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 2 203972654 203972654 + Silent SNP G G A TCGA-OR-A5JB-01A-11D-A29I-10 TCGA-OR-A5JB-10A-01D-A29L-10 g.chr2:203972654G>A c.1605G>A c.(1603-1605)ctG>ctA p.L535L ACC 2 204032074 204032075 + Frame_Shift_Ins INS - - A TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr2:204032074_204032075insA c.5901_5902insA c.(5902-5904)aaafs p.K1968fs ACC 2 204032081 204032081 + Missense_Mutation SNP G G A TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr2:204032081G>A c.5908G>A c.(5908-5910)Gag>Aag p.E1970K ACC 2 204039945 204039945 + Silent SNP G G T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr2:204039945G>T c.6312G>T c.(6310-6312)ggG>ggT p.G2104G ACC 2 204075696 204075696 + Missense_Mutation SNP C C T TCGA-OR-A5JB-01A-11D-A29I-10 TCGA-OR-A5JB-10A-01D-A29L-10 g.chr2:204075696C>T c.7714C>T c.(7714-7716)Cat>Tat p.H2572Y BLCA 2 204000680 204000680 + Missense_Mutation SNP C C T TCGA-XF-AAN0-01A-11D-A42E-08 TCGA-XF-AAN0-10A-01D-A42H-08 g.chr2:204000680C>T c.4007C>T c.(4006-4008)tCt>tTt p.S1336F BLCA 2 204000762 204000762 + Silent SNP C C T TCGA-DK-AA6Q-01A-11D-A391-08 TCGA-DK-AA6Q-10A-01D-A394-08 g.chr2:204000762C>T c.4089C>T c.(4087-4089)ttC>ttT p.F1363F BLCA 2 204002904 204002904 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr2:204002904G>C c.4498G>C c.(4498-4500)Gaa>Caa p.E1500Q BLCA 2 204002917 204002917 + Nonsense_Mutation SNP C C G TCGA-BT-A42E-01A-11D-A23U-08 TCGA-BT-A42E-10A-01D-A23U-08 g.chr2:204002917C>G c.4511C>G c.(4510-4512)tCa>tGa p.S1504* BLCA 2 204003001 204003001 + Missense_Mutation SNP C C T TCGA-BT-A42E-01A-11D-A23U-08 TCGA-BT-A42E-10A-01D-A23U-08 g.chr2:204003001C>T c.4595C>T c.(4594-4596)tCa>tTa p.S1532L BLCA 2 204003357 204003357 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 g.chr2:204003357G>C c.4647G>C c.(4645-4647)atG>atC p.M1549I BLCA 2 204016211 204016211 + Missense_Mutation SNP A A T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 g.chr2:204016211A>T c.5399A>T c.(5398-5400)aAg>aTg p.K1800M BLCA 2 204016299 204016299 + Missense_Mutation SNP G G C TCGA-GU-AATO-01A-11D-A391-08 TCGA-GU-AATO-10A-01D-A394-08 g.chr2:204016299G>C c.5487G>C c.(5485-5487)ttG>ttC p.L1829F BLCA 2 204022421 204022421 + Splice_Site SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 g.chr2:204022421G>A c.e35-1 BLCA 2 204037541 204037541 + Silent SNP A A T TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr2:204037541A>T c.6201A>T c.(6199-6201)gtA>gtT p.V2067V BLCA 2 204055050 204055050 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr2:204055050G>C c.6772G>C c.(6772-6774)Gaa>Caa p.E2258Q BLCA 2 204055101 204055101 + Missense_Mutation SNP C C G TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr2:204055101C>G c.6823C>G c.(6823-6825)Caa>Gaa p.Q2275E BLCA 2 204058599 204058599 + Nonsense_Mutation SNP C C T TCGA-E7-A541-01A-11D-A26M-08 TCGA-E7-A541-10A-01D-A26K-08 g.chr2:204058599C>T c.6916C>T c.(6916-6918)Caa>Taa p.Q2306* BLCA 2 204058632 204058632 + Missense_Mutation SNP G G C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 g.chr2:204058632G>C c.6949G>C c.(6949-6951)Gag>Cag p.E2317Q BLCA 2 204064152 204064152 + Missense_Mutation SNP A A T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 g.chr2:204064152A>T c.7133A>T c.(7132-7134)cAa>cTa p.Q2378L BLCA 2 204066416 204066416 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 g.chr2:204066416C>G c.7302C>G c.(7300-7302)atC>atG p.I2434M BLCA 2 204074025 204074025 + Missense_Mutation SNP G G A TCGA-ZF-A9RG-01A-21D-A42E-08 TCGA-ZF-A9RG-10A-01D-A42H-08 g.chr2:204074025G>A c.7678G>A c.(7678-7680)Gaa>Aaa p.E2560K BLCA 2 204075686 204075686 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 g.chr2:204075686G>C c.7704G>C c.(7702-7704)aaG>aaC p.K2568N BLCA 2 204078256 204078256 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 g.chr2:204078256C>G c.7863C>G c.(7861-7863)atC>atG p.I2621M BLCA 2 204078320 204078320 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr2:204078320C>G c.7927C>G c.(7927-7929)Ctt>Gtt p.L2643V BRCA 2 203980744 203980744 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:203980744C>G c.2456C>G c.(2455-2457)tCt>tGt p.S819C BRCA 2 203990152 203990152 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 g.chr2:203990152G>C c.2673G>C c.(2671-2673)caG>caC p.Q891H BRCA 2 203992635 203992635 + Missense_Mutation SNP T T C TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 g.chr2:203992635T>C c.3293T>C c.(3292-3294)aTa>aCa p.I1098T BRCA 2 203995183 203995183 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 g.chr2:203995183G>C c.3461G>C c.(3460-3462)aGa>aCa p.R1154T BRCA 2 204001448 204001448 + Missense_Mutation SNP C C A TCGA-A1-A0SN-01A-11D-A142-09 TCGA-A1-A0SN-10B-01D-A142-09 g.chr2:204001448C>A c.4429C>A c.(4429-4431)Cca>Aca p.P1477T BRCA 2 204001452 204001452 + Missense_Mutation SNP G G T TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 g.chr2:204001452G>T c.4433G>T c.(4432-4434)gGa>gTa p.G1478V BRCA 2 204002928 204002928 + Nonsense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr2:204002928G>T c.4522G>T c.(4522-4524)Gaa>Taa p.E1508* BRCA 2 204009439 204009439 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:204009439C>G c.4878C>G c.(4876-4878)atC>atG p.I1626M BRCA 2 204009564 204009564 + Missense_Mutation SNP C C T TCGA-A8-A08L-01A-11W-A019-09 TCGA-A8-A08L-10A-01W-A021-09 g.chr2:204009564C>T c.5003C>T c.(5002-5004)tCa>tTa p.S1668L BRCA 2 204016194 204016194 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr2:204016194G>A c.5382G>A c.(5380-5382)caG>caA p.Q1794Q BRCA 2 204016301 204016301 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:204016301G>C c.5489G>C c.(5488-5490)aGa>aCa p.R1830T BRCA 2 204022515 204022515 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr2:204022515T>A c.5594T>A c.(5593-5595)cTt>cAt p.L1865H BRCA 2 204030948 204030948 + Missense_Mutation SNP G G T TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 g.chr2:204030948G>T c.5704G>T c.(5704-5706)Gta>Tta p.V1902L BRCA 2 204031988 204031988 + Nonsense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr2:204031988C>T c.5815C>T c.(5815-5817)Cga>Tga p.R1939* BRCA 2 204037478 204037478 + Silent SNP T T G TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 g.chr2:204037478T>G c.6138T>G c.(6136-6138)acT>acG p.T2046T BRCA 2 204045211 204045211 + Missense_Mutation SNP C C G TCGA-A8-A099-01A-11W-A019-09 TCGA-A8-A099-10A-01W-A021-09 g.chr2:204045211C>G c.6484C>G c.(6484-6486)Cca>Gca p.P2162A BRCA 2 204058611 204058611 + Nonsense_Mutation SNP G G T TCGA-E9-A1R4-01A-21D-A14G-09 TCGA-E9-A1R4-10A-01D-A14G-09 g.chr2:204058611G>T c.6928G>T c.(6928-6930)Gaa>Taa p.E2310* CESC 2 203948108 203948108 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr2:203948108C>G c.851C>G c.(850-852)tCt>tGt p.S284C CESC 2 203948174 203948174 + Missense_Mutation SNP A A T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr2:203948174A>T c.917A>T c.(916-918)cAt>cTt p.H306L CESC 2 203948177 203948177 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr2:203948177C>T c.920C>T c.(919-921)tCa>tTa p.S307L CESC 2 203948191 203948191 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr2:203948191C>T c.934C>T c.(934-936)Caa>Taa p.Q312* CESC 2 203972541 203972541 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr2:203972541G>C c.1492G>C c.(1492-1494)Gac>Cac p.D498H CESC 2 204000415 204000415 + Nonsense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 g.chr2:204000415C>T c.3742C>T c.(3742-3744)Cag>Tag p.Q1248* CESC 2 204000956 204000956 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr2:204000956C>G c.4283C>G c.(4282-4284)tCt>tGt p.S1428C CESC 2 204013810 204013810 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 g.chr2:204013810C>G c.5314C>G c.(5314-5316)Ctt>Gtt p.L1772V CESC 2 204016230 204016230 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr2:204016230T>G c.5418T>G c.(5416-5418)aaT>aaG p.N1806K CESC 2 204048102 204048102 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 g.chr2:204048102G>C c.6609G>C c.(6607-6609)agG>agC p.R2203S CESC 2 204073911 204073911 + Nonsense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 g.chr2:204073911C>T c.7564C>T c.(7564-7566)Cag>Tag p.Q2522* CESC 2 204074025 204074025 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 g.chr2:204074025G>A c.7678G>A c.(7678-7680)Gaa>Aaa p.E2560K CESC 2 204075737 204075737 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr2:204075737C>G c.7755C>G c.(7753-7755)atC>atG p.I2585M CESC 2 204075772 204075772 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 g.chr2:204075772G>C c.7790G>C c.(7789-7791)gGa>gCa p.G2597A CHOL 2 203995146 203995146 + Missense_Mutation SNP G G T TCGA-W5-AA2Z-01A-11D-A417-09 TCGA-W5-AA2Z-11A-11D-A41A-09 g.chr2:203995146G>T c.3424G>T c.(3424-3426)Gca>Tca p.A1142S CHOL 2 204000456 204000456 + Silent SNP G G T TCGA-ZH-A8Y6-01A-11D-A417-09 TCGA-ZH-A8Y6-10A-01D-A41A-09 g.chr2:204000456G>T c.3783G>T c.(3781-3783)gtG>gtT p.V1261V CHOL 2 204022462 204022462 + Frame_Shift_Del DEL G G - TCGA-W5-AA2G-01A-11D-A417-09 TCGA-W5-AA2G-10A-01D-A41A-09 g.chr2:204022462delG c.5541delG c.(5539-5541)ttgfs p.L1847fs COAD 2 203922115 203922115 + Missense_Mutation SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr2:203922115G>A c.454G>A c.(454-456)Gca>Aca p.A152T COAD 2 203933118 203933118 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:203933118G>A c.518G>A c.(517-519)cGa>cAa p.R173Q COAD 2 203972189 203972189 + Missense_Mutation SNP T T C TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr2:203972189T>C c.1229T>C c.(1228-1230)tTa>tCa p.L410S COAD 2 203972486 203972486 + Missense_Mutation SNP G G T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr2:203972486G>T c.1437G>T c.(1435-1437)caG>caT p.Q479H COAD 2 203995146 203995146 + Missense_Mutation SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr2:203995146G>A c.3424G>A c.(3424-3426)Gca>Aca p.A1142T COAD 2 204000701 204000701 + Missense_Mutation SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:204000701T>C c.4028T>C c.(4027-4029)tTa>tCa p.L1343S COAD 2 204000786 204000786 + Silent SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr2:204000786G>A c.4113G>A c.(4111-4113)ttG>ttA p.L1371L COAD 2 204001398 204001398 + Missense_Mutation SNP A A G TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr2:204001398A>G c.4379A>G c.(4378-4380)gAt>gGt p.D1460G COAD 2 204009566 204009566 + Frame_Shift_Del DEL T T - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:204009566delT c.5005delT c.(5005-5007)tttfs p.F1670fs COAD 2 204016238 204016238 + Missense_Mutation SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr2:204016238G>A c.5426G>A c.(5425-5427)cGc>cAc p.R1809H COAD 2 204031988 204031988 + Nonsense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:204031988C>T c.5815C>T c.(5815-5817)Cga>Tga p.R1939* COAD 2 204034491 204034491 + Silent SNP C C A TCGA-DM-A1D7-01A-11D-A152-10 TCGA-DM-A1D7-10A-01D-A152-10 g.chr2:204034491C>A c.5932C>A c.(5932-5934)Cga>Aga p.R1978R COAD 2 204037521 204037521 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:204037521C>A c.6181C>A c.(6181-6183)Ctt>Att p.L2061I COAD 2 204039880 204039880 + Missense_Mutation SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:204039880T>G c.6247T>G c.(6247-6249)Ttt>Gtt p.F2083V COAD 2 204039964 204039964 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:204039964C>T c.6331C>T c.(6331-6333)Cgt>Tgt p.R2111C COAD 2 204039965 204039965 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:204039965G>A c.6332G>A c.(6331-6333)cGt>cAt p.R2111H COAD 2 204048090 204048090 + Missense_Mutation SNP C C G TCGA-AD-6963-01A-11D-1924-10 TCGA-AD-6963-10A-01D-1924-10 g.chr2:204048090C>G c.6597C>G c.(6595-6597)atC>atG p.I2199M COAD 2 204053285 204053285 + Missense_Mutation SNP A A G TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr2:204053285A>G c.6709A>G c.(6709-6711)Aac>Gac p.N2237D COAD 2 204055107 204055107 + Silent SNP T T C TCGA-D5-5538-01A-01D-1650-10 TCGA-D5-5538-10A-02D-1650-10 g.chr2:204055107T>C c.6829T>C c.(6829-6831)Tta>Cta p.L2277L COAD 2 204058623 204058623 + Frame_Shift_Del DEL T T - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:204058623delT c.6940delT c.(6940-6942)tttfs p.F2315fs COAD 2 204064099 204064099 + Silent SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:204064099A>G c.7080A>G c.(7078-7080)ggA>ggG p.G2360G COAD 2 204064140 204064140 + Missense_Mutation SNP T T C TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:204064140T>C c.7121T>C c.(7120-7122)tTc>tCc p.F2374S COAD 2 204067431 204067431 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr2:204067431C>T c.7346C>T c.(7345-7347)aCa>aTa p.T2449I COAD 2 204074029 204074029 + Frame_Shift_Del DEL A A - TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr2:204074029delA c.7682delA c.(7681-7683)gaafs p.E2561fs COAD 2 204078342 204078342 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:204078342A>C c.7949A>C c.(7948-7950)aAa>aCa p.K2650T COADREAD 2 203922115 203922115 + Missense_Mutation SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr2:203922115G>A c.454G>A c.(454-456)Gca>Aca p.A152T COADREAD 2 203933118 203933118 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:203933118G>A c.518G>A c.(517-519)cGa>cAa p.R173Q COADREAD 2 203972179 203972179 + Missense_Mutation SNP C C T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr2:203972179C>T c.1219C>T c.(1219-1221)Ctt>Ttt p.L407F COADREAD 2 203972189 203972189 + Missense_Mutation SNP T T C TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr2:203972189T>C c.1229T>C c.(1228-1230)tTa>tCa p.L410S COADREAD 2 203972486 203972486 + Missense_Mutation SNP G G T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr2:203972486G>T c.1437G>T c.(1435-1437)caG>caT p.Q479H COADREAD 2 203995146 203995146 + Missense_Mutation SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr2:203995146G>A c.3424G>A c.(3424-3426)Gca>Aca p.A1142T COADREAD 2 204000701 204000701 + Missense_Mutation SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:204000701T>C c.4028T>C c.(4027-4029)tTa>tCa p.L1343S COADREAD 2 204000786 204000786 + Silent SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr2:204000786G>A c.4113G>A c.(4111-4113)ttG>ttA p.L1371L COADREAD 2 204001398 204001398 + Missense_Mutation SNP A A G TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr2:204001398A>G c.4379A>G c.(4378-4380)gAt>gGt p.D1460G COADREAD 2 204009566 204009566 + Frame_Shift_Del DEL T T - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:204009566delT c.5005delT c.(5005-5007)tttfs p.F1670fs COADREAD 2 204016238 204016238 + Missense_Mutation SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr2:204016238G>A c.5426G>A c.(5425-5427)cGc>cAc p.R1809H COADREAD 2 204031988 204031988 + Nonsense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:204031988C>T c.5815C>T c.(5815-5817)Cga>Tga p.R1939* COADREAD 2 204034491 204034491 + Silent SNP C C A TCGA-DM-A1D7-01A-11D-A152-10 TCGA-DM-A1D7-10A-01D-A152-10 g.chr2:204034491C>A c.5932C>A c.(5932-5934)Cga>Aga p.R1978R COADREAD 2 204037521 204037521 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:204037521C>A c.6181C>A c.(6181-6183)Ctt>Att p.L2061I COADREAD 2 204039880 204039880 + Missense_Mutation SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:204039880T>G c.6247T>G c.(6247-6249)Ttt>Gtt p.F2083V COADREAD 2 204039964 204039964 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:204039964C>T c.6331C>T c.(6331-6333)Cgt>Tgt p.R2111C COADREAD 2 204039965 204039965 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:204039965G>A c.6332G>A c.(6331-6333)cGt>cAt p.R2111H COADREAD 2 204048090 204048090 + Missense_Mutation SNP C C G TCGA-AD-6963-01A-11D-1924-10 TCGA-AD-6963-10A-01D-1924-10 g.chr2:204048090C>G c.6597C>G c.(6595-6597)atC>atG p.I2199M COADREAD 2 204053285 204053285 + Missense_Mutation SNP A A G TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr2:204053285A>G c.6709A>G c.(6709-6711)Aac>Gac p.N2237D COADREAD 2 204055107 204055107 + Silent SNP T T C TCGA-D5-5538-01A-01D-1650-10 TCGA-D5-5538-10A-02D-1650-10 g.chr2:204055107T>C c.6829T>C c.(6829-6831)Tta>Cta p.L2277L COADREAD 2 204058623 204058623 + Frame_Shift_Del DEL T T - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:204058623delT c.6940delT c.(6940-6942)tttfs p.F2315fs COADREAD 2 204064099 204064099 + Silent SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:204064099A>G c.7080A>G c.(7078-7080)ggA>ggG p.G2360G COADREAD 2 204064140 204064140 + Missense_Mutation SNP T T C TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:204064140T>C c.7121T>C c.(7120-7122)tTc>tCc p.F2374S COADREAD 2 204067431 204067431 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr2:204067431C>T c.7346C>T c.(7345-7347)aCa>aTa p.T2449I COADREAD 2 204074005 204074005 + Missense_Mutation SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:204074005T>C c.7658T>C c.(7657-7659)aTt>aCt p.I2553T COADREAD 2 204074029 204074029 + Frame_Shift_Del DEL A A - TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr2:204074029delA c.7682delA c.(7681-7683)gaafs p.E2561fs COADREAD 2 204078342 204078342 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:204078342A>C c.7949A>C c.(7948-7950)aAa>aCa p.K2650T DLBC 2 203922075 203922075 + Silent SNP A A G TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr2:203922075A>G c.414A>G c.(412-414)gaA>gaG p.E138E DLBC 2 204002925 204002926 + Frame_Shift_Del DEL AG AG - TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr2:204002925_204002926delAG c.4519_4520delAG c.(4519-4521)agafs p.R1507fs DLBC 2 204058557 204058557 + Missense_Mutation SNP C C G TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr2:204058557C>G c.6874C>G c.(6874-6876)Cag>Gag p.Q2292E ESCA 2 203972214 203972214 + Silent SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 g.chr2:203972214G>T c.1254G>T c.(1252-1254)ctG>ctT p.L418L ESCA 2 203975005 203975006 + Splice_Site DNP GG GG CA TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 g.chr2:203975005_203975006GG>CA c.1995_1995GG>CA c.(1993-1995)tgGG>tgCAg p.W665C ESCA 2 203991643 203991643 + Missense_Mutation SNP A A G TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 g.chr2:203991643A>G c.3155A>G c.(3154-3156)tAt>tGt p.Y1052C ESCA 2 204016238 204016238 + Missense_Mutation SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 g.chr2:204016238G>T c.5426G>T c.(5425-5427)cGc>cTc p.R1809L ESCA 2 204039885 204039885 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 g.chr2:204039885G>T c.6252G>T c.(6250-6252)gaG>gaT p.E2084D ESCA 2 204048019 204048019 + Missense_Mutation SNP C C G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 g.chr2:204048019C>G c.6526C>G c.(6526-6528)Cta>Gta p.L2176V ESCA 2 204053201 204053201 + Missense_Mutation SNP G G C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 g.chr2:204053201G>C c.6625G>C c.(6625-6627)Gaa>Caa p.E2209Q ESCA 2 204058577 204058577 + Silent SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 g.chr2:204058577C>T c.6894C>T c.(6892-6894)gaC>gaT p.D2298D ESCA 2 204058623 204058623 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr2:204058623delT c.6940delT c.(6940-6942)tttfs p.F2315fs GBM 2 204000539 204000539 + Missense_Mutation SNP T T C TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 g.chr2:204000539T>C c.3866T>C c.(3865-3867)gTt>gCt p.V1289A GBM 2 204002914 204002914 + Missense_Mutation SNP T T C TCGA-06-0173-01A-01D-1491-08 TCGA-06-0173-10B-01D-1491-08 g.chr2:204002914T>C c.4508T>C c.(4507-4509)aTc>aCc p.I1503T GBM 2 204037528 204037528 + Missense_Mutation SNP A A G TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 g.chr2:204037528A>G c.6188A>G c.(6187-6189)aAa>aGa p.K2063R GBMLGG 2 204000539 204000539 + Missense_Mutation SNP T T C TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 g.chr2:204000539T>C c.3866T>C c.(3865-3867)gTt>gCt p.V1289A GBMLGG 2 204000598 204000599 + Frame_Shift_Ins INS - - A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:204000598_204000599insA c.3925_3926insA c.(3925-3927)gaafs p.E1309fs GBMLGG 2 204001395 204001395 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:204001395C>A c.4376C>A c.(4375-4377)tCt>tAt p.S1459Y GBMLGG 2 204001498 204001498 + Splice_Site SNP G G A TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 g.chr2:204001498G>A c.e28+1 GBMLGG 2 204002914 204002914 + Missense_Mutation SNP T T C TCGA-06-0173-01A-01D-1491-08 TCGA-06-0173-10B-01D-1491-08 g.chr2:204002914T>C c.4508T>C c.(4507-4509)aTc>aCc p.I1503T GBMLGG 2 204003429 204003429 + Missense_Mutation SNP G G C TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 g.chr2:204003429G>C c.4719G>C c.(4717-4719)caG>caC p.Q1573H GBMLGG 2 204013825 204013825 + Missense_Mutation SNP G G C TCGA-FG-A6J3-01A-11D-A31L-08 TCGA-FG-A6J3-10A-01D-A31J-08 g.chr2:204013825G>C c.5329G>C c.(5329-5331)Gca>Cca p.A1777P GBMLGG 2 204037528 204037528 + Missense_Mutation SNP A A G TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 g.chr2:204037528A>G c.6188A>G c.(6187-6189)aAa>aGa p.K2063R GBMLGG 2 204066361 204066361 + Missense_Mutation SNP C C T TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 g.chr2:204066361C>T c.7247C>T c.(7246-7248)gCt>gTt p.A2416V HNSC 2 204000745 204000745 + Missense_Mutation SNP G G C TCGA-WA-A7GZ-01A-11D-A34J-08 TCGA-WA-A7GZ-10A-01D-A34M-08 g.chr2:204000745G>C c.4072G>C c.(4072-4074)Gag>Cag p.E1358Q HNSC 2 204000956 204000956 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 g.chr2:204000956C>G c.4283C>G c.(4282-4284)tCt>tGt p.S1428C HNSC 2 204000972 204000972 + Silent SNP A A G TCGA-CV-A6JN-01A-11D-A31L-08 TCGA-CV-A6JN-10A-01D-A31J-08 g.chr2:204000972A>G c.4299A>G c.(4297-4299)caA>caG p.Q1433Q HNSC 2 204009620 204009620 + Missense_Mutation SNP G G C TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 g.chr2:204009620G>C c.5059G>C c.(5059-5061)Gaa>Caa p.E1687Q HNSC 2 204009827 204009827 + Missense_Mutation SNP A A T TCGA-IQ-A61E-01A-22D-A30E-08 TCGA-IQ-A61E-10A-01D-A30H-08 g.chr2:204009827A>T c.5161A>T c.(5161-5163)Atg>Ttg p.M1721L HNSC 2 204016213 204016213 + Missense_Mutation SNP C C G TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 g.chr2:204016213C>G c.5401C>G c.(5401-5403)Cta>Gta p.L1801V HNSC 2 204032068 204032068 + Silent SNP C C T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 g.chr2:204032068C>T c.5895C>T c.(5893-5895)ctC>ctT p.L1965L HNSC 2 204034488 204034488 + Missense_Mutation SNP A A G TCGA-HD-A6I0-01A-11D-A31L-08 TCGA-HD-A6I0-10A-01D-A31J-08 g.chr2:204034488A>G c.5929A>G c.(5929-5931)Agc>Ggc p.S1977G HNSC 2 204039938 204039938 + Missense_Mutation SNP C C T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 g.chr2:204039938C>T c.6305C>T c.(6304-6306)tCt>tTt p.S2102F HNSC 2 204039942 204039942 + Silent SNP G G T TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chr2:204039942G>T c.6309G>T c.(6307-6309)gcG>gcT p.A2103A HNSC 2 204053284 204053284 + Silent SNP C C G TCGA-QK-AA3J-01A-11D-A391-08 TCGA-QK-AA3J-10A-01D-A394-08 g.chr2:204053284C>G c.6708C>G c.(6706-6708)ctC>ctG p.L2236L HNSC 2 204055018 204055018 + Missense_Mutation SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr2:204055018C>T c.6740C>T c.(6739-6741)gCt>gTt p.A2247V HNSC 2 204058534 204058534 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 g.chr2:204058534G>C c.6851G>C c.(6850-6852)aGa>aCa p.R2284T HNSC 2 204066426 204066426 + Missense_Mutation SNP A A G TCGA-QK-A8Z9-01B-11D-A391-08 TCGA-QK-A8Z9-10A-01D-A394-08 g.chr2:204066426A>G c.7312A>G c.(7312-7314)Atc>Gtc p.I2438V HNSC 2 204073440 204073440 + Silent SNP C C T TCGA-WA-A7GZ-01A-11D-A34J-08 TCGA-WA-A7GZ-10A-01D-A34M-08 g.chr2:204073440C>T c.7500C>T c.(7498-7500)atC>atT p.I2500I HNSC 2 204078257 204078257 + Missense_Mutation SNP A A T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 g.chr2:204078257A>T c.7864A>T c.(7864-7866)Aac>Tac p.N2622Y HNSC 2 204078305 204078305 + Missense_Mutation SNP G G C TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 g.chr2:204078305G>C c.7912G>C c.(7912-7914)Gaa>Caa p.E2638Q KICH 2 204002940 204002940 + Missense_Mutation SNP A A G TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr2:204002940A>G c.4534A>G c.(4534-4536)Aat>Gat p.N1512D KICH 2 204055051 204055051 + Missense_Mutation SNP A A G TCGA-KL-8334-01A-11D-2310-10 TCGA-KL-8334-11A-01D-2310-10 g.chr2:204055051A>G c.6773A>G c.(6772-6774)gAa>gGa p.E2258G KIPAN 2 203972839 203972839 + Nonsense_Mutation SNP G G A TCGA-AT-A5NU-01A-11D-A28G-10 TCGA-AT-A5NU-10A-01D-A28G-10 g.chr2:203972839G>A c.1790G>A c.(1789-1791)tGg>tAg p.W597* KIPAN 2 204002940 204002940 + Missense_Mutation SNP A A G TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr2:204002940A>G c.4534A>G c.(4534-4536)Aat>Gat p.N1512D KIPAN 2 204002984 204002984 + Silent SNP A A T TCGA-BP-5173-01A-01D-1429-08 TCGA-BP-5173-11A-01D-1429-08 g.chr2:204002984A>T c.4578A>T c.(4576-4578)atA>atT p.I1526I KIPAN 2 204009565 204009566 + Frame_Shift_Ins INS - - T TCGA-B9-A5W9-01A-11D-A28G-10 TCGA-B9-A5W9-10A-01D-A28G-10 g.chr2:204009565_204009566insT c.5004_5005insT c.(5005-5007)tttfs p.F1669fs KIPAN 2 204039877 204039877 + Missense_Mutation SNP A A T TCGA-A4-7996-01A-11D-2201-08 TCGA-A4-7996-10A-01D-2201-08 g.chr2:204039877A>T c.6244A>T c.(6244-6246)Aat>Tat p.N2082Y KIPAN 2 204039911 204039911 + Missense_Mutation SNP T T A TCGA-BP-4787-01A-01D-1373-10 TCGA-BP-4787-11A-01D-1373-10 g.chr2:204039911T>A c.6278T>A c.(6277-6279)tTt>tAt p.F2093Y KIPAN 2 204045216 204045217 + Frame_Shift_Del DEL GT GT - TCGA-CJ-6027-01A-11D-1669-08 TCGA-CJ-6027-11A-01D-1669-08 g.chr2:204045216_204045217delGT c.6489_6490delGT c.(6487-6492)gagtttfs p.EF2163fs KIPAN 2 204055051 204055051 + Missense_Mutation SNP A A G TCGA-KL-8334-01A-11D-2310-10 TCGA-KL-8334-11A-01D-2310-10 g.chr2:204055051A>G c.6773A>G c.(6772-6774)gAa>gGa p.E2258G KIPAN 2 204058575 204058575 + Missense_Mutation SNP G G T TCGA-G7-6793-01A-11D-1961-08 TCGA-G7-6793-10A-01D-1962-08 g.chr2:204058575G>T c.6892G>T c.(6892-6894)Gac>Tac p.D2298Y KIRC 2 204002984 204002984 + Silent SNP A A T TCGA-BP-5173-01A-01D-1429-08 TCGA-BP-5173-11A-01D-1429-08 g.chr2:204002984A>T c.4578A>T c.(4576-4578)atA>atT p.I1526I KIRC 2 204039911 204039911 + Missense_Mutation SNP T T A TCGA-BP-4787-01A-01D-1373-10 TCGA-BP-4787-11A-01D-1373-10 g.chr2:204039911T>A c.6278T>A c.(6277-6279)tTt>tAt p.F2093Y KIRC 2 204045216 204045217 + Frame_Shift_Del DEL GT GT - TCGA-CJ-6027-01A-11D-1669-08 TCGA-CJ-6027-11A-01D-1669-08 g.chr2:204045216_204045217delGT c.6489_6490delGT c.(6487-6492)gagtttfs p.EF2163fs KIRP 2 203972839 203972839 + Nonsense_Mutation SNP G G A TCGA-AT-A5NU-01A-11D-A28G-10 TCGA-AT-A5NU-10A-01D-A28G-10 g.chr2:203972839G>A c.1790G>A c.(1789-1791)tGg>tAg p.W597* KIRP 2 204009565 204009566 + Frame_Shift_Ins INS - - T TCGA-B9-A5W9-01A-11D-A28G-10 TCGA-B9-A5W9-10A-01D-A28G-10 g.chr2:204009565_204009566insT c.5004_5005insT c.(5005-5007)tttfs p.F1669fs KIRP 2 204039877 204039877 + Missense_Mutation SNP A A T TCGA-A4-7996-01A-11D-2201-08 TCGA-A4-7996-10A-01D-2201-08 g.chr2:204039877A>T c.6244A>T c.(6244-6246)Aat>Tat p.N2082Y KIRP 2 204058575 204058575 + Missense_Mutation SNP G G T TCGA-G7-6793-01A-11D-1961-08 TCGA-G7-6793-10A-01D-1962-08 g.chr2:204058575G>T c.6892G>T c.(6892-6894)Gac>Tac p.D2298Y LAML 2 204045161 204045161 + Missense_Mutation SNP T T C TCGA-AB-2945-03A-01W-0733-08 TCGA-AB-2945-11A-01W-0732-08 g.chr2:204045161T>C c.6434T>C c.(6433-6435)aTg>aCg p.M2145T LGG 2 204000598 204000599 + Frame_Shift_Ins INS - - A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:204000598_204000599insA c.3925_3926insA c.(3925-3927)gaafs p.E1309fs LGG 2 204001395 204001395 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:204001395C>A c.4376C>A c.(4375-4377)tCt>tAt p.S1459Y LGG 2 204001498 204001498 + Splice_Site SNP G G A TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 g.chr2:204001498G>A c.e28+1 LGG 2 204003429 204003429 + Missense_Mutation SNP G G C TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 g.chr2:204003429G>C c.4719G>C c.(4717-4719)caG>caC p.Q1573H LGG 2 204013825 204013825 + Missense_Mutation SNP G G C TCGA-FG-A6J3-01A-11D-A31L-08 TCGA-FG-A6J3-10A-01D-A31J-08 g.chr2:204013825G>C c.5329G>C c.(5329-5331)Gca>Cca p.A1777P LGG 2 204066361 204066361 + Missense_Mutation SNP C C T TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 g.chr2:204066361C>T c.7247C>T c.(7246-7248)gCt>gTt p.A2416V LIHC 2 203881127 203881127 + Missense_Mutation SNP T T C TCGA-BC-A3KG-01A-11D-A20W-10 TCGA-BC-A3KG-10A-01D-A20W-10 g.chr2:203881127T>C c.20T>C c.(19-21)cTc>cCc p.L7P LIHC 2 203974873 203974873 + Splice_Site DEL T T - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr2:203974873delT c.1863delT c.(1861-1863)agt>ag p.S621fs LIHC 2 203987055 203987055 + Missense_Mutation SNP T T A TCGA-DD-AAEG-01A-11D-A38X-10 TCGA-DD-AAEG-10A-01D-A38X-10 g.chr2:203987055T>A c.2584T>A c.(2584-2586)Tgg>Agg p.W862R LIHC 2 203996708 203996708 + Missense_Mutation SNP A A G TCGA-DD-AAE7-01A-11D-A40R-10 TCGA-DD-AAE7-10A-01D-A40U-10 g.chr2:203996708A>G c.3490A>G c.(3490-3492)Atg>Gtg p.M1164V LIHC 2 203996824 203996824 + Missense_Mutation SNP T T G TCGA-DD-AAVY-01A-11D-A40R-10 TCGA-DD-AAVY-10A-01D-A40U-10 g.chr2:203996824T>G c.3606T>G c.(3604-3606)atT>atG p.I1202M LIHC 2 204009591 204009591 + Missense_Mutation SNP G G T TCGA-RC-A7SF-01A-11D-A34Z-10 TCGA-RC-A7SF-10A-01D-A34Z-10 g.chr2:204009591G>T c.5030G>T c.(5029-5031)tGt>tTt p.C1677F LIHC 2 204009854 204009854 + Missense_Mutation SNP G G A TCGA-G3-AAV7-01A-11D-A382-10 TCGA-G3-AAV7-10A-01D-A385-10 g.chr2:204009854G>A c.5188G>A c.(5188-5190)Gaa>Aaa p.E1730K LIHC 2 204031020 204031020 + Splice_Site SNP G G A TCGA-5C-A9VH-01A-11D-A36X-10 TCGA-5C-A9VH-10A-01D-A370-10 g.chr2:204031020G>A c.5776G>A c.(5776-5778)Gga>Aga p.G1926R LIHC 2 204045127 204045127 + Missense_Mutation SNP T T C TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr2:204045127T>C c.6400T>C c.(6400-6402)Ttc>Ctc p.F2134L LIHC 2 204066340 204066340 + Missense_Mutation SNP A A G TCGA-DD-AAEA-01A-11D-A40R-10 TCGA-DD-AAEA-10A-01D-A40U-10 g.chr2:204066340A>G c.7226A>G c.(7225-7227)gAt>gGt p.D2409G LIHC 2 204067444 204067444 + Silent SNP A A T TCGA-FV-A496-01A-11D-A25V-10 TCGA-FV-A496-10A-01D-A25V-10 g.chr2:204067444A>T c.7359A>T c.(7357-7359)ggA>ggT p.G2453G LIHC 2 204078361 204078361 + Silent SNP T T C TCGA-DD-AACF-01A-11D-A40R-10 TCGA-DD-AACF-10A-01D-A40U-10 g.chr2:204078361T>C c.7968T>C c.(7966-7968)gtT>gtC p.V2656V LUAD 2 204000719 204000719 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 g.chr2:204000719C>G c.4046C>G c.(4045-4047)tCt>tGt p.S1349C LUAD 2 204001388 204001388 + Missense_Mutation SNP G G A TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr2:204001388G>A c.4369G>A c.(4369-4371)Gaa>Aaa p.E1457K LUAD 2 204003370 204003370 + Missense_Mutation SNP G G T TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chr2:204003370G>T c.4660G>T c.(4660-4662)Gac>Tac p.D1554Y LUAD 2 204013744 204013744 + Missense_Mutation SNP G G A TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr2:204013744G>A c.5248G>A c.(5248-5250)Gca>Aca p.A1750T LUAD 2 204030880 204030882 + In_Frame_Del DEL AAG AAG - TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 g.chr2:204030880_204030882delAAG c.5636_5638delAAG c.(5635-5640)aaagaa>aaa p.E1881del LUAD 2 204030957 204030957 + Frame_Shift_Del DEL G G - TCGA-44-5643-01A-01D-1625-08 TCGA-44-5643-10A-01D-1625-08 g.chr2:204030957delG c.5713delG c.(5713-5715)ggcfs p.G1905fs LUAD 2 204036657 204036657 + Missense_Mutation SNP G G T TCGA-17-Z027-01A-01W-0746-08 TCGA-17-Z027-11A-01W-0746-08 g.chr2:204036657G>T c.6022G>T c.(6022-6024)Gta>Tta p.V2008L LUAD 2 204045223 204045223 + Nonsense_Mutation SNP G G T TCGA-86-8673-01A-11D-2393-08 TCGA-86-8673-10A-01D-2393-08 g.chr2:204045223G>T c.6496G>T c.(6496-6498)Gaa>Taa p.E2166* LUAD 2 204058616 204058616 + Silent SNP C C G TCGA-69-7974-01A-11D-2184-08 TCGA-69-7974-10A-01D-2184-08 g.chr2:204058616C>G c.6933C>G c.(6931-6933)ctC>ctG p.L2311L LUAD 2 204066416 204066416 + Missense_Mutation SNP C C G TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr2:204066416C>G c.7302C>G c.(7300-7302)atC>atG p.I2434M LUAD 2 204078335 204078335 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 g.chr2:204078335G>A c.7942G>A c.(7942-7944)Gat>Aat p.D2648N LUSC 2 204032030 204032030 + Missense_Mutation SNP C C T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 g.chr2:204032030C>T c.5857C>T c.(5857-5859)Ctt>Ttt p.L1953F LUSC 2 204066306 204066306 + Missense_Mutation SNP G G C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chr2:204066306G>C c.7192G>C c.(7192-7194)Gag>Cag p.E2398Q LUSC 2 204078285 204078285 + Missense_Mutation SNP A A G TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 g.chr2:204078285A>G c.7892A>G c.(7891-7893)cAt>cGt p.H2631R OV 2 204000786 204000786 + Missense_Mutation SNP G G C TCGA-25-1313-01A-01W-0492-08 TCGA-25-1313-10A-01W-0492-08 g.chr2:204000786G>C c.4113G>C c.(4111-4113)ttG>ttC p.L1371F OV 2 204075812 204075812 + Silent SNP T T G TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 g.chr2:204075812T>G c.7830T>G c.(7828-7830)tcT>tcG p.S2610S PAAD 2 204009335 204009335 + Missense_Mutation SNP G G A TCGA-2J-AABO-01A-21D-A40W-08 TCGA-2J-AABO-10A-01D-A40W-08 g.chr2:204009335G>A c.4774G>A c.(4774-4776)Gca>Aca p.A1592T PAAD 2 204016309 204016309 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:204016309C>T c.5497C>T c.(5497-5499)Ctg>Ttg p.L1833L PAAD 2 204032000 204032000 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:204032000C>A c.5827C>A c.(5827-5829)Ctc>Atc p.L1943I PRAD 2 204001353 204001353 + Missense_Mutation SNP C C G TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:204001353C>G c.4334C>G c.(4333-4335)aCa>aGa p.T1445R PRAD 2 204009786 204009786 + Missense_Mutation SNP A A G TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:204009786A>G c.5120A>G c.(5119-5121)gAg>gGg p.E1707G PRAD 2 204039932 204039932 + Nonsense_Mutation SNP C C G TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 g.chr2:204039932C>G c.6299C>G c.(6298-6300)tCa>tGa p.S2100* PRAD 2 204073899 204073899 + Missense_Mutation SNP A A G TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 g.chr2:204073899A>G c.7552A>G c.(7552-7554)Ata>Gta p.I2518V READ 2 203972179 203972179 + Missense_Mutation SNP C C T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr2:203972179C>T c.1219C>T c.(1219-1221)Ctt>Ttt p.L407F READ 2 204074005 204074005 + Missense_Mutation SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:204074005T>C c.7658T>C c.(7657-7659)aTt>aCt p.I2553T SARC 2 203942512 203942512 + Silent SNP T T G TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 g.chr2:203942512T>G c.636T>G c.(634-636)ctT>ctG p.L212L SARC 2 203972519 203972519 + Silent SNP G G T TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 g.chr2:203972519G>T c.1470G>T c.(1468-1470)ggG>ggT p.G490G SARC 2 203977921 203977921 + Missense_Mutation SNP T T C TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 g.chr2:203977921T>C c.2299T>C c.(2299-2301)Tca>Cca p.S767P SARC 2 203991416 203991416 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 g.chr2:203991416G>A c.3035G>A c.(3034-3036)cGt>cAt p.R1012H SKCM 2 203906494 203906494 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 g.chr2:203906494C>T c.58C>T c.(58-60)Cca>Tca p.P20S SKCM 2 203921152 203921152 + Missense_Mutation SNP A A C TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 g.chr2:203921152A>C c.308A>C c.(307-309)aAt>aCt p.N103T SKCM 2 203948235 203948235 + Missense_Mutation SNP G G T TCGA-EE-A2MU-06A-21D-A196-08 TCGA-EE-A2MU-10A-01D-A198-08 g.chr2:203948235G>T c.978G>T c.(976-978)caG>caT p.Q326H SKCM 2 203972708 203972708 + Silent SNP A A G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 g.chr2:203972708A>G c.1659A>G c.(1657-1659)gcA>gcG p.A553A SKCM 2 203974916 203974916 + Missense_Mutation SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr2:203974916C>G c.1906C>G c.(1906-1908)Cat>Gat p.H636D SKCM 2 203976774 203976774 + Nonsense_Mutation SNP G G T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr2:203976774G>T c.2068G>T c.(2068-2070)Gga>Tga p.G690* SKCM 2 203977874 203977874 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr2:203977874C>T c.2252C>T c.(2251-2253)tCc>tTc p.S751F SKCM 2 203980710 203980710 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr2:203980710C>T c.2422C>T c.(2422-2424)Cca>Tca p.P808S SKCM 2 203980784 203980784 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr2:203980784C>T c.2496C>T c.(2494-2496)taC>taT p.Y832Y SKCM 2 203991366 203991366 + Silent SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr2:203991366C>T c.2985C>T c.(2983-2985)ctC>ctT p.L995L SKCM 2 203991546 203991546 + Splice_Site SNP G G T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr2:203991546G>T c.e22-1 SKCM 2 203995055 203995055 + Missense_Mutation SNP G G T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr2:203995055G>T c.3333G>T c.(3331-3333)ttG>ttT p.L1111F SKCM 2 204000556 204000556 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr2:204000556G>A c.3883G>A c.(3883-3885)Gat>Aat p.D1295N SKCM 2 204002981 204002981 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:204002981C>T c.4575C>T c.(4573-4575)atC>atT p.I1525I SKCM 2 204022527 204022527 + Missense_Mutation SNP A A G TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 g.chr2:204022527A>G c.5606A>G c.(5605-5607)gAt>gGt p.D1869G SKCM 2 204030954 204030954 + Missense_Mutation SNP C C T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 g.chr2:204030954C>T c.5710C>T c.(5710-5712)Cct>Tct p.P1904S SKCM 2 204031988 204031988 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr2:204031988C>T c.5815C>T c.(5815-5817)Cga>Tga p.R1939* SKCM 2 204034557 204034557 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr2:204034557G>A c.5998G>A c.(5998-6000)Gca>Aca p.A2000T SKCM 2 204045122 204045122 + Missense_Mutation SNP G G T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 g.chr2:204045122G>T c.6395G>T c.(6394-6396)cGa>cTa p.R2132L SKCM 2 204045169 204045169 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr2:204045169C>T c.6442C>T c.(6442-6444)Cca>Tca p.P2148S SKCM 2 204058526 204058526 + Silent SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr2:204058526C>T c.6843C>T c.(6841-6843)caC>caT p.H2281H SKCM 2 204062079 204062079 + Missense_Mutation SNP C C T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr2:204062079C>T c.7006C>T c.(7006-7008)Cgt>Tgt p.R2336C SKCM 2 204062079 204062079 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 g.chr2:204062079C>T c.7006C>T c.(7006-7008)Cgt>Tgt p.R2336C SKCM 2 204066384 204066384 + Missense_Mutation SNP C C A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr2:204066384C>A c.7270C>A c.(7270-7272)Caa>Aaa p.Q2424K SKCM 2 204073420 204073420 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr2:204073420G>A c.7480G>A c.(7480-7482)Gag>Aag p.E2494K SKCM 2 204073989 204073989 + Frame_Shift_Del DEL T T - TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr2:204073989delT c.7642delT c.(7642-7644)tctfs p.S2548fs SKCM 2 204075774 204075774 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 g.chr2:204075774G>A c.7792G>A c.(7792-7794)Gaa>Aaa p.E2598K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 2 203949272 203949272 single base substitution C T exon_variant ALL-US 2 203949272 203949272 single base substitution C T stop_gained R360* 1078C>T BLCA-US 2 204002904 204002904 single base substitution G C missense_variant E1500Q 4498G>C BLCA-US 2 204016211 204016211 single base substitution A T missense_variant K1800M 5399A>T BLCA-US 2 204055050 204055050 single base substitution G C exon_variant BLCA-US 2 204055050 204055050 single base substitution G C missense_variant E2258Q 6772G>C BLCA-US 2 204055050 204055050 single base substitution G C missense_variant E273Q 817G>C BLCA-US 2 204058632 204058632 single base substitution G C downstream_gene_variant BLCA-US 2 204058632 204058632 single base substitution G C missense_variant E2317Q 6949G>C BLCA-US 2 204058632 204058632 single base substitution G C missense_variant E332Q 994G>C BLCA-US 2 204078256 204078256 single base substitution C G missense_variant I148M 444C>G BLCA-US 2 204078256 204078256 single base substitution C G missense_variant I2621M 7863C>G BLCA-US 2 204078256 204078256 single base substitution C G missense_variant I636M 1908C>G BLCA-US 2 204078320 204078320 single base substitution C G missense_variant L170V 508C>G BLCA-US 2 204078320 204078320 single base substitution C G missense_variant L2643V 7927C>G BLCA-US 2 204078320 204078320 single base substitution C G missense_variant L658V 1972C>G BOCA-FR 2 203882566 203882566 single base substitution C T intron_variant BOCA-FR 2 204047842 204047842 single base substitution G A exon_variant BOCA-FR 2 204047842 204047842 single base substitution G A intron_variant BOCA-FR 2 204067194 204067194 single base substitution A T intron_variant BRCA-EU 2 203874741 203874741 single base substitution C T upstream_gene_variant BRCA-EU 2 203876919 203876919 single base substitution C G upstream_gene_variant BRCA-EU 2 203877161 203877161 single base substitution G C upstream_gene_variant BRCA-EU 2 203877452 203877452 single base substitution C T upstream_gene_variant BRCA-EU 2 203877713 203877713 single base substitution T G upstream_gene_variant BRCA-EU 2 203878381 203878381 single base substitution A C upstream_gene_variant BRCA-EU 2 203879386 203879386 single base substitution C G upstream_gene_variant BRCA-EU 2 203881585 203881585 single base substitution C T intron_variant BRCA-EU 2 203884353 203884353 single base substitution G C intron_variant BRCA-EU 2 203886316 203886316 single base substitution T A intron_variant BRCA-EU 2 203888722 203888722 single base substitution G C intron_variant BRCA-EU 2 203890587 203890587 single base substitution G C intron_variant BRCA-EU 2 203890802 203890802 single base substitution C T intron_variant BRCA-EU 2 203891099 203891099 single base substitution T C intron_variant BRCA-EU 2 203892781 203892781 single base substitution A G intron_variant BRCA-EU 2 203893146 203893146 single base substitution G C intron_variant BRCA-EU 2 203894144 203894144 single base substitution C G intron_variant BRCA-EU 2 203896555 203896555 single base substitution G C intron_variant BRCA-EU 2 203897149 203897149 single base substitution G T intron_variant BRCA-EU 2 203897200 203897200 single base substitution G A intron_variant BRCA-EU 2 203898122 203898122 single base substitution G T intron_variant BRCA-EU 2 203898352 203898352 single base substitution G A intron_variant BRCA-EU 2 203898506 203898506 single base substitution C T intron_variant BRCA-EU 2 203899761 203899761 single base substitution A T intron_variant BRCA-EU 2 203900651 203900651 single base substitution G C intron_variant BRCA-EU 2 203901434 203901434 deletion of <=200bp T - intron_variant BRCA-EU 2 203901771 203901771 single base substitution C A intron_variant BRCA-EU 2 203906511 203906511 single base substitution G T exon_variant BRCA-EU 2 203906511 203906511 single base substitution G T synonymous_variant L25L 75G>T BRCA-EU 2 203906820 203906820 single base substitution C T downstream_gene_variant BRCA-EU 2 203906820 203906820 single base substitution C T intron_variant BRCA-EU 2 203907912 203907912 single base substitution G C downstream_gene_variant BRCA-EU 2 203907912 203907912 single base substitution G C intron_variant BRCA-EU 2 203909273 203909273 single base substitution A G downstream_gene_variant BRCA-EU 2 203909273 203909273 single base substitution A G intron_variant BRCA-EU 2 203909369 203909369 single base substitution C T downstream_gene_variant BRCA-EU 2 203909369 203909369 single base substitution C T intron_variant BRCA-EU 2 203909781 203909781 deletion of <=200bp C - downstream_gene_variant BRCA-EU 2 203909781 203909781 deletion of <=200bp C - intron_variant BRCA-EU 2 203909804 203909804 single base substitution C T downstream_gene_variant BRCA-EU 2 203909804 203909804 single base substitution C T intron_variant BRCA-EU 2 203909843 203909843 single base substitution G A downstream_gene_variant BRCA-EU 2 203909843 203909843 single base substitution G A intron_variant BRCA-EU 2 203910019 203910019 insertion of <=200bp - T downstream_gene_variant BRCA-EU 2 203910019 203910019 insertion of <=200bp - T intron_variant BRCA-EU 2 203911055 203911055 single base substitution C T downstream_gene_variant BRCA-EU 2 203911055 203911055 single base substitution C T intron_variant BRCA-EU 2 203911588 203911588 single base substitution C T intron_variant BRCA-EU 2 203911791 203911791 single base substitution G A intron_variant BRCA-EU 2 203911812 203911812 single base substitution T A intron_variant BRCA-EU 2 203912552 203912552 single base substitution G A intron_variant BRCA-EU 2 203912692 203912692 single base substitution T G intron_variant BRCA-EU 2 203913868 203913868 single base substitution G A intron_variant BRCA-EU 2 203916768 203916768 single base substitution C T downstream_gene_variant BRCA-EU 2 203916768 203916768 single base substitution C T intron_variant BRCA-EU 2 203917132 203917132 single base substitution G C downstream_gene_variant BRCA-EU 2 203917132 203917132 single base substitution G C intron_variant BRCA-EU 2 203918136 203918136 single base substitution A T downstream_gene_variant BRCA-EU 2 203918136 203918136 single base substitution A T intron_variant BRCA-EU 2 203918231 203918231 single base substitution T C downstream_gene_variant BRCA-EU 2 203918231 203918231 single base substitution T C intron_variant BRCA-EU 2 203921932 203921932 single base substitution A G intron_variant BRCA-EU 2 203922083 203922083 single base substitution A C exon_variant BRCA-EU 2 203922083 203922083 single base substitution A C missense_variant D141A 422A>C BRCA-EU 2 203922845 203922845 single base substitution G A intron_variant BRCA-EU 2 203923722 203923722 single base substitution C A intron_variant BRCA-EU 2 203923891 203923891 single base substitution A T intron_variant BRCA-EU 2 203924063 203924063 single base substitution T C intron_variant BRCA-EU 2 203927086 203927086 single base substitution G A exon_variant BRCA-EU 2 203927086 203927086 single base substitution G A intron_variant BRCA-EU 2 203928298 203928298 single base substitution G C downstream_gene_variant BRCA-EU 2 203928298 203928298 single base substitution G C intron_variant BRCA-EU 2 203929977 203929977 single base substitution G C downstream_gene_variant BRCA-EU 2 203929977 203929977 single base substitution G C intron_variant BRCA-EU 2 203932534 203932534 single base substitution C G intron_variant BRCA-EU 2 203933191 203933191 single base substitution C G exon_variant BRCA-EU 2 203933191 203933191 single base substitution C G missense_variant F197L 591C>G BRCA-EU 2 203939985 203939985 single base substitution C T intron_variant BRCA-EU 2 203940166 203940166 single base substitution G A intron_variant BRCA-EU 2 203940482 203940482 single base substitution C T intron_variant BRCA-EU 2 203940571 203940571 single base substitution C G intron_variant BRCA-EU 2 203941417 203941417 single base substitution A T intron_variant BRCA-EU 2 203942012 203942012 single base substitution G C intron_variant BRCA-EU 2 203942867 203942867 single base substitution C G intron_variant BRCA-EU 2 203942909 203942909 single base substitution G A intron_variant BRCA-EU 2 203942968 203942968 deletion of <=200bp T - intron_variant BRCA-EU 2 203942968 203942968 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 203943697 203943697 single base substitution G A intron_variant BRCA-EU 2 203943697 203943697 single base substitution G A upstream_gene_variant BRCA-EU 2 203945135 203945135 deletion of <=200bp A - intron_variant BRCA-EU 2 203945135 203945135 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 203947906 203947906 single base substitution G A intron_variant BRCA-EU 2 203947906 203947906 single base substitution G A upstream_gene_variant BRCA-EU 2 203948263 203948263 single base substitution A G intron_variant BRCA-EU 2 203948759 203948759 single base substitution C G intron_variant BRCA-EU 2 203949831 203949831 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 203949831 203949831 deletion of <=200bp T - intron_variant BRCA-EU 2 203949936 203949936 single base substitution C T downstream_gene_variant BRCA-EU 2 203949936 203949936 single base substitution C T intron_variant BRCA-EU 2 203950761 203950761 single base substitution T C downstream_gene_variant BRCA-EU 2 203950761 203950761 single base substitution T C exon_variant BRCA-EU 2 203950761 203950761 single base substitution T C intron_variant BRCA-EU 2 203952711 203952711 single base substitution G C downstream_gene_variant BRCA-EU 2 203952711 203952711 single base substitution G C intron_variant BRCA-EU 2 203954916 203954916 single base substitution C T downstream_gene_variant BRCA-EU 2 203954916 203954916 single base substitution C T intron_variant BRCA-EU 2 203955075 203955075 single base substitution T C downstream_gene_variant BRCA-EU 2 203955075 203955075 single base substitution T C intron_variant BRCA-EU 2 203955443 203955443 single base substitution C T downstream_gene_variant BRCA-EU 2 203955443 203955443 single base substitution C T intron_variant BRCA-EU 2 203955448 203955448 single base substitution A G downstream_gene_variant BRCA-EU 2 203955448 203955448 single base substitution A G intron_variant BRCA-EU 2 203955748 203955748 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 203955748 203955748 deletion of <=200bp T - intron_variant BRCA-EU 2 203956065 203956065 single base substitution T G intron_variant BRCA-EU 2 203957379 203957379 single base substitution C A intron_variant BRCA-EU 2 203958872 203958872 single base substitution C T intron_variant BRCA-EU 2 203960931 203960931 single base substitution C T intron_variant BRCA-EU 2 203961176 203961176 single base substitution A G intron_variant BRCA-EU 2 203962549 203962549 single base substitution G C downstream_gene_variant BRCA-EU 2 203962549 203962549 single base substitution G C intron_variant BRCA-EU 2 203962945 203962945 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 203962945 203962945 deletion of <=200bp A - intron_variant BRCA-EU 2 203964798 203964798 single base substitution G C downstream_gene_variant BRCA-EU 2 203964798 203964798 single base substitution G C intron_variant BRCA-EU 2 203965176 203965176 single base substitution A C downstream_gene_variant BRCA-EU 2 203965176 203965176 single base substitution A C intron_variant BRCA-EU 2 203965746 203965746 single base substitution G C downstream_gene_variant BRCA-EU 2 203965746 203965746 single base substitution G C intron_variant BRCA-EU 2 203966703 203966703 single base substitution T A downstream_gene_variant BRCA-EU 2 203966703 203966703 single base substitution T A intron_variant BRCA-EU 2 203968398 203968398 single base substitution C A intron_variant BRCA-EU 2 203968587 203968587 single base substitution G C intron_variant BRCA-EU 2 203969143 203969143 single base substitution G C intron_variant BRCA-EU 2 203970378 203970378 single base substitution A G intron_variant BRCA-EU 2 203971322 203971322 deletion of <=200bp T - intron_variant BRCA-EU 2 203972468 203972468 single base substitution T C synonymous_variant I473I 1419T>C BRCA-EU 2 203972504 203972504 single base substitution C T synonymous_variant V485V 1455C>T BRCA-EU 2 203972517 203972517 single base substitution G T missense_variant G490W 1468G>T BRCA-EU 2 203974311 203974311 single base substitution C T intron_variant BRCA-EU 2 203974842 203974842 single base substitution T G intron_variant BRCA-EU 2 203976457 203976457 single base substitution G T intron_variant BRCA-EU 2 203976704 203976704 single base substitution C G missense_variant H666Q 1998C>G BRCA-EU 2 203977865 203977865 single base substitution C T missense_variant S748L 2243C>T BRCA-EU 2 203978342 203978342 single base substitution C A intron_variant BRCA-EU 2 203979724 203979724 single base substitution C G intron_variant BRCA-EU 2 203980285 203980285 single base substitution G A intron_variant BRCA-EU 2 203981178 203981178 single base substitution G A intron_variant BRCA-EU 2 203981183 203981183 deletion of <=200bp G - intron_variant BRCA-EU 2 203982007 203982007 single base substitution G A intron_variant BRCA-EU 2 203982776 203982776 single base substitution C T intron_variant BRCA-EU 2 203983568 203983568 single base substitution T C intron_variant BRCA-EU 2 203983573 203983573 single base substitution C T intron_variant BRCA-EU 2 203984293 203984293 single base substitution C T intron_variant BRCA-EU 2 203984684 203984684 single base substitution C G intron_variant BRCA-EU 2 203987180 203987180 single base substitution G C intron_variant BRCA-EU 2 203988546 203988546 insertion of <=200bp - A intron_variant BRCA-EU 2 203988557 203988557 single base substitution G C intron_variant BRCA-EU 2 203990262 203990262 single base substitution C T intron_variant BRCA-EU 2 203990383 203990383 single base substitution C G intron_variant BRCA-EU 2 203990500 203990500 single base substitution G A intron_variant BRCA-EU 2 203992126 203992126 single base substitution G A intron_variant BRCA-EU 2 203994787 203994787 single base substitution G C intron_variant BRCA-EU 2 203996167 203996167 single base substitution G A intron_variant BRCA-EU 2 203996760 203996760 single base substitution G C missense_variant R1181T 3542G>C BRCA-EU 2 203997980 203997980 single base substitution C T intron_variant BRCA-EU 2 203998823 203998823 single base substitution C T intron_variant BRCA-EU 2 204000666 204000666 single base substitution G A synonymous_variant L1331L 3993G>A BRCA-EU 2 204000760 204000760 single base substitution T C missense_variant F1363L 4087T>C BRCA-EU 2 204000831 204000831 single base substitution T A missense_variant S1386R 4158T>A BRCA-EU 2 204001525 204001525 single base substitution C T intron_variant BRCA-EU 2 204003191 204003191 single base substitution T C intron_variant BRCA-EU 2 204003258 204003258 single base substitution T C intron_variant BRCA-EU 2 204003497 204003497 insertion of <=200bp - A intron_variant BRCA-EU 2 204004233 204004233 single base substitution A G intron_variant BRCA-EU 2 204005409 204005409 deletion of <=200bp T - intron_variant BRCA-EU 2 204008177 204008177 insertion of <=200bp - T intron_variant BRCA-EU 2 204008382 204008383 deletion of <=200bp AG - intron_variant BRCA-EU 2 204011937 204011937 insertion of <=200bp - A intron_variant BRCA-EU 2 204013271 204013271 single base substitution A C intron_variant BRCA-EU 2 204013746 204013746 single base substitution A G synonymous_variant A1750A 5250A>G BRCA-EU 2 204014259 204014259 deletion of <=200bp T - intron_variant BRCA-EU 2 204014963 204014963 single base substitution A T intron_variant BRCA-EU 2 204015063 204015063 single base substitution C T intron_variant BRCA-EU 2 204015081 204015081 single base substitution G A intron_variant BRCA-EU 2 204016939 204016939 single base substitution C T intron_variant BRCA-EU 2 204017646 204017646 single base substitution A T intron_variant BRCA-EU 2 204022247 204022247 single base substitution G A intron_variant BRCA-EU 2 204022619 204022619 single base substitution G A intron_variant BRCA-EU 2 204024038 204024038 single base substitution C G intron_variant BRCA-EU 2 204025999 204025999 single base substitution G A intron_variant BRCA-EU 2 204026173 204026173 single base substitution G A intron_variant BRCA-EU 2 204026301 204026301 single base substitution G A intron_variant BRCA-EU 2 204026337 204026337 single base substitution G A intron_variant BRCA-EU 2 204027435 204027435 single base substitution C G intron_variant BRCA-EU 2 204027435 204027435 single base substitution C G upstream_gene_variant BRCA-EU 2 204027519 204027519 single base substitution C G intron_variant BRCA-EU 2 204027519 204027519 single base substitution C G upstream_gene_variant BRCA-EU 2 204028260 204028260 single base substitution C T intron_variant BRCA-EU 2 204028260 204028260 single base substitution C T upstream_gene_variant BRCA-EU 2 204028715 204028715 single base substitution C G intron_variant BRCA-EU 2 204028715 204028715 single base substitution C G upstream_gene_variant BRCA-EU 2 204029506 204029506 single base substitution T A intron_variant BRCA-EU 2 204029506 204029506 single base substitution T A upstream_gene_variant BRCA-EU 2 204029608 204029608 single base substitution G A intron_variant BRCA-EU 2 204029608 204029608 single base substitution G A upstream_gene_variant BRCA-EU 2 204030978 204030978 single base substitution C G missense_variant Q1912E 5734C>G BRCA-EU 2 204030978 204030978 single base substitution C G upstream_gene_variant BRCA-EU 2 204031529 204031529 single base substitution C T intron_variant BRCA-EU 2 204031529 204031529 single base substitution C T upstream_gene_variant BRCA-EU 2 204032006 204032006 single base substitution C T missense_variant R1945C 5833C>T BRCA-EU 2 204032006 204032006 single base substitution C T upstream_gene_variant BRCA-EU 2 204033806 204033806 single base substitution T A intron_variant BRCA-EU 2 204035176 204035176 single base substitution G C intron_variant BRCA-EU 2 204036356 204036356 single base substitution T A intron_variant BRCA-EU 2 204040562 204040562 single base substitution C T intron_variant BRCA-EU 2 204041673 204041673 single base substitution G C intron_variant BRCA-EU 2 204041673 204041673 single base substitution G C upstream_gene_variant BRCA-EU 2 204042508 204042508 single base substitution G T intron_variant BRCA-EU 2 204042508 204042508 single base substitution G T upstream_gene_variant BRCA-EU 2 204043560 204043560 single base substitution G C intron_variant BRCA-EU 2 204043560 204043560 single base substitution G C upstream_gene_variant BRCA-EU 2 204045514 204045514 single base substitution T C intron_variant BRCA-EU 2 204045514 204045514 single base substitution T C upstream_gene_variant BRCA-EU 2 204045745 204045745 single base substitution G C exon_variant BRCA-EU 2 204045745 204045745 single base substitution G C intron_variant BRCA-EU 2 204045776 204045776 single base substitution C T exon_variant BRCA-EU 2 204045776 204045776 single base substitution C T intron_variant BRCA-EU 2 204049962 204049962 single base substitution C G intron_variant BRCA-EU 2 204050162 204050162 single base substitution G C intron_variant BRCA-EU 2 204050300 204050300 single base substitution G T intron_variant BRCA-EU 2 204050485 204050485 single base substitution C T intron_variant BRCA-EU 2 204051129 204051129 single base substitution G C intron_variant BRCA-EU 2 204051611 204051611 single base substitution G C intron_variant BRCA-EU 2 204052060 204052060 single base substitution C T intron_variant BRCA-EU 2 204052315 204052315 single base substitution T G intron_variant BRCA-EU 2 204054751 204054751 single base substitution C T intron_variant BRCA-EU 2 204056263 204056263 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 204056263 204056263 deletion of <=200bp A - intron_variant BRCA-EU 2 204058456 204058456 single base substitution G A downstream_gene_variant BRCA-EU 2 204058456 204058456 single base substitution G A intron_variant BRCA-EU 2 204060481 204060481 insertion of <=200bp - T downstream_gene_variant BRCA-EU 2 204060481 204060481 insertion of <=200bp - T intron_variant BRCA-EU 2 204062379 204062379 single base substitution C A intron_variant BRCA-EU 2 204062486 204062486 single base substitution G A intron_variant BRCA-EU 2 204063833 204063833 single base substitution C G intron_variant BRCA-EU 2 204064269 204064269 single base substitution T A intron_variant BRCA-EU 2 204064340 204064340 single base substitution C G intron_variant BRCA-EU 2 204068167 204068167 single base substitution G C intron_variant BRCA-EU 2 204068969 204068969 single base substitution A T intron_variant BRCA-EU 2 204068969 204068969 single base substitution A T upstream_gene_variant BRCA-EU 2 204069193 204069193 single base substitution C G intron_variant BRCA-EU 2 204069193 204069193 single base substitution C G upstream_gene_variant BRCA-EU 2 204069218 204069218 single base substitution T A intron_variant BRCA-EU 2 204069218 204069218 single base substitution T A upstream_gene_variant BRCA-EU 2 204069220 204069220 single base substitution G T intron_variant BRCA-EU 2 204069220 204069220 single base substitution G T upstream_gene_variant BRCA-EU 2 204069477 204069477 single base substitution T C intron_variant BRCA-EU 2 204069477 204069477 single base substitution T C upstream_gene_variant BRCA-EU 2 204069723 204069723 single base substitution C T intron_variant BRCA-EU 2 204069723 204069723 single base substitution C T upstream_gene_variant BRCA-EU 2 204070063 204070063 single base substitution C T intron_variant BRCA-EU 2 204070063 204070063 single base substitution C T upstream_gene_variant BRCA-EU 2 204075318 204075318 single base substitution C G intron_variant BRCA-EU 2 204078142 204078142 single base substitution C T intron_variant BRCA-EU 2 204079183 204079183 insertion of <=200bp - A intron_variant BRCA-EU 2 204079329 204079329 single base substitution C G intron_variant BRCA-EU 2 204080068 204080068 insertion of <=200bp - A intron_variant BRCA-EU 2 204080518 204080518 single base substitution G C intron_variant BRCA-EU 2 204080633 204080633 single base substitution C G intron_variant BRCA-EU 2 204082442 204082442 single base substitution T G 3_prime_UTR_variant BRCA-EU 2 204082442 204082442 single base substitution T G downstream_gene_variant BRCA-EU 2 204082442 204082442 single base substitution T G intron_variant BRCA-EU 2 204084491 204084491 single base substitution G C 3_prime_UTR_variant BRCA-EU 2 204084491 204084491 single base substitution G C downstream_gene_variant BRCA-EU 2 204084491 204084491 single base substitution G C intron_variant BRCA-EU 2 204087719 204087719 single base substitution T C downstream_gene_variant BRCA-EU 2 204087719 204087719 single base substitution T C intron_variant BRCA-EU 2 204088438 204088438 single base substitution T C downstream_gene_variant BRCA-EU 2 204088438 204088438 single base substitution T C intron_variant BRCA-EU 2 204089949 204089949 single base substitution G C intron_variant BRCA-EU 2 204090113 204090113 single base substitution A T intron_variant BRCA-EU 2 204091237 204091238 deletion of <=200bp AT - downstream_gene_variant BRCA-EU 2 204091675 204091675 single base substitution A G downstream_gene_variant BRCA-EU 2 204093021 204093021 single base substitution C T downstream_gene_variant BRCA-EU 2 204095028 204095028 single base substitution C G downstream_gene_variant BRCA-EU 2 204095528 204095528 single base substitution C A downstream_gene_variant BRCA-EU 2 204095766 204095766 single base substitution C T downstream_gene_variant BRCA-FR 2 203876919 203876919 single base substitution C G upstream_gene_variant BRCA-FR 2 203877161 203877161 single base substitution G C upstream_gene_variant BRCA-FR 2 203877452 203877452 single base substitution C T upstream_gene_variant BRCA-FR 2 203886804 203886804 single base substitution G C intron_variant BRCA-FR 2 203887968 203887968 single base substitution G C intron_variant BRCA-FR 2 203890802 203890802 single base substitution C T intron_variant BRCA-FR 2 203900651 203900651 single base substitution G C intron_variant BRCA-FR 2 203911588 203911588 single base substitution C T intron_variant BRCA-FR 2 203912692 203912692 single base substitution T G intron_variant BRCA-FR 2 203920340 203920340 single base substitution C A intron_variant BRCA-FR 2 203928844 203928844 single base substitution T A downstream_gene_variant BRCA-FR 2 203928844 203928844 single base substitution T A intron_variant BRCA-FR 2 203930303 203930303 single base substitution G A downstream_gene_variant BRCA-FR 2 203930303 203930303 single base substitution G A intron_variant BRCA-FR 2 203932534 203932534 single base substitution C G intron_variant BRCA-FR 2 203939825 203939825 single base substitution G A intron_variant BRCA-FR 2 203940166 203940166 single base substitution G A intron_variant BRCA-FR 2 203942909 203942909 single base substitution G A intron_variant BRCA-FR 2 203943697 203943697 single base substitution G A intron_variant BRCA-FR 2 203943697 203943697 single base substitution G A upstream_gene_variant BRCA-FR 2 203947562 203947562 single base substitution C G intron_variant BRCA-FR 2 203947562 203947562 single base substitution C G upstream_gene_variant BRCA-FR 2 203955075 203955075 single base substitution T C downstream_gene_variant BRCA-FR 2 203955075 203955075 single base substitution T C intron_variant BRCA-FR 2 203958872 203958872 single base substitution C T intron_variant BRCA-FR 2 203965746 203965746 single base substitution G C downstream_gene_variant BRCA-FR 2 203965746 203965746 single base substitution G C intron_variant BRCA-FR 2 203977865 203977865 single base substitution C T missense_variant S748L 2243C>T BRCA-FR 2 203992126 203992126 single base substitution G A intron_variant BRCA-FR 2 204000369 204000369 single base substitution G A intron_variant BRCA-FR 2 204001525 204001525 single base substitution C T intron_variant BRCA-FR 2 204027519 204027519 single base substitution C G intron_variant BRCA-FR 2 204027519 204027519 single base substitution C G upstream_gene_variant BRCA-FR 2 204034566 204034566 single base substitution T A missense_variant L2003M 6007T>A BRCA-FR 2 204034566 204034566 single base substitution T A missense_variant L50M 148T>A BRCA-FR 2 204049962 204049962 single base substitution C G intron_variant BRCA-FR 2 204050162 204050162 single base substitution G C intron_variant BRCA-FR 2 204054751 204054751 single base substitution C T intron_variant BRCA-FR 2 204055829 204055829 single base substitution C T exon_variant BRCA-FR 2 204055829 204055829 single base substitution C T intron_variant BRCA-FR 2 204064340 204064340 single base substitution C G intron_variant BRCA-FR 2 204095528 204095528 single base substitution C A downstream_gene_variant BRCA-UK 2 203887756 203887756 single base substitution G A intron_variant BRCA-UK 2 203914675 203914675 single base substitution C T exon_variant BRCA-UK 2 203914675 203914675 single base substitution C T synonymous_variant V94V 282C>T BRCA-UK 2 203928298 203928298 single base substitution G C downstream_gene_variant BRCA-UK 2 203928298 203928298 single base substitution G C intron_variant BRCA-UK 2 203947906 203947906 single base substitution G A intron_variant BRCA-UK 2 203947906 203947906 single base substitution G A upstream_gene_variant BRCA-UK 2 203968336 203968336 single base substitution C T intron_variant BRCA-UK 2 203990720 203990720 single base substitution C G missense_variant I934M 2802C>G BRCA-UK 2 204019577 204019577 single base substitution G A intron_variant BRCA-UK 2 204045213 204045214 deletion of <=200bp AG - frameshift_variant PE177 BRCA-UK 2 204045213 204045214 deletion of <=200bp AG - frameshift_variant PE2162 BRCA-UK 2 204045213 204045214 deletion of <=200bp AG - upstream_gene_variant BRCA-UK 2 204076974 204076974 single base substitution G A intron_variant BRCA-UK 2 204080014 204080014 single base substitution G C intron_variant BRCA-US 2 203962315 203962315 single base substitution G C exon_variant BRCA-US 2 203962315 203962315 single base substitution G C intron_variant BRCA-US 2 203980744 203980744 single base substitution C G missense_variant S819C 2456C>G BRCA-US 2 203990152 203990152 single base substitution G C missense_variant Q891H 2673G>C BRCA-US 2 203992635 203992635 single base substitution T C missense_variant I1098T 3293T>C BRCA-US 2 203995183 203995183 single base substitution G C missense_variant R1154T 3461G>C BRCA-US 2 204001448 204001448 single base substitution C A missense_variant P1477T 4429C>A BRCA-US 2 204001452 204001452 single base substitution G T missense_variant G1478V 4433G>T BRCA-US 2 204002928 204002928 single base substitution G T stop_gained E1508* 4522G>T BRCA-US 2 204009439 204009439 single base substitution C G missense_variant I1626M 4878C>G BRCA-US 2 204009564 204009564 single base substitution C T missense_variant S1668L 5003C>T BRCA-US 2 204016194 204016194 single base substitution G A synonymous_variant Q1794Q 5382G>A BRCA-US 2 204016301 204016301 single base substitution G C missense_variant R1830T 5489G>C BRCA-US 2 204022515 204022515 single base substitution T A missense_variant L1865H 5594T>A BRCA-US 2 204030948 204030948 single base substitution G T missense_variant V1902L 5704G>T BRCA-US 2 204030948 204030948 single base substitution G T upstream_gene_variant BRCA-US 2 204031988 204031988 single base substitution C T stop_gained R1939* 5815C>T BRCA-US 2 204031988 204031988 single base substitution C T upstream_gene_variant BRCA-US 2 204037478 204037478 single base substitution T G synonymous_variant T2046T 6138T>G BRCA-US 2 204037478 204037478 single base substitution T G synonymous_variant T61T 183T>G BRCA-US 2 204045211 204045211 single base substitution C G missense_variant P177A 529C>G BRCA-US 2 204045211 204045211 single base substitution C G missense_variant P2162A 6484C>G BRCA-US 2 204045211 204045211 single base substitution C G upstream_gene_variant BRCA-US 2 204058611 204058611 single base substitution G T downstream_gene_variant BRCA-US 2 204058611 204058611 single base substitution G T stop_gained E2310* 6928G>T BRCA-US 2 204058611 204058611 single base substitution G T stop_gained E325* 973G>T BTCA-JP 2 203881054 203881054 single base substitution G A 5_prime_UTR_variant BTCA-JP 2 203881054 203881054 single base substitution G A exon_variant BTCA-JP 2 203881054 203881054 single base substitution G A upstream_gene_variant BTCA-JP 2 203914514 203914514 single base substitution A T intron_variant BTCA-JP 2 203922058 203922058 deletion of <=200bp A - exon_variant BTCA-JP 2 203922058 203922058 deletion of <=200bp A - frameshift_variant K133 BTCA-JP 2 203972697 203972697 single base substitution G A missense_variant V550M 1648G>A BTCA-JP 2 203974873 203974873 insertion of <=200bp - T frameshift_variant S621S? BTCA-JP 2 203980774 203980774 single base substitution T G missense_variant L829R 2486T>G BTCA-JP 2 204001498 204001498 single base substitution G T splice_donor_variant BTCA-JP 2 204009820 204009820 single base substitution A G synonymous_variant E1718E 5154A>G BTCA-JP 2 204037413 204037413 single base substitution A G intron_variant BTCA-JP 2 204037440 204037440 single base substitution T C intron_variant BTCA-JP 2 204037660 204037660 single base substitution T A intron_variant BTCA-JP 2 204054999 204055001 deletion of <=200bp CTT - intron_variant BTCA-JP 2 204055026 204055026 single base substitution C T exon_variant BTCA-JP 2 204055026 204055026 single base substitution C T synonymous_variant L2250L 6748C>T BTCA-JP 2 204055026 204055026 single base substitution C T synonymous_variant L265L 793C>T BTCA-JP 2 204082002 204082002 single base substitution A G synonymous_variant K197K 591A>G BTCA-JP 2 204082002 204082002 single base substitution A G synonymous_variant K2670K 8010A>G BTCA-JP 2 204082002 204082002 single base substitution A G synonymous_variant K685K 2055A>G BTCA-JP 2 204090809 204090809 single base substitution C G intron_variant CESC-US 2 203922058 203922058 deletion of <=200bp A - exon_variant CESC-US 2 203922058 203922058 deletion of <=200bp A - frameshift_variant K133 CESC-US 2 203948108 203948108 single base substitution C G exon_variant CESC-US 2 203948108 203948108 single base substitution C G missense_variant S284C 851C>G CESC-US 2 203948108 203948108 single base substitution C G upstream_gene_variant CESC-US 2 203948174 203948174 single base substitution A T exon_variant CESC-US 2 203948174 203948174 single base substitution A T missense_variant H306L 917A>T CESC-US 2 203948174 203948174 single base substitution A T upstream_gene_variant CESC-US 2 203948177 203948177 single base substitution C T exon_variant CESC-US 2 203948177 203948177 single base substitution C T missense_variant S307L 920C>T CESC-US 2 203948177 203948177 single base substitution C T upstream_gene_variant CESC-US 2 203948191 203948191 single base substitution C T exon_variant CESC-US 2 203948191 203948191 single base substitution C T stop_gained Q312* 934C>T CESC-US 2 203948191 203948191 single base substitution C T upstream_gene_variant CESC-US 2 203972541 203972541 single base substitution G C missense_variant D498H 1492G>C CESC-US 2 204000415 204000415 single base substitution C T stop_gained Q1248* 3742C>T CESC-US 2 204000956 204000956 single base substitution C G missense_variant S1428C 4283C>G CESC-US 2 204013810 204013810 single base substitution C G missense_variant L1772V 5314C>G CESC-US 2 204016230 204016230 single base substitution T G missense_variant N1806K 5418T>G CESC-US 2 204048102 204048102 single base substitution G C exon_variant CESC-US 2 204048102 204048102 single base substitution G C missense_variant R218S 654G>C CESC-US 2 204048102 204048102 single base substitution G C missense_variant R2203S 6609G>C CESC-US 2 204073911 204073911 single base substitution C T stop_gained Q2522* 7564C>T CESC-US 2 204073911 204073911 single base substitution C T stop_gained Q49* 145C>T CESC-US 2 204073911 204073911 single base substitution C T stop_gained Q537* 1609C>T CESC-US 2 204074025 204074025 single base substitution G A missense_variant E2560K 7678G>A CESC-US 2 204074025 204074025 single base substitution G A missense_variant E575K 1723G>A CESC-US 2 204074025 204074025 single base substitution G A missense_variant E87K 259G>A CESC-US 2 204075737 204075737 single base substitution C G missense_variant I112M 336C>G CESC-US 2 204075737 204075737 single base substitution C G missense_variant I2585M 7755C>G CESC-US 2 204075737 204075737 single base substitution C G missense_variant I600M 1800C>G CESC-US 2 204075772 204075772 single base substitution G C missense_variant G124A 371G>C CESC-US 2 204075772 204075772 single base substitution G C missense_variant G2597A 7790G>C CESC-US 2 204075772 204075772 single base substitution G C missense_variant G612A 1835G>C CLLE-ES 2 203897413 203897414 deletion of <=200bp AG - intron_variant CLLE-ES 2 203903704 203903704 single base substitution C T intron_variant CLLE-ES 2 203907560 203907560 single base substitution C T downstream_gene_variant CLLE-ES 2 203907560 203907560 single base substitution C T intron_variant CLLE-ES 2 203909058 203909058 single base substitution T C downstream_gene_variant CLLE-ES 2 203909058 203909058 single base substitution T C intron_variant CLLE-ES 2 203948615 203948615 single base substitution C T intron_variant CLLE-ES 2 203951468 203951468 single base substitution G C downstream_gene_variant CLLE-ES 2 203951468 203951468 single base substitution G C intron_variant CLLE-ES 2 203954344 203954344 single base substitution G T downstream_gene_variant CLLE-ES 2 203954344 203954344 single base substitution G T intron_variant CLLE-ES 2 203956124 203956124 single base substitution G T intron_variant CLLE-ES 2 203961664 203961664 single base substitution T C intron_variant CLLE-ES 2 203973544 203973544 single base substitution T G intron_variant CLLE-ES 2 203973771 203973771 single base substitution A G intron_variant CLLE-ES 2 203975407 203975407 insertion of <=200bp - AATT intron_variant CLLE-ES 2 203993066 203993066 single base substitution A C intron_variant CLLE-ES 2 203993667 203993667 single base substitution G A intron_variant CLLE-ES 2 204037320 204037320 single base substitution A C intron_variant CLLE-ES 2 204064067 204064067 single base substitution A G missense_variant I2350V 7048A>G CLLE-ES 2 204064067 204064067 single base substitution A G missense_variant I365V 1093A>G CLLE-ES 2 204065940 204065942 deletion of <=200bp TCT - intron_variant CLLE-ES 2 204073670 204073670 single base substitution G A intron_variant CLLE-ES 2 204080755 204080755 single base substitution T G intron_variant CLLE-ES 2 204083764 204083764 single base substitution G A 3_prime_UTR_variant CLLE-ES 2 204083764 204083764 single base substitution G A downstream_gene_variant CLLE-ES 2 204083764 204083764 single base substitution G A intron_variant CLLE-ES 2 204087422 204087422 single base substitution G A downstream_gene_variant CLLE-ES 2 204087422 204087422 single base substitution G A intron_variant COAD-US 2 203922058 203922058 deletion of <=200bp A - exon_variant COAD-US 2 203922058 203922058 deletion of <=200bp A - frameshift_variant K133 COAD-US 2 203922115 203922115 single base substitution G A exon_variant COAD-US 2 203922115 203922115 single base substitution G A missense_variant A152T 454G>A COAD-US 2 203933118 203933118 single base substitution G A missense_variant R173Q 518G>A COAD-US 2 203933118 203933118 single base substitution G A splice_region_variant COAD-US 2 203972189 203972189 single base substitution T C missense_variant L410S 1229T>C COAD-US 2 203972486 203972486 single base substitution G T missense_variant Q479H 1437G>T COAD-US 2 203980748 203980748 single base substitution C T synonymous_variant D820D 2460C>T COAD-US 2 203995146 203995146 single base substitution G A missense_variant A1142T 3424G>A COAD-US 2 204031988 204031988 single base substitution C T stop_gained R1939* 5815C>T COAD-US 2 204031988 204031988 single base substitution C T upstream_gene_variant COAD-US 2 204034491 204034491 single base substitution C A synonymous_variant R1978R 5932C>A COAD-US 2 204034491 204034491 single base substitution C A synonymous_variant R25R 73C>A COAD-US 2 204039880 204039880 single base substitution T G missense_variant F2083V 6247T>G COAD-US 2 204039880 204039880 single base substitution T G missense_variant F98V 292T>G COAD-US 2 204039965 204039965 single base substitution G A missense_variant R126H 377G>A COAD-US 2 204039965 204039965 single base substitution G A missense_variant R2111H 6332G>A COAD-US 2 204048090 204048090 single base substitution C G exon_variant COAD-US 2 204048090 204048090 single base substitution C G missense_variant I214M 642C>G COAD-US 2 204048090 204048090 single base substitution C G missense_variant I2199M 6597C>G COAD-US 2 204055107 204055107 single base substitution T C exon_variant COAD-US 2 204055107 204055107 single base substitution T C synonymous_variant L2277L 6829T>C COAD-US 2 204055107 204055107 single base substitution T C synonymous_variant L292L 874T>C COAD-US 2 204058623 204058623 deletion of <=200bp T - downstream_gene_variant COAD-US 2 204058623 204058623 deletion of <=200bp T - frameshift_variant F2314 COAD-US 2 204058623 204058623 deletion of <=200bp T - frameshift_variant F329 COAD-US 2 204064140 204064140 single base substitution T C missense_variant F2374S 7121T>C COAD-US 2 204064140 204064140 single base substitution T C missense_variant F389S 1166T>C COAD-US 2 204074029 204074029 deletion of <=200bp A - frameshift_variant E2561 COAD-US 2 204074029 204074029 deletion of <=200bp A - frameshift_variant E576 COAD-US 2 204074029 204074029 deletion of <=200bp A - frameshift_variant E88 COAD-US 2 204078342 204078342 single base substitution A C missense_variant K177T 530A>C COAD-US 2 204078342 204078342 single base substitution A C missense_variant K2650T 7949A>C COAD-US 2 204078342 204078342 single base substitution A C missense_variant K665T 1994A>C COCA-CN 2 203918575 203918575 single base substitution C T downstream_gene_variant COCA-CN 2 203918575 203918575 single base substitution C T intron_variant COCA-CN 2 203921290 203921290 single base substitution G A intron_variant COCA-CN 2 203933177 203933177 single base substitution G T exon_variant COCA-CN 2 203933177 203933177 single base substitution G T stop_gained E193* 577G>T COCA-CN 2 203947874 203947874 single base substitution C A intron_variant COCA-CN 2 203947874 203947874 single base substitution C A upstream_gene_variant COCA-CN 2 203948200 203948200 single base substitution T C exon_variant COCA-CN 2 203948200 203948200 single base substitution T C missense_variant S315P 943T>C COCA-CN 2 203948200 203948200 single base substitution T C upstream_gene_variant COCA-CN 2 203972227 203972227 single base substitution G T stop_gained E423* 1267G>T COCA-CN 2 203972266 203972266 single base substitution G T intron_variant COCA-CN 2 203972464 203972464 single base substitution G T missense_variant R472I 1415G>T COCA-CN 2 203972884 203972884 single base substitution A G missense_variant K612R 1835A>G COCA-CN 2 203980755 203980755 single base substitution G A missense_variant D823N 2467G>A COCA-CN 2 203991438 203991438 single base substitution C T splice_region_variant COCA-CN 2 203991561 203991561 single base substitution C A missense_variant L1025I 3073C>A COCA-CN 2 203995266 203995266 single base substitution A G intron_variant COCA-CN 2 204001388 204001388 single base substitution G T stop_gained E1457* 4369G>T COCA-CN 2 204001498 204001498 single base substitution G A splice_donor_variant COCA-CN 2 204003146 204003146 single base substitution T C intron_variant COCA-CN 2 204003450 204003450 single base substitution C T synonymous_variant F1580F 4740C>T COCA-CN 2 204009371 204009371 single base substitution G T missense_variant V1604L 4810G>T COCA-CN 2 204009575 204009575 single base substitution G T missense_variant D1672Y 5014G>T COCA-CN 2 204031932 204031932 single base substitution G T intron_variant COCA-CN 2 204031932 204031932 single base substitution G T upstream_gene_variant COCA-CN 2 204045083 204045083 single base substitution C A intron_variant COCA-CN 2 204045083 204045083 single base substitution C A upstream_gene_variant COCA-CN 2 204066394 204066394 single base substitution C A stop_gained S2427* 7280C>A COCA-CN 2 204066394 204066394 single base substitution C A stop_gained S442* 1325C>A COCA-CN 2 204067585 204067585 single base substitution G A intron_variant COCA-CN 2 204073437 204073437 single base substitution C T synonymous_variant G2499G 7497C>T COCA-CN 2 204073437 204073437 single base substitution C T synonymous_variant G26G 78C>T COCA-CN 2 204073437 204073437 single base substitution C T synonymous_variant G514G 1542C>T COCA-CN 2 204075772 204075772 single base substitution G A missense_variant G124E 371G>A COCA-CN 2 204075772 204075772 single base substitution G A missense_variant G2597E 7790G>A COCA-CN 2 204075772 204075772 single base substitution G A missense_variant G612E 1835G>A COCA-CN 2 204082091 204082091 single base substitution T G 3_prime_UTR_variant COCA-CN 2 204082091 204082091 single base substitution T G intron_variant EOPC-DE 2 203894361 203894361 single base substitution G A intron_variant EOPC-DE 2 203936886 203936886 single base substitution T C intron_variant EOPC-DE 2 203947799 203947799 single base substitution G A intron_variant EOPC-DE 2 203947799 203947799 single base substitution G A upstream_gene_variant EOPC-DE 2 203979442 203979442 single base substitution T G intron_variant EOPC-DE 2 204025112 204025112 single base substitution T C intron_variant EOPC-DE 2 204067252 204067252 single base substitution G T intron_variant ESAD-UK 2 203874665 203874665 single base substitution T C upstream_gene_variant ESAD-UK 2 203875539 203875539 single base substitution T C upstream_gene_variant ESAD-UK 2 203876304 203876304 single base substitution G T upstream_gene_variant ESAD-UK 2 203877082 203877082 single base substitution C T upstream_gene_variant ESAD-UK 2 203877917 203877917 single base substitution A T upstream_gene_variant ESAD-UK 2 203878085 203878085 single base substitution T G upstream_gene_variant ESAD-UK 2 203879373 203879373 single base substitution C T upstream_gene_variant ESAD-UK 2 203879438 203879438 single base substitution T A upstream_gene_variant ESAD-UK 2 203879452 203879452 single base substitution A C upstream_gene_variant ESAD-UK 2 203881220 203881220 single base substitution C G intron_variant ESAD-UK 2 203882276 203882276 single base substitution C T intron_variant ESAD-UK 2 203885642 203885642 insertion of <=200bp - T intron_variant ESAD-UK 2 203885986 203885986 single base substitution T G intron_variant ESAD-UK 2 203886491 203886491 single base substitution G A intron_variant ESAD-UK 2 203886532 203886532 single base substitution G A intron_variant ESAD-UK 2 203887586 203887586 single base substitution G A intron_variant ESAD-UK 2 203888173 203888173 single base substitution G T intron_variant ESAD-UK 2 203889975 203889975 single base substitution G A intron_variant ESAD-UK 2 203890935 203890935 insertion of <=200bp - T intron_variant ESAD-UK 2 203891663 203891663 single base substitution A C intron_variant ESAD-UK 2 203895165 203895168 deletion of <=200bp AGTA - intron_variant ESAD-UK 2 203896434 203896434 single base substitution A G intron_variant ESAD-UK 2 203899025 203899025 single base substitution C T intron_variant ESAD-UK 2 203900022 203900022 single base substitution T G intron_variant ESAD-UK 2 203901200 203901200 single base substitution T C intron_variant ESAD-UK 2 203901661 203901661 single base substitution C T intron_variant ESAD-UK 2 203901924 203901924 single base substitution C G intron_variant ESAD-UK 2 203902496 203902496 single base substitution G A intron_variant ESAD-UK 2 203906690 203906690 single base substitution C G downstream_gene_variant ESAD-UK 2 203906690 203906690 single base substitution C G intron_variant ESAD-UK 2 203910125 203910125 insertion of <=200bp - A downstream_gene_variant ESAD-UK 2 203910125 203910125 insertion of <=200bp - A intron_variant ESAD-UK 2 203911191 203911191 single base substitution C T downstream_gene_variant ESAD-UK 2 203911191 203911191 single base substitution C T intron_variant ESAD-UK 2 203911811 203911811 single base substitution A G intron_variant ESAD-UK 2 203912752 203912752 single base substitution A C intron_variant ESAD-UK 2 203915345 203915345 single base substitution G A downstream_gene_variant ESAD-UK 2 203915345 203915345 single base substitution G A intron_variant ESAD-UK 2 203915714 203915714 single base substitution A G downstream_gene_variant ESAD-UK 2 203915714 203915714 single base substitution A G intron_variant ESAD-UK 2 203918738 203918738 single base substitution A C downstream_gene_variant ESAD-UK 2 203918738 203918738 single base substitution A C intron_variant ESAD-UK 2 203919918 203919918 single base substitution G T intron_variant ESAD-UK 2 203920011 203920011 single base substitution G A intron_variant ESAD-UK 2 203920672 203920672 deletion of <=200bp A - intron_variant ESAD-UK 2 203924880 203924880 single base substitution G T intron_variant ESAD-UK 2 203925744 203925744 single base substitution C T intron_variant ESAD-UK 2 203928662 203928662 deletion of <=200bp A - downstream_gene_variant ESAD-UK 2 203928662 203928662 deletion of <=200bp A - intron_variant ESAD-UK 2 203928662 203928662 insertion of <=200bp - A downstream_gene_variant ESAD-UK 2 203928662 203928662 insertion of <=200bp - A intron_variant ESAD-UK 2 203929879 203929879 single base substitution G C downstream_gene_variant ESAD-UK 2 203929879 203929879 single base substitution G C intron_variant ESAD-UK 2 203931569 203931569 single base substitution T G downstream_gene_variant ESAD-UK 2 203931569 203931569 single base substitution T G intron_variant ESAD-UK 2 203932400 203932400 deletion of <=200bp T - intron_variant ESAD-UK 2 203933300 203933300 single base substitution T G intron_variant ESAD-UK 2 203934419 203934419 single base substitution C A intron_variant ESAD-UK 2 203935409 203935409 single base substitution G A intron_variant ESAD-UK 2 203936995 203936995 single base substitution T C intron_variant ESAD-UK 2 203940625 203940625 single base substitution G C intron_variant ESAD-UK 2 203941004 203941004 single base substitution G C intron_variant ESAD-UK 2 203941746 203941746 single base substitution G T intron_variant ESAD-UK 2 203941747 203941747 single base substitution G T intron_variant ESAD-UK 2 203942763 203942763 single base substitution T G intron_variant ESAD-UK 2 203944440 203944440 single base substitution T C intron_variant ESAD-UK 2 203944440 203944440 single base substitution T C upstream_gene_variant ESAD-UK 2 203949371 203949371 insertion of <=200bp - T exon_variant ESAD-UK 2 203949371 203949371 insertion of <=200bp - T intron_variant ESAD-UK 2 203951048 203951048 single base substitution C T downstream_gene_variant ESAD-UK 2 203951048 203951048 single base substitution C T intron_variant ESAD-UK 2 203951119 203951119 single base substitution G A downstream_gene_variant ESAD-UK 2 203951119 203951119 single base substitution G A intron_variant ESAD-UK 2 203952175 203952175 single base substitution T C downstream_gene_variant ESAD-UK 2 203952175 203952175 single base substitution T C intron_variant ESAD-UK 2 203956170 203956170 single base substitution T C intron_variant ESAD-UK 2 203957173 203957173 single base substitution A C intron_variant ESAD-UK 2 203957724 203957724 single base substitution G A intron_variant ESAD-UK 2 203957816 203957816 single base substitution G A intron_variant ESAD-UK 2 203958585 203958585 insertion of <=200bp - A intron_variant ESAD-UK 2 203959472 203959472 deletion of <=200bp T - intron_variant ESAD-UK 2 203966341 203966341 single base substitution C T downstream_gene_variant ESAD-UK 2 203966341 203966341 single base substitution C T intron_variant ESAD-UK 2 203966597 203966597 single base substitution G A downstream_gene_variant ESAD-UK 2 203966597 203966597 single base substitution G A intron_variant ESAD-UK 2 203969099 203969099 deletion of <=200bp T - intron_variant ESAD-UK 2 203970476 203970476 single base substitution T C intron_variant ESAD-UK 2 203972241 203972241 single base substitution G C missense_variant M427I 1281G>C ESAD-UK 2 203973103 203973103 single base substitution A C intron_variant ESAD-UK 2 203973218 203973218 single base substitution T C intron_variant ESAD-UK 2 203974933 203974933 single base substitution C T synonymous_variant V641V 1923C>T ESAD-UK 2 203976461 203976461 single base substitution A G intron_variant ESAD-UK 2 203977956 203977956 single base substitution C T synonymous_variant P778P 2334C>T ESAD-UK 2 203978280 203978280 single base substitution C T intron_variant ESAD-UK 2 203979478 203979478 single base substitution G T intron_variant ESAD-UK 2 203984650 203984650 deletion of <=200bp T - intron_variant ESAD-UK 2 203985275 203985275 single base substitution A C intron_variant ESAD-UK 2 203985926 203985926 single base substitution T G intron_variant ESAD-UK 2 203985944 203985944 single base substitution T C intron_variant ESAD-UK 2 203986028 203986028 single base substitution T C intron_variant ESAD-UK 2 203987159 203987159 single base substitution A C intron_variant ESAD-UK 2 203988778 203988778 single base substitution G A intron_variant ESAD-UK 2 203989701 203989701 single base substitution T G intron_variant ESAD-UK 2 203991013 203991013 single base substitution T C intron_variant ESAD-UK 2 203992195 203992195 single base substitution C G intron_variant ESAD-UK 2 203995694 203995694 single base substitution C G intron_variant ESAD-UK 2 203995845 203995845 single base substitution A T intron_variant ESAD-UK 2 204000143 204000143 single base substitution A C intron_variant ESAD-UK 2 204000372 204000372 single base substitution G C intron_variant ESAD-UK 2 204001119 204001119 single base substitution G A intron_variant ESAD-UK 2 204001604 204001604 single base substitution G C intron_variant ESAD-UK 2 204002842 204002842 single base substitution C G intron_variant ESAD-UK 2 204003459 204003459 single base substitution G T missense_variant R1583S 4749G>T ESAD-UK 2 204004921 204004921 single base substitution G A intron_variant ESAD-UK 2 204007337 204007337 insertion of <=200bp - T intron_variant ESAD-UK 2 204007449 204007449 deletion of <=200bp A - intron_variant ESAD-UK 2 204007647 204007647 single base substitution T C intron_variant ESAD-UK 2 204012700 204012700 single base substitution G A intron_variant ESAD-UK 2 204012719 204012719 insertion of <=200bp - TT intron_variant ESAD-UK 2 204015915 204015915 single base substitution G A intron_variant ESAD-UK 2 204015978 204015978 single base substitution C T intron_variant ESAD-UK 2 204015989 204015989 single base substitution A G intron_variant ESAD-UK 2 204015990 204015990 single base substitution G T intron_variant ESAD-UK 2 204016691 204016691 insertion of <=200bp - TTTCG intron_variant ESAD-UK 2 204022811 204022811 single base substitution G T intron_variant ESAD-UK 2 204022866 204022866 single base substitution A C intron_variant ESAD-UK 2 204022926 204022926 single base substitution T G intron_variant ESAD-UK 2 204023038 204023038 single base substitution G A intron_variant ESAD-UK 2 204024443 204024443 single base substitution A G intron_variant ESAD-UK 2 204024929 204024929 single base substitution A C intron_variant ESAD-UK 2 204026195 204026195 single base substitution T C intron_variant ESAD-UK 2 204028872 204028872 single base substitution C A intron_variant ESAD-UK 2 204028872 204028872 single base substitution C A upstream_gene_variant ESAD-UK 2 204030859 204030859 single base substitution C T intron_variant ESAD-UK 2 204030859 204030859 single base substitution C T upstream_gene_variant ESAD-UK 2 204031769 204031769 single base substitution A G intron_variant ESAD-UK 2 204031769 204031769 single base substitution A G upstream_gene_variant ESAD-UK 2 204033526 204033526 single base substitution A C intron_variant ESAD-UK 2 204036394 204036394 single base substitution G T intron_variant ESAD-UK 2 204037660 204037660 single base substitution T A intron_variant ESAD-UK 2 204039624 204039624 single base substitution A G intron_variant ESAD-UK 2 204047846 204047846 deletion of <=200bp T - exon_variant ESAD-UK 2 204047846 204047846 deletion of <=200bp T - intron_variant ESAD-UK 2 204053157 204053180 deletion of <=200bp TATCTCTATATTAATTATTAAATT - intron_variant ESAD-UK 2 204055342 204055342 single base substitution T G exon_variant ESAD-UK 2 204055342 204055342 single base substitution T G intron_variant ESAD-UK 2 204057284 204057284 single base substitution T G downstream_gene_variant ESAD-UK 2 204057284 204057284 single base substitution T G intron_variant ESAD-UK 2 204058559 204058559 single base substitution G A downstream_gene_variant ESAD-UK 2 204058559 204058559 single base substitution G A synonymous_variant Q2292Q 6876G>A ESAD-UK 2 204058559 204058559 single base substitution G A synonymous_variant Q307Q 921G>A ESAD-UK 2 204059813 204059813 single base substitution C A downstream_gene_variant ESAD-UK 2 204059813 204059813 single base substitution C A intron_variant ESAD-UK 2 204060083 204060083 single base substitution C G downstream_gene_variant ESAD-UK 2 204060083 204060083 single base substitution C G intron_variant ESAD-UK 2 204060216 204060216 single base substitution A T downstream_gene_variant ESAD-UK 2 204060216 204060216 single base substitution A T intron_variant ESAD-UK 2 204060491 204060491 single base substitution G A downstream_gene_variant ESAD-UK 2 204060491 204060491 single base substitution G A intron_variant ESAD-UK 2 204061298 204061298 single base substitution G A intron_variant ESAD-UK 2 204061777 204061777 single base substitution T G intron_variant ESAD-UK 2 204061804 204061804 single base substitution A C intron_variant ESAD-UK 2 204068194 204068194 single base substitution G A intron_variant ESAD-UK 2 204068865 204068865 single base substitution C T intron_variant ESAD-UK 2 204068865 204068865 single base substitution C T upstream_gene_variant ESAD-UK 2 204068973 204068973 single base substitution A G intron_variant ESAD-UK 2 204068973 204068973 single base substitution A G upstream_gene_variant ESAD-UK 2 204081676 204081676 single base substitution G A intron_variant ESAD-UK 2 204082257 204082257 single base substitution G A 3_prime_UTR_variant ESAD-UK 2 204082257 204082257 single base substitution G A downstream_gene_variant ESAD-UK 2 204082257 204082257 single base substitution G A intron_variant ESAD-UK 2 204087602 204087602 single base substitution A C downstream_gene_variant ESAD-UK 2 204087602 204087602 single base substitution A C intron_variant ESAD-UK 2 204089145 204089145 single base substitution T G downstream_gene_variant ESAD-UK 2 204089145 204089145 single base substitution T G intron_variant ESAD-UK 2 204091375 204091375 single base substitution G A downstream_gene_variant ESAD-UK 2 204091854 204091854 single base substitution G T downstream_gene_variant ESAD-UK 2 204092383 204092383 single base substitution C T downstream_gene_variant ESAD-UK 2 204092827 204092827 single base substitution T A downstream_gene_variant ESAD-UK 2 204092951 204092951 single base substitution G A downstream_gene_variant ESCA-CN 2 203906591 203906591 single base substitution C T downstream_gene_variant ESCA-CN 2 203906591 203906591 single base substitution C T intron_variant ESCA-CN 2 203922057 203922057 insertion of <=200bp - A exon_variant ESCA-CN 2 203922057 203922057 insertion of <=200bp - A frameshift_variant S132R? ESCA-CN 2 203953454 203953454 single base substitution A G downstream_gene_variant ESCA-CN 2 203953454 203953454 single base substitution A G intron_variant ESCA-CN 2 203962441 203962441 single base substitution T C downstream_gene_variant ESCA-CN 2 203962441 203962441 single base substitution T C intron_variant ESCA-CN 2 203977870 203977870 single base substitution G T missense_variant A750S 2248G>T ESCA-CN 2 204000527 204000527 single base substitution A G missense_variant H1285R 3854A>G ESCA-CN 2 204031010 204031010 single base substitution A T missense_variant E1922D 5766A>T ESCA-CN 2 204031010 204031010 single base substitution A T upstream_gene_variant ESCA-CN 2 204048100 204048100 single base substitution A T exon_variant ESCA-CN 2 204048100 204048100 single base substitution A T missense_variant R218W 652A>T ESCA-CN 2 204048100 204048100 single base substitution A T missense_variant R2203W 6607A>T ESCA-CN 2 204056042 204056042 single base substitution G A exon_variant ESCA-CN 2 204056042 204056042 single base substitution G A intron_variant GACA-CN 2 203977928 203977928 single base substitution G C missense_variant G769A 2306G>C GBM-US 2 204000539 204000539 single base substitution T C missense_variant V1289A 3866T>C GBM-US 2 204002914 204002914 single base substitution T C missense_variant I1503T 4508T>C GBM-US 2 204037528 204037528 single base substitution A G missense_variant K2063R 6188A>G GBM-US 2 204037528 204037528 single base substitution A G missense_variant K78R 233A>G KIRC-US 2 203976709 203976709 single base substitution T C missense_variant I668T 2003T>C KIRC-US 2 204002984 204002984 single base substitution A T synonymous_variant I1526I 4578A>T KIRC-US 2 204039911 204039911 single base substitution T A missense_variant F108Y 323T>A KIRC-US 2 204039911 204039911 single base substitution T A missense_variant F2093Y 6278T>A KIRC-US 2 204045216 204045217 deletion of <=200bp GT - frameshift_variant EF178 KIRC-US 2 204045216 204045217 deletion of <=200bp GT - frameshift_variant EF2163 KIRC-US 2 204045216 204045217 deletion of <=200bp GT - upstream_gene_variant KIRP-US 2 203972839 203972839 single base substitution G A stop_gained W597* 1790G>A KIRP-US 2 204039877 204039877 single base substitution A T missense_variant N2082Y 6244A>T KIRP-US 2 204039877 204039877 single base substitution A T missense_variant N97Y 289A>T KIRP-US 2 204058575 204058575 single base substitution G T downstream_gene_variant KIRP-US 2 204058575 204058575 single base substitution G T missense_variant D2298Y 6892G>T KIRP-US 2 204058575 204058575 single base substitution G T missense_variant D313Y 937G>T LAML-KR 2 203905175 203905175 single base substitution G T intron_variant LAML-KR 2 203921270 203921270 single base substitution A G intron_variant LAML-KR 2 203996635 203996635 single base substitution T G intron_variant LAML-KR 2 204055698 204055698 single base substitution A G exon_variant LAML-KR 2 204055698 204055698 single base substitution A G intron_variant LAML-KR 2 204055943 204055943 single base substitution T C exon_variant LAML-KR 2 204055943 204055943 single base substitution T C intron_variant LAML-KR 2 204055980 204055980 single base substitution G C exon_variant LAML-KR 2 204055980 204055980 single base substitution G C intron_variant LAML-KR 2 204075342 204075342 single base substitution G A intron_variant LGG-US 2 204003429 204003429 single base substitution G C missense_variant Q1573H 4719G>C LICA-CN 2 204000415 204000415 single base substitution C T stop_gained Q1248* 3742C>T LICA-FR 2 203910932 203910932 insertion of <=200bp - TATT downstream_gene_variant LICA-FR 2 203910932 203910932 insertion of <=200bp - TATT intron_variant LICA-FR 2 203914453 203914453 single base substitution G T intron_variant LICA-FR 2 203917443 203917443 insertion of <=200bp - TTATTTAT downstream_gene_variant LICA-FR 2 203917443 203917443 insertion of <=200bp - TTATTTAT intron_variant LICA-FR 2 203944486 203944486 single base substitution A G intron_variant LICA-FR 2 203944486 203944486 single base substitution A G upstream_gene_variant LICA-FR 2 203948002 203948002 single base substitution G A exon_variant LICA-FR 2 203948002 203948002 single base substitution G A missense_variant D249N 745G>A LICA-FR 2 203948002 203948002 single base substitution G A upstream_gene_variant LICA-FR 2 203953023 203953023 single base substitution T A downstream_gene_variant LICA-FR 2 203953023 203953023 single base substitution T A intron_variant LICA-FR 2 203965272 203965272 insertion of <=200bp - T downstream_gene_variant LICA-FR 2 203965272 203965272 insertion of <=200bp - T intron_variant LICA-FR 2 203976078 203976078 single base substitution A G intron_variant LICA-FR 2 203987057 203987057 single base substitution G T missense_variant W862C 2586G>T LICA-FR 2 203992960 203992960 insertion of <=200bp - C intron_variant LICA-FR 2 203996344 203996344 single base substitution A G intron_variant LICA-FR 2 203996736 203996736 single base substitution G A missense_variant R1173H 3518G>A LICA-FR 2 204009520 204009520 single base substitution G A missense_variant M1653I 4959G>A LICA-FR 2 204010419 204010419 single base substitution G C intron_variant LICA-FR 2 204021170 204021170 single base substitution A G intron_variant LICA-FR 2 204029585 204029585 insertion of <=200bp - TT intron_variant LICA-FR 2 204029585 204029585 insertion of <=200bp - TT upstream_gene_variant LICA-FR 2 204054426 204054426 single base substitution A G intron_variant LICA-FR 2 204055455 204055455 single base substitution C G exon_variant LICA-FR 2 204055455 204055455 single base substitution C G intron_variant LICA-FR 2 204055473 204055473 single base substitution C T exon_variant LICA-FR 2 204055473 204055473 single base substitution C T intron_variant LICA-FR 2 204072363 204072363 single base substitution C T intron_variant LICA-FR 2 204072363 204072363 single base substitution C T upstream_gene_variant LICA-FR 2 204077330 204077331 deletion of <=200bp AA - intron_variant LICA-FR 2 204084202 204084202 single base substitution A G 3_prime_UTR_variant LICA-FR 2 204084202 204084202 single base substitution A G downstream_gene_variant LICA-FR 2 204084202 204084202 single base substitution A G intron_variant LICA-FR 2 204085207 204085207 insertion of <=200bp - A downstream_gene_variant LICA-FR 2 204085207 204085207 insertion of <=200bp - A intron_variant LIHC-US 2 204009591 204009591 single base substitution G T missense_variant C1677F 5030G>T LIHC-US 2 204067444 204067444 single base substitution A T synonymous_variant G2453G 7359A>T LIHC-US 2 204067444 204067444 single base substitution A T synonymous_variant G468G 1404A>T LINC-JP 2 203882514 203882514 single base substitution A G intron_variant LINC-JP 2 203902434 203902434 single base substitution A G intron_variant LINC-JP 2 203912653 203912653 single base substitution A G intron_variant LINC-JP 2 203948089 203948089 single base substitution A G exon_variant LINC-JP 2 203948089 203948089 single base substitution A G missense_variant I278V 832A>G LINC-JP 2 203948089 203948089 single base substitution A G upstream_gene_variant LINC-JP 2 203948357 203948357 single base substitution T G intron_variant LINC-JP 2 203968282 203968282 single base substitution A G intron_variant LINC-JP 2 203973132 203973132 single base substitution G T intron_variant LINC-JP 2 203976505 203976505 single base substitution A G intron_variant LINC-JP 2 203980891 203980891 single base substitution G T intron_variant LINC-JP 2 203982219 203982219 single base substitution A C intron_variant LINC-JP 2 203982247 203982247 single base substitution A C intron_variant LINC-JP 2 203983763 203983763 single base substitution C A intron_variant LINC-JP 2 203987041 203987041 single base substitution A G missense_variant N857S 2570A>G LINC-JP 2 204002243 204002243 single base substitution C A intron_variant LINC-JP 2 204003402 204003402 single base substitution A C synonymous_variant P1564P 4692A>C LINC-JP 2 204009456 204009456 single base substitution T C missense_variant I1632T 4895T>C LINC-JP 2 204009862 204009862 single base substitution G A synonymous_variant G1732G 5196G>A LINC-JP 2 204014146 204014146 deletion of <=200bp T - intron_variant LINC-JP 2 204015160 204015160 single base substitution A T intron_variant LINC-JP 2 204025622 204025622 deletion of <=200bp C - intron_variant LINC-JP 2 204057891 204057891 single base substitution C A downstream_gene_variant LINC-JP 2 204057891 204057891 single base substitution C A intron_variant LINC-JP 2 204057892 204057892 single base substitution A G downstream_gene_variant LINC-JP 2 204057892 204057892 single base substitution A G intron_variant LINC-JP 2 204058694 204058694 single base substitution T C downstream_gene_variant LINC-JP 2 204058694 204058694 single base substitution T C intron_variant LINC-JP 2 204062088 204062088 single base substitution A G missense_variant M2339V 7015A>G LINC-JP 2 204062088 204062088 single base substitution A G missense_variant M354V 1060A>G LINC-JP 2 204071171 204071171 single base substitution G A intron_variant LINC-JP 2 204071171 204071171 single base substitution G A upstream_gene_variant LINC-JP 2 204082414 204082414 single base substitution T G 3_prime_UTR_variant LINC-JP 2 204082414 204082414 single base substitution T G downstream_gene_variant LINC-JP 2 204082414 204082414 single base substitution T G intron_variant LIRI-JP 2 203877082 203877082 single base substitution C T upstream_gene_variant LIRI-JP 2 203877949 203877949 single base substitution T C upstream_gene_variant LIRI-JP 2 203878652 203878652 single base substitution T C upstream_gene_variant LIRI-JP 2 203881931 203881931 single base substitution A G intron_variant LIRI-JP 2 203883121 203883121 single base substitution T G intron_variant LIRI-JP 2 203884329 203884329 single base substitution G T intron_variant LIRI-JP 2 203886437 203886437 single base substitution A G intron_variant LIRI-JP 2 203887370 203887370 single base substitution A C intron_variant LIRI-JP 2 203888042 203888042 single base substitution T G intron_variant LIRI-JP 2 203891069 203891069 single base substitution A G intron_variant LIRI-JP 2 203895461 203895461 single base substitution A G intron_variant LIRI-JP 2 203895842 203895842 single base substitution A G intron_variant LIRI-JP 2 203896404 203896404 single base substitution A G intron_variant LIRI-JP 2 203896505 203896505 single base substitution A G intron_variant LIRI-JP 2 203898753 203898753 single base substitution T A intron_variant LIRI-JP 2 203899004 203899004 single base substitution C T intron_variant LIRI-JP 2 203901068 203901068 single base substitution A G intron_variant LIRI-JP 2 203903695 203903695 single base substitution A C intron_variant LIRI-JP 2 203905489 203905489 single base substitution G A intron_variant LIRI-JP 2 203906661 203906661 single base substitution G A downstream_gene_variant LIRI-JP 2 203906661 203906661 single base substitution G A intron_variant LIRI-JP 2 203907737 203907737 single base substitution A G downstream_gene_variant LIRI-JP 2 203907737 203907737 single base substitution A G intron_variant LIRI-JP 2 203908952 203908953 deletion of <=200bp TA - downstream_gene_variant LIRI-JP 2 203908952 203908953 deletion of <=200bp TA - intron_variant LIRI-JP 2 203913561 203913561 single base substitution T G intron_variant LIRI-JP 2 203914457 203914457 deletion of <=200bp A - intron_variant LIRI-JP 2 203914855 203914855 single base substitution A G exon_variant LIRI-JP 2 203914855 203914855 single base substitution A G intron_variant LIRI-JP 2 203915819 203915819 single base substitution C G downstream_gene_variant LIRI-JP 2 203915819 203915819 single base substitution C G intron_variant LIRI-JP 2 203916528 203916528 single base substitution A G downstream_gene_variant LIRI-JP 2 203916528 203916528 single base substitution A G intron_variant LIRI-JP 2 203917057 203917057 single base substitution A C downstream_gene_variant LIRI-JP 2 203917057 203917057 single base substitution A C intron_variant LIRI-JP 2 203918799 203918799 single base substitution C A downstream_gene_variant LIRI-JP 2 203918799 203918799 single base substitution C A intron_variant LIRI-JP 2 203920233 203920233 single base substitution T G intron_variant LIRI-JP 2 203920976 203920976 single base substitution A G intron_variant LIRI-JP 2 203921212 203921212 single base substitution C T exon_variant LIRI-JP 2 203921212 203921212 single base substitution C T missense_variant T123I 368C>T LIRI-JP 2 203933508 203933508 single base substitution A G intron_variant LIRI-JP 2 203934443 203934443 single base substitution A G intron_variant LIRI-JP 2 203937755 203937755 single base substitution C T intron_variant LIRI-JP 2 203939463 203939463 single base substitution C G intron_variant LIRI-JP 2 203941409 203941409 single base substitution G T intron_variant LIRI-JP 2 203942111 203942111 single base substitution A G intron_variant LIRI-JP 2 203942935 203942935 single base substitution A T intron_variant LIRI-JP 2 203944731 203944731 single base substitution A G intron_variant LIRI-JP 2 203944731 203944731 single base substitution A G upstream_gene_variant LIRI-JP 2 203945536 203945536 single base substitution G T intron_variant LIRI-JP 2 203945536 203945536 single base substitution G T upstream_gene_variant LIRI-JP 2 203946331 203946331 single base substitution A G intron_variant LIRI-JP 2 203946331 203946331 single base substitution A G upstream_gene_variant LIRI-JP 2 203946798 203946798 single base substitution A T intron_variant LIRI-JP 2 203946798 203946798 single base substitution A T upstream_gene_variant LIRI-JP 2 203956295 203956295 single base substitution T C intron_variant LIRI-JP 2 203957326 203957326 single base substitution A G intron_variant LIRI-JP 2 203959244 203959244 deletion of <=200bp T - intron_variant LIRI-JP 2 203959253 203959253 single base substitution C G intron_variant LIRI-JP 2 203961726 203961726 single base substitution A G intron_variant LIRI-JP 2 203964184 203964190 deletion of <=200bp GTAACTT - downstream_gene_variant LIRI-JP 2 203964184 203964190 deletion of <=200bp GTAACTT - intron_variant LIRI-JP 2 203965109 203965109 single base substitution T G downstream_gene_variant LIRI-JP 2 203965109 203965109 single base substitution T G intron_variant LIRI-JP 2 203965873 203965873 single base substitution A G downstream_gene_variant LIRI-JP 2 203965873 203965873 single base substitution A G intron_variant LIRI-JP 2 203968207 203968207 single base substitution C G intron_variant LIRI-JP 2 203968363 203968363 single base substitution T G intron_variant LIRI-JP 2 203968452 203968452 single base substitution T A intron_variant LIRI-JP 2 203968684 203968684 single base substitution G T intron_variant LIRI-JP 2 203970620 203970620 single base substitution A G intron_variant LIRI-JP 2 203970711 203970711 single base substitution C G intron_variant LIRI-JP 2 203971280 203971280 deletion of <=200bp T - intron_variant LIRI-JP 2 203971552 203971552 single base substitution A G intron_variant LIRI-JP 2 203974404 203974404 single base substitution G A intron_variant LIRI-JP 2 203975445 203975448 deletion of <=200bp ACGT - intron_variant LIRI-JP 2 203976415 203976415 single base substitution C G intron_variant LIRI-JP 2 203979114 203979114 single base substitution A G intron_variant LIRI-JP 2 203979145 203979145 insertion of <=200bp - T intron_variant LIRI-JP 2 203979779 203979795 deletion of <=200bp TGATCATTTTTAATGGT - intron_variant LIRI-JP 2 203981904 203981904 single base substitution C T intron_variant LIRI-JP 2 203981969 203981969 single base substitution C T intron_variant LIRI-JP 2 203982517 203982517 single base substitution A C intron_variant LIRI-JP 2 203983201 203983201 single base substitution G A intron_variant LIRI-JP 2 203988589 203988589 single base substitution G A intron_variant LIRI-JP 2 203988904 203988904 single base substitution A G intron_variant LIRI-JP 2 203992723 203992723 single base substitution G A intron_variant LIRI-JP 2 203998092 203998092 single base substitution T G intron_variant LIRI-JP 2 204000285 204000285 single base substitution T C intron_variant LIRI-JP 2 204000358 204000358 single base substitution A G intron_variant LIRI-JP 2 204001358 204001358 single base substitution A G missense_variant I1447V 4339A>G LIRI-JP 2 204001692 204001692 single base substitution T G intron_variant LIRI-JP 2 204002049 204002049 single base substitution A T intron_variant LIRI-JP 2 204003039 204003039 single base substitution G A splice_donor_variant LIRI-JP 2 204003307 204003307 single base substitution A G intron_variant LIRI-JP 2 204005097 204005097 single base substitution A G intron_variant LIRI-JP 2 204005378 204005378 single base substitution T C intron_variant LIRI-JP 2 204005397 204005397 single base substitution A G intron_variant LIRI-JP 2 204007678 204007678 single base substitution A G intron_variant LIRI-JP 2 204008886 204008886 single base substitution A G intron_variant LIRI-JP 2 204009281 204009281 single base substitution T G intron_variant LIRI-JP 2 204009583 204009583 single base substitution A G synonymous_variant Q1674Q 5022A>G LIRI-JP 2 204009648 204009648 single base substitution A C intron_variant LIRI-JP 2 204010458 204010458 single base substitution T C intron_variant LIRI-JP 2 204010963 204010963 single base substitution A G intron_variant LIRI-JP 2 204013150 204013150 single base substitution T C intron_variant LIRI-JP 2 204014131 204014131 single base substitution A G intron_variant LIRI-JP 2 204016273 204016273 single base substitution A C missense_variant K1821Q 5461A>C LIRI-JP 2 204017620 204017620 single base substitution G A intron_variant LIRI-JP 2 204022665 204022665 single base substitution A G intron_variant LIRI-JP 2 204023479 204023479 single base substitution T C intron_variant LIRI-JP 2 204025206 204025206 single base substitution C T intron_variant LIRI-JP 2 204025210 204025210 single base substitution T G intron_variant LIRI-JP 2 204031318 204031318 single base substitution G T intron_variant LIRI-JP 2 204031318 204031318 single base substitution G T upstream_gene_variant LIRI-JP 2 204031319 204031319 single base substitution G T intron_variant LIRI-JP 2 204031319 204031319 single base substitution G T upstream_gene_variant LIRI-JP 2 204031592 204031593 deletion of <=200bp TT - intron_variant LIRI-JP 2 204031592 204031593 deletion of <=200bp TT - upstream_gene_variant LIRI-JP 2 204031817 204031817 single base substitution A G intron_variant LIRI-JP 2 204031817 204031817 single base substitution A G upstream_gene_variant LIRI-JP 2 204031874 204031874 single base substitution G T intron_variant LIRI-JP 2 204031874 204031874 single base substitution G T upstream_gene_variant LIRI-JP 2 204032412 204032412 single base substitution A C intron_variant LIRI-JP 2 204032704 204032704 single base substitution T A intron_variant LIRI-JP 2 204035904 204035904 single base substitution C T intron_variant LIRI-JP 2 204038734 204038734 single base substitution A G intron_variant LIRI-JP 2 204039722 204039722 single base substitution A G intron_variant LIRI-JP 2 204041385 204041385 single base substitution G T intron_variant LIRI-JP 2 204041385 204041385 single base substitution G T upstream_gene_variant LIRI-JP 2 204044073 204044073 single base substitution G A intron_variant LIRI-JP 2 204044073 204044073 single base substitution G A upstream_gene_variant LIRI-JP 2 204044697 204044697 single base substitution A C intron_variant LIRI-JP 2 204044697 204044697 single base substitution A C upstream_gene_variant LIRI-JP 2 204045515 204045515 single base substitution A G intron_variant LIRI-JP 2 204045515 204045515 single base substitution A G upstream_gene_variant LIRI-JP 2 204045852 204045852 single base substitution A T exon_variant LIRI-JP 2 204045852 204045852 single base substitution A T intron_variant LIRI-JP 2 204047128 204047128 single base substitution A C exon_variant LIRI-JP 2 204047128 204047128 single base substitution A C intron_variant LIRI-JP 2 204047684 204047710 deletion of <=200bp GACTGTGTCCCTCTCATTATTTTAAGT - exon_variant LIRI-JP 2 204047684 204047710 deletion of <=200bp GACTGTGTCCCTCTCATTATTTTAAGT - intron_variant LIRI-JP 2 204048012 204048012 insertion of <=200bp - G exon_variant LIRI-JP 2 204048012 204048012 insertion of <=200bp - G frameshift_variant L188L? LIRI-JP 2 204048012 204048012 insertion of <=200bp - G frameshift_variant L2173L? LIRI-JP 2 204048985 204048985 single base substitution C A intron_variant LIRI-JP 2 204049038 204049038 single base substitution C G intron_variant LIRI-JP 2 204050986 204050986 single base substitution A G intron_variant LIRI-JP 2 204053033 204053033 single base substitution A G intron_variant LIRI-JP 2 204056115 204056115 single base substitution A G downstream_gene_variant LIRI-JP 2 204056115 204056115 single base substitution A G intron_variant LIRI-JP 2 204056967 204056967 single base substitution A G downstream_gene_variant LIRI-JP 2 204056967 204056967 single base substitution A G intron_variant LIRI-JP 2 204058160 204058160 single base substitution A G downstream_gene_variant LIRI-JP 2 204058160 204058160 single base substitution A G intron_variant LIRI-JP 2 204058938 204058938 single base substitution G A downstream_gene_variant LIRI-JP 2 204058938 204058938 single base substitution G A intron_variant LIRI-JP 2 204059129 204059129 single base substitution A T downstream_gene_variant LIRI-JP 2 204059129 204059129 single base substitution A T intron_variant LIRI-JP 2 204060061 204060061 single base substitution A G downstream_gene_variant LIRI-JP 2 204060061 204060061 single base substitution A G intron_variant LIRI-JP 2 204061106 204061106 single base substitution T G intron_variant LIRI-JP 2 204061190 204061190 single base substitution A G intron_variant LIRI-JP 2 204061624 204061624 single base substitution A G intron_variant LIRI-JP 2 204062891 204062891 single base substitution A G intron_variant LIRI-JP 2 204067923 204067923 single base substitution G A intron_variant LIRI-JP 2 204068505 204068505 single base substitution A G intron_variant LIRI-JP 2 204068505 204068505 single base substitution A G upstream_gene_variant LIRI-JP 2 204068683 204068683 single base substitution C G intron_variant LIRI-JP 2 204068683 204068683 single base substitution C G upstream_gene_variant LIRI-JP 2 204070868 204070868 single base substitution A G intron_variant LIRI-JP 2 204070868 204070868 single base substitution A G upstream_gene_variant LIRI-JP 2 204073093 204073093 single base substitution A G intron_variant LIRI-JP 2 204073093 204073093 single base substitution A G upstream_gene_variant LIRI-JP 2 204074396 204074396 single base substitution T C intron_variant LIRI-JP 2 204074769 204074769 single base substitution C G intron_variant LIRI-JP 2 204077185 204077185 single base substitution C T intron_variant LIRI-JP 2 204077587 204077587 single base substitution T C intron_variant LIRI-JP 2 204078729 204078729 single base substitution T A intron_variant LIRI-JP 2 204078873 204078873 single base substitution T A intron_variant LIRI-JP 2 204078874 204078874 single base substitution A T intron_variant LIRI-JP 2 204082220 204082220 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 204082220 204082220 single base substitution A G downstream_gene_variant LIRI-JP 2 204082220 204082220 single base substitution A G intron_variant LIRI-JP 2 204083207 204083207 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 204083207 204083207 single base substitution A G downstream_gene_variant LIRI-JP 2 204083207 204083207 single base substitution A G intron_variant LIRI-JP 2 204084916 204084916 single base substitution G T downstream_gene_variant LIRI-JP 2 204084916 204084916 single base substitution G T intron_variant LIRI-JP 2 204085997 204085997 single base substitution G A downstream_gene_variant LIRI-JP 2 204085997 204085997 single base substitution G A intron_variant LIRI-JP 2 204088012 204088012 single base substitution A G downstream_gene_variant LIRI-JP 2 204088012 204088012 single base substitution A G intron_variant LIRI-JP 2 204089321 204089321 single base substitution A G downstream_gene_variant LIRI-JP 2 204089321 204089321 single base substitution A G intron_variant LIRI-JP 2 204089716 204089716 single base substitution T G intron_variant LIRI-JP 2 204090832 204090832 single base substitution A G intron_variant LIRI-JP 2 204091406 204091406 single base substitution A G downstream_gene_variant LIRI-JP 2 204091850 204091850 single base substitution C G downstream_gene_variant LIRI-JP 2 204094621 204094621 single base substitution T C downstream_gene_variant LIRI-JP 2 204095083 204095083 single base substitution G A downstream_gene_variant LUSC-KR 2 203878720 203878720 single base substitution G T upstream_gene_variant LUSC-KR 2 203878850 203878850 single base substitution T C upstream_gene_variant LUSC-KR 2 203879199 203879199 single base substitution C G upstream_gene_variant LUSC-KR 2 203891321 203891321 single base substitution T C intron_variant LUSC-KR 2 203899026 203899026 single base substitution G T intron_variant LUSC-KR 2 203903017 203903017 single base substitution C G intron_variant LUSC-KR 2 203904236 203904236 single base substitution C G intron_variant LUSC-KR 2 203904678 203904678 single base substitution G T intron_variant LUSC-KR 2 203916650 203916650 single base substitution C T downstream_gene_variant LUSC-KR 2 203916650 203916650 single base substitution C T intron_variant LUSC-KR 2 203917064 203917064 single base substitution G A downstream_gene_variant LUSC-KR 2 203917064 203917064 single base substitution G A intron_variant LUSC-KR 2 203922430 203922430 single base substitution G T intron_variant LUSC-KR 2 203925319 203925319 single base substitution A T intron_variant LUSC-KR 2 203928818 203928818 single base substitution C T downstream_gene_variant LUSC-KR 2 203928818 203928818 single base substitution C T intron_variant LUSC-KR 2 203931232 203931232 single base substitution C G downstream_gene_variant LUSC-KR 2 203931232 203931232 single base substitution C G intron_variant LUSC-KR 2 203931685 203931685 single base substitution A C downstream_gene_variant LUSC-KR 2 203931685 203931685 single base substitution A C intron_variant LUSC-KR 2 203932375 203932375 single base substitution G T intron_variant LUSC-KR 2 203933757 203933757 single base substitution G T intron_variant LUSC-KR 2 203935527 203935527 single base substitution T C intron_variant LUSC-KR 2 203941124 203941124 single base substitution C T intron_variant LUSC-KR 2 203942575 203942575 single base substitution G C intron_variant LUSC-KR 2 203947512 203947512 single base substitution C T intron_variant LUSC-KR 2 203947512 203947512 single base substitution C T upstream_gene_variant LUSC-KR 2 203950052 203950052 single base substitution C T downstream_gene_variant LUSC-KR 2 203950052 203950052 single base substitution C T exon_variant LUSC-KR 2 203950052 203950052 single base substitution C T intron_variant LUSC-KR 2 203953454 203953454 single base substitution A G downstream_gene_variant LUSC-KR 2 203953454 203953454 single base substitution A G intron_variant LUSC-KR 2 203955059 203955059 single base substitution G A downstream_gene_variant LUSC-KR 2 203955059 203955059 single base substitution G A intron_variant LUSC-KR 2 203956306 203956306 single base substitution A T intron_variant LUSC-KR 2 203959631 203959631 single base substitution G T intron_variant LUSC-KR 2 203959632 203959632 single base substitution G T intron_variant LUSC-KR 2 203963678 203963678 single base substitution G T downstream_gene_variant LUSC-KR 2 203963678 203963678 single base substitution G T intron_variant LUSC-KR 2 203963932 203963932 single base substitution G A downstream_gene_variant LUSC-KR 2 203963932 203963932 single base substitution G A intron_variant LUSC-KR 2 203966877 203966877 single base substitution G T downstream_gene_variant LUSC-KR 2 203966877 203966877 single base substitution G T intron_variant LUSC-KR 2 203970613 203970613 single base substitution G A intron_variant LUSC-KR 2 203976187 203976187 single base substitution G T intron_variant LUSC-KR 2 203977419 203977419 single base substitution T C intron_variant LUSC-KR 2 203985766 203985766 single base substitution A G intron_variant LUSC-KR 2 203986301 203986301 single base substitution G T intron_variant LUSC-KR 2 203986554 203986554 single base substitution G C intron_variant LUSC-KR 2 203996720 203996720 single base substitution A C missense_variant T1168P 3502A>C LUSC-KR 2 204003043 204003043 single base substitution A G splice_region_variant LUSC-KR 2 204004316 204004316 single base substitution G T intron_variant LUSC-KR 2 204004379 204004379 single base substitution C A intron_variant LUSC-KR 2 204006334 204006334 single base substitution G T intron_variant LUSC-KR 2 204006388 204006388 single base substitution G C intron_variant LUSC-KR 2 204008662 204008662 single base substitution C G intron_variant LUSC-KR 2 204010967 204010967 single base substitution A T intron_variant LUSC-KR 2 204016266 204016266 single base substitution T C synonymous_variant Y1818Y 5454T>C LUSC-KR 2 204017171 204017171 single base substitution G T intron_variant LUSC-KR 2 204017289 204017289 single base substitution G A intron_variant LUSC-KR 2 204017962 204017962 single base substitution C T intron_variant LUSC-KR 2 204018045 204018045 single base substitution G T intron_variant LUSC-KR 2 204019328 204019328 single base substitution T A intron_variant LUSC-KR 2 204019330 204019330 single base substitution A T intron_variant LUSC-KR 2 204023044 204023044 single base substitution G C intron_variant LUSC-KR 2 204024004 204024004 single base substitution C T intron_variant LUSC-KR 2 204025191 204025191 single base substitution C G intron_variant LUSC-KR 2 204025455 204025455 single base substitution C T intron_variant LUSC-KR 2 204028083 204028083 single base substitution G C intron_variant LUSC-KR 2 204028083 204028083 single base substitution G C upstream_gene_variant LUSC-KR 2 204028956 204028956 single base substitution C T intron_variant LUSC-KR 2 204028956 204028956 single base substitution C T upstream_gene_variant LUSC-KR 2 204029491 204029491 single base substitution G A intron_variant LUSC-KR 2 204029491 204029491 single base substitution G A upstream_gene_variant LUSC-KR 2 204031287 204031287 single base substitution G A intron_variant LUSC-KR 2 204031287 204031287 single base substitution G A upstream_gene_variant LUSC-KR 2 204035354 204035354 single base substitution C G intron_variant LUSC-KR 2 204038255 204038255 single base substitution G A intron_variant LUSC-KR 2 204038886 204038886 single base substitution C T intron_variant LUSC-KR 2 204040206 204040206 single base substitution G A intron_variant LUSC-KR 2 204041641 204041641 single base substitution A C intron_variant LUSC-KR 2 204041641 204041641 single base substitution A C upstream_gene_variant LUSC-KR 2 204045978 204045978 single base substitution G T exon_variant LUSC-KR 2 204045978 204045978 single base substitution G T intron_variant LUSC-KR 2 204047715 204047715 single base substitution G C exon_variant LUSC-KR 2 204047715 204047715 single base substitution G C intron_variant LUSC-KR 2 204050752 204050752 single base substitution A T intron_variant LUSC-KR 2 204055455 204055455 single base substitution C G exon_variant LUSC-KR 2 204055455 204055455 single base substitution C G intron_variant LUSC-KR 2 204055698 204055698 single base substitution A G exon_variant LUSC-KR 2 204055698 204055698 single base substitution A G intron_variant LUSC-KR 2 204055840 204055840 single base substitution T C exon_variant LUSC-KR 2 204055840 204055840 single base substitution T C intron_variant LUSC-KR 2 204055851 204055851 single base substitution C T exon_variant LUSC-KR 2 204055851 204055851 single base substitution C T intron_variant LUSC-KR 2 204055916 204055916 single base substitution T A exon_variant LUSC-KR 2 204055916 204055916 single base substitution T A intron_variant LUSC-KR 2 204057690 204057690 single base substitution T C downstream_gene_variant LUSC-KR 2 204057690 204057690 single base substitution T C intron_variant LUSC-KR 2 204060289 204060289 single base substitution C G downstream_gene_variant LUSC-KR 2 204060289 204060289 single base substitution C G intron_variant LUSC-KR 2 204066871 204066871 single base substitution G A intron_variant LUSC-KR 2 204069066 204069066 single base substitution G T intron_variant LUSC-KR 2 204069066 204069066 single base substitution G T upstream_gene_variant LUSC-KR 2 204075172 204075172 single base substitution C T intron_variant LUSC-KR 2 204077329 204077329 single base substitution C A intron_variant LUSC-KR 2 204078132 204078132 single base substitution A C intron_variant LUSC-KR 2 204080554 204080554 single base substitution C T intron_variant LUSC-KR 2 204082105 204082105 single base substitution A T 3_prime_UTR_variant LUSC-KR 2 204082105 204082105 single base substitution A T intron_variant LUSC-KR 2 204082940 204082940 single base substitution G T 3_prime_UTR_variant LUSC-KR 2 204082940 204082940 single base substitution G T downstream_gene_variant LUSC-KR 2 204082940 204082940 single base substitution G T intron_variant LUSC-KR 2 204094096 204094096 single base substitution G T downstream_gene_variant LUSC-US 2 204032030 204032030 single base substitution C T missense_variant L1953F 5857C>T LUSC-US 2 204032030 204032030 single base substitution C T upstream_gene_variant LUSC-US 2 204066306 204066306 single base substitution G C missense_variant E2398Q 7192G>C LUSC-US 2 204066306 204066306 single base substitution G C missense_variant E413Q 1237G>C LUSC-US 2 204078285 204078285 single base substitution A G missense_variant H158R 473A>G LUSC-US 2 204078285 204078285 single base substitution A G missense_variant H2631R 7892A>G LUSC-US 2 204078285 204078285 single base substitution A G missense_variant H646R 1937A>G MALY-DE 2 203878080 203878080 single base substitution C T upstream_gene_variant MALY-DE 2 203888214 203888214 single base substitution C A intron_variant MALY-DE 2 203891226 203891226 single base substitution T A intron_variant MALY-DE 2 203894479 203894479 single base substitution A G intron_variant MALY-DE 2 203895345 203895345 single base substitution C T intron_variant MALY-DE 2 203900040 203900040 single base substitution G T intron_variant MALY-DE 2 203900297 203900297 single base substitution G A intron_variant MALY-DE 2 203913834 203913834 single base substitution A C intron_variant MALY-DE 2 203916206 203916206 single base substitution T A downstream_gene_variant MALY-DE 2 203916206 203916206 single base substitution T A intron_variant MALY-DE 2 203916886 203916886 single base substitution T C downstream_gene_variant MALY-DE 2 203916886 203916886 single base substitution T C intron_variant MALY-DE 2 203929355 203929355 single base substitution A T downstream_gene_variant MALY-DE 2 203929355 203929355 single base substitution A T intron_variant MALY-DE 2 203937127 203937127 single base substitution T G intron_variant MALY-DE 2 203973759 203973759 single base substitution T G intron_variant MALY-DE 2 203979094 203979094 single base substitution A C intron_variant MALY-DE 2 203980219 203980219 single base substitution C T intron_variant MALY-DE 2 203988163 203988163 single base substitution C T intron_variant MALY-DE 2 203989378 203989378 single base substitution T G intron_variant MALY-DE 2 203992511 203992511 single base substitution T A missense_variant C1057S 3169T>A MALY-DE 2 203997112 203997112 single base substitution A C intron_variant MALY-DE 2 204007753 204007753 single base substitution G T intron_variant MALY-DE 2 204023995 204023995 single base substitution T A intron_variant MALY-DE 2 204025234 204025234 single base substitution A G intron_variant MALY-DE 2 204034124 204034124 single base substitution A T intron_variant MALY-DE 2 204044510 204044510 deletion of <=200bp T - intron_variant MALY-DE 2 204044510 204044510 deletion of <=200bp T - upstream_gene_variant MALY-DE 2 204048724 204048724 single base substitution C A intron_variant MALY-DE 2 204053728 204053728 single base substitution C A intron_variant MALY-DE 2 204059161 204059161 single base substitution G A downstream_gene_variant MALY-DE 2 204059161 204059161 single base substitution G A intron_variant MALY-DE 2 204070683 204070683 single base substitution G C intron_variant MALY-DE 2 204070683 204070683 single base substitution G C upstream_gene_variant MALY-DE 2 204073152 204073152 single base substitution G T intron_variant MALY-DE 2 204073152 204073152 single base substitution G T upstream_gene_variant MALY-DE 2 204076074 204076074 single base substitution A T intron_variant MALY-DE 2 204082287 204082287 single base substitution A T 3_prime_UTR_variant MALY-DE 2 204082287 204082287 single base substitution A T downstream_gene_variant MALY-DE 2 204082287 204082287 single base substitution A T intron_variant MALY-DE 2 204082921 204082921 single base substitution T C 3_prime_UTR_variant MALY-DE 2 204082921 204082921 single base substitution T C downstream_gene_variant MALY-DE 2 204082921 204082921 single base substitution T C intron_variant MALY-DE 2 204083059 204083059 single base substitution G T 3_prime_UTR_variant MALY-DE 2 204083059 204083059 single base substitution G T downstream_gene_variant MALY-DE 2 204083059 204083059 single base substitution G T intron_variant MALY-DE 2 204083113 204083113 single base substitution A G 3_prime_UTR_variant MALY-DE 2 204083113 204083113 single base substitution A G downstream_gene_variant MALY-DE 2 204083113 204083113 single base substitution A G intron_variant MALY-DE 2 204090671 204090671 single base substitution G A intron_variant MALY-DE 2 204091723 204091723 single base substitution C T downstream_gene_variant MELA-AU 2 203875114 203875114 single base substitution G A upstream_gene_variant MELA-AU 2 203875478 203875478 single base substitution C T upstream_gene_variant MELA-AU 2 203875577 203875577 single base substitution G A upstream_gene_variant MELA-AU 2 203876243 203876243 single base substitution G A upstream_gene_variant MELA-AU 2 203876583 203876583 single base substitution C T upstream_gene_variant MELA-AU 2 203876613 203876613 single base substitution G A upstream_gene_variant MELA-AU 2 203876868 203876868 single base substitution C T upstream_gene_variant MELA-AU 2 203877109 203877109 single base substitution C T upstream_gene_variant MELA-AU 2 203877182 203877182 single base substitution G A upstream_gene_variant MELA-AU 2 203877288 203877288 single base substitution G A upstream_gene_variant MELA-AU 2 203877562 203877562 single base substitution G A upstream_gene_variant MELA-AU 2 203877717 203877717 single base substitution G A upstream_gene_variant MELA-AU 2 203877747 203877747 single base substitution C T upstream_gene_variant MELA-AU 2 203878194 203878194 single base substitution C T upstream_gene_variant MELA-AU 2 203879298 203879298 single base substitution G A upstream_gene_variant MELA-AU 2 203879554 203879554 single base substitution C T upstream_gene_variant MELA-AU 2 203879560 203879560 single base substitution C T upstream_gene_variant MELA-AU 2 203879587 203879587 single base substitution C T upstream_gene_variant MELA-AU 2 203879819 203879819 single base substitution T G intron_variant MELA-AU 2 203879819 203879819 single base substitution T G upstream_gene_variant MELA-AU 2 203880138 203880138 single base substitution C T intron_variant MELA-AU 2 203880138 203880138 single base substitution C T upstream_gene_variant MELA-AU 2 203880601 203880601 single base substitution G A intron_variant MELA-AU 2 203880601 203880601 single base substitution G A upstream_gene_variant MELA-AU 2 203882032 203882032 single base substitution C T intron_variant MELA-AU 2 203882565 203882565 single base substitution C T intron_variant MELA-AU 2 203882819 203882819 single base substitution G A intron_variant MELA-AU 2 203888002 203888002 single base substitution C T intron_variant MELA-AU 2 203888377 203888377 single base substitution C T intron_variant MELA-AU 2 203889573 203889573 single base substitution A T intron_variant MELA-AU 2 203889659 203889659 single base substitution G A intron_variant MELA-AU 2 203889872 203889872 single base substitution C T intron_variant MELA-AU 2 203889884 203889885 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 203890909 203890909 single base substitution G A intron_variant MELA-AU 2 203891547 203891547 single base substitution C T intron_variant MELA-AU 2 203891889 203891889 single base substitution C T intron_variant MELA-AU 2 203891941 203891941 single base substitution C T intron_variant MELA-AU 2 203891969 203891969 single base substitution G A intron_variant MELA-AU 2 203892052 203892052 single base substitution C T intron_variant MELA-AU 2 203892078 203892078 single base substitution C T intron_variant MELA-AU 2 203892498 203892498 single base substitution C T intron_variant MELA-AU 2 203892622 203892622 single base substitution T G intron_variant MELA-AU 2 203892638 203892638 single base substitution C T intron_variant MELA-AU 2 203892863 203892863 single base substitution C T intron_variant MELA-AU 2 203892944 203892944 single base substitution T G intron_variant MELA-AU 2 203892947 203892947 single base substitution C T intron_variant MELA-AU 2 203893509 203893509 single base substitution C T intron_variant MELA-AU 2 203893699 203893699 single base substitution C T intron_variant MELA-AU 2 203894305 203894305 single base substitution C T intron_variant MELA-AU 2 203895243 203895243 single base substitution C T intron_variant MELA-AU 2 203895785 203895785 single base substitution G A intron_variant MELA-AU 2 203895914 203895914 single base substitution C T intron_variant MELA-AU 2 203896269 203896269 single base substitution C T intron_variant MELA-AU 2 203897758 203897758 single base substitution C T intron_variant MELA-AU 2 203898416 203898416 single base substitution A T intron_variant MELA-AU 2 203899923 203899923 single base substitution A T intron_variant MELA-AU 2 203900807 203900807 single base substitution C A intron_variant MELA-AU 2 203901442 203901442 single base substitution C T intron_variant MELA-AU 2 203903395 203903395 single base substitution A T intron_variant MELA-AU 2 203905840 203905840 single base substitution C T intron_variant MELA-AU 2 203905968 203905968 single base substitution C T intron_variant MELA-AU 2 203907285 203907285 single base substitution C T downstream_gene_variant MELA-AU 2 203907285 203907285 single base substitution C T intron_variant MELA-AU 2 203907602 203907602 single base substitution C T downstream_gene_variant MELA-AU 2 203907602 203907602 single base substitution C T intron_variant MELA-AU 2 203908292 203908292 single base substitution C T downstream_gene_variant MELA-AU 2 203908292 203908292 single base substitution C T intron_variant MELA-AU 2 203909054 203909054 single base substitution C T downstream_gene_variant MELA-AU 2 203909054 203909054 single base substitution C T intron_variant MELA-AU 2 203909899 203909899 single base substitution T A downstream_gene_variant MELA-AU 2 203909899 203909899 single base substitution T A intron_variant MELA-AU 2 203910270 203910270 single base substitution C T downstream_gene_variant MELA-AU 2 203910270 203910270 single base substitution C T intron_variant MELA-AU 2 203910447 203910447 single base substitution T C downstream_gene_variant MELA-AU 2 203910447 203910447 single base substitution T C intron_variant MELA-AU 2 203911023 203911023 single base substitution C T downstream_gene_variant MELA-AU 2 203911023 203911023 single base substitution C T intron_variant MELA-AU 2 203911356 203911356 single base substitution C T downstream_gene_variant MELA-AU 2 203911356 203911356 single base substitution C T intron_variant MELA-AU 2 203911661 203911661 single base substitution G A intron_variant MELA-AU 2 203911695 203911695 single base substitution C T intron_variant MELA-AU 2 203912685 203912685 single base substitution C T intron_variant MELA-AU 2 203912823 203912823 single base substitution G A intron_variant MELA-AU 2 203912852 203912853 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 2 203913227 203913227 single base substitution T G intron_variant MELA-AU 2 203913667 203913667 single base substitution C T intron_variant MELA-AU 2 203913815 203913815 single base substitution T A intron_variant MELA-AU 2 203914015 203914015 single base substitution C T intron_variant MELA-AU 2 203915021 203915021 single base substitution A T downstream_gene_variant MELA-AU 2 203915021 203915021 single base substitution A T intron_variant MELA-AU 2 203915130 203915130 single base substitution C T downstream_gene_variant MELA-AU 2 203915130 203915130 single base substitution C T intron_variant MELA-AU 2 203915478 203915478 single base substitution C T downstream_gene_variant MELA-AU 2 203915478 203915478 single base substitution C T intron_variant MELA-AU 2 203915805 203915805 single base substitution C T downstream_gene_variant MELA-AU 2 203915805 203915805 single base substitution C T intron_variant MELA-AU 2 203916006 203916007 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 203916006 203916007 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 203916252 203916252 single base substitution G A downstream_gene_variant MELA-AU 2 203916252 203916252 single base substitution G A intron_variant MELA-AU 2 203916412 203916412 single base substitution C T downstream_gene_variant MELA-AU 2 203916412 203916412 single base substitution C T intron_variant MELA-AU 2 203916761 203916761 single base substitution C T downstream_gene_variant MELA-AU 2 203916761 203916761 single base substitution C T intron_variant MELA-AU 2 203917228 203917228 single base substitution C T downstream_gene_variant MELA-AU 2 203917228 203917228 single base substitution C T intron_variant MELA-AU 2 203918366 203918366 single base substitution G A downstream_gene_variant MELA-AU 2 203918366 203918366 single base substitution G A intron_variant MELA-AU 2 203918435 203918435 single base substitution C T downstream_gene_variant MELA-AU 2 203918435 203918435 single base substitution C T intron_variant MELA-AU 2 203919668 203919668 single base substitution C T downstream_gene_variant MELA-AU 2 203919668 203919668 single base substitution C T intron_variant MELA-AU 2 203920020 203920020 single base substitution C T intron_variant MELA-AU 2 203920368 203920368 single base substitution T C intron_variant MELA-AU 2 203920830 203920830 single base substitution T G intron_variant MELA-AU 2 203921831 203921831 single base substitution C T intron_variant MELA-AU 2 203921841 203921841 single base substitution G A intron_variant MELA-AU 2 203922652 203922652 single base substitution C G intron_variant MELA-AU 2 203923163 203923163 single base substitution C T intron_variant MELA-AU 2 203923722 203923722 single base substitution C T intron_variant MELA-AU 2 203923916 203923916 single base substitution C T intron_variant MELA-AU 2 203924462 203924463 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 203925234 203925234 single base substitution C T intron_variant MELA-AU 2 203925662 203925662 single base substitution C T intron_variant MELA-AU 2 203925923 203925923 single base substitution G A intron_variant MELA-AU 2 203925971 203925971 single base substitution C T intron_variant MELA-AU 2 203926403 203926403 single base substitution C T intron_variant MELA-AU 2 203928537 203928537 single base substitution C T downstream_gene_variant MELA-AU 2 203928537 203928537 single base substitution C T intron_variant MELA-AU 2 203931236 203931236 single base substitution C T downstream_gene_variant MELA-AU 2 203931236 203931236 single base substitution C T intron_variant MELA-AU 2 203931251 203931251 single base substitution C T downstream_gene_variant MELA-AU 2 203931251 203931251 single base substitution C T intron_variant MELA-AU 2 203931646 203931646 single base substitution C T downstream_gene_variant MELA-AU 2 203931646 203931646 single base substitution C T intron_variant MELA-AU 2 203931830 203931830 single base substitution C T downstream_gene_variant MELA-AU 2 203931830 203931830 single base substitution C T intron_variant MELA-AU 2 203932242 203932242 single base substitution A G intron_variant MELA-AU 2 203932656 203932656 single base substitution C T intron_variant MELA-AU 2 203932819 203932819 single base substitution A T intron_variant MELA-AU 2 203933222 203933222 single base substitution T G intron_variant MELA-AU 2 203933475 203933475 single base substitution G A intron_variant MELA-AU 2 203933576 203933576 single base substitution C T intron_variant MELA-AU 2 203933940 203933940 single base substitution C T intron_variant MELA-AU 2 203935477 203935477 single base substitution T C intron_variant MELA-AU 2 203935756 203935756 single base substitution G A intron_variant MELA-AU 2 203936519 203936519 single base substitution C T intron_variant MELA-AU 2 203936959 203936959 single base substitution C T intron_variant MELA-AU 2 203937317 203937317 single base substitution C T intron_variant MELA-AU 2 203937435 203937436 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 203937558 203937558 single base substitution C T intron_variant MELA-AU 2 203937833 203937833 single base substitution C G intron_variant MELA-AU 2 203937995 203937995 single base substitution C T intron_variant MELA-AU 2 203938005 203938005 single base substitution T C intron_variant MELA-AU 2 203938444 203938444 single base substitution C T intron_variant MELA-AU 2 203938518 203938518 single base substitution C T intron_variant MELA-AU 2 203938656 203938656 single base substitution C T intron_variant MELA-AU 2 203939346 203939346 single base substitution C T intron_variant MELA-AU 2 203939419 203939419 single base substitution C T intron_variant MELA-AU 2 203940138 203940138 single base substitution A T intron_variant MELA-AU 2 203940921 203940921 single base substitution C T intron_variant MELA-AU 2 203940988 203940988 single base substitution C T intron_variant MELA-AU 2 203941187 203941187 single base substitution A T intron_variant MELA-AU 2 203943503 203943503 single base substitution C T intron_variant MELA-AU 2 203943503 203943503 single base substitution C T upstream_gene_variant MELA-AU 2 203943631 203943631 single base substitution C T intron_variant MELA-AU 2 203943631 203943631 single base substitution C T upstream_gene_variant MELA-AU 2 203944058 203944058 single base substitution G A intron_variant MELA-AU 2 203944058 203944058 single base substitution G A upstream_gene_variant MELA-AU 2 203944156 203944156 single base substitution A G intron_variant MELA-AU 2 203944156 203944156 single base substitution A G upstream_gene_variant MELA-AU 2 203944357 203944357 single base substitution A G intron_variant MELA-AU 2 203944357 203944357 single base substitution A G upstream_gene_variant MELA-AU 2 203944676 203944676 single base substitution C T intron_variant MELA-AU 2 203944676 203944676 single base substitution C T upstream_gene_variant MELA-AU 2 203945306 203945306 single base substitution C T intron_variant MELA-AU 2 203945306 203945306 single base substitution C T upstream_gene_variant MELA-AU 2 203945548 203945548 single base substitution C T intron_variant MELA-AU 2 203945548 203945548 single base substitution C T upstream_gene_variant MELA-AU 2 203946247 203946247 single base substitution C T intron_variant MELA-AU 2 203946247 203946247 single base substitution C T upstream_gene_variant MELA-AU 2 203947339 203947339 single base substitution C T intron_variant MELA-AU 2 203947339 203947339 single base substitution C T upstream_gene_variant MELA-AU 2 203947406 203947406 single base substitution C T intron_variant MELA-AU 2 203947406 203947406 single base substitution C T upstream_gene_variant MELA-AU 2 203948304 203948304 single base substitution C T intron_variant MELA-AU 2 203950134 203950134 single base substitution G A downstream_gene_variant MELA-AU 2 203950134 203950134 single base substitution G A exon_variant MELA-AU 2 203950134 203950134 single base substitution G A intron_variant MELA-AU 2 203950195 203950195 single base substitution C T downstream_gene_variant MELA-AU 2 203950195 203950195 single base substitution C T exon_variant MELA-AU 2 203950195 203950195 single base substitution C T intron_variant MELA-AU 2 203950569 203950569 single base substitution C T downstream_gene_variant MELA-AU 2 203950569 203950569 single base substitution C T exon_variant MELA-AU 2 203950569 203950569 single base substitution C T intron_variant MELA-AU 2 203950619 203950619 single base substitution C T downstream_gene_variant MELA-AU 2 203950619 203950619 single base substitution C T exon_variant MELA-AU 2 203950619 203950619 single base substitution C T intron_variant MELA-AU 2 203950714 203950714 single base substitution G A downstream_gene_variant MELA-AU 2 203950714 203950714 single base substitution G A exon_variant MELA-AU 2 203950714 203950714 single base substitution G A intron_variant MELA-AU 2 203951065 203951065 single base substitution C T downstream_gene_variant MELA-AU 2 203951065 203951065 single base substitution C T intron_variant MELA-AU 2 203951074 203951074 single base substitution A G downstream_gene_variant MELA-AU 2 203951074 203951074 single base substitution A G intron_variant MELA-AU 2 203951803 203951803 single base substitution C T downstream_gene_variant MELA-AU 2 203951803 203951803 single base substitution C T intron_variant MELA-AU 2 203951831 203951831 single base substitution T A downstream_gene_variant MELA-AU 2 203951831 203951831 single base substitution T A intron_variant MELA-AU 2 203952107 203952109 multiple base substitution (>=2bp and <=200bp) CCC TTA downstream_gene_variant MELA-AU 2 203952107 203952109 multiple base substitution (>=2bp and <=200bp) CCC TTA intron_variant MELA-AU 2 203952158 203952158 single base substitution C T downstream_gene_variant MELA-AU 2 203952158 203952158 single base substitution C T intron_variant MELA-AU 2 203952160 203952160 single base substitution T C downstream_gene_variant MELA-AU 2 203952160 203952160 single base substitution T C intron_variant MELA-AU 2 203952625 203952625 single base substitution C T downstream_gene_variant MELA-AU 2 203952625 203952625 single base substitution C T intron_variant MELA-AU 2 203953349 203953349 single base substitution T A downstream_gene_variant MELA-AU 2 203953349 203953349 single base substitution T A intron_variant MELA-AU 2 203953411 203953411 single base substitution C T downstream_gene_variant MELA-AU 2 203953411 203953411 single base substitution C T intron_variant MELA-AU 2 203953488 203953489 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU 2 203953488 203953489 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 2 203953812 203953812 single base substitution T G downstream_gene_variant MELA-AU 2 203953812 203953812 single base substitution T G intron_variant MELA-AU 2 203953915 203953915 single base substitution C T downstream_gene_variant MELA-AU 2 203953915 203953915 single base substitution C T intron_variant MELA-AU 2 203954217 203954217 single base substitution G A downstream_gene_variant MELA-AU 2 203954217 203954217 single base substitution G A intron_variant MELA-AU 2 203954585 203954585 single base substitution C T downstream_gene_variant MELA-AU 2 203954585 203954585 single base substitution C T intron_variant MELA-AU 2 203955081 203955081 single base substitution C T downstream_gene_variant MELA-AU 2 203955081 203955081 single base substitution C T intron_variant MELA-AU 2 203955746 203955746 single base substitution C T downstream_gene_variant MELA-AU 2 203955746 203955746 single base substitution C T intron_variant MELA-AU 2 203955943 203955943 single base substitution G A intron_variant MELA-AU 2 203956342 203956342 single base substitution C T intron_variant MELA-AU 2 203956347 203956347 single base substitution C T intron_variant MELA-AU 2 203956558 203956558 single base substitution C G intron_variant MELA-AU 2 203957389 203957389 single base substitution G A intron_variant MELA-AU 2 203957608 203957608 single base substitution A T intron_variant MELA-AU 2 203957673 203957673 single base substitution C T intron_variant MELA-AU 2 203957715 203957715 single base substitution G A intron_variant MELA-AU 2 203958634 203958634 single base substitution C T intron_variant MELA-AU 2 203959685 203959685 single base substitution A T intron_variant MELA-AU 2 203959730 203959730 single base substitution C T intron_variant MELA-AU 2 203959758 203959758 single base substitution A C intron_variant MELA-AU 2 203960080 203960080 single base substitution C G intron_variant MELA-AU 2 203960313 203960313 single base substitution C T intron_variant MELA-AU 2 203961196 203961196 single base substitution C T intron_variant MELA-AU 2 203961642 203961642 single base substitution C T intron_variant MELA-AU 2 203962442 203962442 single base substitution C T downstream_gene_variant MELA-AU 2 203962442 203962442 single base substitution C T intron_variant MELA-AU 2 203963762 203963762 single base substitution C T downstream_gene_variant MELA-AU 2 203963762 203963762 single base substitution C T intron_variant MELA-AU 2 203963994 203963994 single base substitution C T downstream_gene_variant MELA-AU 2 203963994 203963994 single base substitution C T intron_variant MELA-AU 2 203964192 203964192 single base substitution C T downstream_gene_variant MELA-AU 2 203964192 203964192 single base substitution C T intron_variant MELA-AU 2 203964608 203964608 single base substitution C T downstream_gene_variant MELA-AU 2 203964608 203964608 single base substitution C T intron_variant MELA-AU 2 203964671 203964671 single base substitution C T downstream_gene_variant MELA-AU 2 203964671 203964671 single base substitution C T intron_variant MELA-AU 2 203964746 203964746 single base substitution C T downstream_gene_variant MELA-AU 2 203964746 203964746 single base substitution C T intron_variant MELA-AU 2 203964973 203964973 single base substitution C T downstream_gene_variant MELA-AU 2 203964973 203964973 single base substitution C T intron_variant MELA-AU 2 203965497 203965497 single base substitution C T downstream_gene_variant MELA-AU 2 203965497 203965497 single base substitution C T intron_variant MELA-AU 2 203967594 203967594 single base substitution C T intron_variant MELA-AU 2 203968166 203968166 single base substitution C T intron_variant MELA-AU 2 203968608 203968608 single base substitution G T intron_variant MELA-AU 2 203969253 203969253 single base substitution C T intron_variant MELA-AU 2 203969254 203969254 single base substitution C T intron_variant MELA-AU 2 203969625 203969625 single base substitution C T intron_variant MELA-AU 2 203970061 203970061 single base substitution C T intron_variant MELA-AU 2 203970385 203970385 single base substitution C T intron_variant MELA-AU 2 203970826 203970826 single base substitution C T intron_variant MELA-AU 2 203970880 203970880 single base substitution C T intron_variant MELA-AU 2 203970990 203970990 single base substitution C T intron_variant MELA-AU 2 203971135 203971135 single base substitution C T intron_variant MELA-AU 2 203971185 203971185 single base substitution T A intron_variant MELA-AU 2 203971405 203971405 single base substitution C T intron_variant MELA-AU 2 203971556 203971556 single base substitution C T intron_variant MELA-AU 2 203971706 203971706 single base substitution C T intron_variant MELA-AU 2 203971720 203971720 single base substitution A G intron_variant MELA-AU 2 203971853 203971853 single base substitution T A intron_variant MELA-AU 2 203972195 203972195 single base substitution C T missense_variant S412F 1235C>T MELA-AU 2 203972592 203972592 single base substitution C T missense_variant H515Y 1543C>T MELA-AU 2 203973093 203973093 single base substitution T C intron_variant MELA-AU 2 203973324 203973324 single base substitution C T intron_variant MELA-AU 2 203973412 203973412 single base substitution C T intron_variant MELA-AU 2 203973954 203973954 single base substitution C T intron_variant MELA-AU 2 203974531 203974531 single base substitution C T intron_variant MELA-AU 2 203975439 203975439 single base substitution T A intron_variant MELA-AU 2 203975442 203975442 single base substitution A G intron_variant MELA-AU 2 203975692 203975692 single base substitution T C intron_variant MELA-AU 2 203976108 203976108 single base substitution C T intron_variant MELA-AU 2 203976321 203976321 single base substitution C T intron_variant MELA-AU 2 203976674 203976674 single base substitution C T intron_variant MELA-AU 2 203976996 203976996 single base substitution G A intron_variant MELA-AU 2 203977280 203977280 single base substitution C T intron_variant MELA-AU 2 203977563 203977563 single base substitution C T intron_variant MELA-AU 2 203977604 203977604 single base substitution A G intron_variant MELA-AU 2 203977761 203977761 single base substitution T C synonymous_variant G713G 2139T>C MELA-AU 2 203977906 203977906 single base substitution A C missense_variant I762L 2284A>C MELA-AU 2 203978676 203978676 single base substitution C T intron_variant MELA-AU 2 203979158 203979158 single base substitution C T intron_variant MELA-AU 2 203979814 203979814 single base substitution C T intron_variant MELA-AU 2 203980174 203980174 single base substitution T C intron_variant MELA-AU 2 203980506 203980506 single base substitution A G intron_variant MELA-AU 2 203980524 203980524 single base substitution C T intron_variant MELA-AU 2 203981167 203981170 deletion of <=200bp AAAG - intron_variant MELA-AU 2 203981883 203981883 single base substitution A G intron_variant MELA-AU 2 203981906 203981906 single base substitution C T intron_variant MELA-AU 2 203982286 203982286 single base substitution C T intron_variant MELA-AU 2 203982483 203982483 single base substitution T A intron_variant MELA-AU 2 203982537 203982538 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 2 203982910 203982910 single base substitution C T intron_variant MELA-AU 2 203983036 203983036 single base substitution C T intron_variant MELA-AU 2 203983117 203983118 multiple base substitution (>=2bp and <=200bp) TC AG intron_variant MELA-AU 2 203983153 203983153 single base substitution C T intron_variant MELA-AU 2 203983355 203983355 single base substitution C T intron_variant MELA-AU 2 203983424 203983424 single base substitution C T intron_variant MELA-AU 2 203983465 203983465 single base substitution C T intron_variant MELA-AU 2 203983510 203983510 single base substitution C T intron_variant MELA-AU 2 203985193 203985193 single base substitution C T intron_variant MELA-AU 2 203985209 203985209 single base substitution T G intron_variant MELA-AU 2 203986048 203986048 single base substitution C T intron_variant MELA-AU 2 203986126 203986126 single base substitution A C intron_variant MELA-AU 2 203986247 203986247 single base substitution C T intron_variant MELA-AU 2 203986393 203986393 single base substitution C T intron_variant MELA-AU 2 203986492 203986492 single base substitution C T intron_variant MELA-AU 2 203986821 203986821 single base substitution T C intron_variant MELA-AU 2 203986878 203986878 single base substitution C T intron_variant MELA-AU 2 203987770 203987770 single base substitution A G intron_variant MELA-AU 2 203988260 203988260 single base substitution T C intron_variant MELA-AU 2 203989892 203989892 single base substitution T C intron_variant MELA-AU 2 203989931 203989931 single base substitution T C intron_variant MELA-AU 2 203989979 203989979 single base substitution T C intron_variant MELA-AU 2 203990438 203990438 single base substitution C T intron_variant MELA-AU 2 203991024 203991024 single base substitution C T intron_variant MELA-AU 2 203991176 203991176 single base substitution C T intron_variant MELA-AU 2 203991428 203991428 single base substitution C T missense_variant P1016L 3047C>T MELA-AU 2 203991433 203991433 single base substitution C T stop_gained R1018* 3052C>T MELA-AU 2 203992055 203992055 single base substitution C T intron_variant MELA-AU 2 203992576 203992576 single base substitution T G missense_variant I1078M 3234T>G MELA-AU 2 203993163 203993163 single base substitution C T intron_variant MELA-AU 2 203993256 203993256 single base substitution C T intron_variant MELA-AU 2 203993989 203993989 single base substitution A C intron_variant MELA-AU 2 203994172 203994172 single base substitution C T intron_variant MELA-AU 2 203994672 203994672 single base substitution C T intron_variant MELA-AU 2 203995638 203995638 single base substitution T C intron_variant MELA-AU 2 203996020 203996020 single base substitution C T intron_variant MELA-AU 2 203996196 203996196 single base substitution C T intron_variant MELA-AU 2 203997550 203997550 single base substitution C T intron_variant MELA-AU 2 203997962 203997962 single base substitution C T intron_variant MELA-AU 2 203998177 203998177 single base substitution C T intron_variant MELA-AU 2 203998945 203998945 single base substitution C T intron_variant MELA-AU 2 204000390 204000390 single base substitution C T intron_variant MELA-AU 2 204000556 204000556 single base substitution G A missense_variant D1295N 3883G>A MELA-AU 2 204000709 204000709 single base substitution G A missense_variant E1346K 4036G>A MELA-AU 2 204000743 204000743 single base substitution C T missense_variant S1357L 4070C>T MELA-AU 2 204001205 204001206 multiple base substitution (>=2bp and <=200bp) AT TA intron_variant MELA-AU 2 204001316 204001316 single base substitution C T splice_region_variant MELA-AU 2 204001317 204001317 single base substitution C T splice_region_variant MELA-AU 2 204002042 204002042 single base substitution C T intron_variant MELA-AU 2 204002676 204002676 single base substitution C T intron_variant MELA-AU 2 204002966 204002966 single base substitution C T synonymous_variant F1520F 4560C>T MELA-AU 2 204003207 204003207 single base substitution C T intron_variant MELA-AU 2 204003479 204003479 single base substitution C T splice_region_variant MELA-AU 2 204003648 204003648 single base substitution C T intron_variant MELA-AU 2 204003656 204003656 single base substitution T A intron_variant MELA-AU 2 204003886 204003886 single base substitution T C intron_variant MELA-AU 2 204004378 204004378 single base substitution C T intron_variant MELA-AU 2 204004479 204004479 single base substitution G A intron_variant MELA-AU 2 204004507 204004507 single base substitution C T intron_variant MELA-AU 2 204004949 204004950 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 2 204005598 204005598 single base substitution A G intron_variant MELA-AU 2 204005656 204005656 single base substitution C T intron_variant MELA-AU 2 204006778 204006778 single base substitution C T intron_variant MELA-AU 2 204006796 204006796 single base substitution C T intron_variant MELA-AU 2 204007001 204007001 single base substitution C T intron_variant MELA-AU 2 204007557 204007557 single base substitution C T intron_variant MELA-AU 2 204007599 204007599 single base substitution A G intron_variant MELA-AU 2 204009017 204009017 single base substitution C T intron_variant MELA-AU 2 204009242 204009242 single base substitution C T intron_variant MELA-AU 2 204009473 204009473 single base substitution C T missense_variant P1638S 4912C>T MELA-AU 2 204010120 204010120 single base substitution C T intron_variant MELA-AU 2 204010222 204010222 single base substitution T G intron_variant MELA-AU 2 204010765 204010765 single base substitution C T intron_variant MELA-AU 2 204011767 204011768 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 204012290 204012290 single base substitution C T intron_variant MELA-AU 2 204012305 204012305 single base substitution A T intron_variant MELA-AU 2 204012820 204012820 single base substitution C T intron_variant MELA-AU 2 204012949 204012949 single base substitution T C intron_variant MELA-AU 2 204013248 204013248 single base substitution C T intron_variant MELA-AU 2 204013900 204013900 single base substitution C T intron_variant MELA-AU 2 204014464 204014464 single base substitution C T intron_variant MELA-AU 2 204014532 204014532 single base substitution T C intron_variant MELA-AU 2 204014663 204014663 single base substitution C T intron_variant MELA-AU 2 204014926 204014926 single base substitution C T intron_variant MELA-AU 2 204015242 204015242 single base substitution G A intron_variant MELA-AU 2 204016417 204016418 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 204016478 204016478 single base substitution C T intron_variant MELA-AU 2 204017195 204017195 single base substitution C T intron_variant MELA-AU 2 204017421 204017421 single base substitution C T intron_variant MELA-AU 2 204017597 204017597 single base substitution C T intron_variant MELA-AU 2 204018581 204018581 single base substitution C T intron_variant MELA-AU 2 204019557 204019557 single base substitution C T intron_variant MELA-AU 2 204019895 204019895 single base substitution C T intron_variant MELA-AU 2 204020113 204020113 single base substitution C T intron_variant MELA-AU 2 204020564 204020564 single base substitution C T intron_variant MELA-AU 2 204020665 204020665 single base substitution C T intron_variant MELA-AU 2 204020741 204020741 single base substitution C T intron_variant MELA-AU 2 204020941 204020941 single base substitution C T intron_variant MELA-AU 2 204021134 204021134 single base substitution A G intron_variant MELA-AU 2 204021196 204021196 single base substitution G A intron_variant MELA-AU 2 204021338 204021338 single base substitution C T intron_variant MELA-AU 2 204021360 204021360 single base substitution T C intron_variant MELA-AU 2 204021566 204021566 single base substitution A T intron_variant MELA-AU 2 204022426 204022426 single base substitution C T synonymous_variant I1835I 5505C>T MELA-AU 2 204022601 204022601 single base substitution C T intron_variant MELA-AU 2 204023573 204023573 single base substitution C T intron_variant MELA-AU 2 204023694 204023694 single base substitution C T intron_variant MELA-AU 2 204024038 204024038 single base substitution C T intron_variant MELA-AU 2 204024261 204024261 single base substitution C T intron_variant MELA-AU 2 204024296 204024296 single base substitution C T intron_variant MELA-AU 2 204024628 204024628 single base substitution C T intron_variant MELA-AU 2 204025046 204025046 single base substitution C T intron_variant MELA-AU 2 204025050 204025050 single base substitution C T intron_variant MELA-AU 2 204025274 204025274 single base substitution C T intron_variant MELA-AU 2 204025663 204025663 single base substitution C T intron_variant MELA-AU 2 204027226 204027226 single base substitution G A intron_variant MELA-AU 2 204027226 204027226 single base substitution G A upstream_gene_variant MELA-AU 2 204027874 204027874 single base substitution C T intron_variant MELA-AU 2 204027874 204027874 single base substitution C T upstream_gene_variant MELA-AU 2 204028112 204028112 single base substitution C T intron_variant MELA-AU 2 204028112 204028112 single base substitution C T upstream_gene_variant MELA-AU 2 204028303 204028303 single base substitution C T intron_variant MELA-AU 2 204028303 204028303 single base substitution C T upstream_gene_variant MELA-AU 2 204028362 204028362 single base substitution C T intron_variant MELA-AU 2 204028362 204028362 single base substitution C T upstream_gene_variant MELA-AU 2 204028843 204028843 single base substitution T A intron_variant MELA-AU 2 204028843 204028843 single base substitution T A upstream_gene_variant MELA-AU 2 204029189 204029189 single base substitution A C intron_variant MELA-AU 2 204029189 204029189 single base substitution A C upstream_gene_variant MELA-AU 2 204029735 204029735 single base substitution C T intron_variant MELA-AU 2 204029735 204029735 single base substitution C T upstream_gene_variant MELA-AU 2 204029842 204029842 single base substitution C T intron_variant MELA-AU 2 204029842 204029842 single base substitution C T upstream_gene_variant MELA-AU 2 204031490 204031490 single base substitution C T intron_variant MELA-AU 2 204031490 204031490 single base substitution C T upstream_gene_variant MELA-AU 2 204031856 204031856 single base substitution C T intron_variant MELA-AU 2 204031856 204031856 single base substitution C T upstream_gene_variant MELA-AU 2 204032569 204032569 single base substitution C T intron_variant MELA-AU 2 204032648 204032648 single base substitution C T intron_variant MELA-AU 2 204033090 204033090 single base substitution C T intron_variant MELA-AU 2 204033847 204033847 single base substitution C T intron_variant MELA-AU 2 204034590 204034590 single base substitution A G intron_variant MELA-AU 2 204034600 204034600 single base substitution G A intron_variant MELA-AU 2 204034641 204034641 single base substitution C A intron_variant MELA-AU 2 204034842 204034842 single base substitution C T intron_variant MELA-AU 2 204035205 204035205 single base substitution A T intron_variant MELA-AU 2 204035364 204035364 single base substitution C T intron_variant MELA-AU 2 204036319 204036319 single base substitution C T intron_variant MELA-AU 2 204036729 204036729 single base substitution C T intron_variant MELA-AU 2 204036729 204036729 single base substitution C T missense_variant L2032F 6094C>T MELA-AU 2 204037026 204037026 single base substitution C T intron_variant MELA-AU 2 204037375 204037375 single base substitution A G intron_variant MELA-AU 2 204037530 204037530 single base substitution C T missense_variant P2064S 6190C>T MELA-AU 2 204037530 204037530 single base substitution C T missense_variant P79S 235C>T MELA-AU 2 204037594 204037594 single base substitution C T intron_variant MELA-AU 2 204038154 204038154 single base substitution C T intron_variant MELA-AU 2 204038407 204038407 single base substitution C G intron_variant MELA-AU 2 204039604 204039604 single base substitution A T intron_variant MELA-AU 2 204039704 204039704 single base substitution C T intron_variant MELA-AU 2 204039789 204039789 single base substitution T A intron_variant MELA-AU 2 204041338 204041338 single base substitution C T intron_variant MELA-AU 2 204041338 204041338 single base substitution C T upstream_gene_variant MELA-AU 2 204041369 204041369 single base substitution C T intron_variant MELA-AU 2 204041369 204041369 single base substitution C T upstream_gene_variant MELA-AU 2 204041843 204041843 single base substitution C T intron_variant MELA-AU 2 204041843 204041843 single base substitution C T upstream_gene_variant MELA-AU 2 204042118 204042118 single base substitution G A intron_variant MELA-AU 2 204042118 204042118 single base substitution G A upstream_gene_variant MELA-AU 2 204042573 204042573 single base substitution C T intron_variant MELA-AU 2 204042573 204042573 single base substitution C T upstream_gene_variant MELA-AU 2 204042575 204042575 single base substitution C T intron_variant MELA-AU 2 204042575 204042575 single base substitution C T upstream_gene_variant MELA-AU 2 204042890 204042890 single base substitution C T intron_variant MELA-AU 2 204042890 204042890 single base substitution C T upstream_gene_variant MELA-AU 2 204044202 204044202 single base substitution C T intron_variant MELA-AU 2 204044202 204044202 single base substitution C T upstream_gene_variant MELA-AU 2 204044435 204044435 single base substitution C T intron_variant MELA-AU 2 204044435 204044435 single base substitution C T upstream_gene_variant MELA-AU 2 204044870 204044870 single base substitution C T intron_variant MELA-AU 2 204044870 204044870 single base substitution C T upstream_gene_variant MELA-AU 2 204045011 204045011 single base substitution C T intron_variant MELA-AU 2 204045011 204045011 single base substitution C T upstream_gene_variant MELA-AU 2 204045297 204045297 single base substitution C T intron_variant MELA-AU 2 204045297 204045297 single base substitution C T upstream_gene_variant MELA-AU 2 204046229 204046229 single base substitution C T exon_variant MELA-AU 2 204046229 204046229 single base substitution C T intron_variant MELA-AU 2 204046830 204046830 single base substitution C T exon_variant MELA-AU 2 204046830 204046830 single base substitution C T intron_variant MELA-AU 2 204047044 204047044 single base substitution C T exon_variant MELA-AU 2 204047044 204047044 single base substitution C T intron_variant MELA-AU 2 204047055 204047056 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 2 204047055 204047056 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 204047197 204047197 single base substitution G A exon_variant MELA-AU 2 204047197 204047197 single base substitution G A intron_variant MELA-AU 2 204047744 204047744 single base substitution G A exon_variant MELA-AU 2 204047744 204047744 single base substitution G A intron_variant MELA-AU 2 204048317 204048318 deletion of <=200bp AT - intron_variant MELA-AU 2 204048441 204048441 single base substitution C T intron_variant MELA-AU 2 204048541 204048541 single base substitution A T intron_variant MELA-AU 2 204048597 204048597 single base substitution C T intron_variant MELA-AU 2 204049081 204049081 single base substitution G A intron_variant MELA-AU 2 204049579 204049579 single base substitution G A intron_variant MELA-AU 2 204050178 204050178 single base substitution C T intron_variant MELA-AU 2 204050483 204050483 single base substitution T A intron_variant MELA-AU 2 204050485 204050485 single base substitution C T intron_variant MELA-AU 2 204050651 204050651 single base substitution A G intron_variant MELA-AU 2 204050739 204050739 single base substitution C T intron_variant MELA-AU 2 204050768 204050768 single base substitution G A intron_variant MELA-AU 2 204052371 204052371 single base substitution G A intron_variant MELA-AU 2 204052527 204052527 single base substitution C T intron_variant MELA-AU 2 204053738 204053738 single base substitution C T intron_variant MELA-AU 2 204053955 204053956 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 204055186 204055186 single base substitution G A exon_variant MELA-AU 2 204055186 204055186 single base substitution G A intron_variant MELA-AU 2 204055436 204055436 single base substitution G A exon_variant MELA-AU 2 204055436 204055436 single base substitution G A intron_variant MELA-AU 2 204055579 204055579 single base substitution C T exon_variant MELA-AU 2 204055579 204055579 single base substitution C T intron_variant MELA-AU 2 204055598 204055598 single base substitution C T exon_variant MELA-AU 2 204055598 204055598 single base substitution C T intron_variant MELA-AU 2 204057425 204057425 single base substitution T A downstream_gene_variant MELA-AU 2 204057425 204057425 single base substitution T A intron_variant MELA-AU 2 204057776 204057776 single base substitution C T downstream_gene_variant MELA-AU 2 204057776 204057776 single base substitution C T intron_variant MELA-AU 2 204058373 204058373 single base substitution G A downstream_gene_variant MELA-AU 2 204058373 204058373 single base substitution G A intron_variant MELA-AU 2 204058862 204058862 single base substitution C T downstream_gene_variant MELA-AU 2 204058862 204058862 single base substitution C T intron_variant MELA-AU 2 204060544 204060544 single base substitution C T downstream_gene_variant MELA-AU 2 204060544 204060544 single base substitution C T intron_variant MELA-AU 2 204060582 204060582 single base substitution C T downstream_gene_variant MELA-AU 2 204060582 204060582 single base substitution C T intron_variant MELA-AU 2 204061156 204061156 single base substitution C T intron_variant MELA-AU 2 204061229 204061229 single base substitution C T intron_variant MELA-AU 2 204061533 204061533 single base substitution C T intron_variant MELA-AU 2 204061942 204061942 single base substitution C T intron_variant MELA-AU 2 204063289 204063289 single base substitution C T intron_variant MELA-AU 2 204063337 204063337 single base substitution C T intron_variant MELA-AU 2 204064142 204064142 single base substitution A G missense_variant I2375V 7123A>G MELA-AU 2 204064142 204064142 single base substitution A G missense_variant I390V 1168A>G MELA-AU 2 204064697 204064697 single base substitution G C intron_variant MELA-AU 2 204064707 204064707 single base substitution G A intron_variant MELA-AU 2 204065354 204065354 single base substitution T C intron_variant MELA-AU 2 204066837 204066837 single base substitution A G intron_variant MELA-AU 2 204067160 204067160 single base substitution C T intron_variant MELA-AU 2 204067397 204067397 single base substitution C T intron_variant MELA-AU 2 204067721 204067721 single base substitution C T intron_variant MELA-AU 2 204067952 204067953 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 204067955 204067956 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 204068124 204068124 single base substitution C T intron_variant MELA-AU 2 204069176 204069176 single base substitution C T intron_variant MELA-AU 2 204069176 204069176 single base substitution C T upstream_gene_variant MELA-AU 2 204069298 204069298 single base substitution C G intron_variant MELA-AU 2 204069298 204069298 single base substitution C G upstream_gene_variant MELA-AU 2 204071103 204071103 single base substitution C T intron_variant MELA-AU 2 204071103 204071103 single base substitution C T upstream_gene_variant MELA-AU 2 204071729 204071729 single base substitution G A intron_variant MELA-AU 2 204071729 204071729 single base substitution G A upstream_gene_variant MELA-AU 2 204072753 204072753 single base substitution C T intron_variant MELA-AU 2 204072753 204072753 single base substitution C T upstream_gene_variant MELA-AU 2 204072842 204072842 insertion of <=200bp - C intron_variant MELA-AU 2 204072842 204072842 insertion of <=200bp - C upstream_gene_variant MELA-AU 2 204073864 204073864 single base substitution C T intron_variant MELA-AU 2 204074096 204074096 single base substitution C T intron_variant MELA-AU 2 204074188 204074188 single base substitution C T intron_variant MELA-AU 2 204075438 204075438 single base substitution G A intron_variant MELA-AU 2 204076167 204076167 single base substitution C T intron_variant MELA-AU 2 204076343 204076343 single base substitution G A intron_variant MELA-AU 2 204076437 204076437 single base substitution G A intron_variant MELA-AU 2 204076484 204076484 single base substitution C A intron_variant MELA-AU 2 204076996 204076996 single base substitution C T intron_variant MELA-AU 2 204077284 204077284 single base substitution C T intron_variant MELA-AU 2 204078046 204078046 single base substitution C T intron_variant MELA-AU 2 204078283 204078283 single base substitution C T synonymous_variant I157I 471C>T MELA-AU 2 204078283 204078283 single base substitution C T synonymous_variant I2630I 7890C>T MELA-AU 2 204078283 204078283 single base substitution C T synonymous_variant I645I 1935C>T MELA-AU 2 204079062 204079062 single base substitution G A intron_variant MELA-AU 2 204079111 204079111 single base substitution C T intron_variant MELA-AU 2 204079420 204079420 single base substitution C T intron_variant MELA-AU 2 204080183 204080183 single base substitution G A intron_variant MELA-AU 2 204081096 204081096 single base substitution C T intron_variant MELA-AU 2 204082179 204082179 single base substitution C T 3_prime_UTR_variant MELA-AU 2 204082179 204082179 single base substitution C T intron_variant MELA-AU 2 204082183 204082183 single base substitution A T 3_prime_UTR_variant MELA-AU 2 204082183 204082183 single base substitution A T intron_variant MELA-AU 2 204082188 204082188 single base substitution C T 3_prime_UTR_variant MELA-AU 2 204082188 204082188 single base substitution C T downstream_gene_variant MELA-AU 2 204082188 204082188 single base substitution C T intron_variant MELA-AU 2 204082355 204082355 single base substitution T A 3_prime_UTR_variant MELA-AU 2 204082355 204082355 single base substitution T A downstream_gene_variant MELA-AU 2 204082355 204082355 single base substitution T A intron_variant MELA-AU 2 204084114 204084114 single base substitution T A 3_prime_UTR_variant MELA-AU 2 204084114 204084114 single base substitution T A downstream_gene_variant MELA-AU 2 204084114 204084114 single base substitution T A intron_variant MELA-AU 2 204084763 204084763 single base substitution G A downstream_gene_variant MELA-AU 2 204084763 204084763 single base substitution G A intron_variant MELA-AU 2 204084781 204084781 single base substitution C T downstream_gene_variant MELA-AU 2 204084781 204084781 single base substitution C T intron_variant MELA-AU 2 204084853 204084853 single base substitution G A downstream_gene_variant MELA-AU 2 204084853 204084853 single base substitution G A intron_variant MELA-AU 2 204085735 204085735 single base substitution C T downstream_gene_variant MELA-AU 2 204085735 204085735 single base substitution C T intron_variant MELA-AU 2 204085808 204085808 single base substitution C T downstream_gene_variant MELA-AU 2 204085808 204085808 single base substitution C T intron_variant MELA-AU 2 204087131 204087131 single base substitution C T downstream_gene_variant MELA-AU 2 204087131 204087131 single base substitution C T intron_variant MELA-AU 2 204087656 204087656 single base substitution C T downstream_gene_variant MELA-AU 2 204087656 204087656 single base substitution C T intron_variant MELA-AU 2 204087995 204087995 single base substitution A T downstream_gene_variant MELA-AU 2 204087995 204087995 single base substitution A T intron_variant MELA-AU 2 204088219 204088219 single base substitution C T downstream_gene_variant MELA-AU 2 204088219 204088219 single base substitution C T intron_variant MELA-AU 2 204089058 204089058 single base substitution A C downstream_gene_variant MELA-AU 2 204089058 204089058 single base substitution A C intron_variant MELA-AU 2 204089939 204089939 single base substitution C T intron_variant MELA-AU 2 204091459 204091459 single base substitution T G downstream_gene_variant MELA-AU 2 204091934 204091934 single base substitution C T downstream_gene_variant MELA-AU 2 204092155 204092155 single base substitution G A downstream_gene_variant MELA-AU 2 204092687 204092687 single base substitution C T downstream_gene_variant MELA-AU 2 204093255 204093255 single base substitution C T downstream_gene_variant MELA-AU 2 204093415 204093415 single base substitution C T downstream_gene_variant MELA-AU 2 204093591 204093591 single base substitution C T downstream_gene_variant MELA-AU 2 204093769 204093769 single base substitution C T downstream_gene_variant MELA-AU 2 204093786 204093786 single base substitution C T downstream_gene_variant MELA-AU 2 204093932 204093932 single base substitution C T downstream_gene_variant MELA-AU 2 204094225 204094225 single base substitution C T downstream_gene_variant MELA-AU 2 204094631 204094631 single base substitution C T downstream_gene_variant MELA-AU 2 204094868 204094868 single base substitution C T downstream_gene_variant MELA-AU 2 204095004 204095004 single base substitution C T downstream_gene_variant MELA-AU 2 204095046 204095046 single base substitution T C downstream_gene_variant MELA-AU 2 204095234 204095234 single base substitution G A downstream_gene_variant MELA-AU 2 204095409 204095409 single base substitution C T downstream_gene_variant MELA-AU 2 204095619 204095619 single base substitution C T downstream_gene_variant MELA-AU 2 204095645 204095645 single base substitution G A downstream_gene_variant ORCA-IN 2 203886976 203886976 single base substitution C T intron_variant ORCA-IN 2 203940820 203940820 single base substitution G C intron_variant ORCA-IN 2 203944255 203944255 single base substitution C T intron_variant ORCA-IN 2 203944255 203944255 single base substitution C T upstream_gene_variant ORCA-IN 2 204015790 204015790 single base substitution C G intron_variant ORCA-IN 2 204027042 204027042 single base substitution C T intron_variant ORCA-IN 2 204027042 204027042 single base substitution C T upstream_gene_variant ORCA-IN 2 204032937 204032937 single base substitution G A intron_variant ORCA-IN 2 204044499 204044499 single base substitution G A intron_variant ORCA-IN 2 204044499 204044499 single base substitution G A upstream_gene_variant ORCA-IN 2 204054568 204054568 single base substitution A G intron_variant ORCA-IN 2 204068478 204068478 single base substitution T C intron_variant ORCA-IN 2 204068478 204068478 single base substitution T C upstream_gene_variant ORCA-IN 2 204075447 204075447 single base substitution G A intron_variant OV-AU 2 203877378 203877378 single base substitution G T upstream_gene_variant OV-AU 2 203877385 203877385 single base substitution A G upstream_gene_variant OV-AU 2 203891378 203891378 single base substitution C A intron_variant OV-AU 2 203891465 203891465 single base substitution T G intron_variant OV-AU 2 203893710 203893710 single base substitution C T intron_variant OV-AU 2 203895495 203895495 single base substitution G A intron_variant OV-AU 2 203895888 203895888 single base substitution A C intron_variant OV-AU 2 203899349 203899349 single base substitution G T intron_variant OV-AU 2 203909312 203909312 single base substitution G A downstream_gene_variant OV-AU 2 203909312 203909312 single base substitution G A intron_variant OV-AU 2 203921105 203921105 single base substitution G T intron_variant OV-AU 2 203942175 203942175 single base substitution A C intron_variant OV-AU 2 203946238 203946238 single base substitution A G intron_variant OV-AU 2 203946238 203946238 single base substitution A G upstream_gene_variant OV-AU 2 203947897 203947897 single base substitution C T intron_variant OV-AU 2 203947897 203947897 single base substitution C T upstream_gene_variant OV-AU 2 203950648 203950648 single base substitution A G downstream_gene_variant OV-AU 2 203950648 203950648 single base substitution A G exon_variant OV-AU 2 203950648 203950648 single base substitution A G intron_variant OV-AU 2 203952223 203952223 single base substitution T C downstream_gene_variant OV-AU 2 203952223 203952223 single base substitution T C intron_variant OV-AU 2 203962416 203962416 single base substitution C A downstream_gene_variant OV-AU 2 203962416 203962416 single base substitution C A intron_variant OV-AU 2 203969386 203969386 single base substitution G A intron_variant OV-AU 2 203972209 203972209 single base substitution C A missense_variant P417T 1249C>A OV-AU 2 203973485 203973485 single base substitution A T intron_variant OV-AU 2 203973763 203973763 single base substitution A T intron_variant OV-AU 2 203975051 203975051 single base substitution T C intron_variant OV-AU 2 203975615 203975615 single base substitution A C intron_variant OV-AU 2 203977202 203977202 single base substitution G C intron_variant OV-AU 2 203986582 203986582 single base substitution C T intron_variant OV-AU 2 203988949 203988949 single base substitution G C intron_variant OV-AU 2 204003178 204003178 single base substitution G C intron_variant OV-AU 2 204005799 204005799 single base substitution A G intron_variant OV-AU 2 204012570 204012570 single base substitution C G intron_variant OV-AU 2 204024223 204024223 single base substitution A G intron_variant OV-AU 2 204026983 204026983 single base substitution G A intron_variant OV-AU 2 204027629 204027629 single base substitution C A intron_variant OV-AU 2 204027629 204027629 single base substitution C A upstream_gene_variant OV-AU 2 204050204 204050204 single base substitution A T intron_variant OV-AU 2 204050847 204050847 single base substitution C G intron_variant OV-AU 2 204060056 204060056 single base substitution A G downstream_gene_variant OV-AU 2 204060056 204060056 single base substitution A G intron_variant OV-AU 2 204064258 204064258 single base substitution G A intron_variant OV-AU 2 204066510 204066510 single base substitution C G intron_variant OV-AU 2 204066892 204066892 single base substitution A G intron_variant OV-AU 2 204080661 204080661 single base substitution G A intron_variant OV-AU 2 204081624 204081624 single base substitution T C intron_variant OV-AU 2 204081998 204081998 single base substitution G A missense_variant R196Q 587G>A OV-AU 2 204081998 204081998 single base substitution G A missense_variant R2669Q 8006G>A OV-AU 2 204081998 204081998 single base substitution G A missense_variant R684Q 2051G>A OV-AU 2 204088794 204088794 single base substitution G T downstream_gene_variant OV-AU 2 204088794 204088794 single base substitution G T intron_variant OV-US 2 203905158 203905158 single base substitution C T intron_variant PACA-AU 2 203883046 203883048 deletion of <=200bp TCT - intron_variant PACA-AU 2 203885496 203885496 single base substitution A C intron_variant PACA-AU 2 203891755 203891755 single base substitution C G intron_variant PACA-AU 2 203895999 203895999 single base substitution G A intron_variant PACA-AU 2 203897747 203897747 single base substitution G A intron_variant PACA-AU 2 203902133 203902133 single base substitution T C intron_variant PACA-AU 2 203908271 203908271 single base substitution C T downstream_gene_variant PACA-AU 2 203908271 203908271 single base substitution C T intron_variant PACA-AU 2 203909834 203909834 single base substitution A C downstream_gene_variant PACA-AU 2 203909834 203909834 single base substitution A C intron_variant PACA-AU 2 203911105 203911105 single base substitution A T downstream_gene_variant PACA-AU 2 203911105 203911105 single base substitution A T intron_variant PACA-AU 2 203916916 203916916 single base substitution C T downstream_gene_variant PACA-AU 2 203916916 203916916 single base substitution C T intron_variant PACA-AU 2 203917667 203917667 single base substitution C A downstream_gene_variant PACA-AU 2 203917667 203917667 single base substitution C A intron_variant PACA-AU 2 203922385 203922385 single base substitution G A intron_variant PACA-AU 2 203922551 203922551 single base substitution T C intron_variant PACA-AU 2 203925155 203925155 single base substitution C A intron_variant PACA-AU 2 203927758 203927758 single base substitution G T downstream_gene_variant PACA-AU 2 203927758 203927758 single base substitution G T intron_variant PACA-AU 2 203929998 203929998 single base substitution T A downstream_gene_variant PACA-AU 2 203929998 203929998 single base substitution T A intron_variant PACA-AU 2 203933054 203933054 single base substitution G C intron_variant PACA-AU 2 203933203 203933203 single base substitution G A splice_region_variant PACA-AU 2 203936805 203936805 single base substitution G T intron_variant PACA-AU 2 203937790 203937790 single base substitution G C intron_variant PACA-AU 2 203940481 203940481 single base substitution A T intron_variant PACA-AU 2 203945352 203945352 single base substitution T C intron_variant PACA-AU 2 203945352 203945352 single base substitution T C upstream_gene_variant PACA-AU 2 203948989 203948989 single base substitution A G intron_variant PACA-AU 2 203952127 203952127 single base substitution A G downstream_gene_variant PACA-AU 2 203952127 203952127 single base substitution A G intron_variant PACA-AU 2 203952856 203952856 deletion of <=200bp A - downstream_gene_variant PACA-AU 2 203952856 203952856 deletion of <=200bp A - intron_variant PACA-AU 2 203955195 203955195 single base substitution G T downstream_gene_variant PACA-AU 2 203955195 203955195 single base substitution G T intron_variant PACA-AU 2 203956296 203956296 insertion of <=200bp - TTAC intron_variant PACA-AU 2 203960303 203960303 single base substitution C T intron_variant PACA-AU 2 203975398 203975398 insertion of <=200bp - AAAT intron_variant PACA-AU 2 203975495 203975495 single base substitution T C intron_variant PACA-AU 2 203981639 203981639 single base substitution A T intron_variant PACA-AU 2 203982053 203982060 deletion of <=200bp GCGGGCGC - intron_variant PACA-AU 2 203982715 203982715 single base substitution C T intron_variant PACA-AU 2 203983109 203983109 single base substitution C G intron_variant PACA-AU 2 203991393 203991393 single base substitution C T synonymous_variant L1004L 3012C>T PACA-AU 2 203992111 203992111 deletion of <=200bp T - intron_variant PACA-AU 2 203994044 203994044 single base substitution G T intron_variant PACA-AU 2 203994704 203994704 single base substitution A T intron_variant PACA-AU 2 203997371 203997371 single base substitution G A intron_variant PACA-AU 2 203998446 203998446 single base substitution G A intron_variant PACA-AU 2 204002311 204002311 single base substitution G A intron_variant PACA-AU 2 204002721 204002721 single base substitution A T intron_variant PACA-AU 2 204003172 204003172 single base substitution G A intron_variant PACA-AU 2 204004820 204004820 single base substitution T G intron_variant PACA-AU 2 204025136 204025136 single base substitution C G intron_variant PACA-AU 2 204026352 204026367 deletion of <=200bp AAATAAATAAATAAAT - intron_variant PACA-AU 2 204034826 204034826 single base substitution G T intron_variant PACA-AU 2 204036681 204036681 single base substitution G T intron_variant PACA-AU 2 204036681 204036681 single base substitution G T missense_variant D2016Y 6046G>T PACA-AU 2 204037659 204037659 single base substitution A T intron_variant PACA-AU 2 204039623 204039623 single base substitution T A intron_variant PACA-AU 2 204040498 204040498 single base substitution T G intron_variant PACA-AU 2 204053488 204053488 single base substitution A T intron_variant PACA-AU 2 204055282 204055282 single base substitution A G exon_variant PACA-AU 2 204055282 204055282 single base substitution A G intron_variant PACA-AU 2 204056944 204056945 deletion of <=200bp AG - downstream_gene_variant PACA-AU 2 204056944 204056945 deletion of <=200bp AG - intron_variant PACA-AU 2 204063463 204063463 single base substitution G A intron_variant PACA-AU 2 204069445 204069445 single base substitution T C intron_variant PACA-AU 2 204069445 204069445 single base substitution T C upstream_gene_variant PACA-AU 2 204075358 204075358 single base substitution G A intron_variant PACA-AU 2 204075771 204075771 single base substitution G A missense_variant G124R 370G>A PACA-AU 2 204075771 204075771 single base substitution G A missense_variant G2597R 7789G>A PACA-AU 2 204075771 204075771 single base substitution G A missense_variant G612R 1834G>A PACA-AU 2 204085673 204085673 single base substitution C T downstream_gene_variant PACA-AU 2 204085673 204085673 single base substitution C T intron_variant PACA-AU 2 204085709 204085709 single base substitution C G downstream_gene_variant PACA-AU 2 204085709 204085709 single base substitution C G intron_variant PACA-AU 2 204086295 204086295 single base substitution C G downstream_gene_variant PACA-AU 2 204086295 204086295 single base substitution C G intron_variant PACA-AU 2 204086328 204086328 single base substitution C A downstream_gene_variant PACA-AU 2 204086328 204086328 single base substitution C A intron_variant PACA-AU 2 204086661 204086661 single base substitution C G downstream_gene_variant PACA-AU 2 204086661 204086661 single base substitution C G intron_variant PACA-AU 2 204086879 204086879 single base substitution C T downstream_gene_variant PACA-AU 2 204086879 204086879 single base substitution C T intron_variant PACA-AU 2 204087138 204087138 single base substitution C T downstream_gene_variant PACA-AU 2 204087138 204087138 single base substitution C T intron_variant PACA-AU 2 204087318 204087318 single base substitution C T downstream_gene_variant PACA-AU 2 204087318 204087318 single base substitution C T intron_variant PACA-AU 2 204087549 204087549 single base substitution C G downstream_gene_variant PACA-AU 2 204087549 204087549 single base substitution C G intron_variant PACA-AU 2 204087683 204087683 single base substitution T C downstream_gene_variant PACA-AU 2 204087683 204087683 single base substitution T C intron_variant PACA-AU 2 204088219 204088219 single base substitution C T downstream_gene_variant PACA-AU 2 204088219 204088219 single base substitution C T intron_variant PACA-AU 2 204094870 204094870 single base substitution C T downstream_gene_variant PACA-AU 2 204094882 204094882 single base substitution A G downstream_gene_variant PACA-AU 2 204094886 204094886 single base substitution T C downstream_gene_variant PACA-AU 2 204095397 204095397 single base substitution G A downstream_gene_variant PACA-CA 2 203876030 203876030 single base substitution A T upstream_gene_variant PACA-CA 2 203877090 203877090 single base substitution G C upstream_gene_variant PACA-CA 2 203877928 203877928 single base substitution A G upstream_gene_variant PACA-CA 2 203880476 203880476 single base substitution C T intron_variant PACA-CA 2 203880476 203880476 single base substitution C T upstream_gene_variant PACA-CA 2 203882113 203882113 single base substitution A G intron_variant PACA-CA 2 203885046 203885046 single base substitution C G intron_variant PACA-CA 2 203891774 203891774 single base substitution G A intron_variant PACA-CA 2 203892517 203892517 single base substitution C T intron_variant PACA-CA 2 203895429 203895429 insertion of <=200bp - TATG intron_variant PACA-CA 2 203899047 203899047 insertion of <=200bp - T intron_variant PACA-CA 2 203900923 203900923 single base substitution T A intron_variant PACA-CA 2 203901031 203901031 deletion of <=200bp T - intron_variant PACA-CA 2 203901739 203901739 single base substitution A G intron_variant PACA-CA 2 203905281 203905281 single base substitution C G intron_variant PACA-CA 2 203907150 203907150 single base substitution G A downstream_gene_variant PACA-CA 2 203907150 203907150 single base substitution G A intron_variant PACA-CA 2 203912823 203912823 single base substitution G A intron_variant PACA-CA 2 203917455 203917455 insertion of <=200bp - TATTTATC downstream_gene_variant PACA-CA 2 203917455 203917455 insertion of <=200bp - TATTTATC intron_variant PACA-CA 2 203919164 203919164 single base substitution A T downstream_gene_variant PACA-CA 2 203919164 203919164 single base substitution A T intron_variant PACA-CA 2 203922723 203922723 single base substitution C T intron_variant PACA-CA 2 203928133 203928133 single base substitution G C downstream_gene_variant PACA-CA 2 203928133 203928133 single base substitution G C intron_variant PACA-CA 2 203928297 203928301 deletion of <=200bp AGAAG - downstream_gene_variant PACA-CA 2 203928297 203928301 deletion of <=200bp AGAAG - intron_variant PACA-CA 2 203932182 203932182 single base substitution A T downstream_gene_variant PACA-CA 2 203932182 203932182 single base substitution A T intron_variant PACA-CA 2 203939659 203939659 single base substitution G C intron_variant PACA-CA 2 203940521 203940521 single base substitution C A intron_variant PACA-CA 2 203942343 203942343 single base substitution C G intron_variant PACA-CA 2 203942442 203942453 deletion of <=200bp TTATTTATTTAT - intron_variant PACA-CA 2 203943339 203943339 single base substitution G A intron_variant PACA-CA 2 203943339 203943339 single base substitution G A upstream_gene_variant PACA-CA 2 203946243 203946243 single base substitution T G intron_variant PACA-CA 2 203946243 203946243 single base substitution T G upstream_gene_variant PACA-CA 2 203947406 203947406 single base substitution C T intron_variant PACA-CA 2 203947406 203947406 single base substitution C T upstream_gene_variant PACA-CA 2 203947580 203947580 single base substitution G A intron_variant PACA-CA 2 203947580 203947580 single base substitution G A upstream_gene_variant PACA-CA 2 203949885 203949885 single base substitution A T downstream_gene_variant PACA-CA 2 203949885 203949885 single base substitution A T intron_variant PACA-CA 2 203953903 203953903 single base substitution A C downstream_gene_variant PACA-CA 2 203953903 203953903 single base substitution A C intron_variant PACA-CA 2 203956223 203956223 single base substitution A T intron_variant PACA-CA 2 203958581 203958581 single base substitution C A intron_variant PACA-CA 2 203958699 203958699 single base substitution T A intron_variant PACA-CA 2 203959276 203959276 single base substitution G A intron_variant PACA-CA 2 203961431 203961431 single base substitution C A intron_variant PACA-CA 2 203966555 203966555 single base substitution A T downstream_gene_variant PACA-CA 2 203966555 203966555 single base substitution A T intron_variant PACA-CA 2 203966877 203966877 single base substitution G A downstream_gene_variant PACA-CA 2 203966877 203966877 single base substitution G A intron_variant PACA-CA 2 203971967 203971967 single base substitution T C intron_variant PACA-CA 2 203972076 203972076 single base substitution T C intron_variant PACA-CA 2 203972704 203972704 single base substitution G A missense_variant R552Q 1655G>A PACA-CA 2 203976915 203976915 single base substitution T C intron_variant PACA-CA 2 203983665 203983665 single base substitution G A intron_variant PACA-CA 2 203987356 203987356 single base substitution C G intron_variant PACA-CA 2 203988905 203988905 single base substitution C T intron_variant PACA-CA 2 203989492 203989492 single base substitution A G intron_variant PACA-CA 2 203990754 203990754 single base substitution A C missense_variant I946L 2836A>C PACA-CA 2 203996472 203996472 single base substitution C T intron_variant PACA-CA 2 203998524 203998527 deletion of <=200bp TTTG - intron_variant PACA-CA 2 204005511 204005511 single base substitution G C intron_variant PACA-CA 2 204009058 204009058 single base substitution G C intron_variant PACA-CA 2 204009126 204009126 single base substitution A G intron_variant PACA-CA 2 204009785 204009785 single base substitution G C missense_variant E1707Q 5119G>C PACA-CA 2 204011674 204011674 single base substitution G C intron_variant PACA-CA 2 204013748 204013748 single base substitution G A missense_variant R1751H 5252G>A PACA-CA 2 204015826 204015826 single base substitution G A intron_variant PACA-CA 2 204018174 204018174 insertion of <=200bp - T intron_variant PACA-CA 2 204023224 204023224 single base substitution A G intron_variant PACA-CA 2 204023663 204023663 single base substitution C T intron_variant PACA-CA 2 204025521 204025521 single base substitution G T intron_variant PACA-CA 2 204027635 204027635 single base substitution G C intron_variant PACA-CA 2 204027635 204027635 single base substitution G C upstream_gene_variant PACA-CA 2 204029366 204029366 single base substitution A T intron_variant PACA-CA 2 204029366 204029366 single base substitution A T upstream_gene_variant PACA-CA 2 204032920 204032920 single base substitution T A intron_variant PACA-CA 2 204033847 204033847 single base substitution C T intron_variant PACA-CA 2 204034782 204034782 single base substitution C T intron_variant PACA-CA 2 204035379 204035379 single base substitution C A intron_variant PACA-CA 2 204035392 204035392 single base substitution C A intron_variant PACA-CA 2 204036876 204036876 single base substitution C T intron_variant PACA-CA 2 204036878 204036878 single base substitution C A intron_variant PACA-CA 2 204045404 204045404 single base substitution A C intron_variant PACA-CA 2 204045404 204045404 single base substitution A C upstream_gene_variant PACA-CA 2 204053018 204053018 single base substitution A G intron_variant PACA-CA 2 204054998 204054998 single base substitution A G intron_variant PACA-CA 2 204056180 204056180 single base substitution G T downstream_gene_variant PACA-CA 2 204056180 204056180 single base substitution G T intron_variant PACA-CA 2 204059583 204059583 deletion of <=200bp T - downstream_gene_variant PACA-CA 2 204059583 204059583 deletion of <=200bp T - intron_variant PACA-CA 2 204063314 204063314 single base substitution C T intron_variant PACA-CA 2 204063677 204063677 single base substitution G A intron_variant PACA-CA 2 204065395 204065395 single base substitution C T intron_variant PACA-CA 2 204066452 204066467 deletion of <=200bp TTTTTTCCAAAAATGC - intron_variant PACA-CA 2 204067422 204067422 single base substitution G T missense_variant C2446F 7337G>T PACA-CA 2 204067422 204067422 single base substitution G T missense_variant C461F 1382G>T PACA-CA 2 204069174 204069174 single base substitution C T intron_variant PACA-CA 2 204069174 204069174 single base substitution C T upstream_gene_variant PACA-CA 2 204069313 204069313 single base substitution G C intron_variant PACA-CA 2 204069313 204069313 single base substitution G C upstream_gene_variant PACA-CA 2 204072487 204072487 single base substitution C G intron_variant PACA-CA 2 204072487 204072487 single base substitution C G upstream_gene_variant PACA-CA 2 204074638 204074638 insertion of <=200bp - T intron_variant PACA-CA 2 204075824 204075824 single base substitution C T synonymous_variant L141L 423C>T PACA-CA 2 204075824 204075824 single base substitution C T synonymous_variant L2614L 7842C>T PACA-CA 2 204075824 204075824 single base substitution C T synonymous_variant L629L 1887C>T PACA-CA 2 204078474 204078474 single base substitution A G intron_variant PACA-CA 2 204080279 204080279 single base substitution C T intron_variant PACA-CA 2 204080606 204080606 single base substitution T C intron_variant PACA-CA 2 204082018 204082018 single base substitution A G missense_variant K203E 607A>G PACA-CA 2 204082018 204082018 single base substitution A G missense_variant K2676E 8026A>G PACA-CA 2 204082018 204082018 single base substitution A G missense_variant K691E 2071A>G PACA-CA 2 204082903 204082903 single base substitution C A 3_prime_UTR_variant PACA-CA 2 204082903 204082903 single base substitution C A downstream_gene_variant PACA-CA 2 204082903 204082903 single base substitution C A intron_variant PACA-CA 2 204083477 204083477 insertion of <=200bp - A 3_prime_UTR_variant PACA-CA 2 204083477 204083477 insertion of <=200bp - A downstream_gene_variant PACA-CA 2 204083477 204083477 insertion of <=200bp - A intron_variant PACA-CA 2 204083485 204083485 single base substitution T A 3_prime_UTR_variant PACA-CA 2 204083485 204083485 single base substitution T A downstream_gene_variant PACA-CA 2 204083485 204083485 single base substitution T A intron_variant PACA-CA 2 204084932 204084932 single base substitution A G downstream_gene_variant PACA-CA 2 204084932 204084932 single base substitution A G intron_variant PACA-CA 2 204088726 204088726 single base substitution G T downstream_gene_variant PACA-CA 2 204088726 204088726 single base substitution G T intron_variant PACA-CA 2 204089901 204089901 single base substitution T G intron_variant PACA-CA 2 204090580 204090580 single base substitution A G intron_variant PACA-CA 2 204092833 204092833 single base substitution A G downstream_gene_variant PACA-CA 2 204093408 204093408 single base substitution G A downstream_gene_variant PAEN-AU 2 204051678 204051678 single base substitution C A intron_variant PAEN-AU 2 204052953 204052953 single base substitution C G intron_variant PAEN-IT 2 203958912 203958912 single base substitution A G intron_variant PAEN-IT 2 203963209 203963209 single base substitution C A downstream_gene_variant PAEN-IT 2 203963209 203963209 single base substitution C A intron_variant PAEN-IT 2 204022341 204022341 single base substitution C A intron_variant PAEN-IT 2 204088675 204088675 single base substitution G T downstream_gene_variant PAEN-IT 2 204088675 204088675 single base substitution G T intron_variant PBCA-DE 2 203884609 203884609 single base substitution G T intron_variant PBCA-DE 2 203906735 203906735 single base substitution T G downstream_gene_variant PBCA-DE 2 203906735 203906735 single base substitution T G intron_variant PBCA-DE 2 203907945 203907945 single base substitution T A downstream_gene_variant PBCA-DE 2 203907945 203907945 single base substitution T A intron_variant PBCA-DE 2 203913868 203913868 single base substitution G A intron_variant PBCA-DE 2 203926819 203926819 single base substitution C T intron_variant PBCA-DE 2 203955496 203955496 single base substitution C T downstream_gene_variant PBCA-DE 2 203955496 203955496 single base substitution C T intron_variant PBCA-DE 2 203956764 203956764 single base substitution T A intron_variant PBCA-DE 2 203960185 203960185 insertion of <=200bp - TTT intron_variant PBCA-DE 2 203967578 203967578 insertion of <=200bp - T intron_variant PBCA-DE 2 203969591 203969591 deletion of <=200bp T - intron_variant PBCA-DE 2 203970889 203970891 deletion of <=200bp GTG - intron_variant PBCA-DE 2 203980596 203980596 single base substitution G A intron_variant PBCA-DE 2 203987769 203987769 single base substitution T A intron_variant PBCA-DE 2 203990096 203990096 single base substitution G A missense_variant G873R 2617G>A PBCA-DE 2 203998428 203998429 deletion of <=200bp AT - intron_variant PBCA-DE 2 204007878 204007878 single base substitution T C intron_variant PBCA-DE 2 204009665 204009665 single base substitution A T intron_variant PBCA-DE 2 204018652 204018652 insertion of <=200bp - T intron_variant PBCA-DE 2 204019786 204019786 single base substitution A G intron_variant PBCA-DE 2 204033464 204033464 deletion of <=200bp G - intron_variant PBCA-DE 2 204038874 204038875 deletion of <=200bp TT - intron_variant PBCA-DE 2 204047819 204047819 single base substitution T C exon_variant PBCA-DE 2 204047819 204047819 single base substitution T C intron_variant PBCA-DE 2 204055095 204055095 single base substitution C T exon_variant PBCA-DE 2 204055095 204055095 single base substitution C T missense_variant P2273S 6817C>T PBCA-DE 2 204055095 204055095 single base substitution C T missense_variant P288S 862C>T PBCA-DE 2 204068968 204068968 single base substitution A T intron_variant PBCA-DE 2 204068968 204068968 single base substitution A T upstream_gene_variant PBCA-DE 2 204088685 204088685 single base substitution A T downstream_gene_variant PBCA-DE 2 204088685 204088685 single base substitution A T intron_variant PBCA-DE 2 204089050 204089050 single base substitution T G downstream_gene_variant PBCA-DE 2 204089050 204089050 single base substitution T G intron_variant PRAD-CA 2 203907324 203907324 single base substitution C T downstream_gene_variant PRAD-CA 2 203907324 203907324 single base substitution C T intron_variant PRAD-CA 2 203908293 203908293 single base substitution G A downstream_gene_variant PRAD-CA 2 203908293 203908293 single base substitution G A intron_variant PRAD-CA 2 203910894 203910894 single base substitution G A downstream_gene_variant PRAD-CA 2 203910894 203910894 single base substitution G A intron_variant PRAD-CA 2 203958167 203958167 single base substitution C T intron_variant PRAD-CA 2 204003285 204003285 single base substitution C A intron_variant PRAD-CA 2 204007978 204007978 single base substitution T A intron_variant PRAD-CA 2 204018448 204018448 single base substitution A C intron_variant PRAD-CA 2 204023997 204023997 single base substitution A T intron_variant PRAD-CA 2 204036673 204036673 single base substitution C G intron_variant PRAD-CA 2 204036673 204036673 single base substitution C G stop_gained S2013* 6038C>G PRAD-CA 2 204037718 204037718 single base substitution G A intron_variant PRAD-CA 2 204042883 204042883 single base substitution C T intron_variant PRAD-CA 2 204042883 204042883 single base substitution C T upstream_gene_variant PRAD-UK 2 203894503 203894503 single base substitution T G intron_variant PRAD-UK 2 203897486 203897486 single base substitution C T intron_variant PRAD-UK 2 203906553 203906553 single base substitution C T exon_variant PRAD-UK 2 203906553 203906553 single base substitution C T synonymous_variant D39D 117C>T PRAD-UK 2 203909828 203909828 insertion of <=200bp - A downstream_gene_variant PRAD-UK 2 203909828 203909828 insertion of <=200bp - A intron_variant PRAD-UK 2 203917332 203917332 single base substitution G A downstream_gene_variant PRAD-UK 2 203917332 203917332 single base substitution G A intron_variant PRAD-UK 2 203920453 203920453 single base substitution T C intron_variant PRAD-UK 2 203920757 203920757 insertion of <=200bp - A intron_variant PRAD-UK 2 203920763 203920763 insertion of <=200bp - A intron_variant PRAD-UK 2 203923386 203923386 single base substitution G A intron_variant PRAD-UK 2 203928171 203928171 insertion of <=200bp - GGAGGGAG downstream_gene_variant PRAD-UK 2 203928171 203928171 insertion of <=200bp - GGAGGGAG intron_variant PRAD-UK 2 203932370 203932370 single base substitution T C intron_variant PRAD-UK 2 203948601 203948638 deletion of <=200bp TTTTGTATGTGCCTCTATAACATCTCTGTAGAGGTCGC - intron_variant PRAD-UK 2 203972688 203972688 single base substitution G A missense_variant V547I 1639G>A PRAD-UK 2 203988677 203988677 single base substitution G A intron_variant PRAD-UK 2 203991095 203991095 single base substitution A G intron_variant PRAD-UK 2 203993383 203993408 deletion of <=200bp CAATCTCGGCTCACTGCAACCTCCGC - intron_variant PRAD-UK 2 204003096 204003096 single base substitution A C intron_variant PRAD-UK 2 204036872 204036872 insertion of <=200bp - CTACC intron_variant PRAD-UK 2 204043170 204043170 single base substitution G A intron_variant PRAD-UK 2 204043170 204043170 single base substitution G A upstream_gene_variant PRAD-UK 2 204059960 204059960 single base substitution G A downstream_gene_variant PRAD-UK 2 204059960 204059960 single base substitution G A intron_variant PRAD-UK 2 204060549 204060549 single base substitution A G downstream_gene_variant PRAD-UK 2 204060549 204060549 single base substitution A G intron_variant PRAD-UK 2 204090408 204090408 single base substitution A G intron_variant PRAD-US 2 204039932 204039932 single base substitution C G stop_gained S115* 344C>G PRAD-US 2 204039932 204039932 single base substitution C G stop_gained S2100* 6299C>G READ-US 2 203948200 203948200 single base substitution T C exon_variant READ-US 2 203948200 203948200 single base substitution T C missense_variant S315P 943T>C READ-US 2 203948200 203948200 single base substitution T C upstream_gene_variant READ-US 2 203972179 203972179 single base substitution C T missense_variant L407F 1219C>T READ-US 2 203991379 203991379 single base substitution T C missense_variant Y1000H 2998T>C READ-US 2 204009442 204009442 single base substitution G T missense_variant K1627N 4881G>T READ-US 2 204016260 204016260 single base substitution G A synonymous_variant P1816P 5448G>A READ-US 2 204030900 204030900 single base substitution G T stop_gained E1886* 5656G>T READ-US 2 204030900 204030900 single base substitution G T upstream_gene_variant READ-US 2 204036715 204036715 single base substitution G A intron_variant READ-US 2 204036715 204036715 single base substitution G A missense_variant R2027Q 6080G>A READ-US 2 204037515 204037515 single base substitution C T stop_gained R2059* 6175C>T READ-US 2 204037515 204037515 single base substitution C T stop_gained R74* 220C>T READ-US 2 204067455 204067455 single base substitution T G missense_variant I2457S 7370T>G READ-US 2 204067455 204067455 single base substitution T G missense_variant I472S 1415T>G RECA-EU 2 203877426 203877426 single base substitution G C upstream_gene_variant RECA-EU 2 203883825 203883825 single base substitution G C intron_variant RECA-EU 2 203913744 203913744 single base substitution T G intron_variant RECA-EU 2 203919164 203919164 single base substitution A T downstream_gene_variant RECA-EU 2 203919164 203919164 single base substitution A T intron_variant RECA-EU 2 203927207 203927207 single base substitution A G exon_variant RECA-EU 2 203927207 203927207 single base substitution A G intron_variant RECA-EU 2 203927890 203927890 single base substitution C A downstream_gene_variant RECA-EU 2 203927890 203927890 single base substitution C A intron_variant RECA-EU 2 203933920 203933920 single base substitution A G intron_variant RECA-EU 2 203939381 203939381 single base substitution A G intron_variant RECA-EU 2 203956042 203956042 single base substitution T G intron_variant RECA-EU 2 203959210 203959210 single base substitution C G intron_variant RECA-EU 2 203969449 203969449 single base substitution T G intron_variant RECA-EU 2 203970772 203970772 single base substitution C A intron_variant RECA-EU 2 203978385 203978385 single base substitution T C intron_variant RECA-EU 2 203982467 203982467 single base substitution G T intron_variant RECA-EU 2 203982953 203982953 single base substitution C T intron_variant RECA-EU 2 203985415 203985415 single base substitution G C intron_variant RECA-EU 2 203992519 203992519 single base substitution T G stop_gained Y1059* 3177T>G RECA-EU 2 203999790 203999790 single base substitution T C intron_variant RECA-EU 2 204006822 204006822 single base substitution C G intron_variant RECA-EU 2 204010085 204010085 single base substitution A C intron_variant RECA-EU 2 204016374 204016374 single base substitution G A intron_variant RECA-EU 2 204017296 204017296 single base substitution A T intron_variant RECA-EU 2 204019063 204019063 single base substitution A T intron_variant RECA-EU 2 204022596 204022596 single base substitution A G intron_variant RECA-EU 2 204032982 204032982 single base substitution G T intron_variant RECA-EU 2 204048819 204048819 single base substitution A G intron_variant RECA-EU 2 204053415 204053415 single base substitution A G intron_variant RECA-EU 2 204057688 204057688 single base substitution T C downstream_gene_variant RECA-EU 2 204057688 204057688 single base substitution T C intron_variant RECA-EU 2 204057690 204057690 single base substitution T C downstream_gene_variant RECA-EU 2 204057690 204057690 single base substitution T C intron_variant RECA-EU 2 204060117 204060117 single base substitution T G downstream_gene_variant RECA-EU 2 204060117 204060117 single base substitution T G intron_variant RECA-EU 2 204066955 204066955 single base substitution C G intron_variant RECA-EU 2 204068968 204068968 single base substitution A T intron_variant RECA-EU 2 204068968 204068968 single base substitution A T upstream_gene_variant RECA-EU 2 204070042 204070042 single base substitution A G intron_variant RECA-EU 2 204070042 204070042 single base substitution A G upstream_gene_variant RECA-EU 2 204072566 204072566 single base substitution A G intron_variant RECA-EU 2 204072566 204072566 single base substitution A G upstream_gene_variant RECA-EU 2 204080472 204080472 single base substitution T A intron_variant SKCA-BR 2 203874823 203874823 single base substitution G T upstream_gene_variant SKCA-BR 2 203875549 203875549 single base substitution C T upstream_gene_variant SKCA-BR 2 203876437 203876437 single base substitution A G upstream_gene_variant SKCA-BR 2 203879298 203879298 single base substitution G A upstream_gene_variant SKCA-BR 2 203885849 203885849 single base substitution C T intron_variant SKCA-BR 2 203889592 203889592 single base substitution T C intron_variant SKCA-BR 2 203891992 203891992 single base substitution C T intron_variant SKCA-BR 2 203903603 203903603 single base substitution A G intron_variant SKCA-BR 2 203904544 203904544 single base substitution A C intron_variant SKCA-BR 2 203904995 203904995 single base substitution C T intron_variant SKCA-BR 2 203908775 203908775 single base substitution T G downstream_gene_variant SKCA-BR 2 203908775 203908775 single base substitution T G intron_variant SKCA-BR 2 203908784 203908784 single base substitution T G downstream_gene_variant SKCA-BR 2 203908784 203908784 single base substitution T G intron_variant SKCA-BR 2 203910931 203910931 insertion of <=200bp - ATATT downstream_gene_variant SKCA-BR 2 203910931 203910931 insertion of <=200bp - ATATT intron_variant SKCA-BR 2 203913605 203913606 deletion of <=200bp CT - intron_variant SKCA-BR 2 203918358 203918358 single base substitution C T downstream_gene_variant SKCA-BR 2 203918358 203918358 single base substitution C T intron_variant SKCA-BR 2 203918948 203918948 single base substitution G T downstream_gene_variant SKCA-BR 2 203918948 203918948 single base substitution G T intron_variant SKCA-BR 2 203921061 203921061 single base substitution C G intron_variant SKCA-BR 2 203922286 203922286 single base substitution C T intron_variant SKCA-BR 2 203922981 203922981 single base substitution C T intron_variant SKCA-BR 2 203931046 203931047 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 2 203931046 203931047 deletion of <=200bp CT - intron_variant SKCA-BR 2 203935082 203935082 insertion of <=200bp - CT intron_variant SKCA-BR 2 203939607 203939607 single base substitution C T intron_variant SKCA-BR 2 203941207 203941209 deletion of <=200bp AAC - intron_variant SKCA-BR 2 203942792 203942792 single base substitution A G intron_variant SKCA-BR 2 203942793 203942793 single base substitution A G intron_variant SKCA-BR 2 203947043 203947043 single base substitution A G intron_variant SKCA-BR 2 203947043 203947043 single base substitution A G upstream_gene_variant SKCA-BR 2 203947251 203947251 single base substitution C T intron_variant SKCA-BR 2 203947251 203947251 single base substitution C T upstream_gene_variant SKCA-BR 2 203951385 203951385 single base substitution A G downstream_gene_variant SKCA-BR 2 203951385 203951385 single base substitution A G intron_variant SKCA-BR 2 203954365 203954365 single base substitution T A downstream_gene_variant SKCA-BR 2 203954365 203954365 single base substitution T A intron_variant SKCA-BR 2 203955352 203955352 single base substitution C T downstream_gene_variant SKCA-BR 2 203955352 203955352 single base substitution C T intron_variant SKCA-BR 2 203957431 203957431 single base substitution C T intron_variant SKCA-BR 2 203958325 203958325 single base substitution C A intron_variant SKCA-BR 2 203959337 203959337 single base substitution A G intron_variant SKCA-BR 2 203961350 203961350 single base substitution T C intron_variant SKCA-BR 2 203961352 203961352 single base substitution C T intron_variant SKCA-BR 2 203962002 203962002 single base substitution T A intron_variant SKCA-BR 2 203962868 203962868 single base substitution C T downstream_gene_variant SKCA-BR 2 203962868 203962868 single base substitution C T intron_variant SKCA-BR 2 203964148 203964148 single base substitution C T downstream_gene_variant SKCA-BR 2 203964148 203964148 single base substitution C T intron_variant SKCA-BR 2 203969405 203969405 single base substitution T G intron_variant SKCA-BR 2 203970715 203970715 single base substitution C T intron_variant SKCA-BR 2 203971831 203971831 single base substitution C T intron_variant SKCA-BR 2 203974486 203974486 single base substitution G T intron_variant SKCA-BR 2 203979058 203979058 single base substitution C T intron_variant SKCA-BR 2 203981245 203981245 single base substitution C A intron_variant SKCA-BR 2 203981350 203981350 insertion of <=200bp - CAAA intron_variant SKCA-BR 2 203981802 203981802 single base substitution G A intron_variant SKCA-BR 2 203985258 203985258 single base substitution C A intron_variant SKCA-BR 2 203987489 203987489 single base substitution C T intron_variant SKCA-BR 2 203988053 203988053 single base substitution C T intron_variant SKCA-BR 2 203993029 203993029 single base substitution C T intron_variant SKCA-BR 2 203993512 203993512 single base substitution G A intron_variant SKCA-BR 2 203998586 203998586 single base substitution C T intron_variant SKCA-BR 2 204002713 204002714 deletion of <=200bp CA - intron_variant SKCA-BR 2 204004966 204004966 single base substitution T G intron_variant SKCA-BR 2 204005024 204005024 insertion of <=200bp - TA intron_variant SKCA-BR 2 204010220 204010220 single base substitution C T intron_variant SKCA-BR 2 204010520 204010521 deletion of <=200bp CA - intron_variant SKCA-BR 2 204014212 204014212 single base substitution C A intron_variant SKCA-BR 2 204014447 204014447 single base substitution C T intron_variant SKCA-BR 2 204017694 204017694 single base substitution G A intron_variant SKCA-BR 2 204018563 204018563 single base substitution C T intron_variant SKCA-BR 2 204018996 204018996 single base substitution A G intron_variant SKCA-BR 2 204021161 204021161 single base substitution T C intron_variant SKCA-BR 2 204022806 204022806 single base substitution A G intron_variant SKCA-BR 2 204024038 204024038 single base substitution C T intron_variant SKCA-BR 2 204025869 204025869 single base substitution T G intron_variant SKCA-BR 2 204026351 204026363 deletion of <=200bp CAAATAAATAAAT - intron_variant SKCA-BR 2 204029584 204029584 insertion of <=200bp - CT intron_variant SKCA-BR 2 204029584 204029584 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 2 204030546 204030546 single base substitution C T intron_variant SKCA-BR 2 204030546 204030546 single base substitution C T upstream_gene_variant SKCA-BR 2 204031504 204031504 single base substitution C T intron_variant SKCA-BR 2 204031504 204031504 single base substitution C T upstream_gene_variant SKCA-BR 2 204033636 204033636 insertion of <=200bp - AG intron_variant SKCA-BR 2 204033671 204033671 single base substitution G T intron_variant SKCA-BR 2 204034882 204034882 single base substitution T G intron_variant SKCA-BR 2 204037018 204037018 single base substitution T G intron_variant SKCA-BR 2 204038619 204038619 single base substitution C T intron_variant SKCA-BR 2 204039704 204039704 single base substitution C T intron_variant SKCA-BR 2 204040894 204040894 insertion of <=200bp - CT intron_variant SKCA-BR 2 204040894 204040894 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 2 204042096 204042096 insertion of <=200bp - TA intron_variant SKCA-BR 2 204042096 204042096 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 2 204044663 204044663 single base substitution A T intron_variant SKCA-BR 2 204044663 204044663 single base substitution A T upstream_gene_variant SKCA-BR 2 204044832 204044832 single base substitution G T intron_variant SKCA-BR 2 204044832 204044832 single base substitution G T upstream_gene_variant SKCA-BR 2 204045824 204045824 insertion of <=200bp - AT exon_variant SKCA-BR 2 204045824 204045824 insertion of <=200bp - AT intron_variant SKCA-BR 2 204048819 204048819 single base substitution A G intron_variant SKCA-BR 2 204048823 204048823 single base substitution G C intron_variant SKCA-BR 2 204049820 204049820 single base substitution C T intron_variant SKCA-BR 2 204051009 204051009 single base substitution G A intron_variant SKCA-BR 2 204052144 204052144 single base substitution C T intron_variant SKCA-BR 2 204054796 204054796 single base substitution T C intron_variant SKCA-BR 2 204055473 204055473 single base substitution C T exon_variant SKCA-BR 2 204055473 204055473 single base substitution C T intron_variant SKCA-BR 2 204055484 204055484 single base substitution A G exon_variant SKCA-BR 2 204055484 204055484 single base substitution A G intron_variant SKCA-BR 2 204055840 204055840 single base substitution T C exon_variant SKCA-BR 2 204055840 204055840 single base substitution T C intron_variant SKCA-BR 2 204055943 204055943 single base substitution T C exon_variant SKCA-BR 2 204055943 204055943 single base substitution T C intron_variant SKCA-BR 2 204057688 204057688 insertion of <=200bp - TTC downstream_gene_variant SKCA-BR 2 204057688 204057688 insertion of <=200bp - TTC intron_variant SKCA-BR 2 204057688 204057688 single base substitution T C downstream_gene_variant SKCA-BR 2 204057688 204057688 single base substitution T C intron_variant SKCA-BR 2 204057690 204057690 single base substitution T C downstream_gene_variant SKCA-BR 2 204057690 204057690 single base substitution T C intron_variant SKCA-BR 2 204057779 204057779 single base substitution C T downstream_gene_variant SKCA-BR 2 204057779 204057779 single base substitution C T intron_variant SKCA-BR 2 204060825 204060825 single base substitution C T downstream_gene_variant SKCA-BR 2 204060825 204060825 single base substitution C T intron_variant SKCA-BR 2 204061995 204061995 single base substitution A C intron_variant SKCA-BR 2 204067213 204067213 single base substitution G A intron_variant SKCA-BR 2 204067398 204067398 single base substitution C T intron_variant SKCA-BR 2 204068345 204068345 single base substitution C T intron_variant SKCA-BR 2 204074449 204074449 insertion of <=200bp - TGTGTGTGG intron_variant SKCA-BR 2 204074970 204074970 single base substitution C A intron_variant SKCA-BR 2 204079255 204079255 single base substitution T G intron_variant SKCA-BR 2 204080312 204080312 single base substitution G C intron_variant SKCA-BR 2 204085896 204085896 single base substitution T C downstream_gene_variant SKCA-BR 2 204085896 204085896 single base substitution T C intron_variant SKCA-BR 2 204085930 204085930 single base substitution T C downstream_gene_variant SKCA-BR 2 204085930 204085930 single base substitution T C intron_variant SKCA-BR 2 204087230 204087230 single base substitution C T downstream_gene_variant SKCA-BR 2 204087230 204087230 single base substitution C T intron_variant SKCA-BR 2 204092628 204092628 single base substitution A C downstream_gene_variant SKCA-BR 2 204093679 204093679 single base substitution C T downstream_gene_variant SKCA-BR 2 204094994 204094994 single base substitution T G downstream_gene_variant SKCA-BR 2 204095444 204095444 single base substitution G A downstream_gene_variant SKCM-US 2 203906494 203906494 single base substitution C T exon_variant SKCM-US 2 203906494 203906494 single base substitution C T missense_variant P20S 58C>T SKCM-US 2 203921152 203921152 single base substitution A C missense_variant N103T 308A>C SKCM-US 2 203921152 203921152 single base substitution A C splice_region_variant SKCM-US 2 203948235 203948235 single base substitution G T exon_variant SKCM-US 2 203948235 203948235 single base substitution G T missense_variant Q326H 978G>T SKCM-US 2 203972708 203972708 single base substitution A G synonymous_variant A553A 1659A>G SKCM-US 2 203977874 203977874 single base substitution C T missense_variant S751F 2252C>T SKCM-US 2 203980710 203980710 single base substitution C T missense_variant P808S 2422C>T SKCM-US 2 203980784 203980784 single base substitution C T synonymous_variant Y832Y 2496C>T SKCM-US 2 203991366 203991366 single base substitution C T synonymous_variant L995L 2985C>T SKCM-US 2 204000556 204000556 single base substitution G A missense_variant D1295N 3883G>A SKCM-US 2 204002981 204002981 single base substitution C T synonymous_variant I1525I 4575C>T SKCM-US 2 204003378 204003378 single base substitution G T synonymous_variant L1556L 4668G>T SKCM-US 2 204016255 204016255 single base substitution G T missense_variant V1815L 5443G>T SKCM-US 2 204022527 204022527 single base substitution A G missense_variant D1869G 5606A>G SKCM-US 2 204030954 204030954 single base substitution C T missense_variant P1904S 5710C>T SKCM-US 2 204030954 204030954 single base substitution C T upstream_gene_variant SKCM-US 2 204031988 204031988 single base substitution C T stop_gained R1939* 5815C>T SKCM-US 2 204031988 204031988 single base substitution C T upstream_gene_variant SKCM-US 2 204034557 204034557 single base substitution G A missense_variant A2000T 5998G>A SKCM-US 2 204034557 204034557 single base substitution G A missense_variant A47T 139G>A SKCM-US 2 204045118 204045118 single base substitution G A missense_variant D146N 436G>A SKCM-US 2 204045118 204045118 single base substitution G A missense_variant D2131N 6391G>A SKCM-US 2 204045118 204045118 single base substitution G A upstream_gene_variant SKCM-US 2 204045169 204045169 single base substitution C T missense_variant P163S 487C>T SKCM-US 2 204045169 204045169 single base substitution C T missense_variant P2148S 6442C>T SKCM-US 2 204045169 204045169 single base substitution C T upstream_gene_variant SKCM-US 2 204045234 204045234 single base substitution T G missense_variant N184K 552T>G SKCM-US 2 204045234 204045234 single base substitution T G missense_variant N2169K 6507T>G SKCM-US 2 204045234 204045234 single base substitution T G upstream_gene_variant SKCM-US 2 204058526 204058526 single base substitution C T downstream_gene_variant SKCM-US 2 204058526 204058526 single base substitution C T synonymous_variant H2281H 6843C>T SKCM-US 2 204058526 204058526 single base substitution C T synonymous_variant H296H 888C>T SKCM-US 2 204062079 204062079 single base substitution C T missense_variant R2336C 7006C>T SKCM-US 2 204062079 204062079 single base substitution C T missense_variant R351C 1051C>T SKCM-US 2 204073420 204073420 single base substitution G A missense_variant E21K 61G>A SKCM-US 2 204073420 204073420 single base substitution G A missense_variant E2494K 7480G>A SKCM-US 2 204073420 204073420 single base substitution G A missense_variant E509K 1525G>A SKCM-US 2 204073989 204073989 deletion of <=200bp T - frameshift_variant S2548 SKCM-US 2 204073989 204073989 deletion of <=200bp T - frameshift_variant S563 SKCM-US 2 204073989 204073989 deletion of <=200bp T - frameshift_variant S75 SKCM-US 2 204075774 204075774 single base substitution G A missense_variant E125K 373G>A SKCM-US 2 204075774 204075774 single base substitution G A missense_variant E2598K 7792G>A SKCM-US 2 204075774 204075774 single base substitution G A missense_variant E613K 1837G>A SKCM-US 2 204078284 204078284 single base substitution C T missense_variant H158Y 472C>T SKCM-US 2 204078284 204078284 single base substitution C T missense_variant H2631Y 7891C>T SKCM-US 2 204078284 204078284 single base substitution C T missense_variant H646Y 1936C>T STAD-US 2 204000806 204000806 single base substitution T A missense_variant I1378N 4133T>A STAD-US 2 204001465 204001465 single base substitution A G synonymous_variant E1482E 4446A>G STAD-US 2 204003442 204003442 single base substitution C G missense_variant L1578V 4732C>G STAD-US 2 204034508 204034508 single base substitution T G missense_variant H1983Q 5949T>G STAD-US 2 204034508 204034508 single base substitution T G missense_variant H30Q 90T>G STAD-US 2 204037548 204037548 insertion of <=200bp - A frameshift_variant E2070R? STAD-US 2 204037548 204037548 insertion of <=200bp - A frameshift_variant E85R? STAD-US 2 204037549 204037549 insertion of <=200bp - A frameshift_variant E2070E? STAD-US 2 204037549 204037549 insertion of <=200bp - A frameshift_variant E85E? STAD-US 2 204037566 204037566 single base substitution A G missense_variant M2076V 6226A>G STAD-US 2 204037566 204037566 single base substitution A G missense_variant M91V 271A>G STAD-US 2 204045127 204045127 deletion of <=200bp T - frameshift_variant F149 STAD-US 2 204045127 204045127 deletion of <=200bp T - frameshift_variant F2134 STAD-US 2 204045127 204045127 deletion of <=200bp T - upstream_gene_variant STAD-US 2 204045236 204045236 single base substitution G A splice_donor_variant STAD-US 2 204045236 204045236 single base substitution G A upstream_gene_variant STAD-US 2 204055113 204055113 single base substitution G A exon_variant STAD-US 2 204055113 204055113 single base substitution G A splice_donor_variant STAD-US 2 204058623 204058623 deletion of <=200bp T - downstream_gene_variant STAD-US 2 204058623 204058623 deletion of <=200bp T - frameshift_variant F2314 STAD-US 2 204058623 204058623 deletion of <=200bp T - frameshift_variant F329 STAD-US 2 204073415 204073415 single base substitution C T missense_variant T19I 56C>T STAD-US 2 204073415 204073415 single base substitution C T missense_variant T2492I 7475C>T STAD-US 2 204073415 204073415 single base substitution C T missense_variant T507I 1520C>T STAD-US 2 204073897 204073897 single base substitution T G missense_variant I2517S 7550T>G STAD-US 2 204073897 204073897 single base substitution T G missense_variant I44S 131T>G STAD-US 2 204073897 204073897 single base substitution T G missense_variant I532S 1595T>G STAD-US 2 204075771 204075771 single base substitution G A missense_variant G124R 370G>A STAD-US 2 204075771 204075771 single base substitution G A missense_variant G2597R 7789G>A STAD-US 2 204075771 204075771 single base substitution G A missense_variant G612R 1834G>A THCA-SA 2 204016259 204016259 single base substitution C T missense_variant P1816L 5447C>T UCEC-US 2 203914576 203914576 single base substitution T C exon_variant UCEC-US 2 203914576 203914576 single base substitution T C synonymous_variant D61D 183T>C UCEC-US 2 203933115 203933115 single base substitution G T splice_acceptor_variant UCEC-US 2 203933136 203933136 single base substitution A G exon_variant UCEC-US 2 203933136 203933136 single base substitution A G missense_variant E179G 536A>G UCEC-US 2 203933140 203933140 single base substitution G T exon_variant UCEC-US 2 203933140 203933140 single base substitution G T missense_variant K180N 540G>T UCEC-US 2 203942514 203942514 single base substitution A C exon_variant UCEC-US 2 203942514 203942514 single base substitution A C missense_variant K213T 638A>C UCEC-US 2 203948035 203948035 single base substitution G T exon_variant UCEC-US 2 203948035 203948035 single base substitution G T stop_gained E260* 778G>T UCEC-US 2 203948035 203948035 single base substitution G T upstream_gene_variant UCEC-US 2 203972159 203972159 single base substitution G T missense_variant R400I 1199G>T UCEC-US 2 203972491 203972491 single base substitution G A missense_variant R481Q 1442G>A UCEC-US 2 203972576 203972576 single base substitution G T missense_variant E509D 1527G>T UCEC-US 2 203972697 203972697 single base substitution G A missense_variant V550M 1648G>A UCEC-US 2 203976738 203976738 single base substitution C T missense_variant P678S 2032C>T UCEC-US 2 203990703 203990703 single base substitution C A missense_variant L929I 2785C>A UCEC-US 2 203990780 203990780 single base substitution C A synonymous_variant S954S 2862C>A UCEC-US 2 203995130 203995130 single base substitution T C synonymous_variant N1136N 3408T>C UCEC-US 2 203995185 203995185 single base substitution G T stop_gained E1155* 3463G>T UCEC-US 2 203996722 203996722 single base substitution G A synonymous_variant T1168T 3504G>A UCEC-US 2 204000624 204000624 single base substitution C A synonymous_variant T1317T 3951C>A UCEC-US 2 204000669 204000669 single base substitution G T missense_variant E1332D 3996G>T UCEC-US 2 204000891 204000891 single base substitution G A synonymous_variant S1406S 4218G>A UCEC-US 2 204000926 204000926 single base substitution C T missense_variant T1418I 4253C>T UCEC-US 2 204001463 204001463 single base substitution G T stop_gained E1482* 4444G>T UCEC-US 2 204002960 204002960 single base substitution C T synonymous_variant N1518N 4554C>T UCEC-US 2 204009584 204009584 single base substitution G A missense_variant E1675K 5023G>A UCEC-US 2 204013738 204013738 single base substitution C T stop_gained R1748* 5242C>T UCEC-US 2 204016198 204016198 single base substitution C T missense_variant P1796S 5386C>T UCEC-US 2 204034491 204034491 single base substitution C T stop_gained R1978* 5932C>T UCEC-US 2 204034491 204034491 single base substitution C T stop_gained R25* 73C>T UCEC-US 2 204037515 204037515 single base substitution C T stop_gained R2059* 6175C>T UCEC-US 2 204037515 204037515 single base substitution C T stop_gained R74* 220C>T UCEC-US 2 204037556 204037556 single base substitution C T synonymous_variant N2072N 6216C>T UCEC-US 2 204037556 204037556 single base substitution C T synonymous_variant N87N 261C>T UCEC-US 2 204039938 204039938 single base substitution C A missense_variant S117Y 350C>A UCEC-US 2 204039938 204039938 single base substitution C A missense_variant S2102Y 6305C>A UCEC-US 2 204045184 204045184 single base substitution G T stop_gained E168* 502G>T UCEC-US 2 204045184 204045184 single base substitution G T stop_gained E2153* 6457G>T UCEC-US 2 204045184 204045184 single base substitution G T upstream_gene_variant UCEC-US 2 204048101 204048101 single base substitution G T exon_variant UCEC-US 2 204048101 204048101 single base substitution G T missense_variant R218M 653G>T UCEC-US 2 204048101 204048101 single base substitution G T missense_variant R2203M 6608G>T UCEC-US 2 204067505 204067505 single base substitution G A splice_donor_variant UCEC-US 2 204073435 204073435 single base substitution G A missense_variant G2499S 7495G>A UCEC-US 2 204073435 204073435 single base substitution G A missense_variant G26S 76G>A UCEC-US 2 204073435 204073435 single base substitution G A missense_variant G514S 1540G>A UCEC-US 2 204073899 204073899 single base substitution A G missense_variant I2518V 7552A>G UCEC-US 2 204073899 204073899 single base substitution A G missense_variant I45V 133A>G UCEC-US 2 204073899 204073899 single base substitution A G missense_variant I533V 1597A>G UCEC-US 2 204075790 204075790 single base substitution G A missense_variant G130D 389G>A UCEC-US 2 204075790 204075790 single base substitution G A missense_variant G2603D 7808G>A UCEC-US 2 204075790 204075790 single base substitution G A missense_variant G618D 1853G>A UCEC-US 2 204081998 204081998 single base substitution G A missense_variant R196Q 587G>A UCEC-US 2 204081998 204081998 single base substitution G A missense_variant R2669Q 8006G>A UCEC-US 2 204081998 204081998 single base substitution G A missense_variant R684Q 2051G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 060T COSM1730055 c.7337G>T p.C2446F Substitution - Missense 2:203202699-203202699 + TCGA-B5-A0JZ-01 COSM1015081 c.5278A>G p.M1760V Substitution - Missense 2:203149051-203149051 + pfg057T COSM1404625 c.397delA p.E136fs*14 Deletion - Frameshift 2:203057335-203057335 + TCGA-D8-A1JA-01 COSM2908308 c.5382G>A p.Q1794Q Substitution - coding silent 2:203151471-203151471 + PD22360a COSM5784194 c.3993G>A p.L1331L Substitution - coding silent 2:203135943-203135943 + TCGA-F5-6814-01 COSM3425959 c.2998T>C p.Y1000H Substitution - Missense 2:203126656-203126656 + C70 COSM4619520 c.2011G>T p.V671F Substitution - Missense 2:203111994-203111994 + BCM723T COSM4956377 c.3518G>A p.R1173H Substitution - Missense 2:203132013-203132013 + CSCC-6-T COSM4499600 c.5466C>T p.T1822T Substitution - coding silent 2:203151555-203151555 + HCC07T COSM131529 c.3082-2A>T p.? Unknown 2:203197300-203197300 + T3225 COSM1404643 c.6332G>A p.R2111H Substitution - Missense 2:203175242-203175242 + TCGA-FS-A4FC-06 COSM3576472 c.5606A>G p.D1869G Substitution - Missense 2:203157804-203157804 + TCGA-EI-6917-01 COSM1015089 c.2305C>T p.R769* Substitution - Nonsense 2:203172792-203172792 + 8066067 COSM3391403 c.2176G>T p.D726Y Substitution - Missense 2:203171958-203171958 + PCSI0048 COSM216545 c.3972C>T p.L1324L Substitution - coding silent 2:203211101-203211101 + 98735 COSM325918 c.4448T>G p.L1483R Substitution - Missense 2:203136744-203136744 + Pat_14_A COSM5861539 c.6399G>T p.Q2133H Substitution - Missense 2:203180403-203180403 + 2293776 COSM4607761 c.2705C>A p.A902D Substitution - Missense 2:203183345-203183345 + 61 COSM5736390 c.1189G>A p.E397K Substitution - Missense 2:203144897-203144897 + TCGA-EK-A3GJ-01 COSM4852553 c.3742C>T p.Q1248* Substitution - Nonsense 2:203135692-203135692 + TCGA-A2-A0D4-01 COSM442142 c.4433G>T p.G1478V Substitution - Missense 2:203136729-203136729 + LS411 COSM2908194 c.87_88delTT p.F30fs*3 Deletion - Frameshift 2:203041800-203041801 + sysucc-880T COSM5463068 c.4740C>T p.F1580F Substitution - coding silent 2:203138727-203138727 + BD111T COSM1015057 c.1648G>A p.V550M Substitution - Missense 2:203107974-203107974 + COLO201 COSM4621338 c.1576G>T p.E526* Substitution - Nonsense 2:203107902-203107902 + CSCC-37-T COSM4506373 c.3313C>T p.P1105S Substitution - Missense 2:203201574-203201574 + AOCS-135-3-1 COSM4139193 c.1249C>A p.P417T Substitution - Missense 2:203107486-203107486 + HX12T COSM1614177 c.3145A>G p.M1049V Substitution - Missense 2:203197365-203197365 + S01563 COSM5670035 c.1444delC p.R483fs*29 Deletion - Frameshift 2:203149087-203149087 + PT46 COSM5928319 c.3878C>T p.S1293F Substitution - Missense 2:203211007-203211007 + C0075T COSM4154756 c.3177T>G p.Y1059* Substitution - Nonsense 2:203127796-203127796 + TCGA-D1-A17Q-01 COSM1015074 c.574G>T p.E192* Substitution - Nonsense 2:203136740-203136740 + TCGA-AN-A0XW-01 COSM442140 c.2673G>C p.Q891H Substitution - Missense 2:203125429-203125429 + TCGA-BT-A3PJ-01 COSM3798531 c.7863C>G p.I2621M Substitution - Missense 2:203213533-203213533 + TCGA-EE-A2GD-06 COSM3576469 c.798G>T p.L266L Substitution - coding silent 2:203138655-203138655 + TCGA-D8-A1XT-01 COSM1482666 c.6138T>G p.T2046T Substitution - coding silent 2:203172755-203172755 + PD18749a COSM5780604 c.5734C>G p.Q1912E Substitution - Missense 2:203166255-203166255 + TCGA-BS-A0UV-01 COSM1015084 c.1516C>T p.P506S Substitution - Missense 2:203151475-203151475 + TCGA-G4-6628-01 COSM1404650 c.3070delT p.F1025fs*2 Deletion - Frameshift 2:203193900-203193900 + T155 COSM1177441 c.2796C>A p.I932I Substitution - coding silent 2:203188519-203188519 + sysucc-880T COSM5463069 c.870C>T p.F290F Substitution - coding silent 2:203138727-203138727 + AOCS-064-3-3 COSM1015112 c.8006G>A p.R2669Q Substitution - Missense 2:203217275-203217275 + sysucc-1163T COSM5458904 c.3920G>A p.G1307E Substitution - Missense 2:203211049-203211049 + HCC07T COSM131528 c.6952-2A>T p.? Unknown 2:203197300-203197300 + CHEWS019 COSM4583095 c.4755_4757delTTT p.N1585_L1586>K Complex - deletion inframe 2:203138742-203138744 + CSCC-35-T COSM4469166 c.1585C>T p.R529C Substitution - Missense 2:203107911-203107911 + T3058 COSM4705652 c.8029C>T p.R2677W Substitution - Missense 2:203217298-203217298 + HT55 COSM2908203 c.610G>A p.E204K Substitution - Missense 2:203077763-203077763 + TCGA-AP-A051-01 COSM1015069 c.4218G>A p.S1406S Substitution - coding silent 2:203136168-203136168 + TCGA-IR-A3LH-01 COSM4833472 c.413C>G p.S138C Substitution - Missense 2:203136233-203136233 + 1848_T COSM3962198 c.3164A>G p.N1055S Substitution - Missense 2:203127783-203127783 + Pat_05_B COSM5861537 c.4822C>T p.Q1608* Substitution - Nonsense 2:203144660-203144660 + ESO-887 COSM1258755 c.195C>G p.F65L Substitution - Missense 2:203136015-203136015 + TCGA-AZ-4615-01 COSM1404625 c.397delA p.E136fs*14 Deletion - Frameshift 2:203057335-203057335 + 1 COSM4169892 c.6454A>C p.K2152Q Substitution - Missense 2:203180458-203180458 + TCGA-AA-A00N-01 COSM276261 c.2461C>T p.R821C Substitution - Missense 2:203175241-203175241 + GCT05 COSM5749156 c.6527T>G p.L2176R Substitution - Missense 2:203183297-203183297 + TCGA-D1-A103-01 COSM1015112 c.8006G>A p.R2669Q Substitution - Missense 2:203217275-203217275 + BD165T COSM5506709 c.2878C>T p.L960L Substitution - coding silent 2:203190303-203190303 + PT52 COSM5938909 c.2126C>T p.S709F Substitution - Missense 2:203113025-203113025 + TCGA-AX-A0J0-01 COSM1015055 c.1442G>A p.R481Q Substitution - Missense 2:203107768-203107768 + TCGA-F5-6814-01 COSM3425968 c.7370T>G p.I2457S Substitution - Missense 2:203202732-203202732 + YURAY COSM5395970 c.2412T>C p.Y804Y Substitution - coding silent 2:203113311-203113311 + LUAD_E00623 COSM354276 c.3083_3084GG>AT p.G1028>? Complex 2:203197303-203197304 + SC_9050 COSM5556863 c.3626T>A p.I1209N Substitution - Missense 2:203132121-203132121 + TCGA-FR-A3YN-06 COSM3576495 c.7792G>A p.E2598K Substitution - Missense 2:203211051-203211051 + TCGA-D1-A103-01 COSM1015093 c.2435C>A p.S812Y Substitution - Missense 2:203175215-203175215 + TCGA-BR-7707-01 COSM4090332 c.6226A>G p.M2076V Substitution - Missense 2:203172843-203172843 + TCGA-AX-A0J0-01 COSM1015047 c.183T>C p.D61D Substitution - coding silent 2:203049853-203049853 + LUAD-NYU284 COSM373021 c.4422A>T p.L1474L Substitution - coding silent 2:203136718-203136718 + 587284 COSM1216710 c.1286T>C p.V429A Substitution - Missense 2:203107612-203107612 + TCGA-AP-A059-01 COSM1015075 c.4554C>T p.N1518N Substitution - coding silent 2:203138237-203138237 + NPC7D COSM4996178 c.2688G>C p.K896N Substitution - Missense 2:203125444-203125444 + TCGA-AP-A056-01 COSM1015101 c.2738G>T p.R913M Substitution - Missense 2:203183378-203183378 + TCGA-CA-6717-01 COSM1404658 c.4079A>C p.K1360T Substitution - Missense 2:203213619-203213619 + TCGA-EI-6917-01 COSM1015088 c.6175C>T p.R2059* Substitution - Nonsense 2:203172792-203172792 + SS6003323 COSM3414358 c.2334C>T p.P778P Substitution - coding silent 2:203113233-203113233 + I2L-P7-Tumor-Organoid COSM5354832 c.6308C>T p.A2103V Substitution - Missense 2:203175218-203175218 + TCGA-AP-A0LM-01 COSM1015067 c.3996G>T p.E1332D Substitution - Missense 2:203135946-203135946 + HCT15 COSM2908234 c.2690A>T p.N897I Substitution - Missense 2:203125446-203125446 + HCT15 COSM2908335 c.2040G>T p.E680D Substitution - Missense 2:203167360-203167360 + TCGA-C5-A1BQ-01 COSM4841815 c.920C>T p.S307L Substitution - Missense 2:203083454-203083454 + TCGA-CG-5728-01 COSM3391405 c.3919G>A p.G1307R Substitution - Missense 2:203211048-203211048 + YUKAT COSM5395974 c.2348C>T p.A783V Substitution - Missense 2:203172835-203172835 + TCGA-AX-A05Z-01 COSM1015072 c.383C>T p.T128I Substitution - Missense 2:203136203-203136203 + 413 COSM4431198 c.1290A>G p.L430L Substitution - coding silent 2:203145103-203145103 + CRC-02T COSM5454970 c.3627C>T p.G1209G Substitution - coding silent 2:203208714-203208714 + Pat_05_B COSM5861543 c.8059G>A p.E2687K Substitution - Missense 2:203217328-203217328 + TCGA-CG-5717-01 COSM4090326 c.4732C>G p.L1578V Substitution - Missense 2:203138719-203138719 + CHC1209T COSM4804618 c.1089G>A p.M363I Substitution - Missense 2:203144797-203144797 + TCGA-G7-6793-01 COSM3990990 c.3022G>T p.D1008Y Substitution - Missense 2:203193852-203193852 + TCGA-Q1-A73O-01 COSM4834753 c.851C>G p.S284C Substitution - Missense 2:203083385-203083385 + SNU-175 COSM2908196 c.175C>A p.L59I Substitution - Missense 2:203049845-203049845 + TCGA-EE-A2GC-06 COSM3576479 c.5998G>A p.A2000T Substitution - Missense 2:203169834-203169834 + TCGA-AN-A046-01 COSM3838340 c.652G>T p.E218* Substitution - Nonsense 2:203138205-203138205 + DN11190 COSM5796875 c.2243C>T p.S748L Substitution - Missense 2:203113142-203113142 + TCGA-BH-A1F2-01 COSM1482664 c.5704G>T p.V1902L Substitution - Missense 2:203166225-203166225 + TCGA-EE-A2MR-06 COSM3576462 c.2252C>T p.S751F Substitution - Missense 2:203113151-203113151 + PD4847a COSM5778116 c.1419T>C p.I473I Substitution - coding silent 2:203107745-203107745 + TCGA-AX-A05Z-01 COSM1015077 c.5023G>A p.E1675K Substitution - Missense 2:203144861-203144861 + TCGA-IR-A3LH-01 COSM4833471 c.4283C>G p.S1428C Substitution - Missense 2:203136233-203136233 + NB2388 COSM5703173 c.2604C>A p.F868L Substitution - Missense 2:203180478-203180478 + 2492729 COSM5728055 c.3412C>T p.L1138F Substitution - Missense 2:203201673-203201673 + TCGA-AX-A0J0-01 COSM1015052 c.778G>T p.E260* Substitution - Nonsense 2:203083312-203083312 + J10_T COSM3962199 c.3502A>C p.T1168P Substitution - Missense 2:203131997-203131997 + 229 COSM3722712 c.4149G>A p.M1383I Substitution - Missense 2:203136099-203136099 + RK308_C01 COSM3743522 c.368C>T p.T123I Substitution - Missense 2:203056489-203056489 + TCGA-AG-A002-01 COSM262307 c.3788T>C p.I1263T Substitution - Missense 2:203209282-203209282 + TCGA-FV-A496-01 COSM4939177 c.7359A>T p.G2453G Substitution - coding silent 2:203202721-203202721 + TCGA-BR-7707-01 COSM4090333 c.2356A>G p.M786V Substitution - Missense 2:203172843-203172843 + BD72T COSM1404625 c.397delA p.E136fs*14 Deletion - Frameshift 2:203057335-203057335 + RK134_C01 COSM3702108 c.469A>G p.I157V Substitution - Missense 2:203136635-203136635 + TCGA-AP-A056-01 COSM1015107 c.3682A>G p.I1228V Substitution - Missense 2:203209176-203209176 + NCI-H322M COSM1669671 c.6763G>T p.D2255Y Substitution - Missense 2:203190318-203190318 + TCGA-CG-5717-01 COSM4090327 c.862C>G p.L288V Substitution - Missense 2:203138719-203138719 + TCGA-AB-2945-03 COSM1318118 c.6434T>C p.M2145T Substitution - Missense 2:203180438-203180438 + 587376 COSM1216712 c.4100A>G p.N1367S Substitution - Missense 2:203136050-203136050 + Pat_05_B COSM5861544 c.4189G>A p.E1397K Substitution - Missense 2:203217328-203217328 + TCGA-DR-A0ZM-01 COSM461193 c.3885C>G p.I1295M Substitution - Missense 2:203211014-203211014 + RK054_C01 COSM1631745 c.5022A>G p.Q1674Q Substitution - coding silent 2:203144860-203144860 + SNU-175 COSM2908361 c.2339delA p.N782fs*5 Deletion - Frameshift 2:203172826-203172826 + CSCC-41-T COSM4508628 c.3959C>G p.S1320C Substitution - Missense 2:203211088-203211088 + TCGA-B5-A0JY-01 COSM1015102 c.7419+1G>A p.? Unknown 2:203202782-203202782 + TCGA-CM-6171-01 COSM1404655 c.7682delA p.K2562fs*15 Deletion - Frameshift 2:203209306-203209306 + CRC-02T COSM5454968 c.940G>T p.V314L Substitution - Missense 2:203144648-203144648 + TCGA-F5-6814-01 COSM3425967 c.2210G>A p.R737Q Substitution - Missense 2:203171992-203171992 + TCGA-AA-A010-01 COSM283121 c.2311C>A p.L771I Substitution - Missense 2:203172798-203172798 + TCGA-AA-3510-01 COSM1404637 c.1945C>T p.R649* Substitution - Nonsense 2:203167265-203167265 + TCGA-AA-3510-01 COSM1404653 c.7121T>C p.F2374S Substitution - Missense 2:203199417-203199417 + TCGA-CA-6717-01 COSM1404657 c.7949A>C p.K2650T Substitution - Missense 2:203213619-203213619 + 250LT COSM4381630 c.2414A>T p.Y805F Substitution - Missense 2:203175194-203175194 + CSCC-27-T COSM4507670 c.7532C>T p.S2511L Substitution - Missense 2:203208749-203208749 + TCGA-D1-A103-01 COSM1015095 c.2587G>T p.E863* Substitution - Nonsense 2:203180461-203180461 + TCGA-AP-A0LM-01 COSM1015058 c.2032C>T p.P678S Substitution - Missense 2:203112015-203112015 + Patient_3_Relapse COSM5415209 c.7324G>A p.D2442N Substitution - Missense 2:203201715-203201715 + TCGA-EK-A2RJ-01 COSM4832112 c.1444C>G p.L482V Substitution - Missense 2:203149087-203149087 + TCGA-F5-6814-01 COSM3425960 c.4881G>T p.K1627N Substitution - Missense 2:203144719-203144719 + BD180T COSM5494965 c.4478+1G>T p.? Unknown 2:203136775-203136775 + HCT8 COSM2908234 c.2690A>T p.N897I Substitution - Missense 2:203125446-203125446 + PCSI_0105_Pa_P_526 COSM4962117 c.1249G>C p.E417Q Substitution - Missense 2:203145062-203145062 + RMS110_ COSM4987199 c.2322A>C p.E774D Substitution - Missense 2:203113221-203113221 + HCC35 COSM1614169 c.2570A>G p.N857S Substitution - Missense 2:203122318-203122318 + 587376 COSM1015095 c.2587G>T p.E863* Substitution - Nonsense 2:203180461-203180461 + TCGA-BS-A0UF-01 COSM1015109 c.3938G>A p.G1313D Substitution - Missense 2:203211067-203211067 + TCGA-D5-5538-01 COSM1404647 c.6829T>C p.L2277L Substitution - coding silent 2:203190384-203190384 + A549 COSM1193293 c.7474A>G p.T2492A Substitution - Missense 2:203208691-203208691 + TCGA-D1-A17R-01 COSM1015099 c.2696C>T p.P899L Substitution - Missense 2:203183336-203183336 + CSCC-32-T COSM4503998 c.2667C>T p.S889S Substitution - coding silent 2:203183307-203183307 + ESCC_8 COSM5623488 c.7459A>T p.I2487F Substitution - Missense 2:203208676-203208676 + DN1401F COSM5960874 c.2137T>A p.L713M Substitution - Missense 2:203169843-203169843 + TCGA-AP-A056-01 COSM1015100 c.6608G>T p.R2203M Substitution - Missense 2:203183378-203183378 + ESCC-134T COSM3938878 c.2737A>T p.R913W Substitution - Missense 2:203183377-203183377 + CSCC-29-T COSM4475475 c.1992C>T p.L664L Substitution - coding silent 2:203110279-203110279 + PT37 COSM5917689 c.4921C>T p.R1641C Substitution - Missense 2:203144759-203144759 + TCGA-EE-A2MU-06 COSM3576459 c.978G>T p.Q326H Substitution - Missense 2:203083512-203083512 + PD18749a COSM5780605 c.1864C>G p.Q622E Substitution - Missense 2:203166255-203166255 + AOCS-135-8-X COSM4139193 c.1249C>A p.P417T Substitution - Missense 2:203107486-203107486 + PR-1701 COSM220053 c.2614G>C p.G872R Substitution - Missense 2:203125370-203125370 + HCT15 COSM2908414 c.3437A>G p.H1146R Substitution - Missense 2:203201698-203201698 + 12T COSM109306 c.6970C>T p.P2324S Substitution - Missense 2:203197320-203197320 + Gp5D COSM2908222 c.2285T>C p.I762T Substitution - Missense 2:203113184-203113184 + TCGA-CS-6666-01 COSM3971964 c.849G>C p.Q283H Substitution - Missense 2:203138706-203138706 + TCGA-AX-A0J0-01 COSM1015051 c.638A>C p.K213T Substitution - Missense 2:203077791-203077791 + 8015085 COSM3391404 c.7789G>A p.G2597R Substitution - Missense 2:203211048-203211048 + TCGA-BR-4361-01 COSM4090324 c.4446A>G p.E1482E Substitution - coding silent 2:203136742-203136742 + UM-SCC-2 COSM4599449 c.5557G>T p.V1853L Substitution - Missense 2:203157755-203157755 + 587376 COSM1015094 c.6457G>T p.E2153* Substitution - Nonsense 2:203180461-203180461 + TCGA-AP-A05N-01 COSM1015111 c.3977G>T p.S1326I Substitution - Missense 2:203211106-203211106 + TCGA-EB-A430-01 COSM3576487 c.6507T>G p.N2169K Substitution - Missense 2:203180511-203180511 + BCM423T COSM4802560 c.2586G>T p.W862C Substitution - Missense 2:203122334-203122334 + TCGA-A4-7996-01 COSM3990987 c.6244A>T p.N2082Y Substitution - Missense 2:203175154-203175154 + PCSI_0142_Pa_P_526 COSM4808318 c.2836A>C p.I946L Substitution - Missense 2:203126031-203126031 + 35M COSM5581804 c.820C>T p.P274S Substitution - Missense 2:203138677-203138677 + TCGA-EE-A2MR-06 COSM3576494 c.3610G>A p.E1204K Substitution - Missense 2:203208697-203208697 + Gp2D COSM4627971 c.7747T>C p.S2583P Substitution - Missense 2:203211006-203211006 + TCGA-BP-4167-01 COSM1136572 c.3903A>G p.E1301E Substitution - coding silent 2:203135853-203135853 + TCGA-FR-A3YN-06 COSM3576496 c.3922G>A p.E1308K Substitution - Missense 2:203211051-203211051 + LUAD-5O6B5 COSM330707 c.6504A>G p.Q2168Q Substitution - coding silent 2:203180508-203180508 + TCGA-D8-A1JA-01 COSM2908309 c.1512G>A p.Q504Q Substitution - coding silent 2:203151471-203151471 + Gp5D COSM2908406 c.3279A>G p.P1093P Substitution - coding silent 2:203199445-203199445 + TCGA-CG-5728-01 COSM4090337 c.6508+1G>A p.? Unknown 2:203180513-203180513 + TCGA-AT-A5NU-01 COSM4414142 c.1790G>A p.W597* Substitution - Nonsense 2:203108116-203108116 + 3584_T COSM3962203 c.2462G>C p.R821P Substitution - Missense 2:203175242-203175242 + 585208 COSM325920 c.5280G>T p.M1760I Substitution - Missense 2:203149053-203149053 + CHEWS019 COSM4583096 c.885_887delTTT p.N295_L296>K Complex - deletion inframe 2:203138742-203138744 + HCC35T COSM1614174 c.5196G>A p.G1732G Substitution - coding silent 2:203145139-203145139 + Gp2D COSM2908405 c.7149A>G p.P2383P Substitution - coding silent 2:203199445-203199445 + 2492729 COSM5728053 c.3212G>A p.W1071* Substitution - Nonsense 2:203199378-203199378 + TCGA-B0-4703-01 COSM3364504 c.2003T>C p.I668T Substitution - Missense 2:203111986-203111986 + TCGA-AX-A05Z-01 COSM1015071 c.4253C>T p.T1418I Substitution - Missense 2:203136203-203136203 + TCGA-DK-A3WW-01 COSM3798529 c.628G>C p.E210Q Substitution - Missense 2:203138181-203138181 + ATL050 COSM5708008 c.4957A>T p.M1653L Substitution - Missense 2:203144795-203144795 + CLL033 COSM1291413 c.4538C>T p.P1513L Substitution - Missense 2:203138221-203138221 + TCGA-AA-3510-01 COSM1404654 c.3251T>C p.F1084S Substitution - Missense 2:203199417-203199417 + T3091 COSM4705646 c.5933G>A p.R1978Q Substitution - Missense 2:203169769-203169769 + 2492730 COSM5729370 c.5184C>T p.D1728D Substitution - coding silent 2:203145127-203145127 + CSCC-27-T COSM4507671 c.3662C>T p.S1221L Substitution - Missense 2:203208749-203208749 + T166 COSM307499 c.1296delA p.N433fs*33 Deletion - Frameshift 2:203145109-203145109 + TCGA-D1-A163-01 COSM1015053 c.1133C>T p.S378L Substitution - Missense 2:203099663-203099663 + TCGA-BP-4787-01 COSM3364506 c.6278T>A p.F2093Y Substitution - Missense 2:203175188-203175188 + TCGA-AP-A0LM-01 COSM1015049 c.536A>G p.E179G Substitution - Missense 2:203068413-203068413 + TCGA-C5-A1BQ-01 COSM4842145 c.934C>T p.Q312* Substitution - Nonsense 2:203083468-203083468 + 587220 COSM1216707 c.454G>A p.A152T Substitution - Missense 2:203057392-203057392 + SC_9047 COSM5561572 c.4200A>G p.P1400P Substitution - coding silent 2:203136150-203136150 + PCSI0048 COSM216546 c.7842C>T p.L2614L Substitution - coding silent 2:203211101-203211101 + TCGA-EJ-5530-01 COSM1129379 c.2429C>G p.S810* Substitution - Nonsense 2:203175209-203175209 + TCGA-EE-A29D-06 COSM3576465 c.2985C>T p.L995L Substitution - coding silent 2:203126643-203126643 + ATL083 COSM2908199 c.404A>G p.K135R Substitution - Missense 2:203057342-203057342 + TCGA-G4-6588-01 COSM1404628 c.1437G>T p.Q479H Substitution - Missense 2:203107763-203107763 + TCGA-DK-A3IV-01 COSM1306327 c.3079G>C p.E1027Q Substitution - Missense 2:203193909-203193909 + TCGA-BR-8680-01 COSM4090330 c.5949T>G p.H1983Q Substitution - Missense 2:203169785-203169785 + TCGA-AG-A002-01 COSM262308 c.7658T>C p.I2553T Substitution - Missense 2:203209282-203209282 + TCGA-BR-8680-01 COSM4090343 c.7550T>G p.I2517S Substitution - Missense 2:203209174-203209174 + SC_9047 COSM5561573 c.330A>G p.P110P Substitution - coding silent 2:203136150-203136150 + TCGA-AK-3451-01 COSM476773 c.7415A>G p.Q2472R Substitution - Missense 2:203202777-203202777 + UD-SCC-2 COSM1404626 c.518G>A p.R173Q Substitution - Missense 2:203068395-203068395 + PD13760a COSM5786867 c.288T>A p.S96R Substitution - Missense 2:203136108-203136108 + TCGA-06-0173-01 COSM3407497 c.638T>C p.I213T Substitution - Missense 2:203138191-203138191 + RKO COSM2908210 c.876T>C p.S292S Substitution - coding silent 2:203083410-203083410 + CSCC-11-T COSM4505341 c.3033C>T p.T1011T Substitution - coding silent 2:203193863-203193863 + YUKAT COSM5395973 c.6218C>T p.A2073V Substitution - Missense 2:203172835-203172835 + TCGA-AP-A059-01 COSM1015065 c.3951C>A p.T1317T Substitution - coding silent 2:203135901-203135901 + HCC35T COSM1614175 c.1326G>A p.G442G Substitution - coding silent 2:203145139-203145139 + TCGA-AX-A0J0-01 COSM1015079 c.5242C>T p.R1748* Substitution - Nonsense 2:203149015-203149015 + TCGA-F5-6864-01 COSM1404625 c.397delA p.E136fs*14 Deletion - Frameshift 2:203057335-203057335 + CPCG0259-F1 COSM4880008 c.6038C>G p.S2013* Substitution - Nonsense 2:203171950-203171950 + PCSI_0090_Pa_P COSM3380003 c.8026A>G p.K2676E Substitution - Missense 2:203217295-203217295 + T3058 COSM4705653 c.4159C>T p.R1387W Substitution - Missense 2:203217298-203217298 + TCGA-FW-A3R5-06 COSM3909353 c.4575C>T p.I1525I Substitution - coding silent 2:203138258-203138258 + DN1401F COSM5960873 c.6007T>A p.L2003M Substitution - Missense 2:203169843-203169843 + 587376 COSM1216713 c.230A>G p.N77S Substitution - Missense 2:203136050-203136050 + TCGA-EE-A2MJ-06 COSM3576463 c.2422C>T p.P808S Substitution - Missense 2:203115987-203115987 + TCGA-AP-A0LM-01 COSM1015088 c.6175C>T p.R2059* Substitution - Nonsense 2:203172792-203172792 + ESCC_111 COSM5639344 c.2295G>C p.L765F Substitution - Missense 2:203113194-203113194 + C086 COSM5535217 c.2634T>A p.F878L Substitution - Missense 2:203125390-203125390 + BD236T COSM5518368 c.1863_1864insT p.T624fs*8 Insertion - Frameshift 2:203110150-203110151 + CSCC-16-T COSM4516494 c.1971_1972CC>TT p.H658Y Substitution - Missense 2:203110258-203110259 + CSCC-41-T COSM1015050 c.540G>T p.K180N Substitution - Missense 2:203068417-203068417 + CLL033 COSM1291414 c.668C>T p.P223L Substitution - Missense 2:203138221-203138221 + BD245T COSM5519967 c.1284A>G p.E428E Substitution - coding silent 2:203145097-203145097 + TCGA-18-3412-01 COSM719721 c.1987C>T p.L663F Substitution - Missense 2:203167307-203167307 + GC1_T COSM3748726 c.2306G>C p.G769A Substitution - Missense 2:203113205-203113205 + ESCC_BICR_022T COSM5443053 c.3854A>G p.H1285R Substitution - Missense 2:203135804-203135804 + QC2-03-T2 COSM5651685 c.7806A>T p.T2602T Substitution - coding silent 2:203211065-203211065 + TCGA-AK-3451-01 COSM476774 c.3545A>G p.Q1182R Substitution - Missense 2:203202777-203202777 + LUAD-B02594 COSM356477 c.425G>A p.S142N Substitution - Missense 2:203136245-203136245 + 2293776 COSM4607760 c.6575C>A p.A2192D Substitution - Missense 2:203183345-203183345 + TCGA-BS-A0UV-01 COSM1015091 c.2346C>T p.N782N Substitution - coding silent 2:203172833-203172833 + TCGA-FW-A3R5-06 COSM3909354 c.705C>T p.I235I Substitution - coding silent 2:203138258-203138258 + TCGA-B5-A11E-01 COSM1015048 c.516-1G>T p.? Unknown 2:203068392-203068392 + TCGA-AX-A0J0-01 COSM1015080 c.1372C>T p.R458* Substitution - Nonsense 2:203149015-203149015 + CRC-19T COSM3425958 c.943T>C p.S315P Substitution - Missense 2:203083477-203083477 + J33_T COSM3962200 c.4632+5A>G p.? Unknown 2:203138320-203138320 + TCGA-GN-A266-06 COSM1404636 c.5815C>T p.R1939* Substitution - Nonsense 2:203167265-203167265 + 063-0127-01TD COSM145666 c.7048A>G p.I2350V Substitution - Missense 2:203199344-203199344 + PCSI_0048_Pa_P COSM216546 c.7842C>T p.L2614L Substitution - coding silent 2:203211101-203211101 + TCGA-AX-A0J0-01 COSM1015062 c.3408T>C p.N1136N Substitution - coding silent 2:203130407-203130407 + TCGA-EE-A2MD-06 COSM3576466 c.3883G>A p.D1295N Substitution - Missense 2:203135833-203135833 + BD165T COSM5506708 c.6748C>T p.L2250L Substitution - coding silent 2:203190303-203190303 + D28 COSM5545379 c.6885C>T p.T2295T Substitution - coding silent 2:203193845-203193845 + sysucc-311T COSM5465371 c.1267G>T p.E423* Substitution - Nonsense 2:203107504-203107504 + ESCC_BICR_033T COSM5439734 c.5766A>T p.E1922D Substitution - Missense 2:203166287-203166287 + TCGA-G2-A3IE-01 COSM1306321 c.5399A>T p.K1800M Substitution - Missense 2:203151488-203151488 + PT23_1 COSM5902567 c.759G>A p.W253* Substitution - Nonsense 2:203083293-203083293 + 2293763 COSM4607027 c.1376C>T p.S459F Substitution - Missense 2:203107702-203107702 + S02322 COSM5691376 c.1166C>G p.S389* Substitution - Nonsense 2:203144874-203144874 + YULONE COSM5395975 c.6331C>G p.R2111G Substitution - Missense 2:203175241-203175241 + TCGA-F5-6814-01 COSM3425964 c.5656G>T p.E1886* Substitution - Nonsense 2:203166177-203166177 + RK054_C01 COSM1631746 c.1152A>G p.Q384Q Substitution - coding silent 2:203144860-203144860 + LUAD-RT-S01813 COSM383287 c.677C>T p.A226V Substitution - Missense 2:203138230-203138230 + 4132_T COSM3962206 c.7458G>T p.Q2486H Substitution - Missense 2:203208675-203208675 + 587332 COSM1216709 c.3995A>G p.N1332S Substitution - Missense 2:203213535-203213535 + 585208 COSM325919 c.1410G>T p.M470I Substitution - Missense 2:203149053-203149053 + TCGA-D1-A103-01 COSM1015094 c.6457G>T p.E2153* Substitution - Nonsense 2:203180461-203180461 + 063 COSM145666 c.7048A>G p.I2350V Substitution - Missense 2:203199344-203199344 + TCGA-DR-A0ZM-01 COSM461192 c.7755C>G p.I2585M Substitution - Missense 2:203211014-203211014 + TCGA-AZ-4315-01 COSM1404641 c.6247T>G p.F2083V Substitution - Missense 2:203175157-203175157 + PT52 COSM5938906 c.7429C>T p.P2477S Substitution - Missense 2:203208646-203208646 + HCC100 COSM1614172 c.4895T>C p.I1632T Substitution - Missense 2:203144733-203144733 + C086 COSM2908232 c.2636C>T p.P879L Substitution - Missense 2:203125392-203125392 + DLD1 COSM2908335 c.2040G>T p.E680D Substitution - Missense 2:203167360-203167360 + TCGA-C5-A1MK-01 COSM4826900 c.3694C>T p.Q1232* Substitution - Nonsense 2:203209188-203209188 + UM-SCC-2 COSM4599450 c.1687G>T p.V563L Substitution - Missense 2:203157755-203157755 + TCGA-AA-A010-01 COSM283122 c.6181C>A p.L2061I Substitution - Missense 2:203172798-203172798 + TCGA-AN-A046-01 COSM1404636 c.5815C>T p.R1939* Substitution - Nonsense 2:203167265-203167265 + PD24191a COSM5784512 c.217T>C p.F73L Substitution - Missense 2:203136037-203136037 + TCGA-AN-A046-01 COSM1404637 c.1945C>T p.R649* Substitution - Nonsense 2:203167265-203167265 + HT115 COSM2908192 c.4G>A p.A2T Substitution - Missense 2:203016388-203016388 + 522_T COSM3962204 c.6368A>G p.Q2123R Substitution - Missense 2:203175278-203175278 + HCT15 COSM2908240 c.3145C>A p.L1049I Substitution - Missense 2:203126910-203126910 + CSCC-41-T COSM4508627 c.7829C>G p.S2610C Substitution - Missense 2:203211088-203211088 + SNU-175 COSM2908360 c.6209delA p.N2072fs*5 Deletion - Frameshift 2:203172826-203172826 + TCGA-B5-A0JY-01 COSM1015103 c.3549+1G>A p.? Unknown 2:203202782-203202782 + PCSI_0048_Pa_P_526 COSM216545 c.3972C>T p.L1324L Substitution - coding silent 2:203211101-203211101 + LUAD-S01357 COSM387200 c.7880G>A p.R2627Q Substitution - Missense 2:203213550-203213550 + TCGA-ER-A19Q-06 COSM3576491 c.7006C>T p.R2336C Substitution - Missense 2:203197356-203197356 + TCGA-CG-4449-01 COSM4090323 c.263T>A p.I88N Substitution - Missense 2:203136083-203136083 + CSCC-11-T COSM4505340 c.6903C>T p.T2301T Substitution - coding silent 2:203193863-203193863 + TCGA-GN-A263-01 COSM3576483 c.6391G>A p.D2131N Substitution - Missense 2:203180395-203180395 + S02322 COSM5691375 c.5036C>G p.S1679* Substitution - Nonsense 2:203144874-203144874 + TCGA-CM-6171-01 COSM1404656 c.3812delA p.K1272fs*15 Deletion - Frameshift 2:203209306-203209306 + LUAD-S01357 COSM387201 c.4010G>A p.R1337Q Substitution - Missense 2:203213550-203213550 + 255 COSM2908353 c.2270C>T p.S757L Substitution - Missense 2:203172757-203172757 + CHC2206T COSM4956919 c.745G>A p.D249N Substitution - Missense 2:203083279-203083279 + 2492729 COSM5728051 c.1699C>T p.L567F Substitution - Missense 2:203108025-203108025 + 1604875 COSM141013 c.3203C>T p.T1068I Substitution - Missense 2:203199369-203199369 + TCGA-LP-A5U2-01 COSM4833691 c.2739G>C p.R913S Substitution - Missense 2:203183379-203183379 + 49M COSM5592053 c.1989C>T p.S663S Substitution - coding silent 2:203110276-203110276 + TCGA-34-5231-01 COSM719715 c.3322G>C p.E1108Q Substitution - Missense 2:203201583-203201583 + 202_T COSM3962197 c.1183G>T p.E395* Substitution - Nonsense 2:203107420-203107420 + YUPAER COSM5395969 c.2333C>T p.P778L Substitution - Missense 2:203113232-203113232 + CHC1209T COSM4804617 c.4959G>A p.M1653I Substitution - Missense 2:203144797-203144797 + Pat_05_A COSM5861537 c.4822C>T p.Q1608* Substitution - Nonsense 2:203144660-203144660 + LUAD-RT-S01813 COSM383286 c.4547C>T p.A1516V Substitution - Missense 2:203138230-203138230 + HCC35T COSM1614169 c.2570A>G p.N857S Substitution - Missense 2:203122318-203122318 + TCGA-DK-A3WW-01 COSM3798528 c.4498G>C p.E1500Q Substitution - Missense 2:203138181-203138181 + Gp2D COSM2908406 c.3279A>G p.P1093P Substitution - coding silent 2:203199445-203199445 + TCGA-AP-A059-01 COSM1015060 c.2785C>A p.L929I Substitution - Missense 2:203125980-203125980 + HCC2998 COSM1669670 c.1954C>A p.H652N Substitution - Missense 2:203167274-203167274 + T155 COSM1177440 c.6666C>A p.I2222I Substitution - coding silent 2:203188519-203188519 + TCGA-28-2513-01 COSM3407495 c.3866T>C p.V1289A Substitution - Missense 2:203135816-203135816 + 417 COSM4431698 c.3980A>G p.D1327G Substitution - Missense 2:203135930-203135930 + BD245T COSM5519966 c.5154A>G p.E1718E Substitution - coding silent 2:203145097-203145097 + TCGA-DM-A1D7-01 COSM1404638 c.5932C>A p.R1978R Substitution - coding silent 2:203169768-203169768 + HCC18 COSM1614171 c.822A>C p.P274P Substitution - coding silent 2:203138679-203138679 + TCGA-F5-6814-01 COSM3425961 c.1011G>T p.K337N Substitution - Missense 2:203144719-203144719 + TCGA-DK-A1AC-01 COSM1306325 c.2902G>C p.E968Q Substitution - Missense 2:203190327-203190327 + SNU-C2B COSM2908357 c.2306G>T p.R769L Substitution - Missense 2:203172793-203172793 + TCGA-A4-7996-01 COSM3990988 c.2374A>T p.N792Y Substitution - Missense 2:203175154-203175154 + TCGA-BR-8680-01 COSM4090331 c.2079T>G p.H693Q Substitution - Missense 2:203169785-203169785 + TCGA-IR-A3LA-01 COSM4844631 c.1492G>C p.D498H Substitution - Missense 2:203107818-203107818 + TCGA-F5-6814-01 COSM3425969 c.3500T>G p.I1167S Substitution - Missense 2:203202732-203202732 + Patient_3_Relapse COSM5415210 c.3454G>A p.D1152N Substitution - Missense 2:203201715-203201715 + HCC100T COSM1614173 c.1025T>C p.I342T Substitution - Missense 2:203144733-203144733 + Pat_05_B COSM5861538 c.952C>T p.Q318* Substitution - Nonsense 2:203144660-203144660 + 8066081 COSM3391401 c.3012C>T p.L1004L Substitution - coding silent 2:203126670-203126670 + S02293 COSM5688512 c.4099G>A p.G1367S Substitution - Missense 2:203213639-203213639 + PD4119a COSM162808 c.282C>T p.V94V Substitution - coding silent 2:203049952-203049952 + SNU-283 COSM2908286 c.4671A>C p.S1557S Substitution - coding silent 2:203138658-203138658 + LUAD-B02594 COSM356476 c.4295G>A p.S1432N Substitution - Missense 2:203136245-203136245 + CHC2206T COSM4956919 c.745G>A p.D249N Substitution - Missense 2:203083279-203083279 + TCGA-AC-A23H-01 COSM3838336 c.2456C>G p.S819C Substitution - Missense 2:203116021-203116021 + I2L-P7-Tumor-Organoid COSM5354833 c.2438C>T p.A813V Substitution - Missense 2:203175218-203175218 + PD4874a COSM5787812 c.3542G>C p.R1181T Substitution - Missense 2:203132037-203132037 + TCGA-06-0213 COSM2150828 c.2318A>G p.K773R Substitution - Missense 2:203172805-203172805 + TCGA-BR-7707-01 COSM4090342 c.3605C>T p.T1202I Substitution - Missense 2:203208692-203208692 + CHC1209T COSM4804618 c.1089G>A p.M363I Substitution - Missense 2:203144797-203144797 + CSCC-29-T COSM4462175 c.1235C>T p.S412F Substitution - Missense 2:203107472-203107472 + T2999 COSM2908278 c.4478+1G>A p.? Unknown 2:203136775-203136775 + T3091 COSM4705647 c.2063G>A p.R688Q Substitution - Missense 2:203169769-203169769 + sysucc-1163T COSM5458903 c.7790G>A p.G2597E Substitution - Missense 2:203211049-203211049 + TCGA-G4-6628-01 COSM1404644 c.2462G>A p.R821H Substitution - Missense 2:203175242-203175242 + TCGA-FV-A496-01 COSM4939178 c.3489A>T p.G1163G Substitution - coding silent 2:203202721-203202721 + TCGA-Q1-A5R2-01 COSM4850294 c.3808G>A p.E1270K Substitution - Missense 2:203209302-203209302 + PCSI_0048_Pa_P COSM216545 c.3972C>T p.L1324L Substitution - coding silent 2:203211101-203211101 + HCC64 COSM1614168 c.832A>G p.I278V Substitution - Missense 2:203083366-203083366 + Pat_05_A COSM5861538 c.952C>T p.Q318* Substitution - Nonsense 2:203144660-203144660 + sysucc-1577T COSM2908279 c.608+1G>A p.? Unknown 2:203136775-203136775 + ccRCC-7 COSM1663003 c.521T>C p.I174T Substitution - Missense 2:203068398-203068398 + LP6007533-DNA_A01 COSM5037234 c.4749G>T p.R1583S Substitution - Missense 2:203138736-203138736 + PCSI_0048_Pa_P_526 COSM216546 c.7842C>T p.L2614L Substitution - coding silent 2:203211101-203211101 + TCGA-D3-A3C8-06 COSM3576470 c.5443G>T p.V1815L Substitution - Missense 2:203151532-203151532 + TCGA-B5-A11H-01 COSM1015061 c.2862C>A p.S954S Substitution - coding silent 2:203126057-203126057 + TCGA-BP-4167-01 COSM1136573 c.33A>G p.E11E Substitution - coding silent 2:203135853-203135853 + PTC_441 COSM5957414 c.1577C>T p.P526L Substitution - Missense 2:203151536-203151536 + TCGA-AP-A0LM-01 COSM1015068 c.126G>T p.E42D Substitution - Missense 2:203135946-203135946 + ESCC_8 COSM5623489 c.3589A>T p.I1197F Substitution - Missense 2:203208676-203208676 + LUAD-NYU284 COSM373022 c.552A>T p.L184L Substitution - coding silent 2:203136718-203136718 + PD7217a COSM5791911 c.591C>G p.F197L Substitution - Missense 2:203068468-203068468 + TCGA-AZ-4315-01 COSM1404642 c.2377T>G p.F793V Substitution - Missense 2:203175157-203175157 + TCGA-AC-A23H-01 COSM3838343 c.5489G>C p.R1830T Substitution - Missense 2:203151578-203151578 + SNU-C2B COSM2908363 c.2347G>A p.A783T Substitution - Missense 2:203172834-203172834 + TCGA-GN-A26C-01 COSM3576497 c.7891C>T p.H2631Y Substitution - Missense 2:203213561-203213561 + 522_T COSM3962205 c.2498A>G p.Q833R Substitution - Missense 2:203175278-203175278 + pfg057T COSM1404634 c.5005delT p.F1670fs*25 Deletion - Frameshift 2:203144843-203144843 + 2497767 COSM2908416 c.3453G>A p.M1151I Substitution - Missense 2:203201714-203201714 + TCGA-GN-A266-06 COSM1404637 c.1945C>T p.R649* Substitution - Nonsense 2:203167265-203167265 + CHC1209T COSM4804617 c.4959G>A p.M1653I Substitution - Missense 2:203144797-203144797 + PCSI_0105_Pa_P_526 COSM4962116 c.5119G>C p.E1707Q Substitution - Missense 2:203145062-203145062 + TCGA-B5-A11E-01 COSM1015086 c.5932C>T p.R1978* Substitution - Nonsense 2:203169768-203169768 + TCGA-D1-A17Q-01 COSM1015073 c.4444G>T p.E1482* Substitution - Nonsense 2:203136740-203136740 + TCGA-BS-A0UF-01 COSM1015105 c.3625G>A p.G1209S Substitution - Missense 2:203208712-203208712 + TCGA-A2-A0D4-01 COSM442143 c.563G>T p.G188V Substitution - Missense 2:203136729-203136729 + TCGA-AA-3715-01 COSM269694 c.4379A>G p.D1460G Substitution - Missense 2:203136675-203136675 + TCGA-AP-A05N-01 COSM1015110 c.7847G>T p.S2616I Substitution - Missense 2:203211106-203211106 + LUAD-F00057 COSM339435 c.3811G>C p.E1271Q Substitution - Missense 2:203209305-203209305 + TCGA-A8-A099-01 COSM442148 c.6484C>G p.P2162A Substitution - Missense 2:203180488-203180488 + S0078 COSM5883381 c.247G>C p.E83Q Substitution - Missense 2:203049917-203049917 + 0117_CRUK_PC_0117_T1_DNA COSM5424072 c.117C>T p.D39D Substitution - coding silent 2:203041830-203041830 + TCGA-AP-A0LM-01 COSM1015054 c.1199G>T p.R400I Substitution - Missense 2:203107436-203107436 + TCGA-D8-A1XW-01 COSM1482663 c.3293T>C p.I1098T Substitution - Missense 2:203127912-203127912 + TCGA-F5-6814-01 COSM1015088 c.6175C>T p.R2059* Substitution - Nonsense 2:203172792-203172792 + T2999 COSM2908279 c.608+1G>A p.? Unknown 2:203136775-203136775 + CPCG0259-F1 COSM4880009 c.2168C>G p.S723* Substitution - Nonsense 2:203171950-203171950 + TCGA-Q1-A5R2-01 COSM4850293 c.7678G>A p.E2560K Substitution - Missense 2:203209302-203209302 + TCGA-AA-3510-01 COSM1404636 c.5815C>T p.R1939* Substitution - Nonsense 2:203167265-203167265 + DLD1 COSM2908234 c.2690A>T p.N897I Substitution - Missense 2:203125446-203125446 + TCGA-F5-6814-01 COSM3425965 c.1786G>T p.E596* Substitution - Nonsense 2:203166177-203166177 + 61 COSM5736389 c.5059G>A p.E1687K Substitution - Missense 2:203144897-203144897 + TCGA-DK-A3IV-01 COSM1306326 c.6949G>C p.E2317Q Substitution - Missense 2:203193909-203193909 + HCC2998 COSM1669669 c.5824C>A p.H1942N Substitution - Missense 2:203167274-203167274 + TCGA-A8-A08L-01 COSM442144 c.5003C>T p.S1668L Substitution - Missense 2:203144841-203144841 + TCGA-B5-A11O-01 COSM1015059 c.2505+1G>T p.? Unknown 2:203116071-203116071 + sysucc-1577T COSM2908278 c.4478+1G>A p.? Unknown 2:203136775-203136775 + pfg057T COSM1404635 c.1135delT p.F380fs*25 Deletion - Frameshift 2:203144843-203144843 + ESCC_BICR_033T COSM5439735 c.1896A>T p.E632D Substitution - Missense 2:203166287-203166287 + C106 COSM209627 c.5426G>A p.R1809H Substitution - Missense 2:203151515-203151515 + TCGA-DK-A1AC-01 COSM1306324 c.6772G>C p.E2258Q Substitution - Missense 2:203190327-203190327 + HCC100T COSM1614172 c.4895T>C p.I1632T Substitution - Missense 2:203144733-203144733 + HX12T COSM1614176 c.7015A>G p.M2339V Substitution - Missense 2:203197365-203197365 + sysucc-274T COSM5476286 c.3057C>T p.I1019I Substitution - coding silent 2:203126715-203126715 + STC291 COSM5058573 c.1542C>A p.I514I Substitution - coding silent 2:203107868-203107868 + PTC_441 COSM5957413 c.5447C>T p.P1816L Substitution - Missense 2:203151536-203151536 + Pat_24_A COSM5861542 c.3014delC p.I1007fs*1 Deletion - Frameshift 2:203193844-203193844 + TCGA-GN-A263-01 COSM3576484 c.2521G>A p.D841N Substitution - Missense 2:203180395-203180395 + TCGA-BT-A3PJ-01 COSM3798532 c.3993C>G p.I1331M Substitution - Missense 2:203213533-203213533 + ATL001 COSM5708007 c.1996C>T p.H666Y Substitution - Missense 2:203111979-203111979 + PD13760a COSM5786866 c.4158T>A p.S1386R Substitution - Missense 2:203136108-203136108 + 4 COSM5732083 c.3161G>A p.G1054E Substitution - Missense 2:203126926-203126926 + STC252 COSM5058574 c.1907A>G p.H636R Substitution - Missense 2:203110194-203110194 + 0109_CRUK_PC_0109_T1_DNA COSM5422334 c.1639G>A p.V547I Substitution - Missense 2:203107965-203107965 + TCGA-D5-5538-01 COSM1404648 c.2959T>C p.L987L Substitution - coding silent 2:203190384-203190384 + pfg122T COSM1404625 c.397delA p.E136fs*14 Deletion - Frameshift 2:203057335-203057335 + 18698 COSM5346345 c.6502C>G p.Q2168E Substitution - Missense 2:203180506-203180506 + TCGA-33-4533-01 COSM719713 c.4022A>G p.H1341R Substitution - Missense 2:203213562-203213562 + A549 COSM1193294 c.3604A>G p.T1202A Substitution - Missense 2:203208691-203208691 + 3608_T COSM3962196 c.685A>G p.R229G Substitution - Missense 2:203083219-203083219 + 18698 COSM5346346 c.2632C>G p.Q878E Substitution - Missense 2:203180506-203180506 + BCM423T COSM4802560 c.2586G>T p.W862C Substitution - Missense 2:203122334-203122334 + TCGA-A1-A0SN-01 COSM3838338 c.559C>A p.P187T Substitution - Missense 2:203136725-203136725 + 8057513 COSM3391402 c.6046G>T p.D2016Y Substitution - Missense 2:203171958-203171958 + pfg008T COSM1404625 c.397delA p.E136fs*14 Deletion - Frameshift 2:203057335-203057335 + TCGA-ER-A19A-06 COSM3576461 c.1659A>G p.A553A Substitution - coding silent 2:203107985-203107985 + T2269 COSM4705649 c.2119T>G p.L707V Substitution - Missense 2:203169825-203169825 + TCGA-G4-6628-01 COSM1404643 c.6332G>A p.R2111H Substitution - Missense 2:203175242-203175242 + S02322 COSM5691373 c.4415C>T p.S1472L Substitution - Missense 2:203136711-203136711 + Gp5D COSM2908405 c.7149A>G p.P2383P Substitution - coding silent 2:203199445-203199445 + TCGA-A1-A0SN-01 COSM3838337 c.4429C>A p.P1477T Substitution - Missense 2:203136725-203136725 + RK058_C01 COSM1631744 c.762+1G>A p.? Unknown 2:203138316-203138316 + TCGA-24-1844-01 COSM1326514 c.7830T>G p.S2610S Substitution - coding silent 2:203211089-203211089 + CSCC-7-T COSM4489031 c.341C>T p.S114L Substitution - Missense 2:203056462-203056462 + TCGA-CG-5728-01 COSM3391404 c.7789G>A p.G2597R Substitution - Missense 2:203211048-203211048 + 114 COSM1741346 c.2225C>A p.S742* Substitution - Nonsense 2:203113124-203113124 + TCGA-BS-A0UV-01 COSM1015090 c.6216C>T p.N2072N Substitution - coding silent 2:203172833-203172833 + TCGA-AP-A051-01 COSM1015070 c.348G>A p.S116S Substitution - coding silent 2:203136168-203136168 + 8066081 COSM3391403 c.2176G>T p.D726Y Substitution - Missense 2:203171958-203171958 + MB_Exm516 COSM215851 c.2617G>A p.G873R Substitution - Missense 2:203125373-203125373 + TCGA-EE-A2MR-06 COSM3576493 c.7480G>A p.E2494K Substitution - Missense 2:203208697-203208697 + TCGA-F5-6814-01 COSM3425966 c.6080G>A p.R2027Q Substitution - Missense 2:203171992-203171992 + 8057501 COSM3391403 c.2176G>T p.D726Y Substitution - Missense 2:203171958-203171958 + TCGA-AH-6897-01 COSM1404625 c.397delA p.E136fs*14 Deletion - Frameshift 2:203057335-203057335 + TCGA-AA-3715-01 COSM269693 c.509A>G p.D170G Substitution - Missense 2:203136675-203136675 + TCGA-EE-A2GI-06 COSM3576485 c.6442C>T p.P2148S Substitution - Missense 2:203180446-203180446 + TCGA-CG-4449-01 COSM4090322 c.4133T>A p.I1378N Substitution - Missense 2:203136083-203136083 + 8066081 COSM3391402 c.6046G>T p.D2016Y Substitution - Missense 2:203171958-203171958 + TCGA-AC-A23H-01 COSM3838341 c.4878C>G p.I1626M Substitution - Missense 2:203144716-203144716 + Pat_14_A COSM5861540 c.2529G>T p.Q843H Substitution - Missense 2:203180403-203180403 + 49M COSM5592052 c.624C>T p.L208L Substitution - coding silent 2:203077777-203077777 + TCGA-D1-A17Q-01 COSM1015064 c.3504G>A p.T1168T Substitution - coding silent 2:203131999-203131999 + PCSI_0090_Pa_P COSM3380004 c.4156A>G p.K1386E Substitution - Missense 2:203217295-203217295 + CSCC-7-T COSM4499170 c.1492C>T p.P498S Substitution - Missense 2:203149135-203149135 + EGC15 COSM5058572 c.1405T>C p.W469R Substitution - Missense 2:203107731-203107731 + NCI-H322M COSM1669672 c.2893G>T p.D965Y Substitution - Missense 2:203190318-203190318 + TCGA-06-0173-01 COSM3407496 c.4508T>C p.I1503T Substitution - Missense 2:203138191-203138191 + 063-0127-01TD COSM145665 c.3178A>G p.I1060V Substitution - Missense 2:203199344-203199344 + TCGA-AP-A05N-01 COSM1015097 c.2659C>G p.Q887E Substitution - Missense 2:203183299-203183299 + TCGA-A6-6653-01 COSM1404627 c.1229T>C p.L410S Substitution - Missense 2:203107466-203107466 + TCGA-EE-A2GE-06 COSM3576477 c.5710C>T p.P1904S Substitution - Missense 2:203166231-203166231 + TCGA-IN-8663-01 COSM4090339 c.6834+1G>A p.? Unknown 2:203190390-203190390 + ccRCC-58 COSM1659659 c.936A>G p.Q312Q Substitution - coding silent 2:203083470-203083470 + GCT05 COSM5749157 c.2657T>G p.L886R Substitution - Missense 2:203183297-203183297 + TCGA-D1-A103-01 COSM1015113 c.4136G>A p.R1379Q Substitution - Missense 2:203217275-203217275 + PR-3027 COSM220020 c.1979G>A p.R660K Substitution - Missense 2:203167299-203167299 + TCGA-AX-A05Z-01 COSM1015078 c.1153G>A p.E385K Substitution - Missense 2:203144861-203144861 + 37M COSM5583823 c.1999C>T p.H667Y Substitution - Missense 2:203167319-203167319 + TCGA-RC-A7SF-01 COSM4923135 c.5030G>T p.C1677F Substitution - Missense 2:203144868-203144868 + T36 COSM5343971 c.2007T>C p.T669T Substitution - coding silent 2:203111990-203111990 + 255 COSM2908352 c.6140C>T p.S2047L Substitution - Missense 2:203172757-203172757 + TCGA-G4-6628-01 COSM1404649 c.6940delT p.F2315fs*2 Deletion - Frameshift 2:203193900-203193900 + BD180T COSM5494966 c.608+1G>T p.? Unknown 2:203136775-203136775 + TCGA-BS-A0UV-01 COSM1015083 c.5386C>T p.P1796S Substitution - Missense 2:203151475-203151475 + 587342 COSM1216711 c.3583G>T p.A1195S Substitution - Missense 2:203132078-203132078 + TCGA-EI-6917-01 COSM3425963 c.1578G>A p.P526P Substitution - coding silent 2:203151537-203151537 + ESCC-134T COSM3938877 c.6607A>T p.R2203W Substitution - Missense 2:203183377-203183377 + TCGA-IN-8663-01 COSM4090340 c.2964+1G>A p.? Unknown 2:203190390-203190390 + EGC15 COSM5058575 c.2378A>G p.E793G Substitution - Missense 2:203113277-203113277 + 8057513 COSM3391401 c.3012C>T p.L1004L Substitution - coding silent 2:203126670-203126670 + 35M COSM5581803 c.4690C>T p.P1564S Substitution - Missense 2:203138677-203138677 + TCGA-06-0213-01 COSM2150828 c.2318A>G p.K773R Substitution - Missense 2:203172805-203172805 + PR-3027 COSM220021 c.5849G>A p.R1950K Substitution - Missense 2:203167299-203167299 + TCGA-EE-A29E-06 COSM3576489 c.6843C>T p.H2281H Substitution - coding silent 2:203193803-203193803 + TCGA-RC-A7SF-01 COSM4923136 c.1160G>T p.C387F Substitution - Missense 2:203144868-203144868 + TCGA-BS-A0UF-01 COSM1015104 c.7495G>A p.G2499S Substitution - Missense 2:203208712-203208712 + TCGA-EI-6917-01 COSM3425958 c.943T>C p.S315P Substitution - Missense 2:203083477-203083477 + Gp2D COSM4627972 c.3877T>C p.S1293P Substitution - Missense 2:203211006-203211006 + 3584_T COSM3962202 c.6332G>C p.R2111P Substitution - Missense 2:203175242-203175242 + CSCC-7-T COSM4499169 c.5362C>T p.P1788S Substitution - Missense 2:203149135-203149135 + HCC18T COSM1614171 c.822A>C p.P274P Substitution - coding silent 2:203138679-203138679 + HCC2998 COSM1669670 c.1954C>A p.H652N Substitution - Missense 2:203167274-203167274 + TCGA-CG-5728-01 COSM4090338 c.2638+1G>A p.? Unknown 2:203180513-203180513 + PAPZNK COSM5005351 c.1078C>T p.R360* Substitution - Nonsense 2:203084549-203084549 + TCGA-D1-A17Q-01 COSM1015063 c.3463G>T p.E1155* Substitution - Nonsense 2:203130462-203130462 + TCGA-D8-A1XT-01 COSM1482667 c.2268T>G p.T756T Substitution - coding silent 2:203172755-203172755 + DLD1 COSM2908334 c.5910G>T p.E1970D Substitution - Missense 2:203167360-203167360 + TCGA-A8-A08L-01 COSM442145 c.1133C>T p.S378L Substitution - Missense 2:203144841-203144841 + TCGA-D8-A1XK-01 COSM3838346 c.1724T>A p.L575H Substitution - Missense 2:203157792-203157792 + SNU-C2B COSM2908362 c.6217G>A p.A2073T Substitution - Missense 2:203172834-203172834 + Pat_65_A COSM2908279 c.608+1G>A p.? Unknown 2:203136775-203136775 + 8015085 COSM3391405 c.3919G>A p.G1307R Substitution - Missense 2:203211048-203211048 + PD4100a COSM166126 c.2616_2617delAG p.E873fs*9 Deletion - Frameshift 2:203180490-203180491 + LUAD-F00057 COSM339434 c.7681G>C p.E2561Q Substitution - Missense 2:203209305-203209305 + TCGA-C5-A1BQ-01 COSM4841672 c.917A>T p.H306L Substitution - Missense 2:203083451-203083451 + PT37 COSM5917690 c.1051C>T p.R351C Substitution - Missense 2:203144759-203144759 + 2492729 COSM5728052 c.7082G>A p.W2361* Substitution - Nonsense 2:203199378-203199378 + I2L-P24Tb-Tumor-Biopsy COSM5354502 c.8067T>A p.N2689K Substitution - Missense 2:203217336-203217336 + TCGA-D8-A1XK-01 COSM3838345 c.5594T>A p.L1865H Substitution - Missense 2:203157792-203157792 + D28 COSM5545380 c.3015C>T p.T1005T Substitution - coding silent 2:203193845-203193845 + S02322 COSM5691374 c.545C>T p.S182L Substitution - Missense 2:203136711-203136711 + LUAD-5O6B5 COSM330708 c.2634A>G p.Q878Q Substitution - coding silent 2:203180508-203180508 + TCGA-E9-A1R4-01 COSM1482669 c.3058G>T p.E1020* Substitution - Nonsense 2:203193888-203193888 + 1 COSM4169893 c.2584A>C p.K862Q Substitution - Missense 2:203180458-203180458 + TCGA-BP-4787-01 COSM3364507 c.2408T>A p.F803Y Substitution - Missense 2:203175188-203175188 + TCGA-C5-A3HE-01 COSM4827678 c.3920G>C p.G1307A Substitution - Missense 2:203211049-203211049 + HCT15 COSM2908413 c.7307A>G p.H2436R Substitution - Missense 2:203201698-203201698 + TCGA-C5-A1MK-01 COSM4826899 c.7564C>T p.Q2522* Substitution - Nonsense 2:203209188-203209188 + TCGA-CJ-4902-01 COSM476772 c.2444T>C p.V815A Substitution - Missense 2:203175224-203175224 + TCGA-G7-6793-01 COSM3990989 c.6892G>T p.D2298Y Substitution - Missense 2:203193852-203193852 + SA018 COSM212921 c.1433A>G p.Q478R Substitution - Missense 2:203149076-203149076 + HCC35 COSM1614175 c.1326G>A p.G442G Substitution - coding silent 2:203145139-203145139 + PT46 COSM5928320 c.2276C>T p.S759L Substitution - Missense 2:203113175-203113175 + TCGA-GN-A26A-06 COSM3576458 c.308A>C p.N103T Substitution - Missense 2:203056429-203056429 + HCC009T COSM4852553 c.3742C>T p.Q1248* Substitution - Nonsense 2:203135692-203135692 + 98735 COSM325917 c.578T>G p.L193R Substitution - Missense 2:203136744-203136744 + CSCC-37-T COSM4506372 c.7183C>T p.P2395S Substitution - Missense 2:203201574-203201574 + 2492729 COSM5728050 c.1530C>T p.N510N Substitution - coding silent 2:203107856-203107856 + 063 COSM145665 c.3178A>G p.I1060V Substitution - Missense 2:203199344-203199344 + TCGA-C5-A3HE-01 COSM4827677 c.7790G>C p.G2597A Substitution - Missense 2:203211049-203211049 + PD4120a COSM162807 c.2802C>G p.I934M Substitution - Missense 2:203125997-203125997 + YULONE COSM5395976 c.2461C>G p.R821G Substitution - Missense 2:203175241-203175241 + TCGA-AP-A059-01 COSM1015066 c.81C>A p.T27T Substitution - coding silent 2:203135901-203135901 + J33_T COSM3962201 c.762+5A>G p.? Unknown 2:203138320-203138320 + TCGA-G4-6586-01 COSM1216707 c.454G>A p.A152T Substitution - Missense 2:203057392-203057392 + 8057501 COSM3391402 c.6046G>T p.D2016Y Substitution - Missense 2:203171958-203171958 + PT23_1 COSM5902566 c.758G>A p.W253* Substitution - Nonsense 2:203083292-203083292 + TCGA-B5-A11E-01 COSM1015087 c.2062C>T p.R688* Substitution - Nonsense 2:203169768-203169768 + T3021 COSM4705651 c.3216G>A p.L1072L Substitution - coding silent 2:203199382-203199382 + KM12 COSM1404649 c.6940delT p.F2315fs*2 Deletion - Frameshift 2:203193900-203193900 + HCC64T COSM1614168 c.832A>G p.I278V Substitution - Missense 2:203083366-203083366 + SNU-C2B COSM2908356 c.6176G>T p.R2059L Substitution - Missense 2:203172793-203172793 + ESO-887 COSM1258754 c.4065C>G p.F1355L Substitution - Missense 2:203136015-203136015 + BK0041 COSM4187238 c.4262T>G p.M1421R Substitution - Missense 2:203136212-203136212 + TCGA-DK-A2I4-01 COSM3798534 c.4057C>G p.L1353V Substitution - Missense 2:203213597-203213597 + PD22360a COSM5784195 c.123G>A p.L41L Substitution - coding silent 2:203135943-203135943 + TCGA-GN-A26C-01 COSM3576498 c.4021C>T p.H1341Y Substitution - Missense 2:203213561-203213561 + 2492730 COSM5729371 c.1314C>T p.D438D Substitution - coding silent 2:203145127-203145127 + TCGA-D1-A103-01 COSM1015092 c.6305C>A p.S2102Y Substitution - Missense 2:203175215-203175215 + TCGA-AX-A0J0-01 COSM1015050 c.540G>T p.K180N Substitution - Missense 2:203068417-203068417 + TCGA-D1-A103-01 COSM1015057 c.1648G>A p.V550M Substitution - Missense 2:203107974-203107974 + 417 COSM4431699 c.110A>G p.D37G Substitution - Missense 2:203135930-203135930 + 26 COSM5748621 c.2740G>A p.V914I Substitution - Missense 2:203125496-203125496 + TCGA-BR-4361-01 COSM4090325 c.576A>G p.E192E Substitution - coding silent 2:203136742-203136742 + TCGA-CJ-4902-01 COSM476771 c.6314T>C p.V2105A Substitution - Missense 2:203175224-203175224 + TCGA-D9-A149-06 COSM3576457 c.58C>T p.P20S Substitution - Missense 2:203041771-203041771 + 1604875 COSM141012 c.7073C>T p.T2358I Substitution - Missense 2:203199369-203199369 + sysucc-880T COSM5463067 c.499G>T p.E167* Substitution - Nonsense 2:203136665-203136665 + ATL050 COSM5708009 c.1087A>T p.M363L Substitution - Missense 2:203144795-203144795 + TCGA-A8-A099-01 COSM442149 c.2614C>G p.P872A Substitution - Missense 2:203180488-203180488 + PT16_1 COSM5898147 c.2638C>T p.Q880* Substitution - Nonsense 2:203180512-203180512 + TCGA-FU-A3HZ-01 COSM4840936 c.5418T>G p.N1806K Substitution - Missense 2:203151507-203151507 + Pat_65_A COSM2908278 c.4478+1G>A p.? Unknown 2:203136775-203136775 + 250LT COSM4381629 c.6284A>T p.Y2095F Substitution - Missense 2:203175194-203175194 + TCGA-EE-A2GI-06 COSM3576486 c.2572C>T p.P858S Substitution - Missense 2:203180446-203180446 + SK00102_M COSM1600003 c.1247C>A p.P416Q Substitution - Missense 2:203107484-203107484 + TCGA-AA-A00N-01 COSM276262 c.6331C>T p.R2111C Substitution - Missense 2:203175241-203175241 + CSCC-6-T COSM4499601 c.1596C>T p.T532T Substitution - coding silent 2:203151555-203151555 + PT13 COSM5895584 c.2377G>A p.E793K Substitution - Missense 2:203113276-203113276 + CSCC-32-T COSM4503997 c.6537C>T p.S2179S Substitution - coding silent 2:203183307-203183307 + LUAD_E00623 COSM354275 c.6953_6954GG>AT p.G2318>? Complex 2:203197303-203197304 + TCGA-BH-A18P-01 COSM442141 c.3461G>C p.R1154T Substitution - Missense 2:203130460-203130460 + TCGA-24-1844-01 COSM1326515 c.3960T>G p.S1320S Substitution - coding silent 2:203211089-203211089 + C141 COSM4441478 c.5999C>G p.A2000G Substitution - Missense 2:203169835-203169835 + pfg181T COSM4765524 c.3674_3675insTA p.Y1226fs*9 Insertion - Frameshift 2:203133094-203133095 + Pat_24_A COSM5861541 c.6884delC p.I2297fs*1 Deletion - Frameshift 2:203193844-203193844 + SNU-283 COSM2908287 c.801A>C p.S267S Substitution - coding silent 2:203138658-203138658 + HCC18T COSM1614170 c.4692A>C p.P1564P Substitution - coding silent 2:203138679-203138679 + 234 COSM3730862 c.6091G>T p.D2031Y Substitution - Missense 2:203172003-203172003 + TCGA-AX-A0J0-01 COSM1015054 c.1199G>T p.R400I Substitution - Missense 2:203107436-203107436 + ccRCC-26 COSM1663004 c.2699C>A p.T900K Substitution - Missense 2:203125455-203125455 + SA018 COSM212922 c.5303A>G p.Q1768R Substitution - Missense 2:203149076-203149076 + TCGA-F5-6814-01 COSM1015089 c.2305C>T p.R769* Substitution - Nonsense 2:203172792-203172792 + TCGA-AN-A046-01 COSM3838339 c.4522G>T p.E1508* Substitution - Nonsense 2:203138205-203138205 + FM403T COSM673757 c.3573_3575delTCT p.L1192delL Deletion - In frame 2:203132068-203132070 + YUSMI COSM5395968 c.860G>A p.R287H Substitution - Missense 2:203083394-203083394 + C141 COSM4441479 c.2129C>G p.A710G Substitution - Missense 2:203169835-203169835 + HCC100 COSM1614173 c.1025T>C p.I342T Substitution - Missense 2:203144733-203144733 + K-562 COSM1669674 c.3316G>A p.G1106R Substitution - Missense 2:203201577-203201577 + 37M COSM5583822 c.5869C>T p.H1957Y Substitution - Missense 2:203167319-203167319 + TCGA-AC-A23H-01 COSM3838344 c.1619G>C p.R540T Substitution - Missense 2:203151578-203151578 + PT52 COSM5938907 c.3559C>T p.P1187S Substitution - Missense 2:203208646-203208646 + CRC-02T COSM5454969 c.7497C>T p.G2499G Substitution - coding silent 2:203208714-203208714 + PT52 COSM5938908 c.341C>G p.S114W Substitution - Missense 2:203056462-203056462 + TCGA-EE-A2GC-06 COSM3576480 c.2128G>A p.A710T Substitution - Missense 2:203169834-203169834 + tumor_4120193 COSM3953026 c.3169T>A p.C1057S Substitution - Missense 2:203127788-203127788 + 12804 COSM5617115 c.5529T>C p.D1843D Substitution - coding silent 2:203157727-203157727 + PT46 COSM5928318 c.7748C>T p.S2583F Substitution - Missense 2:203211007-203211007 + TCGA-AP-A056-01 COSM1015106 c.7552A>G p.I2518V Substitution - Missense 2:203209176-203209176 + TCGA-06-0213-01 COSM2150827 c.6188A>G p.K2063R Substitution - Missense 2:203172805-203172805 + TCGA-BP-5173-01 COSM476767 c.4578A>T p.I1526I Substitution - coding silent 2:203138261-203138261 + PD4100a COSM166127 c.6486_6487delAG p.E2163fs*9 Deletion - Frameshift 2:203180490-203180491 + TCGA-BS-A0UV-01 COSM1015056 c.1527G>T p.E509D Substitution - Missense 2:203107853-203107853 + BCM723T COSM4956377 c.3518G>A p.R1173H Substitution - Missense 2:203132013-203132013 + 8066067 COSM3391402 c.6046G>T p.D2016Y Substitution - Missense 2:203171958-203171958 + PD24191a COSM5784511 c.4087T>C p.F1363L Substitution - Missense 2:203136037-203136037 + YUMOBER COSM5395967 c.760G>A p.E254K Substitution - Missense 2:203083294-203083294 + TCGA-G2-A3IE-01 COSM1306322 c.1529A>T p.K510M Substitution - Missense 2:203151488-203151488 + 12804 COSM5617116 c.1659T>C p.D553D Substitution - coding silent 2:203157727-203157727 + PD11352a COSM5776241 c.1380A>G p.A460A Substitution - coding silent 2:203149023-203149023 + 8066067 COSM3391401 c.3012C>T p.L1004L Substitution - coding silent 2:203126670-203126670 + 2497767 COSM2908415 c.7323G>A p.M2441I Substitution - Missense 2:203201714-203201714 + TCGA-06-0213 COSM2150827 c.6188A>G p.K2063R Substitution - Missense 2:203172805-203172805 + 631052 COSM321937 c.3101G>T p.R1034I Substitution - Missense 2:203126866-203126866 + S02293 COSM5688511 c.7969G>A p.G2657S Substitution - Missense 2:203213639-203213639 + C106 COSM209626 c.1556G>A p.R519H Substitution - Missense 2:203151515-203151515 + ZZUFHECRKL-G008T COSM5124105 c.396_397insA p.E136fs*11 Insertion - Frameshift 2:203057334-203057335 + 8016470 COSM3391400 c.598+5G>A p.? Unknown 2:203068480-203068480 + TCGA-EB-A430-01 COSM3576488 c.2637T>G p.N879K Substitution - Missense 2:203180511-203180511 + 4132_T COSM3962207 c.3588G>T p.Q1196H Substitution - Missense 2:203208675-203208675 + 234 COSM3730863 c.2221G>T p.D741Y Substitution - Missense 2:203172003-203172003 + LOVO COSM2908220 c.2163T>G p.T721T Substitution - coding silent 2:203113062-203113062 + BK0041 COSM4187239 c.392T>G p.M131R Substitution - Missense 2:203136212-203136212 + LOVO COSM2908225 c.2331T>C p.C777C Substitution - coding silent 2:203113230-203113230 + HCC18 COSM1614170 c.4692A>C p.P1564P Substitution - coding silent 2:203138679-203138679 + TCGA-LP-A5U2-01 COSM4833690 c.6609G>C p.R2203S Substitution - Missense 2:203183379-203183379 + TCGA-D1-A17R-01 COSM1015098 c.6566C>T p.P2189L Substitution - Missense 2:203183336-203183336 + HCC2998 COSM1669669 c.5824C>A p.H1942N Substitution - Missense 2:203167274-203167274 + TCGA-EE-A29E-06 COSM3576490 c.2973C>T p.H991H Substitution - coding silent 2:203193803-203193803 + TCGA-FS-A4FC-06 COSM3576473 c.1736A>G p.D579G Substitution - Missense 2:203157804-203157804 + NPC7D COSM4996179 c.3095G>A p.S1032N Substitution - Missense 2:203126860-203126860 + TCGA-EK-A2RJ-01 COSM4832111 c.5314C>G p.L1772V Substitution - Missense 2:203149087-203149087 + TCGA-EI-6507-01 COSM1565148 c.1219C>T p.L407F Substitution - Missense 2:203107456-203107456 + PD11352a COSM5776240 c.5250A>G p.A1750A Substitution - coding silent 2:203149023-203149023 + TCGA-25-1313-01 COSM71787 c.4113G>C p.L1371F Substitution - Missense 2:203136063-203136063 + S01563 COSM5670034 c.5314delC p.R1773fs*29 Deletion - Frameshift 2:203149087-203149087 + TCGA-B5-A0JZ-01 COSM1015082 c.1408A>G p.M470V Substitution - Missense 2:203149051-203149051 + PT19_2 COSM5899860 c.8078C>T p.S2693F Substitution - Missense 2:203217347-203217347 + TCGA-AP-A05N-01 COSM1015096 c.6529C>G p.Q2177E Substitution - Missense 2:203183299-203183299 + CRC-03T COSM5451637 c.2467G>A p.D823N Substitution - Missense 2:203116032-203116032 + T3021 COSM4705650 c.7086G>A p.L2362L Substitution - coding silent 2:203199382-203199382 + PD7307a COSM5796875 c.2243C>T p.S748L Substitution - Missense 2:203113142-203113142 + LP6007533-DNA_A01 COSM5037235 c.879G>T p.R293S Substitution - Missense 2:203138736-203138736 + 229 COSM3722713 c.279G>A p.M93I Substitution - Missense 2:203136099-203136099 + TCGA-EE-A2GD-06 COSM3576468 c.4668G>T p.L1556L Substitution - coding silent 2:203138655-203138655 + PT16_1 COSM5898146 c.6508C>T p.Q2170* Substitution - Nonsense 2:203180512-203180512 + TCGA-25-1313-01 COSM71786 c.243G>C p.L81F Substitution - Missense 2:203136063-203136063 + RK058_C01 COSM1631743 c.4632+1G>A p.? Unknown 2:203138316-203138316 + TCGA-ER-A19Q-06 COSM3576492 c.3136C>T p.R1046C Substitution - Missense 2:203197356-203197356 + CSCC-29-T COSM4487135 c.3145C>T p.L1049F Substitution - Missense 2:203126910-203126910 + TCGA-EI-6917-01 COSM3425962 c.5448G>A p.P1816P Substitution - coding silent 2:203151537-203151537 + TCGA-AD-6963-01 COSM1404645 c.6597C>G p.I2199M Substitution - Missense 2:203183367-203183367 + Gp2D COSM2908222 c.2285T>C p.I762T Substitution - Missense 2:203113184-203113184 + TCGA-AC-A23H-01 COSM3838342 c.1008C>G p.I336M Substitution - Missense 2:203144716-203144716 + 060T COSM1730056 c.3467G>T p.C1156F Substitution - Missense 2:203202699-203202699 + HCT15 COSM2908334 c.5910G>T p.E1970D Substitution - Missense 2:203167360-203167360 + 413 COSM4431197 c.5160A>G p.L1720L Substitution - coding silent 2:203145103-203145103 + 587332 COSM1216708 c.7865A>G p.N2622S Substitution - Missense 2:203213535-203213535 + CSCC-10-T COSM4538900 c.2618G>A p.G873E Substitution - Missense 2:203125374-203125374 + CAL33 COSM2908209 c.844A>T p.S282C Substitution - Missense 2:203083378-203083378 + RK134_C01 COSM3702107 c.4339A>G p.I1447V Substitution - Missense 2:203136635-203136635 + pfg181T COSM1404625 c.397delA p.E136fs*14 Deletion - Frameshift 2:203057335-203057335 + TCGA-DK-A2I4-01 COSM3798533 c.7927C>G p.L2643V Substitution - Missense 2:203213597-203213597 + TCGA-GN-A266-06 COSM3576464 c.2496C>T p.Y832Y Substitution - coding silent 2:203116061-203116061 + TCGA-EE-A2GE-06 COSM3576478 c.1840C>T p.P614S Substitution - Missense 2:203166231-203166231 + ZZUFHECRKL-G006T COSM5432536 c.2248G>T p.A750S Substitution - Missense 2:203113147-203113147 + TCGA-AB-2945-03 COSM1318119 c.2564T>C p.M855T Substitution - Missense 2:203180438-203180438 + TCGA-BH-A1F2-01 COSM1482665 c.1834G>T p.V612L Substitution - Missense 2:203166225-203166225 + 54 COSM5734899 c.1049T>A p.V350D Substitution - Missense 2:203144757-203144757 + TCGA-CA-6717-01 COSM1404626 c.518G>A p.R173Q Substitution - Missense 2:203068395-203068395 + S02296 COSM5689500 c.3088A>G p.K1030E Substitution - Missense 2:203126853-203126853 + K-562 COSM1669673 c.7186G>A p.G2396R Substitution - Missense 2:203201577-203201577 + HCC35 COSM1614174 c.5196G>A p.G1732G Substitution - coding silent 2:203145139-203145139 + TCGA-AM-5820-01 COSM3695201 c.2460C>T p.D820D Substitution - coding silent 2:203116025-203116025 + SC_9050 COSM5556862 c.3627C>T p.I1209I Substitution - coding silent 2:203132122-203132122 + 2492729 COSM5728054 c.7282C>T p.L2428F Substitution - Missense 2:203201673-203201673 + PT19_2 COSM5899861 c.4208C>T p.S1403F Substitution - Missense 2:203217347-203217347 + NB2388 COSM5703172 c.6474C>A p.F2158L Substitution - Missense 2:203180478-203180478 + SJHGG068_A COSM4971311 c.872C>G p.T291S Substitution - Missense 2:203083406-203083406 + 12T COSM109305 c.3100C>T p.P1034S Substitution - Missense 2:203197320-203197320 + TCGA-D3-A3C8-06 COSM3576471 c.1573G>T p.V525L Substitution - Missense 2:203151532-203151532 + TCGA-BR-7707-01 COSM4090341 c.7475C>T p.T2492I Substitution - Missense 2:203208692-203208692 + sysucc-880T COSM5463066 c.4369G>T p.E1457* Substitution - Nonsense 2:203136665-203136665 + 54 COSM5734898 c.4919T>A p.V1640D Substitution - Missense 2:203144757-203144757 + PD22360a COSM5784243 c.422A>C p.D141A Substitution - Missense 2:203057360-203057360 + TCGA-AP-A059-01 COSM1015076 c.684C>T p.N228N Substitution - coding silent 2:203138237-203138237 + TCGA-D9-A1X3-01 COSM3576460 c.1555G>T p.G519W Substitution - Missense 2:203107881-203107881 + TCGA-AP-A0LM-01 COSM1015089 c.2305C>T p.R769* Substitution - Nonsense 2:203172792-203172792 + TCGA-BS-A0UF-01 COSM1015108 c.7808G>A p.G2603D Substitution - Missense 2:203211067-203211067 + TCGA-EJ-5530-01 COSM1129378 c.6299C>G p.S2100* Substitution - Nonsense 2:203175209-203175209 + TCGA-DM-A1D7-01 COSM1404639 c.2062C>A p.R688R Substitution - coding silent 2:203169768-203169768 + TCGA-CS-6666-01 COSM3971963 c.4719G>C p.Q1573H Substitution - Missense 2:203138706-203138706 + T6 COSM5619385 c.2871T>G p.V957V Substitution - coding silent 2:203126066-203126066 + TCGA-AA-3713-01 COSM1404629 c.3424G>A p.A1142T Substitution - Missense 2:203130423-203130423 + TCGA-FU-A3HZ-01 COSM4840937 c.1548T>G p.N516K Substitution - Missense 2:203151507-203151507 + KM12 COSM1404650 c.3070delT p.F1025fs*2 Deletion - Frameshift 2:203193900-203193900 + TCGA-E9-A1R4-01 COSM1482668 c.6928G>T p.E2310* Substitution - Nonsense 2:203193888-203193888 + TCGA-AD-6963-01 COSM1404646 c.2727C>G p.I909M Substitution - Missense 2:203183367-203183367 + 8057513 COSM3391403 c.2176G>T p.D726Y Substitution - Missense 2:203171958-203171958 + T2269 COSM4705648 c.5989T>G p.L1997V Substitution - Missense 2:203169825-203169825 + TCGA-EE-A2MD-06 COSM3576467 c.13G>A p.D5N Substitution - Missense 2:203135833-203135833 + TCGA-BR-8680-01 COSM4090344 c.3680T>G p.I1227S Substitution - Missense 2:203209174-203209174 + CRC-02T COSM5454967 c.4810G>T p.V1604L Substitution - Missense 2:203144648-203144648 + QC2-03-T2 COSM5651686 c.3936A>T p.T1312T Substitution - coding silent 2:203211065-203211065 + T3225 COSM1404644 c.2462G>A p.R821H Substitution - Missense 2:203175242-203175242 + TCGA-BP-5173-01 COSM476768 c.708A>T p.I236I Substitution - coding silent 2:203138261-203138261 + I2L-P24Tb-Tumor-Biopsy COSM5354503 c.4197T>A p.N1399K Substitution - Missense 2:203217336-203217336 + AOCS-064-3-3 COSM1015113 c.4136G>A p.R1379Q Substitution - Missense 2:203217275-203217275 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.648795;Hs.648797;Hs.648805;Hs.648806;Hs.648813;Hs.648814;Hs.648820;Hs.648823;Hs.648825;Hs.648829;Hs.648834;Hs.648836;Hs.648838;Hs.648842;Hs.648846 2q33.2 609816

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.N103T c.308A>C 2 203921152 CM A - Frameshift p.E136Rfs*14 c.405delA 2 203922058 HNSC AG - Frameshift p.E2163Vfs*9 c.6488_6489delAG 2 204045213 BRCA A G Missense p.H1823R c.5468A>G 2 204016280 BRCA A G Missense p.H2631R c.7892A>G 2 204078285 LUSC A G Missense p.I2350V c.7048A>G 2 204064067 CLL A G Missense p.K2063R c.6188A>G 2 204037528 GBM A G Missense p.Q1768R c.5303A>G 2 204013799 BRCA A G Synonymous p.A553A c.1659A>G 2 203972708 CM A G Synonymous p.Q1674Q c.5022A>G 2 204009583 HC - A IntronicInsertion . c.6834+946dupA 2 204056043 CM A T IntronicSNV . c.6508+617A>T 2 204045852 HC A T Missense p.K1800M c.5399A>T 2 204016211 BLCA A T Synonymous p.I1526I c.4578A>T 2 204002984 RCCC C A Missense p.Q2424K c.7270C>A 2 204066384 CM C A Synonymous p.S954S c.2862C>A 2 203990780 UCEC CC AA Missense p.H636N c.1905_1906delinsAA 2 203974915 CM CC AA Missense p.H955N c.2862_2863delinsAA 2 203990780 CM CC AA Missense p.L2118I c.6351_6352delinsAA 2 204039984 CM CC AA Missense p.L664I c.1989_1990delinsAA 2 203974999 CM CC AA Missense p.P1400K c.4198_4199delinsAA 2 204000871 CM CC AG Missense p.H636D c.1905_1906delinsAG 2 203974915 CM CG AT Missense p.G2396W c.7185_7186delinsAT 2 204066299 CM CG AT Missense p.R1521I c.4561_4562delinsAT 2 204002967 CM CG AT Missense p.S1186Y c.3557_3558delinsAT 2 203996775 CM C G Missense p.F1355L c.4065C>G 2 204000738 ESCA C G Missense p.I2621M c.7863C>G 2 204078256 BLCA C G Missense p.I934M c.2802C>G 2 203990720 BRCA C G Missense p.L1578V c.4732C>G 2 204003442 STAD C G Missense p.L2643V c.7927C>G 2 204078320 BLCA C G Missense p.P2162A c.6484C>G 2 204045211 BRCA C G Missense p.S1428C c.4283C>G 2 204000956 HNSC C G Nonsense p.S2100* c.6299C>G 2 204039932 PRAD C T 3-UTRSNV . c.8082+13C>T 2 204082087 CM C T IntronicSNV . c.143+981C>T 2 203907560 CLL C T IntronicSNV . c.6834+786C>T 2 204055898 CM C T Missense p.H2631Y c.7891C>T 2 204078284 CM C T Missense p.L1953F c.5857C>T 2 204032030 LUSC C T Missense p.P1513L c.4538C>T 2 204002944 CLL C T Missense p.P1904S c.5710C>T 2 204030954 CM C T Missense p.P20S c.58C>T 2 203906494 CM C T Missense p.P2148S c.6442C>T 2 204045169 CM C T Missense p.P2273S c.6817C>T 2 204055095 MB C T Missense p.P808S c.2422C>T 2 203980710 CM C T Missense p.R2336C c.7006C>T 2 204062079 CM C T Missense p.S1668L c.5003C>T 2 204009564 BRCA C T Synonymous p.F1580F c.4740C>T 2 204003450 CM C T Synonymous p.L2614L c.7842C>T 2 204075824 PAAD C T Synonymous p.V94V c.282C>T 2 203914675 BRCA G A IntronicSNV . c.6834+649G>A 2 204055761 CM G A Missense p.A1952T c.5854G>A 2 204032027 CM G A Missense p.A2000T c.5998G>A 2 204034557 CM G A Missense p.D1295N c.3883G>A 2 204000556 CM G A Missense p.D2131N c.6391G>A 2 204045118 CM G A Missense p.E1457K c.4369G>A 2 204001388 LUAD G A Missense p.E1733K c.5197G>A 2 204009863 CM G A Missense p.G2597R c.7789G>A 2 204075771 STAD G A Missense p.G873R c.2617G>A 2 203990096 MB G A SpliceDonorSNV . c.6508+1G>A 2 204045236 STAD G C IntronicSNV . c.1098+2176G>C 2 203951468 CLL G C IntronicSNV . c.7419+25G>C 2 204067529 NSCLC G C Missense p.E1687Q c.5059G>C 2 204009620 HNSC G C Missense p.E2317Q c.6949G>C 2 204058632 BLCA G C Missense p.E2398Q c.7192G>C 2 204066306 LUSC G C Missense p.E2638Q c.7912G>C 2 204078305 HNSC G C Missense p.L1371F c.4113G>C 2 204000786 OV G C Missense p.Q1573H c.4719G>C 2 204003429 LGG G C Missense p.Q891H c.2673G>C 2 203990152 BRCA G - Frameshift p.G1905Afs*3 c.5714delG 2 204030957 LUAD GG TT Missense p.G2582L c.7744_7745delinsTT 2 204075726 CM GG TT Missense p.W2419F c.7256_7257delinsTT 2 204066370 CM GG TT Missense p.W752F c.2255_2256delinsTT 2 203977877 CM GG TT MultiAAMissense p.L518_G519delinsFW c.1554_1555delinsTT 2 203972603 CM GG TT MultiAAMissense p.Q369_G370delinsH* c.1107_1108delinsTT 2 203964360 CM GG TT SpliceAcceptorBlockSubstitution . c.5777-1_5777delinsTT 2 204031949 CM - G IntronicInsertion . c.4479-156_4479-155insG 2 204002729 CM GT - Frameshift p.E2163Dfs*9 c.6489_6490delGT 2 204045216 RCCC G T Missense p.G1478V c.4433G>T 2 204001452 BRCA G T Missense p.G2396W c.7186G>T 2 204066300 CM G T Missense p.G519W c.1555G>T 2 203972604 CM G T Missense p.L1111F c.3333G>T 2 203995055 CM G T Missense p.M1760I c.5280G>T 2 204013776 SCLC G T Missense p.Q326H c.978G>T 2 203948235 CM G T Missense p.R1034I c.3101G>T 2 203991589 SCLC G T Missense p.R2132L c.6395G>T 2 204045122 CM G T Missense p.R48S c.144G>T 2 203914537 CM G T Missense p.V1815L c.5443G>T 2 204016255 CM G T Missense p.V1902L c.5704G>T 2 204030948 BRCA G T Missense p.V2008L c.6022G>T 2 204036657 LUAD G T Nonsense p.E2310* c.6928G>T 2 204058611 BRCA G T Nonsense p.G690* c.2068G>T 2 203976774 CM G T Synonymous p.L1556L c.4668G>T 2 204003378 CM T A Missense p.F2093Y c.6278T>A 2 204039911 RCCC T A Missense p.I1378N c.4133T>A 2 204000806 STAD T C Missense p.I1098T c.3293T>C 2 203992635 BRCA T C Missense p.I1503T c.4508T>C 2 204002914 GBM T C Missense p.I668T c.2003T>C 2 203976709 RCCC T C Missense p.M2145T c.6434T>C 2 204045161 AML T C Missense p.V1289A c.3866T>C 2 204000539 GBM T C Synonymous p.D1843D c.5529T>C 2 204022450 NSCLC T G Missense p.L1483R c.4448T>G 2 204001467 SCLC T G Synonymous p.T2046T c.6138T>G 2 204037478 BRCA