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 5 38966809 38966809 + Silent SNP C C A TCGA-OR-A5JA-01A-11D-A29I-10 TCGA-OR-A5JA-10A-01D-A29L-10 g.chr5:38966809C>A c.1233G>T c.(1231-1233)gtG>gtT p.V411V BLCA 5 38942465 38942465 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 g.chr5:38942465C>T c.5068G>A c.(5068-5070)Gag>Aag p.E1690K BLCA 5 38942964 38942964 + Missense_Mutation SNP C C G TCGA-UY-A9PE-01A-11D-A38G-08 TCGA-UY-A9PE-10A-01D-A38J-08 g.chr5:38942964C>G c.5023G>C c.(5023-5025)Gaa>Caa p.E1675Q BLCA 5 38945050 38945050 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr5:38945050G>A c.4754C>T c.(4753-4755)tCa>tTa p.S1585L BLCA 5 38947495 38947495 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 g.chr5:38947495C>T c.4185G>A c.(4183-4185)ttG>ttA p.L1395L BLCA 5 38949890 38949890 + Missense_Mutation SNP G G A TCGA-5N-A9KI-01A-31D-A42E-08 TCGA-5N-A9KI-10A-01D-A42H-08 g.chr5:38949890G>A c.4060C>T c.(4060-4062)Cca>Tca p.P1354S BLCA 5 38950364 38950364 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 g.chr5:38950364C>G c.3586G>C c.(3586-3588)Gaa>Caa p.E1196Q BLCA 5 38950448 38950448 + Missense_Mutation SNP G G A TCGA-XF-A9T6-01A-11D-A42E-08 TCGA-XF-A9T6-10A-01D-A42H-08 g.chr5:38950448G>A c.3502C>T c.(3502-3504)Cac>Tac p.H1168Y BLCA 5 38950451 38950451 + Missense_Mutation SNP T T C TCGA-XF-A9T6-01A-11D-A42E-08 TCGA-XF-A9T6-10A-01D-A42H-08 g.chr5:38950451T>C c.3499A>G c.(3499-3501)Aag>Gag p.K1167E BLCA 5 38950600 38950600 + Missense_Mutation SNP C C T TCGA-XF-A9SI-01A-11D-A391-08 TCGA-XF-A9SI-10A-01D-A394-08 g.chr5:38950600C>T c.3350G>A c.(3349-3351)gGa>gAa p.G1117E BLCA 5 38950622 38950622 + Missense_Mutation SNP G G A TCGA-CF-A9FH-01A-11D-A38G-08 TCGA-CF-A9FH-10A-01D-A38J-08 g.chr5:38950622G>A c.3328C>T c.(3328-3330)Cgt>Tgt p.R1110C BLCA 5 38950695 38950695 + Missense_Mutation SNP G G T TCGA-GU-AATQ-01A-11D-A391-08 TCGA-GU-AATQ-10A-01D-A394-08 g.chr5:38950695G>T c.3255C>A c.(3253-3255)ttC>ttA p.F1085L BLCA 5 38952313 38952313 + Nonsense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 g.chr5:38952313C>A c.3112G>T c.(3112-3114)Gaa>Taa p.E1038* BLCA 5 38954947 38954947 + Missense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr5:38954947C>T c.2626G>A c.(2626-2628)Gtc>Atc p.V876I BLCA 5 38955780 38955780 + Silent SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 g.chr5:38955780C>T c.2526G>A c.(2524-2526)ttG>ttA p.L842L BLCA 5 38958617 38958617 + Missense_Mutation SNP T T C TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 g.chr5:38958617T>C c.2348A>G c.(2347-2349)aAt>aGt p.N783S BLCA 5 38963033 38963033 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr5:38963033G>C c.1511C>G c.(1510-1512)aCa>aGa p.T504R BLCA 5 38963047 38963047 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr5:38963047C>T c.1497G>A c.(1495-1497)caG>caA p.Q499Q BLCA 5 38963098 38963098 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 g.chr5:38963098C>T c.1446G>A c.(1444-1446)atG>atA p.M482I BLCA 5 38966820 38966820 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr5:38966820G>C c.1222C>G c.(1222-1224)Cta>Gta p.L408V BLCA 5 38982013 38982013 + Missense_Mutation SNP G G A TCGA-ZF-AA53-01A-11D-A391-08 TCGA-ZF-AA53-10A-01D-A394-08 g.chr5:38982013G>A c.709C>T c.(709-711)Cat>Tat p.H237Y BLCA 5 38982074 38982074 + Silent SNP G G A TCGA-ZF-AA53-01A-11D-A391-08 TCGA-ZF-AA53-10A-01D-A394-08 g.chr5:38982074G>A c.648C>T c.(646-648)atC>atT p.I216I BLCA 5 38991111 38991111 + Missense_Mutation SNP C C G TCGA-G2-AA3D-01A-11D-A391-08 TCGA-G2-AA3D-10A-01D-A394-08 g.chr5:38991111C>G c.523G>C c.(523-525)Gat>Cat p.D175H BLCA 5 38991175 38991175 + Missense_Mutation SNP C C T TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr5:38991175C>T c.459G>A c.(457-459)atG>atA p.M153I BRCA 5 38944601 38944601 + Silent SNP G G C TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 g.chr5:38944601G>C c.4860C>G c.(4858-4860)gtC>gtG p.V1620V BRCA 5 38944651 38944651 + Missense_Mutation SNP C C T TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 g.chr5:38944651C>T c.4810G>A c.(4810-4812)Gat>Aat p.D1604N BRCA 5 38947460 38947460 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr5:38947460G>A c.4220C>T c.(4219-4221)tCc>tTc p.S1407F BRCA 5 38947476 38947476 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr5:38947476T>G c.4204A>C c.(4204-4206)Acc>Ccc p.T1402P BRCA 5 38949951 38949951 + Silent SNP C C T TCGA-GM-A2D9-01A-11D-A18P-09 TCGA-GM-A2D9-11A-42D-A18P-09 g.chr5:38949951C>T c.3999G>A c.(3997-3999)ctG>ctA p.L1333L BRCA 5 38952359 38952359 + Silent SNP T T C TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 g.chr5:38952359T>C c.3066A>G c.(3064-3066)ctA>ctG p.L1022L BRCA 5 38957828 38957828 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr5:38957828G>A c.2425C>T c.(2425-2427)Ctc>Ttc p.L809F BRCA 5 38958580 38958580 + Silent SNP G G A TCGA-BH-A0H0-01A-11W-A071-09 TCGA-BH-A0H0-10A-01W-A071-09 g.chr5:38958580G>A c.2385C>T c.(2383-2385)tcC>tcT p.S795S BRCA 5 38982118 38982118 + Missense_Mutation SNP C C A TCGA-AC-A3EH-01A-22D-A228-09 TCGA-AC-A3EH-11B-21D-A22A-09 g.chr5:38982118C>A c.604G>T c.(604-606)Gtg>Ttg p.V202L BRCA 5 39002728 39002728 + Missense_Mutation SNP C C T TCGA-BH-A0HY-01A-11W-A071-09 TCGA-BH-A0HY-10A-02W-A071-09 g.chr5:39002728C>T c.301G>A c.(301-303)Gca>Aca p.A101T BRCA 5 39021230 39021230 + Missense_Mutation SNP C C T TCGA-D8-A13Z-01A-11D-A10Y-09 TCGA-D8-A13Z-10A-01D-A110-09 g.chr5:39021230C>T c.106G>A c.(106-108)Gat>Aat p.D36N CESC 5 38954960 38954960 + Silent SNP T T C TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 g.chr5:38954960T>C c.2613A>G c.(2611-2613)ttA>ttG p.L871L CESC 5 38957799 38957799 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 g.chr5:38957799C>T c.2454G>A c.(2452-2454)ctG>ctA p.L818L CESC 5 38957801 38957801 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr5:38957801G>C c.2452C>G c.(2452-2454)Ctg>Gtg p.L818V CESC 5 38957826 38957826 + Silent SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 g.chr5:38957826G>A c.2427C>T c.(2425-2427)ctC>ctT p.L809L CESC 5 38963010 38963010 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr5:38963010G>T c.1534C>A c.(1534-1536)Ctc>Atc p.L512I CESC 5 38963098 38963098 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr5:38963098C>T c.1446G>A c.(1444-1446)atG>atA p.M482I CESC 5 38975684 38975684 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr5:38975684G>C c.844C>G c.(844-846)Cta>Gta p.L282V CHOL 5 38946582 38946582 + Missense_Mutation SNP G G T TCGA-W5-AA2Q-01A-11D-A417-09 TCGA-W5-AA2Q-10A-01D-A41A-09 g.chr5:38946582G>T c.4387C>A c.(4387-4389)Cat>Aat p.H1463N COAD 5 38945041 38945041 + Missense_Mutation SNP C C A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr5:38945041C>A c.4763G>T c.(4762-4764)aGc>aTc p.S1588I COAD 5 38945637 38945637 + Missense_Mutation SNP C C T TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr5:38945637C>T c.4589G>A c.(4588-4590)gGt>gAt p.G1530D COAD 5 38946606 38946606 + Missense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr5:38946606C>T c.4363G>A c.(4363-4365)Gat>Aat p.D1455N COAD 5 38949833 38949833 + Missense_Mutation SNP A A G TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr5:38949833A>G c.4117T>C c.(4117-4119)Tcc>Ccc p.S1373P COAD 5 38950099 38950099 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:38950099G>A c.3851C>T c.(3850-3852)tCg>tTg p.S1284L COAD 5 38950546 38950546 + Missense_Mutation SNP G G A TCGA-AA-3655-01A-02D-1719-10 TCGA-AA-3655-11A-01D-1719-10 g.chr5:38950546G>A c.3404C>T c.(3403-3405)aCg>aTg p.T1135M COAD 5 38950689 38950689 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:38950689G>T c.3261C>A c.(3259-3261)ttC>ttA p.F1087L COAD 5 38952519 38952519 + Missense_Mutation SNP A A G TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr5:38952519A>G c.2906T>C c.(2905-2907)gTa>gCa p.V969A COAD 5 38953610 38953610 + Missense_Mutation SNP C C A TCGA-CM-5863-01A-21D-1835-10 TCGA-CM-5863-10A-01D-1835-10 g.chr5:38953610C>A c.2743G>T c.(2743-2745)Gat>Tat p.D915Y COAD 5 38954913 38954913 + Missense_Mutation SNP A A G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr5:38954913A>G c.2660T>C c.(2659-2661)gTa>gCa p.V887A COAD 5 38959311 38959311 + Missense_Mutation SNP T T C TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr5:38959311T>C c.2164A>G c.(2164-2166)Act>Gct p.T722A COAD 5 38959311 38959311 + Missense_Mutation SNP T T C TCGA-G4-6306-01A-11D-1771-10 TCGA-G4-6306-10A-01D-1771-10 g.chr5:38959311T>C c.2164A>G c.(2164-2166)Act>Gct p.T722A COAD 5 38959909 38959909 + Missense_Mutation SNP T T C TCGA-CA-6719-01A-11D-1835-10 TCGA-CA-6719-10A-01D-1835-10 g.chr5:38959909T>C c.2023A>G c.(2023-2025)Atg>Gtg p.M675V COAD 5 38960005 38960005 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:38960005C>T c.1927G>A c.(1927-1929)Gaa>Aaa p.E643K COAD 5 38960005 38960005 + Missense_Mutation SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr5:38960005C>T c.1927G>A c.(1927-1929)Gaa>Aaa p.E643K COAD 5 38962629 38962629 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr5:38962629C>A c.1626G>T c.(1624-1626)gaG>gaT p.E542D COAD 5 38963129 38963129 + Missense_Mutation SNP G G T TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr5:38963129G>T c.1415C>A c.(1414-1416)gCc>gAc p.A472D COAD 5 38967304 38967304 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:38967304C>T c.1177G>A c.(1177-1179)Gca>Aca p.A393T COAD 5 38968110 38968110 + Missense_Mutation SNP T T C TCGA-AA-3854-01A-01W-0900-09 TCGA-AA-3854-10A-01W-0900-09 g.chr5:38968110T>C c.995A>G c.(994-996)tAt>tGt p.Y332C COAD 5 38968126 38968126 + Missense_Mutation SNP G G C TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr5:38968126G>C c.979C>G c.(979-981)Cta>Gta p.L327V COAD 5 38975693 38975693 + Missense_Mutation SNP C C A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr5:38975693C>A c.835G>T c.(835-837)Gca>Tca p.A279S COAD 5 38982000 38982000 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr5:38982000C>T c.722G>A c.(721-723)cGa>cAa p.R241Q COAD 5 38982101 38982101 + Silent SNP T T C TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr5:38982101T>C c.621A>G c.(619-621)ggA>ggG p.G207G COAD 5 38991081 38991081 + Nonsense_Mutation SNP G G A TCGA-AA-3552-01A-01W-0831-10 TCGA-AA-3552-10A-01W-0831-10 g.chr5:38991081G>A c.553C>T c.(553-555)Cga>Tga p.R185* COAD 5 38991157 38991157 + Silent SNP G G T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr5:38991157G>T c.477C>A c.(475-477)tcC>tcA p.S159S COAD 5 39002764 39002764 + Missense_Mutation SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr5:39002764G>A c.265C>T c.(265-267)Cgg>Tgg p.R89W COADREAD 5 38945041 38945041 + Missense_Mutation SNP C C A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr5:38945041C>A c.4763G>T c.(4762-4764)aGc>aTc p.S1588I COADREAD 5 38945637 38945637 + Missense_Mutation SNP C C T TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr5:38945637C>T c.4589G>A c.(4588-4590)gGt>gAt p.G1530D COADREAD 5 38946606 38946606 + Missense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr5:38946606C>T c.4363G>A c.(4363-4365)Gat>Aat p.D1455N COADREAD 5 38949833 38949833 + Missense_Mutation SNP A A G TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr5:38949833A>G c.4117T>C c.(4117-4119)Tcc>Ccc p.S1373P COADREAD 5 38949902 38949902 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:38949902C>A c.4048G>T c.(4048-4050)Gct>Tct p.A1350S COADREAD 5 38950099 38950099 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:38950099G>A c.3851C>T c.(3850-3852)tCg>tTg p.S1284L COADREAD 5 38950546 38950546 + Missense_Mutation SNP G G A TCGA-AA-3655-01A-02D-1719-10 TCGA-AA-3655-11A-01D-1719-10 g.chr5:38950546G>A c.3404C>T c.(3403-3405)aCg>aTg p.T1135M COADREAD 5 38950689 38950689 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:38950689G>T c.3261C>A c.(3259-3261)ttC>ttA p.F1087L COADREAD 5 38950726 38950726 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:38950726C>T c.3224G>A c.(3223-3225)cGa>cAa p.R1075Q COADREAD 5 38952519 38952519 + Missense_Mutation SNP A A G TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr5:38952519A>G c.2906T>C c.(2905-2907)gTa>gCa p.V969A COADREAD 5 38953610 38953610 + Missense_Mutation SNP C C A TCGA-CM-5863-01A-21D-1835-10 TCGA-CM-5863-10A-01D-1835-10 g.chr5:38953610C>A c.2743G>T c.(2743-2745)Gat>Tat p.D915Y COADREAD 5 38954913 38954913 + Missense_Mutation SNP A A G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr5:38954913A>G c.2660T>C c.(2659-2661)gTa>gCa p.V887A COADREAD 5 38959311 38959311 + Missense_Mutation SNP T T C TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr5:38959311T>C c.2164A>G c.(2164-2166)Act>Gct p.T722A COADREAD 5 38959311 38959311 + Missense_Mutation SNP T T C TCGA-G4-6306-01A-11D-1771-10 TCGA-G4-6306-10A-01D-1771-10 g.chr5:38959311T>C c.2164A>G c.(2164-2166)Act>Gct p.T722A COADREAD 5 38959909 38959909 + Missense_Mutation SNP T T C TCGA-CA-6719-01A-11D-1835-10 TCGA-CA-6719-10A-01D-1835-10 g.chr5:38959909T>C c.2023A>G c.(2023-2025)Atg>Gtg p.M675V COADREAD 5 38960005 38960005 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:38960005C>T c.1927G>A c.(1927-1929)Gaa>Aaa p.E643K COADREAD 5 38960005 38960005 + Missense_Mutation SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr5:38960005C>T c.1927G>A c.(1927-1929)Gaa>Aaa p.E643K COADREAD 5 38962629 38962629 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr5:38962629C>A c.1626G>T c.(1624-1626)gaG>gaT p.E542D COADREAD 5 38963129 38963129 + Missense_Mutation SNP G G T TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr5:38963129G>T c.1415C>A c.(1414-1416)gCc>gAc p.A472D COADREAD 5 38967304 38967304 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:38967304C>T c.1177G>A c.(1177-1179)Gca>Aca p.A393T COADREAD 5 38968110 38968110 + Missense_Mutation SNP T T C TCGA-AA-3854-01A-01W-0900-09 TCGA-AA-3854-10A-01W-0900-09 g.chr5:38968110T>C c.995A>G c.(994-996)tAt>tGt p.Y332C COADREAD 5 38968126 38968126 + Missense_Mutation SNP G G C TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr5:38968126G>C c.979C>G c.(979-981)Cta>Gta p.L327V COADREAD 5 38975693 38975693 + Missense_Mutation SNP C C A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr5:38975693C>A c.835G>T c.(835-837)Gca>Tca p.A279S COADREAD 5 38982000 38982000 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr5:38982000C>T c.722G>A c.(721-723)cGa>cAa p.R241Q COADREAD 5 38982005 38982005 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:38982005C>A c.717G>T c.(715-717)aaG>aaT p.K239N COADREAD 5 38982101 38982101 + Silent SNP T T C TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr5:38982101T>C c.621A>G c.(619-621)ggA>ggG p.G207G COADREAD 5 38991081 38991081 + Nonsense_Mutation SNP G G A TCGA-AA-3552-01A-01W-0831-10 TCGA-AA-3552-10A-01W-0831-10 g.chr5:38991081G>A c.553C>T c.(553-555)Cga>Tga p.R185* COADREAD 5 38991157 38991157 + Silent SNP G G T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr5:38991157G>T c.477C>A c.(475-477)tcC>tcA p.S159S COADREAD 5 39002764 39002764 + Missense_Mutation SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr5:39002764G>A c.265C>T c.(265-267)Cgg>Tgg p.R89W DLBC 5 38944635 38944635 + Missense_Mutation SNP C C T TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr5:38944635C>T c.4826G>A c.(4825-4827)cGt>cAt p.R1609H DLBC 5 38950761 38950761 + Silent SNP A A G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr5:38950761A>G c.3189T>C c.(3187-3189)gaT>gaC p.D1063D DLBC 5 38960006 38960006 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr5:38960006G>A c.1926C>T c.(1924-1926)ccC>ccT p.P642P ESCA 5 38942960 38942960 + Nonsense_Mutation SNP A A C TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 g.chr5:38942960A>C c.5027T>G c.(5026-5028)tTa>tGa p.L1676* ESCA 5 38945021 38945021 + Silent SNP A A G TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 g.chr5:38945021A>G c.4783T>C c.(4783-4785)Tta>Cta p.L1595L ESCA 5 38945607 38945607 + Missense_Mutation SNP A A T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 g.chr5:38945607A>T c.4619T>A c.(4618-4620)aTa>aAa p.I1540K ESCA 5 38949966 38949966 + Frame_Shift_Del DEL A A - TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 g.chr5:38949966delA c.3984delT c.(3982-3984)tttfs p.F1328fs ESCA 5 38950435 38950435 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 g.chr5:38950435G>A c.3515C>T c.(3514-3516)aCt>aTt p.T1172I ESCA 5 38953112 38953113 + Frame_Shift_Ins INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr5:38953112_38953113insT c.2871_2872insA c.(2869-2874)aaacagfs p.Q958fs ESCA 5 38991089 38991089 + Missense_Mutation SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 g.chr5:38991089C>A c.545G>T c.(544-546)aGa>aTa p.R182I GBM 5 38950386 38950386 + Missense_Mutation SNP A A C TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 g.chr5:38950386A>C c.3564T>G c.(3562-3564)aaT>aaG p.N1188K GBM 5 38972038 38972038 + Missense_Mutation SNP C C T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 g.chr5:38972038C>T c.913G>A c.(913-915)Gga>Aga p.G305R GBMLGG 5 38950386 38950386 + Missense_Mutation SNP A A C TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 g.chr5:38950386A>C c.3564T>G c.(3562-3564)aaT>aaG p.N1188K GBMLGG 5 38972038 38972038 + Missense_Mutation SNP C C T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 g.chr5:38972038C>T c.913G>A c.(913-915)Gga>Aga p.G305R HNSC 5 38944564 38944564 + Nonsense_Mutation SNP C C A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 g.chr5:38944564C>A c.4897G>T c.(4897-4899)Gag>Tag p.E1633* HNSC 5 38944623 38944623 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 g.chr5:38944623C>T c.4838G>A c.(4837-4839)cGc>cAc p.R1613H HNSC 5 38950400 38950400 + Missense_Mutation SNP T T G TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 g.chr5:38950400T>G c.3550A>C c.(3550-3552)Aaa>Caa p.K1184Q HNSC 5 38950723 38950723 + Missense_Mutation SNP G G C TCGA-CQ-6220-01A-11D-1912-08 TCGA-CQ-6220-10A-01D-1912-08 g.chr5:38950723G>C c.3227C>G c.(3226-3228)tCt>tGt p.S1076C HNSC 5 38955713 38955713 + Missense_Mutation SNP G G A TCGA-MT-A67A-01A-11D-A30E-08 TCGA-MT-A67A-10A-01D-A30H-08 g.chr5:38955713G>A c.2593C>T c.(2593-2595)Cgt>Tgt p.R865C HNSC 5 38957791 38957791 + Missense_Mutation SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 g.chr5:38957791C>T c.2462G>A c.(2461-2463)aGa>aAa p.R821K HNSC 5 38964982 38964982 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 g.chr5:38964982G>C c.1312C>G c.(1312-1314)Ctt>Gtt p.L438V HNSC 5 38991111 38991111 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 g.chr5:38991111C>G c.523G>C c.(523-525)Gat>Cat p.D175H HNSC 5 38991175 38991175 + Missense_Mutation SNP C C T TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr5:38991175C>T c.459G>A c.(457-459)atG>atA p.M153I KIPAN 5 38945658 38945658 + Missense_Mutation SNP C C G TCGA-A3-3313-01A-01D-0966-08 TCGA-A3-3313-11A-01D-0966-08 g.chr5:38945658C>G c.4568G>C c.(4567-4569)tGt>tCt p.C1523S KIPAN 5 38950756 38950756 + Missense_Mutation SNP T T C TCGA-CZ-5989-01A-11D-1669-08 TCGA-CZ-5989-11A-01D-1669-08 g.chr5:38950756T>C c.3194A>G c.(3193-3195)aAt>aGt p.N1065S KIPAN 5 38954924 38954924 + Nonsense_Mutation SNP A A C TCGA-EV-5902-01A-11D-1589-08 TCGA-EV-5902-10A-01D-1589-08 g.chr5:38954924A>C c.2649T>G c.(2647-2649)taT>taG p.Y883* KIPAN 5 38955727 38955727 + Missense_Mutation SNP C C T TCGA-A3-3385-01A-02D-1421-08 TCGA-A3-3385-11A-01D-1421-08 g.chr5:38955727C>T c.2579G>A c.(2578-2580)gGt>gAt p.G860D KIPAN 5 38963027 38963027 + Frame_Shift_Del DEL T T - TCGA-B0-5119-01A-02D-1421-08 TCGA-B0-5119-11A-01D-1421-08 g.chr5:38963027delT c.1517delA c.(1516-1518)cagfs p.Q506fs KIRC 5 38945658 38945658 + Missense_Mutation SNP C C G TCGA-A3-3313-01A-01D-0966-08 TCGA-A3-3313-11A-01D-0966-08 g.chr5:38945658C>G c.4568G>C c.(4567-4569)tGt>tCt p.C1523S KIRC 5 38950756 38950756 + Missense_Mutation SNP T T C TCGA-CZ-5989-01A-11D-1669-08 TCGA-CZ-5989-11A-01D-1669-08 g.chr5:38950756T>C c.3194A>G c.(3193-3195)aAt>aGt p.N1065S KIRC 5 38955727 38955727 + Missense_Mutation SNP C C T TCGA-A3-3385-01A-02D-1421-08 TCGA-A3-3385-11A-01D-1421-08 g.chr5:38955727C>T c.2579G>A c.(2578-2580)gGt>gAt p.G860D KIRC 5 38963027 38963027 + Frame_Shift_Del DEL T T - TCGA-B0-5119-01A-02D-1421-08 TCGA-B0-5119-11A-01D-1421-08 g.chr5:38963027delT c.1517delA c.(1516-1518)cagfs p.Q506fs KIRP 5 38954924 38954924 + Nonsense_Mutation SNP A A C TCGA-EV-5902-01A-11D-1589-08 TCGA-EV-5902-10A-01D-1589-08 g.chr5:38954924A>C c.2649T>G c.(2647-2649)taT>taG p.Y883* LIHC 5 38945618 38945618 + Missense_Mutation SNP T T A TCGA-DD-AAE7-01A-11D-A40R-10 TCGA-DD-AAE7-10A-01D-A40U-10 g.chr5:38945618T>A c.4608A>T c.(4606-4608)caA>caT p.Q1536H LIHC 5 38950476 38950476 + Missense_Mutation SNP T T A TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr5:38950476T>A c.3474A>T c.(3472-3474)caA>caT p.Q1158H LIHC 5 38952348 38952348 + Nonsense_Mutation SNP G G T TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr5:38952348G>T c.3077C>A c.(3076-3078)tCg>tAg p.S1026* LIHC 5 38958582 38958582 + Missense_Mutation SNP A A T TCGA-CC-A3MB-01A-11D-A20W-10 TCGA-CC-A3MB-10A-01D-A20W-10 g.chr5:38958582A>T c.2383T>A c.(2383-2385)Tcc>Acc p.S795T LIHC 5 38967502 38967502 + Missense_Mutation SNP C C T TCGA-DD-AADD-01A-11D-A40R-10 TCGA-DD-AADD-10A-01D-A40U-10 g.chr5:38967502C>T c.1088G>A c.(1087-1089)aGg>aAg p.R363K LIHC 5 38978734 38978734 + Missense_Mutation SNP T T A TCGA-DD-AAD8-01A-11D-A40R-10 TCGA-DD-AAD8-10A-01D-A40U-10 g.chr5:38978734T>A c.772A>T c.(772-774)Act>Tct p.T258S LIHC 5 38978735 38978735 + Nonsense_Mutation SNP A A T TCGA-BC-A10W-01A-11D-A12Z-10 TCGA-BC-A10W-11A-11D-A12Z-10 g.chr5:38978735A>T c.771T>A c.(769-771)taT>taA p.Y257* LIHC 5 39074458 39074458 + Missense_Mutation SNP G G A TCGA-DD-AAE4-01A-11D-A40R-10 TCGA-DD-AAE4-10A-01D-A40U-10 g.chr5:39074458G>A c.22C>T c.(22-24)Cgc>Tgc p.R8C LUAD 5 38942422 38942423 + Frame_Shift_Ins INS - - T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 g.chr5:38942422_38942423insT c.5110_5111insA c.(5110-5112)acafs p.T1704fs LUAD 5 38942936 38942936 + Splice_Site SNP T T C TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr5:38942936T>C c.5051A>G c.(5050-5052)cAa>cGa p.Q1684R LUAD 5 38945134 38945134 + Missense_Mutation SNP T T C TCGA-17-Z053-01A-01W-0747-08 TCGA-17-Z053-11A-01W-0747-08 g.chr5:38945134T>C c.4670A>G c.(4669-4671)cAg>cGg p.Q1557R LUAD 5 38945638 38945638 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr5:38945638C>A c.4588G>T c.(4588-4590)Ggt>Tgt p.G1530C LUAD 5 38947422 38947422 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr5:38947422C>A c.4258G>T c.(4258-4260)Ggt>Tgt p.G1420C LUAD 5 38949913 38949913 + Missense_Mutation SNP G G C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 g.chr5:38949913G>C c.4037C>G c.(4036-4038)tCt>tGt p.S1346C LUAD 5 38950137 38950137 + Silent SNP C C T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 g.chr5:38950137C>T c.3813G>A c.(3811-3813)acG>acA p.T1271T LUAD 5 38950335 38950335 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr5:38950335T>C c.3615A>G c.(3613-3615)gtA>gtG p.V1205V LUAD 5 38950389 38950389 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 g.chr5:38950389C>G c.3561G>C c.(3559-3561)aaG>aaC p.K1187N LUAD 5 38950545 38950545 + Silent SNP C C T TCGA-99-8033-01A-11D-2238-08 TCGA-99-8033-10A-01D-2238-08 g.chr5:38950545C>T c.3405G>A c.(3403-3405)acG>acA p.T1135T LUAD 5 38950710 38950710 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 g.chr5:38950710C>G c.3240G>C c.(3238-3240)aaG>aaC p.K1080N LUAD 5 38953092 38953092 + Silent SNP G G A TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr5:38953092G>A c.2892C>T c.(2890-2892)atC>atT p.I964I LUAD 5 38953162 38953162 + Missense_Mutation SNP T T C TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr5:38953162T>C c.2822A>G c.(2821-2823)aAt>aGt p.N941S LUAD 5 38953591 38953591 + Missense_Mutation SNP T T A TCGA-MP-A4TI-01A-21D-A24P-08 TCGA-MP-A4TI-10A-01D-A24P-08 g.chr5:38953591T>A c.2762A>T c.(2761-2763)aAa>aTa p.K921I LUAD 5 38959321 38959325 + Frame_Shift_Del DEL GGAAA GGAAA - TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 g.chr5:38959321_38959325delGGAAA c.2150_2154delTTTCC c.(2149-2154)ctttccfs p.LS717fs LUAD 5 38959970 38959970 + Silent SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 g.chr5:38959970G>A c.1962C>T c.(1960-1962)acC>acT p.T654T LUAD 5 38963016 38963016 + Nonsense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 g.chr5:38963016G>A c.1528C>T c.(1528-1530)Cag>Tag p.Q510* LUAD 5 38964892 38964892 + Splice_Site SNP A A C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 g.chr5:38964892A>C c.e16+1 LUAD 5 38967476 38967476 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 g.chr5:38967476C>T c.1114G>A c.(1114-1116)Gag>Aag p.E372K LUAD 5 38967494 38967494 + Missense_Mutation SNP C C T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 g.chr5:38967494C>T c.1096G>A c.(1096-1098)Gat>Aat p.D366N LUAD 5 38968050 38968050 + Missense_Mutation SNP C C A TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr5:38968050C>A c.1055G>T c.(1054-1056)aGt>aTt p.S352I LUAD 5 38968063 38968063 + Missense_Mutation SNP C C T TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr5:38968063C>T c.1042G>A c.(1042-1044)Gaa>Aaa p.E348K LUAD 5 38975680 38975680 + Missense_Mutation SNP G G C TCGA-73-4670-01A-01D-1265-08 TCGA-73-4670-11A-01D-1265-08 g.chr5:38975680G>C c.848C>G c.(847-849)gCc>gGc p.A283G LUAD 5 39003687 39003687 + Missense_Mutation SNP C C G TCGA-69-7765-01A-11D-2167-08 TCGA-69-7765-10A-01D-2167-08 g.chr5:39003687C>G c.233G>C c.(232-234)gGc>gCc p.G78A LUAD 5 39021164 39021164 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr5:39021164C>A c.172G>T c.(172-174)Ggc>Tgc p.G58C LUAD 5 39021181 39021181 + Nonsense_Mutation SNP G G T TCGA-97-8172-01A-11D-2284-08 TCGA-97-8172-10A-01D-2284-08 g.chr5:39021181G>T c.155C>A c.(154-156)tCa>tAa p.S52* LUAD 5 39021212 39021212 + Missense_Mutation SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 g.chr5:39021212G>A c.124C>T c.(124-126)Ctc>Ttc p.L42F LUAD 5 39021218 39021218 + Missense_Mutation SNP C C T TCGA-50-5935-01A-11D-1753-08 TCGA-50-5935-11A-01D-1753-08 g.chr5:39021218C>T c.118G>A c.(118-120)Gag>Aag p.E40K LUAD 5 39074222 39074222 + Missense_Mutation SNP G G C TCGA-75-5126-01A-01D-1753-08 TCGA-75-5126-10A-01D-1753-08 g.chr5:39074222G>C c.88C>G c.(88-90)Ctg>Gtg p.L30V LUAD 5 39074257 39074257 + Missense_Mutation SNP C C A TCGA-44-8120-01A-11D-2238-08 TCGA-44-8120-10A-01D-2238-08 g.chr5:39074257C>A c.53G>T c.(52-54)cGg>cTg p.R18L LUSC 5 38944564 38944564 + Missense_Mutation SNP C C G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 g.chr5:38944564C>G c.4897G>C c.(4897-4899)Gag>Cag p.E1633Q LUSC 5 38950055 38950055 + Missense_Mutation SNP T T C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 g.chr5:38950055T>C c.3895A>G c.(3895-3897)Aga>Gga p.R1299G LUSC 5 38960533 38960533 + Silent SNP G G A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 g.chr5:38960533G>A c.1818C>T c.(1816-1818)tgC>tgT p.C606C LUSC 5 38962427 38962427 + Nonsense_Mutation SNP G G A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 g.chr5:38962427G>A c.1705C>T c.(1705-1707)Cag>Tag p.Q569* LUSC 5 38963107 38963107 + Silent SNP G G A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 g.chr5:38963107G>A c.1437C>T c.(1435-1437)ttC>ttT p.F479F OV 5 38947495 38947495 + Silent SNP C C T TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 g.chr5:38947495C>T c.4185G>A c.(4183-4185)ttG>ttA p.L1395L OV 5 38949832 38949832 + Missense_Mutation SNP G G A TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 g.chr5:38949832G>A c.4118C>T c.(4117-4119)tCc>tTc p.S1373F OV 5 38952518 38952518 + Silent SNP T T C TCGA-25-2408-01A-01W-0799-08 TCGA-25-2408-10A-01W-0799-08 g.chr5:38952518T>C c.2907A>G c.(2905-2907)gtA>gtG p.V969V OV 5 39002639 39002639 + Silent SNP A A G TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 g.chr5:39002639A>G c.390T>C c.(388-390)gcT>gcC p.A130A PAAD 5 38942978 38942978 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:38942978C>T c.5009G>A c.(5008-5010)cGg>cAg p.R1670Q PAAD 5 38947536 38947536 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:38947536T>G c.4144A>C c.(4144-4146)Aaa>Caa p.K1382Q PAAD 5 38950004 38950004 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:38950004C>T c.3946G>A c.(3946-3948)Gat>Aat p.D1316N PAAD 5 38950285 38950285 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:38950285G>A c.3665C>T c.(3664-3666)aCa>aTa p.T1222I PAAD 5 38953136 38953136 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:38953136G>A c.2848C>T c.(2848-2850)Cca>Tca p.P950S PAAD 5 38954899 38954899 + Missense_Mutation SNP C C T TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 g.chr5:38954899C>T c.2674G>A c.(2674-2676)Ggc>Agc p.G892S PCPG 5 38950323 38950323 + Silent SNP C C T TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 g.chr5:38950323C>T c.3627G>A c.(3625-3627)acG>acA p.T1209T PRAD 5 38945049 38945049 + Silent SNP T T G TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 g.chr5:38945049T>G c.4755A>C c.(4753-4755)tcA>tcC p.S1585S PRAD 5 38952304 38952304 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr5:38952304G>A c.3121C>T c.(3121-3123)Cca>Tca p.P1041S READ 5 38949902 38949902 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:38949902C>A c.4048G>T c.(4048-4050)Gct>Tct p.A1350S READ 5 38950726 38950726 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:38950726C>T c.3224G>A c.(3223-3225)cGa>cAa p.R1075Q READ 5 38982005 38982005 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:38982005C>A c.717G>T c.(715-717)aaG>aaT p.K239N SARC 5 38962592 38962592 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr5:38962592G>T c.1663C>A c.(1663-1665)Ctt>Att p.L555I SARC 5 38982076 38982076 + Missense_Mutation SNP T T G TCGA-DX-A7EQ-01A-11D-A387-09 TCGA-DX-A7EQ-11B-01D-A38A-09 g.chr5:38982076T>G c.646A>C c.(646-648)Atc>Ctc p.I216L SARC 5 38996934 38996934 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 g.chr5:38996934C>T c.443G>A c.(442-444)cGa>cAa p.R148Q SKCM 5 38942419 38942419 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr5:38942419G>A c.5114C>T c.(5113-5115)tCt>tTt p.S1705F SKCM 5 38945127 38945127 + Silent SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr5:38945127G>A c.4677C>T c.(4675-4677)atC>atT p.I1559I SKCM 5 38946587 38946587 + Missense_Mutation SNP A A T TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr5:38946587A>T c.4382T>A c.(4381-4383)tTt>tAt p.F1461Y SKCM 5 38946588 38946588 + Missense_Mutation SNP A A G TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr5:38946588A>G c.4381T>C c.(4381-4383)Ttt>Ctt p.F1461L SKCM 5 38950648 38950648 + Missense_Mutation SNP G G A TCGA-EE-A20F-06A-21D-A196-08 TCGA-EE-A20F-10A-01D-A198-08 g.chr5:38950648G>A c.3302C>T c.(3301-3303)tCg>tTg p.S1101L SKCM 5 38950648 38950648 + Missense_Mutation SNP G G A TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chr5:38950648G>A c.3302C>T c.(3301-3303)tCg>tTg p.S1101L SKCM 5 38950723 38950723 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chr5:38950723G>A c.3227C>T c.(3226-3228)tCt>tTt p.S1076F SKCM 5 38950758 38950758 + Silent SNP G G A TCGA-FR-A44A-06A-11D-A24R-08 TCGA-FR-A44A-10A-01D-A24R-08 g.chr5:38950758G>A c.3192C>T c.(3190-3192)atC>atT p.I1064I SKCM 5 38950766 38950766 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr5:38950766G>A c.3184C>T c.(3184-3186)Ctt>Ttt p.L1062F SKCM 5 38950766 38950766 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr5:38950766G>A c.3184C>T c.(3184-3186)Ctt>Ttt p.L1062F SKCM 5 38950815 38950815 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:38950815G>A c.3135C>T c.(3133-3135)ttC>ttT p.F1045F SKCM 5 38954908 38954908 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr5:38954908G>A c.2665C>T c.(2665-2667)Cat>Tat p.H889Y SKCM 5 38955747 38955747 + Silent SNP A A G TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr5:38955747A>G c.2559T>C c.(2557-2559)acT>acC p.T853T SKCM 5 38958577 38958577 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 g.chr5:38958577G>A c.2388C>T c.(2386-2388)caC>caT p.H796H SKCM 5 38959321 38959321 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr5:38959321G>A c.2154C>T c.(2152-2154)tcC>tcT p.S718S SKCM 5 38963059 38963059 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:38963059G>A c.1485C>T c.(1483-1485)gaC>gaT p.D495D SKCM 5 38963106 38963106 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 g.chr5:38963106G>A c.1438C>T c.(1438-1440)Cat>Tat p.H480Y SKCM 5 38963125 38963125 + Missense_Mutation SNP C C G TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 g.chr5:38963125C>G c.1419G>C c.(1417-1419)ttG>ttC p.L473F SKCM 5 38964940 38964940 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr5:38964940G>A c.1354C>T c.(1354-1356)Cta>Tta p.L452L SKCM 5 38967280 38967280 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:38967280G>A c.1201C>T c.(1201-1203)Cgt>Tgt p.R401C SKCM 5 38975651 38975651 + Nonsense_Mutation SNP G G A TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr5:38975651G>A c.877C>T c.(877-879)Cga>Tga p.R293*

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 5 39002737 39002737 single base substitution C G exon_variant BLCA-CN 5 39002737 39002737 single base substitution C G missense_variant E82Q 244G>C BLCA-CN 5 39002737 39002737 single base substitution C G missense_variant E98Q 292G>C BLCA-US 5 38945050 38945050 single base substitution G A 3_prime_UTR_variant BLCA-US 5 38945050 38945050 single base substitution G A missense_variant S1585L 4754C>T BLCA-US 5 38945050 38945050 single base substitution G A missense_variant S1609L 4826C>T BLCA-US 5 38945050 38945050 single base substitution G A upstream_gene_variant BLCA-US 5 38947495 38947495 single base substitution C T 3_prime_UTR_variant BLCA-US 5 38947495 38947495 single base substitution C T synonymous_variant L1395L 4185G>A BLCA-US 5 38947495 38947495 single base substitution C T synonymous_variant L1419L 4257G>A BLCA-US 5 38947495 38947495 single base substitution C T upstream_gene_variant BLCA-US 5 38952313 38952313 single base substitution C A 3_prime_UTR_variant BLCA-US 5 38952313 38952313 single base substitution C A downstream_gene_variant BLCA-US 5 38952313 38952313 single base substitution C A stop_gained E1038* 3112G>T BLCA-US 5 38955780 38955780 single base substitution C T 3_prime_UTR_variant BLCA-US 5 38955780 38955780 single base substitution C T exon_variant BLCA-US 5 38955780 38955780 single base substitution C T synonymous_variant L842L 2526G>A BLCA-US 5 38963033 38963033 single base substitution G C 3_prime_UTR_variant BLCA-US 5 38963033 38963033 single base substitution G C downstream_gene_variant BLCA-US 5 38963033 38963033 single base substitution G C missense_variant T504R 1511C>G BLCA-US 5 38963033 38963033 single base substitution G C upstream_gene_variant BLCA-US 5 38966820 38966820 single base substitution G C 3_prime_UTR_variant BLCA-US 5 38966820 38966820 single base substitution G C downstream_gene_variant BLCA-US 5 38966820 38966820 single base substitution G C exon_variant BLCA-US 5 38966820 38966820 single base substitution G C missense_variant L408V 1222C>G BOCA-FR 5 38937011 38937011 single base substitution G A downstream_gene_variant BRCA-EU 5 38934074 38934074 single base substitution G T downstream_gene_variant BRCA-EU 5 38935236 38935236 single base substitution C T downstream_gene_variant BRCA-EU 5 38935910 38935910 single base substitution C T downstream_gene_variant BRCA-EU 5 38936471 38936471 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 38937265 38937265 single base substitution G T downstream_gene_variant BRCA-EU 5 38937757 38937757 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 38938152 38938152 single base substitution C G 3_prime_UTR_variant BRCA-EU 5 38938152 38938152 single base substitution C G downstream_gene_variant BRCA-EU 5 38938494 38938494 single base substitution A T 3_prime_UTR_variant BRCA-EU 5 38938494 38938494 single base substitution A T downstream_gene_variant BRCA-EU 5 38939909 38939909 single base substitution G C 3_prime_UTR_variant BRCA-EU 5 38939909 38939909 single base substitution G C downstream_gene_variant BRCA-EU 5 38941570 38941570 single base substitution C A 3_prime_UTR_variant BRCA-EU 5 38941570 38941570 single base substitution C A downstream_gene_variant BRCA-EU 5 38942431 38942431 single base substitution A G 3_prime_UTR_variant BRCA-EU 5 38942431 38942431 single base substitution A G exon_variant BRCA-EU 5 38942431 38942431 single base substitution A G missense_variant I1701T 5102T>C BRCA-EU 5 38942431 38942431 single base substitution A G missense_variant I1725T 5174T>C BRCA-EU 5 38943615 38943615 deletion of <=200bp A - intron_variant BRCA-EU 5 38943615 38943615 deletion of <=200bp A - upstream_gene_variant BRCA-EU 5 38943883 38943883 single base substitution C G intron_variant BRCA-EU 5 38943883 38943883 single base substitution C G upstream_gene_variant BRCA-EU 5 38944302 38944302 single base substitution G C intron_variant BRCA-EU 5 38944302 38944302 single base substitution G C upstream_gene_variant BRCA-EU 5 38944473 38944473 single base substitution G A intron_variant BRCA-EU 5 38944473 38944473 single base substitution G A upstream_gene_variant BRCA-EU 5 38945621 38945621 single base substitution G A 3_prime_UTR_variant BRCA-EU 5 38945621 38945621 single base substitution G A synonymous_variant N1535N 4605C>T BRCA-EU 5 38945621 38945621 single base substitution G A synonymous_variant N1559N 4677C>T BRCA-EU 5 38945621 38945621 single base substitution G A upstream_gene_variant BRCA-EU 5 38946079 38946079 single base substitution A G intron_variant BRCA-EU 5 38946079 38946079 single base substitution A G upstream_gene_variant BRCA-EU 5 38948367 38948367 single base substitution T A intron_variant BRCA-EU 5 38949837 38949837 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 5 38949837 38949837 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 38949837 38949837 deletion of <=200bp A - frameshift_variant F1371 BRCA-EU 5 38950340 38950340 single base substitution C T 3_prime_UTR_variant BRCA-EU 5 38950340 38950340 single base substitution C T downstream_gene_variant BRCA-EU 5 38950340 38950340 single base substitution C T missense_variant V1204I 3610G>A BRCA-EU 5 38950910 38950910 single base substitution T G downstream_gene_variant BRCA-EU 5 38950910 38950910 single base substitution T G intron_variant BRCA-EU 5 38951706 38951706 single base substitution T C downstream_gene_variant BRCA-EU 5 38951706 38951706 single base substitution T C intron_variant BRCA-EU 5 38952430 38952430 single base substitution G A 3_prime_UTR_variant BRCA-EU 5 38952430 38952430 single base substitution G A downstream_gene_variant BRCA-EU 5 38952430 38952430 single base substitution G A missense_variant H999Y 2995C>T BRCA-EU 5 38953580 38953580 single base substitution C T 3_prime_UTR_variant BRCA-EU 5 38953580 38953580 single base substitution C T downstream_gene_variant BRCA-EU 5 38953580 38953580 single base substitution C T missense_variant A925T 2773G>A BRCA-EU 5 38953611 38953611 single base substitution C T 3_prime_UTR_variant BRCA-EU 5 38953611 38953611 single base substitution C T downstream_gene_variant BRCA-EU 5 38953611 38953611 single base substitution C T synonymous_variant L914L 2742G>A BRCA-EU 5 38954188 38954188 single base substitution G C downstream_gene_variant BRCA-EU 5 38954188 38954188 single base substitution G C intron_variant BRCA-EU 5 38956804 38956804 single base substitution T C intron_variant BRCA-EU 5 38957225 38957225 single base substitution C T intron_variant BRCA-EU 5 38959374 38959374 single base substitution T C 3_prime_UTR_variant BRCA-EU 5 38959374 38959374 single base substitution T C downstream_gene_variant BRCA-EU 5 38959374 38959374 single base substitution T C exon_variant BRCA-EU 5 38959374 38959374 single base substitution T C missense_variant T701A 2101A>G BRCA-EU 5 38961252 38961252 insertion of <=200bp - A downstream_gene_variant BRCA-EU 5 38961252 38961252 insertion of <=200bp - A intron_variant BRCA-EU 5 38961252 38961252 insertion of <=200bp - A upstream_gene_variant BRCA-EU 5 38962116 38962116 single base substitution C T downstream_gene_variant BRCA-EU 5 38962116 38962116 single base substitution C T intron_variant BRCA-EU 5 38962116 38962116 single base substitution C T upstream_gene_variant BRCA-EU 5 38964812 38964812 insertion of <=200bp - T downstream_gene_variant BRCA-EU 5 38964812 38964812 insertion of <=200bp - T intron_variant BRCA-EU 5 38965134 38965134 single base substitution A G downstream_gene_variant BRCA-EU 5 38965134 38965134 single base substitution A G intron_variant BRCA-EU 5 38965310 38965311 deletion of <=200bp CA - downstream_gene_variant BRCA-EU 5 38965310 38965311 deletion of <=200bp CA - intron_variant BRCA-EU 5 38965773 38965773 single base substitution G C downstream_gene_variant BRCA-EU 5 38965773 38965773 single base substitution G C intron_variant BRCA-EU 5 38965781 38965781 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 38965781 38965781 deletion of <=200bp A - intron_variant BRCA-EU 5 38967052 38967052 single base substitution G A downstream_gene_variant BRCA-EU 5 38967052 38967052 single base substitution G A exon_variant BRCA-EU 5 38967052 38967052 single base substitution G A intron_variant BRCA-EU 5 38967931 38967931 single base substitution G A downstream_gene_variant BRCA-EU 5 38967931 38967931 single base substitution G A intron_variant BRCA-EU 5 38967932 38967932 single base substitution C G downstream_gene_variant BRCA-EU 5 38967932 38967932 single base substitution C G intron_variant BRCA-EU 5 38968921 38968921 single base substitution C A downstream_gene_variant BRCA-EU 5 38968921 38968921 single base substitution C A intron_variant BRCA-EU 5 38969029 38969029 single base substitution G C downstream_gene_variant BRCA-EU 5 38969029 38969029 single base substitution G C intron_variant BRCA-EU 5 38969230 38969230 single base substitution G A downstream_gene_variant BRCA-EU 5 38969230 38969230 single base substitution G A intron_variant BRCA-EU 5 38970093 38970093 single base substitution T G exon_variant BRCA-EU 5 38970093 38970093 single base substitution T G intron_variant BRCA-EU 5 38971217 38971217 single base substitution C G exon_variant BRCA-EU 5 38971217 38971217 single base substitution C G intron_variant BRCA-EU 5 38971217 38971217 single base substitution C G upstream_gene_variant BRCA-EU 5 38972570 38972570 single base substitution C T intron_variant BRCA-EU 5 38972570 38972570 single base substitution C T upstream_gene_variant BRCA-EU 5 38972573 38972573 single base substitution A G intron_variant BRCA-EU 5 38972573 38972573 single base substitution A G upstream_gene_variant BRCA-EU 5 38973378 38973378 deletion of <=200bp C - intron_variant BRCA-EU 5 38973378 38973378 deletion of <=200bp C - upstream_gene_variant BRCA-EU 5 38973910 38973910 single base substitution C G intron_variant BRCA-EU 5 38973910 38973910 single base substitution C G upstream_gene_variant BRCA-EU 5 38976236 38976236 single base substitution A G downstream_gene_variant BRCA-EU 5 38976236 38976236 single base substitution A G intron_variant BRCA-EU 5 38976236 38976236 single base substitution A G upstream_gene_variant BRCA-EU 5 38978502 38978502 single base substitution T A downstream_gene_variant BRCA-EU 5 38978502 38978502 single base substitution T A intron_variant BRCA-EU 5 38979085 38979085 single base substitution G C downstream_gene_variant BRCA-EU 5 38979085 38979085 single base substitution G C intron_variant BRCA-EU 5 38980349 38980349 single base substitution C G downstream_gene_variant BRCA-EU 5 38980349 38980349 single base substitution C G intron_variant BRCA-EU 5 38982746 38982746 single base substitution C T intron_variant BRCA-EU 5 38983909 38983909 deletion of <=200bp A - intron_variant BRCA-EU 5 38984411 38984411 single base substitution C T intron_variant BRCA-EU 5 38984450 38984450 single base substitution C G intron_variant BRCA-EU 5 38984759 38984759 deletion of <=200bp T - intron_variant BRCA-EU 5 38985072 38985072 single base substitution T A intron_variant BRCA-EU 5 38986050 38986050 single base substitution C T intron_variant BRCA-EU 5 38986106 38986106 single base substitution T C intron_variant BRCA-EU 5 38988204 38988204 single base substitution G A intron_variant BRCA-EU 5 38988724 38988724 single base substitution C T intron_variant BRCA-EU 5 38988827 38988830 deletion of <=200bp AGAC - intron_variant BRCA-EU 5 38990347 38990347 single base substitution G A intron_variant BRCA-EU 5 38991262 38991262 single base substitution C T intron_variant BRCA-EU 5 38992282 38992282 single base substitution C T intron_variant BRCA-EU 5 38992325 38992325 single base substitution T C intron_variant BRCA-EU 5 38993201 38993201 single base substitution G A intron_variant BRCA-EU 5 38993364 38993364 single base substitution C G intron_variant BRCA-EU 5 38994399 38994399 single base substitution A G intron_variant BRCA-EU 5 38994694 38994694 single base substitution G A intron_variant BRCA-EU 5 38996027 38996027 single base substitution C A intron_variant BRCA-EU 5 38997062 38997062 single base substitution A C intron_variant BRCA-EU 5 38997194 38997194 single base substitution T C intron_variant BRCA-EU 5 38997288 38997288 deletion of <=200bp A - intron_variant BRCA-EU 5 38998334 38998334 single base substitution C T intron_variant BRCA-EU 5 38999957 38999957 single base substitution G C intron_variant BRCA-EU 5 39000293 39000293 single base substitution G C intron_variant BRCA-EU 5 39000931 39000931 single base substitution T C intron_variant BRCA-EU 5 39001218 39001218 single base substitution G A intron_variant BRCA-EU 5 39002428 39002428 single base substitution G T intron_variant BRCA-EU 5 39002667 39002667 single base substitution A G exon_variant BRCA-EU 5 39002667 39002667 single base substitution A G missense_variant L105P 314T>C BRCA-EU 5 39002667 39002667 single base substitution A G missense_variant L121P 362T>C BRCA-EU 5 39002684 39002684 single base substitution A T exon_variant BRCA-EU 5 39002684 39002684 single base substitution A T missense_variant S115R 345T>A BRCA-EU 5 39002684 39002684 single base substitution A T missense_variant S99R 297T>A BRCA-EU 5 39003101 39003101 single base substitution A G intron_variant BRCA-EU 5 39003126 39003126 single base substitution C T intron_variant BRCA-EU 5 39003163 39003163 single base substitution C T intron_variant BRCA-EU 5 39003351 39003351 single base substitution A C intron_variant BRCA-EU 5 39003603 39003603 deletion of <=200bp A - intron_variant BRCA-EU 5 39007211 39007211 deletion of <=200bp A - intron_variant BRCA-EU 5 39007402 39007402 single base substitution G A intron_variant BRCA-EU 5 39007403 39007403 single base substitution C G intron_variant BRCA-EU 5 39009290 39009290 single base substitution C A intron_variant BRCA-EU 5 39009724 39009724 single base substitution C G intron_variant BRCA-EU 5 39010469 39010469 single base substitution C T intron_variant BRCA-EU 5 39010713 39010713 single base substitution G T intron_variant BRCA-EU 5 39010825 39010825 single base substitution C G intron_variant BRCA-EU 5 39012581 39012581 single base substitution A G intron_variant BRCA-EU 5 39012699 39012699 single base substitution T A intron_variant BRCA-EU 5 39013091 39013091 single base substitution T C intron_variant BRCA-EU 5 39013490 39013490 single base substitution C G intron_variant BRCA-EU 5 39015526 39015526 single base substitution A G intron_variant BRCA-EU 5 39015819 39015819 single base substitution T A intron_variant BRCA-EU 5 39017068 39017068 single base substitution T C intron_variant BRCA-EU 5 39017187 39017187 single base substitution T C intron_variant BRCA-EU 5 39017502 39017529 deletion of <=200bp TTAAAGATTTGACATTATCTCACCACCA - intron_variant BRCA-EU 5 39017648 39017648 single base substitution A T intron_variant BRCA-EU 5 39017649 39017649 single base substitution A T intron_variant BRCA-EU 5 39020565 39020565 deletion of <=200bp A - intron_variant BRCA-EU 5 39022058 39022058 single base substitution G A intron_variant BRCA-EU 5 39022910 39022910 single base substitution G A intron_variant BRCA-EU 5 39023245 39023245 single base substitution C G intron_variant BRCA-EU 5 39024696 39024696 single base substitution T A intron_variant BRCA-EU 5 39024820 39024820 single base substitution A C intron_variant BRCA-EU 5 39025463 39025463 single base substitution C T intron_variant BRCA-EU 5 39027639 39027639 single base substitution A G intron_variant BRCA-EU 5 39031842 39031842 single base substitution T C intron_variant BRCA-EU 5 39032434 39032434 single base substitution C G intron_variant BRCA-EU 5 39032797 39032797 single base substitution G A intron_variant BRCA-EU 5 39032982 39032982 single base substitution C A intron_variant BRCA-EU 5 39034488 39034488 single base substitution G A intron_variant BRCA-EU 5 39034752 39034752 single base substitution G A intron_variant BRCA-EU 5 39034877 39034877 single base substitution C A intron_variant BRCA-EU 5 39035596 39035596 single base substitution G A intron_variant BRCA-EU 5 39035882 39035882 single base substitution G A intron_variant BRCA-EU 5 39036450 39036450 single base substitution G A intron_variant BRCA-EU 5 39037836 39037836 single base substitution T C intron_variant BRCA-EU 5 39038851 39038851 single base substitution C T intron_variant BRCA-EU 5 39041313 39041313 single base substitution T C intron_variant BRCA-EU 5 39041326 39041326 single base substitution G A intron_variant BRCA-EU 5 39041657 39041657 single base substitution T A intron_variant BRCA-EU 5 39041907 39041907 single base substitution C T intron_variant BRCA-EU 5 39042125 39042125 single base substitution C A intron_variant BRCA-EU 5 39043480 39043480 single base substitution C A intron_variant BRCA-EU 5 39043862 39043862 single base substitution T C intron_variant BRCA-EU 5 39045023 39045023 single base substitution T C intron_variant BRCA-EU 5 39045451 39045451 single base substitution T G intron_variant BRCA-EU 5 39045971 39045971 single base substitution G C intron_variant BRCA-EU 5 39046302 39046302 single base substitution A G intron_variant BRCA-EU 5 39046732 39046732 single base substitution G A intron_variant BRCA-EU 5 39048976 39048976 single base substitution C T intron_variant BRCA-EU 5 39049172 39049172 deletion of <=200bp A - intron_variant BRCA-EU 5 39050056 39050056 single base substitution G A intron_variant BRCA-EU 5 39050692 39050692 single base substitution G A intron_variant BRCA-EU 5 39050913 39050913 single base substitution G C intron_variant BRCA-EU 5 39051426 39051429 deletion of <=200bp AAAT - intron_variant BRCA-EU 5 39051634 39051634 single base substitution G T intron_variant BRCA-EU 5 39052242 39052242 single base substitution G A intron_variant BRCA-EU 5 39052435 39052435 single base substitution G C intron_variant BRCA-EU 5 39052529 39052529 single base substitution G A intron_variant BRCA-EU 5 39053616 39053616 single base substitution A G intron_variant BRCA-EU 5 39054957 39054957 single base substitution T G intron_variant BRCA-EU 5 39055338 39055338 single base substitution C G intron_variant BRCA-EU 5 39055528 39055528 single base substitution C A intron_variant BRCA-EU 5 39055600 39055600 single base substitution G C intron_variant BRCA-EU 5 39056745 39056745 single base substitution G C intron_variant BRCA-EU 5 39058103 39058103 single base substitution A G intron_variant BRCA-EU 5 39058661 39058661 single base substitution G T intron_variant BRCA-EU 5 39058720 39058720 single base substitution A C intron_variant BRCA-EU 5 39061216 39061216 single base substitution G C intron_variant BRCA-EU 5 39061472 39061472 single base substitution C G intron_variant BRCA-EU 5 39062520 39062520 deletion of <=200bp T - intron_variant BRCA-EU 5 39063174 39063174 single base substitution G C intron_variant BRCA-EU 5 39063948 39063948 single base substitution A G intron_variant BRCA-EU 5 39064418 39064418 single base substitution A C intron_variant BRCA-EU 5 39065000 39065000 single base substitution G T intron_variant BRCA-EU 5 39065178 39065178 single base substitution C G intron_variant BRCA-EU 5 39065692 39065692 single base substitution C T intron_variant BRCA-EU 5 39065922 39065922 single base substitution G C intron_variant BRCA-EU 5 39066338 39066338 single base substitution C G intron_variant BRCA-EU 5 39066603 39066603 single base substitution T C intron_variant BRCA-EU 5 39067278 39067278 single base substitution G T intron_variant BRCA-EU 5 39067748 39067748 single base substitution C T intron_variant BRCA-EU 5 39071740 39071740 single base substitution C A intron_variant BRCA-EU 5 39074578 39074578 single base substitution C T upstream_gene_variant BRCA-EU 5 39076275 39076275 single base substitution T C upstream_gene_variant BRCA-EU 5 39076415 39076415 single base substitution C G upstream_gene_variant BRCA-EU 5 39077061 39077061 single base substitution A T upstream_gene_variant BRCA-EU 5 39078918 39078918 deletion of <=200bp T - upstream_gene_variant BRCA-EU 5 39078957 39078957 deletion of <=200bp T - upstream_gene_variant BRCA-FR 5 38935910 38935910 single base substitution C T downstream_gene_variant BRCA-FR 5 38946456 38946456 single base substitution G A intron_variant BRCA-FR 5 38946456 38946456 single base substitution G A upstream_gene_variant BRCA-FR 5 38952013 38952013 single base substitution C G downstream_gene_variant BRCA-FR 5 38952013 38952013 single base substitution C G intron_variant BRCA-FR 5 38962116 38962116 single base substitution C T downstream_gene_variant BRCA-FR 5 38962116 38962116 single base substitution C T intron_variant BRCA-FR 5 38962116 38962116 single base substitution C T upstream_gene_variant BRCA-FR 5 38976838 38976838 single base substitution C T downstream_gene_variant BRCA-FR 5 38976838 38976838 single base substitution C T intron_variant BRCA-FR 5 38976838 38976838 single base substitution C T upstream_gene_variant BRCA-FR 5 38990347 38990347 single base substitution G A intron_variant BRCA-FR 5 38992282 38992282 single base substitution C T intron_variant BRCA-FR 5 38994694 38994694 single base substitution G A intron_variant BRCA-FR 5 38997194 38997194 single base substitution T C intron_variant BRCA-FR 5 38998334 38998334 single base substitution C T intron_variant BRCA-FR 5 39000293 39000293 single base substitution G C intron_variant BRCA-FR 5 39017068 39017068 single base substitution T C intron_variant BRCA-FR 5 39032797 39032797 single base substitution G A intron_variant BRCA-FR 5 39039454 39039454 single base substitution C T intron_variant BRCA-FR 5 39041823 39041823 single base substitution G T intron_variant BRCA-FR 5 39045971 39045971 single base substitution G C intron_variant BRCA-FR 5 39050056 39050056 single base substitution G A intron_variant BRCA-FR 5 39052242 39052242 single base substitution G A intron_variant BRCA-FR 5 39055338 39055338 single base substitution C G intron_variant BRCA-FR 5 39058854 39058854 single base substitution A T intron_variant BRCA-FR 5 39065692 39065692 single base substitution C T intron_variant BRCA-FR 5 39067278 39067278 single base substitution G T intron_variant BRCA-FR 5 39070500 39070500 single base substitution A C intron_variant BRCA-UK 5 38948367 38948367 single base substitution T A intron_variant BRCA-UK 5 38954953 38954953 single base substitution G A 3_prime_UTR_variant BRCA-UK 5 38954953 38954953 single base substitution G A exon_variant BRCA-UK 5 38954953 38954953 single base substitution G A missense_variant P874S 2620C>T BRCA-UK 5 38958934 38958934 single base substitution C G downstream_gene_variant BRCA-UK 5 38958934 38958934 single base substitution C G splice_acceptor_variant BRCA-UK 5 38965773 38965773 single base substitution G C downstream_gene_variant BRCA-UK 5 38965773 38965773 single base substitution G C intron_variant BRCA-UK 5 39003351 39003351 single base substitution A C intron_variant BRCA-UK 5 39038851 39038851 single base substitution C T intron_variant BRCA-UK 5 39050913 39050913 single base substitution G C intron_variant BRCA-UK 5 39057382 39057382 single base substitution C T intron_variant BRCA-UK 5 39057390 39057390 single base substitution C T intron_variant BRCA-UK 5 39065000 39065000 single base substitution G T intron_variant BRCA-US 5 38933388 38933388 single base substitution G T downstream_gene_variant BRCA-US 5 38944601 38944601 single base substitution G C 3_prime_UTR_variant BRCA-US 5 38944601 38944601 single base substitution G C synonymous_variant V1620V 4860C>G BRCA-US 5 38944601 38944601 single base substitution G C synonymous_variant V1644V 4932C>G BRCA-US 5 38944601 38944601 single base substitution G C upstream_gene_variant BRCA-US 5 38944651 38944651 single base substitution C T 3_prime_UTR_variant BRCA-US 5 38944651 38944651 single base substitution C T missense_variant D1604N 4810G>A BRCA-US 5 38944651 38944651 single base substitution C T missense_variant D1628N 4882G>A BRCA-US 5 38944651 38944651 single base substitution C T upstream_gene_variant BRCA-US 5 38947460 38947460 single base substitution G A 3_prime_UTR_variant BRCA-US 5 38947460 38947460 single base substitution G A missense_variant S1407F 4220C>T BRCA-US 5 38947460 38947460 single base substitution G A missense_variant S1431F 4292C>T BRCA-US 5 38947460 38947460 single base substitution G A upstream_gene_variant BRCA-US 5 38947476 38947476 single base substitution T G 3_prime_UTR_variant BRCA-US 5 38947476 38947476 single base substitution T G missense_variant T1402P 4204A>C BRCA-US 5 38947476 38947476 single base substitution T G missense_variant T1426P 4276A>C BRCA-US 5 38947476 38947476 single base substitution T G upstream_gene_variant BRCA-US 5 38949951 38949951 single base substitution C T 3_prime_UTR_variant BRCA-US 5 38949951 38949951 single base substitution C T downstream_gene_variant BRCA-US 5 38949951 38949951 single base substitution C T synonymous_variant L1333L 3999G>A BRCA-US 5 38952359 38952359 single base substitution T C 3_prime_UTR_variant BRCA-US 5 38952359 38952359 single base substitution T C downstream_gene_variant BRCA-US 5 38952359 38952359 single base substitution T C synonymous_variant L1022L 3066A>G BRCA-US 5 38957828 38957828 single base substitution G A 3_prime_UTR_variant BRCA-US 5 38957828 38957828 single base substitution G A exon_variant BRCA-US 5 38957828 38957828 single base substitution G A missense_variant L809F 2425C>T BRCA-US 5 38958580 38958580 single base substitution G A 3_prime_UTR_variant BRCA-US 5 38958580 38958580 single base substitution G A downstream_gene_variant BRCA-US 5 38958580 38958580 single base substitution G A exon_variant BRCA-US 5 38958580 38958580 single base substitution G A synonymous_variant S795S 2385C>T BRCA-US 5 39021230 39021230 single base substitution C T exon_variant BRCA-US 5 39021230 39021230 single base substitution C T missense_variant D20N 58G>A BRCA-US 5 39021230 39021230 single base substitution C T missense_variant D36N 106G>A BTCA-JP 5 38942489 38942489 single base substitution A C intron_variant BTCA-JP 5 38949552 38949552 deletion of <=200bp A - intron_variant BTCA-JP 5 38950509 38950509 single base substitution A G 3_prime_UTR_variant BTCA-JP 5 38950509 38950509 single base substitution A G downstream_gene_variant BTCA-JP 5 38950509 38950509 single base substitution A G synonymous_variant F1147F 3441T>C BTCA-JP 5 38950691 38950691 single base substitution A C 3_prime_UTR_variant BTCA-JP 5 38950691 38950691 single base substitution A C downstream_gene_variant BTCA-JP 5 38950691 38950691 single base substitution A C missense_variant F1087V 3259T>G BTCA-JP 5 38954947 38954947 single base substitution C T 3_prime_UTR_variant BTCA-JP 5 38954947 38954947 single base substitution C T exon_variant BTCA-JP 5 38954947 38954947 single base substitution C T missense_variant V876I 2626G>A BTCA-JP 5 38960000 38960000 single base substitution T C 3_prime_UTR_variant BTCA-JP 5 38960000 38960000 single base substitution T C downstream_gene_variant BTCA-JP 5 38960000 38960000 single base substitution T C synonymous_variant R644R 1932A>G BTCA-JP 5 38960000 38960000 single base substitution T C upstream_gene_variant BTCA-JP 5 38966920 38966920 single base substitution A T downstream_gene_variant BTCA-JP 5 38966920 38966920 single base substitution A T exon_variant BTCA-JP 5 38966920 38966920 single base substitution A T intron_variant BTCA-JP 5 39074468 39074468 single base substitution G A exon_variant BTCA-JP 5 39074468 39074468 single base substitution G A synonymous_variant I4I 12C>T CESC-US 5 38954960 38954960 single base substitution T C 3_prime_UTR_variant CESC-US 5 38954960 38954960 single base substitution T C exon_variant CESC-US 5 38954960 38954960 single base substitution T C synonymous_variant L871L 2613A>G CESC-US 5 38957799 38957799 single base substitution C T 3_prime_UTR_variant CESC-US 5 38957799 38957799 single base substitution C T exon_variant CESC-US 5 38957799 38957799 single base substitution C T synonymous_variant L818L 2454G>A CESC-US 5 38957801 38957801 single base substitution G C 3_prime_UTR_variant CESC-US 5 38957801 38957801 single base substitution G C exon_variant CESC-US 5 38957801 38957801 single base substitution G C missense_variant L818V 2452C>G CESC-US 5 38957826 38957826 single base substitution G A 3_prime_UTR_variant CESC-US 5 38957826 38957826 single base substitution G A exon_variant CESC-US 5 38957826 38957826 single base substitution G A synonymous_variant L809L 2427C>T CESC-US 5 38963010 38963010 single base substitution G T 3_prime_UTR_variant CESC-US 5 38963010 38963010 single base substitution G T downstream_gene_variant CESC-US 5 38963010 38963010 single base substitution G T missense_variant L512I 1534C>A CESC-US 5 38963010 38963010 single base substitution G T upstream_gene_variant CESC-US 5 38963098 38963098 single base substitution C T 3_prime_UTR_variant CESC-US 5 38963098 38963098 single base substitution C T downstream_gene_variant CESC-US 5 38963098 38963098 single base substitution C T exon_variant CESC-US 5 38963098 38963098 single base substitution C T missense_variant M482I 1446G>A CESC-US 5 38963098 38963098 single base substitution C T upstream_gene_variant CESC-US 5 38975684 38975684 single base substitution G C 3_prime_UTR_variant CESC-US 5 38975684 38975684 single base substitution G C exon_variant CESC-US 5 38975684 38975684 single base substitution G C missense_variant L282V 844C>G CESC-US 5 38975684 38975684 single base substitution G C upstream_gene_variant CLLE-ES 5 38942996 38942996 single base substitution G A 3_prime_UTR_variant CLLE-ES 5 38942996 38942996 single base substitution G A exon_variant CLLE-ES 5 38942996 38942996 single base substitution G A missense_variant T1664I 4991C>T CLLE-ES 5 38942996 38942996 single base substitution G A missense_variant T1688I 5063C>T CLLE-ES 5 38980893 38980893 single base substitution A C downstream_gene_variant CLLE-ES 5 38980893 38980893 single base substitution A C intron_variant CLLE-ES 5 39007300 39007300 single base substitution G A intron_variant CLLE-ES 5 39020896 39020896 single base substitution T C intron_variant CLLE-ES 5 39075461 39075461 single base substitution A G upstream_gene_variant CLLE-ES 5 39079503 39079503 single base substitution C A upstream_gene_variant COAD-US 5 38933119 38933119 single base substitution T C downstream_gene_variant COAD-US 5 38933486 38933486 single base substitution G A downstream_gene_variant COAD-US 5 38946606 38946606 single base substitution C T 3_prime_UTR_variant COAD-US 5 38946606 38946606 single base substitution C T missense_variant D1455N 4363G>A COAD-US 5 38946606 38946606 single base substitution C T missense_variant D1479N 4435G>A COAD-US 5 38946606 38946606 single base substitution C T upstream_gene_variant COAD-US 5 38946657 38946657 deletion of <=200bp A - splice_region_variant COAD-US 5 38946657 38946657 deletion of <=200bp A - upstream_gene_variant COAD-US 5 38950099 38950099 single base substitution G A 3_prime_UTR_variant COAD-US 5 38950099 38950099 single base substitution G A downstream_gene_variant COAD-US 5 38950099 38950099 single base substitution G A missense_variant S1284L 3851C>T COAD-US 5 38950546 38950546 single base substitution G A 3_prime_UTR_variant COAD-US 5 38950546 38950546 single base substitution G A downstream_gene_variant COAD-US 5 38950546 38950546 single base substitution G A missense_variant T1135M 3404C>T COAD-US 5 38953610 38953610 single base substitution C A 3_prime_UTR_variant COAD-US 5 38953610 38953610 single base substitution C A downstream_gene_variant COAD-US 5 38953610 38953610 single base substitution C A missense_variant D915Y 2743G>T COAD-US 5 38954913 38954913 single base substitution A G 3_prime_UTR_variant COAD-US 5 38954913 38954913 single base substitution A G exon_variant COAD-US 5 38954913 38954913 single base substitution A G missense_variant V887A 2660T>C COAD-US 5 38960005 38960005 single base substitution C T 3_prime_UTR_variant COAD-US 5 38960005 38960005 single base substitution C T downstream_gene_variant COAD-US 5 38960005 38960005 single base substitution C T missense_variant E643K 1927G>A COAD-US 5 38960005 38960005 single base substitution C T upstream_gene_variant COAD-US 5 38968126 38968126 single base substitution G C 3_prime_UTR_variant COAD-US 5 38968126 38968126 single base substitution G C downstream_gene_variant COAD-US 5 38968126 38968126 single base substitution G C exon_variant COAD-US 5 38968126 38968126 single base substitution G C missense_variant L327V 979C>G COAD-US 5 38982000 38982000 single base substitution C T exon_variant COAD-US 5 38982000 38982000 single base substitution C T missense_variant R241Q 722G>A COAD-US 5 38982000 38982000 single base substitution C T synonymous_variant ?225 COCA-CN 5 38933511 38933511 single base substitution A G downstream_gene_variant COCA-CN 5 38933555 38933555 single base substitution C T downstream_gene_variant COCA-CN 5 38942551 38942551 single base substitution C T intron_variant COCA-CN 5 38945768 38945768 single base substitution C A intron_variant COCA-CN 5 38945768 38945768 single base substitution C A missense_variant Q1486H 4458G>T COCA-CN 5 38945768 38945768 single base substitution C A missense_variant Q1510H 4530G>T COCA-CN 5 38945768 38945768 single base substitution C A upstream_gene_variant COCA-CN 5 38950142 38950142 single base substitution A G 3_prime_UTR_variant COCA-CN 5 38950142 38950142 single base substitution A G downstream_gene_variant COCA-CN 5 38950142 38950142 single base substitution A G synonymous_variant L1270L 3808T>C COCA-CN 5 38950562 38950562 single base substitution G A 3_prime_UTR_variant COCA-CN 5 38950562 38950562 single base substitution G A downstream_gene_variant COCA-CN 5 38950562 38950562 single base substitution G A stop_gained R1130* 3388C>T COCA-CN 5 38952244 38952244 single base substitution C A downstream_gene_variant COCA-CN 5 38952244 38952244 single base substitution C A intron_variant COCA-CN 5 38958530 38958530 single base substitution T G downstream_gene_variant COCA-CN 5 38958530 38958530 single base substitution T G intron_variant COCA-CN 5 38958711 38958711 single base substitution T C downstream_gene_variant COCA-CN 5 38958711 38958711 single base substitution T C intron_variant COCA-CN 5 38958968 38958968 single base substitution A C downstream_gene_variant COCA-CN 5 38958968 38958968 single base substitution A C intron_variant COCA-CN 5 38959343 38959343 single base substitution C A 3_prime_UTR_variant COCA-CN 5 38959343 38959343 single base substitution C A downstream_gene_variant COCA-CN 5 38959343 38959343 single base substitution C A exon_variant COCA-CN 5 38959343 38959343 single base substitution C A missense_variant G711V 2132G>T COCA-CN 5 38966893 38966893 single base substitution A T downstream_gene_variant COCA-CN 5 38966893 38966893 single base substitution A T intron_variant COCA-CN 5 38966920 38966920 single base substitution A T downstream_gene_variant COCA-CN 5 38966920 38966920 single base substitution A T exon_variant COCA-CN 5 38966920 38966920 single base substitution A T intron_variant COCA-CN 5 38967437 38967437 single base substitution A G downstream_gene_variant COCA-CN 5 38967437 38967437 single base substitution A G splice_donor_variant COCA-CN 5 38968578 38968578 single base substitution C A downstream_gene_variant COCA-CN 5 38968578 38968578 single base substitution C A intron_variant COCA-CN 5 38972885 38972885 single base substitution T C intron_variant COCA-CN 5 38972885 38972885 single base substitution T C upstream_gene_variant COCA-CN 5 38982058 38982058 single base substitution G A exon_variant COCA-CN 5 38982058 38982058 single base substitution G A stop_gained R206* 616C>T COCA-CN 5 38982058 38982058 single base substitution G A stop_gained R222* 664C>T COCA-CN 5 39021369 39021369 single base substitution G A intron_variant COCA-CN 5 39038708 39038708 single base substitution A T intron_variant COCA-CN 5 39040042 39040042 single base substitution C T intron_variant COCA-CN 5 39070562 39070562 single base substitution A T intron_variant COCA-CN 5 39077871 39077871 single base substitution T A upstream_gene_variant EOPC-DE 5 39047911 39047911 single base substitution A G intron_variant EOPC-DE 5 39064817 39064817 single base substitution A C intron_variant ESAD-UK 5 38938095 38938095 single base substitution C T 3_prime_UTR_variant ESAD-UK 5 38938095 38938095 single base substitution C T downstream_gene_variant ESAD-UK 5 38939699 38939699 insertion of <=200bp - A 3_prime_UTR_variant ESAD-UK 5 38939699 38939699 insertion of <=200bp - A downstream_gene_variant ESAD-UK 5 38940237 38940237 single base substitution A C 3_prime_UTR_variant ESAD-UK 5 38940237 38940237 single base substitution A C downstream_gene_variant ESAD-UK 5 38940347 38940348 deletion of <=200bp GT - 3_prime_UTR_variant ESAD-UK 5 38940347 38940348 deletion of <=200bp GT - downstream_gene_variant ESAD-UK 5 38941529 38941529 single base substitution C A 3_prime_UTR_variant ESAD-UK 5 38941529 38941529 single base substitution C A downstream_gene_variant ESAD-UK 5 38941900 38941900 single base substitution T G 3_prime_UTR_variant ESAD-UK 5 38941900 38941900 single base substitution T G downstream_gene_variant ESAD-UK 5 38946891 38946891 single base substitution C T intron_variant ESAD-UK 5 38946891 38946891 single base substitution C T upstream_gene_variant ESAD-UK 5 38949214 38949214 single base substitution G T intron_variant ESAD-UK 5 38949976 38949976 single base substitution C G 3_prime_UTR_variant ESAD-UK 5 38949976 38949976 single base substitution C G downstream_gene_variant ESAD-UK 5 38949976 38949976 single base substitution C G missense_variant R1325T 3974G>C ESAD-UK 5 38953977 38953977 single base substitution G A downstream_gene_variant ESAD-UK 5 38953977 38953977 single base substitution G A intron_variant ESAD-UK 5 38955594 38955594 single base substitution A C intron_variant ESAD-UK 5 38959376 38959376 single base substitution A C 3_prime_UTR_variant ESAD-UK 5 38959376 38959376 single base substitution A C downstream_gene_variant ESAD-UK 5 38959376 38959376 single base substitution A C exon_variant ESAD-UK 5 38959376 38959376 single base substitution A C missense_variant L700R 2099T>G ESAD-UK 5 38959441 38959441 insertion of <=200bp - C downstream_gene_variant ESAD-UK 5 38959441 38959441 insertion of <=200bp - C intron_variant ESAD-UK 5 38959441 38959441 insertion of <=200bp - C upstream_gene_variant ESAD-UK 5 38959797 38959797 single base substitution A G downstream_gene_variant ESAD-UK 5 38959797 38959797 single base substitution A G intron_variant ESAD-UK 5 38959797 38959797 single base substitution A G upstream_gene_variant ESAD-UK 5 38959896 38959896 single base substitution C G 3_prime_UTR_variant ESAD-UK 5 38959896 38959896 single base substitution C G downstream_gene_variant ESAD-UK 5 38959896 38959896 single base substitution C G missense_variant C679S 2036G>C ESAD-UK 5 38959896 38959896 single base substitution C G upstream_gene_variant ESAD-UK 5 38961237 38961237 insertion of <=200bp - A downstream_gene_variant ESAD-UK 5 38961237 38961237 insertion of <=200bp - A intron_variant ESAD-UK 5 38961237 38961237 insertion of <=200bp - A upstream_gene_variant ESAD-UK 5 38964248 38964248 single base substitution C A downstream_gene_variant ESAD-UK 5 38964248 38964248 single base substitution C A intron_variant ESAD-UK 5 38964248 38964248 single base substitution C A upstream_gene_variant ESAD-UK 5 38964537 38964537 single base substitution G A downstream_gene_variant ESAD-UK 5 38964537 38964537 single base substitution G A intron_variant ESAD-UK 5 38966095 38966095 single base substitution A G downstream_gene_variant ESAD-UK 5 38966095 38966095 single base substitution A G intron_variant ESAD-UK 5 38966230 38966230 insertion of <=200bp - A downstream_gene_variant ESAD-UK 5 38966230 38966230 insertion of <=200bp - A intron_variant ESAD-UK 5 38966563 38966563 single base substitution G A downstream_gene_variant ESAD-UK 5 38966563 38966563 single base substitution G A intron_variant ESAD-UK 5 38966929 38966929 single base substitution G C downstream_gene_variant ESAD-UK 5 38966929 38966929 single base substitution G C exon_variant ESAD-UK 5 38966929 38966929 single base substitution G C intron_variant ESAD-UK 5 38968280 38968280 single base substitution C T downstream_gene_variant ESAD-UK 5 38968280 38968280 single base substitution C T intron_variant ESAD-UK 5 38968585 38968585 single base substitution A C downstream_gene_variant ESAD-UK 5 38968585 38968585 single base substitution A C intron_variant ESAD-UK 5 38968586 38968586 single base substitution A C downstream_gene_variant ESAD-UK 5 38968586 38968586 single base substitution A C intron_variant ESAD-UK 5 38968588 38968588 single base substitution A C downstream_gene_variant ESAD-UK 5 38968588 38968588 single base substitution A C intron_variant ESAD-UK 5 38968677 38968677 deletion of <=200bp A - downstream_gene_variant ESAD-UK 5 38968677 38968677 deletion of <=200bp A - intron_variant ESAD-UK 5 38968733 38968733 single base substitution G A downstream_gene_variant ESAD-UK 5 38968733 38968733 single base substitution G A intron_variant ESAD-UK 5 38970055 38970055 single base substitution A G exon_variant ESAD-UK 5 38970055 38970055 single base substitution A G intron_variant ESAD-UK 5 38970202 38970202 single base substitution G C exon_variant ESAD-UK 5 38970202 38970202 single base substitution G C intron_variant ESAD-UK 5 38970799 38970799 single base substitution A G exon_variant ESAD-UK 5 38970799 38970799 single base substitution A G intron_variant ESAD-UK 5 38970799 38970799 single base substitution A G upstream_gene_variant ESAD-UK 5 38971218 38971218 single base substitution T G exon_variant ESAD-UK 5 38971218 38971218 single base substitution T G intron_variant ESAD-UK 5 38971218 38971218 single base substitution T G upstream_gene_variant ESAD-UK 5 38971718 38971718 single base substitution C T exon_variant ESAD-UK 5 38971718 38971718 single base substitution C T intron_variant ESAD-UK 5 38971718 38971718 single base substitution C T upstream_gene_variant ESAD-UK 5 38973109 38973109 insertion of <=200bp - A intron_variant ESAD-UK 5 38973109 38973109 insertion of <=200bp - A upstream_gene_variant ESAD-UK 5 38974722 38974722 deletion of <=200bp A - intron_variant ESAD-UK 5 38974722 38974722 deletion of <=200bp A - upstream_gene_variant ESAD-UK 5 38975086 38975086 single base substitution G T intron_variant ESAD-UK 5 38975086 38975086 single base substitution G T upstream_gene_variant ESAD-UK 5 38976495 38976495 single base substitution A C downstream_gene_variant ESAD-UK 5 38976495 38976495 single base substitution A C intron_variant ESAD-UK 5 38976495 38976495 single base substitution A C upstream_gene_variant ESAD-UK 5 38977082 38977082 single base substitution G A downstream_gene_variant ESAD-UK 5 38977082 38977082 single base substitution G A intron_variant ESAD-UK 5 38977552 38977552 single base substitution C T downstream_gene_variant ESAD-UK 5 38977552 38977552 single base substitution C T intron_variant ESAD-UK 5 38977558 38977576 deletion of <=200bp ATAACTGAAGTTTGCAGGA - downstream_gene_variant ESAD-UK 5 38977558 38977576 deletion of <=200bp ATAACTGAAGTTTGCAGGA - intron_variant ESAD-UK 5 38978094 38978094 insertion of <=200bp - A downstream_gene_variant ESAD-UK 5 38978094 38978094 insertion of <=200bp - A intron_variant ESAD-UK 5 38980528 38980528 single base substitution A G downstream_gene_variant ESAD-UK 5 38980528 38980528 single base substitution A G intron_variant ESAD-UK 5 38982752 38982752 single base substitution C T intron_variant ESAD-UK 5 38984836 38984836 single base substitution G A intron_variant ESAD-UK 5 38985070 38985070 deletion of <=200bp C - intron_variant ESAD-UK 5 38985072 38985072 single base substitution T A intron_variant ESAD-UK 5 38987915 38987915 single base substitution G A intron_variant ESAD-UK 5 38989517 38989517 single base substitution G A intron_variant ESAD-UK 5 38993392 38993392 single base substitution A G intron_variant ESAD-UK 5 38998123 38998123 single base substitution G C intron_variant ESAD-UK 5 38998658 38998658 single base substitution G A intron_variant ESAD-UK 5 38999721 38999721 deletion of <=200bp A - intron_variant ESAD-UK 5 39001212 39001212 single base substitution T G intron_variant ESAD-UK 5 39002518 39002518 insertion of <=200bp - AC intron_variant ESAD-UK 5 39002521 39002521 single base substitution C T intron_variant ESAD-UK 5 39002542 39002542 single base substitution T A intron_variant ESAD-UK 5 39004053 39004053 single base substitution T C intron_variant ESAD-UK 5 39004102 39004102 single base substitution C G intron_variant ESAD-UK 5 39004925 39004925 single base substitution C G intron_variant ESAD-UK 5 39005316 39005316 single base substitution G C intron_variant ESAD-UK 5 39005863 39005863 single base substitution G T intron_variant ESAD-UK 5 39008402 39008402 single base substitution G A intron_variant ESAD-UK 5 39008412 39008412 single base substitution T C intron_variant ESAD-UK 5 39008607 39008607 single base substitution A G intron_variant ESAD-UK 5 39009419 39009419 single base substitution G C intron_variant ESAD-UK 5 39010764 39010764 single base substitution A C intron_variant ESAD-UK 5 39012836 39012836 single base substitution T G intron_variant ESAD-UK 5 39013335 39013335 single base substitution T C intron_variant ESAD-UK 5 39014562 39014562 single base substitution T C intron_variant ESAD-UK 5 39017472 39017472 single base substitution A C intron_variant ESAD-UK 5 39018189 39018189 single base substitution C A intron_variant ESAD-UK 5 39020113 39020113 single base substitution G A intron_variant ESAD-UK 5 39020606 39020606 deletion of <=200bp T - intron_variant ESAD-UK 5 39020771 39020771 single base substitution C A intron_variant ESAD-UK 5 39023444 39023444 single base substitution T A intron_variant ESAD-UK 5 39023786 39023786 single base substitution G T intron_variant ESAD-UK 5 39026808 39026808 single base substitution G A intron_variant ESAD-UK 5 39026883 39026883 single base substitution G A intron_variant ESAD-UK 5 39026978 39026978 single base substitution G A intron_variant ESAD-UK 5 39027776 39027776 deletion of <=200bp A - intron_variant ESAD-UK 5 39035201 39035201 single base substitution G A intron_variant ESAD-UK 5 39038406 39038406 single base substitution T C intron_variant ESAD-UK 5 39041184 39041184 single base substitution G A intron_variant ESAD-UK 5 39044593 39044593 single base substitution T C intron_variant ESAD-UK 5 39045336 39045336 single base substitution C T intron_variant ESAD-UK 5 39045443 39045443 single base substitution A C intron_variant ESAD-UK 5 39047353 39047353 deletion of <=200bp G - intron_variant ESAD-UK 5 39047549 39047549 single base substitution G A intron_variant ESAD-UK 5 39049904 39049904 single base substitution C T intron_variant ESAD-UK 5 39049971 39049971 single base substitution T A intron_variant ESAD-UK 5 39050439 39050439 insertion of <=200bp - T intron_variant ESAD-UK 5 39051143 39051143 insertion of <=200bp - ACACAC intron_variant ESAD-UK 5 39051188 39051188 single base substitution C T intron_variant ESAD-UK 5 39051729 39051729 single base substitution G T intron_variant ESAD-UK 5 39053058 39053058 single base substitution A T intron_variant ESAD-UK 5 39054557 39054557 single base substitution A C intron_variant ESAD-UK 5 39055413 39055413 deletion of <=200bp T - intron_variant ESAD-UK 5 39055529 39055529 insertion of <=200bp - A intron_variant ESAD-UK 5 39056895 39056895 single base substitution A T intron_variant ESAD-UK 5 39059679 39059679 single base substitution C T intron_variant ESAD-UK 5 39061095 39061095 single base substitution T C intron_variant ESAD-UK 5 39061826 39061826 single base substitution A T intron_variant ESAD-UK 5 39061935 39061935 single base substitution T C intron_variant ESAD-UK 5 39064825 39064825 single base substitution G T intron_variant ESAD-UK 5 39065314 39065314 single base substitution C T intron_variant ESAD-UK 5 39066613 39066613 single base substitution G A intron_variant ESAD-UK 5 39067038 39067038 single base substitution C G intron_variant ESAD-UK 5 39067272 39067272 single base substitution T C intron_variant ESAD-UK 5 39069102 39069102 single base substitution G A intron_variant ESAD-UK 5 39071298 39071298 single base substitution A T intron_variant ESAD-UK 5 39072901 39072901 single base substitution G T intron_variant ESAD-UK 5 39073091 39073091 single base substitution C G intron_variant ESAD-UK 5 39075106 39075106 single base substitution T G upstream_gene_variant ESAD-UK 5 39075730 39075730 single base substitution G T upstream_gene_variant ESAD-UK 5 39076031 39076039 deletion of <=200bp ATTTGTGGA - upstream_gene_variant ESAD-UK 5 39076882 39076882 single base substitution G A upstream_gene_variant ESAD-UK 5 39077336 39077336 single base substitution C G upstream_gene_variant ESCA-CN 5 38950123 38950123 single base substitution T C 3_prime_UTR_variant ESCA-CN 5 38950123 38950123 single base substitution T C downstream_gene_variant ESCA-CN 5 38950123 38950123 single base substitution T C missense_variant H1276R 3827A>G ESCA-CN 5 38991070 38991070 single base substitution A G exon_variant ESCA-CN 5 38991070 38991070 single base substitution A G synonymous_variant I172I 516T>C ESCA-CN 5 38991070 38991070 single base substitution A G synonymous_variant I188I 564T>C GBM-US 5 38950386 38950386 single base substitution A C 3_prime_UTR_variant GBM-US 5 38950386 38950386 single base substitution A C downstream_gene_variant GBM-US 5 38950386 38950386 single base substitution A C missense_variant N1188K 3564T>G GBM-US 5 38972038 38972038 single base substitution C T 3_prime_UTR_variant GBM-US 5 38972038 38972038 single base substitution C T exon_variant GBM-US 5 38972038 38972038 single base substitution C T missense_variant G305R 913G>A GBM-US 5 38972038 38972038 single base substitution C T upstream_gene_variant KIRC-US 5 38950756 38950756 single base substitution T C 3_prime_UTR_variant KIRC-US 5 38950756 38950756 single base substitution T C downstream_gene_variant KIRC-US 5 38950756 38950756 single base substitution T C missense_variant N1065S 3194A>G KIRC-US 5 38955727 38955727 single base substitution C T 3_prime_UTR_variant KIRC-US 5 38955727 38955727 single base substitution C T exon_variant KIRC-US 5 38955727 38955727 single base substitution C T missense_variant G860D 2579G>A KIRC-US 5 38958913 38958913 single base substitution T A 3_prime_UTR_variant KIRC-US 5 38958913 38958913 single base substitution T A downstream_gene_variant KIRC-US 5 38958913 38958913 single base substitution T A exon_variant KIRC-US 5 38958913 38958913 single base substitution T A synonymous_variant T733T 2199A>T KIRC-US 5 38963027 38963027 deletion of <=200bp T - 3_prime_UTR_variant KIRC-US 5 38963027 38963027 deletion of <=200bp T - downstream_gene_variant KIRC-US 5 38963027 38963027 deletion of <=200bp T - frameshift_variant Q506 KIRC-US 5 38963027 38963027 deletion of <=200bp T - upstream_gene_variant KIRP-US 5 38947463 38947463 single base substitution G A 3_prime_UTR_variant KIRP-US 5 38947463 38947463 single base substitution G A missense_variant S1406F 4217C>T KIRP-US 5 38947463 38947463 single base substitution G A missense_variant S1430F 4289C>T KIRP-US 5 38947463 38947463 single base substitution G A upstream_gene_variant KIRP-US 5 38953603 38953603 single base substitution C G 3_prime_UTR_variant KIRP-US 5 38953603 38953603 single base substitution C G downstream_gene_variant KIRP-US 5 38953603 38953603 single base substitution C G missense_variant W917S 2750G>C KIRP-US 5 38954924 38954924 single base substitution A C 3_prime_UTR_variant KIRP-US 5 38954924 38954924 single base substitution A C exon_variant KIRP-US 5 38954924 38954924 single base substitution A C stop_gained Y883* 2649T>G LAML-KR 5 39073072 39073072 single base substitution C A intron_variant LICA-CN 5 38944584 38944584 single base substitution G A 3_prime_UTR_variant LICA-CN 5 38944584 38944584 single base substitution G A missense_variant S1626L 4877C>T LICA-CN 5 38944584 38944584 single base substitution G A missense_variant S1650L 4949C>T LICA-CN 5 38944584 38944584 single base substitution G A upstream_gene_variant LICA-CN 5 38952477 38952477 single base substitution T C 3_prime_UTR_variant LICA-CN 5 38952477 38952477 single base substitution T C downstream_gene_variant LICA-CN 5 38952477 38952477 single base substitution T C missense_variant D983G 2948A>G LICA-CN 5 38959904 38959904 single base substitution C G 3_prime_UTR_variant LICA-CN 5 38959904 38959904 single base substitution C G downstream_gene_variant LICA-CN 5 38959904 38959904 single base substitution C G synonymous_variant L676L 2028G>C LICA-CN 5 38959904 38959904 single base substitution C G upstream_gene_variant LICA-CN 5 38981986 38981986 single base substitution C A downstream_gene_variant LICA-CN 5 38981986 38981986 single base substitution C A exon_variant LICA-CN 5 38981986 38981986 single base substitution C A missense_variant A246S 736G>T LICA-FR 5 38950726 38950726 single base substitution C A 3_prime_UTR_variant LICA-FR 5 38950726 38950726 single base substitution C A downstream_gene_variant LICA-FR 5 38950726 38950726 single base substitution C A missense_variant R1075L 3224G>T LICA-FR 5 38974588 38974588 single base substitution T C intron_variant LICA-FR 5 38974588 38974588 single base substitution T C upstream_gene_variant LICA-FR 5 38978078 38978078 single base substitution C A downstream_gene_variant LICA-FR 5 38978078 38978078 single base substitution C A intron_variant LICA-FR 5 38980415 38980415 single base substitution T C downstream_gene_variant LICA-FR 5 38980415 38980415 single base substitution T C intron_variant LICA-FR 5 38986281 38986281 single base substitution T C intron_variant LICA-FR 5 38991085 38991085 single base substitution C T exon_variant LICA-FR 5 38991085 38991085 single base substitution C T missense_variant M167I 501G>A LICA-FR 5 38991085 38991085 single base substitution C T missense_variant M183I 549G>A LICA-FR 5 39002504 39002504 single base substitution A G intron_variant LICA-FR 5 39039050 39039050 single base substitution C T intron_variant LICA-FR 5 39039065 39039065 single base substitution C T intron_variant LICA-FR 5 39051421 39051421 single base substitution T C intron_variant LICA-FR 5 39061692 39061692 single base substitution T C intron_variant LIHC-US 5 38950476 38950476 single base substitution T A 3_prime_UTR_variant LIHC-US 5 38950476 38950476 single base substitution T A downstream_gene_variant LIHC-US 5 38950476 38950476 single base substitution T A missense_variant Q1158H 3474A>T LIHC-US 5 38958582 38958582 single base substitution A T 3_prime_UTR_variant LIHC-US 5 38958582 38958582 single base substitution A T downstream_gene_variant LIHC-US 5 38958582 38958582 single base substitution A T exon_variant LIHC-US 5 38958582 38958582 single base substitution A T missense_variant S795T 2383T>A LINC-JP 5 38933313 38933326 deletion of <=200bp AACTCCCTGGGAGA - downstream_gene_variant LINC-JP 5 38941731 38941731 single base substitution T C 3_prime_UTR_variant LINC-JP 5 38941731 38941731 single base substitution T C downstream_gene_variant LINC-JP 5 38942487 38942487 deletion of <=200bp A - intron_variant LINC-JP 5 38945488 38945488 single base substitution A G intron_variant LINC-JP 5 38945488 38945488 single base substitution A G upstream_gene_variant LINC-JP 5 38946530 38946530 insertion of <=200bp - A intron_variant LINC-JP 5 38946530 38946530 insertion of <=200bp - A upstream_gene_variant LINC-JP 5 38952333 38952333 single base substitution G C 3_prime_UTR_variant LINC-JP 5 38952333 38952333 single base substitution G C downstream_gene_variant LINC-JP 5 38952333 38952333 single base substitution G C missense_variant S1031C 3092C>G LINC-JP 5 38952518 38952518 single base substitution T C 3_prime_UTR_variant LINC-JP 5 38952518 38952518 single base substitution T C downstream_gene_variant LINC-JP 5 38952518 38952518 single base substitution T C synonymous_variant V969V 2907A>G LINC-JP 5 38959851 38959851 single base substitution T C downstream_gene_variant LINC-JP 5 38959851 38959851 single base substitution T C intron_variant LINC-JP 5 38959851 38959851 single base substitution T C upstream_gene_variant LINC-JP 5 38966759 38966759 single base substitution C A 3_prime_UTR_variant LINC-JP 5 38966759 38966759 single base substitution C A downstream_gene_variant LINC-JP 5 38966759 38966759 single base substitution C A exon_variant LINC-JP 5 38966759 38966759 single base substitution C A missense_variant G428V 1283G>T LINC-JP 5 38966920 38966920 single base substitution A T downstream_gene_variant LINC-JP 5 38966920 38966920 single base substitution A T exon_variant LINC-JP 5 38966920 38966920 single base substitution A T intron_variant LINC-JP 5 38967398 38967398 single base substitution G A downstream_gene_variant LINC-JP 5 38967398 38967398 single base substitution G A intron_variant LINC-JP 5 39000433 39000433 single base substitution C T intron_variant LINC-JP 5 39002502 39002502 single base substitution G A intron_variant LINC-JP 5 39002920 39002920 single base substitution C T intron_variant LINC-JP 5 39025483 39025483 single base substitution G T intron_variant LINC-JP 5 39036121 39036121 single base substitution T A intron_variant LINC-JP 5 39045051 39045051 single base substitution A G intron_variant LINC-JP 5 39046557 39046557 single base substitution G T intron_variant LINC-JP 5 39061195 39061195 single base substitution C G intron_variant LIRI-JP 5 38933985 38933985 single base substitution T C downstream_gene_variant LIRI-JP 5 38934019 38934019 single base substitution T C downstream_gene_variant LIRI-JP 5 38937304 38937304 single base substitution T C downstream_gene_variant LIRI-JP 5 38937567 38937567 single base substitution C T downstream_gene_variant LIRI-JP 5 38939508 38939508 single base substitution T C 3_prime_UTR_variant LIRI-JP 5 38939508 38939508 single base substitution T C downstream_gene_variant LIRI-JP 5 38939627 38939627 single base substitution T C 3_prime_UTR_variant LIRI-JP 5 38939627 38939627 single base substitution T C downstream_gene_variant LIRI-JP 5 38939731 38939731 single base substitution T G 3_prime_UTR_variant LIRI-JP 5 38939731 38939731 single base substitution T G downstream_gene_variant LIRI-JP 5 38939741 38939741 insertion of <=200bp - A 3_prime_UTR_variant LIRI-JP 5 38939741 38939741 insertion of <=200bp - A downstream_gene_variant LIRI-JP 5 38940420 38940420 single base substitution T C 3_prime_UTR_variant LIRI-JP 5 38940420 38940420 single base substitution T C downstream_gene_variant LIRI-JP 5 38941091 38941091 single base substitution T G 3_prime_UTR_variant LIRI-JP 5 38941091 38941091 single base substitution T G downstream_gene_variant LIRI-JP 5 38941232 38941232 single base substitution A C 3_prime_UTR_variant LIRI-JP 5 38941232 38941232 single base substitution A C downstream_gene_variant LIRI-JP 5 38941660 38941660 single base substitution A C 3_prime_UTR_variant LIRI-JP 5 38941660 38941660 single base substitution A C downstream_gene_variant LIRI-JP 5 38945062 38945062 single base substitution G T 3_prime_UTR_variant LIRI-JP 5 38945062 38945062 single base substitution G T missense_variant S1581Y 4742C>A LIRI-JP 5 38945062 38945062 single base substitution G T missense_variant S1605Y 4814C>A LIRI-JP 5 38945062 38945062 single base substitution G T upstream_gene_variant LIRI-JP 5 38945157 38945157 single base substitution A G 3_prime_UTR_variant LIRI-JP 5 38945157 38945157 single base substitution A G synonymous_variant I1549I 4647T>C LIRI-JP 5 38945157 38945157 single base substitution A G synonymous_variant I1573I 4719T>C LIRI-JP 5 38945157 38945157 single base substitution A G upstream_gene_variant LIRI-JP 5 38947010 38947010 single base substitution G A intron_variant LIRI-JP 5 38947010 38947010 single base substitution G A upstream_gene_variant LIRI-JP 5 38947662 38947662 single base substitution A T intron_variant LIRI-JP 5 38947662 38947662 single base substitution A T upstream_gene_variant LIRI-JP 5 38948641 38948641 single base substitution T C intron_variant LIRI-JP 5 38950082 38950082 single base substitution G C 3_prime_UTR_variant LIRI-JP 5 38950082 38950082 single base substitution G C downstream_gene_variant LIRI-JP 5 38950082 38950082 single base substitution G C missense_variant P1290A 3868C>G LIRI-JP 5 38950256 38950256 single base substitution T C 3_prime_UTR_variant LIRI-JP 5 38950256 38950256 single base substitution T C downstream_gene_variant LIRI-JP 5 38950256 38950256 single base substitution T C missense_variant M1232V 3694A>G LIRI-JP 5 38951393 38951393 single base substitution C T downstream_gene_variant LIRI-JP 5 38951393 38951393 single base substitution C T intron_variant LIRI-JP 5 38951570 38951570 single base substitution T C downstream_gene_variant LIRI-JP 5 38951570 38951570 single base substitution T C intron_variant LIRI-JP 5 38952719 38952719 single base substitution T G downstream_gene_variant LIRI-JP 5 38952719 38952719 single base substitution T G intron_variant LIRI-JP 5 38953334 38953334 single base substitution G T downstream_gene_variant LIRI-JP 5 38953334 38953334 single base substitution G T intron_variant LIRI-JP 5 38953834 38953834 single base substitution T C downstream_gene_variant LIRI-JP 5 38953834 38953834 single base substitution T C intron_variant LIRI-JP 5 38954447 38954447 single base substitution G C downstream_gene_variant LIRI-JP 5 38954447 38954447 single base substitution G C intron_variant LIRI-JP 5 38954495 38954495 single base substitution T C downstream_gene_variant LIRI-JP 5 38954495 38954495 single base substitution T C intron_variant LIRI-JP 5 38954611 38954611 single base substitution T A downstream_gene_variant LIRI-JP 5 38954611 38954611 single base substitution T A intron_variant LIRI-JP 5 38954935 38954935 single base substitution T C 3_prime_UTR_variant LIRI-JP 5 38954935 38954935 single base substitution T C exon_variant LIRI-JP 5 38954935 38954935 single base substitution T C missense_variant I880V 2638A>G LIRI-JP 5 38955851 38955851 single base substitution T C intron_variant LIRI-JP 5 38956879 38956879 single base substitution T C intron_variant LIRI-JP 5 38959204 38959204 single base substitution T C downstream_gene_variant LIRI-JP 5 38959204 38959204 single base substitution T C intron_variant LIRI-JP 5 38959329 38959329 single base substitution T A 3_prime_UTR_variant LIRI-JP 5 38959329 38959329 single base substitution T A downstream_gene_variant LIRI-JP 5 38959329 38959329 single base substitution T A exon_variant LIRI-JP 5 38959329 38959329 single base substitution T A missense_variant I716F 2146A>T LIRI-JP 5 38960308 38960308 single base substitution T C downstream_gene_variant LIRI-JP 5 38960308 38960308 single base substitution T C intron_variant LIRI-JP 5 38960308 38960308 single base substitution T C upstream_gene_variant LIRI-JP 5 38965199 38965199 single base substitution A G downstream_gene_variant LIRI-JP 5 38965199 38965199 single base substitution A G intron_variant LIRI-JP 5 38966777 38966780 deletion of <=200bp CTAA - 3_prime_UTR_variant LIRI-JP 5 38966777 38966780 deletion of <=200bp CTAA - downstream_gene_variant LIRI-JP 5 38966777 38966780 deletion of <=200bp CTAA - exon_variant LIRI-JP 5 38966777 38966780 deletion of <=200bp CTAA - frameshift_variant VR421 LIRI-JP 5 38967018 38967018 single base substitution T C downstream_gene_variant LIRI-JP 5 38967018 38967018 single base substitution T C exon_variant LIRI-JP 5 38967018 38967018 single base substitution T C intron_variant LIRI-JP 5 38967594 38967594 single base substitution A G downstream_gene_variant LIRI-JP 5 38967594 38967594 single base substitution A G intron_variant LIRI-JP 5 38968037 38968037 single base substitution A G downstream_gene_variant LIRI-JP 5 38968037 38968037 single base substitution A G splice_region_variant LIRI-JP 5 38969009 38969009 single base substitution A G downstream_gene_variant LIRI-JP 5 38969009 38969009 single base substitution A G intron_variant LIRI-JP 5 38969833 38969833 single base substitution T G exon_variant LIRI-JP 5 38969833 38969833 single base substitution T G intron_variant LIRI-JP 5 38970772 38970772 single base substitution A G exon_variant LIRI-JP 5 38970772 38970772 single base substitution A G intron_variant LIRI-JP 5 38970772 38970772 single base substitution A G upstream_gene_variant LIRI-JP 5 38972135 38972135 single base substitution A C intron_variant LIRI-JP 5 38972135 38972135 single base substitution A C upstream_gene_variant LIRI-JP 5 38974584 38974584 single base substitution A T intron_variant LIRI-JP 5 38974584 38974584 single base substitution A T upstream_gene_variant LIRI-JP 5 38976062 38976062 single base substitution T C downstream_gene_variant LIRI-JP 5 38976062 38976062 single base substitution T C intron_variant LIRI-JP 5 38976062 38976062 single base substitution T C upstream_gene_variant LIRI-JP 5 38977787 38977787 single base substitution T C downstream_gene_variant LIRI-JP 5 38977787 38977787 single base substitution T C intron_variant LIRI-JP 5 38982570 38982570 single base substitution C A intron_variant LIRI-JP 5 38984338 38984338 single base substitution T C intron_variant LIRI-JP 5 38985351 38985351 single base substitution T C intron_variant LIRI-JP 5 38987813 38987813 single base substitution T C intron_variant LIRI-JP 5 38988777 38988777 single base substitution G A intron_variant LIRI-JP 5 38989150 38989150 single base substitution T C intron_variant LIRI-JP 5 38991637 38991637 single base substitution G A intron_variant LIRI-JP 5 38992706 38992706 single base substitution T C intron_variant LIRI-JP 5 38992835 38992835 single base substitution A G intron_variant LIRI-JP 5 38993589 38993589 single base substitution T C intron_variant LIRI-JP 5 38993677 38993677 single base substitution C T intron_variant LIRI-JP 5 38994012 38994012 single base substitution C T intron_variant LIRI-JP 5 38994380 38994380 single base substitution T G intron_variant LIRI-JP 5 38995059 38995059 single base substitution T A intron_variant LIRI-JP 5 38996778 38996778 single base substitution T C intron_variant LIRI-JP 5 38997772 38997772 single base substitution T C intron_variant LIRI-JP 5 39002430 39002430 single base substitution G T intron_variant LIRI-JP 5 39009533 39009533 single base substitution A T intron_variant LIRI-JP 5 39011047 39011047 single base substitution T A intron_variant LIRI-JP 5 39011247 39011247 single base substitution A T intron_variant LIRI-JP 5 39011503 39011503 single base substitution G T intron_variant LIRI-JP 5 39012766 39012766 single base substitution C A intron_variant LIRI-JP 5 39012860 39012860 single base substitution T C intron_variant LIRI-JP 5 39017161 39017161 single base substitution C T intron_variant LIRI-JP 5 39020736 39020736 single base substitution A C intron_variant LIRI-JP 5 39020742 39020742 single base substitution T C intron_variant LIRI-JP 5 39022107 39022107 single base substitution T A intron_variant LIRI-JP 5 39023563 39023563 single base substitution A T intron_variant LIRI-JP 5 39025188 39025188 single base substitution T C intron_variant LIRI-JP 5 39025579 39025579 single base substitution G T intron_variant LIRI-JP 5 39027553 39027553 single base substitution T C intron_variant LIRI-JP 5 39028186 39028186 single base substitution A T intron_variant LIRI-JP 5 39029928 39029928 single base substitution A C intron_variant LIRI-JP 5 39030718 39030718 single base substitution T A intron_variant LIRI-JP 5 39030815 39030815 single base substitution T C intron_variant LIRI-JP 5 39030888 39030888 single base substitution G C intron_variant LIRI-JP 5 39034383 39034383 single base substitution A G intron_variant LIRI-JP 5 39036836 39036836 single base substitution T C intron_variant LIRI-JP 5 39040864 39040864 single base substitution T C intron_variant LIRI-JP 5 39047128 39047128 insertion of <=200bp - A intron_variant LIRI-JP 5 39048630 39048630 single base substitution T C intron_variant LIRI-JP 5 39051268 39051268 single base substitution C A intron_variant LIRI-JP 5 39051374 39051374 single base substitution C T intron_variant LIRI-JP 5 39051472 39051472 single base substitution T C intron_variant LIRI-JP 5 39051988 39051988 single base substitution T C intron_variant LIRI-JP 5 39053572 39053572 single base substitution T C intron_variant LIRI-JP 5 39055136 39055139 deletion of <=200bp ATTA - intron_variant LIRI-JP 5 39056062 39056062 single base substitution G C intron_variant LIRI-JP 5 39056685 39056685 single base substitution G C intron_variant LIRI-JP 5 39058037 39058037 single base substitution T C intron_variant LIRI-JP 5 39058171 39058171 single base substitution T A intron_variant LIRI-JP 5 39058378 39058378 single base substitution T C intron_variant LIRI-JP 5 39059737 39059737 single base substitution T A intron_variant LIRI-JP 5 39063176 39063176 single base substitution T C intron_variant LIRI-JP 5 39063218 39063218 single base substitution A C intron_variant LIRI-JP 5 39063223 39063223 single base substitution T C intron_variant LIRI-JP 5 39065489 39065489 single base substitution A G intron_variant LIRI-JP 5 39066582 39066582 single base substitution A G intron_variant LIRI-JP 5 39067099 39067099 single base substitution T A intron_variant LIRI-JP 5 39069287 39069287 single base substitution G A intron_variant LIRI-JP 5 39072212 39072212 single base substitution A G intron_variant LIRI-JP 5 39072383 39072383 single base substitution T C intron_variant LIRI-JP 5 39073427 39073427 single base substitution A G intron_variant LIRI-JP 5 39075471 39075471 single base substitution C A upstream_gene_variant LIRI-JP 5 39076082 39076082 single base substitution T G upstream_gene_variant LIRI-JP 5 39078977 39078977 single base substitution A G upstream_gene_variant LIRI-JP 5 39079349 39079349 single base substitution A T upstream_gene_variant LUSC-KR 5 38934400 38934400 single base substitution C T downstream_gene_variant LUSC-KR 5 38938664 38938664 single base substitution A G 3_prime_UTR_variant LUSC-KR 5 38938664 38938664 single base substitution A G downstream_gene_variant LUSC-KR 5 38940359 38940359 single base substitution G T 3_prime_UTR_variant LUSC-KR 5 38940359 38940359 single base substitution G T downstream_gene_variant LUSC-KR 5 38944968 38944968 single base substitution C G intron_variant LUSC-KR 5 38944968 38944968 single base substitution C G upstream_gene_variant LUSC-KR 5 38944993 38944993 single base substitution G A intron_variant LUSC-KR 5 38944993 38944993 single base substitution G A upstream_gene_variant LUSC-KR 5 38945569 38945569 single base substitution T A intron_variant LUSC-KR 5 38945569 38945569 single base substitution T A upstream_gene_variant LUSC-KR 5 38945919 38945919 single base substitution C T intron_variant LUSC-KR 5 38945919 38945919 single base substitution C T upstream_gene_variant LUSC-KR 5 38946664 38946664 single base substitution G T intron_variant LUSC-KR 5 38946664 38946664 single base substitution G T upstream_gene_variant LUSC-KR 5 38953679 38953679 single base substitution A G downstream_gene_variant LUSC-KR 5 38953679 38953679 single base substitution A G intron_variant LUSC-KR 5 38954839 38954839 single base substitution A G exon_variant LUSC-KR 5 38954839 38954839 single base substitution A G intron_variant LUSC-KR 5 38958750 38958750 single base substitution A G downstream_gene_variant LUSC-KR 5 38958750 38958750 single base substitution A G intron_variant LUSC-KR 5 38966483 38966483 single base substitution C A downstream_gene_variant LUSC-KR 5 38966483 38966483 single base substitution C A intron_variant LUSC-KR 5 38970660 38970660 single base substitution C T exon_variant LUSC-KR 5 38970660 38970660 single base substitution C T intron_variant LUSC-KR 5 38973612 38973612 single base substitution C T intron_variant LUSC-KR 5 38973612 38973612 single base substitution C T upstream_gene_variant LUSC-KR 5 38974409 38974409 single base substitution G A intron_variant LUSC-KR 5 38974409 38974409 single base substitution G A upstream_gene_variant LUSC-KR 5 38985404 38985404 single base substitution T C intron_variant LUSC-KR 5 38986220 38986220 single base substitution G A intron_variant LUSC-KR 5 38986531 38986531 single base substitution C A intron_variant LUSC-KR 5 38991492 38991492 single base substitution C A intron_variant LUSC-KR 5 38992348 38992348 single base substitution G A intron_variant LUSC-KR 5 38994153 38994153 single base substitution G A intron_variant LUSC-KR 5 38994553 38994553 single base substitution A G intron_variant LUSC-KR 5 38996174 38996174 single base substitution G T intron_variant LUSC-KR 5 39001774 39001774 single base substitution C T intron_variant LUSC-KR 5 39003565 39003565 single base substitution G C intron_variant LUSC-KR 5 39004174 39004174 single base substitution T G intron_variant LUSC-KR 5 39004403 39004403 single base substitution T C intron_variant LUSC-KR 5 39006878 39006878 single base substitution A G intron_variant LUSC-KR 5 39010285 39010285 single base substitution C A intron_variant LUSC-KR 5 39013554 39013554 single base substitution C G intron_variant LUSC-KR 5 39017417 39017417 single base substitution G C intron_variant LUSC-KR 5 39019042 39019042 single base substitution C T intron_variant LUSC-KR 5 39024118 39024118 single base substitution G A intron_variant LUSC-KR 5 39025040 39025040 single base substitution G C intron_variant LUSC-KR 5 39025294 39025294 single base substitution C A intron_variant LUSC-KR 5 39026734 39026734 single base substitution C A intron_variant LUSC-KR 5 39027621 39027621 single base substitution T C intron_variant LUSC-KR 5 39028218 39028218 single base substitution C T intron_variant LUSC-KR 5 39034162 39034162 single base substitution C G intron_variant LUSC-KR 5 39035624 39035624 single base substitution C A intron_variant LUSC-KR 5 39035625 39035625 single base substitution C G intron_variant LUSC-KR 5 39039000 39039000 single base substitution A C intron_variant LUSC-KR 5 39045103 39045103 single base substitution G A intron_variant LUSC-KR 5 39045448 39045448 single base substitution C T intron_variant LUSC-KR 5 39045603 39045603 single base substitution C A intron_variant LUSC-KR 5 39046519 39046519 single base substitution G T intron_variant LUSC-KR 5 39049585 39049585 single base substitution C G intron_variant LUSC-KR 5 39049776 39049776 single base substitution T A intron_variant LUSC-KR 5 39056588 39056588 single base substitution A T intron_variant LUSC-KR 5 39057817 39057817 single base substitution T C intron_variant LUSC-KR 5 39062204 39062204 single base substitution T C intron_variant LUSC-KR 5 39062313 39062313 single base substitution C T intron_variant LUSC-KR 5 39064575 39064575 single base substitution T C intron_variant LUSC-KR 5 39065146 39065146 single base substitution G T intron_variant LUSC-KR 5 39066798 39066798 single base substitution T G intron_variant LUSC-KR 5 39068387 39068387 single base substitution G A intron_variant LUSC-KR 5 39069139 39069139 single base substitution A G intron_variant LUSC-KR 5 39072419 39072419 single base substitution C T intron_variant LUSC-KR 5 39073446 39073446 single base substitution G A intron_variant LUSC-KR 5 39074766 39074766 single base substitution A G upstream_gene_variant LUSC-KR 5 39075424 39075424 single base substitution C T upstream_gene_variant LUSC-KR 5 39077478 39077478 single base substitution A G upstream_gene_variant LUSC-KR 5 39077960 39077960 single base substitution C T upstream_gene_variant LUSC-US 5 38933461 38933461 single base substitution C T downstream_gene_variant LUSC-US 5 38944564 38944564 single base substitution C G 3_prime_UTR_variant LUSC-US 5 38944564 38944564 single base substitution C G missense_variant E1633Q 4897G>C LUSC-US 5 38944564 38944564 single base substitution C G missense_variant E1657Q 4969G>C LUSC-US 5 38944564 38944564 single base substitution C G upstream_gene_variant LUSC-US 5 38950055 38950055 single base substitution T C 3_prime_UTR_variant LUSC-US 5 38950055 38950055 single base substitution T C downstream_gene_variant LUSC-US 5 38950055 38950055 single base substitution T C missense_variant R1299G 3895A>G LUSC-US 5 38960533 38960533 single base substitution G A 3_prime_UTR_variant LUSC-US 5 38960533 38960533 single base substitution G A downstream_gene_variant LUSC-US 5 38960533 38960533 single base substitution G A synonymous_variant C606C 1818C>T LUSC-US 5 38960533 38960533 single base substitution G A upstream_gene_variant LUSC-US 5 38962427 38962427 single base substitution G A 3_prime_UTR_variant LUSC-US 5 38962427 38962427 single base substitution G A downstream_gene_variant LUSC-US 5 38962427 38962427 single base substitution G A stop_gained Q569* 1705C>T LUSC-US 5 38962427 38962427 single base substitution G A upstream_gene_variant LUSC-US 5 38963107 38963107 single base substitution G A 3_prime_UTR_variant LUSC-US 5 38963107 38963107 single base substitution G A downstream_gene_variant LUSC-US 5 38963107 38963107 single base substitution G A exon_variant LUSC-US 5 38963107 38963107 single base substitution G A synonymous_variant F479F 1437C>T LUSC-US 5 38963107 38963107 single base substitution G A upstream_gene_variant MALY-DE 5 38936471 38936471 deletion of <=200bp A - downstream_gene_variant MALY-DE 5 38940584 38940584 single base substitution C T 3_prime_UTR_variant MALY-DE 5 38940584 38940584 single base substitution C T downstream_gene_variant MALY-DE 5 38942063 38942063 single base substitution T C 3_prime_UTR_variant MALY-DE 5 38942063 38942063 single base substitution T C downstream_gene_variant MALY-DE 5 38942764 38942764 single base substitution C G intron_variant MALY-DE 5 38950261 38950261 single base substitution C G 3_prime_UTR_variant MALY-DE 5 38950261 38950261 single base substitution C G downstream_gene_variant MALY-DE 5 38950261 38950261 single base substitution C G missense_variant S1230T 3689G>C MALY-DE 5 38951952 38951952 single base substitution A C downstream_gene_variant MALY-DE 5 38951952 38951952 single base substitution A C intron_variant MALY-DE 5 38954020 38954020 single base substitution C G downstream_gene_variant MALY-DE 5 38954020 38954020 single base substitution C G intron_variant MALY-DE 5 38954709 38954709 single base substitution A G downstream_gene_variant MALY-DE 5 38954709 38954709 single base substitution A G intron_variant MALY-DE 5 38966531 38966531 single base substitution C T downstream_gene_variant MALY-DE 5 38966531 38966531 single base substitution C T intron_variant MALY-DE 5 38978767 38978767 single base substitution A T downstream_gene_variant MALY-DE 5 38978767 38978767 single base substitution A T intron_variant MALY-DE 5 38981352 38981352 single base substitution T C downstream_gene_variant MALY-DE 5 38981352 38981352 single base substitution T C exon_variant MALY-DE 5 38981352 38981352 single base substitution T C intron_variant MALY-DE 5 38981550 38981550 single base substitution T C downstream_gene_variant MALY-DE 5 38981550 38981550 single base substitution T C exon_variant MALY-DE 5 38981550 38981550 single base substitution T C intron_variant MALY-DE 5 38991784 38991784 single base substitution T A intron_variant MALY-DE 5 38992871 38992871 single base substitution C A intron_variant MALY-DE 5 38993125 38993139 deletion of <=200bp AGTAACAATTGTGGT - intron_variant MALY-DE 5 38993538 38993538 single base substitution A T intron_variant MALY-DE 5 38999182 38999182 single base substitution A G intron_variant MALY-DE 5 39000588 39000588 single base substitution A T intron_variant MALY-DE 5 39002485 39002486 deletion of <=200bp TG - intron_variant MALY-DE 5 39007054 39007054 single base substitution T C intron_variant MALY-DE 5 39011843 39011843 single base substitution G A intron_variant MALY-DE 5 39018666 39018666 single base substitution A C intron_variant MALY-DE 5 39023459 39023459 insertion of <=200bp - A intron_variant MALY-DE 5 39027632 39027632 single base substitution C A intron_variant MALY-DE 5 39030325 39030328 deletion of <=200bp TCTA - intron_variant MALY-DE 5 39036746 39036746 insertion of <=200bp - A intron_variant MALY-DE 5 39040581 39040581 single base substitution A T intron_variant MALY-DE 5 39058948 39058948 single base substitution C A intron_variant MALY-DE 5 39061134 39061134 single base substitution C A intron_variant MALY-DE 5 39063118 39063118 single base substitution A C intron_variant MALY-DE 5 39066511 39066511 single base substitution G A intron_variant MALY-DE 5 39066512 39066512 single base substitution G A intron_variant MALY-DE 5 39073418 39073418 single base substitution A C intron_variant MALY-DE 5 39075106 39075106 single base substitution T A upstream_gene_variant MALY-DE 5 39075302 39075302 single base substitution T A upstream_gene_variant MALY-DE 5 39075499 39075499 single base substitution A T upstream_gene_variant MALY-DE 5 39077964 39077964 single base substitution A C upstream_gene_variant MELA-AU 5 38933277 38933277 single base substitution G A downstream_gene_variant MELA-AU 5 38933557 38933557 single base substitution G A downstream_gene_variant MELA-AU 5 38933567 38933567 single base substitution C T downstream_gene_variant MELA-AU 5 38933709 38933709 single base substitution G A downstream_gene_variant MELA-AU 5 38933810 38933810 single base substitution G A downstream_gene_variant MELA-AU 5 38934228 38934228 single base substitution C G downstream_gene_variant MELA-AU 5 38934876 38934876 single base substitution G A downstream_gene_variant MELA-AU 5 38934877 38934877 single base substitution G A downstream_gene_variant MELA-AU 5 38935172 38935172 single base substitution G A downstream_gene_variant MELA-AU 5 38935206 38935206 single base substitution G A downstream_gene_variant MELA-AU 5 38935300 38935300 single base substitution T G downstream_gene_variant MELA-AU 5 38935680 38935680 single base substitution C T downstream_gene_variant MELA-AU 5 38935757 38935757 single base substitution C T downstream_gene_variant MELA-AU 5 38935979 38935979 single base substitution G A downstream_gene_variant MELA-AU 5 38936001 38936001 single base substitution G A downstream_gene_variant MELA-AU 5 38936832 38936832 single base substitution G C downstream_gene_variant MELA-AU 5 38936854 38936854 single base substitution G A downstream_gene_variant MELA-AU 5 38938497 38938497 single base substitution T C 3_prime_UTR_variant MELA-AU 5 38938497 38938497 single base substitution T C downstream_gene_variant MELA-AU 5 38938700 38938700 single base substitution A G 3_prime_UTR_variant MELA-AU 5 38938700 38938700 single base substitution A G downstream_gene_variant MELA-AU 5 38938955 38938955 single base substitution G A 3_prime_UTR_variant MELA-AU 5 38938955 38938955 single base substitution G A downstream_gene_variant MELA-AU 5 38939410 38939410 single base substitution T A 3_prime_UTR_variant MELA-AU 5 38939410 38939410 single base substitution T A downstream_gene_variant MELA-AU 5 38939590 38939590 single base substitution G A 3_prime_UTR_variant MELA-AU 5 38939590 38939590 single base substitution G A downstream_gene_variant MELA-AU 5 38940228 38940228 single base substitution A G 3_prime_UTR_variant MELA-AU 5 38940228 38940228 single base substitution A G downstream_gene_variant MELA-AU 5 38940482 38940482 single base substitution G A 3_prime_UTR_variant MELA-AU 5 38940482 38940482 single base substitution G A downstream_gene_variant MELA-AU 5 38940568 38940568 single base substitution C T 3_prime_UTR_variant MELA-AU 5 38940568 38940568 single base substitution C T downstream_gene_variant MELA-AU 5 38940690 38940690 single base substitution G A 3_prime_UTR_variant MELA-AU 5 38940690 38940690 single base substitution G A downstream_gene_variant MELA-AU 5 38941043 38941043 single base substitution G A 3_prime_UTR_variant MELA-AU 5 38941043 38941043 single base substitution G A downstream_gene_variant MELA-AU 5 38941817 38941817 single base substitution T G 3_prime_UTR_variant MELA-AU 5 38941817 38941817 single base substitution T G downstream_gene_variant MELA-AU 5 38942220 38942220 single base substitution G C 3_prime_UTR_variant MELA-AU 5 38942220 38942220 single base substitution G C downstream_gene_variant MELA-AU 5 38942250 38942250 single base substitution A G 3_prime_UTR_variant MELA-AU 5 38942250 38942250 single base substitution A G downstream_gene_variant MELA-AU 5 38942320 38942320 single base substitution T C 3_prime_UTR_variant MELA-AU 5 38942320 38942320 single base substitution T C downstream_gene_variant MELA-AU 5 38942527 38942527 single base substitution G A intron_variant MELA-AU 5 38942901 38942901 single base substitution G A intron_variant MELA-AU 5 38943269 38943269 single base substitution T A exon_variant MELA-AU 5 38943269 38943269 single base substitution T A intron_variant MELA-AU 5 38943960 38943961 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 38943960 38943961 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 38944069 38944069 single base substitution C T intron_variant MELA-AU 5 38944069 38944069 single base substitution C T upstream_gene_variant MELA-AU 5 38944657 38944657 single base substitution G A 3_prime_UTR_variant MELA-AU 5 38944657 38944657 single base substitution G A missense_variant P1602S 4804C>T MELA-AU 5 38944657 38944657 single base substitution G A missense_variant P1626S 4876C>T MELA-AU 5 38944657 38944657 single base substitution G A upstream_gene_variant MELA-AU 5 38944943 38944943 single base substitution G A intron_variant MELA-AU 5 38944943 38944943 single base substitution G A upstream_gene_variant MELA-AU 5 38945986 38945986 single base substitution G A intron_variant MELA-AU 5 38945986 38945986 single base substitution G A upstream_gene_variant MELA-AU 5 38946121 38946121 single base substitution G C intron_variant MELA-AU 5 38946121 38946121 single base substitution G C upstream_gene_variant MELA-AU 5 38946527 38946527 deletion of <=200bp A - intron_variant MELA-AU 5 38946527 38946527 deletion of <=200bp A - upstream_gene_variant MELA-AU 5 38946788 38946788 single base substitution G A intron_variant MELA-AU 5 38946788 38946788 single base substitution G A upstream_gene_variant MELA-AU 5 38947303 38947303 single base substitution G A intron_variant MELA-AU 5 38947303 38947303 single base substitution G A upstream_gene_variant MELA-AU 5 38947361 38947361 single base substitution A G splice_region_variant MELA-AU 5 38947361 38947361 single base substitution A G upstream_gene_variant MELA-AU 5 38947603 38947603 single base substitution G A intron_variant MELA-AU 5 38947603 38947603 single base substitution G A upstream_gene_variant MELA-AU 5 38947796 38947796 single base substitution G A intron_variant MELA-AU 5 38947796 38947796 single base substitution G A upstream_gene_variant MELA-AU 5 38948404 38948404 single base substitution G A intron_variant MELA-AU 5 38948543 38948543 single base substitution G A intron_variant MELA-AU 5 38948885 38948886 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 5 38949552 38949552 single base substitution A T intron_variant MELA-AU 5 38949615 38949615 single base substitution G A intron_variant MELA-AU 5 38950497 38950497 single base substitution G A 3_prime_UTR_variant MELA-AU 5 38950497 38950497 single base substitution G A downstream_gene_variant MELA-AU 5 38950497 38950497 single base substitution G A synonymous_variant S1151S 3453C>T MELA-AU 5 38950523 38950523 single base substitution G A 3_prime_UTR_variant MELA-AU 5 38950523 38950523 single base substitution G A downstream_gene_variant MELA-AU 5 38950523 38950523 single base substitution G A missense_variant H1143Y 3427C>T MELA-AU 5 38950590 38950590 single base substitution T C 3_prime_UTR_variant MELA-AU 5 38950590 38950590 single base substitution T C downstream_gene_variant MELA-AU 5 38950590 38950590 single base substitution T C synonymous_variant L1120L 3360A>G MELA-AU 5 38950607 38950607 single base substitution G A 3_prime_UTR_variant MELA-AU 5 38950607 38950607 single base substitution G A downstream_gene_variant MELA-AU 5 38950607 38950607 single base substitution G A missense_variant P1115S 3343C>T MELA-AU 5 38950622 38950622 single base substitution G A 3_prime_UTR_variant MELA-AU 5 38950622 38950622 single base substitution G A downstream_gene_variant MELA-AU 5 38950622 38950622 single base substitution G A missense_variant R1110C 3328C>T MELA-AU 5 38950699 38950699 single base substitution G A 3_prime_UTR_variant MELA-AU 5 38950699 38950699 single base substitution G A downstream_gene_variant MELA-AU 5 38950699 38950699 single base substitution G A missense_variant S1084L 3251C>T MELA-AU 5 38950927 38950927 single base substitution G A downstream_gene_variant MELA-AU 5 38950927 38950927 single base substitution G A intron_variant MELA-AU 5 38950937 38950937 single base substitution A G downstream_gene_variant MELA-AU 5 38950937 38950937 single base substitution A G intron_variant MELA-AU 5 38951628 38951628 single base substitution A T downstream_gene_variant MELA-AU 5 38951628 38951628 single base substitution A T intron_variant MELA-AU 5 38951652 38951652 single base substitution T G downstream_gene_variant MELA-AU 5 38951652 38951652 single base substitution T G intron_variant MELA-AU 5 38952030 38952030 single base substitution G A downstream_gene_variant MELA-AU 5 38952030 38952030 single base substitution G A intron_variant MELA-AU 5 38952033 38952033 single base substitution G A downstream_gene_variant MELA-AU 5 38952033 38952033 single base substitution G A intron_variant MELA-AU 5 38952045 38952045 single base substitution C T downstream_gene_variant MELA-AU 5 38952045 38952045 single base substitution C T intron_variant MELA-AU 5 38952104 38952104 single base substitution G A downstream_gene_variant MELA-AU 5 38952104 38952104 single base substitution G A intron_variant MELA-AU 5 38952244 38952244 single base substitution C T downstream_gene_variant MELA-AU 5 38952244 38952244 single base substitution C T intron_variant MELA-AU 5 38952371 38952371 single base substitution G A 3_prime_UTR_variant MELA-AU 5 38952371 38952371 single base substitution G A downstream_gene_variant MELA-AU 5 38952371 38952371 single base substitution G A synonymous_variant I1018I 3054C>T MELA-AU 5 38952435 38952435 single base substitution C T 3_prime_UTR_variant MELA-AU 5 38952435 38952435 single base substitution C T downstream_gene_variant MELA-AU 5 38952435 38952435 single base substitution C T missense_variant R997H 2990G>A MELA-AU 5 38952807 38952807 single base substitution C T downstream_gene_variant MELA-AU 5 38952807 38952807 single base substitution C T intron_variant MELA-AU 5 38953006 38953007 multiple base substitution (>=2bp and <=200bp) AA CC downstream_gene_variant MELA-AU 5 38953006 38953007 multiple base substitution (>=2bp and <=200bp) AA CC intron_variant MELA-AU 5 38953080 38953080 single base substitution G A downstream_gene_variant MELA-AU 5 38953080 38953080 single base substitution G A splice_region_variant MELA-AU 5 38953250 38953250 single base substitution G A downstream_gene_variant MELA-AU 5 38953250 38953250 single base substitution G A intron_variant MELA-AU 5 38953818 38953818 single base substitution G A downstream_gene_variant MELA-AU 5 38953818 38953818 single base substitution G A intron_variant MELA-AU 5 38954667 38954667 single base substitution G T downstream_gene_variant MELA-AU 5 38954667 38954667 single base substitution G T intron_variant MELA-AU 5 38954759 38954759 single base substitution C T downstream_gene_variant MELA-AU 5 38954759 38954759 single base substitution C T intron_variant MELA-AU 5 38957327 38957327 single base substitution G A intron_variant MELA-AU 5 38957358 38957359 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 38957548 38957548 single base substitution G A intron_variant MELA-AU 5 38957923 38957923 single base substitution G A intron_variant MELA-AU 5 38958071 38958071 single base substitution G A downstream_gene_variant MELA-AU 5 38958071 38958071 single base substitution G A intron_variant MELA-AU 5 38958159 38958159 single base substitution G A downstream_gene_variant MELA-AU 5 38958159 38958159 single base substitution G A intron_variant MELA-AU 5 38958258 38958258 single base substitution G A downstream_gene_variant MELA-AU 5 38958258 38958258 single base substitution G A intron_variant MELA-AU 5 38958387 38958387 single base substitution A T downstream_gene_variant MELA-AU 5 38958387 38958387 single base substitution A T intron_variant MELA-AU 5 38958628 38958628 single base substitution G A downstream_gene_variant MELA-AU 5 38958628 38958628 single base substitution G A splice_region_variant MELA-AU 5 38959128 38959128 single base substitution C G downstream_gene_variant MELA-AU 5 38959128 38959128 single base substitution C G intron_variant MELA-AU 5 38959275 38959275 single base substitution T C downstream_gene_variant MELA-AU 5 38959275 38959275 single base substitution T C intron_variant MELA-AU 5 38960250 38960250 single base substitution G A downstream_gene_variant MELA-AU 5 38960250 38960250 single base substitution G A intron_variant MELA-AU 5 38960250 38960250 single base substitution G A upstream_gene_variant MELA-AU 5 38960420 38960420 single base substitution A C downstream_gene_variant MELA-AU 5 38960420 38960420 single base substitution A C intron_variant MELA-AU 5 38960420 38960420 single base substitution A C upstream_gene_variant MELA-AU 5 38960975 38960976 multiple base substitution (>=2bp and <=200bp) GT AA downstream_gene_variant MELA-AU 5 38960975 38960976 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 5 38960975 38960976 multiple base substitution (>=2bp and <=200bp) GT AA upstream_gene_variant MELA-AU 5 38962791 38962791 single base substitution G A downstream_gene_variant MELA-AU 5 38962791 38962791 single base substitution G A intron_variant MELA-AU 5 38962791 38962791 single base substitution G A upstream_gene_variant MELA-AU 5 38962796 38962796 single base substitution G A downstream_gene_variant MELA-AU 5 38962796 38962796 single base substitution G A intron_variant MELA-AU 5 38962796 38962796 single base substitution G A upstream_gene_variant MELA-AU 5 38962983 38962983 single base substitution G A 3_prime_UTR_variant MELA-AU 5 38962983 38962983 single base substitution G A downstream_gene_variant MELA-AU 5 38962983 38962983 single base substitution G A missense_variant L521F 1561C>T MELA-AU 5 38962983 38962983 single base substitution G A upstream_gene_variant MELA-AU 5 38963058 38963058 single base substitution G A 3_prime_UTR_variant MELA-AU 5 38963058 38963058 single base substitution G A downstream_gene_variant MELA-AU 5 38963058 38963058 single base substitution G A exon_variant MELA-AU 5 38963058 38963058 single base substitution G A missense_variant H496Y 1486C>T MELA-AU 5 38963058 38963058 single base substitution G A upstream_gene_variant MELA-AU 5 38963108 38963108 single base substitution A T 3_prime_UTR_variant MELA-AU 5 38963108 38963108 single base substitution A T downstream_gene_variant MELA-AU 5 38963108 38963108 single base substitution A T exon_variant MELA-AU 5 38963108 38963108 single base substitution A T missense_variant F479Y 1436T>A MELA-AU 5 38963108 38963108 single base substitution A T upstream_gene_variant MELA-AU 5 38963314 38963314 single base substitution T C downstream_gene_variant MELA-AU 5 38963314 38963314 single base substitution T C intron_variant MELA-AU 5 38963314 38963314 single base substitution T C upstream_gene_variant MELA-AU 5 38963453 38963453 single base substitution G A downstream_gene_variant MELA-AU 5 38963453 38963453 single base substitution G A intron_variant MELA-AU 5 38963453 38963453 single base substitution G A upstream_gene_variant MELA-AU 5 38963738 38963738 single base substitution G A downstream_gene_variant MELA-AU 5 38963738 38963738 single base substitution G A intron_variant MELA-AU 5 38963738 38963738 single base substitution G A upstream_gene_variant MELA-AU 5 38964322 38964322 single base substitution G A downstream_gene_variant MELA-AU 5 38964322 38964322 single base substitution G A intron_variant MELA-AU 5 38964322 38964322 single base substitution G A upstream_gene_variant MELA-AU 5 38964940 38964940 single base substitution G A 3_prime_UTR_variant MELA-AU 5 38964940 38964940 single base substitution G A downstream_gene_variant MELA-AU 5 38964940 38964940 single base substitution G A exon_variant MELA-AU 5 38964940 38964940 single base substitution G A synonymous_variant L452L 1354C>T MELA-AU 5 38965040 38965040 single base substitution G A downstream_gene_variant MELA-AU 5 38965040 38965040 single base substitution G A intron_variant MELA-AU 5 38966077 38966077 single base substitution T C downstream_gene_variant MELA-AU 5 38966077 38966077 single base substitution T C intron_variant MELA-AU 5 38966650 38966650 single base substitution G A downstream_gene_variant MELA-AU 5 38966650 38966650 single base substitution G A intron_variant MELA-AU 5 38967461 38967461 single base substitution G A 3_prime_UTR_variant MELA-AU 5 38967461 38967461 single base substitution G A downstream_gene_variant MELA-AU 5 38967461 38967461 single base substitution G A exon_variant MELA-AU 5 38967461 38967461 single base substitution G A missense_variant L377F 1129C>T MELA-AU 5 38967718 38967718 single base substitution G A downstream_gene_variant MELA-AU 5 38967718 38967718 single base substitution G A intron_variant MELA-AU 5 38967736 38967736 single base substitution C T downstream_gene_variant MELA-AU 5 38967736 38967736 single base substitution C T intron_variant MELA-AU 5 38967895 38967895 single base substitution G A downstream_gene_variant MELA-AU 5 38967895 38967895 single base substitution G A intron_variant MELA-AU 5 38967981 38967981 single base substitution G A downstream_gene_variant MELA-AU 5 38967981 38967981 single base substitution G A intron_variant MELA-AU 5 38968585 38968585 single base substitution A C downstream_gene_variant MELA-AU 5 38968585 38968585 single base substitution A C intron_variant MELA-AU 5 38968734 38968734 single base substitution G A downstream_gene_variant MELA-AU 5 38968734 38968734 single base substitution G A intron_variant MELA-AU 5 38969263 38969263 single base substitution G A downstream_gene_variant MELA-AU 5 38969263 38969263 single base substitution G A intron_variant MELA-AU 5 38969539 38969539 single base substitution G A downstream_gene_variant MELA-AU 5 38969539 38969539 single base substitution G A intron_variant MELA-AU 5 38971232 38971232 single base substitution C T exon_variant MELA-AU 5 38971232 38971232 single base substitution C T intron_variant MELA-AU 5 38971232 38971232 single base substitution C T upstream_gene_variant MELA-AU 5 38971988 38971988 single base substitution C T 3_prime_UTR_variant MELA-AU 5 38971988 38971988 single base substitution C T exon_variant MELA-AU 5 38971988 38971988 single base substitution C T missense_variant M321I 963G>A MELA-AU 5 38971988 38971988 single base substitution C T upstream_gene_variant MELA-AU 5 38973748 38973748 single base substitution G A intron_variant MELA-AU 5 38973748 38973748 single base substitution G A upstream_gene_variant MELA-AU 5 38973871 38973871 single base substitution G A intron_variant MELA-AU 5 38973871 38973871 single base substitution G A upstream_gene_variant MELA-AU 5 38975190 38975190 single base substitution C T intron_variant MELA-AU 5 38975190 38975190 single base substitution C T upstream_gene_variant MELA-AU 5 38976016 38976016 single base substitution G A downstream_gene_variant MELA-AU 5 38976016 38976016 single base substitution G A intron_variant MELA-AU 5 38976016 38976016 single base substitution G A upstream_gene_variant MELA-AU 5 38976469 38976469 single base substitution C T downstream_gene_variant MELA-AU 5 38976469 38976469 single base substitution C T intron_variant MELA-AU 5 38976469 38976469 single base substitution C T upstream_gene_variant MELA-AU 5 38976634 38976634 single base substitution G A downstream_gene_variant MELA-AU 5 38976634 38976634 single base substitution G A intron_variant MELA-AU 5 38976634 38976634 single base substitution G A upstream_gene_variant MELA-AU 5 38976887 38976887 single base substitution G A downstream_gene_variant MELA-AU 5 38976887 38976887 single base substitution G A intron_variant MELA-AU 5 38976887 38976887 single base substitution G A upstream_gene_variant MELA-AU 5 38976900 38976900 single base substitution G A downstream_gene_variant MELA-AU 5 38976900 38976900 single base substitution G A intron_variant MELA-AU 5 38976900 38976900 single base substitution G A upstream_gene_variant MELA-AU 5 38977092 38977092 single base substitution G A downstream_gene_variant MELA-AU 5 38977092 38977092 single base substitution G A intron_variant MELA-AU 5 38977410 38977410 single base substitution A C downstream_gene_variant MELA-AU 5 38977410 38977410 single base substitution A C intron_variant MELA-AU 5 38978346 38978346 single base substitution G A downstream_gene_variant MELA-AU 5 38978346 38978346 single base substitution G A intron_variant MELA-AU 5 38978946 38978946 single base substitution T A downstream_gene_variant MELA-AU 5 38978946 38978946 single base substitution T A intron_variant MELA-AU 5 38979085 38979085 single base substitution G A downstream_gene_variant MELA-AU 5 38979085 38979085 single base substitution G A intron_variant MELA-AU 5 38979611 38979611 single base substitution A G downstream_gene_variant MELA-AU 5 38979611 38979611 single base substitution A G intron_variant MELA-AU 5 38979926 38979926 single base substitution A G downstream_gene_variant MELA-AU 5 38979926 38979926 single base substitution A G intron_variant MELA-AU 5 38979990 38979990 single base substitution T A downstream_gene_variant MELA-AU 5 38979990 38979990 single base substitution T A intron_variant MELA-AU 5 38980442 38980442 single base substitution G A downstream_gene_variant MELA-AU 5 38980442 38980442 single base substitution G A intron_variant MELA-AU 5 38981383 38981383 single base substitution G C downstream_gene_variant MELA-AU 5 38981383 38981383 single base substitution G C exon_variant MELA-AU 5 38981383 38981383 single base substitution G C intron_variant MELA-AU 5 38981924 38981924 single base substitution T C downstream_gene_variant MELA-AU 5 38981924 38981924 single base substitution T C exon_variant MELA-AU 5 38981924 38981924 single base substitution T C intron_variant MELA-AU 5 38982074 38982074 single base substitution G A exon_variant MELA-AU 5 38982074 38982074 single base substitution G A synonymous_variant I200I 600C>T MELA-AU 5 38982074 38982074 single base substitution G A synonymous_variant I216I 648C>T MELA-AU 5 38982321 38982321 single base substitution C G intron_variant MELA-AU 5 38982581 38982581 single base substitution G T intron_variant MELA-AU 5 38982706 38982706 single base substitution T C intron_variant MELA-AU 5 38982727 38982727 single base substitution C T intron_variant MELA-AU 5 38984354 38984354 single base substitution A T intron_variant MELA-AU 5 38984397 38984397 single base substitution G C intron_variant MELA-AU 5 38984479 38984479 single base substitution C T intron_variant MELA-AU 5 38984845 38984845 single base substitution A C intron_variant MELA-AU 5 38985358 38985358 single base substitution A G intron_variant MELA-AU 5 38986225 38986225 single base substitution G A intron_variant MELA-AU 5 38986401 38986401 single base substitution G T intron_variant MELA-AU 5 38987789 38987790 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 38988423 38988423 single base substitution G A intron_variant MELA-AU 5 38988601 38988601 single base substitution A G intron_variant MELA-AU 5 38988744 38988744 single base substitution T A intron_variant MELA-AU 5 38988930 38988930 single base substitution G A intron_variant MELA-AU 5 38989007 38989007 single base substitution G A intron_variant MELA-AU 5 38989504 38989504 single base substitution A T intron_variant MELA-AU 5 38989791 38989791 single base substitution G A intron_variant MELA-AU 5 38990217 38990217 single base substitution G A intron_variant MELA-AU 5 38990413 38990414 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 38990606 38990606 single base substitution G A intron_variant MELA-AU 5 38992615 38992615 single base substitution A G intron_variant MELA-AU 5 38993100 38993100 single base substitution G A intron_variant MELA-AU 5 38993543 38993543 single base substitution G A intron_variant MELA-AU 5 38993769 38993769 single base substitution G A intron_variant MELA-AU 5 38994236 38994236 single base substitution G A intron_variant MELA-AU 5 38994449 38994449 single base substitution G A intron_variant MELA-AU 5 38994847 38994847 single base substitution T A intron_variant MELA-AU 5 38994879 38994879 single base substitution G A intron_variant MELA-AU 5 38996187 38996187 single base substitution G A intron_variant MELA-AU 5 38996189 38996189 single base substitution A G intron_variant MELA-AU 5 38996690 38996690 single base substitution A T intron_variant MELA-AU 5 38997087 38997087 single base substitution T C intron_variant MELA-AU 5 38997342 38997342 single base substitution G A intron_variant MELA-AU 5 38997493 38997493 single base substitution A G intron_variant MELA-AU 5 38999327 38999327 single base substitution G A intron_variant MELA-AU 5 38999358 38999358 single base substitution G A intron_variant MELA-AU 5 38999436 38999436 single base substitution C T intron_variant MELA-AU 5 38999623 38999623 single base substitution G A intron_variant MELA-AU 5 38999663 38999663 single base substitution G A intron_variant MELA-AU 5 38999686 38999686 single base substitution G A intron_variant MELA-AU 5 38999935 38999935 single base substitution G A intron_variant MELA-AU 5 39000022 39000022 single base substitution G A intron_variant MELA-AU 5 39000116 39000116 single base substitution G A intron_variant MELA-AU 5 39000485 39000485 single base substitution A G intron_variant MELA-AU 5 39001326 39001326 single base substitution A T intron_variant MELA-AU 5 39001347 39001348 multiple base substitution (>=2bp and <=200bp) AC TA intron_variant MELA-AU 5 39001360 39001360 single base substitution G A intron_variant MELA-AU 5 39002457 39002457 single base substitution G A intron_variant MELA-AU 5 39002502 39002502 single base substitution G A intron_variant MELA-AU 5 39002628 39002628 single base substitution G A intron_variant MELA-AU 5 39002845 39002845 single base substitution C T intron_variant MELA-AU 5 39003005 39003005 single base substitution G T intron_variant MELA-AU 5 39003048 39003048 single base substitution G A intron_variant MELA-AU 5 39003642 39003642 single base substitution G A intron_variant MELA-AU 5 39003823 39003823 single base substitution G A intron_variant MELA-AU 5 39003844 39003844 single base substitution G A intron_variant MELA-AU 5 39004111 39004111 single base substitution C T intron_variant MELA-AU 5 39004416 39004416 single base substitution G A intron_variant MELA-AU 5 39005793 39005793 single base substitution C T intron_variant MELA-AU 5 39006043 39006043 single base substitution G A intron_variant MELA-AU 5 39006172 39006172 single base substitution T C intron_variant MELA-AU 5 39007373 39007373 single base substitution G A intron_variant MELA-AU 5 39007398 39007398 single base substitution C T intron_variant MELA-AU 5 39008296 39008296 single base substitution G A intron_variant MELA-AU 5 39008553 39008553 single base substitution A G intron_variant MELA-AU 5 39010024 39010024 single base substitution G A intron_variant MELA-AU 5 39010830 39010830 single base substitution G A intron_variant MELA-AU 5 39010936 39010936 single base substitution A G intron_variant MELA-AU 5 39011197 39011197 single base substitution G A intron_variant MELA-AU 5 39011229 39011229 single base substitution G A intron_variant MELA-AU 5 39011508 39011508 single base substitution G A intron_variant MELA-AU 5 39011573 39011573 single base substitution G A intron_variant MELA-AU 5 39011604 39011604 single base substitution G C intron_variant MELA-AU 5 39011796 39011796 single base substitution G A intron_variant MELA-AU 5 39011973 39011973 single base substitution G A intron_variant MELA-AU 5 39012218 39012218 single base substitution G A intron_variant MELA-AU 5 39012244 39012244 single base substitution G A intron_variant MELA-AU 5 39012264 39012264 single base substitution G A intron_variant MELA-AU 5 39012284 39012284 single base substitution C A intron_variant MELA-AU 5 39012517 39012517 single base substitution T C intron_variant MELA-AU 5 39013402 39013402 single base substitution G A intron_variant MELA-AU 5 39013521 39013521 single base substitution A G intron_variant MELA-AU 5 39014459 39014459 single base substitution A T intron_variant MELA-AU 5 39014581 39014581 single base substitution A G intron_variant MELA-AU 5 39014602 39014602 single base substitution A G intron_variant MELA-AU 5 39016606 39016606 single base substitution G A intron_variant MELA-AU 5 39016792 39016792 single base substitution C T intron_variant MELA-AU 5 39017377 39017377 single base substitution G A intron_variant MELA-AU 5 39017447 39017447 single base substitution A T intron_variant MELA-AU 5 39017459 39017459 single base substitution A G intron_variant MELA-AU 5 39017858 39017858 single base substitution C T intron_variant MELA-AU 5 39018338 39018338 single base substitution G A intron_variant MELA-AU 5 39018903 39018903 single base substitution G A intron_variant MELA-AU 5 39019259 39019259 single base substitution G A intron_variant MELA-AU 5 39019855 39019855 single base substitution G A intron_variant MELA-AU 5 39019975 39019975 single base substitution G A intron_variant MELA-AU 5 39020417 39020417 single base substitution G T intron_variant MELA-AU 5 39020664 39020664 single base substitution T A intron_variant MELA-AU 5 39020967 39020967 single base substitution T C intron_variant MELA-AU 5 39021613 39021613 single base substitution G A intron_variant MELA-AU 5 39021987 39021987 single base substitution G A intron_variant MELA-AU 5 39022587 39022587 single base substitution G A intron_variant MELA-AU 5 39023479 39023479 single base substitution G A intron_variant MELA-AU 5 39023557 39023557 insertion of <=200bp - A intron_variant MELA-AU 5 39023682 39023682 single base substitution A T intron_variant MELA-AU 5 39024163 39024186 deletion of <=200bp CAGGCATTAGATTCTCATAAGGAG - intron_variant MELA-AU 5 39024193 39024193 single base substitution A G intron_variant MELA-AU 5 39024366 39024366 single base substitution G A intron_variant MELA-AU 5 39024485 39024485 single base substitution A C intron_variant MELA-AU 5 39024801 39024801 single base substitution T C intron_variant MELA-AU 5 39024819 39024819 single base substitution G A intron_variant MELA-AU 5 39024871 39024871 single base substitution A G intron_variant MELA-AU 5 39026216 39026216 single base substitution A G intron_variant MELA-AU 5 39027342 39027342 single base substitution G A intron_variant MELA-AU 5 39027357 39027357 single base substitution G A intron_variant MELA-AU 5 39027788 39027788 single base substitution G A intron_variant MELA-AU 5 39027960 39027960 single base substitution G A intron_variant MELA-AU 5 39028173 39028173 single base substitution G A intron_variant MELA-AU 5 39029230 39029230 single base substitution G A intron_variant MELA-AU 5 39031060 39031060 single base substitution G A intron_variant MELA-AU 5 39032236 39032236 single base substitution G A intron_variant MELA-AU 5 39032751 39032751 single base substitution G A intron_variant MELA-AU 5 39033377 39033377 single base substitution G A intron_variant MELA-AU 5 39034070 39034070 single base substitution C T intron_variant MELA-AU 5 39034652 39034652 single base substitution G A intron_variant MELA-AU 5 39034790 39034790 single base substitution G A intron_variant MELA-AU 5 39034954 39034954 single base substitution G A intron_variant MELA-AU 5 39035335 39035335 single base substitution G A intron_variant MELA-AU 5 39035731 39035731 single base substitution G A intron_variant MELA-AU 5 39035770 39035770 single base substitution G A intron_variant MELA-AU 5 39035971 39035971 single base substitution G A intron_variant MELA-AU 5 39036477 39036477 single base substitution A T intron_variant MELA-AU 5 39037249 39037249 single base substitution C T intron_variant MELA-AU 5 39037333 39037333 single base substitution G C intron_variant MELA-AU 5 39037898 39037899 multiple base substitution (>=2bp and <=200bp) TA AC intron_variant MELA-AU 5 39038154 39038154 single base substitution T C intron_variant MELA-AU 5 39040429 39040429 single base substitution G A intron_variant MELA-AU 5 39041243 39041243 single base substitution G A intron_variant MELA-AU 5 39041389 39041389 single base substitution G A intron_variant MELA-AU 5 39041978 39041978 single base substitution G A intron_variant MELA-AU 5 39043242 39043242 single base substitution G A intron_variant MELA-AU 5 39043360 39043360 single base substitution G A intron_variant MELA-AU 5 39043391 39043392 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 39043700 39043700 single base substitution G A intron_variant MELA-AU 5 39043767 39043767 single base substitution G A intron_variant MELA-AU 5 39044033 39044033 single base substitution G A intron_variant MELA-AU 5 39045778 39045778 single base substitution G A intron_variant MELA-AU 5 39046241 39046242 multiple base substitution (>=2bp and <=200bp) CA AT intron_variant MELA-AU 5 39046962 39046962 single base substitution G A intron_variant MELA-AU 5 39047362 39047363 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 39048116 39048116 single base substitution G A intron_variant MELA-AU 5 39048456 39048456 single base substitution T C intron_variant MELA-AU 5 39048966 39048966 single base substitution G A intron_variant MELA-AU 5 39049284 39049284 single base substitution A G intron_variant MELA-AU 5 39050085 39050085 single base substitution G A intron_variant MELA-AU 5 39050376 39050376 single base substitution G A intron_variant MELA-AU 5 39051415 39051416 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 39051579 39051579 single base substitution G A intron_variant MELA-AU 5 39051700 39051700 single base substitution A T intron_variant MELA-AU 5 39051837 39051837 single base substitution G A intron_variant MELA-AU 5 39052570 39052570 single base substitution G A intron_variant MELA-AU 5 39052726 39052726 single base substitution T A intron_variant MELA-AU 5 39052728 39052728 single base substitution T A intron_variant MELA-AU 5 39053060 39053060 single base substitution G A intron_variant MELA-AU 5 39053079 39053079 single base substitution A T intron_variant MELA-AU 5 39053422 39053422 single base substitution A G intron_variant MELA-AU 5 39054139 39054139 single base substitution G A intron_variant MELA-AU 5 39054325 39054325 single base substitution G A intron_variant MELA-AU 5 39055044 39055044 single base substitution G A intron_variant MELA-AU 5 39055459 39055459 single base substitution C T intron_variant MELA-AU 5 39055890 39055890 single base substitution G A intron_variant MELA-AU 5 39056083 39056083 single base substitution T C intron_variant MELA-AU 5 39056127 39056127 deletion of <=200bp A - intron_variant MELA-AU 5 39056758 39056758 single base substitution G A intron_variant MELA-AU 5 39056873 39056873 single base substitution T A intron_variant MELA-AU 5 39056917 39056917 single base substitution G A intron_variant MELA-AU 5 39057145 39057145 single base substitution G A intron_variant MELA-AU 5 39057290 39057290 single base substitution G A intron_variant MELA-AU 5 39059012 39059012 single base substitution A T intron_variant MELA-AU 5 39059014 39059014 single base substitution A G intron_variant MELA-AU 5 39059018 39059018 single base substitution T G intron_variant MELA-AU 5 39059835 39059835 single base substitution G A intron_variant MELA-AU 5 39060522 39060522 single base substitution G A intron_variant MELA-AU 5 39061109 39061109 single base substitution G A intron_variant MELA-AU 5 39061753 39061753 single base substitution G A intron_variant MELA-AU 5 39061776 39061777 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 39061818 39061818 single base substitution A G intron_variant MELA-AU 5 39062404 39062404 single base substitution G A intron_variant MELA-AU 5 39065110 39065110 single base substitution A C intron_variant MELA-AU 5 39066130 39066130 single base substitution G A intron_variant MELA-AU 5 39067437 39067437 single base substitution G A intron_variant MELA-AU 5 39067473 39067474 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 39068018 39068018 single base substitution G A intron_variant MELA-AU 5 39068206 39068206 single base substitution C T intron_variant MELA-AU 5 39068623 39068623 single base substitution T C intron_variant MELA-AU 5 39068718 39068718 single base substitution G A intron_variant MELA-AU 5 39068863 39068863 single base substitution G C intron_variant MELA-AU 5 39068888 39068888 single base substitution G A intron_variant MELA-AU 5 39068966 39068966 single base substitution G A intron_variant MELA-AU 5 39069501 39069501 single base substitution G A intron_variant MELA-AU 5 39069502 39069502 single base substitution G A intron_variant MELA-AU 5 39069987 39069987 single base substitution G A intron_variant MELA-AU 5 39070765 39070765 single base substitution A G intron_variant MELA-AU 5 39071648 39071648 single base substitution C T intron_variant MELA-AU 5 39071673 39071673 single base substitution C T intron_variant MELA-AU 5 39075735 39075735 single base substitution A G upstream_gene_variant MELA-AU 5 39075933 39075933 single base substitution G A upstream_gene_variant MELA-AU 5 39076481 39076481 single base substitution C T upstream_gene_variant MELA-AU 5 39076596 39076596 single base substitution C T upstream_gene_variant MELA-AU 5 39076682 39076682 single base substitution C T upstream_gene_variant MELA-AU 5 39076708 39076708 single base substitution T G upstream_gene_variant MELA-AU 5 39076742 39076742 single base substitution T A upstream_gene_variant MELA-AU 5 39076790 39076790 insertion of <=200bp - A upstream_gene_variant MELA-AU 5 39076902 39076902 single base substitution G A upstream_gene_variant MELA-AU 5 39077243 39077243 single base substitution C T upstream_gene_variant MELA-AU 5 39078472 39078472 single base substitution G A upstream_gene_variant MELA-AU 5 39078764 39078764 single base substitution C T upstream_gene_variant MELA-AU 5 39078898 39078899 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 39078952 39078952 single base substitution G A upstream_gene_variant MELA-AU 5 39079171 39079171 single base substitution C T upstream_gene_variant MELA-AU 5 39079326 39079326 single base substitution C T upstream_gene_variant MELA-AU 5 39079455 39079455 single base substitution C T upstream_gene_variant ORCA-IN 5 38979270 38979270 single base substitution C G downstream_gene_variant ORCA-IN 5 38979270 38979270 single base substitution C G intron_variant ORCA-IN 5 38987911 38987911 single base substitution T G intron_variant ORCA-IN 5 39028084 39028084 single base substitution A T intron_variant ORCA-IN 5 39030095 39030095 single base substitution C T intron_variant ORCA-IN 5 39030636 39030636 single base substitution C T intron_variant ORCA-IN 5 39035766 39035766 single base substitution T G intron_variant ORCA-IN 5 39071564 39071564 single base substitution G T intron_variant OV-AU 5 38933448 38933448 single base substitution C G downstream_gene_variant OV-AU 5 38938487 38938487 single base substitution C G 3_prime_UTR_variant OV-AU 5 38938487 38938487 single base substitution C G downstream_gene_variant OV-AU 5 38938927 38938927 single base substitution C A 3_prime_UTR_variant OV-AU 5 38938927 38938927 single base substitution C A downstream_gene_variant OV-AU 5 38951574 38951574 single base substitution C A downstream_gene_variant OV-AU 5 38951574 38951574 single base substitution C A intron_variant OV-AU 5 38960822 38960822 single base substitution C T downstream_gene_variant OV-AU 5 38960822 38960822 single base substitution C T intron_variant OV-AU 5 38960822 38960822 single base substitution C T upstream_gene_variant OV-AU 5 38964931 38964931 single base substitution T G 3_prime_UTR_variant OV-AU 5 38964931 38964931 single base substitution T G downstream_gene_variant OV-AU 5 38964931 38964931 single base substitution T G exon_variant OV-AU 5 38964931 38964931 single base substitution T G missense_variant M455L 1363A>C OV-AU 5 38969866 38969866 single base substitution G A exon_variant OV-AU 5 38969866 38969866 single base substitution G A intron_variant OV-AU 5 38979860 38979860 single base substitution C T downstream_gene_variant OV-AU 5 38979860 38979860 single base substitution C T intron_variant OV-AU 5 38980926 38980926 single base substitution C A downstream_gene_variant OV-AU 5 38980926 38980926 single base substitution C A intron_variant OV-AU 5 38983682 38983682 single base substitution T C intron_variant OV-AU 5 38987140 38987140 single base substitution G A intron_variant OV-AU 5 38987475 38987475 single base substitution G C intron_variant OV-AU 5 38991520 38991520 single base substitution T A intron_variant OV-AU 5 38994465 38994465 single base substitution C A intron_variant OV-AU 5 38994499 38994499 single base substitution A T intron_variant OV-AU 5 38995116 38995116 single base substitution G A intron_variant OV-AU 5 39011068 39011068 single base substitution C T intron_variant OV-AU 5 39028039 39028039 single base substitution A G intron_variant OV-AU 5 39041061 39041061 single base substitution A T intron_variant OV-AU 5 39042456 39042456 single base substitution G T intron_variant OV-AU 5 39042742 39042742 single base substitution T A intron_variant OV-AU 5 39046390 39046390 single base substitution C T intron_variant OV-AU 5 39046497 39046497 single base substitution A C intron_variant OV-AU 5 39048040 39048040 single base substitution T C intron_variant OV-AU 5 39050379 39050379 single base substitution A T intron_variant OV-AU 5 39056738 39056738 single base substitution C G intron_variant OV-AU 5 39057339 39057339 single base substitution C A intron_variant OV-AU 5 39059413 39059413 single base substitution C T intron_variant OV-AU 5 39063798 39063798 single base substitution G C intron_variant OV-AU 5 39063806 39063806 single base substitution C T intron_variant OV-AU 5 39065624 39065624 single base substitution C A intron_variant OV-AU 5 39065625 39065625 single base substitution C A intron_variant OV-AU 5 39074593 39074593 single base substitution C G upstream_gene_variant PACA-AU 5 38933163 38933163 single base substitution T G downstream_gene_variant PACA-AU 5 38937424 38937424 single base substitution C T downstream_gene_variant PACA-AU 5 38945744 38945744 single base substitution A T intron_variant PACA-AU 5 38945744 38945744 single base substitution A T missense_variant N1494K 4482T>A PACA-AU 5 38945744 38945744 single base substitution A T missense_variant N1518K 4554T>A PACA-AU 5 38945744 38945744 single base substitution A T upstream_gene_variant PACA-AU 5 38946567 38946567 single base substitution T C splice_region_variant PACA-AU 5 38946567 38946567 single base substitution T C upstream_gene_variant PACA-AU 5 38955032 38955032 single base substitution T A intron_variant PACA-AU 5 38955431 38955431 single base substitution A G intron_variant PACA-AU 5 38960299 38960299 single base substitution G C downstream_gene_variant PACA-AU 5 38960299 38960299 single base substitution G C intron_variant PACA-AU 5 38960299 38960299 single base substitution G C upstream_gene_variant PACA-AU 5 38964378 38964378 single base substitution C T downstream_gene_variant PACA-AU 5 38964378 38964378 single base substitution C T intron_variant PACA-AU 5 38964378 38964378 single base substitution C T upstream_gene_variant PACA-AU 5 38968586 38968586 single base substitution A C downstream_gene_variant PACA-AU 5 38968586 38968586 single base substitution A C intron_variant PACA-AU 5 38972098 38972098 single base substitution G T intron_variant PACA-AU 5 38972098 38972098 single base substitution G T upstream_gene_variant PACA-AU 5 38978659 38978659 single base substitution A G downstream_gene_variant PACA-AU 5 38978659 38978659 single base substitution A G intron_variant PACA-AU 5 38978758 38978758 single base substitution T A downstream_gene_variant PACA-AU 5 38978758 38978758 single base substitution T A splice_region_variant PACA-AU 5 38985072 38985072 single base substitution T A intron_variant PACA-AU 5 38991799 38991799 single base substitution G A intron_variant PACA-AU 5 38993302 38993302 single base substitution C A intron_variant PACA-AU 5 39000005 39000005 deletion of <=200bp A - intron_variant PACA-AU 5 39003050 39003050 single base substitution A C intron_variant PACA-AU 5 39013171 39013171 single base substitution C G intron_variant PACA-AU 5 39013516 39013516 single base substitution A G intron_variant PACA-AU 5 39016770 39016770 single base substitution A G intron_variant PACA-AU 5 39018996 39019003 deletion of <=200bp CAACTTGT - intron_variant PACA-AU 5 39019180 39019180 single base substitution C A intron_variant PACA-AU 5 39023193 39023193 deletion of <=200bp C - intron_variant PACA-AU 5 39026734 39026734 single base substitution C T intron_variant PACA-AU 5 39027930 39027930 single base substitution C T intron_variant PACA-AU 5 39031867 39031867 single base substitution C T intron_variant PACA-AU 5 39033315 39033315 single base substitution C G intron_variant PACA-AU 5 39036315 39036315 single base substitution A G intron_variant PACA-AU 5 39037165 39037165 insertion of <=200bp - G intron_variant PACA-AU 5 39041750 39041750 single base substitution T C intron_variant PACA-AU 5 39046159 39046159 single base substitution A G intron_variant PACA-AU 5 39046306 39046306 single base substitution A C intron_variant PACA-AU 5 39047424 39047424 single base substitution G A intron_variant PACA-AU 5 39069447 39069447 single base substitution G A intron_variant PACA-AU 5 39069649 39069649 single base substitution T C intron_variant PACA-AU 5 39070705 39070705 single base substitution C T intron_variant PACA-AU 5 39071328 39071328 single base substitution A G intron_variant PACA-AU 5 39071343 39071343 single base substitution T G intron_variant PACA-AU 5 39074456 39074461 deletion of <=200bp GCGGCC - exon_variant PACA-AU 5 39074456 39074461 deletion of <=200bp GCGGCC - inframe_deletion GR7 PACA-AU 5 39075474 39075491 deletion of <=200bp CTTTCTCTTGAACTACAT - upstream_gene_variant PACA-AU 5 39078720 39078720 single base substitution A G upstream_gene_variant PACA-CA 5 38933800 38933800 single base substitution C T downstream_gene_variant PACA-CA 5 38934079 38934079 single base substitution A C downstream_gene_variant PACA-CA 5 38938142 38938142 insertion of <=200bp - A 3_prime_UTR_variant PACA-CA 5 38938142 38938142 insertion of <=200bp - A downstream_gene_variant PACA-CA 5 38940003 38940003 single base substitution C A 3_prime_UTR_variant PACA-CA 5 38940003 38940003 single base substitution C A downstream_gene_variant PACA-CA 5 38948975 38948975 single base substitution G C intron_variant PACA-CA 5 38956250 38956250 single base substitution C T intron_variant PACA-CA 5 38958807 38958807 single base substitution C T 3_prime_UTR_variant PACA-CA 5 38958807 38958807 single base substitution C T downstream_gene_variant PACA-CA 5 38958807 38958807 single base substitution C T exon_variant PACA-CA 5 38958807 38958807 single base substitution C T missense_variant E769K 2305G>A PACA-CA 5 38960811 38960811 single base substitution C T downstream_gene_variant PACA-CA 5 38960811 38960811 single base substitution C T intron_variant PACA-CA 5 38960811 38960811 single base substitution C T upstream_gene_variant PACA-CA 5 38962984 38962984 single base substitution G T 3_prime_UTR_variant PACA-CA 5 38962984 38962984 single base substitution G T downstream_gene_variant PACA-CA 5 38962984 38962984 single base substitution G T synonymous_variant I520I 1560C>A PACA-CA 5 38962984 38962984 single base substitution G T upstream_gene_variant PACA-CA 5 38965599 38965599 single base substitution T C downstream_gene_variant PACA-CA 5 38965599 38965599 single base substitution T C intron_variant PACA-CA 5 38966210 38966210 insertion of <=200bp - A downstream_gene_variant PACA-CA 5 38966210 38966210 insertion of <=200bp - A intron_variant PACA-CA 5 38972410 38972410 single base substitution C T intron_variant PACA-CA 5 38972410 38972410 single base substitution C T upstream_gene_variant PACA-CA 5 38978377 38978377 single base substitution G A downstream_gene_variant PACA-CA 5 38978377 38978377 single base substitution G A intron_variant PACA-CA 5 38978395 38978395 single base substitution T G downstream_gene_variant PACA-CA 5 38978395 38978395 single base substitution T G intron_variant PACA-CA 5 38984357 38984357 single base substitution C G intron_variant PACA-CA 5 38987920 38987920 single base substitution T G intron_variant PACA-CA 5 38993502 38993502 single base substitution A G intron_variant PACA-CA 5 38995896 38995896 single base substitution T A intron_variant PACA-CA 5 38996114 38996114 single base substitution G A intron_variant PACA-CA 5 38999074 38999074 single base substitution C T intron_variant PACA-CA 5 39001719 39001719 single base substitution T C intron_variant PACA-CA 5 39002821 39002821 single base substitution A C intron_variant PACA-CA 5 39006315 39006315 single base substitution G A intron_variant PACA-CA 5 39009923 39009923 single base substitution T C intron_variant PACA-CA 5 39012181 39012181 single base substitution C A intron_variant PACA-CA 5 39014165 39014165 single base substitution C A intron_variant PACA-CA 5 39017396 39017396 single base substitution G T intron_variant PACA-CA 5 39019786 39019786 single base substitution G C intron_variant PACA-CA 5 39023189 39023189 single base substitution A G intron_variant PACA-CA 5 39023387 39023387 single base substitution G T intron_variant PACA-CA 5 39026484 39026484 single base substitution A G intron_variant PACA-CA 5 39026500 39026500 single base substitution C T intron_variant PACA-CA 5 39027664 39027664 single base substitution A G intron_variant PACA-CA 5 39033689 39033689 single base substitution T C intron_variant PACA-CA 5 39034385 39034385 single base substitution T C intron_variant PACA-CA 5 39038311 39038311 single base substitution A T intron_variant PACA-CA 5 39038674 39038674 single base substitution C T intron_variant PACA-CA 5 39038682 39038682 single base substitution C A intron_variant PACA-CA 5 39041950 39041950 single base substitution G A intron_variant PACA-CA 5 39043455 39043455 single base substitution A C intron_variant PACA-CA 5 39045100 39045100 single base substitution G A intron_variant PACA-CA 5 39045107 39045107 single base substitution G A intron_variant PACA-CA 5 39046152 39046152 insertion of <=200bp - ATAAATAAATAAATAG intron_variant PACA-CA 5 39046395 39046395 single base substitution G A intron_variant PACA-CA 5 39046912 39046912 single base substitution A G intron_variant PACA-CA 5 39050507 39050507 single base substitution C T intron_variant PACA-CA 5 39054108 39054108 single base substitution C T intron_variant PACA-CA 5 39055362 39055362 single base substitution T A intron_variant PACA-CA 5 39056208 39056208 single base substitution C A intron_variant PACA-CA 5 39060647 39060647 single base substitution C T intron_variant PACA-CA 5 39066193 39066193 single base substitution C T intron_variant PACA-CA 5 39071201 39071201 single base substitution C A intron_variant PACA-CA 5 39074186 39074186 single base substitution C G intron_variant PACA-CA 5 39074915 39074915 single base substitution T C upstream_gene_variant PACA-CA 5 39079023 39079023 deletion of <=200bp A - upstream_gene_variant PAEN-AU 5 38977773 38977773 single base substitution A T downstream_gene_variant PAEN-AU 5 38977773 38977773 single base substitution A T intron_variant PAEN-AU 5 39006293 39006293 single base substitution C G intron_variant PAEN-AU 5 39012205 39012205 single base substitution C G intron_variant PAEN-AU 5 39074532 39074532 single base substitution C T upstream_gene_variant PAEN-IT 5 38950967 38950967 single base substitution T A downstream_gene_variant PAEN-IT 5 38950967 38950967 single base substitution T A intron_variant PAEN-IT 5 38961621 38961621 single base substitution T C downstream_gene_variant PAEN-IT 5 38961621 38961621 single base substitution T C intron_variant PAEN-IT 5 38961621 38961621 single base substitution T C upstream_gene_variant PAEN-IT 5 38964904 38964904 single base substitution C T 3_prime_UTR_variant PAEN-IT 5 38964904 38964904 single base substitution C T downstream_gene_variant PAEN-IT 5 38964904 38964904 single base substitution C T exon_variant PAEN-IT 5 38964904 38964904 single base substitution C T missense_variant E464K 1390G>A PAEN-IT 5 38969547 38969547 single base substitution T C downstream_gene_variant PAEN-IT 5 38969547 38969547 single base substitution T C intron_variant PAEN-IT 5 38981477 38981477 single base substitution T C downstream_gene_variant PAEN-IT 5 38981477 38981477 single base substitution T C exon_variant PAEN-IT 5 38981477 38981477 single base substitution T C intron_variant PBCA-DE 5 38943615 38943615 deletion of <=200bp A - intron_variant PBCA-DE 5 38943615 38943615 deletion of <=200bp A - upstream_gene_variant PBCA-DE 5 38945713 38945713 single base substitution C T missense_variant E1505K 4513G>A PBCA-DE 5 38945713 38945713 single base substitution C T missense_variant E1529K 4585G>A PBCA-DE 5 38945713 38945713 single base substitution C T splice_acceptor_variant PBCA-DE 5 38945713 38945713 single base substitution C T upstream_gene_variant PBCA-DE 5 38948209 38948209 single base substitution T C intron_variant PBCA-DE 5 38948209 38948209 single base substitution T C upstream_gene_variant PBCA-DE 5 38950099 38950099 single base substitution G A 3_prime_UTR_variant PBCA-DE 5 38950099 38950099 single base substitution G A downstream_gene_variant PBCA-DE 5 38950099 38950099 single base substitution G A missense_variant S1284L 3851C>T PBCA-DE 5 38952329 38952329 single base substitution T C 3_prime_UTR_variant PBCA-DE 5 38952329 38952329 single base substitution T C downstream_gene_variant PBCA-DE 5 38952329 38952329 single base substitution T C synonymous_variant R1032R 3096A>G PBCA-DE 5 38955295 38955295 single base substitution G A intron_variant PBCA-DE 5 38958387 38958387 insertion of <=200bp - A downstream_gene_variant PBCA-DE 5 38958387 38958387 insertion of <=200bp - A intron_variant PBCA-DE 5 38958681 38958681 single base substitution C A downstream_gene_variant PBCA-DE 5 38958681 38958681 single base substitution C A intron_variant PBCA-DE 5 38965417 38965417 single base substitution C A downstream_gene_variant PBCA-DE 5 38965417 38965417 single base substitution C A intron_variant PBCA-DE 5 38971412 38971412 single base substitution G A exon_variant PBCA-DE 5 38971412 38971412 single base substitution G A intron_variant PBCA-DE 5 38971412 38971412 single base substitution G A upstream_gene_variant PBCA-DE 5 38977215 38977215 single base substitution G A downstream_gene_variant PBCA-DE 5 38977215 38977215 single base substitution G A intron_variant PBCA-DE 5 38990779 38990779 single base substitution G T intron_variant PBCA-DE 5 38990786 38990786 single base substitution C G intron_variant PBCA-DE 5 38990830 38990831 deletion of <=200bp AT - intron_variant PBCA-DE 5 38990847 38990847 single base substitution G C intron_variant PBCA-DE 5 38990863 38990863 single base substitution A C intron_variant PBCA-DE 5 38999394 38999394 deletion of <=200bp A - intron_variant PBCA-DE 5 39009379 39009379 single base substitution C T intron_variant PBCA-DE 5 39022721 39022721 single base substitution G A intron_variant PBCA-DE 5 39027926 39027926 single base substitution A T intron_variant PBCA-DE 5 39058399 39058399 deletion of <=200bp A - intron_variant PBCA-DE 5 39059645 39059645 single base substitution C A intron_variant PBCA-DE 5 39063720 39063720 single base substitution T C intron_variant PBCA-DE 5 39071450 39071450 insertion of <=200bp - A intron_variant PRAD-CA 5 38940245 38940245 single base substitution C A 3_prime_UTR_variant PRAD-CA 5 38940245 38940245 single base substitution C A downstream_gene_variant PRAD-CA 5 38969780 38969780 single base substitution T A downstream_gene_variant PRAD-CA 5 38969780 38969780 single base substitution T A intron_variant PRAD-CA 5 38973812 38973812 single base substitution C T intron_variant PRAD-CA 5 38973812 38973812 single base substitution C T upstream_gene_variant PRAD-CA 5 38990750 38990750 single base substitution G T intron_variant PRAD-CA 5 39002504 39002504 single base substitution A G intron_variant PRAD-CA 5 39019791 39019791 single base substitution T G intron_variant PRAD-CA 5 39021335 39021335 single base substitution C A intron_variant PRAD-CA 5 39031749 39031749 single base substitution G C intron_variant PRAD-CA 5 39047628 39047628 single base substitution A G intron_variant PRAD-CA 5 39051326 39051326 single base substitution G T intron_variant PRAD-CA 5 39061547 39061547 single base substitution T A intron_variant PRAD-CA 5 39073599 39073599 single base substitution G A intron_variant PRAD-UK 5 38936050 38936050 single base substitution G T downstream_gene_variant PRAD-UK 5 38940226 38940226 single base substitution T C 3_prime_UTR_variant PRAD-UK 5 38940226 38940226 single base substitution T C downstream_gene_variant PRAD-UK 5 38941654 38941654 single base substitution A C 3_prime_UTR_variant PRAD-UK 5 38941654 38941654 single base substitution A C downstream_gene_variant PRAD-UK 5 38952029 38952029 single base substitution A C downstream_gene_variant PRAD-UK 5 38952029 38952029 single base substitution A C intron_variant PRAD-UK 5 38962286 38962286 single base substitution A C downstream_gene_variant PRAD-UK 5 38962286 38962286 single base substitution A C intron_variant PRAD-UK 5 38962286 38962286 single base substitution A C upstream_gene_variant PRAD-UK 5 38984708 38984708 single base substitution A G intron_variant PRAD-UK 5 38985507 38985507 single base substitution T C intron_variant PRAD-UK 5 38985644 38985644 single base substitution T C intron_variant PRAD-UK 5 38990768 38990768 insertion of <=200bp - GATATATATGATATATCTGATATATATCATATCT intron_variant PRAD-UK 5 39012603 39012603 single base substitution G C intron_variant PRAD-UK 5 39021540 39021540 single base substitution C T intron_variant PRAD-UK 5 39035185 39035185 single base substitution C G intron_variant PRAD-UK 5 39036523 39036523 single base substitution T C intron_variant PRAD-UK 5 39044511 39044511 single base substitution C G intron_variant PRAD-UK 5 39044522 39044522 single base substitution C G intron_variant PRAD-UK 5 39060167 39060167 insertion of <=200bp - A intron_variant PRAD-UK 5 39062585 39062590 deletion of <=200bp TTATAG - intron_variant PRAD-UK 5 39072555 39072555 single base substitution T C intron_variant PRAD-US 5 38945049 38945049 single base substitution T G 3_prime_UTR_variant PRAD-US 5 38945049 38945049 single base substitution T G synonymous_variant S1585S 4755A>C PRAD-US 5 38945049 38945049 single base substitution T G synonymous_variant S1609S 4827A>C PRAD-US 5 38945049 38945049 single base substitution T G upstream_gene_variant READ-US 5 38947528 38947528 single base substitution T C 3_prime_UTR_variant READ-US 5 38947528 38947528 single base substitution T C synonymous_variant L1384L 4152A>G READ-US 5 38947528 38947528 single base substitution T C synonymous_variant L1408L 4224A>G READ-US 5 38947528 38947528 single base substitution T C upstream_gene_variant READ-US 5 38953643 38953643 single base substitution C A 3_prime_UTR_variant READ-US 5 38953643 38953643 single base substitution C A downstream_gene_variant READ-US 5 38953643 38953643 single base substitution C A stop_gained E904* 2710G>T READ-US 5 38955713 38955713 single base substitution G A 3_prime_UTR_variant READ-US 5 38955713 38955713 single base substitution G A exon_variant READ-US 5 38955713 38955713 single base substitution G A missense_variant R865C 2593C>T READ-US 5 38960627 38960627 single base substitution C T 3_prime_UTR_variant READ-US 5 38960627 38960627 single base substitution C T downstream_gene_variant READ-US 5 38960627 38960627 single base substitution C T missense_variant R575Q 1724G>A READ-US 5 38960627 38960627 single base substitution C T upstream_gene_variant READ-US 5 38963006 38963006 single base substitution C T 3_prime_UTR_variant READ-US 5 38963006 38963006 single base substitution C T downstream_gene_variant READ-US 5 38963006 38963006 single base substitution C T missense_variant R513Q 1538G>A READ-US 5 38963006 38963006 single base substitution C T upstream_gene_variant RECA-EU 5 38936891 38936891 single base substitution A C downstream_gene_variant RECA-EU 5 38953255 38953255 single base substitution G T downstream_gene_variant RECA-EU 5 38953255 38953255 single base substitution G T intron_variant RECA-EU 5 38955299 38955299 single base substitution A G intron_variant RECA-EU 5 38961030 38961030 single base substitution C A downstream_gene_variant RECA-EU 5 38961030 38961030 single base substitution C A intron_variant RECA-EU 5 38961030 38961030 single base substitution C A upstream_gene_variant RECA-EU 5 38961067 38961067 single base substitution C T downstream_gene_variant RECA-EU 5 38961067 38961067 single base substitution C T intron_variant RECA-EU 5 38961067 38961067 single base substitution C T upstream_gene_variant RECA-EU 5 38975902 38975902 single base substitution A G intron_variant RECA-EU 5 38975902 38975902 single base substitution A G upstream_gene_variant RECA-EU 5 38985520 38985520 single base substitution G C intron_variant RECA-EU 5 38989706 38989706 single base substitution T C intron_variant RECA-EU 5 38994553 38994553 single base substitution A G intron_variant RECA-EU 5 38999145 38999145 single base substitution A C intron_variant RECA-EU 5 39008913 39008913 single base substitution C G intron_variant RECA-EU 5 39022550 39022550 single base substitution T G intron_variant RECA-EU 5 39038334 39038334 single base substitution C T intron_variant RECA-EU 5 39049924 39049924 single base substitution G T intron_variant RECA-EU 5 39058254 39058254 single base substitution T A intron_variant RECA-EU 5 39060015 39060015 single base substitution C A intron_variant RECA-EU 5 39062512 39062512 single base substitution A G intron_variant RECA-EU 5 39064616 39064616 single base substitution T G intron_variant RECA-EU 5 39066248 39066248 single base substitution C A intron_variant SKCA-BR 5 38934127 38934127 single base substitution C G downstream_gene_variant SKCA-BR 5 38937002 38937002 single base substitution A C downstream_gene_variant SKCA-BR 5 38937883 38937883 single base substitution A C downstream_gene_variant SKCA-BR 5 38941669 38941669 single base substitution G A 3_prime_UTR_variant SKCA-BR 5 38941669 38941669 single base substitution G A downstream_gene_variant SKCA-BR 5 38943330 38943330 single base substitution G A exon_variant SKCA-BR 5 38943330 38943330 single base substitution G A intron_variant SKCA-BR 5 38949696 38949696 single base substitution A G intron_variant SKCA-BR 5 38953481 38953481 single base substitution T A downstream_gene_variant SKCA-BR 5 38953481 38953481 single base substitution T A intron_variant SKCA-BR 5 38956052 38956052 single base substitution A C intron_variant SKCA-BR 5 38959520 38959520 single base substitution G C downstream_gene_variant SKCA-BR 5 38959520 38959520 single base substitution G C intron_variant SKCA-BR 5 38959520 38959520 single base substitution G C upstream_gene_variant SKCA-BR 5 38969057 38969057 single base substitution C G downstream_gene_variant SKCA-BR 5 38969057 38969057 single base substitution C G intron_variant SKCA-BR 5 38969768 38969768 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 5 38969768 38969768 insertion of <=200bp - AT intron_variant SKCA-BR 5 38970372 38970372 single base substitution G A exon_variant SKCA-BR 5 38970372 38970372 single base substitution G A intron_variant SKCA-BR 5 38971476 38971476 insertion of <=200bp - AT exon_variant SKCA-BR 5 38971476 38971476 insertion of <=200bp - AT intron_variant SKCA-BR 5 38971476 38971476 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 5 38972270 38972270 single base substitution G A intron_variant SKCA-BR 5 38972270 38972270 single base substitution G A upstream_gene_variant SKCA-BR 5 38977694 38977694 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 5 38977694 38977694 insertion of <=200bp - CT intron_variant SKCA-BR 5 38988986 38988986 single base substitution A T intron_variant SKCA-BR 5 38990625 38990625 insertion of <=200bp - TACGATATATAC intron_variant SKCA-BR 5 38990689 38990689 single base substitution T C intron_variant SKCA-BR 5 38990732 38990732 insertion of <=200bp - TATGATATATATCAGATATATGATATATATCAGATATATATCAGATATATCAGATATATGATATATATCAGATATATATATCTGATATATATC intron_variant SKCA-BR 5 38990733 38990737 deletion of <=200bp ATATC - intron_variant SKCA-BR 5 38990750 38990750 single base substitution G T intron_variant SKCA-BR 5 38990779 38990779 single base substitution G T intron_variant SKCA-BR 5 38990786 38990786 single base substitution C G intron_variant SKCA-BR 5 38990788 38990788 single base substitution T C intron_variant SKCA-BR 5 38990788 38990788 single base substitution T G intron_variant SKCA-BR 5 38990794 38990794 single base substitution T A intron_variant SKCA-BR 5 38990810 38990811 deletion of <=200bp TG - intron_variant SKCA-BR 5 38990818 38990818 single base substitution A C intron_variant SKCA-BR 5 38990829 38990831 deletion of <=200bp CAT - intron_variant SKCA-BR 5 38990836 38990836 single base substitution A C intron_variant SKCA-BR 5 38990845 38990845 single base substitution A C intron_variant SKCA-BR 5 38990847 38990847 single base substitution G C intron_variant SKCA-BR 5 38990863 38990863 single base substitution A C intron_variant SKCA-BR 5 38990871 38990875 deletion of <=200bp TATGA - intron_variant SKCA-BR 5 38995060 38995060 single base substitution C T intron_variant SKCA-BR 5 38995247 38995247 single base substitution G A intron_variant SKCA-BR 5 38995248 38995248 single base substitution G A intron_variant SKCA-BR 5 38995352 38995352 single base substitution A T intron_variant SKCA-BR 5 38999145 38999145 insertion of <=200bp - AC intron_variant SKCA-BR 5 38999969 38999969 single base substitution A C intron_variant SKCA-BR 5 39000226 39000226 single base substitution G A intron_variant SKCA-BR 5 39004566 39004566 insertion of <=200bp - CT intron_variant SKCA-BR 5 39005359 39005359 single base substitution C T intron_variant SKCA-BR 5 39005596 39005596 single base substitution C T intron_variant SKCA-BR 5 39009791 39009791 single base substitution G A intron_variant SKCA-BR 5 39012104 39012104 single base substitution G A intron_variant SKCA-BR 5 39017294 39017294 single base substitution A T intron_variant SKCA-BR 5 39017639 39017639 single base substitution C T intron_variant SKCA-BR 5 39018881 39018881 single base substitution G A intron_variant SKCA-BR 5 39026524 39026524 single base substitution G T intron_variant SKCA-BR 5 39028535 39028535 single base substitution C T intron_variant SKCA-BR 5 39033458 39033458 single base substitution T C intron_variant SKCA-BR 5 39034870 39034870 single base substitution A G intron_variant SKCA-BR 5 39035525 39035525 single base substitution C T intron_variant SKCA-BR 5 39037366 39037366 single base substitution A G intron_variant SKCA-BR 5 39042038 39042038 single base substitution G T intron_variant SKCA-BR 5 39046541 39046541 insertion of <=200bp - CT intron_variant SKCA-BR 5 39048327 39048327 single base substitution C T intron_variant SKCA-BR 5 39049013 39049013 single base substitution G A intron_variant SKCA-BR 5 39050680 39050680 single base substitution C G intron_variant SKCA-BR 5 39051945 39051945 single base substitution G A intron_variant SKCA-BR 5 39052236 39052236 single base substitution G A intron_variant SKCA-BR 5 39052624 39052624 single base substitution G A intron_variant SKCA-BR 5 39052699 39052699 single base substitution A G intron_variant SKCA-BR 5 39053061 39053061 single base substitution G A intron_variant SKCA-BR 5 39055519 39055519 insertion of <=200bp - TCC intron_variant SKCA-BR 5 39055519 39055519 insertion of <=200bp - TC intron_variant SKCA-BR 5 39059321 39059321 single base substitution T C intron_variant SKCA-BR 5 39064490 39064490 single base substitution C T intron_variant SKCA-BR 5 39064872 39064872 single base substitution G A intron_variant SKCA-BR 5 39074403 39074403 single base substitution T G intron_variant SKCA-BR 5 39074489 39074489 single base substitution T G 5_prime_UTR_variant SKCA-BR 5 39074489 39074489 single base substitution T G exon_variant SKCA-BR 5 39074624 39074624 single base substitution A C upstream_gene_variant SKCA-BR 5 39075416 39075416 single base substitution C T upstream_gene_variant SKCA-BR 5 39075420 39075420 single base substitution C G upstream_gene_variant SKCA-BR 5 39075422 39075422 single base substitution C T upstream_gene_variant SKCA-BR 5 39076961 39076961 single base substitution A G upstream_gene_variant SKCM-US 5 38933078 38933078 single base substitution G A downstream_gene_variant SKCM-US 5 38933161 38933161 single base substitution C T downstream_gene_variant SKCM-US 5 38933185 38933185 single base substitution C G downstream_gene_variant SKCM-US 5 38933286 38933286 single base substitution C T downstream_gene_variant SKCM-US 5 38933362 38933362 single base substitution C T downstream_gene_variant SKCM-US 5 38942419 38942419 single base substitution G A 3_prime_UTR_variant SKCM-US 5 38942419 38942419 single base substitution G A exon_variant SKCM-US 5 38942419 38942419 single base substitution G A missense_variant S1705F 5114C>T SKCM-US 5 38942419 38942419 single base substitution G A missense_variant S1729F 5186C>T SKCM-US 5 38945127 38945127 single base substitution G A 3_prime_UTR_variant SKCM-US 5 38945127 38945127 single base substitution G A synonymous_variant I1559I 4677C>T SKCM-US 5 38945127 38945127 single base substitution G A synonymous_variant I1583I 4749C>T SKCM-US 5 38945127 38945127 single base substitution G A upstream_gene_variant SKCM-US 5 38950648 38950648 single base substitution G A 3_prime_UTR_variant SKCM-US 5 38950648 38950648 single base substitution G A downstream_gene_variant SKCM-US 5 38950648 38950648 single base substitution G A missense_variant S1101L 3302C>T SKCM-US 5 38950723 38950723 single base substitution G A 3_prime_UTR_variant SKCM-US 5 38950723 38950723 single base substitution G A downstream_gene_variant SKCM-US 5 38950723 38950723 single base substitution G A missense_variant S1076F 3227C>T SKCM-US 5 38950758 38950758 single base substitution G A 3_prime_UTR_variant SKCM-US 5 38950758 38950758 single base substitution G A downstream_gene_variant SKCM-US 5 38950758 38950758 single base substitution G A synonymous_variant I1064I 3192C>T SKCM-US 5 38950766 38950766 single base substitution G A 3_prime_UTR_variant SKCM-US 5 38950766 38950766 single base substitution G A downstream_gene_variant SKCM-US 5 38950766 38950766 single base substitution G A missense_variant L1062F 3184C>T SKCM-US 5 38950815 38950815 single base substitution G A 3_prime_UTR_variant SKCM-US 5 38950815 38950815 single base substitution G A downstream_gene_variant SKCM-US 5 38950815 38950815 single base substitution G A synonymous_variant F1045F 3135C>T SKCM-US 5 38953653 38953653 single base substitution A G downstream_gene_variant SKCM-US 5 38953653 38953653 single base substitution A G splice_region_variant SKCM-US 5 38954908 38954908 single base substitution G A 3_prime_UTR_variant SKCM-US 5 38954908 38954908 single base substitution G A exon_variant SKCM-US 5 38954908 38954908 single base substitution G A missense_variant H889Y 2665C>T SKCM-US 5 38955747 38955747 single base substitution A G 3_prime_UTR_variant SKCM-US 5 38955747 38955747 single base substitution A G exon_variant SKCM-US 5 38955747 38955747 single base substitution A G synonymous_variant T853T 2559T>C SKCM-US 5 38958577 38958577 single base substitution G A 3_prime_UTR_variant SKCM-US 5 38958577 38958577 single base substitution G A downstream_gene_variant SKCM-US 5 38958577 38958577 single base substitution G A exon_variant SKCM-US 5 38958577 38958577 single base substitution G A synonymous_variant H796H 2388C>T SKCM-US 5 38963059 38963059 single base substitution G A 3_prime_UTR_variant SKCM-US 5 38963059 38963059 single base substitution G A downstream_gene_variant SKCM-US 5 38963059 38963059 single base substitution G A exon_variant SKCM-US 5 38963059 38963059 single base substitution G A synonymous_variant D495D 1485C>T SKCM-US 5 38963059 38963059 single base substitution G A upstream_gene_variant SKCM-US 5 38963106 38963106 single base substitution G A 3_prime_UTR_variant SKCM-US 5 38963106 38963106 single base substitution G A downstream_gene_variant SKCM-US 5 38963106 38963106 single base substitution G A exon_variant SKCM-US 5 38963106 38963106 single base substitution G A missense_variant H480Y 1438C>T SKCM-US 5 38963106 38963106 single base substitution G A upstream_gene_variant SKCM-US 5 38963125 38963125 single base substitution C G 3_prime_UTR_variant SKCM-US 5 38963125 38963125 single base substitution C G downstream_gene_variant SKCM-US 5 38963125 38963125 single base substitution C G exon_variant SKCM-US 5 38963125 38963125 single base substitution C G missense_variant L473F 1419G>C SKCM-US 5 38963125 38963125 single base substitution C G upstream_gene_variant SKCM-US 5 38964940 38964940 single base substitution G A 3_prime_UTR_variant SKCM-US 5 38964940 38964940 single base substitution G A downstream_gene_variant SKCM-US 5 38964940 38964940 single base substitution G A exon_variant SKCM-US 5 38964940 38964940 single base substitution G A synonymous_variant L452L 1354C>T SKCM-US 5 38967280 38967280 single base substitution G A 3_prime_UTR_variant SKCM-US 5 38967280 38967280 single base substitution G A downstream_gene_variant SKCM-US 5 38967280 38967280 single base substitution G A exon_variant SKCM-US 5 38967280 38967280 single base substitution G A missense_variant R401C 1201C>T SKCM-US 5 38975651 38975651 single base substitution G A 3_prime_UTR_variant SKCM-US 5 38975651 38975651 single base substitution G A exon_variant SKCM-US 5 38975651 38975651 single base substitution G A stop_gained R293* 877C>T SKCM-US 5 38975651 38975651 single base substitution G A upstream_gene_variant STAD-US 5 38942984 38942984 single base substitution G A 3_prime_UTR_variant STAD-US 5 38942984 38942984 single base substitution G A exon_variant STAD-US 5 38942984 38942984 single base substitution G A missense_variant P1668L 5003C>T STAD-US 5 38942984 38942984 single base substitution G A missense_variant P1692L 5075C>T STAD-US 5 38945599 38945599 single base substitution G A 3_prime_UTR_variant STAD-US 5 38945599 38945599 single base substitution G A missense_variant H1543Y 4627C>T STAD-US 5 38945599 38945599 single base substitution G A missense_variant H1567Y 4699C>T STAD-US 5 38945599 38945599 single base substitution G A upstream_gene_variant STAD-US 5 38945715 38945715 deletion of <=200bp A - frameshift_variant L1504 STAD-US 5 38945715 38945715 deletion of <=200bp A - frameshift_variant L1528 STAD-US 5 38945715 38945715 deletion of <=200bp A - splice_region_variant STAD-US 5 38945715 38945715 deletion of <=200bp A - upstream_gene_variant STAD-US 5 38945754 38945754 single base substitution T G intron_variant STAD-US 5 38945754 38945754 single base substitution T G missense_variant E1491A 4472A>C STAD-US 5 38945754 38945754 single base substitution T G missense_variant E1515A 4544A>C STAD-US 5 38945754 38945754 single base substitution T G upstream_gene_variant STAD-US 5 38946657 38946657 insertion of <=200bp - A splice_region_variant STAD-US 5 38946657 38946657 insertion of <=200bp - A upstream_gene_variant STAD-US 5 38947419 38947419 single base substitution A G 3_prime_UTR_variant STAD-US 5 38947419 38947419 single base substitution A G missense_variant S1421P 4261T>C STAD-US 5 38947419 38947419 single base substitution A G missense_variant S1445P 4333T>C STAD-US 5 38947419 38947419 single base substitution A G upstream_gene_variant STAD-US 5 38947433 38947433 single base substitution G A 3_prime_UTR_variant STAD-US 5 38947433 38947433 single base substitution G A missense_variant A1416V 4247C>T STAD-US 5 38947433 38947433 single base substitution G A missense_variant A1440V 4319C>T STAD-US 5 38947433 38947433 single base substitution G A upstream_gene_variant STAD-US 5 38947539 38947539 single base substitution T C 3_prime_UTR_variant STAD-US 5 38947539 38947539 single base substitution T C missense_variant M1381V 4141A>G STAD-US 5 38947539 38947539 single base substitution T C missense_variant M1405V 4213A>G STAD-US 5 38947539 38947539 single base substitution T C upstream_gene_variant STAD-US 5 38949500 38949500 deletion of <=200bp C - frameshift_variant G1389 STAD-US 5 38949500 38949500 deletion of <=200bp C - intron_variant STAD-US 5 38950621 38950621 single base substitution C T 3_prime_UTR_variant STAD-US 5 38950621 38950621 single base substitution C T downstream_gene_variant STAD-US 5 38950621 38950621 single base substitution C T missense_variant R1110H 3329G>A STAD-US 5 38952456 38952456 single base substitution C G 3_prime_UTR_variant STAD-US 5 38952456 38952456 single base substitution C G downstream_gene_variant STAD-US 5 38952456 38952456 single base substitution C G missense_variant W990S 2969G>C STAD-US 5 38958851 38958851 single base substitution A G 3_prime_UTR_variant STAD-US 5 38958851 38958851 single base substitution A G downstream_gene_variant STAD-US 5 38958851 38958851 single base substitution A G exon_variant STAD-US 5 38958851 38958851 single base substitution A G missense_variant L754S 2261T>C STAD-US 5 38960545 38960545 single base substitution C T 3_prime_UTR_variant STAD-US 5 38960545 38960545 single base substitution C T downstream_gene_variant STAD-US 5 38960545 38960545 single base substitution C T synonymous_variant T602T 1806G>A STAD-US 5 38960545 38960545 single base substitution C T upstream_gene_variant STAD-US 5 38963142 38963142 single base substitution G A downstream_gene_variant STAD-US 5 38963142 38963142 single base substitution G A splice_region_variant STAD-US 5 38963142 38963142 single base substitution G A stop_gained R468* 1402C>T STAD-US 5 38963142 38963142 single base substitution G A upstream_gene_variant STAD-US 5 38968099 38968099 single base substitution G A 3_prime_UTR_variant STAD-US 5 38968099 38968099 single base substitution G A downstream_gene_variant STAD-US 5 38968099 38968099 single base substitution G A exon_variant STAD-US 5 38968099 38968099 single base substitution G A missense_variant R336C 1006C>T STAD-US 5 38975672 38975672 deletion of <=200bp T - 3_prime_UTR_variant STAD-US 5 38975672 38975672 deletion of <=200bp T - exon_variant STAD-US 5 38975672 38975672 deletion of <=200bp T - frameshift_variant M286 STAD-US 5 38975672 38975672 deletion of <=200bp T - upstream_gene_variant STAD-US 5 38975690 38975690 single base substitution G A 3_prime_UTR_variant STAD-US 5 38975690 38975690 single base substitution G A exon_variant STAD-US 5 38975690 38975690 single base substitution G A stop_gained R280* 838C>T STAD-US 5 38975690 38975690 single base substitution G A upstream_gene_variant STAD-US 5 39002671 39002671 single base substitution C A exon_variant STAD-US 5 39002671 39002671 single base substitution C A missense_variant V104L 310G>T STAD-US 5 39002671 39002671 single base substitution C A missense_variant V120L 358G>T STAD-US 5 39002671 39002671 single base substitution C T exon_variant STAD-US 5 39002671 39002671 single base substitution C T missense_variant V104M 310G>A STAD-US 5 39002671 39002671 single base substitution C T missense_variant V120M 358G>A STAD-US 5 39002699 39002699 single base substitution G A exon_variant STAD-US 5 39002699 39002699 single base substitution G A synonymous_variant L110L 330C>T STAD-US 5 39002699 39002699 single base substitution G A synonymous_variant L94L 282C>T STAD-US 5 39002706 39002706 single base substitution C T exon_variant STAD-US 5 39002706 39002706 single base substitution C T missense_variant R108Q 323G>A STAD-US 5 39002706 39002706 single base substitution C T missense_variant R92Q 275G>A STAD-US 5 39002727 39002727 single base substitution G A exon_variant STAD-US 5 39002727 39002727 single base substitution G A missense_variant A101V 302C>T STAD-US 5 39002727 39002727 single base substitution G A missense_variant A85V 254C>T THCA-SA 5 38933645 38933645 single base substitution G A downstream_gene_variant THCA-SA 5 38940246 38940246 single base substitution A C 3_prime_UTR_variant THCA-SA 5 38940246 38940246 single base substitution A C downstream_gene_variant UCEC-US 5 38933131 38933131 single base substitution C A downstream_gene_variant UCEC-US 5 38933143 38933143 single base substitution A C downstream_gene_variant UCEC-US 5 38933241 38933241 single base substitution A G downstream_gene_variant UCEC-US 5 38933298 38933298 single base substitution G T downstream_gene_variant UCEC-US 5 38933426 38933426 single base substitution A G downstream_gene_variant UCEC-US 5 38933467 38933467 single base substitution G A downstream_gene_variant UCEC-US 5 38942431 38942431 single base substitution A G 3_prime_UTR_variant UCEC-US 5 38942431 38942431 single base substitution A G exon_variant UCEC-US 5 38942431 38942431 single base substitution A G missense_variant I1701T 5102T>C UCEC-US 5 38942431 38942431 single base substitution A G missense_variant I1725T 5174T>C UCEC-US 5 38944612 38944612 single base substitution G T 3_prime_UTR_variant UCEC-US 5 38944612 38944612 single base substitution G T missense_variant L1617I 4849C>A UCEC-US 5 38944612 38944612 single base substitution G T missense_variant L1641I 4921C>A UCEC-US 5 38944612 38944612 single base substitution G T upstream_gene_variant UCEC-US 5 38945076 38945076 single base substitution G A 3_prime_UTR_variant UCEC-US 5 38945076 38945076 single base substitution G A synonymous_variant C1576C 4728C>T UCEC-US 5 38945076 38945076 single base substitution G A synonymous_variant C1600C 4800C>T UCEC-US 5 38945076 38945076 single base substitution G A upstream_gene_variant UCEC-US 5 38945110 38945110 single base substitution A G 3_prime_UTR_variant UCEC-US 5 38945110 38945110 single base substitution A G missense_variant V1565A 4694T>C UCEC-US 5 38945110 38945110 single base substitution A G missense_variant V1589A 4766T>C UCEC-US 5 38945110 38945110 single base substitution A G upstream_gene_variant UCEC-US 5 38945790 38945790 single base substitution G T intron_variant UCEC-US 5 38945790 38945790 single base substitution G T missense_variant S1479Y 4436C>A UCEC-US 5 38945790 38945790 single base substitution G T missense_variant S1503Y 4508C>A UCEC-US 5 38945790 38945790 single base substitution G T upstream_gene_variant UCEC-US 5 38947369 38947369 single base substitution G T 3_prime_UTR_variant UCEC-US 5 38947369 38947369 single base substitution G T missense_variant F1437L 4311C>A UCEC-US 5 38947369 38947369 single base substitution G T missense_variant F1461L 4383C>A UCEC-US 5 38947369 38947369 single base substitution G T upstream_gene_variant UCEC-US 5 38947466 38947466 single base substitution C T 3_prime_UTR_variant UCEC-US 5 38947466 38947466 single base substitution C T missense_variant R1405Q 4214G>A UCEC-US 5 38947466 38947466 single base substitution C T missense_variant R1429Q 4286G>A UCEC-US 5 38947466 38947466 single base substitution C T upstream_gene_variant UCEC-US 5 38949526 38949526 single base substitution G A intron_variant UCEC-US 5 38949526 38949526 single base substitution G A synonymous_variant I1380I 4140C>T UCEC-US 5 38950098 38950098 single base substitution C T 3_prime_UTR_variant UCEC-US 5 38950098 38950098 single base substitution C T downstream_gene_variant UCEC-US 5 38950098 38950098 single base substitution C T synonymous_variant S1284S 3852G>A UCEC-US 5 38950183 38950183 single base substitution C A 3_prime_UTR_variant UCEC-US 5 38950183 38950183 single base substitution C A downstream_gene_variant UCEC-US 5 38950183 38950183 single base substitution C A missense_variant S1256I 3767G>T UCEC-US 5 38950385 38950385 single base substitution A C 3_prime_UTR_variant UCEC-US 5 38950385 38950385 single base substitution A C downstream_gene_variant UCEC-US 5 38950385 38950385 single base substitution A C missense_variant F1189V 3565T>G UCEC-US 5 38950642 38950642 single base substitution G A 3_prime_UTR_variant UCEC-US 5 38950642 38950642 single base substitution G A downstream_gene_variant UCEC-US 5 38950642 38950642 single base substitution G A missense_variant T1103I 3308C>T UCEC-US 5 38950648 38950648 single base substitution G A 3_prime_UTR_variant UCEC-US 5 38950648 38950648 single base substitution G A downstream_gene_variant UCEC-US 5 38950648 38950648 single base substitution G A missense_variant S1101L 3302C>T UCEC-US 5 38952300 38952300 single base substitution G A downstream_gene_variant UCEC-US 5 38952300 38952300 single base substitution G A missense_variant S1042L 3125C>T UCEC-US 5 38952300 38952300 single base substitution G A splice_region_variant UCEC-US 5 38958874 38958874 single base substitution G T 3_prime_UTR_variant UCEC-US 5 38958874 38958874 single base substitution G T downstream_gene_variant UCEC-US 5 38958874 38958874 single base substitution G T exon_variant UCEC-US 5 38958874 38958874 single base substitution G T missense_variant F746L 2238C>A UCEC-US 5 38959935 38959935 single base substitution A C 3_prime_UTR_variant UCEC-US 5 38959935 38959935 single base substitution A C downstream_gene_variant UCEC-US 5 38959935 38959935 single base substitution A C missense_variant L666R 1997T>G UCEC-US 5 38959935 38959935 single base substitution A C upstream_gene_variant UCEC-US 5 38963085 38963085 single base substitution G T 3_prime_UTR_variant UCEC-US 5 38963085 38963085 single base substitution G T downstream_gene_variant UCEC-US 5 38963085 38963085 single base substitution G T exon_variant UCEC-US 5 38963085 38963085 single base substitution G T missense_variant P487T 1459C>A UCEC-US 5 38963085 38963085 single base substitution G T upstream_gene_variant UCEC-US 5 38975689 38975689 single base substitution C T 3_prime_UTR_variant UCEC-US 5 38975689 38975689 single base substitution C T exon_variant UCEC-US 5 38975689 38975689 single base substitution C T missense_variant R280Q 839G>A UCEC-US 5 38975689 38975689 single base substitution C T upstream_gene_variant UCEC-US 5 38982001 38982001 single base substitution G A exon_variant UCEC-US 5 38982001 38982001 single base substitution G A stop_gained R241* 721C>T UCEC-US 5 38982001 38982001 single base substitution G A synonymous_variant ?225 UCEC-US 5 38991160 38991160 single base substitution A G exon_variant UCEC-US 5 38991160 38991160 single base substitution A G synonymous_variant A142A 426T>C UCEC-US 5 38991160 38991160 single base substitution A G synonymous_variant A158A 474T>C UCEC-US 5 38991171 38991171 single base substitution T C exon_variant UCEC-US 5 38991171 38991171 single base substitution T C missense_variant T139A 415A>G UCEC-US 5 38991171 38991171 single base substitution T C missense_variant T155A 463A>G UCEC-US 5 38996929 38996929 single base substitution C G exon_variant UCEC-US 5 38996929 38996929 single base substitution C G missense_variant V134L 400G>C UCEC-US 5 38996929 38996929 single base substitution C G missense_variant V150L 448G>C UCEC-US 5 39002712 39002712 single base substitution G A exon_variant UCEC-US 5 39002712 39002712 single base substitution G A missense_variant A106V 317C>T UCEC-US 5 39002712 39002712 single base substitution G A missense_variant A90V 269C>T UCEC-US 5 39021230 39021230 single base substitution C T exon_variant UCEC-US 5 39021230 39021230 single base substitution C T missense_variant D20N 58G>A UCEC-US 5 39021230 39021230 single base substitution C T missense_variant D36N 106G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SH-8559 COSM5019867 c.2433T>A p.I811I Substitution - coding silent 5:38957718-38957718 - TCGA-66-2767-01 COSM737809 c.1818C>T p.C606C Substitution - coding silent 5:38960431-38960431 - TCGA-BH-A1EV-01 COSM449638 c.4810G>A p.D1604N Substitution - Missense 5:38944549-38944549 - TCGA-EE-A184-06 COSM3616272 c.1419G>C p.L473F Substitution - Missense 5:38963023-38963023 - EGC15 COSM5061086 c.3249T>A p.N1083K Substitution - Missense 5:38950599-38950599 - PT38 COSM5922479 c.4883C>A p.S1628* Substitution - Nonsense 5:38944476-38944476 - HNPTS_18 COSM1579115 c.4897G>T p.E1633* Substitution - Nonsense 5:38944462-38944462 - ccRCC-100 COSM1660191 c.1061-5delT p.? Unknown 5:38967432-38967432 - TCGA-CA-6717-01 COSM1437485 c.1927G>A p.E643K Substitution - Missense 5:38959903-38959903 - TCGA-EE-A29V-06 COSM3616262 c.3184C>T p.L1062F Substitution - Missense 5:38950664-38950664 - 100695 COSM95187 c.1711C>A p.H571N Substitution - Missense 5:38962319-38962319 - sysucc-274T COSM5476588 c.3808T>C p.L1270L Substitution - coding silent 5:38950040-38950040 - C086 COSM5538240 c.2568G>A p.K856K Substitution - coding silent 5:38955636-38955636 - TCGA-F5-6814-01 COSM3429448 c.4152A>G p.L1384L Substitution - coding silent 5:38947426-38947426 - TCGA-GV-A3JZ-01 COSM80449 c.4185G>A p.L1395L Substitution - coding silent 5:38947393-38947393 - TCGA-F9-A4JJ-01 COSM3994316 c.4217C>T p.S1406F Substitution - Missense 5:38947361-38947361 - LUAD-S01357 COSM387551 c.1219-1G>A p.? Unknown 5:38966722-38966722 - PT26 COSM5905232 c.4742C>T p.S1581F Substitution - Missense 5:38944960-38944960 - LUAD-YINHD COSM351222 c.4465C>G p.L1489V Substitution - Missense 5:38945659-38945659 - PD24308a COSM5784791 c.2742G>A p.L914L Substitution - coding silent 5:38953509-38953509 - PT23_2 COSM5903563 c.2888C>T p.S963F Substitution - Missense 5:38952994-38952994 - 587332 COSM1223731 c.133G>A p.V45M Substitution - Missense 5:39021101-39021101 - PD13771a COSM5801581 c.4113delT p.F1371fs*5 Deletion - Frameshift 5:38949735-38949735 - TCGA-25-2408-01 COSM80450 c.2907A>G p.V969V Substitution - coding silent 5:38952416-38952416 - SH-3327 COSM5019867 c.2433T>A p.I811I Substitution - coding silent 5:38957718-38957718 - 40M COSM5586417 c.914G>A p.G305E Substitution - Missense 5:38971935-38971935 - TCGA-AP-A051-01 COSM1067974 c.4311C>A p.F1437L Substitution - Missense 5:38947267-38947267 - CP66-MEL COSM24249 c.2025G>A p.M675I Substitution - Missense 5:38959805-38959805 - STC246 COSM3920054 c.1201C>T p.R401C Substitution - Missense 5:38967178-38967178 - 587376 COSM1223733 c.665G>A p.R222Q Substitution - Missense 5:38981955-38981955 - T3058 COSM4721671 c.664C>T p.R222* Substitution - Nonsense 5:38981956-38981956 - TCGA-AU-6004-01 COSM5830121 c.4315-3delT p.? Unknown 5:38946555-38946555 - HCC2998 COSM1067989 c.2238C>A p.F746L Substitution - Missense 5:38958772-38958772 - IGROV-1 COSM1671611 c.2750G>A p.W917* Substitution - Nonsense 5:38953501-38953501 - YUCHIME COSM225207 c.3302C>T p.S1101L Substitution - Missense 5:38950546-38950546 - TCGA-BP-4167-01 COSM1137344 c.2622T>C p.P874P Substitution - coding silent 5:38954849-38954849 - TP_2020 COSM5560715 c.36C>A p.N12K Substitution - Missense 5:39074342-39074342 - UPCI:SCC090 COSM4592399 c.3797C>A p.T1266K Substitution - Missense 5:38950051-38950051 - TCGA-FW-A3R5-06 COSM3920054 c.1201C>T p.R401C Substitution - Missense 5:38967178-38967178 - LUAD-YINHD COSM351223 c.4402C>G p.L1468V Substitution - Missense 5:38945722-38945722 - TCGA-EK-A3GK-01 COSM4854514 c.844C>G p.L282V Substitution - Missense 5:38975582-38975582 - HCC93T COSM3661824 c.1283G>T p.G428V Substitution - Missense 5:38966657-38966657 - TCGA-06-0877-01 COSM2152142 c.913G>A p.G305R Substitution - Missense 5:38971936-38971936 - HF-19967 COSM1192954 c.1682_1683insA p.N561fs*6 Insertion - Frameshift 5:38962347-38962348 - S03-26121-TP COSM4992351 c.1948G>A p.G650S Substitution - Missense 5:38959882-38959882 - TCGA-IR-A3LA-01 COSM4844891 c.1446G>A p.M482I Substitution - Missense 5:38962996-38962996 - SC_9032 COSM5556767 c.2625C>T p.H875H Substitution - coding silent 5:38954846-38954846 - ESCC_141 COSM5643592 c.33G>A p.K11K Substitution - coding silent 5:39074345-39074345 - TCGA-CG-5726-01 COSM2689214 c.5003C>T p.P1668L Substitution - Missense 5:38942882-38942882 - T2269 COSM4721665 c.946C>A p.L316I Substitution - Missense 5:38971903-38971903 - RK200_C01 COSM3744864 c.2146A>T p.I716F Substitution - Missense 5:38959227-38959227 - 8058187 COSM3393559 c.4482T>A p.N1494K Substitution - Missense 5:38945642-38945642 - 73 COSM5011404 c.2136G>T p.L712F Substitution - Missense 5:38959237-38959237 - TCGA-D7-6528-01 COSM3855214 c.330C>T p.L110L Substitution - coding silent 5:39002597-39002597 - DLD1 COSM4625554 c.1901T>C p.L634P Substitution - Missense 5:38959929-38959929 - TCGA-B5-A0JY-01 COSM1067997 c.721C>T p.R241* Substitution - Nonsense 5:38981899-38981899 - TCGA-EE-A2MR-06 COSM3616256 c.5114C>T p.S1705F Substitution - Missense 5:38942317-38942317 - GC_299T1-GC_299N COSM4772499 c.2099T>G p.L700R Substitution - Missense 5:38959274-38959274 - pfg217T COSM4753224 c.1218+2T>A p.? Unknown 5:38967159-38967159 - TCGA-BR-8680-01 COSM3855188 c.4472A>C p.E1491A Substitution - Missense 5:38945652-38945652 - SH-8559 COSM187422 c.4589G>A p.G1530D Substitution - Missense 5:38945535-38945535 - TCGA-30-1853-01 COSM80449 c.4185G>A p.L1395L Substitution - coding silent 5:38947393-38947393 - 35M COSM5582350 c.872C>A p.T291K Substitution - Missense 5:38975554-38975554 - PD9464a COSM5792503 c.2773G>A p.A925T Substitution - Missense 5:38953478-38953478 - 3101B7_041_T COSM5040862 c.3706C>G p.P1236A Substitution - Missense 5:38950142-38950142 - TCGA-BR-7717-01 COSM3855196 c.3329G>A p.R1110H Substitution - Missense 5:38950519-38950519 - TCGA-F5-6814-01 COSM3429454 c.1538G>A p.R513Q Substitution - Missense 5:38962904-38962904 - CSB1 COSM5026286 c.545G>C p.R182T Substitution - Missense 5:38990987-38990987 - S02248 COSM5679761 c.16delC p.R6fs*5 Deletion - Frameshift 5:39074362-39074362 - 2090423 COSM1738173 c.2347A>T p.N783Y Substitution - Missense 5:38958516-38958516 - TCGA-FS-A4FC-06 COSM3616268 c.2388C>T p.H796H Substitution - coding silent 5:38958475-38958475 - TCGA-B5-A0JY-01 COSM225207 c.3302C>T p.S1101L Substitution - Missense 5:38950546-38950546 - TCGA-61-2610-02 COSM1328794 c.1114G>A p.E372K Substitution - Missense 5:38967374-38967374 - TCGA-CG-5723-01 COSM3855192 c.4247C>T p.A1416V Substitution - Missense 5:38947331-38947331 - 86576 COSM95657 c.2869A>T p.K957* Substitution - Nonsense 5:38953013-38953013 - TCGA-BS-A0UV-01 COSM1067987 c.3125C>T p.S1042L Substitution - Missense 5:38952198-38952198 - DM26 COSM5610503 c.2071T>C p.L691L Substitution - coding silent 5:38959302-38959302 - TCGA-EE-A3JB-06 COSM225207 c.3302C>T p.S1101L Substitution - Missense 5:38950546-38950546 - TCGA-BS-A0UV-01 COSM1067966 c.4849C>A p.L1617I Substitution - Missense 5:38944510-38944510 - CCK81 COSM2689228 c.4610T>G p.L1537R Substitution - Missense 5:38945514-38945514 - Br27P COSM40851 c.1416C>T p.A472A Substitution - coding silent 5:38963026-38963026 - Gp2D COSM4628432 c.5083A>G p.T1695A Substitution - Missense 5:38942348-38942348 - PD7199a COSM5781833 c.362T>C p.L121P Substitution - Missense 5:39002565-39002565 - TCGA-CA-6717-01 COSM1437479 c.3851C>T p.S1284L Substitution - Missense 5:38949997-38949997 - UD-SCC-2 COSM4592399 c.3797C>A p.T1266K Substitution - Missense 5:38950051-38950051 - TCGA-AA-3552-01 COSM292225 c.553C>T p.R185* Substitution - Nonsense 5:38990979-38990979 - TCGA-D8-A13Z-01 COSM449642 c.106G>A p.D36N Substitution - Missense 5:39021128-39021128 - sysucc-834T COSM5486481 c.4458G>T p.Q1486H Substitution - Missense 5:38945666-38945666 - TCGA-D8-A1JA-01 COSM3828056 c.2425C>T p.L809F Substitution - Missense 5:38957726-38957726 - S01873 COSM5672306 c.3759A>G p.G1253G Substitution - coding silent 5:38950089-38950089 - TCGA-E2-A152-01 COSM449637 c.4860C>G p.V1620V Substitution - coding silent 5:38944499-38944499 - 13280 COSM5617294 c.2496C>T p.H832H Substitution - coding silent 5:38957655-38957655 - TCGA-LP-A4AU-01 COSM4855217 c.2613A>G p.L871L Substitution - coding silent 5:38954858-38954858 - TCGA-FW-A3R5-06 COSM3920052 c.1485C>T p.D495D Substitution - coding silent 5:38962957-38962957 - M006 COSM1739073 c.3848A>G p.N1283S Substitution - Missense 5:38950000-38950000 - 054-0114-05TD COSM145863 c.4991C>T p.T1664I Substitution - Missense 5:38942894-38942894 - YUDAB COSM1695696 c.3251C>T p.S1084L Substitution - Missense 5:38950597-38950597 - CHC1594T COSM4804978 c.3224G>T p.R1075L Substitution - Missense 5:38950624-38950624 - TCGA-FU-A3HZ-01 COSM4839917 c.1534C>A p.L512I Substitution - Missense 5:38962908-38962908 - HCC097T COSM5816532 c.4877C>T p.S1626L Substitution - Missense 5:38944482-38944482 - TCGA-BR-8360-01 COSM3855200 c.2261T>C p.L754S Substitution - Missense 5:38958749-38958749 - TCGA-A8-A0A6-01 COSM3828052 c.4204A>C p.T1402P Substitution - Missense 5:38947374-38947374 - TCGA-EK-A2RD-01 COSM4820331 c.2454G>A p.L818L Substitution - coding silent 5:38957697-38957697 - 112140 COSM95186 c.4893T>G p.C1631W Substitution - Missense 5:38944466-38944466 - RK027_C01 COSM1634228 c.4647T>C p.I1549I Substitution - coding silent 5:38945055-38945055 - Pat_59_A COSM4721649 c.4228C>T p.R1410W Substitution - Missense 5:38947350-38947350 - HCC65T COSM80450 c.2907A>G p.V969V Substitution - coding silent 5:38952416-38952416 - TCGA-CC-A3MB-01 COSM4933754 c.2383T>A p.S795T Substitution - Missense 5:38958480-38958480 - TCGA-AX-A05Y-01 COSM1068003 c.448G>C p.V150L Substitution - Missense 5:38996827-38996827 - TCGA-CG-4465-01 COSM3855186 c.4627C>T p.H1543Y Substitution - Missense 5:38945497-38945497 - PD18037a COSM5773815 c.2995C>T p.H999Y Substitution - Missense 5:38952328-38952328 - TCGA-FW-A3R5-06 COSM3920048 c.3135C>T p.F1045F Substitution - coding silent 5:38950713-38950713 - HNPTS_27 COSM1579116 c.523G>C p.D175H Substitution - Missense 5:38991009-38991009 - TCGA-F5-6814-01 COSM1264163 c.2593C>T p.R865C Substitution - Missense 5:38955611-38955611 - ESO-601 COSM1264162 c.2052-9_2052-8insT p.? Unknown 5:38959329-38959330 - RK185_C01 COSM3744860 c.3868C>G p.P1290A Substitution - Missense 5:38949980-38949980 - B60 COSM1754274 c.292G>C p.E98Q Substitution - Missense 5:39002635-39002635 - TCGA-FR-A44A-06 COSM3616260 c.3192C>T p.I1064I Substitution - coding silent 5:38950656-38950656 - HCC138T COSM5819154 c.2948A>G p.D983G Substitution - Missense 5:38952375-38952375 - TCGA-AP-A0LM-01 COSM225207 c.3302C>T p.S1101L Substitution - Missense 5:38950546-38950546 - 403 COSM4429948 c.3989A>G p.Y1330C Substitution - Missense 5:38949859-38949859 - ESCC_BICR_007T COSM5434178 c.564T>C p.I188I Substitution - coding silent 5:38990968-38990968 - HCC2998 COSM2689266 c.3551A>C p.K1184T Substitution - Missense 5:38950297-38950297 - WA53 COSM236851 c.4303G>A p.D1435N Substitution - Missense 5:38947275-38947275 - 2521249 COSM5887910 c.98-7C>A p.? Unknown 5:39021143-39021143 - S08-7608-TP COSM4992347 c.3632C>T p.S1211L Substitution - Missense 5:38950216-38950216 - TCGA-BT-A2LB-01 COSM3776702 c.1511C>G p.T504R Substitution - Missense 5:38962931-38962931 - TCGA-HU-A4GQ-01 COSM3855208 c.838C>T p.R280* Substitution - Nonsense 5:38975588-38975588 - CAL27 COSM4592399 c.3797C>A p.T1266K Substitution - Missense 5:38950051-38950051 - PD14435a COSM5790441 c.4605C>T p.N1535N Substitution - coding silent 5:38945519-38945519 - KYSE70 COSM2689355 c.753+1G>A p.? Unknown 5:38981866-38981866 - WSU-HN8 COSM4592399 c.3797C>A p.T1266K Substitution - Missense 5:38950051-38950051 - I2L-P10-Tumor-Organoid COSM5356396 c.1715G>A p.R572K Substitution - Missense 5:38962315-38962315 - PDA_039 COSM4592399 c.3797C>A p.T1266K Substitution - Missense 5:38950051-38950051 - RKO COSM4648887 c.2903G>C p.C968S Substitution - Missense 5:38952420-38952420 - CH-109-T2 COSM5650586 c.1787C>T p.A596V Substitution - Missense 5:38960462-38960462 - CHC805T COSM4954233 c.549G>A p.M183I Substitution - Missense 5:38990983-38990983 - PD8619a COSM1067964 c.5102T>C p.I1701T Substitution - Missense 5:38942329-38942329 - ME016T COSM224907 c.4700C>T p.P1567L Substitution - Missense 5:38945002-38945002 - BD124T COSM5491892 c.1932A>G p.R644R Substitution - coding silent 5:38959898-38959898 - ESCC_151 COSM4592399 c.3797C>A p.T1266K Substitution - Missense 5:38950051-38950051 - YUDUTY COSM1695693 c.4990A>G p.T1664A Substitution - Missense 5:38942895-38942895 - TCGA-DK-A3IT-01 COSM1311140 c.3112G>T p.E1038* Substitution - Nonsense 5:38952211-38952211 - TCGA-MU-A5YI-01 COSM4855436 c.2427C>T p.L809L Substitution - coding silent 5:38957724-38957724 - TCGA-A5-A0VP-01 COSM1068005 c.317C>T p.A106V Substitution - Missense 5:39002610-39002610 - TCGA-EB-A553-01 COSM3616264 c.2700T>C p.N900N Substitution - coding silent 5:38953551-38953551 - TCGA-B5-A0JY-01 COSM1067995 c.839G>A p.R280Q Substitution - Missense 5:38975587-38975587 - T2269 COSM4721675 c.392+1G>A p.? Unknown 5:39002534-39002534 - DM98 COSM5586417 c.914G>A p.G305E Substitution - Missense 5:38971935-38971935 - SNUH_G40_S1 COSM3683847 c.718A>C p.T240P Substitution - Missense 5:38981902-38981902 - TCGA-DA-A1HV-06 COSM3616276 c.877C>T p.R293* Substitution - Nonsense 5:38975549-38975549 - TCGA-09-2049-01 COSM72433 c.4118C>T p.S1373F Substitution - Missense 5:38949730-38949730 - TCGA-HI-7169-01 COSM1471818 c.4755A>C p.S1585S Substitution - coding silent 5:38944947-38944947 - CHEWS014 COSM4585883 c.3282G>C p.V1094V Substitution - coding silent 5:38950566-38950566 - TCGA-DI-A0WH-01 COSM1067978 c.3852G>A p.S1284S Substitution - coding silent 5:38949996-38949996 - TCGA-34-5236-01 COSM737807 c.1437C>T p.F479F Substitution - coding silent 5:38963005-38963005 - T578 COSM4721651 c.4019G>T p.R1340I Substitution - Missense 5:38949829-38949829 - T3503 COSM4721659 c.1807G>A p.V603I Substitution - Missense 5:38960442-38960442 - 53M COSM5595234 c.1560C>T p.I520I Substitution - coding silent 5:38962882-38962882 - 587228 COSM1223730 c.4826G>A p.R1609H Substitution - Missense 5:38944533-38944533 - T3724 COSM4721649 c.4228C>T p.R1410W Substitution - Missense 5:38947350-38947350 - LUAD-D02185 COSM236851 c.4303G>A p.D1435N Substitution - Missense 5:38947275-38947275 - PD6646a COSM3719937 c.2453T>C p.L818P Substitution - Missense 5:38957698-38957698 - LUAD-D01603 COSM337955 c.2108C>T p.S703F Substitution - Missense 5:38959265-38959265 - TCGA-B9-4113-01 COSM3994318 c.2750G>C p.W917S Substitution - Missense 5:38953501-38953501 - LAU165 COSM233265 c.4847T>C p.V1616A Substitution - Missense 5:38944512-38944512 - KYSE510 COSM2689332 c.1582C>T p.L528F Substitution - Missense 5:38962571-38962571 - T3011 COSM4721661 c.1474C>G p.L492V Substitution - Missense 5:38962968-38962968 - LUAD-D02185 COSM338786 c.4464T>C p.S1488S Substitution - coding silent 5:38945660-38945660 - TCGA-B5-A11E-01 COSM1067964 c.5102T>C p.I1701T Substitution - Missense 5:38942329-38942329 - DM4 COSM1437479 c.3851C>T p.S1284L Substitution - Missense 5:38949997-38949997 - WM3211 COSM3727742 c.4744C>T p.Q1582* Substitution - Nonsense 5:38944958-38944958 - TCGA-AP-A059-01 COSM449642 c.106G>A p.D36N Substitution - Missense 5:39021128-39021128 - RK133_C01 COSM1634230 c.1262_1265delTTAG p.V421fs*6 Deletion - Frameshift 5:38966675-38966678 - TCGA-BR-8382-01 COSM3855202 c.1806G>A p.T602T Substitution - coding silent 5:38960443-38960443 - ESOSCC158T COSM337955 c.2108C>T p.S703F Substitution - Missense 5:38959265-38959265 - TCGA-HU-A4G8-01 COSM3855190 c.4261T>C p.S1421P Substitution - Missense 5:38947317-38947317 - ESCC-014T COSM3941317 c.3827A>G p.H1276R Substitution - Missense 5:38950021-38950021 - HCC157T COSM2689280 c.3092C>G p.S1031C Substitution - Missense 5:38952231-38952231 - 587376 COSM1067995 c.839G>A p.R280Q Substitution - Missense 5:38975587-38975587 - J90_T COSM3947509 c.4315-10C>A p.? Unknown 5:38946562-38946562 - T578 COSM4721655 c.3388C>T p.R1130* Substitution - Nonsense 5:38950460-38950460 - TCGA-DR-A0ZM-01 COSM461984 c.2452C>G p.L818V Substitution - Missense 5:38957699-38957699 - 12-P616 COSM4585885 c.1883A>G p.K628R Substitution - Missense 5:38959947-38959947 - 3N50-VS-3T50 COSM4983133 c.5059G>A p.E1687K Substitution - Missense 5:38942372-38942372 - TCGA-BH-A0H0-01 COSM449640 c.2385C>T p.S795S Substitution - coding silent 5:38958478-38958478 - PA285 COSM1163399 c.2024T>C p.M675T Substitution - Missense 5:38959806-38959806 - P06-1125 COSM247041 c.3205G>C p.E1069Q Substitution - Missense 5:38950643-38950643 - TCGA-CM-6171-01 COSM1437485 c.1927G>A p.E643K Substitution - Missense 5:38959903-38959903 - S10-47754-TP COSM4992353 c.662G>A p.S221N Substitution - Missense 5:38981958-38981958 - Pat_26_A COSM5868511 c.2178+2T>A p.? Unknown 5:38959193-38959193 - Pat_06_A COSM2689214 c.5003C>T p.P1668L Substitution - Missense 5:38942882-38942882 - SA065 COSM213171 c.361C>G p.L121V Substitution - Missense 5:39002566-39002566 - TCGA-AA-A010-01 COSM284595 c.1177G>A p.A393T Substitution - Missense 5:38967202-38967202 - TCGA-EE-A20F-06 COSM225207 c.3302C>T p.S1101L Substitution - Missense 5:38950546-38950546 - SNUH_G10_S1 COSM4003526 c.2510C>T p.S837F Substitution - Missense 5:38955694-38955694 - S07-39193-TP COSM4992355 c.511delG p.A171fs*24 Deletion - Frameshift 5:38991021-38991021 - HCC058T COSM5805058 c.736G>T p.A246S Substitution - Missense 5:38981884-38981884 - PET124T COSM5825376 c.1390G>A p.E464K Substitution - Missense 5:38964802-38964802 - YUGASP COSM1695696 c.3251C>T p.S1084L Substitution - Missense 5:38950597-38950597 - 8014777 COSM3393561 c.4399+3A>G p.? Unknown 5:38946465-38946465 - BICR_22 COSM4592399 c.3797C>A p.T1266K Substitution - Missense 5:38950051-38950051 - TCGA-BR-6452-01 COSM3855198 c.2969G>C p.W990S Substitution - Missense 5:38952354-38952354 - 8057484 COSM3393563 c.754-6A>T p.? Unknown 5:38978656-38978656 - PD6410a COSM5785443 c.3610G>A p.V1204I Substitution - Missense 5:38950238-38950238 - AD87 COSM5966923 c.1390G>C p.E464Q Substitution - Missense 5:38964802-38964802 - TCGA-D1-A103-01 COSM1067989 c.2238C>A p.F746L Substitution - Missense 5:38958772-38958772 - BD72T COSM1663921 c.2626G>A p.V876I Substitution - Missense 5:38954845-38954845 - BD58T COSM5511306 c.3259T>G p.F1087V Substitution - Missense 5:38950589-38950589 - HCC2998 COSM2689357 c.643G>T p.V215L Substitution - Missense 5:38981977-38981977 - C008 COSM5523689 c.1373C>T p.S458F Substitution - Missense 5:38964819-38964819 - ESCC_3 COSM5649613 c.1939C>G p.Q647E Substitution - Missense 5:38959891-38959891 - Au5 COSM5606026 c.3403A>G p.T1135A Substitution - Missense 5:38950445-38950445 - TCGA-CZ-5989-01 COSM482807 c.3194A>G p.N1065S Substitution - Missense 5:38950654-38950654 - S03-26121-TP COSM4992349 c.2393G>A p.G798E Substitution - Missense 5:38958470-38958470 - CSCC-55-T COSM4482520 c.2617C>T p.R873C Substitution - Missense 5:38954854-38954854 - ME011T COSM224278 c.50G>A p.G17E Substitution - Missense 5:39074158-39074158 - RK180_C01 COSM1634226 c.4742C>A p.S1581Y Substitution - Missense 5:38944960-38944960 - TCGA-A3-3385-01 COSM482808 c.2579G>A p.G860D Substitution - Missense 5:38955625-38955625 - TCGA-AA-A010-01 COSM284594 c.3261C>A p.F1087L Substitution - Missense 5:38950587-38950587 - B60-Tumor COSM1754274 c.292G>C p.E98Q Substitution - Missense 5:39002635-39002635 - TCGA-A5-A0GP-01 COSM1067982 c.3565T>G p.F1189V Substitution - Missense 5:38950283-38950283 - YUKAT COSM5403463 c.4772G>A p.S1591N Substitution - Missense 5:38944930-38944930 - TCGA-BH-A0HL-01 COSM449639 c.3066A>G p.L1022L Substitution - coding silent 5:38952257-38952257 - TCGA-FS-A1ZK-06 COSM3616266 c.2665C>T p.H889Y Substitution - Missense 5:38954806-38954806 - S02237 COSM5676598 c.3343C>G p.P1115A Substitution - Missense 5:38950505-38950505 - SCMC_RM2_ COSM4989254 c.1873G>T p.D625Y Substitution - Missense 5:38959957-38959957 - TCGA-D1-A17H-01 COSM1067999 c.474T>C p.A158A Substitution - coding silent 5:38991058-38991058 - 5_RESISTANT COSM1724953 c.2052-9delT p.? Unknown 5:38959330-38959330 - BD130T COSM5515978 c.12C>T p.I4I Substitution - coding silent 5:39074366-39074366 - MZ7-mel COSM24248 c.476C>T p.S159F Substitution - Missense 5:38991056-38991056 - TCGA-06-0877 COSM2152142 c.913G>A p.G305R Substitution - Missense 5:38971936-38971936 - WA18 COSM241416 c.4377A>T p.R1459S Substitution - Missense 5:38946490-38946490 - T3033 COSM4721673 c.614G>A p.R205Q Substitution - Missense 5:38982006-38982006 - TCGA-51-4080-01 COSM737808 c.1705C>T p.Q569* Substitution - Nonsense 5:38962325-38962325 - ESCC_157 COSM5646414 c.41G>A p.R14Q Substitution - Missense 5:39074337-39074337 - PCSI_0142_Pa_P_526 COSM4808332 c.1560C>A p.I520I Substitution - coding silent 5:38962882-38962882 - AOCS-064-3-3 COSM4141807 c.1363A>C p.M455L Substitution - Missense 5:38964829-38964829 - TCGA-QB-A6FS-06 COSM3920050 c.2559T>C p.T853T Substitution - coding silent 5:38955645-38955645 - HCC65 COSM80450 c.2907A>G p.V969V Substitution - coding silent 5:38952416-38952416 - 113368 COSM326370 c.4421G>T p.G1474V Substitution - Missense 5:38945703-38945703 - S00501 COSM314799 c.3795G>A p.K1265K Substitution - coding silent 5:38950053-38950053 - ccRCC-1 COSM1663921 c.2626G>A p.V876I Substitution - Missense 5:38954845-38954845 - ICGC_MB119 COSM3765193 c.4513G>A p.E1505K Substitution - Missense 5:38945611-38945611 - ESO-0292 COSM1241669 c.726G>A p.Q242Q Substitution - coding silent 5:38981894-38981894 - T3433 COSM4721663 c.1409G>T p.S470I Substitution - Missense 5:38963033-38963033 - TCGA-D9-A6EC-06 COSM4402058 c.4677C>T p.I1559I Substitution - coding silent 5:38945025-38945025 - SC_9008 COSM1724953 c.2052-9delT p.? Unknown 5:38959330-38959330 - YUFIT COSM5403467 c.1894C>T p.Q632* Substitution - Nonsense 5:38959936-38959936 - 951_T COSM3947511 c.1351A>G p.T451A Substitution - Missense 5:38964841-38964841 - TCGA-BR-6452-01 COSM3855212 c.358G>A p.V120M Substitution - Missense 5:39002569-39002569 - S02246 COSM5679133 c.146A>G p.Q49R Substitution - Missense 5:39021088-39021088 - SH-3776 COSM2689232 c.4494A>C p.S1498S Substitution - coding silent 5:38945630-38945630 - MZ7-mel COSM24248 c.476C>T p.S159F Substitution - Missense 5:38991056-38991056 - TCGA-22-5477-01 COSM737811 c.3895A>G p.R1299G Substitution - Missense 5:38949953-38949953 - TCGA-61-1915-01 COSM1328793 c.390T>C p.A130A Substitution - coding silent 5:39002537-39002537 - SS6003323 COSM3413889 c.3974G>C p.R1325T Substitution - Missense 5:38949874-38949874 - TCGA-GM-A2D9-01 COSM3828054 c.3999G>A p.L1333L Substitution - coding silent 5:38949849-38949849 - TCGA-B5-A0JY-01 COSM1067980 c.3767G>T p.S1256I Substitution - Missense 5:38950081-38950081 - HCC92T COSM1620310 c.5053-7delT p.? Unknown 5:38942385-38942385 - UM-SCC-11B COSM4592399 c.3797C>A p.T1266K Substitution - Missense 5:38950051-38950051 - PAPSPN COSM5005293 c.3420T>A p.D1140E Substitution - Missense 5:38950428-38950428 - TCGA-AA-3655-01 COSM1437480 c.3404C>T p.T1135M Substitution - Missense 5:38950444-38950444 - TCGA-AC-A23H-01 COSM3828050 c.4220C>T p.S1407F Substitution - Missense 5:38947358-38947358 - sysucc-311T COSM5466458 c.1151+2T>C p.? Unknown 5:38967335-38967335 - PD4098a COSM164013 c.2179-1G>C p.? Unknown 5:38958832-38958832 - TCGA-AA-3854-01 COSM271960 c.995A>G p.Y332C Substitution - Missense 5:38968008-38968008 - ICC005T COSM5808788 c.2028G>C p.L676L Substitution - coding silent 5:38959802-38959802 - GBM_IV-39 COSM4967252 c.3653A>C p.Q1218P Substitution - Missense 5:38950195-38950195 - HCC157 COSM2689280 c.3092C>G p.S1031C Substitution - Missense 5:38952231-38952231 - STC263 COSM5061088 c.260+2T>C p.? Unknown 5:39003556-39003556 - PD2209a COSM26588 c.2164A>G p.T722A Substitution - Missense 5:38959209-38959209 - TCGA-AX-A0J0-01 COSM1067972 c.4436C>A p.S1479Y Substitution - Missense 5:38945688-38945688 - TCGA-D1-A15X-01 COSM1068001 c.463A>G p.T155A Substitution - Missense 5:38991069-38991069 - TCGA-CM-5348-01 COSM1437487 c.979C>G p.L327V Substitution - Missense 5:38968024-38968024 - KYSE70 COSM2689230 c.4562T>C p.L1521P Substitution - Missense 5:38945562-38945562 - TCGA-AP-A0LM-01 COSM1067984 c.3308C>T p.T1103I Substitution - Missense 5:38950540-38950540 - TCGA-D1-A17Q-01 COSM1067976 c.4214G>A p.R1405Q Substitution - Missense 5:38947364-38947364 - Pat_41_B COSM5868505 c.5035G>A p.D1679N Substitution - Missense 5:38942850-38942850 - TCGA-AA-A00N-01 COSM277065 c.722G>A p.R241Q Substitution - Missense 5:38981898-38981898 - PD4937a COSM164014 c.2620C>T p.P874S Substitution - Missense 5:38954851-38954851 - DM8 COSM5610507 c.677C>T p.A226V Substitution - Missense 5:38981943-38981943 - ESCC-D2 COSM292225 c.553C>T p.R185* Substitution - Nonsense 5:38990979-38990979 - TCGA-14-1043-01 COSM3410263 c.3564T>G p.N1188K Substitution - Missense 5:38950284-38950284 - TCGA-FS-A4F5-06 COSM3616258 c.3227C>T p.S1076F Substitution - Missense 5:38950621-38950621 - SH-1362 COSM5019310 c.4020A>G p.R1340R Substitution - coding silent 5:38949828-38949828 - EGC8 COSM5061084 c.4941T>C p.F1647F Substitution - coding silent 5:38942944-38942944 - T3431 COSM4721667 c.854A>C p.K285T Substitution - Missense 5:38975572-38975572 - 410 COSM4430880 c.2729G>A p.R910H Substitution - Missense 5:38953522-38953522 - PT16_1 COSM5898283 c.704T>C p.L235P Substitution - Missense 5:38981916-38981916 - RMS2111 COSM5881068 c.478T>G p.L160V Substitution - Missense 5:38991054-38991054 - SA069 COSM214173 c.1081A>C p.S361R Substitution - Missense 5:38967407-38967407 - TCGA-BR-7851-01 COSM3855206 c.1006C>T p.R336C Substitution - Missense 5:38967997-38967997 - T2269 COSM4721653 c.3712C>T p.R1238* Substitution - Nonsense 5:38950136-38950136 - TCGA-CA-6717-01 COSM277065 c.722G>A p.R241Q Substitution - Missense 5:38981898-38981898 - TCGA-EE-A2MD-06 COSM3616274 c.1354C>T p.L452L Substitution - coding silent 5:38964838-38964838 - CP66-MEL COSM24249 c.2025G>A p.M675I Substitution - Missense 5:38959805-38959805 - TCGA-FS-A1Z0-06 COSM3616270 c.1438C>T p.H480Y Substitution - Missense 5:38963004-38963004 - LP6007438-DNA_A01 COSM4408116 c.2036G>C p.C679S Substitution - Missense 5:38959794-38959794 - PCSI_0104_Pa_P_526 COSM4806744 c.2305G>A p.E769K Substitution - Missense 5:38958705-38958705 - TCGA-GF-A6C9-06 COSM3616262 c.3184C>T p.L1062F Substitution - Missense 5:38950664-38950664 - ESCC_130 COSM4592399 c.3797C>A p.T1266K Substitution - Missense 5:38950051-38950051 - Pat_28_B COSM5868507 c.2833G>A p.E945K Substitution - Missense 5:38953049-38953049 - TCGA-B5-A11E-01 COSM1067968 c.4728C>T p.C1576C Substitution - coding silent 5:38944974-38944974 - PD2209a COSM26588 c.2164A>G p.T722A Substitution - Missense 5:38959209-38959209 - TCGA-G2-A2EC-01 COSM1311141 c.2526G>A p.L842L Substitution - coding silent 5:38955678-38955678 - ME018T COSM225207 c.3302C>T p.S1101L Substitution - Missense 5:38950546-38950546 - YUAKER COSM1695696 c.3251C>T p.S1084L Substitution - Missense 5:38950597-38950597 - TCGA-39-5030-01 COSM737812 c.4897G>C p.E1633Q Substitution - Missense 5:38944462-38944462 - TCGA-AP-A051-01 COSM1067993 c.1459C>A p.P487T Substitution - Missense 5:38962983-38962983 - TCGA-F5-6814-01 COSM3429452 c.1724G>A p.R575Q Substitution - Missense 5:38960525-38960525 - SNU-C2B COSM2689278 c.3121C>T p.P1041S Substitution - Missense 5:38952202-38952202 - PT46 COSM5928748 c.1085G>A p.W362* Substitution - Nonsense 5:38967403-38967403 - CHC805T COSM4954233 c.549G>A p.M183I Substitution - Missense 5:38990983-38990983 - RK135_C01 COSM3744862 c.3694A>G p.M1232V Substitution - Missense 5:38950154-38950154 - 054 COSM145863 c.4991C>T p.T1664I Substitution - Missense 5:38942894-38942894 - TCGA-AX-A0J0-01 COSM1067970 c.4694T>C p.V1565A Substitution - Missense 5:38945008-38945008 - T155 COSM1176985 c.4712C>T p.S1571L Substitution - Missense 5:38944990-38944990 - 09-044 COSM305417 c.2447C>T p.S816F Substitution - Missense 5:38957704-38957704 - TCGA-G4-6628-01 COSM1437477 c.4363G>A p.D1455N Substitution - Missense 5:38946504-38946504 - LUAD-NYU284 COSM373190 c.1536C>G p.L512L Substitution - coding silent 5:38962906-38962906 - T3225 COSM4721669 c.734G>A p.R245Q Substitution - Missense 5:38981886-38981886 - HCC93 COSM3661824 c.1283G>T p.G428V Substitution - Missense 5:38966657-38966657 - HCC2998 COSM1067989 c.2238C>A p.F746L Substitution - Missense 5:38958772-38958772 - TCGA-CM-5863-01 COSM1437482 c.2743G>T p.D915Y Substitution - Missense 5:38953508-38953508 - TCGA-CM-5861-01 COSM1437483 c.2660T>C p.V887A Substitution - Missense 5:38954811-38954811 - TCGA-FP-8631-01 COSM3855210 c.358G>T p.V120L Substitution - Missense 5:39002569-39002569 - T578 COSM4721657 c.2295G>T p.T765T Substitution - coding silent 5:38958715-38958715 - ESO-913 COSM1264163 c.2593C>T p.R865C Substitution - Missense 5:38955611-38955611 - DM77 COSM5610505 c.4189C>T p.P1397S Substitution - Missense 5:38947389-38947389 - TCGA-BR-4184-01 COSM3855216 c.323G>A p.R108Q Substitution - Missense 5:39002604-39002604 - TCGA-BR-6452-01 COSM3855218 c.302C>T p.A101V Substitution - Missense 5:39002625-39002625 - TCGA-EV-5902-01 COSM3994320 c.2649T>G p.Y883* Substitution - Nonsense 5:38954822-38954822 - SJDOSTEOS013 COSM5760377 c.1834C>A p.L612I Substitution - Missense 5:38960415-38960415 - TCGA-DK-A1AC-01 COSM1311139 c.4754C>T p.S1585L Substitution - Missense 5:38944948-38944948 - NOKSI COSM4592399 c.3797C>A p.T1266K Substitution - Missense 5:38950051-38950051 - YUKAT COSM5403469 c.1875T>C p.D625D Substitution - coding silent 5:38959955-38959955 - TCGA-BR-A4QL-01 COSM3855204 c.1402C>T p.R468* Substitution - Nonsense 5:38963040-38963040 - TCGA-A3-3357-01 COSM482806 c.3967A>C p.S1323R Substitution - Missense 5:38949881-38949881 - C658 COSM4443517 c.781C>A p.H261N Substitution - Missense 5:38978623-38978623 - Pat_24_A COSM3920054 c.1201C>T p.R401C Substitution - Missense 5:38967178-38967178 - CSCC-55-T COSM4472576 c.1793C>T p.A598V Substitution - Missense 5:38960456-38960456 - TCGA-BS-A0UV-01 COSM1067991 c.1997T>G p.L666R Substitution - Missense 5:38959833-38959833 - RK157_C01 COSM1634232 c.1060+8T>C p.? Unknown 5:38967935-38967935 - TCGA-EP-A2KB-01 COSM4921458 c.3474A>T p.Q1158H Substitution - Missense 5:38950374-38950374 - Pat_59_A COSM5868509 c.2563C>T p.R855W Substitution - Missense 5:38955641-38955641 - YUDON COSM5403465 c.2533G>A p.E845K Substitution - Missense 5:38955671-38955671 - 469 COSM4437617 c.2250G>A p.W750* Substitution - Nonsense 5:38958760-38958760 - LUAD-YINHD COSM351224 c.573C>G p.I191M Substitution - Missense 5:38990959-38990959 - MO_1249 COSM5553968 c.4140C>A p.F1380L Substitution - Missense 5:38947438-38947438 - TCGA-CJ-4884-01 COSM3366063 c.2199A>T p.T733T Substitution - coding silent 5:38958811-38958811 - TCGA-BR-6452-01 COSM3855194 c.4141A>G p.M1381V Substitution - Missense 5:38947437-38947437 - TCGA-F5-6814-01 COSM3429450 c.2710G>T p.E904* Substitution - Nonsense 5:38953541-38953541 - 587376 COSM1223732 c.1007G>A p.R336H Substitution - Missense 5:38967996-38967996 - BHY COSM4592399 c.3797C>A p.T1266K Substitution - Missense 5:38950051-38950051 - CHC1594T COSM4804978 c.3224G>T p.R1075L Substitution - Missense 5:38950624-38950624 - QC2-20-T2 COSM5652799 c.3968G>T p.S1323I Substitution - Missense 5:38949880-38949880 - TCGA-DK-A3WW-01 COSM3776704 c.1222C>G p.L408V Substitution - Missense 5:38966718-38966718 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.407926 5p13.1 609022

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AA TG Missense p.F1461H c.4381_4382delinsCA 5 38946587 CM A C 3-UTRSNV . c.5124+1177T>G 5 38941232 HC A C Missense p.F1189V c.3565T>G 5 38950385 UCEC A C Missense p.N1188K c.3564T>G 5 38950386 GBM A G IntronicSNV . c.754-17T>C 5 38978769 STAD A G Synonymous p.A158A c.474T>C 5 38991160 UCEC A G Synonymous p.I1549I c.4647T>C 5 38945157 HC A T Missense p.I395K c.1184T>A 5 38967297 HNSC C A Missense p.C218F c.653G>T 5 38982069 LUAD C A Missense p.G1420C c.4258G>T 5 38947422 LUAD C A Missense p.G1474V c.4421G>T 5 38945805 SCLC C A Missense p.G58C c.172G>T 5 39021164 LUAD C A Nonsense p.E1038* c.3112G>T 5 38952313 BLCA C A Nonsense p.E1633* c.4897G>T 5 38944564 HNSC C G Missense p.D175H c.523G>C 5 38991111 HNSC C G Missense p.E1160D c.3480G>C 5 38950470 STAD C G Missense p.E1633Q c.4897G>C 5 38944564 LUSC C G Missense p.L473F c.1419G>C 5 38963125 CM C G Missense p.R182T c.545G>C 5 38991089 BRCA C G Missense p.V150L c.448G>C 5 38996929 UCEC C G SpliceAcceptorSNV . c.2179-1G>C 5 38958934 BRCA CTAA - Frameshift p.R422Lfs*5 c.1263_1266delTAGA 5 38966776 HC C T Missense p.A101T c.301G>A 5 39002728 BRCA C T Missense p.D1604N c.4810G>A 5 38944651 BRCA C T Missense p.D366N c.1096G>A 5 38967494 LUAD C T Missense p.D36N c.106G>A 5 39021230 BRCA C T Missense p.E1505K c.4513G>A 5 38945713 MB C T Missense p.E918K c.2752G>A 5 38953601 CM C T Missense p.G17E c.50G>A 5 39074260 CM C T Missense p.G305R c.913G>A 5 38972038 GBM C T Missense p.G860D c.2579G>A 5 38955727 RCCC C T Missense p.R1613H c.4838G>A 5 38944623 HNSC C T Missense p.R821K c.2462G>A 5 38957791 HNSC C T Synonymous p.A472A c.1416C>T 5 38963128 GBM C T Synonymous p.K1265K c.3795G>A 5 38950155 SCLC C T Synonymous p.L1395L c.4185G>A 5 38947495 BLCA C T Synonymous p.L1395L c.4185G>A 5 38947495 OV C T Synonymous p.L842L c.2526G>A 5 38955780 BLCA C T Synonymous p.S1284S c.3852G>A 5 38950098 UCEC G A 3-UTRSNV . c.5124+125C>T 5 38942284 CM G A IntronicSNV . c.4914-26C>T 5 38943099 CM G A IntronicSNV . c.754-19C>T 5 38978771 STAD G A Missense p.A106V c.317C>T 5 39002712 UCEC G A Missense p.H1543Y c.4627C>T 5 38945599 STAD G A Missense p.H480Y c.1438C>T 5 38963106 CM G A Missense p.H889Y c.2665C>T 5 38954908 CM G A Missense p.L1062F c.3184C>T 5 38950766 CM G A Missense p.L42F c.124C>T 5 39021212 LUAD G A Missense p.P1443S c.4327C>T 5 38946642 CM G A Missense p.P1567L c.4700C>T 5 38945104 CM G A Missense p.P1668L c.5003C>T 5 38942984 STAD G A Missense p.P874S c.2620C>T 5 38954953 BRCA G A Missense p.R336C c.1006C>T 5 38968099 CM G A Missense p.R865C c.2593C>T 5 38955713 ESCA G A Missense p.S1101L c.3302C>T 5 38950648 CM G A Missense p.S1373F c.4118C>T 5 38949832 OV G A Missense p.T1664I c.4991C>T 5 38942996 CLL G A Nonsense p.Q510* c.1528C>T 5 38963016 LUAD G A Nonsense p.Q569* c.1705C>T 5 38962427 LUSC G A Nonsense p.R185* c.553C>T 5 38991081 COREAD G A Nonsense p.R293* c.877C>T 5 38975651 CM G A Synonymous p.C606C c.1818C>T 5 38960533 LUSC G A Synonymous p.F479F c.1437C>T 5 38963107 LUSC G A Synonymous p.H832H c.2496C>T 5 38957757 NSCLC G A Synonymous p.I964I c.2892C>T 5 38953092 LUAD G A Synonymous p.L110L c.330C>T 5 39002699 STAD G A Synonymous p.L1529L c.4585C>T 5 38945641 CM G A Synonymous p.L452L c.1354C>T 5 38964940 CM G A Synonymous p.S795S c.2385C>T 5 38958580 BRCA G A Synonymous p.T654T c.1962C>T 5 38959970 LUAD G C Missense p.A283G c.848C>G 5 38975680 LUAD G C Missense p.L121V c.361C>G 5 39002668 BRCA G C Missense p.L30V c.88C>G 5 39074222 LUAD G C Missense p.S1076C c.3227C>G 5 38950723 HNSC G C Missense p.S1346C c.4037C>G 5 38949913 LUAD G C Missense p.T504R c.1511C>G 5 38963033 BLCA G C Synonymous p.V1620V c.4860C>G 5 38944601 BRCA G T Missense p.P340T c.1018C>A 5 38968087 LUAD T A Synonymous p.T733T c.2199A>T 5 38958913 RCCC T C IntronicSNV . c.195+245A>G 5 39020896 CLL T C Missense p.N1065S c.3194A>G 5 38950756 RCCC T C Missense p.Q1557R c.4670A>G 5 38945134 LUAD T C Missense p.R1299G c.3895A>G 5 38950055 LUSC T C Missense p.Y332C c.995A>G 5 38968110 COREAD T C Synonymous p.L1022L c.3066A>G 5 38952359 BRCA T C Synonymous p.V969V c.2907A>G 5 38952518 OV T - Frameshift p.Q506Rfs*24 c.1517delA 5 38963027 RCCC T G IntronicSNV . c.4913+198A>C 5 38944350 CM T G Missense p.K1184Q c.3550A>C 5 38950400 HNSC T G Missense p.S361R c.1081A>C 5 38967509 BRCA T G Synonymous p.S1585S c.4755A>C 5 38945049 PRAD