76376479_76376480insTT c.1046_1047insTT c.(1045-1050)gaaagcfs p.ES349fs LIHC 6 76376480 76376481 + Missense_Mutation DNP AA AA TC TCGA-DD-A3A7-01A-11D-A22F-10 TCGA-DD-A3A7-11A-11D-A22F-10 g.chr6:76376480_76376481AA>TC c.1047_1048AA>TC c.(1045-1050)gaAAgc>gaTCgc p.349_350ES>DR LIHC 6 76380428 76380428 + Missense_Mutation SNP C C T TCGA-G3-A3CG-01A-11D-A20W-10 TCGA-G3-A3CG-10A-01D-A20W-10 g.chr6:76380428C>T c.1384C>T c.(1384-1386)Cct>Tct p.P462S LIHC 6 76386824 76386861 + Frame_Shift_Del DEL TTAATGAAATTGGTATAAAGAATAACATCTCCAATTTT TTAATGAAATTGGTATAAAGAATAACATCTCCAATTTT - TCGA-DD-AACD-01A-11D-A40R-10 TCGA-DD-AACD-10A-01D-A40U-10 g.chr6:76386824_76386861delTTAATGAAATTGGTATAAAGAATAACATCTCCAATTTT c.1700_1737delTTAATGAAATTGGTATAAAGAATAACATCTCCAATTTT c.(1699-1737)attaatgaaattggtataaagaataacatctccaattttfs p.INEIGIKNNISNF567fs LIHC 6 76386867 76386867 + Frame_Shift_Del DEL G G - TCGA-DD-AACD-01A-11D-A40R-10 TCGA-DD-AACD-10A-01D-A40U-10 g.chr6:76386867delG c.1743delG c.(1741-1743)gcgfs p.A581fs LIHC 6 76386875 76386875 + Missense_Mutation SNP C C G TCGA-BC-A112-01A-11D-A12Z-10 TCGA-BC-A112-11A-11D-A12Z-10 g.chr6:76386875C>G c.1751C>G c.(1750-1752)cCc>cGc p.P584R LIHC 6 76388329 76388329 + Missense_Mutation SNP A A G TCGA-CC-A3MA-01A-11D-A20W-10 TCGA-CC-A3MA-10A-01D-A20W-10 g.chr6:76388329A>G c.1879A>G c.(1879-1881)Agc>Ggc p.S627G LIHC 6 76405605 76405605 + Missense_Mutation SNP A A G TCGA-FV-A2QR-01A-11D-A20W-10 TCGA-FV-A2QR-11A-11D-A20W-10 g.chr6:76405605A>G c.2161A>G c.(2161-2163)Aga>Gga p.R721G LIHC 6 76419283 76419283 + Frame_Shift_Del DEL A A - TCGA-DD-AAEB-01A-11D-A40R-10 TCGA-DD-AAEB-10A-01D-A40U-10 g.chr6:76419283delA c.2757delA c.(2755-2757)tcafs p.S919fs LIHC 6 76423528 76423528 + Missense_Mutation SNP A A G TCGA-5C-A9VG-01A-11D-A36X-10 TCGA-5C-A9VG-10A-01D-A370-10 g.chr6:76423528A>G c.3116A>G c.(3115-3117)gAg>gGg p.E1039G LUAD 6 76373226 76373226 + Missense_Mutation SNP A A T TCGA-55-7995-01A-11D-2184-08 TCGA-55-7995-10A-01D-2184-08 g.chr6:76373226A>T c.986A>T c.(985-987)aAt>aTt p.N329I LUAD 6 76376442 76376442 + Missense_Mutation SNP G G A TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr6:76376442G>A c.1009G>A c.(1009-1011)Gat>Aat p.D337N LUAD 6 76376476 76376476 + Missense_Mutation SNP G G T TCGA-NJ-A4YF-01A-12D-A25L-08 TCGA-NJ-A4YF-10A-01D-A25L-08 g.chr6:76376476G>T c.1043G>T c.(1042-1044)aGa>aTa p.R348I LUAD 6 76385162 76385162 + Missense_Mutation SNP T T G TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 g.chr6:76385162T>G c.1404T>G c.(1402-1404)gaT>gaG p.D468E LUAD 6 76385184 76385184 + Splice_Site SNP G G T TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr6:76385184G>T c.1426G>T c.(1426-1428)Gaa>Taa p.E476* LUAD 6 76405596 76405596 + Missense_Mutation SNP C C G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 g.chr6:76405596C>G c.2152C>G c.(2152-2154)Ctt>Gtt p.L718V LUAD 6 76423247 76423247 + Missense_Mutation SNP G G T TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr6:76423247G>T c.2928G>T c.(2926-2928)atG>atT p.M976I LUAD 6 76425176 76425176 + Missense_Mutation SNP G G A TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr6:76425176G>A c.3205G>A c.(3205-3207)Gaa>Aaa p.E1069K LUSC 6 76333641 76333641 + Missense_Mutation SNP G G A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 g.chr6:76333641G>A c.172G>A c.(172-174)Gaa>Aaa p.E58K LUSC 6 76388391 76388391 + Silent SNP C C T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 g.chr6:76388391C>T c.1941C>T c.(1939-1941)ttC>ttT p.F647F OV 6 76373130 76373130 + Missense_Mutation SNP C C G TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 g.chr6:76373130C>G c.890C>G c.(889-891)aCt>aGt p.T297S PAAD 6 76412670 76412670 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:76412670T>G c.2598T>G c.(2596-2598)caT>caG p.H866Q PAAD 6 76423282 76423282 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:76423282T>C c.2963T>C c.(2962-2964)gTc>gCc p.V988A PAAD 6 76425185 76425185 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr6:76425185C>A c.3214C>A c.(3214-3216)Cga>Aga p.R1072R PAAD 6 76425185 76425185 + Silent SNP C C A TCGA-YB-A89D-01A-12D-A36O-08 TCGA-YB-A89D-10A-01D-A367-08 g.chr6:76425185C>A c.3214C>A c.(3214-3216)Cga>Aga p.R1072R PRAD 6 76344440 76344440 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr6:76344440C>T c.371C>T c.(370-372)aCg>aTg p.T124M PRAD 6 76373050 76373050 + Silent SNP A A G TCGA-QU-A6IO-01A-11D-A31L-08 TCGA-QU-A6IO-10A-01D-A31J-08 g.chr6:76373050A>G c.810A>G c.(808-810)ttA>ttG p.L270L PRAD 6 76388358 76388358 + Missense_Mutation SNP A A T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr6:76388358A>T c.1908A>T c.(1906-1908)gaA>gaT p.E636D PRAD 6 76412444 76412444 + Missense_Mutation SNP C C A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr6:76412444C>A c.2372C>A c.(2371-2373)gCt>gAt p.A791D READ 6 76373082 76373082 + Missense_Mutation SNP A A G TCGA-DY-A1DF-01A-11D-A152-10 TCGA-DY-A1DF-10A-01D-A152-10 g.chr6:76373082A>G c.842A>G c.(841-843)gAa>gGa p.E281G READ 6 76373083 76373083 + Silent SNP A A G TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr6:76373083A>G c.843A>G c.(841-843)gaA>gaG p.E281E READ 6 76373129 76373129 + Missense_Mutation SNP A A G TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chr6:76373129A>G c.889A>G c.(889-891)Act>Gct p.T297A READ 6 76376478 76376478 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:76376478G>T c.1045G>T c.(1045-1047)Gaa>Taa p.E349* SKCM 6 76350409 76350409 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr6:76350409C>T c.468C>T c.(466-468)gaC>gaT p.D156D SKCM 6 76369081 76369081 + Silent SNP T T A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr6:76369081T>A c.654T>A c.(652-654)ccT>ccA p.P218P SKCM 6 76376441 76376443 + In_Frame_Del DEL TGA TGA - TCGA-DA-A1I0-06A-11D-A20D-08 TCGA-DA-A1I0-10B-01D-A20D-08 g.chr6:76376441_76376443delTGA c.1008_1010delTGA c.(1006-1011)agtgat>agt p.D341del SKCM 6 76386794 76386794 + Missense_Mutation SNP C C T TCGA-ER-A19W-06A-41D-A23B-08 TCGA-ER-A19W-10A-01D-A23B-08 g.chr6:76386794C>T c.1670C>T c.(1669-1671)cCt>cTt p.P557L SKCM 6 76386875 76386875 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr6:76386875C>T c.1751C>T c.(1750-1752)cCc>cTc p.P584L SKCM 6 76388549 76388549 + Missense_Mutation SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr6:76388549C>T c.1981C>T c.(1981-1983)Cca>Tca p.P661S SKCM 6 76388550 76388550 + Missense_Mutation SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr6:76388550C>T c.1982C>T c.(1981-1983)cCa>cTa p.P661L SKCM 6 76407209 76407209 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr6:76407209T>C c.2264T>C c.(2263-2265)tTt>tCt p.F755S SKCM 6 76412391 76412391 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr6:76412391C>T c.2319C>T c.(2317-2319)ttC>ttT p.F773F SKCM 6 76412655 76412655 + Silent SNP G G A TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr6:76412655G>A c.2583G>A c.(2581-2583)gtG>gtA p.V861V

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 6 76376465 76376465 single base substitution A G downstream_gene_variant ALL-US 6 76376465 76376465 single base substitution A G synonymous_variant R234R 702A>G ALL-US 6 76376465 76376465 single base substitution A G synonymous_variant R337R 1011A>G ALL-US 6 76376465 76376465 single base substitution A G synonymous_variant R344R 1032A>G ALL-US 6 76376465 76376465 single base substitution A G upstream_gene_variant BLCA-CN 6 76386920 76386920 single base substitution A G exon_variant BLCA-CN 6 76386920 76386920 single base substitution A G missense_variant Y195C 584A>G BLCA-CN 6 76386920 76386920 single base substitution A G missense_variant Y489C 1466A>G BLCA-CN 6 76386920 76386920 single base substitution A G missense_variant Y592C 1775A>G BLCA-CN 6 76386920 76386920 single base substitution A G missense_variant Y599C 1796A>G BLCA-CN 6 76386920 76386920 single base substitution A G upstream_gene_variant BLCA-US 6 76412689 76412689 single base substitution G C downstream_gene_variant BLCA-US 6 76412689 76412689 single base substitution G C intron_variant BLCA-US 6 76412689 76412689 single base substitution G C missense_variant E866Q 2596G>C BLCA-US 6 76412689 76412689 single base substitution G C missense_variant E873Q 2617G>C BLCA-US 6 76425252 76425252 single base substitution C G 3_prime_UTR_variant BLCA-US 6 76425252 76425252 single base substitution C G stop_gained S1087* 3260C>G BLCA-US 6 76425252 76425252 single base substitution C G stop_gained S1094* 3281C>G BOCA-UK 6 76405565 76405565 single base substitution T C exon_variant BOCA-UK 6 76405565 76405565 single base substitution T C synonymous_variant I303I 909T>C BOCA-UK 6 76405565 76405565 single base substitution T C synonymous_variant I700I 2100T>C BOCA-UK 6 76405565 76405565 single base substitution T C synonymous_variant I707I 2121T>C BOCA-UK 6 76419276 76419276 single base substitution A G 3_prime_UTR_variant BOCA-UK 6 76419276 76419276 single base substitution A G missense_variant D910G 2729A>G BOCA-UK 6 76419276 76419276 single base substitution A G missense_variant D917G 2750A>G BRCA-EU 6 76307248 76307248 single base substitution C G upstream_gene_variant BRCA-EU 6 76311731 76311731 single base substitution C T 5_prime_UTR_variant BRCA-EU 6 76311731 76311731 single base substitution C T upstream_gene_variant BRCA-EU 6 76312809 76312809 single base substitution G A intron_variant BRCA-EU 6 76314099 76314099 single base substitution G A intron_variant BRCA-EU 6 76314180 76314180 single base substitution C T intron_variant BRCA-EU 6 76314692 76314692 single base substitution G A intron_variant BRCA-EU 6 76315936 76315936 single base substitution G C intron_variant BRCA-EU 6 76317915 76317915 single base substitution T G intron_variant BRCA-EU 6 76318726 76318726 single base substitution A C intron_variant BRCA-EU 6 76319793 76319793 single base substitution C T intron_variant BRCA-EU 6 76319884 76319884 single base substitution G T intron_variant BRCA-EU 6 76320061 76320061 single base substitution C G intron_variant BRCA-EU 6 76320072 76320072 single base substitution A G intron_variant BRCA-EU 6 76320689 76320689 single base substitution C T intron_variant BRCA-EU 6 76322576 76322576 single base substitution T A intron_variant BRCA-EU 6 76324051 76324051 single base substitution A G intron_variant BRCA-EU 6 76324075 76324075 single base substitution A G intron_variant BRCA-EU 6 76324127 76324127 single base substitution G A intron_variant BRCA-EU 6 76324248 76324248 single base substitution C G intron_variant BRCA-EU 6 76324390 76324390 single base substitution G A intron_variant BRCA-EU 6 76327389 76327389 single base substitution A G intron_variant BRCA-EU 6 76327389 76327389 single base substitution A G upstream_gene_variant BRCA-EU 6 76328146 76328146 deletion of <=200bp A - intron_variant BRCA-EU 6 76328146 76328146 deletion of <=200bp A - upstream_gene_variant BRCA-EU 6 76328146 76328146 insertion of <=200bp - A intron_variant BRCA-EU 6 76328146 76328146 insertion of <=200bp - A upstream_gene_variant BRCA-EU 6 76329131 76329131 single base substitution T G intron_variant BRCA-EU 6 76329131 76329131 single base substitution T G upstream_gene_variant BRCA-EU 6 76330531 76330531 single base substitution C T intron_variant BRCA-EU 6 76331679 76331679 single base substitution T A intron_variant BRCA-EU 6 76332528 76332528 single base substitution G A exon_variant BRCA-EU 6 76332528 76332528 single base substitution G A intron_variant BRCA-EU 6 76334047 76334047 single base substitution T C intron_variant BRCA-EU 6 76336183 76336183 insertion of <=200bp - T intron_variant BRCA-EU 6 76336628 76336628 deletion of <=200bp T - intron_variant BRCA-EU 6 76338644 76338644 single base substitution C T intron_variant BRCA-EU 6 76338644 76338644 single base substitution C T upstream_gene_variant BRCA-EU 6 76339852 76339852 single base substitution C G intron_variant BRCA-EU 6 76339852 76339852 single base substitution C G upstream_gene_variant BRCA-EU 6 76341003 76341003 single base substitution G T intron_variant BRCA-EU 6 76341003 76341003 single base substitution G T upstream_gene_variant BRCA-EU 6 76342171 76342171 single base substitution A G intron_variant BRCA-EU 6 76342171 76342171 single base substitution A G upstream_gene_variant BRCA-EU 6 76345737 76345737 single base substitution T C downstream_gene_variant BRCA-EU 6 76345737 76345737 single base substitution T C intron_variant BRCA-EU 6 76346774 76346774 single base substitution A T downstream_gene_variant BRCA-EU 6 76346774 76346774 single base substitution A T intron_variant BRCA-EU 6 76347410 76347410 single base substitution T G downstream_gene_variant BRCA-EU 6 76347410 76347410 single base substitution T G intron_variant BRCA-EU 6 76348696 76348696 single base substitution G T downstream_gene_variant BRCA-EU 6 76348696 76348696 single base substitution G T intron_variant BRCA-EU 6 76349758 76349758 single base substitution G A downstream_gene_variant BRCA-EU 6 76349758 76349758 single base substitution G A intron_variant BRCA-EU 6 76351486 76351486 single base substitution G C intron_variant BRCA-EU 6 76351486 76351486 single base substitution G C upstream_gene_variant BRCA-EU 6 76351520 76351520 single base substitution C T intron_variant BRCA-EU 6 76351520 76351520 single base substitution C T upstream_gene_variant BRCA-EU 6 76351743 76351743 single base substitution G C intron_variant BRCA-EU 6 76351743 76351743 single base substitution G C upstream_gene_variant BRCA-EU 6 76352297 76352297 single base substitution G A intron_variant BRCA-EU 6 76352297 76352297 single base substitution G A upstream_gene_variant BRCA-EU 6 76352388 76352388 single base substitution G C intron_variant BRCA-EU 6 76352388 76352388 single base substitution G C upstream_gene_variant BRCA-EU 6 76352919 76352919 single base substitution G C intron_variant BRCA-EU 6 76352919 76352919 single base substitution G C upstream_gene_variant BRCA-EU 6 76353900 76353901 deletion of <=200bp TG - intron_variant BRCA-EU 6 76353900 76353901 deletion of <=200bp TG - upstream_gene_variant BRCA-EU 6 76354908 76354908 single base substitution C G intron_variant BRCA-EU 6 76354908 76354908 single base substitution C G upstream_gene_variant BRCA-EU 6 76357163 76357163 single base substitution G A exon_variant BRCA-EU 6 76357163 76357163 single base substitution G A intron_variant BRCA-EU 6 76357582 76357582 single base substitution G C intron_variant BRCA-EU 6 76357935 76357935 single base substitution T C intron_variant BRCA-EU 6 76358662 76358662 single base substitution G T intron_variant BRCA-EU 6 76358889 76358889 single base substitution G A intron_variant BRCA-EU 6 76360089 76360089 single base substitution G A intron_variant BRCA-EU 6 76360326 76360326 single base substitution G A intron_variant BRCA-EU 6 76360636 76360636 single base substitution G T intron_variant BRCA-EU 6 76360693 76360693 deletion of <=200bp T - intron_variant BRCA-EU 6 76360920 76360920 deletion of <=200bp T - intron_variant BRCA-EU 6 76362664 76362664 single base substitution C A intron_variant BRCA-EU 6 76365832 76365832 single base substitution G A intron_variant BRCA-EU 6 76365870 76365870 single base substitution G A intron_variant BRCA-EU 6 76366030 76366030 single base substitution T G intron_variant BRCA-EU 6 76366456 76366456 single base substitution C G intron_variant BRCA-EU 6 76366505 76366505 single base substitution C G intron_variant BRCA-EU 6 76367238 76367238 single base substitution G A intron_variant BRCA-EU 6 76368411 76368411 single base substitution C G intron_variant BRCA-EU 6 76369099 76369099 insertion of <=200bp - A exon_variant BRCA-EU 6 76369099 76369099 insertion of <=200bp - A frameshift_variant S114S? BRCA-EU 6 76369099 76369099 insertion of <=200bp - A frameshift_variant S217S? BRCA-EU 6 76369099 76369099 insertion of <=200bp - A frameshift_variant S224S? BRCA-EU 6 76371230 76371230 single base substitution G A intron_variant BRCA-EU 6 76372109 76372109 single base substitution C T intron_variant BRCA-EU 6 76372109 76372109 single base substitution C T upstream_gene_variant BRCA-EU 6 76372309 76372309 deletion of <=200bp T - intron_variant BRCA-EU 6 76372309 76372309 deletion of <=200bp T - upstream_gene_variant BRCA-EU 6 76373558 76373558 single base substitution T G downstream_gene_variant BRCA-EU 6 76373558 76373558 single base substitution T G intron_variant BRCA-EU 6 76373558 76373558 single base substitution T G upstream_gene_variant BRCA-EU 6 76376363 76376363 single base substitution G A downstream_gene_variant BRCA-EU 6 76376363 76376363 single base substitution G A intron_variant BRCA-EU 6 76376363 76376363 single base substitution G A upstream_gene_variant BRCA-EU 6 76376679 76376679 single base substitution A G downstream_gene_variant BRCA-EU 6 76376679 76376679 single base substitution A G intron_variant BRCA-EU 6 76376716 76376716 deletion of <=200bp T - downstream_gene_variant BRCA-EU 6 76376716 76376716 deletion of <=200bp T - intron_variant BRCA-EU 6 76376859 76376859 single base substitution A G downstream_gene_variant BRCA-EU 6 76376859 76376859 single base substitution A G intron_variant BRCA-EU 6 76376870 76376870 single base substitution C G downstream_gene_variant BRCA-EU 6 76376870 76376870 single base substitution C G intron_variant BRCA-EU 6 76377052 76377052 single base substitution A G downstream_gene_variant BRCA-EU 6 76377052 76377052 single base substitution A G intron_variant BRCA-EU 6 76378285 76378285 single base substitution A T intron_variant BRCA-EU 6 76378912 76378912 deletion of <=200bp A - intron_variant BRCA-EU 6 76379064 76379064 single base substitution T C intron_variant BRCA-EU 6 76379534 76379534 single base substitution G A intron_variant BRCA-EU 6 76379795 76379795 single base substitution G A intron_variant BRCA-EU 6 76380311 76380311 single base substitution G A exon_variant BRCA-EU 6 76380311 76380311 single base substitution G A missense_variant V19M 55G>A BRCA-EU 6 76380311 76380311 single base substitution G A missense_variant V313M 937G>A BRCA-EU 6 76380311 76380311 single base substitution G A missense_variant V416M 1246G>A BRCA-EU 6 76380311 76380311 single base substitution G A missense_variant V423M 1267G>A BRCA-EU 6 76380320 76380320 single base substitution C G exon_variant BRCA-EU 6 76380320 76380320 single base substitution C G missense_variant Q22E 64C>G BRCA-EU 6 76380320 76380320 single base substitution C G missense_variant Q316E 946C>G BRCA-EU 6 76380320 76380320 single base substitution C G missense_variant Q419E 1255C>G BRCA-EU 6 76380320 76380320 single base substitution C G missense_variant Q426E 1276C>G BRCA-EU 6 76381148 76381148 single base substitution G C intron_variant BRCA-EU 6 76382399 76382399 single base substitution G C intron_variant BRCA-EU 6 76382399 76382399 single base substitution G C upstream_gene_variant BRCA-EU 6 76382485 76382485 single base substitution G C intron_variant BRCA-EU 6 76382485 76382485 single base substitution G C upstream_gene_variant BRCA-EU 6 76382756 76382756 single base substitution G C intron_variant BRCA-EU 6 76382756 76382756 single base substitution G C upstream_gene_variant BRCA-EU 6 76383089 76383089 single base substitution G C intron_variant BRCA-EU 6 76383089 76383089 single base substitution G C upstream_gene_variant BRCA-EU 6 76383322 76383322 single base substitution G T intron_variant BRCA-EU 6 76383322 76383322 single base substitution G T upstream_gene_variant BRCA-EU 6 76385388 76385388 single base substitution G C intron_variant BRCA-EU 6 76385388 76385388 single base substitution G C upstream_gene_variant BRCA-EU 6 76385647 76385647 single base substitution C G exon_variant BRCA-EU 6 76385647 76385647 single base substitution C G missense_variant R390G 1168C>G BRCA-EU 6 76385647 76385647 single base substitution C G missense_variant R493G 1477C>G BRCA-EU 6 76385647 76385647 single base substitution C G missense_variant R500G 1498C>G BRCA-EU 6 76385647 76385647 single base substitution C G missense_variant R96G 286C>G BRCA-EU 6 76385647 76385647 single base substitution C G upstream_gene_variant BRCA-EU 6 76386491 76386491 single base substitution G C exon_variant BRCA-EU 6 76386491 76386491 single base substitution G C intron_variant BRCA-EU 6 76386491 76386491 single base substitution G C upstream_gene_variant BRCA-EU 6 76387060 76387060 single base substitution G A exon_variant BRCA-EU 6 76387060 76387060 single base substitution G A intron_variant BRCA-EU 6 76387060 76387060 single base substitution G A upstream_gene_variant BRCA-EU 6 76387176 76387176 single base substitution G C exon_variant BRCA-EU 6 76387176 76387176 single base substitution G C intron_variant BRCA-EU 6 76387176 76387176 single base substitution G C upstream_gene_variant BRCA-EU 6 76387986 76387986 single base substitution G T exon_variant BRCA-EU 6 76387986 76387986 single base substitution G T intron_variant BRCA-EU 6 76387986 76387986 single base substitution G T upstream_gene_variant BRCA-EU 6 76391488 76391488 single base substitution T C downstream_gene_variant BRCA-EU 6 76391488 76391488 single base substitution T C intron_variant BRCA-EU 6 76392082 76392082 single base substitution C T downstream_gene_variant BRCA-EU 6 76392082 76392082 single base substitution C T intron_variant BRCA-EU 6 76392570 76392570 single base substitution C T downstream_gene_variant BRCA-EU 6 76392570 76392570 single base substitution C T intron_variant BRCA-EU 6 76393501 76393501 single base substitution A T downstream_gene_variant BRCA-EU 6 76393501 76393501 single base substitution A T intron_variant BRCA-EU 6 76394202 76394202 single base substitution T G downstream_gene_variant BRCA-EU 6 76394202 76394202 single base substitution T G intron_variant BRCA-EU 6 76395352 76395352 single base substitution C T intron_variant BRCA-EU 6 76395444 76395444 single base substitution G A intron_variant BRCA-EU 6 76396107 76396107 single base substitution T C intron_variant BRCA-EU 6 76396710 76396710 single base substitution C G intron_variant BRCA-EU 6 76397962 76397962 single base substitution T C intron_variant BRCA-EU 6 76398344 76398344 single base substitution C T intron_variant BRCA-EU 6 76398777 76398777 single base substitution C T intron_variant BRCA-EU 6 76399139 76399139 deletion of <=200bp A - intron_variant BRCA-EU 6 76399139 76399139 insertion of <=200bp - A intron_variant BRCA-EU 6 76399625 76399625 single base substitution G T intron_variant BRCA-EU 6 76399660 76399660 single base substitution G A intron_variant BRCA-EU 6 76399770 76399770 single base substitution G C intron_variant BRCA-EU 6 76400127 76400127 single base substitution G C intron_variant BRCA-EU 6 76400862 76400862 single base substitution T A intron_variant BRCA-EU 6 76401275 76401275 insertion of <=200bp - T intron_variant BRCA-EU 6 76401511 76401511 single base substitution C T intron_variant BRCA-EU 6 76401595 76401595 single base substitution G A intron_variant BRCA-EU 6 76402064 76402064 single base substitution A G intron_variant BRCA-EU 6 76404237 76404237 single base substitution C T intron_variant BRCA-EU 6 76405739 76405739 single base substitution T C intron_variant BRCA-EU 6 76406444 76406444 single base substitution C G intron_variant BRCA-EU 6 76407026 76407026 deletion of <=200bp T - intron_variant BRCA-EU 6 76407049 76407049 single base substitution T A intron_variant BRCA-EU 6 76407416 76407416 single base substitution T C exon_variant BRCA-EU 6 76407416 76407416 single base substitution T C intron_variant BRCA-EU 6 76407761 76407761 single base substitution G A downstream_gene_variant BRCA-EU 6 76407761 76407761 single base substitution G A intron_variant BRCA-EU 6 76408556 76408556 single base substitution G C downstream_gene_variant BRCA-EU 6 76408556 76408556 single base substitution G C intron_variant BRCA-EU 6 76409379 76409379 deletion of <=200bp T - downstream_gene_variant BRCA-EU 6 76409379 76409379 deletion of <=200bp T - intron_variant BRCA-EU 6 76409789 76409789 single base substitution C G downstream_gene_variant BRCA-EU 6 76409789 76409789 single base substitution C G intron_variant BRCA-EU 6 76409878 76409878 single base substitution C G downstream_gene_variant BRCA-EU 6 76409878 76409878 single base substitution C G intron_variant BRCA-EU 6 76411221 76411221 insertion of <=200bp - T downstream_gene_variant BRCA-EU 6 76411221 76411221 insertion of <=200bp - T intron_variant BRCA-EU 6 76412834 76412834 single base substitution C G intron_variant BRCA-EU 6 76412901 76412901 single base substitution G C intron_variant BRCA-EU 6 76413246 76413246 single base substitution A G intron_variant BRCA-EU 6 76413518 76413518 deletion of <=200bp A - intron_variant BRCA-EU 6 76413713 76413713 single base substitution C T intron_variant BRCA-EU 6 76414533 76414533 single base substitution A G intron_variant BRCA-EU 6 76415282 76415282 single base substitution T A intron_variant BRCA-EU 6 76417678 76417678 single base substitution G A intron_variant BRCA-EU 6 76418636 76418636 single base substitution A G intron_variant BRCA-EU 6 76418796 76418796 single base substitution C T intron_variant BRCA-EU 6 76419522 76419522 deletion of <=200bp A - intron_variant BRCA-EU 6 76419608 76419608 single base substitution G A intron_variant BRCA-EU 6 76419907 76419907 single base substitution T C intron_variant BRCA-EU 6 76422218 76422218 single base substitution C T intron_variant BRCA-EU 6 76422378 76422378 single base substitution G C intron_variant BRCA-EU 6 76422657 76422657 insertion of <=200bp - A intron_variant BRCA-EU 6 76423080 76423080 single base substitution G A intron_variant BRCA-EU 6 76424940 76424940 single base substitution C G intron_variant BRCA-EU 6 76427026 76427026 single base substitution G T 3_prime_UTR_variant BRCA-EU 6 76427026 76427026 single base substitution G T downstream_gene_variant BRCA-EU 6 76427622 76427622 single base substitution T C 3_prime_UTR_variant BRCA-EU 6 76427622 76427622 single base substitution T C downstream_gene_variant BRCA-EU 6 76428864 76428864 single base substitution G A downstream_gene_variant BRCA-EU 6 76430159 76430159 deletion of <=200bp G - downstream_gene_variant BRCA-EU 6 76431030 76431030 single base substitution G A downstream_gene_variant BRCA-EU 6 76432044 76432044 single base substitution G A downstream_gene_variant BRCA-EU 6 76432767 76432767 single base substitution G C downstream_gene_variant BRCA-FR 6 76308907 76308907 single base substitution C A upstream_gene_variant BRCA-FR 6 76309774 76309774 single base substitution G A upstream_gene_variant BRCA-FR 6 76309803 76309803 single base substitution C G upstream_gene_variant BRCA-FR 6 76312809 76312809 single base substitution G A intron_variant BRCA-FR 6 76322755 76322755 single base substitution A G intron_variant BRCA-FR 6 76324051 76324051 single base substitution A G intron_variant BRCA-FR 6 76324075 76324075 single base substitution A G intron_variant BRCA-FR 6 76345520 76345520 single base substitution A G downstream_gene_variant BRCA-FR 6 76345520 76345520 single base substitution A G intron_variant BRCA-FR 6 76345737 76345737 single base substitution T C downstream_gene_variant BRCA-FR 6 76345737 76345737 single base substitution T C intron_variant BRCA-FR 6 76347410 76347410 single base substitution T G downstream_gene_variant BRCA-FR 6 76347410 76347410 single base substitution T G intron_variant BRCA-FR 6 76351486 76351486 single base substitution G C intron_variant BRCA-FR 6 76351486 76351486 single base substitution G C upstream_gene_variant BRCA-FR 6 76352388 76352388 single base substitution G C intron_variant BRCA-FR 6 76352388 76352388 single base substitution G C upstream_gene_variant BRCA-FR 6 76353001 76353001 single base substitution G C intron_variant BRCA-FR 6 76353001 76353001 single base substitution G C upstream_gene_variant BRCA-FR 6 76365832 76365832 single base substitution G A intron_variant BRCA-FR 6 76379064 76379064 single base substitution T C intron_variant BRCA-FR 6 76379534 76379534 single base substitution G A intron_variant BRCA-FR 6 76380311 76380311 single base substitution G A exon_variant BRCA-FR 6 76380311 76380311 single base substitution G A missense_variant V19M 55G>A BRCA-FR 6 76380311 76380311 single base substitution G A missense_variant V313M 937G>A BRCA-FR 6 76380311 76380311 single base substitution G A missense_variant V416M 1246G>A BRCA-FR 6 76380311 76380311 single base substitution G A missense_variant V423M 1267G>A BRCA-FR 6 76381148 76381148 single base substitution G C intron_variant BRCA-FR 6 76381236 76381236 single base substitution G C intron_variant BRCA-FR 6 76387986 76387986 single base substitution G T exon_variant BRCA-FR 6 76387986 76387986 single base substitution G T intron_variant BRCA-FR 6 76387986 76387986 single base substitution G T upstream_gene_variant BRCA-FR 6 76396699 76396699 single base substitution C A intron_variant BRCA-FR 6 76400127 76400127 single base substitution G C intron_variant BRCA-FR 6 76419907 76419907 single base substitution T C intron_variant BRCA-FR 6 76430053 76430053 single base substitution G T downstream_gene_variant BRCA-FR 6 76432767 76432767 single base substitution G C downstream_gene_variant BRCA-UK 6 76360266 76360266 single base substitution C G intron_variant BRCA-UK 6 76360898 76360898 single base substitution C G intron_variant BRCA-UK 6 76362049 76362049 single base substitution C G intron_variant BRCA-UK 6 76363229 76363229 single base substitution C T intron_variant BRCA-UK 6 76363344 76363344 single base substitution C T intron_variant BRCA-UK 6 76377428 76377428 single base substitution A C downstream_gene_variant BRCA-UK 6 76377428 76377428 single base substitution A C intron_variant BRCA-UK 6 76397962 76397962 single base substitution T C intron_variant BRCA-UK 6 76404237 76404237 single base substitution C T intron_variant BRCA-UK 6 76418636 76418636 single base substitution A G intron_variant BRCA-UK 6 76421915 76421915 single base substitution A T intron_variant BRCA-UK 6 76428864 76428864 single base substitution G A downstream_gene_variant BRCA-US 6 76380360 76380360 single base substitution C T exon_variant BRCA-US 6 76380360 76380360 single base substitution C T missense_variant S329F 986C>T BRCA-US 6 76380360 76380360 single base substitution C T missense_variant S35F 104C>T BRCA-US 6 76380360 76380360 single base substitution C T missense_variant S432F 1295C>T BRCA-US 6 76380360 76380360 single base substitution C T missense_variant S439F 1316C>T BRCA-US 6 76380373 76380373 single base substitution C A exon_variant BRCA-US 6 76380373 76380373 single base substitution C A synonymous_variant V333V 999C>A BRCA-US 6 76380373 76380373 single base substitution C A synonymous_variant V39V 117C>A BRCA-US 6 76380373 76380373 single base substitution C A synonymous_variant V436V 1308C>A BRCA-US 6 76380373 76380373 single base substitution C A synonymous_variant V443V 1329C>A BRCA-US 6 76385620 76385620 single base substitution C G exon_variant BRCA-US 6 76385620 76385620 single base substitution C G missense_variant L381V 1141C>G BRCA-US 6 76385620 76385620 single base substitution C G missense_variant L484V 1450C>G BRCA-US 6 76385620 76385620 single base substitution C G missense_variant L491V 1471C>G BRCA-US 6 76385620 76385620 single base substitution C G missense_variant L87V 259C>G BRCA-US 6 76385620 76385620 single base substitution C G upstream_gene_variant BRCA-US 6 76385692 76385692 single base substitution C G exon_variant BRCA-US 6 76385692 76385692 single base substitution C G missense_variant Q111E 331C>G BRCA-US 6 76385692 76385692 single base substitution C G missense_variant Q405E 1213C>G BRCA-US 6 76385692 76385692 single base substitution C G missense_variant Q508E 1522C>G BRCA-US 6 76385692 76385692 single base substitution C G missense_variant Q515E 1543C>G BRCA-US 6 76385692 76385692 single base substitution C G upstream_gene_variant BRCA-US 6 76412369 76412369 single base substitution G A downstream_gene_variant BRCA-US 6 76412369 76412369 single base substitution G A intron_variant BRCA-US 6 76412369 76412369 single base substitution G A stop_gained W759* 2276G>A BRCA-US 6 76412369 76412369 single base substitution G A stop_gained W766* 2297G>A BRCA-US 6 76425110 76425110 single base substitution C T 3_prime_UTR_variant BRCA-US 6 76425110 76425110 single base substitution C T missense_variant L1040F 3118C>T BRCA-US 6 76425110 76425110 single base substitution C T missense_variant L1047F 3139C>T BRCA-US 6 76425115 76425115 deletion of <=200bp T - 3_prime_UTR_variant BRCA-US 6 76425115 76425115 deletion of <=200bp T - frameshift_variant S1041 BRCA-US 6 76425115 76425115 deletion of <=200bp T - frameshift_variant S1048 BTCA-JP 6 76331347 76331347 single base substitution G T splice_region_variant BTCA-JP 6 76331357 76331357 single base substitution T C intron_variant BTCA-JP 6 76344440 76344440 single base substitution C T 3_prime_UTR_variant BTCA-JP 6 76344440 76344440 single base substitution C T exon_variant BTCA-JP 6 76344440 76344440 single base substitution C T missense_variant T124M 371C>T BTCA-JP 6 76344440 76344440 single base substitution C T missense_variant T14M 41C>T BTCA-JP 6 76344440 76344440 single base substitution C T missense_variant T15M 44C>T BTCA-JP 6 76385538 76385538 single base substitution T G intron_variant BTCA-JP 6 76385538 76385538 single base substitution T G upstream_gene_variant BTCA-JP 6 76412871 76412871 deletion of <=200bp A - intron_variant CESC-US 6 76380320 76380320 single base substitution C G exon_variant CESC-US 6 76380320 76380320 single base substitution C G missense_variant Q22E 64C>G CESC-US 6 76380320 76380320 single base substitution C G missense_variant Q316E 946C>G CESC-US 6 76380320 76380320 single base substitution C G missense_variant Q419E 1255C>G CESC-US 6 76380320 76380320 single base substitution C G missense_variant Q426E 1276C>G CESC-US 6 76425309 76425309 single base substitution G A 3_prime_UTR_variant CESC-US 6 76425309 76425309 single base substitution G A stop_retained_variant *1106* 3317G>A CESC-US 6 76425309 76425309 single base substitution G A stop_retained_variant *1113* 3338G>A CLLE-ES 6 76315371 76315371 single base substitution G A intron_variant CLLE-ES 6 76321897 76321897 single base substitution A G intron_variant CLLE-ES 6 76351192 76351192 single base substitution C G intron_variant CLLE-ES 6 76362690 76362692 deletion of <=200bp TTG - intron_variant CLLE-ES 6 76425969 76425969 single base substitution C A 3_prime_UTR_variant CLLE-ES 6 76425969 76425969 single base substitution C A downstream_gene_variant COAD-US 6 76343307 76343307 single base substitution G A 3_prime_UTR_variant COAD-US 6 76343307 76343307 single base substitution G A 5_prime_UTR_variant COAD-US 6 76343307 76343307 single base substitution G A missense_variant R73Q 218G>A COAD-US 6 76343307 76343307 single base substitution G A upstream_gene_variant COAD-US 6 76369066 76369066 single base substitution C A exon_variant COAD-US 6 76369066 76369066 single base substitution C A synonymous_variant T103T 309C>A COAD-US 6 76369066 76369066 single base substitution C A synonymous_variant T206T 618C>A COAD-US 6 76369066 76369066 single base substitution C A synonymous_variant T213T 639C>A COAD-US 6 76376615 76376615 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant COAD-US 6 76376615 76376615 single base substitution A G downstream_gene_variant COAD-US 6 76376615 76376615 single base substitution A G exon_variant COAD-US 6 76376615 76376615 single base substitution A G synonymous_variant L284L 852A>G COAD-US 6 76376615 76376615 single base substitution A G synonymous_variant L387L 1161A>G COAD-US 6 76376615 76376615 single base substitution A G synonymous_variant L394L 1182A>G COAD-US 6 76380428 76380428 single base substitution C T exon_variant COAD-US 6 76380428 76380428 single base substitution C T missense_variant P352S 1054C>T COAD-US 6 76380428 76380428 single base substitution C T missense_variant P455S 1363C>T COAD-US 6 76380428 76380428 single base substitution C T missense_variant P462S 1384C>T COAD-US 6 76380428 76380428 single base substitution C T missense_variant P58S 172C>T COAD-US 6 76412617 76412617 single base substitution C A downstream_gene_variant COAD-US 6 76412617 76412617 single base substitution C A intron_variant COAD-US 6 76412617 76412617 single base substitution C A missense_variant R842S 2524C>A COAD-US 6 76412617 76412617 single base substitution C A missense_variant R849S 2545C>A COAD-US 6 76412634 76412634 single base substitution A G downstream_gene_variant COAD-US 6 76412634 76412634 single base substitution A G intron_variant COAD-US 6 76412634 76412634 single base substitution A G missense_variant I847M 2541A>G COAD-US 6 76412634 76412634 single base substitution A G missense_variant I854M 2562A>G COAD-US 6 76423416 76423416 deletion of <=200bp A - 3_prime_UTR_variant COAD-US 6 76423416 76423416 deletion of <=200bp A - frameshift_variant K1002 COAD-US 6 76423416 76423416 deletion of <=200bp A - frameshift_variant K995 COCA-CN 6 76317594 76317594 single base substitution G T intron_variant COCA-CN 6 76326581 76326581 single base substitution T A intron_variant COCA-CN 6 76326581 76326581 single base substitution T A upstream_gene_variant COCA-CN 6 76326939 76326939 single base substitution T C intron_variant COCA-CN 6 76326939 76326939 single base substitution T C upstream_gene_variant COCA-CN 6 76331041 76331041 single base substitution A G intron_variant COCA-CN 6 76336557 76336557 single base substitution A G intron_variant COCA-CN 6 76376551 76376551 single base substitution C T downstream_gene_variant COCA-CN 6 76376551 76376551 single base substitution C T missense_variant A263V 788C>T COCA-CN 6 76376551 76376551 single base substitution C T missense_variant A366V 1097C>T COCA-CN 6 76376551 76376551 single base substitution C T missense_variant A373V 1118C>T COCA-CN 6 76376551 76376551 single base substitution C T upstream_gene_variant COCA-CN 6 76380656 76380656 single base substitution C T intron_variant COCA-CN 6 76383884 76383884 single base substitution T A intron_variant COCA-CN 6 76383884 76383884 single base substitution T A upstream_gene_variant COCA-CN 6 76383885 76383885 single base substitution T A intron_variant COCA-CN 6 76383885 76383885 single base substitution T A upstream_gene_variant COCA-CN 6 76386866 76386866 single base substitution C T exon_variant COCA-CN 6 76386866 76386866 single base substitution C T missense_variant A177V 530C>T COCA-CN 6 76386866 76386866 single base substitution C T missense_variant A471V 1412C>T COCA-CN 6 76386866 76386866 single base substitution C T missense_variant A574V 1721C>T COCA-CN 6 76386866 76386866 single base substitution C T missense_variant A581V 1742C>T COCA-CN 6 76386866 76386866 single base substitution C T upstream_gene_variant COCA-CN 6 76403114 76403114 single base substitution A G intron_variant COCA-CN 6 76412612 76412612 single base substitution A G downstream_gene_variant COCA-CN 6 76412612 76412612 single base substitution A G intron_variant COCA-CN 6 76412612 76412612 single base substitution A G missense_variant D840G 2519A>G COCA-CN 6 76412612 76412612 single base substitution A G missense_variant D847G 2540A>G COCA-CN 6 76415673 76415673 single base substitution G A intron_variant COCA-CN 6 76423092 76423092 single base substitution T C intron_variant COCA-CN 6 76423323 76423323 single base substitution C T intron_variant COCA-CN 6 76423363 76423363 single base substitution T C intron_variant EOPC-DE 6 76369741 76369741 single base substitution A G intron_variant EOPC-DE 6 76383104 76383104 single base substitution A G intron_variant EOPC-DE 6 76383104 76383104 single base substitution A G upstream_gene_variant EOPC-DE 6 76413949 76413949 single base substitution G A intron_variant ESAD-UK 6 76306648 76306648 single base substitution C T upstream_gene_variant ESAD-UK 6 76313742 76313742 single base substitution A T intron_variant ESAD-UK 6 76314723 76314723 single base substitution A T intron_variant ESAD-UK 6 76314932 76314932 single base substitution C T intron_variant ESAD-UK 6 76315021 76315021 single base substitution A G intron_variant ESAD-UK 6 76315510 76315510 single base substitution T A intron_variant ESAD-UK 6 76315811 76315811 single base substitution G A intron_variant ESAD-UK 6 76319202 76319202 single base substitution A C intron_variant ESAD-UK 6 76321051 76321051 single base substitution C T intron_variant ESAD-UK 6 76322807 76322807 single base substitution G A intron_variant ESAD-UK 6 76323245 76323245 single base substitution C A intron_variant ESAD-UK 6 76326299 76326299 single base substitution C T intron_variant ESAD-UK 6 76326299 76326299 single base substitution C T upstream_gene_variant ESAD-UK 6 76329645 76329645 insertion of <=200bp - A intron_variant ESAD-UK 6 76329645 76329645 insertion of <=200bp - A upstream_gene_variant ESAD-UK 6 76331457 76331457 single base substitution A C intron_variant ESAD-UK 6 76332596 76332596 single base substitution A G intron_variant ESAD-UK 6 76334412 76334412 single base substitution C T intron_variant ESAD-UK 6 76336228 76336228 single base substitution T C intron_variant ESAD-UK 6 76336607 76336607 deletion of <=200bp T - intron_variant ESAD-UK 6 76343192 76343192 single base substitution C T intron_variant ESAD-UK 6 76343192 76343192 single base substitution C T upstream_gene_variant ESAD-UK 6 76344088 76344088 single base substitution G C intron_variant ESAD-UK 6 76346775 76346775 single base substitution T A downstream_gene_variant ESAD-UK 6 76346775 76346775 single base substitution T A intron_variant ESAD-UK 6 76347949 76347949 single base substitution T A downstream_gene_variant ESAD-UK 6 76347949 76347949 single base substitution T A intron_variant ESAD-UK 6 76348469 76348469 single base substitution G A downstream_gene_variant ESAD-UK 6 76348469 76348469 single base substitution G A intron_variant ESAD-UK 6 76348812 76348812 single base substitution G A downstream_gene_variant ESAD-UK 6 76348812 76348812 single base substitution G A intron_variant ESAD-UK 6 76349216 76349216 single base substitution A G downstream_gene_variant ESAD-UK 6 76349216 76349216 single base substitution A G intron_variant ESAD-UK 6 76349229 76349229 single base substitution T C downstream_gene_variant ESAD-UK 6 76349229 76349229 single base substitution T C intron_variant ESAD-UK 6 76354979 76354979 single base substitution G A intron_variant ESAD-UK 6 76354979 76354979 single base substitution G A upstream_gene_variant ESAD-UK 6 76356447 76356447 single base substitution G A exon_variant ESAD-UK 6 76356447 76356447 single base substitution G A intron_variant ESAD-UK 6 76356447 76356447 single base substitution G A upstream_gene_variant ESAD-UK 6 76356944 76356944 single base substitution C A intron_variant ESAD-UK 6 76356944 76356944 single base substitution C A upstream_gene_variant ESAD-UK 6 76358023 76358023 single base substitution A C intron_variant ESAD-UK 6 76358687 76358687 single base substitution T C intron_variant ESAD-UK 6 76359327 76359327 single base substitution G A intron_variant ESAD-UK 6 76359523 76359523 single base substitution G A intron_variant ESAD-UK 6 76360588 76360592 deletion of <=200bp TTTTC - intron_variant ESAD-UK 6 76361197 76361197 single base substitution G T intron_variant ESAD-UK 6 76362160 76362160 single base substitution T G intron_variant ESAD-UK 6 76364686 76364686 single base substitution A G intron_variant ESAD-UK 6 76366079 76366079 single base substitution G T intron_variant ESAD-UK 6 76366522 76366522 single base substitution A G intron_variant ESAD-UK 6 76368881 76368881 single base substitution A G intron_variant ESAD-UK 6 76369195 76369195 single base substitution A C intron_variant ESAD-UK 6 76371838 76371838 single base substitution T G intron_variant ESAD-UK 6 76371838 76371838 single base substitution T G upstream_gene_variant ESAD-UK 6 76373524 76373525 deletion of <=200bp GT - downstream_gene_variant ESAD-UK 6 76373524 76373525 deletion of <=200bp GT - intron_variant ESAD-UK 6 76373524 76373525 deletion of <=200bp GT - upstream_gene_variant ESAD-UK 6 76375289 76375289 single base substitution C T downstream_gene_variant ESAD-UK 6 76375289 76375289 single base substitution C T intron_variant ESAD-UK 6 76375289 76375289 single base substitution C T upstream_gene_variant ESAD-UK 6 76376716 76376716 deletion of <=200bp T - downstream_gene_variant ESAD-UK 6 76376716 76376716 deletion of <=200bp T - intron_variant ESAD-UK 6 76377278 76377278 deletion of <=200bp A - downstream_gene_variant ESAD-UK 6 76377278 76377278 deletion of <=200bp A - intron_variant ESAD-UK 6 76381838 76381838 single base substitution A G intron_variant ESAD-UK 6 76381838 76381838 single base substitution A G upstream_gene_variant ESAD-UK 6 76382105 76382105 single base substitution A G intron_variant ESAD-UK 6 76382105 76382105 single base substitution A G upstream_gene_variant ESAD-UK 6 76383360 76383360 single base substitution A T intron_variant ESAD-UK 6 76383360 76383360 single base substitution A T upstream_gene_variant ESAD-UK 6 76384466 76384466 deletion of <=200bp T - intron_variant ESAD-UK 6 76384466 76384466 deletion of <=200bp T - upstream_gene_variant ESAD-UK 6 76388584 76388584 single base substitution C G exon_variant ESAD-UK 6 76388584 76388584 single base substitution C G missense_variant D268E 804C>G ESAD-UK 6 76388584 76388584 single base substitution C G missense_variant D562E 1686C>G ESAD-UK 6 76388584 76388584 single base substitution C G missense_variant D665E 1995C>G ESAD-UK 6 76388584 76388584 single base substitution C G missense_variant D672E 2016C>G ESAD-UK 6 76389807 76389807 single base substitution T C downstream_gene_variant ESAD-UK 6 76389807 76389807 single base substitution T C intron_variant ESAD-UK 6 76391564 76391564 single base substitution G C downstream_gene_variant ESAD-UK 6 76391564 76391564 single base substitution G C intron_variant ESAD-UK 6 76392023 76392023 single base substitution A C downstream_gene_variant ESAD-UK 6 76392023 76392023 single base substitution A C intron_variant ESAD-UK 6 76394795 76394795 single base substitution T G intron_variant ESAD-UK 6 76400810 76400810 single base substitution T G intron_variant ESAD-UK 6 76401879 76401879 single base substitution A T intron_variant ESAD-UK 6 76403869 76403869 single base substitution G A intron_variant ESAD-UK 6 76405109 76405109 single base substitution A T intron_variant ESAD-UK 6 76405204 76405204 single base substitution G A intron_variant ESAD-UK 6 76406089 76406089 single base substitution C T intron_variant ESAD-UK 6 76407234 76407234 single base substitution G A exon_variant ESAD-UK 6 76407234 76407234 single base substitution G A splice_donor_variant ESAD-UK 6 76408125 76408125 single base substitution T C downstream_gene_variant ESAD-UK 6 76408125 76408125 single base substitution T C intron_variant ESAD-UK 6 76410552 76410552 single base substitution A G downstream_gene_variant ESAD-UK 6 76410552 76410552 single base substitution A G intron_variant ESAD-UK 6 76415282 76415282 single base substitution T A intron_variant ESAD-UK 6 76418145 76418145 single base substitution A G intron_variant ESAD-UK 6 76418296 76418296 single base substitution A T intron_variant ESAD-UK 6 76422963 76422963 single base substitution A C intron_variant ESAD-UK 6 76423215 76423215 deletion of <=200bp T - intron_variant ESAD-UK 6 76423349 76423349 deletion of <=200bp T - intron_variant ESAD-UK 6 76423514 76423514 single base substitution A T 3_prime_UTR_variant ESAD-UK 6 76423514 76423514 single base substitution A T synonymous_variant V1027V 3081A>T ESAD-UK 6 76423514 76423514 single base substitution A T synonymous_variant V1034V 3102A>T ESAD-UK 6 76424855 76424855 single base substitution C T intron_variant ESCA-CN 6 76350374 76350374 insertion of <=200bp - T intron_variant ESCA-CN 6 76372937 76372937 single base substitution G T missense_variant D123Y 367G>T ESCA-CN 6 76372937 76372937 single base substitution G T missense_variant D226Y 676G>T ESCA-CN 6 76372937 76372937 single base substitution G T missense_variant D233Y 697G>T ESCA-CN 6 76372937 76372937 single base substitution G T splice_region_variant ESCA-CN 6 76372937 76372937 single base substitution G T upstream_gene_variant ESCA-CN 6 76407187 76407187 single base substitution G A exon_variant ESCA-CN 6 76407187 76407187 single base substitution G A missense_variant V344I 1030G>A ESCA-CN 6 76407187 76407187 single base substitution G A missense_variant V741I 2221G>A ESCA-CN 6 76407187 76407187 single base substitution G A missense_variant V748I 2242G>A ESCA-CN 6 76421099 76421099 single base substitution G A 3_prime_UTR_variant ESCA-CN 6 76421099 76421099 single base substitution G A missense_variant G952E 2855G>A ESCA-CN 6 76421099 76421099 single base substitution G A missense_variant G959E 2876G>A ESCA-CN 6 76425163 76425163 single base substitution G A 3_prime_UTR_variant ESCA-CN 6 76425163 76425163 single base substitution G A missense_variant M1057I 3171G>A ESCA-CN 6 76425163 76425163 single base substitution G A missense_variant M1064I 3192G>A KIRC-US 6 76369015 76369015 single base substitution A T exon_variant KIRC-US 6 76369015 76369015 single base substitution A T missense_variant Q189H 567A>T KIRC-US 6 76369015 76369015 single base substitution A T missense_variant Q196H 588A>T KIRC-US 6 76369015 76369015 single base substitution A T missense_variant Q86H 258A>T KIRC-US 6 76388338 76388338 single base substitution G C exon_variant KIRC-US 6 76388338 76388338 single base substitution G C missense_variant E226Q 676G>C KIRC-US 6 76388338 76388338 single base substitution G C missense_variant E520Q 1558G>C KIRC-US 6 76388338 76388338 single base substitution G C missense_variant E623Q 1867G>C KIRC-US 6 76388338 76388338 single base substitution G C missense_variant E630Q 1888G>C KIRC-US 6 76388338 76388338 single base substitution G C upstream_gene_variant KIRC-US 6 76421100 76421100 single base substitution A T 3_prime_UTR_variant KIRC-US 6 76421100 76421100 single base substitution A T synonymous_variant G952G 2856A>T KIRC-US 6 76421100 76421100 single base substitution A T synonymous_variant G959G 2877A>T KIRP-US 6 76412443 76412443 single base substitution G A downstream_gene_variant KIRP-US 6 76412443 76412443 single base substitution G A intron_variant KIRP-US 6 76412443 76412443 single base substitution G A missense_variant A784T 2350G>A KIRP-US 6 76412443 76412443 single base substitution G A missense_variant A791T 2371G>A LAML-KR 6 76333763 76333763 single base substitution A C intron_variant LAML-KR 6 76344355 76344355 single base substitution G T intron_variant LAML-KR 6 76383056 76383056 single base substitution G T intron_variant LAML-KR 6 76383056 76383056 single base substitution G T upstream_gene_variant LAML-KR 6 76383061 76383061 single base substitution C A intron_variant LAML-KR 6 76383061 76383061 single base substitution C A upstream_gene_variant LAML-KR 6 76385511 76385511 single base substitution A G intron_variant LAML-KR 6 76385511 76385511 single base substitution A G upstream_gene_variant LICA-CN 6 76368975 76368975 single base substitution T C splice_region_variant LICA-CN 6 76369120 76369120 single base substitution A T exon_variant LICA-CN 6 76369120 76369120 single base substitution A T missense_variant L121F 363A>T LICA-CN 6 76369120 76369120 single base substitution A T missense_variant L224F 672A>T LICA-CN 6 76369120 76369120 single base substitution A T missense_variant L231F 693A>T LICA-CN 6 76423227 76423227 single base substitution A T splice_acceptor_variant LICA-FR 6 76340852 76340854 deletion of <=200bp TTC - intron_variant LICA-FR 6 76340852 76340854 deletion of <=200bp TTC - upstream_gene_variant LICA-FR 6 76343616 76343616 single base substitution T C intron_variant LICA-FR 6 76372942 76372942 single base substitution G A exon_variant LICA-FR 6 76372942 76372942 single base substitution G A synonymous_variant L124L 372G>A LICA-FR 6 76372942 76372942 single base substitution G A synonymous_variant L227L 681G>A LICA-FR 6 76372942 76372942 single base substitution G A synonymous_variant L234L 702G>A LICA-FR 6 76372942 76372942 single base substitution G A upstream_gene_variant LICA-FR 6 76375770 76375835 deletion of <=200bp ATATATAAAACGTATATATGATATATATAAAACGTATATATGATATATATAAAATGTATATATGAT - downstream_gene_variant LICA-FR 6 76375770 76375835 deletion of <=200bp ATATATAAAACGTATATATGATATATATAAAACGTATATATGATATATATAAAATGTATATATGAT - intron_variant LICA-FR 6 76375770 76375835 deletion of <=200bp ATATATAAAACGTATATATGATATATATAAAACGTATATATGATATATATAAAATGTATATATGAT - upstream_gene_variant LICA-FR 6 76400723 76400723 insertion of <=200bp - TT intron_variant LICA-FR 6 76408593 76408593 single base substitution G A downstream_gene_variant LICA-FR 6 76408593 76408593 single base substitution G A intron_variant LICA-FR 6 76414034 76414034 single base substitution G A intron_variant LIHC-US 6 76376473 76376473 single base substitution G T downstream_gene_variant LIHC-US 6 76376473 76376473 single base substitution G T missense_variant R237I 710G>T LIHC-US 6 76376473 76376473 single base substitution G T missense_variant R340I 1019G>T LIHC-US 6 76376473 76376473 single base substitution G T missense_variant R347I 1040G>T LIHC-US 6 76376473 76376473 single base substitution G T upstream_gene_variant LIHC-US 6 76376479 76376479 insertion of <=200bp - TT downstream_gene_variant LIHC-US 6 76376479 76376479 insertion of <=200bp - TT frameshift_variant E239V? LIHC-US 6 76376479 76376479 insertion of <=200bp - TT frameshift_variant E342V? LIHC-US 6 76376479 76376479 insertion of <=200bp - TT frameshift_variant E349V? LIHC-US 6 76376479 76376479 insertion of <=200bp - TT upstream_gene_variant LIHC-US 6 76386875 76386875 single base substitution C G exon_variant LIHC-US 6 76386875 76386875 single base substitution C G missense_variant P180R 539C>G LIHC-US 6 76386875 76386875 single base substitution C G missense_variant P474R 1421C>G LIHC-US 6 76386875 76386875 single base substitution C G missense_variant P577R 1730C>G LIHC-US 6 76386875 76386875 single base substitution C G missense_variant P584R 1751C>G LIHC-US 6 76386875 76386875 single base substitution C G upstream_gene_variant LINC-JP 6 76315486 76315486 single base substitution G T intron_variant LINC-JP 6 76328746 76328746 single base substitution T C intron_variant LINC-JP 6 76328746 76328746 single base substitution T C upstream_gene_variant LINC-JP 6 76328748 76328748 single base substitution C T intron_variant LINC-JP 6 76328748 76328748 single base substitution C T upstream_gene_variant LINC-JP 6 76329809 76329809 single base substitution A G intron_variant LINC-JP 6 76329809 76329809 single base substitution A G upstream_gene_variant LINC-JP 6 76347973 76347973 single base substitution A T downstream_gene_variant LINC-JP 6 76347973 76347973 single base substitution A T intron_variant LINC-JP 6 76354939 76354939 single base substitution A G intron_variant LINC-JP 6 76354939 76354939 single base substitution A G upstream_gene_variant LINC-JP 6 76356449 76356449 single base substitution G A exon_variant LINC-JP 6 76356449 76356449 single base substitution G A intron_variant LINC-JP 6 76356449 76356449 single base substitution G A upstream_gene_variant LINC-JP 6 76357621 76357621 single base substitution A G intron_variant LINC-JP 6 76358509 76358509 single base substitution A G intron_variant LINC-JP 6 76359537 76359537 single base substitution C A intron_variant LINC-JP 6 76362253 76362253 single base substitution T A intron_variant LINC-JP 6 76368167 76368167 single base substitution A G intron_variant LINC-JP 6 76369070 76369070 single base substitution C T exon_variant LINC-JP 6 76369070 76369070 single base substitution C T stop_gained Q105* 313C>T LINC-JP 6 76369070 76369070 single base substitution C T stop_gained Q208* 622C>T LINC-JP 6 76369070 76369070 single base substitution C T stop_gained Q215* 643C>T LINC-JP 6 76386850 76386850 single base substitution A T exon_variant LINC-JP 6 76386850 76386850 single base substitution A T missense_variant I172F 514A>T LINC-JP 6 76386850 76386850 single base substitution A T missense_variant I466F 1396A>T LINC-JP 6 76386850 76386850 single base substitution A T missense_variant I569F 1705A>T LINC-JP 6 76386850 76386850 single base substitution A T missense_variant I576F 1726A>T LINC-JP 6 76386850 76386850 single base substitution A T upstream_gene_variant LINC-JP 6 76390797 76390797 single base substitution A G downstream_gene_variant LINC-JP 6 76390797 76390797 single base substitution A G intron_variant LINC-JP 6 76399535 76399535 single base substitution A C intron_variant LINC-JP 6 76409241 76409241 single base substitution T A downstream_gene_variant LINC-JP 6 76409241 76409241 single base substitution T A intron_variant LINC-JP 6 76409456 76409456 single base substitution G A downstream_gene_variant LINC-JP 6 76409456 76409456 single base substitution G A intron_variant LINC-JP 6 76412348 76412348 single base substitution T G downstream_gene_variant LINC-JP 6 76412348 76412348 single base substitution T G intron_variant LINC-JP 6 76419270 76419270 single base substitution A G exon_variant LINC-JP 6 76419270 76419270 single base substitution A G missense_variant Y908C 2723A>G LINC-JP 6 76419270 76419270 single base substitution A G missense_variant Y915C 2744A>G LINC-JP 6 76419270 76419270 single base substitution A G synonymous_variant L368L 1104A>G LINC-JP 6 76420997 76420997 single base substitution A G intron_variant LINC-JP 6 76421468 76421468 single base substitution A G intron_variant LINC-JP 6 76428680 76428680 single base substitution T C downstream_gene_variant LINC-JP 6 76429475 76429475 single base substitution A C downstream_gene_variant LIRI-JP 6 76308060 76308060 single base substitution C T upstream_gene_variant LIRI-JP 6 76309171 76309171 single base substitution A G upstream_gene_variant LIRI-JP 6 76314738 76314738 single base substitution G T intron_variant LIRI-JP 6 76316264 76316264 single base substitution A T intron_variant LIRI-JP 6 76316966 76316966 single base substitution G T intron_variant LIRI-JP 6 76317144 76317147 deletion of <=200bp CTTT - intron_variant LIRI-JP 6 76317393 76317393 single base substitution T A intron_variant LIRI-JP 6 76318053 76318053 single base substitution C T intron_variant LIRI-JP 6 76318757 76318757 single base substitution A T intron_variant LIRI-JP 6 76322784 76322784 single base substitution T G intron_variant LIRI-JP 6 76323256 76323256 single base substitution T C intron_variant LIRI-JP 6 76323885 76323885 single base substitution A G intron_variant LIRI-JP 6 76324041 76324041 single base substitution G T intron_variant LIRI-JP 6 76325042 76325042 single base substitution C T intron_variant LIRI-JP 6 76326297 76326297 single base substitution T C intron_variant LIRI-JP 6 76326297 76326297 single base substitution T C upstream_gene_variant LIRI-JP 6 76328463 76328463 single base substitution A G intron_variant LIRI-JP 6 76328463 76328463 single base substitution A G upstream_gene_variant LIRI-JP 6 76329705 76329705 single base substitution A G intron_variant LIRI-JP 6 76329705 76329705 single base substitution A G upstream_gene_variant LIRI-JP 6 76330261 76330261 single base substitution C A intron_variant LIRI-JP 6 76330261 76330261 single base substitution C A upstream_gene_variant LIRI-JP 6 76330332 76330332 single base substitution A G intron_variant LIRI-JP 6 76330332 76330332 single base substitution A G upstream_gene_variant LIRI-JP 6 76331025 76331025 single base substitution T C intron_variant LIRI-JP 6 76331072 76331072 single base substitution G T intron_variant LIRI-JP 6 76331541 76331541 single base substitution T C intron_variant LIRI-JP 6 76332525 76332525 single base substitution A G exon_variant LIRI-JP 6 76332525 76332525 single base substitution A G intron_variant LIRI-JP 6 76334090 76334090 single base substitution C G intron_variant LIRI-JP 6 76335862 76335862 single base substitution T G intron_variant LIRI-JP 6 76337575 76337575 single base substitution G T intron_variant LIRI-JP 6 76338876 76338876 single base substitution A G intron_variant LIRI-JP 6 76338876 76338876 single base substitution A G upstream_gene_variant LIRI-JP 6 76340000 76340000 single base substitution G T intron_variant LIRI-JP 6 76340000 76340000 single base substitution G T upstream_gene_variant LIRI-JP 6 76340540 76340540 single base substitution C T intron_variant LIRI-JP 6 76340540 76340540 single base substitution C T upstream_gene_variant LIRI-JP 6 76341215 76341215 single base substitution C G intron_variant LIRI-JP 6 76341215 76341215 single base substitution C G upstream_gene_variant LIRI-JP 6 76341879 76341879 single base substitution G C intron_variant LIRI-JP 6 76341879 76341879 single base substitution G C upstream_gene_variant LIRI-JP 6 76344351 76344351 single base substitution A G intron_variant LIRI-JP 6 76345356 76345356 single base substitution A G downstream_gene_variant LIRI-JP 6 76345356 76345356 single base substitution A G intron_variant LIRI-JP 6 76346527 76346527 single base substitution A C downstream_gene_variant LIRI-JP 6 76346527 76346527 single base substitution A C intron_variant LIRI-JP 6 76347168 76347168 single base substitution T A downstream_gene_variant LIRI-JP 6 76347168 76347168 single base substitution T A intron_variant LIRI-JP 6 76348025 76348025 single base substitution A G downstream_gene_variant LIRI-JP 6 76348025 76348025 single base substitution A G intron_variant LIRI-JP 6 76351366 76351366 single base substitution A G intron_variant LIRI-JP 6 76351366 76351366 single base substitution A G upstream_gene_variant LIRI-JP 6 76355486 76355486 insertion of <=200bp - T intron_variant LIRI-JP 6 76355486 76355486 insertion of <=200bp - T upstream_gene_variant LIRI-JP 6 76357531 76357531 single base substitution T G intron_variant LIRI-JP 6 76364145 76364145 single base substitution A G intron_variant LIRI-JP 6 76366257 76366257 single base substitution T C intron_variant LIRI-JP 6 76366346 76366346 single base substitution A C intron_variant LIRI-JP 6 76369136 76369136 single base substitution A G intron_variant LIRI-JP 6 76370126 76370126 single base substitution A G intron_variant LIRI-JP 6 76370243 76370243 single base substitution C T intron_variant LIRI-JP 6 76372429 76372429 single base substitution T C intron_variant LIRI-JP 6 76372429 76372429 single base substitution T C upstream_gene_variant LIRI-JP 6 76372639 76372639 single base substitution A G intron_variant LIRI-JP 6 76372639 76372639 single base substitution A G upstream_gene_variant LIRI-JP 6 76374104 76374104 single base substitution A G downstream_gene_variant LIRI-JP 6 76374104 76374104 single base substitution A G intron_variant LIRI-JP 6 76374104 76374104 single base substitution A G upstream_gene_variant LIRI-JP 6 76374295 76374295 single base substitution A G downstream_gene_variant LIRI-JP 6 76374295 76374295 single base substitution A G intron_variant LIRI-JP 6 76374295 76374295 single base substitution A G upstream_gene_variant LIRI-JP 6 76376502 76376502 single base substitution G T downstream_gene_variant LIRI-JP 6 76376502 76376502 single base substitution G T missense_variant D247Y 739G>T LIRI-JP 6 76376502 76376502 single base substitution G T missense_variant D350Y 1048G>T LIRI-JP 6 76376502 76376502 single base substitution G T missense_variant D357Y 1069G>T LIRI-JP 6 76376502 76376502 single base substitution G T upstream_gene_variant LIRI-JP 6 76377724 76377724 single base substitution A G downstream_gene_variant LIRI-JP 6 76377724 76377724 single base substitution A G intron_variant LIRI-JP 6 76380077 76380077 single base substitution G T intron_variant LIRI-JP 6 76380853 76380853 single base substitution C T intron_variant LIRI-JP 6 76381497 76381497 single base substitution A G intron_variant LIRI-JP 6 76381497 76381497 single base substitution A G upstream_gene_variant LIRI-JP 6 76381633 76381633 single base substitution T A intron_variant LIRI-JP 6 76381633 76381633 single base substitution T A upstream_gene_variant LIRI-JP 6 76381659 76381659 single base substitution T C intron_variant LIRI-JP 6 76381659 76381659 single base substitution T C upstream_gene_variant LIRI-JP 6 76383447 76383447 single base substitution T C intron_variant LIRI-JP 6 76383447 76383447 single base substitution T C upstream_gene_variant LIRI-JP 6 76384572 76384572 single base substitution A G intron_variant LIRI-JP 6 76384572 76384572 single base substitution A G upstream_gene_variant LIRI-JP 6 76387358 76387358 single base substitution A T exon_variant LIRI-JP 6 76387358 76387358 single base substitution A T intron_variant LIRI-JP 6 76387358 76387358 single base substitution A T upstream_gene_variant LIRI-JP 6 76387692 76387692 single base substitution A G exon_variant LIRI-JP 6 76387692 76387692 single base substitution A G intron_variant LIRI-JP 6 76387692 76387692 single base substitution A G upstream_gene_variant LIRI-JP 6 76388177 76388177 single base substitution T C exon_variant LIRI-JP 6 76388177 76388177 single base substitution T C intron_variant LIRI-JP 6 76388177 76388177 single base substitution T C upstream_gene_variant LIRI-JP 6 76388716 76388716 single base substitution A T 3_prime_UTR_variant LIRI-JP 6 76388716 76388716 single base substitution A T downstream_gene_variant LIRI-JP 6 76388716 76388716 single base substitution A T intron_variant LIRI-JP 6 76390705 76390705 single base substitution A G downstream_gene_variant LIRI-JP 6 76390705 76390705 single base substitution A G intron_variant LIRI-JP 6 76390724 76390724 single base substitution A G downstream_gene_variant LIRI-JP 6 76390724 76390724 single base substitution A G intron_variant LIRI-JP 6 76391235 76391235 single base substitution C T downstream_gene_variant LIRI-JP 6 76391235 76391235 single base substitution C T intron_variant LIRI-JP 6 76391740 76391740 single base substitution A G downstream_gene_variant LIRI-JP 6 76391740 76391740 single base substitution A G intron_variant LIRI-JP 6 76392193 76392193 single base substitution A G downstream_gene_variant LIRI-JP 6 76392193 76392193 single base substitution A G intron_variant LIRI-JP 6 76394288 76394288 single base substitution A G downstream_gene_variant LIRI-JP 6 76394288 76394288 single base substitution A G intron_variant LIRI-JP 6 76396333 76396333 single base substitution C T intron_variant LIRI-JP 6 76398073 76398073 single base substitution G A intron_variant LIRI-JP 6 76401501 76401501 single base substitution G A intron_variant LIRI-JP 6 76402534 76402534 single base substitution A G intron_variant LIRI-JP 6 76402984 76402984 single base substitution G A intron_variant LIRI-JP 6 76404327 76404327 single base substitution A G intron_variant LIRI-JP 6 76405429 76405429 single base substitution G T intron_variant LIRI-JP 6 76407389 76407411 deletion of <=200bp TGCAGTTTCACAGTGAAGCATGT - exon_variant LIRI-JP 6 76407389 76407411 deletion of <=200bp TGCAGTTTCACAGTGAAGCATGT - intron_variant LIRI-JP 6 76407532 76407532 single base substitution A G exon_variant LIRI-JP 6 76407532 76407532 single base substitution A G intron_variant LIRI-JP 6 76409243 76409243 single base substitution A G downstream_gene_variant LIRI-JP 6 76409243 76409243 single base substitution A G intron_variant LIRI-JP 6 76409480 76409480 single base substitution A G downstream_gene_variant LIRI-JP 6 76409480 76409480 single base substitution A G intron_variant LIRI-JP 6 76409655 76409655 single base substitution C G downstream_gene_variant LIRI-JP 6 76409655 76409655 single base substitution C G intron_variant LIRI-JP 6 76412127 76412127 single base substitution T G downstream_gene_variant LIRI-JP 6 76412127 76412127 single base substitution T G intron_variant LIRI-JP 6 76412150 76412150 single base substitution T A downstream_gene_variant LIRI-JP 6 76412150 76412150 single base substitution T A intron_variant LIRI-JP 6 76414837 76414837 single base substitution A G intron_variant LIRI-JP 6 76415103 76415103 single base substitution A G intron_variant LIRI-JP 6 76415641 76415650 deletion of <=200bp CTTTTTTTTT - intron_variant LIRI-JP 6 76416237 76416237 single base substitution G T intron_variant LIRI-JP 6 76417872 76417872 single base substitution T C intron_variant LIRI-JP 6 76418629 76418629 single base substitution A G intron_variant LIRI-JP 6 76418844 76418844 single base substitution A G intron_variant LIRI-JP 6 76419798 76419798 single base substitution T G intron_variant LIRI-JP 6 76422528 76422528 single base substitution A G intron_variant LIRI-JP 6 76425969 76425969 single base substitution C T 3_prime_UTR_variant LIRI-JP 6 76425969 76425969 single base substitution C T downstream_gene_variant LIRI-JP 6 76430613 76430613 single base substitution G T downstream_gene_variant LIRI-JP 6 76432286 76432286 single base substitution C A downstream_gene_variant LIRI-JP 6 76432447 76432447 single base substitution T C downstream_gene_variant LUSC-KR 6 76307267 76307267 single base substitution G A upstream_gene_variant LUSC-KR 6 76309914 76309914 single base substitution G T upstream_gene_variant LUSC-KR 6 76310735 76310735 single base substitution A G upstream_gene_variant LUSC-KR 6 76312066 76312066 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 6 76320655 76320655 single base substitution G T intron_variant LUSC-KR 6 76324203 76324203 single base substitution C G intron_variant LUSC-KR 6 76332301 76332301 single base substitution A T intron_variant LUSC-KR 6 76335486 76335486 single base substitution G A intron_variant LUSC-KR 6 76342420 76342420 single base substitution G T intron_variant LUSC-KR 6 76342420 76342420 single base substitution G T upstream_gene_variant LUSC-KR 6 76344355 76344355 single base substitution G T intron_variant LUSC-KR 6 76344431 76344431 single base substitution C T 3_prime_UTR_variant LUSC-KR 6 76344431 76344431 single base substitution C T exon_variant LUSC-KR 6 76344431 76344431 single base substitution C T missense_variant T11M 32C>T LUSC-KR 6 76344431 76344431 single base substitution C T missense_variant T121M 362C>T LUSC-KR 6 76344431 76344431 single base substitution C T missense_variant T12M 35C>T LUSC-KR 6 76349060 76349060 single base substitution A G downstream_gene_variant LUSC-KR 6 76349060 76349060 single base substitution A G intron_variant LUSC-KR 6 76350868 76350868 single base substitution C T intron_variant LUSC-KR 6 76357593 76357593 single base substitution G A intron_variant LUSC-KR 6 76360257 76360257 single base substitution C T intron_variant LUSC-KR 6 76362412 76362412 single base substitution A G intron_variant LUSC-KR 6 76365800 76365800 single base substitution G T intron_variant LUSC-KR 6 76373038 76373038 single base substitution A G downstream_gene_variant LUSC-KR 6 76373038 76373038 single base substitution A G exon_variant LUSC-KR 6 76373038 76373038 single base substitution A G synonymous_variant Q156Q 468A>G LUSC-KR 6 76373038 76373038 single base substitution A G synonymous_variant Q259Q 777A>G LUSC-KR 6 76373038 76373038 single base substitution A G synonymous_variant Q266Q 798A>G LUSC-KR 6 76373038 76373038 single base substitution A G upstream_gene_variant LUSC-KR 6 76376552 76376552 single base substitution G A downstream_gene_variant LUSC-KR 6 76376552 76376552 single base substitution G A synonymous_variant A263A 789G>A LUSC-KR 6 76376552 76376552 single base substitution G A synonymous_variant A366A 1098G>A LUSC-KR 6 76376552 76376552 single base substitution G A synonymous_variant A373A 1119G>A LUSC-KR 6 76376552 76376552 single base substitution G A upstream_gene_variant LUSC-KR 6 76385330 76385330 single base substitution G C intron_variant LUSC-KR 6 76385330 76385330 single base substitution G C upstream_gene_variant LUSC-KR 6 76386365 76386365 single base substitution G T exon_variant LUSC-KR 6 76386365 76386365 single base substitution G T intron_variant LUSC-KR 6 76386365 76386365 single base substitution G T upstream_gene_variant LUSC-KR 6 76387037 76387037 single base substitution T G exon_variant LUSC-KR 6 76387037 76387037 single base substitution T G intron_variant LUSC-KR 6 76387037 76387037 single base substitution T G upstream_gene_variant LUSC-KR 6 76394900 76394900 single base substitution A G intron_variant LUSC-KR 6 76397265 76397265 single base substitution G T intron_variant LUSC-KR 6 76399063 76399063 single base substitution G C intron_variant LUSC-KR 6 76404450 76404450 single base substitution T C intron_variant LUSC-KR 6 76413996 76413996 single base substitution C T intron_variant LUSC-KR 6 76419187 76419187 single base substitution T G intron_variant LUSC-KR 6 76420808 76420808 single base substitution A T intron_variant LUSC-KR 6 76421003 76421003 single base substitution A G intron_variant LUSC-KR 6 76421220 76421220 single base substitution A C intron_variant LUSC-KR 6 76421894 76421894 single base substitution G A intron_variant LUSC-KR 6 76425288 76425288 single base substitution A G 3_prime_UTR_variant LUSC-KR 6 76425288 76425288 single base substitution A G missense_variant Y1099C 3296A>G LUSC-KR 6 76425288 76425288 single base substitution A G missense_variant Y1106C 3317A>G LUSC-US 6 76333641 76333641 single base substitution G A 3_prime_UTR_variant LUSC-US 6 76333641 76333641 single base substitution G A 5_prime_UTR_variant LUSC-US 6 76333641 76333641 single base substitution G A missense_variant E58K 172G>A LUSC-US 6 76388391 76388391 single base substitution C T exon_variant LUSC-US 6 76388391 76388391 single base substitution C T synonymous_variant F243F 729C>T LUSC-US 6 76388391 76388391 single base substitution C T synonymous_variant F537F 1611C>T LUSC-US 6 76388391 76388391 single base substitution C T synonymous_variant F640F 1920C>T LUSC-US 6 76388391 76388391 single base substitution C T synonymous_variant F647F 1941C>T LUSC-US 6 76388391 76388391 single base substitution C T upstream_gene_variant MALY-DE 6 76308626 76308626 single base substitution G A upstream_gene_variant MALY-DE 6 76312190 76312190 single base substitution G A 5_prime_UTR_variant MALY-DE 6 76313241 76313241 single base substitution A G intron_variant MALY-DE 6 76313297 76313297 single base substitution A C intron_variant MALY-DE 6 76313318 76313318 single base substitution A T intron_variant MALY-DE 6 76323100 76323100 single base substitution A G intron_variant MALY-DE 6 76332585 76332585 single base substitution C T intron_variant MALY-DE 6 76335201 76335201 single base substitution A G intron_variant MALY-DE 6 76353757 76353757 single base substitution G T intron_variant MALY-DE 6 76353757 76353757 single base substitution G T upstream_gene_variant MALY-DE 6 76355965 76355965 single base substitution T A intron_variant MALY-DE 6 76355965 76355965 single base substitution T A upstream_gene_variant MALY-DE 6 76366160 76366160 single base substitution C T intron_variant MALY-DE 6 76401535 76401535 single base substitution C T intron_variant MALY-DE 6 76415411 76415411 single base substitution C T intron_variant MALY-DE 6 76422657 76422657 insertion of <=200bp - A intron_variant MALY-DE 6 76423083 76423083 single base substitution C T intron_variant MELA-AU 6 76306238 76306238 single base substitution G A upstream_gene_variant MELA-AU 6 76306603 76306603 single base substitution G A upstream_gene_variant MELA-AU 6 76306880 76306880 single base substitution G A upstream_gene_variant MELA-AU 6 76307043 76307043 single base substitution G A upstream_gene_variant MELA-AU 6 76307114 76307114 single base substitution G A upstream_gene_variant MELA-AU 6 76307539 76307539 single base substitution G A upstream_gene_variant MELA-AU 6 76307754 76307754 single base substitution C T upstream_gene_variant MELA-AU 6 76308899 76308899 single base substitution G A upstream_gene_variant MELA-AU 6 76308903 76308903 single base substitution G A upstream_gene_variant MELA-AU 6 76308951 76308952 multiple base substitution (>=2bp and <=200bp) AA CC upstream_gene_variant MELA-AU 6 76308956 76308956 single base substitution T G upstream_gene_variant MELA-AU 6 76309160 76309160 single base substitution T A upstream_gene_variant MELA-AU 6 76309224 76309224 single base substitution T A upstream_gene_variant MELA-AU 6 76309345 76309345 single base substitution G A upstream_gene_variant MELA-AU 6 76309759 76309759 single base substitution G A upstream_gene_variant MELA-AU 6 76310001 76310001 single base substitution C T upstream_gene_variant MELA-AU 6 76310212 76310212 single base substitution C T upstream_gene_variant MELA-AU 6 76310213 76310213 single base substitution C T upstream_gene_variant MELA-AU 6 76310407 76310407 single base substitution A C upstream_gene_variant MELA-AU 6 76311836 76311836 insertion of <=200bp - GG 5_prime_UTR_variant MELA-AU 6 76311836 76311836 insertion of <=200bp - GG upstream_gene_variant MELA-AU 6 76312392 76312392 single base substitution C T intron_variant MELA-AU 6 76313581 76313582 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 6 76314459 76314459 single base substitution C T intron_variant MELA-AU 6 76315483 76315483 single base substitution G A intron_variant MELA-AU 6 76317636 76317636 single base substitution C T intron_variant MELA-AU 6 76318029 76318029 single base substitution T C intron_variant MELA-AU 6 76318175 76318175 single base substitution A T intron_variant MELA-AU 6 76319322 76319322 single base substitution C T intron_variant MELA-AU 6 76319591 76319592 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 76319604 76319604 single base substitution A G intron_variant MELA-AU 6 76319901 76319901 single base substitution C T intron_variant MELA-AU 6 76321280 76321280 single base substitution C T intron_variant MELA-AU 6 76321973 76321973 single base substitution G A intron_variant MELA-AU 6 76322305 76322305 single base substitution C T intron_variant MELA-AU 6 76323540 76323540 single base substitution C T intron_variant MELA-AU 6 76324727 76324727 single base substitution C T intron_variant MELA-AU 6 76324810 76324810 single base substitution T C intron_variant MELA-AU 6 76324867 76324867 single base substitution A G intron_variant MELA-AU 6 76326980 76326980 single base substitution T G intron_variant MELA-AU 6 76326980 76326980 single base substitution T G upstream_gene_variant MELA-AU 6 76328050 76328050 single base substitution C T intron_variant MELA-AU 6 76328050 76328050 single base substitution C T upstream_gene_variant MELA-AU 6 76329161 76329161 single base substitution A G intron_variant MELA-AU 6 76329161 76329161 single base substitution A G upstream_gene_variant MELA-AU 6 76331316 76331316 single base substitution G A 5_prime_UTR_variant MELA-AU 6 76331316 76331316 single base substitution G A exon_variant MELA-AU 6 76331316 76331316 single base substitution G A missense_variant E41K 121G>A MELA-AU 6 76331430 76331430 single base substitution A T intron_variant MELA-AU 6 76331703 76331703 single base substitution T C intron_variant MELA-AU 6 76332053 76332053 single base substitution C T intron_variant MELA-AU 6 76332157 76332157 single base substitution C T intron_variant MELA-AU 6 76332158 76332158 single base substitution C T intron_variant MELA-AU 6 76333323 76333323 single base substitution C T intron_variant MELA-AU 6 76333532 76333532 single base substitution G A intron_variant MELA-AU 6 76335884 76335884 single base substitution G A intron_variant MELA-AU 6 76335904 76335904 single base substitution C T intron_variant MELA-AU 6 76335997 76335997 single base substitution C T intron_variant MELA-AU 6 76336013 76336013 single base substitution C T intron_variant MELA-AU 6 76336466 76336466 single base substitution C T intron_variant MELA-AU 6 76336615 76336615 single base substitution C T intron_variant MELA-AU 6 76337008 76337008 single base substitution C T intron_variant MELA-AU 6 76337110 76337110 single base substitution C T intron_variant MELA-AU 6 76337213 76337213 single base substitution C T intron_variant MELA-AU 6 76337259 76337259 single base substitution C T intron_variant MELA-AU 6 76337274 76337274 single base substitution G A intron_variant MELA-AU 6 76337646 76337646 single base substitution C T intron_variant MELA-AU 6 76338234 76338234 single base substitution T C intron_variant MELA-AU 6 76338460 76338460 single base substitution G A intron_variant MELA-AU 6 76338460 76338460 single base substitution G A upstream_gene_variant MELA-AU 6 76338543 76338543 single base substitution C T intron_variant MELA-AU 6 76338543 76338543 single base substitution C T upstream_gene_variant MELA-AU 6 76339145 76339145 single base substitution A T intron_variant MELA-AU 6 76339145 76339145 single base substitution A T upstream_gene_variant MELA-AU 6 76340578 76340578 single base substitution C T intron_variant MELA-AU 6 76340578 76340578 single base substitution C T upstream_gene_variant MELA-AU 6 76342501 76342501 single base substitution C T intron_variant MELA-AU 6 76342501 76342501 single base substitution C T upstream_gene_variant MELA-AU 6 76344224 76344224 single base substitution C T intron_variant MELA-AU 6 76344631 76344631 single base substitution C T downstream_gene_variant MELA-AU 6 76344631 76344631 single base substitution C T exon_variant MELA-AU 6 76344631 76344631 single base substitution C T intron_variant MELA-AU 6 76344809 76344809 single base substitution G A downstream_gene_variant MELA-AU 6 76344809 76344809 single base substitution G A intron_variant MELA-AU 6 76345084 76345084 single base substitution C T downstream_gene_variant MELA-AU 6 76345084 76345084 single base substitution C T intron_variant MELA-AU 6 76345274 76345274 single base substitution G A downstream_gene_variant MELA-AU 6 76345274 76345274 single base substitution G A intron_variant MELA-AU 6 76345523 76345523 single base substitution G A downstream_gene_variant MELA-AU 6 76345523 76345523 single base substitution G A intron_variant MELA-AU 6 76347147 76347147 single base substitution T A downstream_gene_variant MELA-AU 6 76347147 76347147 single base substitution T A intron_variant MELA-AU 6 76347268 76347268 single base substitution C T downstream_gene_variant MELA-AU 6 76347268 76347268 single base substitution C T intron_variant MELA-AU 6 76347886 76347886 single base substitution G A downstream_gene_variant MELA-AU 6 76347886 76347886 single base substitution G A intron_variant MELA-AU 6 76347946 76347946 single base substitution C T downstream_gene_variant MELA-AU 6 76347946 76347946 single base substitution C T intron_variant MELA-AU 6 76348098 76348098 single base substitution C T downstream_gene_variant MELA-AU 6 76348098 76348098 single base substitution C T intron_variant MELA-AU 6 76348455 76348455 single base substitution C T downstream_gene_variant MELA-AU 6 76348455 76348455 single base substitution C T intron_variant MELA-AU 6 76348571 76348571 single base substitution C T downstream_gene_variant MELA-AU 6 76348571 76348571 single base substitution C T intron_variant MELA-AU 6 76349086 76349086 single base substitution T C downstream_gene_variant MELA-AU 6 76349086 76349086 single base substitution T C intron_variant MELA-AU 6 76349285 76349285 single base substitution C T downstream_gene_variant MELA-AU 6 76349285 76349285 single base substitution C T intron_variant MELA-AU 6 76349556 76349556 single base substitution T C downstream_gene_variant MELA-AU 6 76349556 76349556 single base substitution T C intron_variant MELA-AU 6 76349714 76349714 single base substitution G A downstream_gene_variant MELA-AU 6 76349714 76349714 single base substitution G A intron_variant MELA-AU 6 76349961 76349961 single base substitution C T intron_variant MELA-AU 6 76350744 76350744 single base substitution C T intron_variant MELA-AU 6 76352258 76352258 single base substitution C T intron_variant MELA-AU 6 76352258 76352258 single base substitution C T upstream_gene_variant MELA-AU 6 76353379 76353379 deletion of <=200bp A - intron_variant MELA-AU 6 76353379 76353379 deletion of <=200bp A - upstream_gene_variant MELA-AU 6 76354802 76354802 single base substitution C T intron_variant MELA-AU 6 76354802 76354802 single base substitution C T upstream_gene_variant MELA-AU 6 76357487 76357487 single base substitution C T exon_variant MELA-AU 6 76357487 76357487 single base substitution C T missense_variant P167S 499C>T MELA-AU 6 76357487 76357487 single base substitution C T missense_variant P174S 520C>T MELA-AU 6 76357487 76357487 single base substitution C T missense_variant P64S 190C>T MELA-AU 6 76358825 76358825 single base substitution C T intron_variant MELA-AU 6 76360114 76360114 single base substitution C T intron_variant MELA-AU 6 76360241 76360241 single base substitution C T intron_variant MELA-AU 6 76361603 76361603 single base substitution T C intron_variant MELA-AU 6 76361868 76361868 single base substitution G T intron_variant MELA-AU 6 76361962 76361962 single base substitution C T intron_variant MELA-AU 6 76362776 76362776 single base substitution C T intron_variant MELA-AU 6 76362991 76362991 single base substitution C T intron_variant MELA-AU 6 76363688 76363688 single base substitution C T intron_variant MELA-AU 6 76364125 76364125 single base substitution G A intron_variant MELA-AU 6 76365218 76365218 single base substitution C T intron_variant MELA-AU 6 76365488 76365488 single base substitution G A intron_variant MELA-AU 6 76366001 76366001 single base substitution C T intron_variant MELA-AU 6 76366267 76366267 single base substitution C G intron_variant MELA-AU 6 76366296 76366296 single base substitution C T intron_variant MELA-AU 6 76366350 76366350 single base substitution C T intron_variant MELA-AU 6 76366984 76366985 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 76368202 76368202 single base substitution C T intron_variant MELA-AU 6 76368339 76368339 single base substitution C T intron_variant MELA-AU 6 76368428 76368428 single base substitution T C intron_variant MELA-AU 6 76370105 76370105 single base substitution C T intron_variant MELA-AU 6 76370305 76370305 single base substitution C T intron_variant MELA-AU 6 76370365 76370365 single base substitution C T intron_variant MELA-AU 6 76370664 76370664 single base substitution T C intron_variant MELA-AU 6 76371306 76371306 single base substitution C T intron_variant MELA-AU 6 76371642 76371642 single base substitution C T intron_variant MELA-AU 6 76371642 76371642 single base substitution C T upstream_gene_variant MELA-AU 6 76371736 76371736 single base substitution C T intron_variant MELA-AU 6 76371736 76371736 single base substitution C T upstream_gene_variant MELA-AU 6 76371795 76371795 single base substitution A G intron_variant MELA-AU 6 76371795 76371795 single base substitution A G upstream_gene_variant MELA-AU 6 76372023 76372023 single base substitution T A intron_variant MELA-AU 6 76372023 76372023 single base substitution T A upstream_gene_variant MELA-AU 6 76372169 76372169 single base substitution C T intron_variant MELA-AU 6 76372169 76372169 single base substitution C T upstream_gene_variant MELA-AU 6 76372186 76372201 deletion of <=200bp TAACATAAAATTTTTA - intron_variant MELA-AU 6 76372186 76372201 deletion of <=200bp TAACATAAAATTTTTA - upstream_gene_variant MELA-AU 6 76372812 76372812 single base substitution C T intron_variant MELA-AU 6 76372812 76372812 single base substitution C T upstream_gene_variant MELA-AU 6 76373269 76373269 single base substitution C T downstream_gene_variant MELA-AU 6 76373269 76373269 single base substitution C T intron_variant MELA-AU 6 76373269 76373269 single base substitution C T upstream_gene_variant MELA-AU 6 76373310 76373310 single base substitution C T downstream_gene_variant MELA-AU 6 76373310 76373310 single base substitution C T intron_variant MELA-AU 6 76373310 76373310 single base substitution C T upstream_gene_variant MELA-AU 6 76374545 76374561 deletion of <=200bp CAGGCCTGGGGATATAG - downstream_gene_variant MELA-AU 6 76374545 76374561 deletion of <=200bp CAGGCCTGGGGATATAG - intron_variant MELA-AU 6 76374545 76374561 deletion of <=200bp CAGGCCTGGGGATATAG - upstream_gene_variant MELA-AU 6 76375490 76375490 single base substitution C T downstream_gene_variant MELA-AU 6 76375490 76375490 single base substitution C T intron_variant MELA-AU 6 76375490 76375490 single base substitution C T upstream_gene_variant MELA-AU 6 76375714 76375714 single base substitution C T downstream_gene_variant MELA-AU 6 76375714 76375714 single base substitution C T intron_variant MELA-AU 6 76375714 76375714 single base substitution C T upstream_gene_variant MELA-AU 6 76375886 76375886 single base substitution A G downstream_gene_variant MELA-AU 6 76375886 76375886 single base substitution A G intron_variant MELA-AU 6 76375886 76375886 single base substitution A G upstream_gene_variant MELA-AU 6 76376533 76376533 single base substitution C T downstream_gene_variant MELA-AU 6 76376533 76376533 single base substitution C T missense_variant T257I 770C>T MELA-AU 6 76376533 76376533 single base substitution C T missense_variant T360I 1079C>T MELA-AU 6 76376533 76376533 single base substitution C T missense_variant T367I 1100C>T MELA-AU 6 76376533 76376533 single base substitution C T upstream_gene_variant MELA-AU 6 76376687 76376687 single base substitution A G downstream_gene_variant MELA-AU 6 76376687 76376687 single base substitution A G intron_variant MELA-AU 6 76377235 76377235 single base substitution G A downstream_gene_variant MELA-AU 6 76377235 76377235 single base substitution G A intron_variant MELA-AU 6 76377323 76377323 single base substitution G C downstream_gene_variant MELA-AU 6 76377323 76377323 single base substitution G C intron_variant MELA-AU 6 76377615 76377615 single base substitution G A downstream_gene_variant MELA-AU 6 76377615 76377615 single base substitution G A intron_variant MELA-AU 6 76377898 76377898 single base substitution C T downstream_gene_variant MELA-AU 6 76377898 76377898 single base substitution C T intron_variant MELA-AU 6 76377935 76377936 deletion of <=200bp GC - downstream_gene_variant MELA-AU 6 76377935 76377936 deletion of <=200bp GC - intron_variant MELA-AU 6 76377975 76377975 single base substitution C T downstream_gene_variant MELA-AU 6 76377975 76377975 single base substitution C T intron_variant MELA-AU 6 76378869 76378869 single base substitution C T intron_variant MELA-AU 6 76379748 76379748 single base substitution T C intron_variant MELA-AU 6 76379904 76379904 single base substitution C T intron_variant MELA-AU 6 76380154 76380154 single base substitution C T intron_variant MELA-AU 6 76380193 76380193 single base substitution C T intron_variant MELA-AU 6 76380465 76380465 single base substitution C T intron_variant MELA-AU 6 76380487 76380487 single base substitution C T intron_variant MELA-AU 6 76381008 76381008 single base substitution T A intron_variant MELA-AU 6 76381407 76381407 single base substitution C T intron_variant MELA-AU 6 76381407 76381407 single base substitution C T upstream_gene_variant MELA-AU 6 76381847 76381847 single base substitution C T intron_variant MELA-AU 6 76381847 76381847 single base substitution C T upstream_gene_variant MELA-AU 6 76381939 76381939 single base substitution C A intron_variant MELA-AU 6 76381939 76381939 single base substitution C A upstream_gene_variant MELA-AU 6 76383154 76383154 single base substitution C T intron_variant MELA-AU 6 76383154 76383154 single base substitution C T upstream_gene_variant MELA-AU 6 76383741 76383741 single base substitution A T intron_variant MELA-AU 6 76383741 76383741 single base substitution A T upstream_gene_variant MELA-AU 6 76383908 76383908 single base substitution C T intron_variant MELA-AU 6 76383908 76383908 single base substitution C T upstream_gene_variant MELA-AU 6 76384364 76384364 single base substitution C T intron_variant MELA-AU 6 76384364 76384364 single base substitution C T upstream_gene_variant MELA-AU 6 76384759 76384759 single base substitution C T intron_variant MELA-AU 6 76384759 76384759 single base substitution C T upstream_gene_variant MELA-AU 6 76384961 76384961 single base substitution T C intron_variant MELA-AU 6 76384961 76384961 single base substitution T C upstream_gene_variant MELA-AU 6 76385553 76385553 single base substitution C T intron_variant MELA-AU 6 76385553 76385553 single base substitution C T upstream_gene_variant MELA-AU 6 76386083 76386083 single base substitution G A intron_variant MELA-AU 6 76386083 76386083 single base substitution G A upstream_gene_variant MELA-AU 6 76387158 76387158 single base substitution C T exon_variant MELA-AU 6 76387158 76387158 single base substitution C T intron_variant MELA-AU 6 76387158 76387158 single base substitution C T upstream_gene_variant MELA-AU 6 76388549 76388550 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 6 76388549 76388550 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P257L 769CC>TT MELA-AU 6 76388549 76388550 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P551L 1651CC>TT MELA-AU 6 76388549 76388550 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P654L 1960CC>TT MELA-AU 6 76388549 76388550 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P661L 1981CC>TT MELA-AU 6 76389052 76389052 single base substitution T C 3_prime_UTR_variant MELA-AU 6 76389052 76389052 single base substitution T C downstream_gene_variant MELA-AU 6 76389052 76389052 single base substitution T C intron_variant MELA-AU 6 76389128 76389128 single base substitution C T 3_prime_UTR_variant MELA-AU 6 76389128 76389128 single base substitution C T downstream_gene_variant MELA-AU 6 76389128 76389128 single base substitution C T intron_variant MELA-AU 6 76389130 76389131 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 6 76389130 76389131 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 6 76389130 76389131 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 76389131 76389131 single base substitution C T 3_prime_UTR_variant MELA-AU 6 76389131 76389131 single base substitution C T downstream_gene_variant MELA-AU 6 76389131 76389131 single base substitution C T intron_variant MELA-AU 6 76391049 76391049 single base substitution C T downstream_gene_variant MELA-AU 6 76391049 76391049 single base substitution C T intron_variant MELA-AU 6 76392262 76392262 single base substitution C T downstream_gene_variant MELA-AU 6 76392262 76392262 single base substitution C T intron_variant MELA-AU 6 76392292 76392292 single base substitution C T downstream_gene_variant MELA-AU 6 76392292 76392292 single base substitution C T intron_variant MELA-AU 6 76392384 76392384 single base substitution T A downstream_gene_variant MELA-AU 6 76392384 76392384 single base substitution T A intron_variant MELA-AU 6 76393599 76393599 single base substitution C T downstream_gene_variant MELA-AU 6 76393599 76393599 single base substitution C T intron_variant MELA-AU 6 76393925 76393925 single base substitution G T downstream_gene_variant MELA-AU 6 76393925 76393925 single base substitution G T intron_variant MELA-AU 6 76394377 76394377 single base substitution G A downstream_gene_variant MELA-AU 6 76394377 76394377 single base substitution G A intron_variant MELA-AU 6 76395306 76395331 deletion of <=200bp TACGTTGTGCCTTTGTTCTCACTGGT - intron_variant MELA-AU 6 76395565 76395565 single base substitution T G intron_variant MELA-AU 6 76395835 76395835 single base substitution T C intron_variant MELA-AU 6 76395849 76395849 single base substitution C T intron_variant MELA-AU 6 76396189 76396189 single base substitution G T intron_variant MELA-AU 6 76396219 76396219 single base substitution C A intron_variant MELA-AU 6 76397189 76397189 single base substitution G C intron_variant MELA-AU 6 76397191 76397191 single base substitution G T intron_variant MELA-AU 6 76397358 76397358 single base substitution C T intron_variant MELA-AU 6 76397473 76397473 single base substitution C T intron_variant MELA-AU 6 76398064 76398064 single base substitution C T intron_variant MELA-AU 6 76398549 76398549 single base substitution C T intron_variant MELA-AU 6 76399664 76399664 single base substitution C T intron_variant MELA-AU 6 76400766 76400766 single base substitution C T intron_variant MELA-AU 6 76400950 76400950 single base substitution C T intron_variant MELA-AU 6 76401817 76401817 single base substitution C T intron_variant MELA-AU 6 76402583 76402583 single base substitution C T intron_variant MELA-AU 6 76403361 76403361 single base substitution A G intron_variant MELA-AU 6 76403607 76403607 single base substitution C T intron_variant MELA-AU 6 76403926 76403926 single base substitution C T intron_variant MELA-AU 6 76403995 76403995 single base substitution A G intron_variant MELA-AU 6 76404350 76404350 single base substitution G A intron_variant MELA-AU 6 76404384 76404384 single base substitution C T intron_variant MELA-AU 6 76405810 76405810 single base substitution C T intron_variant MELA-AU 6 76405934 76405934 single base substitution C T intron_variant MELA-AU 6 76407063 76407063 single base substitution C T intron_variant MELA-AU 6 76408778 76408778 single base substitution C T downstream_gene_variant MELA-AU 6 76408778 76408778 single base substitution C T intron_variant MELA-AU 6 76409003 76409003 single base substitution A G downstream_gene_variant MELA-AU 6 76409003 76409003 single base substitution A G intron_variant MELA-AU 6 76409167 76409167 single base substitution T C downstream_gene_variant MELA-AU 6 76409167 76409167 single base substitution T C intron_variant MELA-AU 6 76409176 76409176 single base substitution C T downstream_gene_variant MELA-AU 6 76409176 76409176 single base substitution C T intron_variant MELA-AU 6 76410309 76410309 single base substitution C T downstream_gene_variant MELA-AU 6 76410309 76410309 single base substitution C T intron_variant MELA-AU 6 76410736 76410736 single base substitution C T downstream_gene_variant MELA-AU 6 76410736 76410736 single base substitution C T intron_variant MELA-AU 6 76411510 76411510 single base substitution C T downstream_gene_variant MELA-AU 6 76411510 76411510 single base substitution C T intron_variant MELA-AU 6 76412617 76412617 single base substitution C T downstream_gene_variant MELA-AU 6 76412617 76412617 single base substitution C T intron_variant MELA-AU 6 76412617 76412617 single base substitution C T missense_variant R842C 2524C>T MELA-AU 6 76412617 76412617 single base substitution C T missense_variant R849C 2545C>T MELA-AU 6 76413446 76413446 single base substitution C T intron_variant MELA-AU 6 76413642 76413642 single base substitution C T intron_variant MELA-AU 6 76413875 76413875 single base substitution G A intron_variant MELA-AU 6 76414310 76414310 single base substitution C T intron_variant MELA-AU 6 76414885 76414885 single base substitution C T intron_variant MELA-AU 6 76415133 76415133 single base substitution C T intron_variant MELA-AU 6 76416942 76416942 single base substitution C T intron_variant MELA-AU 6 76418359 76418359 single base substitution C T intron_variant MELA-AU 6 76418796 76418796 single base substitution C T intron_variant MELA-AU 6 76418936 76418936 single base substitution A G intron_variant MELA-AU 6 76419231 76419231 single base substitution T G intron_variant MELA-AU 6 76419926 76419926 single base substitution C T intron_variant MELA-AU 6 76419996 76419996 single base substitution C T intron_variant MELA-AU 6 76420849 76420849 single base substitution C T intron_variant MELA-AU 6 76421469 76421469 single base substitution A G intron_variant MELA-AU 6 76421793 76421793 single base substitution C T intron_variant MELA-AU 6 76422155 76422155 single base substitution G A intron_variant MELA-AU 6 76422294 76422294 single base substitution A C intron_variant MELA-AU 6 76422297 76422297 single base substitution A T intron_variant MELA-AU 6 76422300 76422300 single base substitution T G intron_variant MELA-AU 6 76423303 76423303 single base substitution T C splice_region_variant MELA-AU 6 76423317 76423317 single base substitution C T intron_variant MELA-AU 6 76423755 76423755 single base substitution C T intron_variant MELA-AU 6 76425203 76425203 single base substitution C T 3_prime_UTR_variant MELA-AU 6 76425203 76425203 single base substitution C T synonymous_variant L1071L 3211C>T MELA-AU 6 76425203 76425203 single base substitution C T synonymous_variant L1078L 3232C>T MELA-AU 6 76425451 76425451 single base substitution C T 3_prime_UTR_variant MELA-AU 6 76426079 76426079 single base substitution T C 3_prime_UTR_variant MELA-AU 6 76426079 76426079 single base substitution T C downstream_gene_variant MELA-AU 6 76426428 76426428 single base substitution C T 3_prime_UTR_variant MELA-AU 6 76426428 76426428 single base substitution C T downstream_gene_variant MELA-AU 6 76426540 76426540 single base substitution G A 3_prime_UTR_variant MELA-AU 6 76426540 76426540 single base substitution G A downstream_gene_variant MELA-AU 6 76427131 76427131 single base substitution C T 3_prime_UTR_variant MELA-AU 6 76427131 76427131 single base substitution C T downstream_gene_variant MELA-AU 6 76427234 76427234 single base substitution C T 3_prime_UTR_variant MELA-AU 6 76427234 76427234 single base substitution C T downstream_gene_variant MELA-AU 6 76427781 76427781 single base substitution G A 3_prime_UTR_variant MELA-AU 6 76427781 76427781 single base substitution G A downstream_gene_variant MELA-AU 6 76427875 76427875 single base substitution C T 3_prime_UTR_variant MELA-AU 6 76427875 76427875 single base substitution C T downstream_gene_variant MELA-AU 6 76428593 76428593 single base substitution C T downstream_gene_variant MELA-AU 6 76429808 76429808 single base substitution C T downstream_gene_variant MELA-AU 6 76430702 76430702 single base substitution T G downstream_gene_variant MELA-AU 6 76430948 76430948 single base substitution C T downstream_gene_variant MELA-AU 6 76431936 76431936 single base substitution G A downstream_gene_variant MELA-AU 6 76432035 76432035 single base substitution C T downstream_gene_variant MELA-AU 6 76432138 76432138 single base substitution G A downstream_gene_variant MELA-AU 6 76432197 76432197 single base substitution C T downstream_gene_variant ORCA-IN 6 76309052 76309052 single base substitution C T upstream_gene_variant ORCA-IN 6 76338883 76338883 single base substitution G C intron_variant ORCA-IN 6 76338883 76338883 single base substitution G C upstream_gene_variant ORCA-IN 6 76362337 76362337 single base substitution G C intron_variant ORCA-IN 6 76385827 76385827 single base substitution C G intron_variant ORCA-IN 6 76385827 76385827 single base substitution C G upstream_gene_variant ORCA-IN 6 76429704 76429704 single base substitution C A downstream_gene_variant OV-AU 6 76316029 76316029 single base substitution T G intron_variant OV-AU 6 76318448 76318448 single base substitution A C intron_variant OV-AU 6 76321766 76321766 single base substitution G T intron_variant OV-AU 6 76324785 76324785 single base substitution T A intron_variant OV-AU 6 76346607 76346607 single base substitution T A downstream_gene_variant OV-AU 6 76346607 76346607 single base substitution T A intron_variant OV-AU 6 76349615 76349615 single base substitution T A downstream_gene_variant OV-AU 6 76349615 76349615 single base substitution T A intron_variant OV-AU 6 76355970 76355970 single base substitution A G intron_variant OV-AU 6 76355970 76355970 single base substitution A G upstream_gene_variant OV-AU 6 76357180 76357180 single base substitution G A exon_variant OV-AU 6 76357180 76357180 single base substitution G A intron_variant OV-AU 6 76364971 76364971 single base substitution G A intron_variant OV-AU 6 76369811 76369811 single base substitution C G intron_variant OV-AU 6 76370437 76370437 single base substitution C A intron_variant OV-AU 6 76373856 76373856 single base substitution C T downstream_gene_variant OV-AU 6 76373856 76373856 single base substitution C T intron_variant OV-AU 6 76373856 76373856 single base substitution C T upstream_gene_variant OV-AU 6 76379579 76379579 single base substitution G C intron_variant OV-AU 6 76382708 76382708 single base substitution T A intron_variant OV-AU 6 76382708 76382708 single base substitution T A upstream_gene_variant OV-AU 6 76382942 76382942 single base substitution T A intron_variant OV-AU 6 76382942 76382942 single base substitution T A upstream_gene_variant OV-AU 6 76384559 76384559 single base substitution G A intron_variant OV-AU 6 76384559 76384559 single base substitution G A upstream_gene_variant OV-AU 6 76393448 76393448 single base substitution C T downstream_gene_variant OV-AU 6 76393448 76393448 single base substitution C T intron_variant OV-AU 6 76404105 76404105 single base substitution A T intron_variant OV-AU 6 76404692 76404692 single base substitution G C intron_variant OV-AU 6 76410288 76410288 single base substitution C T downstream_gene_variant OV-AU 6 76410288 76410288 single base substitution C T intron_variant OV-AU 6 76413049 76413049 single base substitution T C intron_variant OV-AU 6 76414502 76414502 single base substitution G A intron_variant OV-AU 6 76417179 76417179 single base substitution A C intron_variant OV-AU 6 76429591 76429591 single base substitution T G downstream_gene_variant OV-US 6 76373130 76373130 single base substitution C G downstream_gene_variant OV-US 6 76373130 76373130 single base substitution C G exon_variant OV-US 6 76373130 76373130 single base substitution C G missense_variant T187S 560C>G OV-US 6 76373130 76373130 single base substitution C G missense_variant T290S 869C>G OV-US 6 76373130 76373130 single base substitution C G missense_variant T297S 890C>G OV-US 6 76373130 76373130 single base substitution C G upstream_gene_variant PACA-AU 6 76309489 76309489 single base substitution C A upstream_gene_variant PACA-AU 6 76319449 76319449 single base substitution T C intron_variant PACA-AU 6 76320585 76320585 deletion of <=200bp T - intron_variant PACA-AU 6 76321671 76321671 single base substitution T G intron_variant PACA-AU 6 76325415 76325415 single base substitution A T intron_variant PACA-AU 6 76325415 76325415 single base substitution A T upstream_gene_variant PACA-AU 6 76325839 76325839 single base substitution T C intron_variant PACA-AU 6 76325839 76325839 single base substitution T C upstream_gene_variant PACA-AU 6 76334149 76334149 single base substitution A T intron_variant PACA-AU 6 76339064 76339064 single base substitution G A intron_variant PACA-AU 6 76339064 76339064 single base substitution G A upstream_gene_variant PACA-AU 6 76340576 76340576 single base substitution T G intron_variant PACA-AU 6 76340576 76340576 single base substitution T G upstream_gene_variant PACA-AU 6 76346139 76346139 single base substitution G A downstream_gene_variant PACA-AU 6 76346139 76346139 single base substitution G A intron_variant PACA-AU 6 76347663 76347663 single base substitution A T downstream_gene_variant PACA-AU 6 76347663 76347663 single base substitution A T intron_variant PACA-AU 6 76347768 76347768 single base substitution C T downstream_gene_variant PACA-AU 6 76347768 76347768 single base substitution C T intron_variant PACA-AU 6 76348805 76348805 deletion of <=200bp T - downstream_gene_variant PACA-AU 6 76348805 76348805 deletion of <=200bp T - intron_variant PACA-AU 6 76349546 76349546 single base substitution A T downstream_gene_variant PACA-AU 6 76349546 76349546 single base substitution A T intron_variant PACA-AU 6 76360212 76360212 single base substitution C T intron_variant PACA-AU 6 76368218 76368218 single base substitution C A intron_variant PACA-AU 6 76378514 76378514 single base substitution A G intron_variant PACA-AU 6 76385407 76385407 single base substitution C T intron_variant PACA-AU 6 76385407 76385407 single base substitution C T upstream_gene_variant PACA-AU 6 76385434 76385434 single base substitution T A intron_variant PACA-AU 6 76385434 76385434 single base substitution T A upstream_gene_variant PACA-AU 6 76387240 76387240 single base substitution A G exon_variant PACA-AU 6 76387240 76387240 single base substitution A G intron_variant PACA-AU 6 76387240 76387240 single base substitution A G upstream_gene_variant PACA-AU 6 76387998 76387998 single base substitution G A exon_variant PACA-AU 6 76387998 76387998 single base substitution G A intron_variant PACA-AU 6 76387998 76387998 single base substitution G A upstream_gene_variant PACA-AU 6 76400862 76400862 single base substitution T A intron_variant PACA-AU 6 76408711 76408711 single base substitution A T downstream_gene_variant PACA-AU 6 76408711 76408711 single base substitution A T intron_variant PACA-AU 6 76410197 76410197 single base substitution C A downstream_gene_variant PACA-AU 6 76410197 76410197 single base substitution C A intron_variant PACA-AU 6 76414443 76414443 single base substitution G A intron_variant PACA-AU 6 76415282 76415282 single base substitution T A intron_variant PACA-AU 6 76421791 76421791 single base substitution T A intron_variant PACA-AU 6 76427454 76427454 single base substitution T C 3_prime_UTR_variant PACA-AU 6 76427454 76427454 single base substitution T C downstream_gene_variant PACA-AU 6 76429164 76429164 deletion of <=200bp C - downstream_gene_variant PACA-AU 6 76430573 76430573 deletion of <=200bp T - downstream_gene_variant PACA-CA 6 76307314 76307314 single base substitution G A upstream_gene_variant PACA-CA 6 76308338 76308338 single base substitution C A upstream_gene_variant PACA-CA 6 76309518 76309518 single base substitution C T upstream_gene_variant PACA-CA 6 76309937 76309937 single base substitution T A upstream_gene_variant PACA-CA 6 76316908 76316908 insertion of <=200bp - A intron_variant PACA-CA 6 76323642 76323642 single base substitution G T intron_variant PACA-CA 6 76325582 76325582 single base substitution A C intron_variant PACA-CA 6 76325582 76325582 single base substitution A C upstream_gene_variant PACA-CA 6 76327295 76327295 single base substitution G T intron_variant PACA-CA 6 76327295 76327295 single base substitution G T upstream_gene_variant PACA-CA 6 76347030 76347030 single base substitution A G downstream_gene_variant PACA-CA 6 76347030 76347030 single base substitution A G intron_variant PACA-CA 6 76351156 76351156 single base substitution G C intron_variant PACA-CA 6 76365144 76365144 single base substitution G A intron_variant PACA-CA 6 76366085 76366091 deletion of <=200bp GTCTTAA - intron_variant PACA-CA 6 76367071 76367071 single base substitution G A intron_variant PACA-CA 6 76367280 76367280 deletion of <=200bp T - intron_variant PACA-CA 6 76369695 76369695 single base substitution C T intron_variant PACA-CA 6 76371099 76371100 deletion of <=200bp AA - intron_variant PACA-CA 6 76375261 76375261 single base substitution G A downstream_gene_variant PACA-CA 6 76375261 76375261 single base substitution G A intron_variant PACA-CA 6 76375261 76375261 single base substitution G A upstream_gene_variant PACA-CA 6 76375321 76375321 single base substitution A G downstream_gene_variant PACA-CA 6 76375321 76375321 single base substitution A G intron_variant PACA-CA 6 76375321 76375321 single base substitution A G upstream_gene_variant PACA-CA 6 76377799 76377799 deletion of <=200bp A - downstream_gene_variant PACA-CA 6 76377799 76377799 deletion of <=200bp A - intron_variant PACA-CA 6 76378320 76378320 single base substitution T C intron_variant PACA-CA 6 76378928 76378928 single base substitution C T intron_variant PACA-CA 6 76380859 76380859 single base substitution G A intron_variant PACA-CA 6 76384821 76384821 single base substitution G A intron_variant PACA-CA 6 76384821 76384821 single base substitution G A upstream_gene_variant PACA-CA 6 76389083 76389083 single base substitution C A 3_prime_UTR_variant PACA-CA 6 76389083 76389083 single base substitution C A downstream_gene_variant PACA-CA 6 76389083 76389083 single base substitution C A intron_variant PACA-CA 6 76392485 76392485 single base substitution T C downstream_gene_variant PACA-CA 6 76392485 76392485 single base substitution T C intron_variant PACA-CA 6 76393099 76393099 single base substitution G A downstream_gene_variant PACA-CA 6 76393099 76393099 single base substitution G A intron_variant PACA-CA 6 76394154 76394154 single base substitution A C downstream_gene_variant PACA-CA 6 76394154 76394154 single base substitution A C intron_variant PACA-CA 6 76396979 76396979 single base substitution T G intron_variant PACA-CA 6 76398121 76398121 single base substitution T C intron_variant PACA-CA 6 76398278 76398278 single base substitution C T intron_variant PACA-CA 6 76401274 76401274 insertion of <=200bp - T intron_variant PACA-CA 6 76403185 76403185 single base substitution C G intron_variant PACA-CA 6 76403599 76403599 single base substitution C T intron_variant PACA-CA 6 76404051 76404051 single base substitution C G intron_variant PACA-CA 6 76406228 76406228 single base substitution C T intron_variant PACA-CA 6 76407808 76407808 single base substitution A G downstream_gene_variant PACA-CA 6 76407808 76407808 single base substitution A G intron_variant PACA-CA 6 76415278 76415278 single base substitution T A intron_variant PACA-CA 6 76415282 76415282 single base substitution T A intron_variant PACA-CA 6 76418730 76418730 single base substitution C T intron_variant PACA-CA 6 76422662 76422662 single base substitution A C intron_variant PACA-CA 6 76430611 76430611 single base substitution C T downstream_gene_variant PACA-CA 6 76431902 76431902 single base substitution G A downstream_gene_variant PAEN-AU 6 76306381 76306381 single base substitution G T upstream_gene_variant PAEN-AU 6 76418438 76418438 single base substitution C T intron_variant PAEN-AU 6 76420334 76420334 single base substitution G C intron_variant PAEN-IT 6 76318061 76318061 single base substitution C T intron_variant PAEN-IT 6 76323523 76323523 single base substitution T A intron_variant PAEN-IT 6 76404407 76404407 single base substitution G A intron_variant PBCA-DE 6 76317325 76317325 insertion of <=200bp - T intron_variant PBCA-DE 6 76333857 76333857 deletion of <=200bp G - intron_variant PBCA-DE 6 76336056 76336057 deletion of <=200bp TA - intron_variant PBCA-DE 6 76336628 76336628 insertion of <=200bp - T intron_variant PBCA-DE 6 76339704 76339704 single base substitution G A intron_variant PBCA-DE 6 76339704 76339704 single base substitution G A upstream_gene_variant PBCA-DE 6 76350201 76350201 single base substitution G A intron_variant PBCA-DE 6 76357900 76357900 deletion of <=200bp T - intron_variant PBCA-DE 6 76360701 76360701 single base substitution T A intron_variant PBCA-DE 6 76364726 76364726 single base substitution G A intron_variant PBCA-DE 6 76374413 76374413 single base substitution C T downstream_gene_variant PBCA-DE 6 76374413 76374413 single base substitution C T intron_variant PBCA-DE 6 76374413 76374413 single base substitution C T upstream_gene_variant PBCA-DE 6 76376994 76376994 single base substitution A T downstream_gene_variant PBCA-DE 6 76376994 76376994 single base substitution A T intron_variant PBCA-DE 6 76385330 76385330 single base substitution G C intron_variant PBCA-DE 6 76385330 76385330 single base substitution G C upstream_gene_variant PBCA-DE 6 76387126 76387126 deletion of <=200bp T - exon_variant PBCA-DE 6 76387126 76387126 deletion of <=200bp T - intron_variant PBCA-DE 6 76387126 76387126 deletion of <=200bp T - upstream_gene_variant PBCA-DE 6 76390713 76390713 single base substitution T C downstream_gene_variant PBCA-DE 6 76390713 76390713 single base substitution T C intron_variant PBCA-DE 6 76406829 76406829 single base substitution A G intron_variant PBCA-DE 6 76408727 76408727 deletion of <=200bp A - downstream_gene_variant PBCA-DE 6 76408727 76408727 deletion of <=200bp A - intron_variant PBCA-DE 6 76410503 76410503 single base substitution C T downstream_gene_variant PBCA-DE 6 76410503 76410503 single base substitution C T intron_variant PBCA-DE 6 76418329 76418329 single base substitution G A intron_variant PBCA-DE 6 76423257 76423257 single base substitution C T 3_prime_UTR_variant PBCA-DE 6 76423257 76423257 single base substitution C T stop_gained R973* 2917C>T PBCA-DE 6 76423257 76423257 single base substitution C T stop_gained R980* 2938C>T PBCA-DE 6 76430258 76430258 insertion of <=200bp - AAG downstream_gene_variant PBCA-DE 6 76430719 76430719 single base substitution T G downstream_gene_variant PRAD-CA 6 76334638 76334638 single base substitution C T intron_variant PRAD-CA 6 76352329 76352329 single base substitution C T intron_variant PRAD-CA 6 76352329 76352329 single base substitution C T upstream_gene_variant PRAD-CA 6 76368690 76368690 single base substitution C A intron_variant PRAD-CA 6 76393576 76393576 single base substitution G A downstream_gene_variant PRAD-CA 6 76393576 76393576 single base substitution G A intron_variant PRAD-CA 6 76415278 76415278 single base substitution T A intron_variant PRAD-UK 6 76308880 76308880 single base substitution C A upstream_gene_variant PRAD-UK 6 76311749 76311749 single base substitution G A 5_prime_UTR_variant PRAD-UK 6 76311749 76311749 single base substitution G A upstream_gene_variant PRAD-UK 6 76313397 76313397 single base substitution C G intron_variant PRAD-UK 6 76314969 76314969 single base substitution C T intron_variant PRAD-UK 6 76314999 76314999 single base substitution T G intron_variant PRAD-UK 6 76343355 76343355 single base substitution A G 3_prime_UTR_variant PRAD-UK 6 76343355 76343355 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant PRAD-UK 6 76343355 76343355 single base substitution A G missense_variant Y89C 266A>G PRAD-UK 6 76343355 76343355 single base substitution A G upstream_gene_variant PRAD-UK 6 76360826 76360826 single base substitution T G intron_variant PRAD-UK 6 76376904 76376904 single base substitution T G downstream_gene_variant PRAD-UK 6 76376904 76376904 single base substitution T G intron_variant PRAD-UK 6 76408289 76408289 single base substitution C T downstream_gene_variant PRAD-UK 6 76408289 76408289 single base substitution C T intron_variant PRAD-UK 6 76426464 76426464 single base substitution T C 3_prime_UTR_variant PRAD-UK 6 76426464 76426464 single base substitution T C downstream_gene_variant PRAD-US 6 76373050 76373050 single base substitution A G downstream_gene_variant PRAD-US 6 76373050 76373050 single base substitution A G exon_variant PRAD-US 6 76373050 76373050 single base substitution A G synonymous_variant L160L 480A>G PRAD-US 6 76373050 76373050 single base substitution A G synonymous_variant L263L 789A>G PRAD-US 6 76373050 76373050 single base substitution A G synonymous_variant L270L 810A>G PRAD-US 6 76373050 76373050 single base substitution A G upstream_gene_variant READ-US 6 76343322 76343322 single base substitution C A 3_prime_UTR_variant READ-US 6 76343322 76343322 single base substitution C A 5_prime_UTR_variant READ-US 6 76343322 76343322 single base substitution C A missense_variant A78D 233C>A READ-US 6 76343322 76343322 single base substitution C A upstream_gene_variant READ-US 6 76388350 76388350 single base substitution T G exon_variant READ-US 6 76388350 76388350 single base substitution T G missense_variant F230V 688T>G READ-US 6 76388350 76388350 single base substitution T G missense_variant F524V 1570T>G READ-US 6 76388350 76388350 single base substitution T G missense_variant F627V 1879T>G READ-US 6 76388350 76388350 single base substitution T G missense_variant F634V 1900T>G READ-US 6 76388350 76388350 single base substitution T G upstream_gene_variant READ-US 6 76421059 76421059 single base substitution G A 3_prime_UTR_variant READ-US 6 76421059 76421059 single base substitution G A missense_variant D939N 2815G>A READ-US 6 76421059 76421059 single base substitution G A missense_variant D946N 2836G>A RECA-EU 6 76307804 76307804 single base substitution C T upstream_gene_variant RECA-EU 6 76308780 76308780 single base substitution G C upstream_gene_variant RECA-EU 6 76310161 76310161 single base substitution G T upstream_gene_variant RECA-EU 6 76318982 76318982 single base substitution C A intron_variant RECA-EU 6 76326006 76326006 single base substitution C T intron_variant RECA-EU 6 76326006 76326006 single base substitution C T upstream_gene_variant RECA-EU 6 76328258 76328258 single base substitution T A intron_variant RECA-EU 6 76328258 76328258 single base substitution T A upstream_gene_variant RECA-EU 6 76329798 76329798 single base substitution C A intron_variant RECA-EU 6 76329798 76329798 single base substitution C A upstream_gene_variant RECA-EU 6 76338398 76338398 single base substitution A C intron_variant RECA-EU 6 76338398 76338398 single base substitution A C upstream_gene_variant RECA-EU 6 76339670 76339670 single base substitution T A intron_variant RECA-EU 6 76339670 76339670 single base substitution T A upstream_gene_variant RECA-EU 6 76344621 76344621 single base substitution T A downstream_gene_variant RECA-EU 6 76344621 76344621 single base substitution T A exon_variant RECA-EU 6 76344621 76344621 single base substitution T A intron_variant RECA-EU 6 76345478 76345478 single base substitution C T downstream_gene_variant RECA-EU 6 76345478 76345478 single base substitution C T intron_variant RECA-EU 6 76360680 76360680 single base substitution G C intron_variant RECA-EU 6 76364853 76364853 single base substitution A C intron_variant RECA-EU 6 76365177 76365177 single base substitution C A intron_variant RECA-EU 6 76367432 76367432 single base substitution A G intron_variant RECA-EU 6 76377441 76377441 single base substitution T G downstream_gene_variant RECA-EU 6 76377441 76377441 single base substitution T G intron_variant RECA-EU 6 76379507 76379507 single base substitution T C intron_variant RECA-EU 6 76380437 76380437 single base substitution G C splice_donor_variant RECA-EU 6 76380611 76380611 single base substitution G T intron_variant RECA-EU 6 76380696 76380696 single base substitution A G intron_variant RECA-EU 6 76390291 76390291 single base substitution A T downstream_gene_variant RECA-EU 6 76390291 76390291 single base substitution A T intron_variant RECA-EU 6 76394441 76394441 single base substitution G T downstream_gene_variant RECA-EU 6 76394441 76394441 single base substitution G T intron_variant RECA-EU 6 76400041 76400041 single base substitution G C intron_variant SKCA-BR 6 76306495 76306495 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 6 76309717 76309717 single base substitution T G upstream_gene_variant SKCA-BR 6 76310141 76310141 insertion of <=200bp - GT upstream_gene_variant SKCA-BR 6 76312331 76312331 single base substitution T G intron_variant SKCA-BR 6 76319746 76319746 single base substitution C T intron_variant SKCA-BR 6 76321991 76321991 single base substitution C T intron_variant SKCA-BR 6 76328734 76328734 insertion of <=200bp - CT intron_variant SKCA-BR 6 76328734 76328734 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 6 76334276 76334276 single base substitution C T intron_variant SKCA-BR 6 76334814 76334814 insertion of <=200bp - CGT intron_variant SKCA-BR 6 76336604 76336604 single base substitution T C intron_variant SKCA-BR 6 76341309 76341309 single base substitution A T intron_variant SKCA-BR 6 76341309 76341309 single base substitution A T upstream_gene_variant SKCA-BR 6 76347929 76347929 single base substitution T C downstream_gene_variant SKCA-BR 6 76347929 76347929 single base substitution T C intron_variant SKCA-BR 6 76349597 76349597 single base substitution C T downstream_gene_variant SKCA-BR 6 76349597 76349597 single base substitution C T intron_variant SKCA-BR 6 76354493 76354493 single base substitution G C intron_variant SKCA-BR 6 76354493 76354493 single base substitution G C upstream_gene_variant SKCA-BR 6 76356335 76356335 single base substitution G A exon_variant SKCA-BR 6 76356335 76356335 single base substitution G A intron_variant SKCA-BR 6 76356335 76356335 single base substitution G A upstream_gene_variant SKCA-BR 6 76362426 76362426 single base substitution G A intron_variant SKCA-BR 6 76364283 76364283 single base substitution T C intron_variant SKCA-BR 6 76367224 76367224 single base substitution C T intron_variant SKCA-BR 6 76368690 76368690 single base substitution C A intron_variant SKCA-BR 6 76368716 76368717 deletion of <=200bp AG - intron_variant SKCA-BR 6 76371769 76371769 insertion of <=200bp - AAAAT intron_variant SKCA-BR 6 76371769 76371769 insertion of <=200bp - AAAAT upstream_gene_variant SKCA-BR 6 76371835 76371835 single base substitution A T intron_variant SKCA-BR 6 76371835 76371835 single base substitution A T upstream_gene_variant SKCA-BR 6 76372868 76372868 single base substitution T G intron_variant SKCA-BR 6 76372868 76372868 single base substitution T G upstream_gene_variant SKCA-BR 6 76372880 76372880 single base substitution G A intron_variant SKCA-BR 6 76372880 76372880 single base substitution G A upstream_gene_variant SKCA-BR 6 76375001 76375002 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 6 76375001 76375002 deletion of <=200bp CA - intron_variant SKCA-BR 6 76375001 76375002 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 6 76377226 76377226 single base substitution C A downstream_gene_variant SKCA-BR 6 76377226 76377226 single base substitution C A intron_variant SKCA-BR 6 76383884 76383884 single base substitution T A intron_variant SKCA-BR 6 76383884 76383884 single base substitution T A upstream_gene_variant SKCA-BR 6 76383885 76383885 single base substitution T A intron_variant SKCA-BR 6 76383885 76383885 single base substitution T A upstream_gene_variant SKCA-BR 6 76387341 76387341 single base substitution C T exon_variant SKCA-BR 6 76387341 76387341 single base substitution C T intron_variant SKCA-BR 6 76387341 76387341 single base substitution C T upstream_gene_variant SKCA-BR 6 76388240 76388240 single base substitution C T exon_variant SKCA-BR 6 76388240 76388240 single base substitution C T intron_variant SKCA-BR 6 76388240 76388240 single base substitution C T upstream_gene_variant SKCA-BR 6 76391660 76391660 single base substitution C G downstream_gene_variant SKCA-BR 6 76391660 76391660 single base substitution C G intron_variant SKCA-BR 6 76391661 76391661 single base substitution T A downstream_gene_variant SKCA-BR 6 76391661 76391661 single base substitution T A intron_variant SKCA-BR 6 76392680 76392680 single base substitution C T downstream_gene_variant SKCA-BR 6 76392680 76392680 single base substitution C T intron_variant SKCA-BR 6 76393634 76393634 single base substitution T A downstream_gene_variant SKCA-BR 6 76393634 76393634 single base substitution T A intron_variant SKCA-BR 6 76394077 76394077 single base substitution C T downstream_gene_variant SKCA-BR 6 76394077 76394077 single base substitution C T intron_variant SKCA-BR 6 76394832 76394832 single base substitution T C intron_variant SKCA-BR 6 76395388 76395388 single base substitution C T intron_variant SKCA-BR 6 76399346 76399346 single base substitution C T intron_variant SKCA-BR 6 76403125 76403125 insertion of <=200bp - TAA intron_variant SKCA-BR 6 76405276 76405276 single base substitution A G intron_variant SKCA-BR 6 76407915 76407915 single base substitution G A downstream_gene_variant SKCA-BR 6 76407915 76407915 single base substitution G A intron_variant SKCA-BR 6 76408245 76408245 single base substitution C T downstream_gene_variant SKCA-BR 6 76408245 76408245 single base substitution C T intron_variant SKCA-BR 6 76408366 76408366 single base substitution A G downstream_gene_variant SKCA-BR 6 76408366 76408366 single base substitution A G intron_variant SKCA-BR 6 76408765 76408765 single base substitution G A downstream_gene_variant SKCA-BR 6 76408765 76408765 single base substitution G A intron_variant SKCA-BR 6 76410077 76410077 single base substitution C T downstream_gene_variant SKCA-BR 6 76410077 76410077 single base substitution C T intron_variant SKCA-BR 6 76415098 76415098 single base substitution T A intron_variant SKCA-BR 6 76415641 76415641 single base substitution C T intron_variant SKCA-BR 6 76421243 76421243 single base substitution T G intron_variant SKCA-BR 6 76421480 76421480 single base substitution C T intron_variant SKCM-US 6 76350409 76350409 single base substitution C T intron_variant SKCM-US 6 76350409 76350409 single base substitution C T synonymous_variant D156D 468C>T SKCM-US 6 76350409 76350409 single base substitution C T synonymous_variant D46D 138C>T SKCM-US 6 76369081 76369081 single base substitution T A exon_variant SKCM-US 6 76369081 76369081 single base substitution T A synonymous_variant P108P 324T>A SKCM-US 6 76369081 76369081 single base substitution T A synonymous_variant P211P 633T>A SKCM-US 6 76369081 76369081 single base substitution T A synonymous_variant P218P 654T>A SKCM-US 6 76376441 76376443 deletion of <=200bp TGA - downstream_gene_variant SKCM-US 6 76376441 76376443 deletion of <=200bp TGA - inframe_deletion SD226S SKCM-US 6 76376441 76376443 deletion of <=200bp TGA - inframe_deletion SD329S SKCM-US 6 76376441 76376443 deletion of <=200bp TGA - inframe_deletion SD336S SKCM-US 6 76376441 76376443 deletion of <=200bp TGA - upstream_gene_variant SKCM-US 6 76386794 76386794 single base substitution C T exon_variant SKCM-US 6 76386794 76386794 single base substitution C T missense_variant P153L 458C>T SKCM-US 6 76386794 76386794 single base substitution C T missense_variant P447L 1340C>T SKCM-US 6 76386794 76386794 single base substitution C T missense_variant P550L 1649C>T SKCM-US 6 76386794 76386794 single base substitution C T missense_variant P557L 1670C>T SKCM-US 6 76386794 76386794 single base substitution C T upstream_gene_variant SKCM-US 6 76386875 76386875 single base substitution C T exon_variant SKCM-US 6 76386875 76386875 single base substitution C T missense_variant P180L 539C>T SKCM-US 6 76386875 76386875 single base substitution C T missense_variant P474L 1421C>T SKCM-US 6 76386875 76386875 single base substitution C T missense_variant P577L 1730C>T SKCM-US 6 76386875 76386875 single base substitution C T missense_variant P584L 1751C>T SKCM-US 6 76386875 76386875 single base substitution C T upstream_gene_variant SKCM-US 6 76407209 76407209 single base substitution T C exon_variant SKCM-US 6 76407209 76407209 single base substitution T C missense_variant F351S 1052T>C SKCM-US 6 76407209 76407209 single base substitution T C missense_variant F748S 2243T>C SKCM-US 6 76407209 76407209 single base substitution T C missense_variant F755S 2264T>C SKCM-US 6 76412391 76412391 single base substitution C T downstream_gene_variant SKCM-US 6 76412391 76412391 single base substitution C T intron_variant SKCM-US 6 76412391 76412391 single base substitution C T synonymous_variant F766F 2298C>T SKCM-US 6 76412391 76412391 single base substitution C T synonymous_variant F773F 2319C>T SKCM-US 6 76412655 76412655 single base substitution G A downstream_gene_variant SKCM-US 6 76412655 76412655 single base substitution G A intron_variant SKCM-US 6 76412655 76412655 single base substitution G A synonymous_variant V854V 2562G>A SKCM-US 6 76412655 76412655 single base substitution G A synonymous_variant V861V 2583G>A SKCM-US 6 76419325 76419325 single base substitution C T 3_prime_UTR_variant SKCM-US 6 76419325 76419325 single base substitution C T synonymous_variant F926F 2778C>T SKCM-US 6 76419325 76419325 single base substitution C T synonymous_variant F933F 2799C>T STAD-US 6 76369099 76369099 deletion of <=200bp A - exon_variant STAD-US 6 76369099 76369099 deletion of <=200bp A - frameshift_variant S114 STAD-US 6 76369099 76369099 deletion of <=200bp A - frameshift_variant S217 STAD-US 6 76369099 76369099 deletion of <=200bp A - frameshift_variant S224 STAD-US 6 76369099 76369099 insertion of <=200bp - A exon_variant STAD-US 6 76369099 76369099 insertion of <=200bp - A frameshift_variant S114S? STAD-US 6 76369099 76369099 insertion of <=200bp - A frameshift_variant S217S? STAD-US 6 76369099 76369099 insertion of <=200bp - A frameshift_variant S224S? STAD-US 6 76405543 76405543 single base substitution A G exon_variant STAD-US 6 76405543 76405543 single base substitution A G missense_variant K296R 887A>G STAD-US 6 76405543 76405543 single base substitution A G missense_variant K693R 2078A>G STAD-US 6 76405543 76405543 single base substitution A G missense_variant K700R 2099A>G STAD-US 6 76412460 76412460 single base substitution T C downstream_gene_variant STAD-US 6 76412460 76412460 single base substitution T C intron_variant STAD-US 6 76412460 76412460 single base substitution T C synonymous_variant C789C 2367T>C STAD-US 6 76412460 76412460 single base substitution T C synonymous_variant C796C 2388T>C STAD-US 6 76412665 76412665 single base substitution A C downstream_gene_variant STAD-US 6 76412665 76412665 single base substitution A C intron_variant STAD-US 6 76412665 76412665 single base substitution A C missense_variant N858H 2572A>C STAD-US 6 76412665 76412665 single base substitution A C missense_variant N865H 2593A>C STAD-US 6 76425169 76425169 deletion of <=200bp A - 3_prime_UTR_variant STAD-US 6 76425169 76425169 deletion of <=200bp A - frameshift_variant T1059 STAD-US 6 76425169 76425169 deletion of <=200bp A - frameshift_variant T1066 STAD-US 6 76425219 76425219 single base substitution G T 3_prime_UTR_variant STAD-US 6 76425219 76425219 single base substitution G T missense_variant S1076I 3227G>T STAD-US 6 76425219 76425219 single base substitution G T missense_variant S1083I 3248G>T THCA-SA 6 76311718 76311718 single base substitution C T 5_prime_UTR_variant THCA-SA 6 76311718 76311718 single base substitution C T upstream_gene_variant THCA-US 6 76385768 76385768 single base substitution C G missense_variant T136R 407C>G THCA-US 6 76385768 76385768 single base substitution C G missense_variant T430R 1289C>G THCA-US 6 76385768 76385768 single base substitution C G missense_variant T533R 1598C>G THCA-US 6 76385768 76385768 single base substitution C G missense_variant T540R 1619C>G THCA-US 6 76385768 76385768 single base substitution C G splice_region_variant THCA-US 6 76385768 76385768 single base substitution C G upstream_gene_variant UCEC-US 6 76312252 76312252 single base substitution C G exon_variant UCEC-US 6 76312252 76312252 single base substitution C G synonymous_variant G4G 12C>G UCEC-US 6 76343307 76343307 single base substitution G A 3_prime_UTR_variant UCEC-US 6 76343307 76343307 single base substitution G A 5_prime_UTR_variant UCEC-US 6 76343307 76343307 single base substitution G A missense_variant R73Q 218G>A UCEC-US 6 76343307 76343307 single base substitution G A upstream_gene_variant UCEC-US 6 76343433 76343433 single base substitution A C 3_prime_UTR_variant UCEC-US 6 76343433 76343433 single base substitution A C exon_variant UCEC-US 6 76343433 76343433 single base substitution A C missense_variant K115T 344A>C UCEC-US 6 76343433 76343433 single base substitution A C missense_variant K5T 14A>C UCEC-US 6 76343433 76343433 single base substitution A C missense_variant K6T 17A>C UCEC-US 6 76344476 76344476 single base substitution G A 3_prime_UTR_variant UCEC-US 6 76344476 76344476 single base substitution G A exon_variant UCEC-US 6 76344476 76344476 single base substitution G A missense_variant R136H 407G>A UCEC-US 6 76344476 76344476 single base substitution G A missense_variant R26H 77G>A UCEC-US 6 76344476 76344476 single base substitution G A missense_variant R27H 80G>A UCEC-US 6 76344716 76344716 insertion of <=200bp - G downstream_gene_variant UCEC-US 6 76344716 76344716 insertion of <=200bp - G exon_variant UCEC-US 6 76344716 76344716 insertion of <=200bp - G frameshift_variant L160R? UCEC-US 6 76344716 76344716 insertion of <=200bp - G intron_variant UCEC-US 6 76357511 76357511 single base substitution G A exon_variant UCEC-US 6 76357511 76357511 single base substitution G A missense_variant G175S 523G>A UCEC-US 6 76357511 76357511 single base substitution G A missense_variant G182S 544G>A UCEC-US 6 76357511 76357511 single base substitution G A missense_variant G72S 214G>A UCEC-US 6 76372947 76372947 single base substitution G T exon_variant UCEC-US 6 76372947 76372947 single base substitution G T missense_variant R126I 377G>T UCEC-US 6 76372947 76372947 single base substitution G T missense_variant R229I 686G>T UCEC-US 6 76372947 76372947 single base substitution G T missense_variant R236I 707G>T UCEC-US 6 76372947 76372947 single base substitution G T upstream_gene_variant UCEC-US 6 76373065 76373065 single base substitution T G downstream_gene_variant UCEC-US 6 76373065 76373065 single base substitution T G exon_variant UCEC-US 6 76373065 76373065 single base substitution T G missense_variant F165L 495T>G UCEC-US 6 76373065 76373065 single base substitution T G missense_variant F268L 804T>G UCEC-US 6 76373065 76373065 single base substitution T G missense_variant F275L 825T>G UCEC-US 6 76373065 76373065 single base substitution T G upstream_gene_variant UCEC-US 6 76405553 76405553 single base substitution C T exon_variant UCEC-US 6 76405553 76405553 single base substitution C T synonymous_variant D299D 897C>T UCEC-US 6 76405553 76405553 single base substitution C T synonymous_variant D696D 2088C>T UCEC-US 6 76405553 76405553 single base substitution C T synonymous_variant D703D 2109C>T UCEC-US 6 76407233 76407233 single base substitution C T exon_variant UCEC-US 6 76407233 76407233 single base substitution C T missense_variant A359V 1076C>T UCEC-US 6 76407233 76407233 single base substitution C T missense_variant A756V 2267C>T UCEC-US 6 76407233 76407233 single base substitution C T missense_variant A763V 2288C>T UCEC-US 6 76407233 76407233 single base substitution C T splice_region_variant UCEC-US 6 76419278 76419278 single base substitution G T 3_prime_UTR_variant UCEC-US 6 76419278 76419278 single base substitution G T stop_gained E911* 2731G>T UCEC-US 6 76419278 76419278 single base substitution G T stop_gained E918* 2752G>T UCEC-US 6 76419319 76419319 single base substitution C T 3_prime_UTR_variant UCEC-US 6 76419319 76419319 single base substitution C T synonymous_variant V924V 2772C>T UCEC-US 6 76419319 76419319 single base substitution C T synonymous_variant V931V 2793C>T UCEC-US 6 76423432 76423432 single base substitution G T 3_prime_UTR_variant UCEC-US 6 76423432 76423432 single base substitution G T missense_variant R1000I 2999G>T UCEC-US 6 76423432 76423432 single base substitution G T missense_variant R1007I 3020G>T UCEC-US 6 76425197 76425197 single base substitution C A 3_prime_UTR_variant UCEC-US 6 76425197 76425197 single base substitution C A missense_variant L1069M 3205C>A UCEC-US 6 76425197 76425197 single base substitution C A missense_variant L1076M 3226C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PA122 COSM1162511 c.1874T>C p.L625P Substitution - Missense 6:75678608-75678608 + 33 COSM4170012 c.1569G>T p.M523I Substitution - Missense 6:75676002-75676002 + IGROV-1 COSM1672573 c.3089G>A p.C1030Y Substitution - Missense 6:75713785-75713785 + SNU-175 COSM1081763 c.2109C>T p.D703D Substitution - coding silent 6:75695837-75695837 + Pat_41_B COSM3831076 c.3139C>T p.L1047F Substitution - Missense 6:75715394-75715394 + TCGA-BH-A0B6-01 COSM3831075 c.1543C>G p.Q515E Substitution - Missense 6:75675976-75675976 + TCGA-BC-A112-01 COSM3175627 c.1751C>G p.P584R Substitution - Missense 6:75677159-75677159 + TCGA-FV-A23B-01 COSM4914076 c.1040G>T p.R347I Substitution - Missense 6:75666757-75666757 + TCGA-DS-A1OD-01 COSM1294339 c.1784G>C p.C595S Substitution - Missense 6:75677192-75677192 + TCGA-B5-A0JY-01 COSM1081751 c.218G>A p.R73Q Substitution - Missense 6:75633591-75633591 + PD13627a COSM5776877 c.1498C>G p.R500G Substitution - Missense 6:75675931-75675931 + T3064 COSM4724856 c.551-2A>C p.? Unknown 6:75659260-75659260 + 587278 COSM1181024 c.146+8delT p.? Unknown 6:75621633-75621633 + TCGA-CG-4462-01 COSM3875582 c.2388T>C p.C796C Substitution - coding silent 6:75702744-75702744 + TCGA-AZ-6598-01 COSM1446009 c.3004delA p.G1004fs*11 Deletion - Frameshift 6:75713700-75713700 + LC_C8 COSM1187090 c.3289G>T p.A1097S Substitution - Missense 6:75715544-75715544 + TCGA-AP-A0LM-01 COSM1081765 c.2288C>T p.A763V Substitution - Missense 6:75697517-75697517 + TCGA-BI-A0VS-01 COSM1294341 c.1820G>A p.C607Y Substitution - Missense 6:75677228-75677228 + 36 COSM5733506 c.518A>T p.N173I Substitution - Missense 6:75647769-75647769 + ESCC-018T COSM3941839 c.2242G>A p.V748I Substitution - Missense 6:75697471-75697471 + 2497775 COSM5750573 c.2644C>A p.Q882K Substitution - Missense 6:75703000-75703000 + PD6747a COSM1637568 c.2121T>C p.I707I Substitution - coding silent 6:75695849-75695849 + 169 COSM1446009 c.3004delA p.G1004fs*11 Deletion - Frameshift 6:75713700-75713700 + CLL137 COSM1292369 c.2604G>A p.A868A Substitution - coding silent 6:75702960-75702960 + TCGA-B0-4852-01 COSM484365 c.507A>C p.K169N Substitution - Missense 6:75647758-75647758 + TCGA-D8-A13Z-01 COSM451812 c.1329C>A p.V443V Substitution - coding silent 6:75670657-75670657 + pfg019T COSM1181025 c.146+8delT p.? Unknown 6:75621633-75621633 + TCGA-DM-A1HB-01 COSM5169390 c.2079C>A p.Y693* Substitution - Nonsense 6:75695807-75695807 + LC_C6 COSM1187088 c.2392A>G p.T798A Substitution - Missense 6:75702748-75702748 + TCGA-NH-A8F7-01 COSM5185403 c.2288+1G>A p.? Unknown 6:75697518-75697518 + TCGA-FV-A23B-01 COSM4914078 c.1040G>T p.R347I Substitution - Missense 6:75666757-75666757 + J87_T COSM3949478 c.798A>G p.Q266Q Substitution - coding silent 6:75663322-75663322 + TCGA-CG-5723-01 COSM3875588 c.3248G>T p.S1083I Substitution - Missense 6:75715503-75715503 + HCC159 COSM3662722 c.2744A>G p.Y915C Substitution - Missense 6:75709554-75709554 + TCGA-AP-A059-01 COSM1081749 c.12C>G p.G4G Substitution - coding silent 6:75602536-75602536 + TCGA-G4-6302-01 COSM1445997 c.1734delT p.F580fs*72 Deletion - Frameshift 6:75677142-75677142 + T2944 COSM4724862 c.1095A>G p.P365P Substitution - coding silent 6:75666812-75666812 + TCGA-AP-A056-01 COSM1596509 c.825T>G p.F275L Substitution - Missense 6:75663349-75663349 + ESCC-018T COSM3941837 c.2242G>A p.V748I Substitution - Missense 6:75697471-75697471 + TCGA-AK-3427-01 COSM1496427 c.1225-2A>T p.? Unknown 6:75670551-75670551 + TCGA-BS-A0UF-01 COSM1081767 c.2752G>T p.E918* Substitution - Nonsense 6:75709562-75709562 + pfg019T COSM1643142 c.1104delA p.V370fs*1 Deletion - Frameshift 6:75666821-75666821 + pfg019T COSM1181024 c.146+8delT p.? Unknown 6:75621633-75621633 + T3064 COSM4724855 c.551-2A>C p.? Unknown 6:75659260-75659260 + TCGA-ER-A19W-06 COSM4398644 c.1670C>T p.P557L Substitution - Missense 6:75677078-75677078 + HCC159T COSM3662722 c.2744A>G p.Y915C Substitution - Missense 6:75709554-75709554 + HDC87 COSM4637156 c.967A>C p.T323P Substitution - Missense 6:75663491-75663491 + SNU-175 COSM1154706 c.2109C>T p.D703D Substitution - coding silent 6:75695837-75695837 + ESCC-153T COSM3941843 c.3192G>A p.M1064I Substitution - Missense 6:75715447-75715447 + TCGA-DS-A0VM-01 COSM1134594 c.1276C>G p.Q426E Substitution - Missense 6:75670604-75670604 + T2944 COSM4724861 c.1095A>G p.P365P Substitution - coding silent 6:75666812-75666812 + TCGA-CG-5723-01 COSM3875590 c.3248G>T p.S1083I Substitution - Missense 6:75715503-75715503 + 79 COSM5016145 c.274delC p.R92fs*10 Deletion - Frameshift 6:75633647-75633647 + TCGA-CK-6746-01 COSM1446009 c.3004delA p.G1004fs*11 Deletion - Frameshift 6:75713700-75713700 + TCGA-AP-A059-01 COSM1596515 c.12C>G p.G4G Substitution - coding silent 6:75602536-75602536 + 33 COSM4170011 c.1569G>T p.M523I Substitution - Missense 6:75676002-75676002 + TCGA-A6-6781-01 COSM1445997 c.1734delT p.F580fs*72 Deletion - Frameshift 6:75677142-75677142 + C086 COSM5538763 c.2195C>T p.S732L Substitution - Missense 6:75695923-75695923 + TCGA-F5-6814-01 COSM3430886 c.233C>A p.A78D Substitution - Missense 6:75633606-75633606 + S00022 COSM315075 c.257T>A p.L86* Substitution - Nonsense 6:75633630-75633630 + TCGA-QU-A6IO-01 COSM4876594 c.810A>G p.L270L Substitution - coding silent 6:75663334-75663334 + C086 COSM5538764 c.2195C>T p.S732L Substitution - Missense 6:75695923-75695923 + 2492703 COSM5715871 c.1654C>T p.Q552* Substitution - Nonsense 6:75677062-75677062 + HCC1954 COSM25358 c.2076-1G>A p.? Unknown 6:75695803-75695803 + 09-12737 COSM220545 c.2691A>C p.E897D Substitution - Missense 6:75703047-75703047 + TCGA-AD-6895-01 COSM1445985 c.639C>A p.T213T Substitution - coding silent 6:75659350-75659350 + 587350 COSM1225214 c.2209C>T p.R737W Substitution - Missense 6:75697438-75697438 + CHEWS019 COSM4586933 c.874G>A p.D292N Substitution - Missense 6:75663398-75663398 + TCGA-A6-5665-01 COSM1446009 c.3004delA p.G1004fs*11 Deletion - Frameshift 6:75713700-75713700 + TCGA-B0-5081-01 COSM3366602 c.588A>T p.Q196H Substitution - Missense 6:75659299-75659299 + pfg019T COSM1643141 c.1104delA p.V370fs*1 Deletion - Frameshift 6:75666821-75666821 + HCC063T COSM5812871 c.2910-2A>T p.? Unknown 6:75713511-75713511 + TCGA-66-2759-01 COSM1150498 c.1941C>T p.F647F Substitution - coding silent 6:75678675-75678675 + TCGA-AC-A2B8-01 COSM3831072 c.1316C>T p.S439F Substitution - Missense 6:75670644-75670644 + 084T COSM1731128 c.2475G>T p.K825N Substitution - Missense 6:75702831-75702831 + TCGA-66-2744-01 COSM743097 c.172G>A p.E58K Substitution - Missense 6:75623925-75623925 + PD6365a COSM1637276 c.2750A>G p.D917G Substitution - Missense 6:75709560-75709560 + TCGA-EB-A3Y7-01 COSM3629996 c.2799C>T p.F933F Substitution - coding silent 6:75709609-75709609 + TCGA-FW-A3R5-06 COSM3922184 c.1751C>T p.P584L Substitution - Missense 6:75677159-75677159 + N-Thy004 COSM5094884 c.3036T>A p.D1012E Substitution - Missense 6:75713732-75713732 + TCGA-A2-A0YH-01 COSM451813 c.1471C>G p.L491V Substitution - Missense 6:75675904-75675904 + C086 COSM5538757 c.3182C>T p.P1061L Substitution - Missense 6:75715437-75715437 + PA122 COSM1162512 c.1874T>C p.L625P Substitution - Missense 6:75678608-75678608 + TCGA-AD-6889-01 COSM1445992 c.1182A>G p.L394L Substitution - coding silent 6:75666899-75666899 + TCGA-EI-6917-01 COSM3430893 c.2836G>A p.D946N Substitution - Missense 6:75711343-75711343 + TCGA-EI-6917-01 COSM3430892 c.2836G>A p.D946N Substitution - Missense 6:75711343-75711343 + TCGA-DS-A0VM-01 COSM461738 c.1276C>G p.Q426E Substitution - Missense 6:75670604-75670604 + DN1107E COSM5782393 c.1267G>A p.V423M Substitution - Missense 6:75670595-75670595 + EW8 COSM3175630 c.1757A>G p.E586G Substitution - Missense 6:75677165-75677165 + PD6747a COSM1637569 c.2121T>C p.I707I Substitution - coding silent 6:75695849-75695849 + TCGA-AG-A002-01 COSM263574 c.1045G>T p.E349* Substitution - Nonsense 6:75666762-75666762 + CSCC-44-T COSM4449723 c.3130-1G>C p.? Unknown 6:75715384-75715384 + 36 COSM5733507 c.518A>T p.N173I Substitution - Missense 6:75647769-75647769 + TCGA-CA-6717-01 COSM1446005 c.2545C>A p.R849S Substitution - Missense 6:75702901-75702901 + T3021 COSM1446009 c.3004delA p.G1004fs*11 Deletion - Frameshift 6:75713700-75713700 + SNU-C4 COSM4654140 c.1761A>T p.E587D Substitution - Missense 6:75677169-75677169 + LB831-BLC COSM24377 c.841G>A p.E281K Substitution - Missense 6:75663365-75663365 + PD6365a COSM1637275 c.2750A>G p.D917G Substitution - Missense 6:75709560-75709560 + T3021 COSM1446008 c.3004delA p.G1004fs*11 Deletion - Frameshift 6:75713700-75713700 + T578 COSM4724864 c.1853C>A p.S618* Substitution - Nonsense 6:75678587-75678587 + C086 COSM5538761 c.2596C>T p.H866Y Substitution - Missense 6:75702952-75702952 + TCGA-AC-A2B8-01 COSM3831070 c.1316C>T p.S439F Substitution - Missense 6:75670644-75670644 + pfg019T COSM1643145 c.3128A>C p.E1043A Substitution - Missense 6:75713824-75713824 + CLL080 COSM1292367 c.2266A>G p.I756V Substitution - Missense 6:75697495-75697495 + TCGA-B5-A0JY-01 COSM1445984 c.218G>A p.R73Q Substitution - Missense 6:75633591-75633591 + TCGA-AK-3465-01 COSM1496427 c.1225-2A>T p.? Unknown 6:75670551-75670551 + LC_C6 COSM1187087 c.2392A>G p.T798A Substitution - Missense 6:75702748-75702748 + TGH COSM1582698 c.2791G>A p.V931I Substitution - Missense 6:75709601-75709601 + TCGA-BS-A0UF-01 COSM1596507 c.2752G>T p.E918* Substitution - Nonsense 6:75709562-75709562 + 3N44-VS-3T44 COSM4982308 c.1968A>G p.V656V Substitution - coding silent 6:75678820-75678820 + ORL-48 COSM4596430 c.122A>G p.E41G Substitution - Missense 6:75621601-75621601 + Patient_1 COSM5413884 c.1365C>A p.L455L Substitution - coding silent 6:75670693-75670693 + TCGA-FW-A3R5-06 COSM3922186 c.1751C>T p.P584L Substitution - Missense 6:75677159-75677159 + HDC87 COSM4637155 c.967A>C p.T323P Substitution - Missense 6:75663491-75663491 + HCC062T COSM5820797 c.693A>T p.L231F Substitution - Missense 6:75659404-75659404 + 2492701 COSM5715870 c.1654C>T p.Q552* Substitution - Nonsense 6:75677062-75677062 + S01529 COSM4387336 c.2814T>C p.D938D Substitution - coding silent 6:75709624-75709624 + 1604875 COSM141169 c.2533G>T p.E845* Substitution - Nonsense 6:75702889-75702889 + T2269 COSM4724868 c.2313T>C p.V771V Substitution - coding silent 6:75702669-75702669 + PT37 COSM5919118 c.2910-8C>T p.? Unknown 6:75713505-75713505 + TCGA-AX-A05Z-01 COSM1596513 c.407G>A p.R136H Substitution - Missense 6:75634760-75634760 + YUMEZ COSM3175658 c.2684A>G p.Q895R Substitution - Missense 6:75703040-75703040 + TCGA-EB-A3Y7-01 COSM3629995 c.2799C>T p.F933F Substitution - coding silent 6:75709609-75709609 + TCGA-E2-A1LL-01 COSM5229552 c.3144delT p.F1049fs*5 Deletion - Frameshift 6:75715399-75715399 + LUAD-S01315 COSM345859 c.1126G>C p.E376Q Substitution - Missense 6:75666843-75666843 + HCT8 COSM4635432 c.568A>G p.T190A Substitution - Missense 6:75659279-75659279 + HCT116 COSM1446008 c.3004delA p.G1004fs*11 Deletion - Frameshift 6:75713700-75713700 + TCGA-D9-A1JW-06 COSM3922189 c.2319C>T p.F773F Substitution - coding silent 6:75702675-75702675 + TCGA-A4-7585-01 COSM3995122 c.2371G>A p.A791T Substitution - Missense 6:75702727-75702727 + TCGA-D8-A13Z-01 COSM1487932 c.1329C>A p.V443V Substitution - coding silent 6:75670657-75670657 + ESCC-214T COSM3941842 c.2876G>A p.G959E Substitution - Missense 6:75711383-75711383 + TCGA-DK-A3X1-01 COSM3777860 c.2617G>C p.E873Q Substitution - Missense 6:75702973-75702973 + TCGA-A6-5665-01 COSM1446008 c.3004delA p.G1004fs*11 Deletion - Frameshift 6:75713700-75713700 + TCGA-A3-3387-01 COSM1137571 c.132A>G p.G44G Substitution - coding silent 6:75621611-75621611 + HCT8 COSM4635431 c.568A>G p.T190A Substitution - Missense 6:75659279-75659279 + HCC062T COSM5820798 c.693A>T p.L231F Substitution - Missense 6:75659404-75659404 + TCGA-A3-3387-01 COSM484364 c.132A>G p.G44G Substitution - coding silent 6:75621611-75621611 + TCGA-AN-A046-01 COSM3831078 c.3139C>T p.L1047F Substitution - Missense 6:75715394-75715394 + B111-Tumor COSM1754929 c.1796A>G p.Y599C Substitution - Missense 6:75677204-75677204 + CHC892T COSM4798398 c.702G>A p.L234L Substitution - coding silent 6:75663226-75663226 + TCGA-ER-A19W-06 COSM4398645 c.1670C>T p.P557L Substitution - Missense 6:75677078-75677078 + T578 COSM4724865 c.1853C>A p.S618* Substitution - Nonsense 6:75678587-75678587 + T2932 COSM4724871 c.3051T>G p.S1017S Substitution - coding silent 6:75713747-75713747 + TCGA-AA-A00N-01 COSM277212 c.2135C>A p.S712Y Substitution - Missense 6:75695863-75695863 + TCGA-DK-A1AC-01 COSM1312394 c.3281C>G p.S1094* Substitution - Nonsense 6:75715536-75715536 + TCGA-BS-A0UF-01 COSM1596505 c.3020G>T p.R1007I Substitution - Missense 6:75713716-75713716 + TCGA-AD-6895-01 COSM1445986 c.639C>A p.T213T Substitution - coding silent 6:75659350-75659350 + PT33 COSM5908677 c.996C>T p.I332I Substitution - coding silent 6:75666713-75666713 + TCGA-G5-6641-01 COSM5080960 c.2159_2160delAG p.R723fs*4 Deletion - Frameshift 6:75695887-75695888 + 92 COSM5014619 c.2927T>C p.M976T Substitution - Missense 6:75713530-75713530 + TCGA-DK-A3X1-01 COSM3777858 c.2617G>C p.E873Q Substitution - Missense 6:75702973-75702973 + PASLZM COSM5006462 c.1032A>G p.R344R Substitution - coding silent 6:75666749-75666749 + EGC3 COSM5061948 c.671_672insA p.C227fs*20 Insertion - Frameshift 6:75659382-75659383 + TCGA-D9-A1JW-06 COSM3922187 c.2319C>T p.F773F Substitution - coding silent 6:75702675-75702675 + 100701 COSM95239 c.1508C>T p.P503L Substitution - Missense 6:75675941-75675941 + 2492700 COSM5715870 c.1654C>T p.Q552* Substitution - Nonsense 6:75677062-75677062 + TCGA-AX-A05Z-01 COSM1081755 c.407G>A p.R136H Substitution - Missense 6:75634760-75634760 + TCGA-AP-A056-01 COSM1081761 c.825T>G p.F275L Substitution - Missense 6:75663349-75663349 + C086 COSM5538754 c.2038G>A p.E680K Substitution - Missense 6:75678890-75678890 + S37_post COSM4654137 c.626G>A p.R209Q Substitution - Missense 6:75659337-75659337 + Au4 COSM5604826 c.2545C>T p.R849C Substitution - Missense 6:75702901-75702901 + T3090 COSM4724858 c.1026C>T p.N342N Substitution - coding silent 6:75666743-75666743 + TCGA-AK-3427-01 COSM1496426 c.1225-2A>T p.? Unknown 6:75670551-75670551 + B111-Tumor COSM1754930 c.1796A>G p.Y599C Substitution - Missense 6:75677204-75677204 + ESCC_BICR_041T COSM5441403 c.697G>T p.D233Y Substitution - Missense 6:75663221-75663221 + TCGA-AD-6889-01 COSM1445993 c.1182A>G p.L394L Substitution - coding silent 6:75666899-75666899 + C0063T COSM4155293 c.1392+1G>C p.? Unknown 6:75670721-75670721 + 2492700 COSM5715871 c.1654C>T p.Q552* Substitution - Nonsense 6:75677062-75677062 + TCGA-AP-A0LM-01 COSM1596511 c.544G>A p.G182S Substitution - Missense 6:75647795-75647795 + 169 COSM1446008 c.3004delA p.G1004fs*11 Deletion - Frameshift 6:75713700-75713700 + B111 COSM1754929 c.1796A>G p.Y599C Substitution - Missense 6:75677204-75677204 + TCGA-F5-6814-01 COSM3430887 c.233C>A p.A78D Substitution - Missense 6:75633606-75633606 + SNU-C4 COSM4654138 c.626G>A p.R209Q Substitution - Missense 6:75659337-75659337 + HCC082T COSM5816323 c.551-3T>C p.? Unknown 6:75659259-75659259 + ESO-837 COSM1265256 c.521C>A p.P174H Substitution - Missense 6:75647772-75647772 + 107049 COSM95240 c.2002G>A p.V668I Substitution - Missense 6:75678854-75678854 + TCGA-AA-3663-01 COSM1446007 c.2562A>G p.I854M Substitution - Missense 6:75702918-75702918 + TCGA-HU-A4GU-01 COSM3875587 c.2593A>C p.N865H Substitution - Missense 6:75702949-75702949 + PT49 COSM5935184 c.509T>C p.V170A Substitution - Missense 6:75647760-75647760 + TCGA-IR-A3LH-01 COSM4832649 c.3338G>A p.*1113* Substitution - coding silent 6:75715593-75715593 + RK109_C01 COSM1634930 c.1069G>T p.D357Y Substitution - Missense 6:75666786-75666786 + 101T COSM1725128 c.1401A>C p.L467F Substitution - Missense 6:75675443-75675443 + CHEWS019 COSM4586934 c.874G>A p.D292N Substitution - Missense 6:75663398-75663398 + Pat_07_B COSM5871123 c.1008_1010delTGA p.D341delD Deletion - In frame 6:75666725-75666727 + J87_T COSM3949480 c.798A>G p.Q266Q Substitution - coding silent 6:75663322-75663322 + SW403 COSM4357034 c.1446A>G p.V482V Substitution - coding silent 6:75675879-75675879 + PASLZM COSM5006463 c.1032A>G p.R344R Substitution - coding silent 6:75666749-75666749 + C086 COSM5538755 c.2038G>A p.E680K Substitution - Missense 6:75678890-75678890 + TCGA-EE-A3J5-06 COSM3629989 c.654T>A p.P218P Substitution - coding silent 6:75659365-75659365 + S01529 COSM4387337 c.2814T>C p.D938D Substitution - coding silent 6:75709624-75709624 + TCGA-CA-6717-01 COSM1081751 c.218G>A p.R73Q Substitution - Missense 6:75633591-75633591 + PD13627a COSM5776878 c.1498C>G p.R500G Substitution - Missense 6:75675931-75675931 + HCC063T COSM5812872 c.2910-2A>T p.? Unknown 6:75713511-75713511 + N-Thy004 COSM5094883 c.3036T>A p.D1012E Substitution - Missense 6:75713732-75713732 + DN1107E COSM5782392 c.1267G>A p.V423M Substitution - Missense 6:75670595-75670595 + LC_C8 COSM1187089 c.3289G>T p.A1097S Substitution - Missense 6:75715544-75715544 + TCGA-BR-8487-01 COSM3875581 c.2099A>G p.K700R Substitution - Missense 6:75695827-75695827 + TCGA-AP-A0LM-01 COSM1081757 c.544G>A p.G182S Substitution - Missense 6:75647795-75647795 + TCGA-B0-5102-01 COSM1137573 c.2877A>T p.G959G Substitution - coding silent 6:75711384-75711384 + HCT116 COSM1446009 c.3004delA p.G1004fs*11 Deletion - Frameshift 6:75713700-75713700 + BD114T COSM5503138 c.146+6G>T p.? Unknown 6:75621631-75621631 + TCGA-AX-A06H-01 COSM1154706 c.2109C>T p.D703D Substitution - coding silent 6:75695837-75695837 + 587278 COSM1181025 c.146+8delT p.? Unknown 6:75621633-75621633 + 587384 COSM1225213 c.1577A>G p.E526G Substitution - Missense 6:75676010-75676010 + LUAD-CHTN-MAD08-00104 COSM361283 c.939C>G p.P313P Substitution - coding silent 6:75663463-75663463 + 472 COSM4438020 c.2288+3G>C p.? Unknown 6:75697520-75697520 + 084T COSM1731129 c.2475G>T p.K825N Substitution - Missense 6:75702831-75702831 + TCGA-EE-A29V-06 COSM3629988 c.468C>T p.D156D Substitution - coding silent 6:75640693-75640693 + ORL-48 COSM4596431 c.122A>G p.E41G Substitution - Missense 6:75621601-75621601 + T2269 COSM4724867 c.2313T>C p.V771V Substitution - coding silent 6:75702669-75702669 + ESO-717 COSM1242819 c.1919C>A p.T640N Substitution - Missense 6:75678653-75678653 + TCGA-13-0890-01 COSM76376 c.890C>G p.T297S Substitution - Missense 6:75663414-75663414 + MZ7-mel COSM26306 c.2347C>T p.P783S Substitution - Missense 6:75702703-75702703 + TCGA-AA-3663-01 COSM1446006 c.2562A>G p.I854M Substitution - Missense 6:75702918-75702918 + CSCC-62-T COSM4471953 c.1750C>T p.P584S Substitution - Missense 6:75677158-75677158 + HCC082T COSM5816322 c.551-3T>C p.? Unknown 6:75659259-75659259 + ESCC-214T COSM3941840 c.2876G>A p.G959E Substitution - Missense 6:75711383-75711383 + TCGA-A4-7585-01 COSM3995120 c.2371G>A p.A791T Substitution - Missense 6:75702727-75702727 + ESO-717 COSM1242820 c.1919C>A p.T640N Substitution - Missense 6:75678653-75678653 + TCGA-BS-A0UV-01 COSM1081773 c.3226C>A p.L1076M Substitution - Missense 6:75715481-75715481 + HCC72T COSM1621948 c.1726A>T p.I576F Substitution - Missense 6:75677134-75677134 + TCGA-EE-A2A2-06 COSM3629992 c.2583G>A p.V861V Substitution - coding silent 6:75702939-75702939 + SW403 COSM4357033 c.1446A>G p.V482V Substitution - coding silent 6:75675879-75675879 + TCGA-CK-4951-01 COSM5152430 c.2342A>T p.Y781F Substitution - Missense 6:75702698-75702698 + HX17T COSM1621945 c.643C>T p.Q215* Substitution - Nonsense 6:75659354-75659354 + PT49 COSM5935183 c.509T>C p.V170A Substitution - Missense 6:75647760-75647760 + LUAD_E00565 COSM389578 c.2275C>T p.P759S Substitution - Missense 6:75697504-75697504 + 472 COSM4438019 c.2288+3G>C p.? Unknown 6:75697520-75697520 + LUAD-D00147 COSM362807 c.2624A>G p.N875S Substitution - Missense 6:75702980-75702980 + C086 COSM5538758 c.3182C>T p.P1061L Substitution - Missense 6:75715437-75715437 + TCGA-AX-A0J0-01 COSM1081753 c.344A>C p.K115T Substitution - Missense 6:75633717-75633717 + ESCC_BICR_041T COSM5441405 c.697G>T p.D233Y Substitution - Missense 6:75663221-75663221 + T2932 COSM4724870 c.3051T>G p.S1017S Substitution - coding silent 6:75713747-75713747 + YUMEZ COSM3175659 c.2684A>G p.Q895R Substitution - Missense 6:75703040-75703040 + 587350 COSM1225215 c.2209C>T p.R737W Substitution - Missense 6:75697438-75697438 + HCC72 COSM1621949 c.1726A>T p.I576F Substitution - Missense 6:75677134-75677134 + TCGA-AX-A0J0-01 COSM1596514 c.344A>C p.K115T Substitution - Missense 6:75633717-75633717 + 587332 COSM1225211 c.1971T>A p.Y657* Substitution - Nonsense 6:75678823-75678823 + TGH COSM1582699 c.2791G>A p.V931I Substitution - Missense 6:75709601-75709601 + TCGA-BI-A0VS-01 COSM1294342 c.1820G>A p.C607Y Substitution - Missense 6:75677228-75677228 + TCGA-AK-3465-01 COSM1496426 c.1225-2A>T p.? Unknown 6:75670551-75670551 + C086 COSM5538760 c.2596C>T p.H866Y Substitution - Missense 6:75702952-75702952 + TCGA-EE-A2A2-06 COSM3629993 c.2583G>A p.V861V Substitution - coding silent 6:75702939-75702939 + TCGA-CG-4462-01 COSM3875584 c.2388T>C p.C796C Substitution - coding silent 6:75702744-75702744 + TCGA-EL-A3GQ-01 COSM3374380 c.1619C>G p.T540R Substitution - Missense 6:75676052-75676052 + CSCC-44-T COSM4449724 c.3130-1G>C p.? Unknown 6:75715384-75715384 + SNU-C4 COSM4654137 c.626G>A p.R209Q Substitution - Missense 6:75659337-75659337 + IGROV-1 COSM1672574 c.3089G>A p.C1030Y Substitution - Missense 6:75713785-75713785 + PT37 COSM5919119 c.2910-8C>T p.? Unknown 6:75713505-75713505 + 2492702 COSM5715870 c.1654C>T p.Q552* Substitution - Nonsense 6:75677062-75677062 + HX17T COSM1621946 c.643C>T p.Q215* Substitution - Nonsense 6:75659354-75659354 + 101T COSM1725129 c.1401A>C p.L467F Substitution - Missense 6:75675443-75675443 + EGC3 COSM5061949 c.671_672insA p.C227fs*20 Insertion - Frameshift 6:75659382-75659383 + PT33 COSM5908676 c.996C>T p.I332I Substitution - coding silent 6:75666713-75666713 + TCGA-C8-A26Z-01 COSM1487935 c.2297G>A p.W766* Substitution - Nonsense 6:75702653-75702653 + TCGA-C8-A26Z-01 COSM1487934 c.2297G>A p.W766* Substitution - Nonsense 6:75702653-75702653 + TCGA-D1-A103-01 COSM1596510 c.707G>T p.R236I Substitution - Missense 6:75663231-75663231 + TCGA-CA-6717-01 COSM1445984 c.218G>A p.R73Q Substitution - Missense 6:75633591-75633591 + HCC159T COSM3662723 c.2744A>G p.Y915C Substitution - Missense 6:75709554-75709554 + Patient_1 COSM5413885 c.1365C>A p.L455L Substitution - coding silent 6:75670693-75670693 + CLL137 COSM1292368 c.2604G>A p.A868A Substitution - coding silent 6:75702960-75702960 + TCGA-B0-5102-01 COSM484366 c.2877A>T p.G959G Substitution - coding silent 6:75711384-75711384 + TCGA-CA-6717-01 COSM1446004 c.2545C>A p.R849S Substitution - Missense 6:75702901-75702901 + CLL080 COSM1292366 c.2266A>G p.I756V Substitution - Missense 6:75697495-75697495 + Pat_07_B COSM5871122 c.1008_1010delTGA p.D341delD Deletion - In frame 6:75666725-75666727 + TCGA-B5-A11E-01 COSM1081769 c.2793C>T p.V931V Substitution - coding silent 6:75709603-75709603 + Au4 COSM5604825 c.2545C>T p.R849C Substitution - Missense 6:75702901-75702901 + TCGA-G4-6588-01 COSM1445994 c.1384C>T p.P462S Substitution - Missense 6:75670712-75670712 + TCGA-F5-6814-01 COSM3430890 c.1900T>G p.F634V Substitution - Missense 6:75678634-75678634 + 2492701 COSM5715871 c.1654C>T p.Q552* Substitution - Nonsense 6:75677062-75677062 + TCGA-BP-4351-01 COSM3366605 c.1888G>C p.E630Q Substitution - Missense 6:75678622-75678622 + LUAD-YINHD COSM351453 c.2011G>C p.E671Q Substitution - Missense 6:75678863-75678863 + HCC72T COSM1621949 c.1726A>T p.I576F Substitution - Missense 6:75677134-75677134 + TCGA-AP-A0LM-01 COSM1596508 c.2288C>T p.A763V Substitution - Missense 6:75697517-75697517 + 92 COSM5014618 c.2927T>C p.M976T Substitution - Missense 6:75713530-75713530 + PD8996a COSM5782392 c.1267G>A p.V423M Substitution - Missense 6:75670595-75670595 + 3N44-VS-3T44 COSM4982307 c.1968A>G p.V656V Substitution - coding silent 6:75678820-75678820 + EW8 COSM3175629 c.1757A>G p.E586G Substitution - Missense 6:75677165-75677165 + TCGA-AA-3811-01 COSM5108225 c.2299delT p.L768fs*32 Deletion - Frameshift 6:75702655-75702655 + ESO-837 COSM1265257 c.521C>A p.P174H Substitution - Missense 6:75647772-75647772 + TCGA-QU-A6IO-01 COSM4876592 c.810A>G p.L270L Substitution - coding silent 6:75663334-75663334 + T3090 COSM4724859 c.1026C>T p.N342N Substitution - coding silent 6:75666743-75666743 + S37_post COSM4654138 c.626G>A p.R209Q Substitution - Missense 6:75659337-75659337 + TCGA-BS-A0UV-01 COSM1596504 c.3226C>A p.L1076M Substitution - Missense 6:75715481-75715481 + TCGA-AA-3811-01 COSM1446009 c.3004delA p.G1004fs*11 Deletion - Frameshift 6:75713700-75713700 + TCGA-EL-A3GQ-01 COSM3374381 c.1619C>G p.T540R Substitution - Missense 6:75676052-75676052 + ESCC-153T COSM3941845 c.3192G>A p.M1064I Substitution - Missense 6:75715447-75715447 + TCGA-EE-A3J5-06 COSM3629990 c.654T>A p.P218P Substitution - coding silent 6:75659365-75659365 + TCGA-E2-A1LL-01 COSM5229551 c.3144delT p.F1049fs*5 Deletion - Frameshift 6:75715399-75715399 + TCGA-66-2744-01 COSM1150496 c.172G>A p.E58K Substitution - Missense 6:75623925-75623925 + TCGA-AD-5900-01 COSM5128895 c.452C>G p.A151G Substitution - Missense 6:75634805-75634805 + BD114T COSM5503137 c.146+6G>T p.? Unknown 6:75621631-75621631 + 2497775 COSM5750574 c.2644C>A p.Q882K Substitution - Missense 6:75703000-75703000 + TCGA-B0-4852-01 COSM1137572 c.507A>C p.K169N Substitution - Missense 6:75647758-75647758 + TCGA-BP-4351-01 COSM3366606 c.1888G>C p.E630Q Substitution - Missense 6:75678622-75678622 + RK109_C01 COSM1634931 c.1069G>T p.D357Y Substitution - Missense 6:75666786-75666786 + TCGA-BC-A112-01 COSM3175626 c.1751C>G p.P584R Substitution - Missense 6:75677159-75677159 + 2492703 COSM5715870 c.1654C>T p.Q552* Substitution - Nonsense 6:75677062-75677062 + TCGA-AX-A06H-01 COSM1081763 c.2109C>T p.D703D Substitution - coding silent 6:75695837-75695837 + 587332 COSM1225210 c.1971T>A p.Y657* Substitution - Nonsense 6:75678823-75678823 + TCGA-GF-A6C9-06 COSM4900861 c.2264T>C p.F755S Substitution - Missense 6:75697493-75697493 + PD8996a COSM5782393 c.1267G>A p.V423M Substitution - Missense 6:75670595-75670595 + TCGA-BS-A0UF-01 COSM1081771 c.3020G>T p.R1007I Substitution - Missense 6:75713716-75713716 + C0063T COSM4155294 c.1392+1G>C p.? Unknown 6:75670721-75670721 + TCGA-F5-6814-01 COSM3430889 c.1900T>G p.F634V Substitution - Missense 6:75678634-75678634 + TCGA-GF-A6C9-06 COSM4900859 c.2264T>C p.F755S Substitution - Missense 6:75697493-75697493 + 2492702 COSM5715871 c.1654C>T p.Q552* Substitution - Nonsense 6:75677062-75677062 + TCGA-BR-8487-01 COSM3875579 c.2099A>G p.K700R Substitution - Missense 6:75695827-75695827 + TCGA-B5-A11E-01 COSM1596506 c.2793C>T p.V931V Substitution - coding silent 6:75709603-75709603 + CHC892T COSM4798396 c.702G>A p.L234L Substitution - coding silent 6:75663226-75663226 + HCC72 COSM1621948 c.1726A>T p.I576F Substitution - Missense 6:75677134-75677134 + TCGA-AZ-6598-01 COSM1446008 c.3004delA p.G1004fs*11 Deletion - Frameshift 6:75713700-75713700 + TCGA-EE-A29V-06 COSM3629987 c.468C>T p.D156D Substitution - coding silent 6:75640693-75640693 + TCGA-D1-A103-01 COSM1081759 c.707G>T p.R236I Substitution - Missense 6:75663231-75663231 + pfg019T COSM1643144 c.3128A>C p.E1043A Substitution - Missense 6:75713824-75713824 + CSCC-62-T COSM4471952 c.1750C>T p.P584S Substitution - Missense 6:75677158-75677158 + DLBCL-PatientE COSM220345 c.1560A>C p.Q520H Substitution - Missense 6:75675993-75675993 + CHC892T COSM4798396 c.702G>A p.L234L Substitution - coding silent 6:75663226-75663226 + HCC159 COSM3662723 c.2744A>G p.Y915C Substitution - Missense 6:75709554-75709554 + TCGA-AN-A046-01 COSM3831076 c.3139C>T p.L1047F Substitution - Missense 6:75715394-75715394 + Pat_41_B COSM3831078 c.3139C>T p.L1047F Substitution - Missense 6:75715394-75715394 + TCGA-DK-A1AC-01 COSM1312395 c.3281C>G p.S1094* Substitution - Nonsense 6:75715536-75715536 + B111 COSM1754930 c.1796A>G p.Y599C Substitution - Missense 6:75677204-75677204 + 79 COSM5016146 c.274delC p.R92fs*10 Deletion - Frameshift 6:75633647-75633647 + CHC892T COSM4798398 c.702G>A p.L234L Substitution - coding silent 6:75663226-75663226 + TCGA-BH-A0B6-01 COSM3831073 c.1543C>G p.Q515E Substitution - Missense 6:75675976-75675976 + TCGA-B0-5081-01 COSM3366603 c.588A>T p.Q196H Substitution - Missense 6:75659299-75659299 + TCGA-IR-A3LH-01 COSM4832651 c.3338G>A p.*1113* Substitution - coding silent 6:75715593-75715593 + 587384 COSM1225212 c.1577A>G p.E526G Substitution - Missense 6:75676010-75676010 + TCGA-DS-A1OD-01 COSM1294340 c.1784G>C p.C595S Substitution - Missense 6:75677192-75677192 + CSCC-60-T COSM4556143 c.67G>T p.E23* Substitution - Nonsense 6:75621546-75621546 + TCGA-HU-A4GU-01 COSM3875585 c.2593A>C p.N865H Substitution - Missense 6:75702949-75702949 + TCGA-G4-6588-01 COSM1445995 c.1384C>T p.P462S Substitution - Missense 6:75670712-75670712 + CSCC-60-T COSM4556142 c.67G>T p.E23* Substitution - Nonsense 6:75621546-75621546 + SNU-C4 COSM4654141 c.1761A>T p.E587D Substitution - Missense 6:75677169-75677169 + TCGA-A2-A0YH-01 COSM1487933 c.1471C>G p.L491V Substitution - Missense 6:75675904-75675904 + S00022 COSM315075 c.257T>A p.L86* Substitution - Nonsense 6:75633630-75633630 + TCGA-66-2759-01 COSM743095 c.1941C>T p.F647F Substitution - coding silent 6:75678675-75678675 + S00022 COSM5656537 c.257T>A p.L86* Substitution - Nonsense 6:75633630-75633630 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.485784 6q13-q14.3 605003 2399082|CGAP|BC028583|A/C|non-coding||3824|Validated; 2399083|CGAP|BC028583|A/G|coding|Tyr1099Cys|3518|Validated; 2399084|CGAP|BC028583|A/G|non-coding||3579|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E1043A c.3128A>C 6 76423540 STAD A - Frameshift p.V370*fs*1 c.1107delA 6 76376537 STAD A G Missense p.I756V c.2266A>G 6 76407211 CLL A G Synonymous p.L270L c.810A>G 6 76373050 PRAD A T Missense p.Q196H c.588A>T 6 76369015 RCCC A T Synonymous p.G959G c.2877A>T 6 76421100 RCCC C A Missense p.P174H c.521C>A 6 76357488 ESCA C A Synonymous p.V443V c.1329C>A 6 76380373 BRCA CC TT Missense p.P661L c.1981_1982delinsTT 6 76388549 CM C - Frameshift p.Q882Rfs*18 c.2644delC 6 76412714 HNSC C G Missense p.L491V c.1471C>G 6 76385620 BRCA C G Missense p.L718V c.2152C>G 6 76405596 LUAD C G Missense p.T297S c.890C>G 6 76373130 OV C G Missense p.T540R c.1619C>G 6 76385768 THCA C T Missense p.H138Y c.412C>T 6 76344481 HNSC C T Synonymous p.D156D c.468C>T 6 76350409 CM C T Synonymous p.D703D c.2109C>T 6 76405553 UCEC C T Synonymous p.F647F c.1941C>T 6 76388391 LUSC C T Synonymous p.F773F c.2319C>T 6 76412391 CM C T Synonymous p.V167V c.501C>T 6 76357468 CM G A 5-UTRSNV . c.1-51G>A 6 76312190 DLBCL G A IntronicSNV . c.52+3079G>A 6 76315371 CLL G A IntronicSNV . c.551-4252G>A 6 76364726 MB G A Missense p.D337N c.1009G>A 6 76376442 LUAD G A Missense p.E58K c.172G>A 6 76333641 LUSC G A Nonsense p.W766* c.2297G>A 6 76412369 BRCA G A Synonymous p.A868A c.2604G>A 6 76412676 CLL G A Synonymous p.V861V c.2583G>A 6 76412655 CM G C Missense p.C360S c.1079G>C 6 76376512 HNSC G C Missense p.E630Q c.1888G>C 6 76388338 RCCC G C Missense p.E752Q c.2254G>C 6 76407199 HNSC G C Synonymous p.L1076L c.3228G>C 6 76425199 CM GC TT Missense p.Q122* c.363_364delinsTT 6 76344432 HNSC - G IntronicInsertion . c.458+190dupG 6 76344717 UCEC G T Missense p.D357Y c.1069G>T 6 76376502 HC G T Missense p.M976I c.2928G>T 6 76423247 LUAD G T Nonsense p.E476* c.1426G>T 6 76385184 LUAD T A Nonsense p.L86* c.257T>A 6 76343346 SCLC T A Synonymous p.P218P c.654T>A 6 76369081 CM T C Synonymous p.C796C c.2388T>C 6 76412460 STAD TGA - InFrameDeletion p.D341delD c.1020_1022delTGA 6 76376441 CM T - IntronicDeletion . c.146+16delT 6 76331349 STAD T - IntronicDeletion . c.2909+79delT 6 76421202 ESCA