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 14 31598273 31598273 + Missense_Mutation SNP A A T TCGA-OR-A5J2-01A-11D-A29I-10 TCGA-OR-A5J2-10A-01D-A29L-10 g.chr14:31598273A>T c.4304T>A c.(4303-4305)gTc>gAc p.V1435D ACC 14 31647449 31647449 + Missense_Mutation SNP C C T TCGA-OR-A5L3-01A-11D-A29I-10 TCGA-OR-A5L3-10A-01D-A29L-10 g.chr14:31647449C>T c.152G>A c.(151-153)cGc>cAc p.R51H BLCA 14 31570424 31570424 + Silent SNP G G A TCGA-XF-A9T6-01A-11D-A42E-08 TCGA-XF-A9T6-10A-01D-A42H-08 g.chr14:31570424G>A c.7657C>T c.(7657-7659)Ctg>Ttg p.L2553L BLCA 14 31574810 31574810 + Missense_Mutation SNP T T A TCGA-BT-A2LA-01A-11D-A18F-08 TCGA-BT-A2LA-11A-11D-A18F-08 g.chr14:31574810T>A c.7291A>T c.(7291-7293)Agt>Tgt p.S2431C BLCA 14 31574848 31574848 + Nonsense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr14:31574848G>C c.7253C>G c.(7252-7254)tCa>tGa p.S2418* BLCA 14 31575931 31575931 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr14:31575931C>T c.7147G>A c.(7147-7149)Gag>Aag p.E2383K BLCA 14 31576197 31576197 + Missense_Mutation SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 g.chr14:31576197C>T c.6881G>A c.(6880-6882)aGa>aAa p.R2294K BLCA 14 31576229 31576229 + Missense_Mutation SNP C C G TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 g.chr14:31576229C>G c.6849G>C c.(6847-6849)atG>atC p.M2283I BLCA 14 31576793 31576793 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 g.chr14:31576793G>A c.6598C>T c.(6598-6600)Cca>Tca p.P2200S BLCA 14 31582555 31582555 + Missense_Mutation SNP C C G TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 g.chr14:31582555C>G c.5992G>C c.(5992-5994)Gaa>Caa p.E1998Q BLCA 14 31585597 31585597 + Silent SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 g.chr14:31585597C>T c.5463G>A c.(5461-5463)ttG>ttA p.L1821L BLCA 14 31589062 31589064 + In_Frame_Del DEL TCT TCT - TCGA-GC-A6I1-01A-12D-A31L-08 TCGA-GC-A6I1-10A-01D-A31J-08 g.chr14:31589062_31589064delTCT c.5247_5249delAGA c.(5245-5250)gaagag>gag p.1749_1750EE>E BLCA 14 31592245 31592245 + Missense_Mutation SNP C C A TCGA-K4-A5RI-01A-11D-A289-08 TCGA-K4-A5RI-10A-01D-A289-08 g.chr14:31592245C>A c.4990G>T c.(4990-4992)Gat>Tat p.D1664Y BLCA 14 31597902 31597902 + Missense_Mutation SNP T T C TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr14:31597902T>C c.4675A>G c.(4675-4677)Aat>Gat p.N1559D BLCA 14 31597995 31597995 + Missense_Mutation SNP T T C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 g.chr14:31597995T>C c.4582A>G c.(4582-4584)Atg>Gtg p.M1528V BLCA 14 31598093 31598093 + Missense_Mutation SNP G G A TCGA-4Z-AA7Y-01A-11D-A391-08 TCGA-4Z-AA7Y-10A-01D-A394-08 g.chr14:31598093G>A c.4484C>T c.(4483-4485)tCt>tTt p.S1495F BLCA 14 31598196 31598196 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 g.chr14:31598196C>T c.4381G>A c.(4381-4383)Gaa>Aaa p.E1461K BLCA 14 31598292 31598292 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr14:31598292G>C c.4285C>G c.(4285-4287)Ctt>Gtt p.L1429V BLCA 14 31598386 31598386 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr14:31598386G>A c.4191C>T c.(4189-4191)atC>atT p.I1397I BLCA 14 31602500 31602500 + Missense_Mutation SNP C C T TCGA-UY-A9PF-01A-11D-A38G-08 TCGA-UY-A9PF-10A-01D-A38J-08 g.chr14:31602500C>T c.3866G>A c.(3865-3867)cGa>cAa p.R1289Q BLCA 14 31602831 31602831 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr14:31602831C>A c.3629G>T c.(3628-3630)tGg>tTg p.W1210L BLCA 14 31602842 31602842 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr14:31602842C>G c.3618G>C c.(3616-3618)gaG>gaC p.E1206D BLCA 14 31602844 31602844 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr14:31602844C>G c.3616G>C c.(3616-3618)Gag>Cag p.E1206Q BLCA 14 31611068 31611068 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 g.chr14:31611068C>T c.2869G>A c.(2869-2871)Gaa>Aaa p.E957K BLCA 14 31613367 31613367 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 g.chr14:31613367C>G c.2728G>C c.(2728-2730)Gaa>Caa p.E910Q BLCA 14 31614051 31614051 + Missense_Mutation SNP G G C TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr14:31614051G>C c.2593C>G c.(2593-2595)Cag>Gag p.Q865E BLCA 14 31614067 31614067 + Silent SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 g.chr14:31614067G>C c.2577C>G c.(2575-2577)ctC>ctG p.L859L BLCA 14 31619409 31619409 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr14:31619409C>T c.1951G>A c.(1951-1953)Gat>Aat p.D651N BLCA 14 31626439 31626439 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 g.chr14:31626439C>T c.1693G>A c.(1693-1695)Gat>Aat p.D565N BLCA 14 31637558 31637558 + Missense_Mutation SNP C C A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 g.chr14:31637558C>A c.1568G>T c.(1567-1569)aGg>aTg p.R523M BLCA 14 31642454 31642454 + Missense_Mutation SNP A A G TCGA-XF-AAMF-01A-21D-A42E-08 TCGA-XF-AAMF-10A-01D-A42H-08 g.chr14:31642454A>G c.1064T>C c.(1063-1065)tTa>tCa p.L355S BLCA 14 31642624 31642624 + Silent SNP C C T TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr14:31642624C>T c.894G>A c.(892-894)ctG>ctA p.L298L BLCA 14 31647240 31647240 + Missense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr14:31647240C>T c.361G>A c.(361-363)Gaa>Aaa p.E121K BLCA 14 31675047 31675047 + Silent SNP G G A TCGA-GC-A6I3-01A-11D-A31L-08 TCGA-GC-A6I3-10A-01D-A31J-08 g.chr14:31675047G>A c.96C>T c.(94-96)tgC>tgT p.C32C BRCA 14 31582337 31582337 + Missense_Mutation SNP A A C TCGA-EW-A1P8-01A-11D-A142-09 TCGA-EW-A1P8-10A-01D-A142-09 g.chr14:31582337A>C c.6123T>G c.(6121-6123)atT>atG p.I2041M BRCA 14 31582339 31582339 + Frame_Shift_Del DEL T T - TCGA-C8-A1HJ-01A-11D-A13L-09 TCGA-C8-A1HJ-10A-01D-A13O-09 g.chr14:31582339delT c.6121delA c.(6121-6123)attfs p.I2041fs BRCA 14 31585633 31585633 + Silent SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr14:31585633G>A c.5427C>T c.(5425-5427)gtC>gtT p.V1809V BRCA 14 31597881 31597881 + Missense_Mutation SNP G G C TCGA-B6-A0RG-01A-11W-A071-09 TCGA-B6-A0RG-10A-01W-A071-09 g.chr14:31597881G>C c.4696C>G c.(4696-4698)Cta>Gta p.L1566V BRCA 14 31598166 31598166 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr14:31598166G>A c.4411C>T c.(4411-4413)Cgt>Tgt p.R1471C BRCA 14 31598424 31598424 + Missense_Mutation SNP T T G TCGA-GI-A2C8-01A-11D-A16D-09 TCGA-GI-A2C8-11A-22D-A16D-09 g.chr14:31598424T>G c.4153A>C c.(4153-4155)Agc>Cgc p.S1385R BRCA 14 31604763 31604763 + Missense_Mutation SNP C C T TCGA-C8-A274-01A-11D-A16D-09 TCGA-C8-A274-10A-01D-A16D-09 g.chr14:31604763C>T c.3173G>A c.(3172-3174)aGa>aAa p.R1058K BRCA 14 31605749 31605749 + Nonsense_Mutation SNP G G C TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 g.chr14:31605749G>C c.3102C>G c.(3100-3102)taC>taG p.Y1034* BRCA 14 31605846 31605846 + Missense_Mutation SNP C C T TCGA-A8-A09W-01A-11W-A019-09 TCGA-A8-A09W-10A-01W-A021-09 g.chr14:31605846C>T c.3005G>A c.(3004-3006)cGg>cAg p.R1002Q BRCA 14 31614023 31614023 + Missense_Mutation SNP G G T TCGA-AC-A23G-01A-11D-A20S-09 TCGA-AC-A23G-11A-12D-A20S-09 g.chr14:31614023G>T c.2621C>A c.(2620-2622)aCa>aAa p.T874K BRCA 14 31642457 31642457 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr14:31642457C>T c.1061G>A c.(1060-1062)aGa>aAa p.R354K BRCA 14 31642857 31642857 + Silent SNP T T G TCGA-AO-A12E-01A-11D-A10M-09 TCGA-AO-A12E-10A-01D-A10M-09 g.chr14:31642857T>G c.759A>C c.(757-759)gcA>gcC p.A253A BRCA 14 31675003 31675003 + Splice_Site SNP G G C TCGA-A2-A0YM-01A-11D-A10G-09 TCGA-A2-A0YM-10A-01D-A10G-09 g.chr14:31675003G>C c.140C>G c.(139-141)aCa>aGa p.T47R CESC 14 31578721 31578721 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 g.chr14:31578721C>T c.6362G>A c.(6361-6363)gGa>gAa p.G2121E CESC 14 31597175 31597175 + Missense_Mutation SNP C C A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 g.chr14:31597175C>A c.4797G>T c.(4795-4797)ttG>ttT p.L1599F CESC 14 31598191 31598191 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr14:31598191C>T c.4386G>A c.(4384-4386)agG>agA p.R1462R CESC 14 31611083 31611083 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr14:31611083C>T c.2854G>A c.(2854-2856)Gaa>Aaa p.E952K CESC 14 31641296 31641296 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr14:31641296G>C c.1189C>G c.(1189-1191)Cag>Gag p.Q397E CESC 14 31644182 31644182 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr14:31644182G>C c.538C>G c.(538-540)Caa>Gaa p.Q180E CESC 14 31644208 31644208 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr14:31644208G>A c.512C>T c.(511-513)tCa>tTa p.S171L COAD 14 31576034 31576034 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:31576034G>A c.7044C>T c.(7042-7044)gaC>gaT p.D2348D COAD 14 31578716 31578716 + Missense_Mutation SNP A A G TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr14:31578716A>G c.6367T>C c.(6367-6369)Ttt>Ctt p.F2123L COAD 14 31582648 31582648 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr14:31582648C>T c.5899G>A c.(5899-5901)Gcc>Acc p.A1967T COAD 14 31589023 31589023 + Missense_Mutation SNP T T C TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr14:31589023T>C c.5288A>G c.(5287-5289)gAt>gGt p.D1763G COAD 14 31590658 31590658 + Silent SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr14:31590658C>T c.5169G>A c.(5167-5169)acG>acA p.T1723T COAD 14 31592182 31592182 + Missense_Mutation SNP C C T TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr14:31592182C>T c.5053G>A c.(5053-5055)Gat>Aat p.D1685N COAD 14 31597028 31597028 + Missense_Mutation SNP C C A TCGA-DM-A28K-01A-21D-A16V-10 TCGA-DM-A28K-10A-01D-A16V-10 g.chr14:31597028C>A c.4944G>T c.(4942-4944)gaG>gaT p.E1648D COAD 14 31597902 31597902 + Missense_Mutation SNP T T G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr14:31597902T>G c.4675A>C c.(4675-4677)Aat>Cat p.N1559H COAD 14 31598183 31598183 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr14:31598183C>T c.4394G>A c.(4393-4395)gGc>gAc p.G1465D COAD 14 31602566 31602566 + Missense_Mutation SNP C C T TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr14:31602566C>T c.3800G>A c.(3799-3801)cGt>cAt p.R1267H COAD 14 31602603 31602603 + Missense_Mutation SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr14:31602603C>T c.3763G>A c.(3763-3765)Gca>Aca p.A1255T COAD 14 31604203 31604203 + Silent SNP T T C TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr14:31604203T>C c.3453A>G c.(3451-3453)acA>acG p.T1151T COAD 14 31605847 31605847 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr14:31605847G>A c.3004C>T c.(3004-3006)Cgg>Tgg p.R1002W COAD 14 31614023 31614023 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:31614023G>T c.2621C>A c.(2620-2622)aCa>aAa p.T874K COAD 14 31619347 31619348 + Frame_Shift_Ins INS - - C TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr14:31619347_31619348insC c.2012_2013insG c.(2011-2013)ggafs p.G671fs COAD 14 31641128 31641128 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:31641128C>A c.1271G>T c.(1270-1272)aGa>aTa p.R424I COAD 14 31642954 31642954 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr14:31642954C>T c.662G>A c.(661-663)gGt>gAt p.G221D COAD 14 31647372 31647372 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr14:31647372C>T c.229G>A c.(229-231)Gcc>Acc p.A77T COADREAD 14 31572157 31572157 + Missense_Mutation SNP A A C TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr14:31572157A>C c.7515T>G c.(7513-7515)aaT>aaG p.N2505K COADREAD 14 31576034 31576034 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:31576034G>A c.7044C>T c.(7042-7044)gaC>gaT p.D2348D COADREAD 14 31578715 31578715 + Missense_Mutation SNP A A G TCGA-CI-6619-01B-11D-1826-10 TCGA-CI-6619-10A-01D-1826-10 g.chr14:31578715A>G c.6368T>C c.(6367-6369)tTt>tCt p.F2123S COADREAD 14 31578716 31578716 + Missense_Mutation SNP A A G TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr14:31578716A>G c.6367T>C c.(6367-6369)Ttt>Ctt p.F2123L COADREAD 14 31582526 31582526 + Silent SNP T T C TCGA-DC-6681-01A-11D-1826-10 TCGA-DC-6681-10A-01D-1826-10 g.chr14:31582526T>C c.6021A>G c.(6019-6021)ctA>ctG p.L2007L COADREAD 14 31582648 31582648 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr14:31582648C>T c.5899G>A c.(5899-5901)Gcc>Acc p.A1967T COADREAD 14 31589023 31589023 + Missense_Mutation SNP T T C TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr14:31589023T>C c.5288A>G c.(5287-5289)gAt>gGt p.D1763G COADREAD 14 31590658 31590658 + Silent SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr14:31590658C>T c.5169G>A c.(5167-5169)acG>acA p.T1723T COADREAD 14 31592182 31592182 + Missense_Mutation SNP C C T TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr14:31592182C>T c.5053G>A c.(5053-5055)Gat>Aat p.D1685N COADREAD 14 31597028 31597028 + Missense_Mutation SNP C C A TCGA-DM-A28K-01A-21D-A16V-10 TCGA-DM-A28K-10A-01D-A16V-10 g.chr14:31597028C>A c.4944G>T c.(4942-4944)gaG>gaT p.E1648D COADREAD 14 31597902 31597902 + Missense_Mutation SNP T T G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr14:31597902T>G c.4675A>C c.(4675-4677)Aat>Cat p.N1559H COADREAD 14 31598183 31598183 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr14:31598183C>T c.4394G>A c.(4393-4395)gGc>gAc p.G1465D COADREAD 14 31598438 31598438 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:31598438C>A c.4139G>T c.(4138-4140)aGt>aTt p.S1380I COADREAD 14 31602566 31602566 + Missense_Mutation SNP C C T TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr14:31602566C>T c.3800G>A c.(3799-3801)cGt>cAt p.R1267H COADREAD 14 31602603 31602603 + Missense_Mutation SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr14:31602603C>T c.3763G>A c.(3763-3765)Gca>Aca p.A1255T COADREAD 14 31604203 31604203 + Silent SNP T T C TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr14:31604203T>C c.3453A>G c.(3451-3453)acA>acG p.T1151T COADREAD 14 31605847 31605847 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr14:31605847G>A c.3004C>T c.(3004-3006)Cgg>Tgg p.R1002W COADREAD 14 31614023 31614023 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:31614023G>T c.2621C>A c.(2620-2622)aCa>aAa p.T874K COADREAD 14 31617997 31617997 + Missense_Mutation SNP T T A TCGA-AG-3902-01A-01W-1073-09 TCGA-AG-3902-10A-01W-1073-09 g.chr14:31617997T>A c.2426A>T c.(2425-2427)gAa>gTa p.E809V COADREAD 14 31619347 31619348 + Frame_Shift_Ins INS - - C TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr14:31619347_31619348insC c.2012_2013insG c.(2011-2013)ggafs p.G671fs COADREAD 14 31641128 31641128 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:31641128C>A c.1271G>T c.(1270-1272)aGa>aTa p.R424I COADREAD 14 31642954 31642954 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr14:31642954C>T c.662G>A c.(661-663)gGt>gAt p.G221D COADREAD 14 31647372 31647372 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr14:31647372C>T c.229G>A c.(229-231)Gcc>Acc p.A77T COADREAD 14 31675095 31675095 + Silent SNP T T C TCGA-DC-6160-01A-11D-1657-10 TCGA-DC-6160-10A-01D-1657-10 g.chr14:31675095T>C c.48A>G c.(46-48)ggA>ggG p.G16G DLBC 14 31598245 31598247 + In_Frame_Del DEL GGA GGA - TCGA-GS-A9TW-01A-11D-A382-10 TCGA-GS-A9TW-10A-01D-A385-10 g.chr14:31598245_31598247delGGA c.4330_4332delTCC c.(4330-4332)tccdel p.S1445del DLBC 14 31598249 31598250 + Frame_Shift_Ins INS - - C TCGA-GS-A9TW-01A-11D-A382-10 TCGA-GS-A9TW-10A-01D-A385-10 g.chr14:31598249_31598250insC c.4327_4328insG c.(4327-4329)tctfs p.S1443fs DLBC 14 31598253 31598253 + Missense_Mutation SNP A A T TCGA-GS-A9TW-01A-11D-A382-10 TCGA-GS-A9TW-10A-01D-A385-10 g.chr14:31598253A>T c.4324T>A c.(4324-4326)Tca>Aca p.S1442T DLBC 14 31626395 31626395 + Silent SNP G G T TCGA-FF-A7CR-01A-11D-A382-10 TCGA-FF-A7CR-10A-01D-A385-10 g.chr14:31626395G>T c.1737C>A c.(1735-1737)atC>atA p.I579I ESCA 14 31581629 31581629 + Missense_Mutation SNP C C T TCGA-2H-A9GJ-01A-11D-A37C-09 TCGA-2H-A9GJ-11A-11D-A37F-09 g.chr14:31581629C>T c.6271G>A c.(6271-6273)Gcc>Acc p.A2091T ESCA 14 31614117 31614117 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 g.chr14:31614117C>G c.2527G>C c.(2527-2529)Gac>Cac p.D843H ESCA 14 31647370 31647370 + Silent SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 g.chr14:31647370G>A c.231C>T c.(229-231)gcC>gcT p.A77A GBM 14 31582555 31582555 + Frame_Shift_Del DEL C C - TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 g.chr14:31582555delC c.5992delG c.(5992-5994)gaafs p.E1998fs GBM 14 31675061 31675061 + Missense_Mutation SNP G G A TCGA-41-3393-01A-01D-1353-08 TCGA-41-3393-10A-01D-1353-08 g.chr14:31675061G>A c.82C>T c.(82-84)Ctt>Ttt p.L28F GBMLGG 14 31576337 31576337 + Silent SNP G G A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 g.chr14:31576337G>A c.6741C>T c.(6739-6741)ttC>ttT p.F2247F GBMLGG 14 31582555 31582555 + Frame_Shift_Del DEL C C - TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 g.chr14:31582555delC c.5992delG c.(5992-5994)gaafs p.E1998fs GBMLGG 14 31582665 31582665 + Missense_Mutation SNP G G C TCGA-P5-A5EV-01A-11D-A27K-08 TCGA-P5-A5EV-10A-01D-A27N-08 g.chr14:31582665G>C c.5882C>G c.(5881-5883)tCt>tGt p.S1961C GBMLGG 14 31582671 31582671 + Missense_Mutation SNP G G C TCGA-P5-A5EV-01A-11D-A27K-08 TCGA-P5-A5EV-10A-01D-A27N-08 g.chr14:31582671G>C c.5876C>G c.(5875-5877)aCa>aGa p.T1959R GBMLGG 14 31590686 31590686 + Missense_Mutation SNP C C T TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 g.chr14:31590686C>T c.5141G>A c.(5140-5142)cGt>cAt p.R1714H GBMLGG 14 31597844 31597844 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:31597844A>G c.4733T>C c.(4732-4734)tTg>tCg p.L1578S GBMLGG 14 31618142 31618142 + Missense_Mutation SNP T T C TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 g.chr14:31618142T>C c.2380A>G c.(2380-2382)Aga>Gga p.R794G GBMLGG 14 31641315 31641315 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:31641315A>G c.1170T>C c.(1168-1170)aaT>aaC p.N390N GBMLGG 14 31675061 31675061 + Missense_Mutation SNP G G A TCGA-41-3393-01A-01D-1353-08 TCGA-41-3393-10A-01D-1353-08 g.chr14:31675061G>A c.82C>T c.(82-84)Ctt>Ttt p.L28F HNSC 14 31572142 31572142 + Silent SNP C C T TCGA-CQ-7072-01A-21D-A30E-08 TCGA-CQ-7072-10A-01D-A30H-08 g.chr14:31572142C>T c.7530G>A c.(7528-7530)aaG>aaA p.K2510K HNSC 14 31574596 31574596 + Silent SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr14:31574596G>A c.7392C>T c.(7390-7392)gcC>gcT p.A2464A HNSC 14 31576780 31576780 + Missense_Mutation SNP G G C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 g.chr14:31576780G>C c.6611C>G c.(6610-6612)tCt>tGt p.S2204C HNSC 14 31581693 31581693 + Missense_Mutation SNP G G T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 g.chr14:31581693G>T c.6207C>A c.(6205-6207)agC>agA p.S2069R HNSC 14 31581699 31581699 + Silent SNP T T C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 g.chr14:31581699T>C c.6201A>G c.(6199-6201)ttA>ttG p.L2067L HNSC 14 31583197 31583197 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr14:31583197T>C c.5742A>G c.(5740-5742)atA>atG p.I1914M HNSC 14 31588931 31588931 + Missense_Mutation SNP C C G TCGA-CQ-5334-01A-01D-1683-08 TCGA-CQ-5334-10A-01D-1683-08 g.chr14:31588931C>G c.5380G>C c.(5380-5382)Gaa>Caa p.E1794Q HNSC 14 31590677 31590677 + Missense_Mutation SNP C C A TCGA-CQ-7072-01A-21D-A30E-08 TCGA-CQ-7072-10A-01D-A30H-08 g.chr14:31590677C>A c.5150G>T c.(5149-5151)gGc>gTc p.G1717V HNSC 14 31597034 31597034 + Frame_Shift_Del DEL G G - TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 g.chr14:31597034delG c.4938delC c.(4936-4938)tccfs p.S1647fs HNSC 14 31598317 31598317 + Silent SNP A A C TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 g.chr14:31598317A>C c.4260T>G c.(4258-4260)gcT>gcG p.A1420A HNSC 14 31602773 31602773 + Silent SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 g.chr14:31602773G>A c.3687C>T c.(3685-3687)ctC>ctT p.L1229L HNSC 14 31602803 31602803 + Silent SNP C C T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 g.chr14:31602803C>T c.3657G>A c.(3655-3657)ggG>ggA p.G1219G HNSC 14 31614087 31614087 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 g.chr14:31614087G>A c.2557C>T c.(2557-2559)Cgt>Tgt p.R853C HNSC 14 31619322 31619322 + Missense_Mutation SNP C C T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 g.chr14:31619322C>T c.2038G>A c.(2038-2040)Gat>Aat p.D680N HNSC 14 31626071 31626071 + Missense_Mutation SNP T T G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 g.chr14:31626071T>G c.1907A>C c.(1906-1908)aAt>aCt p.N636T HNSC 14 31637671 31637671 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 g.chr14:31637671C>G c.1455G>C c.(1453-1455)tgG>tgC p.W485C HNSC 14 31642844 31642844 + Missense_Mutation SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 g.chr14:31642844G>A c.772C>T c.(772-774)Cgc>Tgc p.R258C HNSC 14 31644179 31644179 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr14:31644179C>T c.541G>A c.(541-543)Gat>Aat p.D181N HNSC 14 31644226 31644226 + Missense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 g.chr14:31644226G>A c.494C>T c.(493-495)tCt>tTt p.S165F KICH 14 31609189 31609189 + Missense_Mutation SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr14:31609189G>A c.2888C>T c.(2887-2889)gCg>gTg p.A963V KIPAN 14 31576342 31576342 + Missense_Mutation SNP G G A TCGA-DW-7963-01B-11D-A28G-10 TCGA-DW-7963-10C-01D-A28G-10 g.chr14:31576342G>A c.6736C>T c.(6736-6738)Cat>Tat p.H2246Y KIPAN 14 31582629 31582629 + Missense_Mutation SNP C C T TCGA-IA-A40Y-01A-11D-A25F-10 TCGA-IA-A40Y-10A-01D-A25F-10 g.chr14:31582629C>T c.5918G>A c.(5917-5919)aGt>aAt p.S1973N KIPAN 14 31604218 31604218 + Missense_Mutation SNP T T C TCGA-UZ-A9Q1-01A-11D-A42J-10 TCGA-UZ-A9Q1-10A-01D-A42M-10 g.chr14:31604218T>C c.3438A>G c.(3436-3438)atA>atG p.I1146M KIPAN 14 31609189 31609189 + Missense_Mutation SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr14:31609189G>A c.2888C>T c.(2887-2889)gCg>gTg p.A963V KIPAN 14 31613394 31613394 + Missense_Mutation SNP T T G TCGA-CJ-4638-01A-02D-1386-10 TCGA-CJ-4638-11A-01D-1251-10 g.chr14:31613394T>G c.2701A>C c.(2701-2703)Aag>Cag p.K901Q KIPAN 14 31637663 31637663 + Missense_Mutation SNP G G A TCGA-Y8-A897-01A-11D-A35Z-10 TCGA-Y8-A897-10A-01D-A35Z-10 g.chr14:31637663G>A c.1463C>T c.(1462-1464)cCa>cTa p.P488L KIRC 14 31613394 31613394 + Missense_Mutation SNP T T G TCGA-CJ-4638-01A-02D-1386-10 TCGA-CJ-4638-11A-01D-1251-10 g.chr14:31613394T>G c.2701A>C c.(2701-2703)Aag>Cag p.K901Q KIRP 14 31576342 31576342 + Missense_Mutation SNP G G A TCGA-DW-7963-01B-11D-A28G-10 TCGA-DW-7963-10C-01D-A28G-10 g.chr14:31576342G>A c.6736C>T c.(6736-6738)Cat>Tat p.H2246Y KIRP 14 31582629 31582629 + Missense_Mutation SNP C C T TCGA-IA-A40Y-01A-11D-A25F-10 TCGA-IA-A40Y-10A-01D-A25F-10 g.chr14:31582629C>T c.5918G>A c.(5917-5919)aGt>aAt p.S1973N KIRP 14 31604218 31604218 + Missense_Mutation SNP T T C TCGA-UZ-A9Q1-01A-11D-A42J-10 TCGA-UZ-A9Q1-10A-01D-A42M-10 g.chr14:31604218T>C c.3438A>G c.(3436-3438)atA>atG p.I1146M KIRP 14 31637663 31637663 + Missense_Mutation SNP G G A TCGA-Y8-A897-01A-11D-A35Z-10 TCGA-Y8-A897-10A-01D-A35Z-10 g.chr14:31637663G>A c.1463C>T c.(1462-1464)cCa>cTa p.P488L LGG 14 31576337 31576337 + Silent SNP G G A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 g.chr14:31576337G>A c.6741C>T c.(6739-6741)ttC>ttT p.F2247F LGG 14 31582665 31582665 + Missense_Mutation SNP G G C TCGA-P5-A5EV-01A-11D-A27K-08 TCGA-P5-A5EV-10A-01D-A27N-08 g.chr14:31582665G>C c.5882C>G c.(5881-5883)tCt>tGt p.S1961C LGG 14 31582671 31582671 + Missense_Mutation SNP G G C TCGA-P5-A5EV-01A-11D-A27K-08 TCGA-P5-A5EV-10A-01D-A27N-08 g.chr14:31582671G>C c.5876C>G c.(5875-5877)aCa>aGa p.T1959R LGG 14 31590686 31590686 + Missense_Mutation SNP C C T TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 g.chr14:31590686C>T c.5141G>A c.(5140-5142)cGt>cAt p.R1714H LGG 14 31597844 31597844 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:31597844A>G c.4733T>C c.(4732-4734)tTg>tCg p.L1578S LGG 14 31618142 31618142 + Missense_Mutation SNP T T C TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 g.chr14:31618142T>C c.2380A>G c.(2380-2382)Aga>Gga p.R794G LGG 14 31641315 31641315 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:31641315A>G c.1170T>C c.(1168-1170)aaT>aaC p.N390N LIHC 14 31570253 31570253 + Missense_Mutation SNP G G T TCGA-FV-A495-01A-11D-A25V-10 TCGA-FV-A495-10A-01D-A25V-10 g.chr14:31570253G>T c.7716C>A c.(7714-7716)agC>agA p.S2572R LIHC 14 31575935 31575935 + Silent SNP T T C TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr14:31575935T>C c.7143A>G c.(7141-7143)gaA>gaG p.E2381E LIHC 14 31576779 31576779 + Silent SNP A A G TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr14:31576779A>G c.6612T>C c.(6610-6612)tcT>tcC p.S2204S LIHC 14 31576900 31576900 + Missense_Mutation SNP A A G TCGA-DD-AACJ-01A-11D-A40R-10 TCGA-DD-AACJ-10A-01D-A40U-10 g.chr14:31576900A>G c.6491T>C c.(6490-6492)tTa>tCa p.L2164S LIHC 14 31583498 31583498 + Silent SNP T T C TCGA-CC-A3MA-01A-11D-A20W-10 TCGA-CC-A3MA-10A-01D-A20W-10 g.chr14:31583498T>C c.5667A>G c.(5665-5667)ggA>ggG p.G1889G LIHC 14 31597196 31597196 + Silent SNP A A G TCGA-5R-AA1C-01A-11D-A40R-10 TCGA-5R-AA1C-10A-01D-A40U-10 g.chr14:31597196A>G c.4776T>C c.(4774-4776)ggT>ggC p.G1592G LIHC 14 31597908 31597908 + Missense_Mutation SNP G G A TCGA-BC-A216-01A-11D-A152-10 TCGA-BC-A216-11A-11D-A152-10 g.chr14:31597908G>A c.4669C>T c.(4669-4671)Cgg>Tgg p.R1557W LIHC 14 31604292 31604292 + Missense_Mutation SNP T T C TCGA-DD-AACZ-01A-11D-A40R-10 TCGA-DD-AACZ-10A-01D-A40U-10 g.chr14:31604292T>C c.3364A>G c.(3364-3366)Aat>Gat p.N1122D LIHC 14 31613412 31613412 + Missense_Mutation SNP T T A TCGA-ZS-A9CG-01A-11D-A36X-10 TCGA-ZS-A9CG-10A-01D-A370-10 g.chr14:31613412T>A c.2683A>T c.(2683-2685)Aac>Tac p.N895Y LIHC 14 31617938 31617938 + Frame_Shift_Del DEL T T - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr14:31617938delT c.2485delA c.(2485-2487)acafs p.T829fs LIHC 14 31617960 31617960 + Frame_Shift_Del DEL T T - TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr14:31617960delT c.2463delA c.(2461-2463)aaafs p.K821fs LIHC 14 31626433 31626433 + Missense_Mutation SNP C C T TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr14:31626433C>T c.1699G>A c.(1699-1701)Gat>Aat p.D567N LIHC 14 31641123 31641123 + Nonsense_Mutation SNP G G A TCGA-CC-A7IH-01A-11D-A33K-10 TCGA-CC-A7IH-10A-01D-A33K-10 g.chr14:31641123G>A c.1276C>T c.(1276-1278)Caa>Taa p.Q426* LIHC 14 31642418 31642418 + Missense_Mutation SNP A A G TCGA-DD-AACW-01A-11D-A40R-10 TCGA-DD-AACW-10A-01D-A40U-10 g.chr14:31642418A>G c.1100T>C c.(1099-1101)aTa>aCa p.I367T LIHC 14 31647288 31647288 + Missense_Mutation SNP G G A TCGA-DD-AACP-01A-11D-A40R-10 TCGA-DD-AACP-10A-01D-A40U-10 g.chr14:31647288G>A c.313C>T c.(313-315)Cgt>Tgt p.R105C LUAD 14 31570180 31570180 + Missense_Mutation SNP G G A TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr14:31570180G>A c.7789C>T c.(7789-7791)Cgc>Tgc p.R2597C LUAD 14 31576369 31576369 + Missense_Mutation SNP C C T TCGA-50-5044-01A-21D-1855-08 TCGA-50-5044-10A-01D-1855-08 g.chr14:31576369C>T c.6709G>A c.(6709-6711)Gag>Aag p.E2237K LUAD 14 31576778 31576778 + Missense_Mutation SNP G G C TCGA-17-Z062-01A-01W-0747-08 TCGA-17-Z062-11A-01W-0747-08 g.chr14:31576778G>C c.6613C>G c.(6613-6615)Cgt>Ggt p.R2205G LUAD 14 31583534 31583534 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr14:31583534T>A c.5631A>T c.(5629-5631)agA>agT p.R1877S LUAD 14 31585576 31585576 + Silent SNP C C A TCGA-44-7660-01A-11D-2063-08 TCGA-44-7660-10A-01D-2063-08 g.chr14:31585576C>A c.5484G>T c.(5482-5484)acG>acT p.T1828T LUAD 14 31589063 31589063 + Missense_Mutation SNP C C G TCGA-80-5607-01A-31D-1945-08 TCGA-80-5607-10A-01D-1946-08 g.chr14:31589063C>G c.5248G>C c.(5248-5250)Gag>Cag p.E1750Q LUAD 14 31592131 31592131 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 g.chr14:31592131C>T c.5104G>A c.(5104-5106)Gag>Aag p.E1702K LUAD 14 31597041 31597041 + Nonsense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 g.chr14:31597041G>C c.4931C>G c.(4930-4932)tCa>tGa p.S1644* LUAD 14 31597204 31597206 + In_Frame_Del DEL GAG GAG - TCGA-17-Z062-01A-01W-0747-08 TCGA-17-Z062-11A-01W-0747-08 g.chr14:31597204_31597206delGAG c.4766_4768delCTC c.(4765-4770)cctctt>ctt p.P1589del LUAD 14 31597942 31597942 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr14:31597942C>T c.4635G>A c.(4633-4635)ttG>ttA p.L1545L LUAD 14 31598245 31598245 + Silent SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 g.chr14:31598245G>A c.4332C>T c.(4330-4332)tcC>tcT p.S1444S LUAD 14 31598368 31598368 + Missense_Mutation SNP T T A TCGA-86-8673-01A-11D-2393-08 TCGA-86-8673-10A-01D-2393-08 g.chr14:31598368T>A c.4209A>T c.(4207-4209)aaA>aaT p.K1403N LUAD 14 31602521 31602521 + Missense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 g.chr14:31602521C>T c.3845G>A c.(3844-3846)aGa>aAa p.R1282K LUAD 14 31602531 31602531 + Missense_Mutation SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 g.chr14:31602531G>A c.3835C>T c.(3835-3837)Cgt>Tgt p.R1279C LUAD 14 31602763 31602763 + Missense_Mutation SNP C C G TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr14:31602763C>G c.3697G>C c.(3697-3699)Gga>Cga p.G1233R LUAD 14 31604167 31604167 + Silent SNP C C A TCGA-91-6836-01A-21D-1855-08 TCGA-91-6836-11A-01D-1855-08 g.chr14:31604167C>A c.3489G>T c.(3487-3489)ctG>ctT p.L1163L LUAD 14 31613401 31613401 + Silent SNP T T C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 g.chr14:31613401T>C c.2694A>G c.(2692-2694)gtA>gtG p.V898V LUAD 14 31619285 31619285 + Missense_Mutation SNP C C A TCGA-97-8174-01A-11D-2284-08 TCGA-97-8174-10A-01D-2284-08 g.chr14:31619285C>A c.2075G>T c.(2074-2076)gGa>gTa p.G692V LUAD 14 31626111 31626111 + Missense_Mutation SNP T T C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 g.chr14:31626111T>C c.1867A>G c.(1867-1869)Aaa>Gaa p.K623E LUAD 14 31637595 31637595 + Missense_Mutation SNP T T C TCGA-44-6144-01A-11D-1753-08 TCGA-44-6144-10A-01D-1753-08 g.chr14:31637595T>C c.1531A>G c.(1531-1533)Aaa>Gaa p.K511E LUAD 14 31637636 31637636 + Missense_Mutation SNP T T C TCGA-44-6144-01A-11D-1753-08 TCGA-44-6144-10A-01D-1753-08 g.chr14:31637636T>C c.1490A>G c.(1489-1491)aAg>aGg p.K497R LUAD 14 31641128 31641128 + Missense_Mutation SNP C C G TCGA-93-8067-01A-11D-2284-08 TCGA-93-8067-10A-01D-2284-08 g.chr14:31641128C>G c.1271G>C c.(1270-1272)aGa>aCa p.R424T LUAD 14 31642916 31642916 + Missense_Mutation SNP C C T TCGA-17-Z049-01A-01W-0746-08 TCGA-17-Z049-11A-01W-0747-08 g.chr14:31642916C>T c.700G>A c.(700-702)Gag>Aag p.E234K LUAD 14 31643008 31643008 + Missense_Mutation SNP G G A TCGA-44-8120-01A-11D-2238-08 TCGA-44-8120-10A-01D-2238-08 g.chr14:31643008G>A c.608C>T c.(607-609)tCa>tTa p.S203L LUAD 14 31644125 31644125 + Missense_Mutation SNP C C A TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 g.chr14:31644125C>A c.595G>T c.(595-597)Gat>Tat p.D199Y LUSC 14 31578712 31578712 + Missense_Mutation SNP C C A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr14:31578712C>A c.6371G>T c.(6370-6372)cGa>cTa p.R2124L LUSC 14 31585550 31585550 + Missense_Mutation SNP G G C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 g.chr14:31585550G>C c.5510C>G c.(5509-5511)aCc>aGc p.T1837S LUSC 14 31602498 31602498 + Missense_Mutation SNP C C G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 g.chr14:31602498C>G c.3868G>C c.(3868-3870)Gat>Cat p.D1290H LUSC 14 31604320 31604320 + Silent SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr14:31604320G>A c.3336C>T c.(3334-3336)ggC>ggT p.G1112G LUSC 14 31609180 31609180 + Missense_Mutation SNP C C T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 g.chr14:31609180C>T c.2897G>A c.(2896-2898)cGa>cAa p.R966Q LUSC 14 31642569 31642569 + Missense_Mutation SNP C C A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 g.chr14:31642569C>A c.949G>T c.(949-951)Gtg>Ttg p.V317L OV 14 31578715 31578715 + Missense_Mutation SNP A A T TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 g.chr14:31578715A>T c.6368T>A c.(6367-6369)tTt>tAt p.F2123Y OV 14 31583260 31583260 + Missense_Mutation SNP G G C TCGA-04-1367-01A-01W-0492-08 TCGA-04-1367-10A-01W-0492-08 g.chr14:31583260G>C c.5679C>G c.(5677-5679)tgC>tgG p.C1893W OV 14 31604773 31604773 + Nonsense_Mutation SNP G G A TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 g.chr14:31604773G>A c.3163C>T c.(3163-3165)Cga>Tga p.R1055* OV 14 31647453 31647453 + Missense_Mutation SNP G G T TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 g.chr14:31647453G>T c.148C>A c.(148-150)Cct>Act p.P50T PAAD 14 31575880 31575880 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 g.chr14:31575880C>T c.7198G>A c.(7198-7200)Ggg>Agg p.G2400R PAAD 14 31576215 31576215 + Missense_Mutation SNP T T A TCGA-2L-AAQA-01A-21D-A38G-08 TCGA-2L-AAQA-11A-11D-A38J-08 g.chr14:31576215T>A c.6863A>T c.(6862-6864)tAt>tTt p.Y2288F PAAD 14 31576881 31576881 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:31576881G>A c.6510C>T c.(6508-6510)ggC>ggT p.G2170G PAAD 14 31597095 31597095 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:31597095G>A c.4877C>T c.(4876-4878)aCa>aTa p.T1626I PAAD 14 31597990 31597990 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:31597990G>T c.4587C>A c.(4585-4587)agC>agA p.S1529R PAAD 14 31618318 31618318 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:31618318A>G c.2204T>C c.(2203-2205)gTa>gCa p.V735A PAAD 14 31641142 31641142 + Silent SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:31641142A>G c.1257T>C c.(1255-1257)ggT>ggC p.G419G PAAD 14 31647447 31647447 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:31647447T>C c.154A>G c.(154-156)Act>Gct p.T52A PCPG 14 31581747 31581747 + Missense_Mutation SNP T T A TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 g.chr14:31581747T>A c.6153A>T c.(6151-6153)gaA>gaT p.E2051D PRAD 14 31576284 31576284 + Missense_Mutation SNP G G C TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 g.chr14:31576284G>C c.6794C>G c.(6793-6795)cCt>cGt p.P2265R PRAD 14 31578798 31578798 + Missense_Mutation SNP T T C TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr14:31578798T>C c.6285A>G c.(6283-6285)atA>atG p.I2095M PRAD 14 31613366 31613366 + Missense_Mutation SNP T T C TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr14:31613366T>C c.2729A>G c.(2728-2730)gAa>gGa p.E910G PRAD 14 31614086 31614086 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr14:31614086C>T c.2558G>A c.(2557-2559)cGt>cAt p.R853H PRAD 14 31617976 31617976 + Missense_Mutation SNP C C T TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 g.chr14:31617976C>T c.2447G>A c.(2446-2448)gGc>gAc p.G816D READ 14 31572157 31572157 + Missense_Mutation SNP A A C TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr14:31572157A>C c.7515T>G c.(7513-7515)aaT>aaG p.N2505K READ 14 31578715 31578715 + Missense_Mutation SNP A A G TCGA-CI-6619-01B-11D-1826-10 TCGA-CI-6619-10A-01D-1826-10 g.chr14:31578715A>G c.6368T>C c.(6367-6369)tTt>tCt p.F2123S READ 14 31582526 31582526 + Silent SNP T T C TCGA-DC-6681-01A-11D-1826-10 TCGA-DC-6681-10A-01D-1826-10 g.chr14:31582526T>C c.6021A>G c.(6019-6021)ctA>ctG p.L2007L READ 14 31598438 31598438 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:31598438C>A c.4139G>T c.(4138-4140)aGt>aTt p.S1380I READ 14 31617997 31617997 + Missense_Mutation SNP T T A TCGA-AG-3902-01A-01W-1073-09 TCGA-AG-3902-10A-01W-1073-09 g.chr14:31617997T>A c.2426A>T c.(2425-2427)gAa>gTa p.E809V READ 14 31675095 31675095 + Silent SNP T T C TCGA-DC-6160-01A-11D-1657-10 TCGA-DC-6160-10A-01D-1657-10 g.chr14:31675095T>C c.48A>G c.(46-48)ggA>ggG p.G16G SARC 14 31588985 31588985 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chr14:31588985G>A c.5326C>T c.(5326-5328)Cct>Tct p.P1776S SKCM 14 31570189 31570189 + Missense_Mutation SNP T T A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr14:31570189T>A c.7780A>T c.(7780-7782)Atg>Ttg p.M2594L SKCM 14 31570518 31570518 + Silent SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr14:31570518C>T c.7563G>A c.(7561-7563)ctG>ctA p.L2521L SKCM 14 31578782 31578782 + Nonsense_Mutation SNP G G A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr14:31578782G>A c.6301C>T c.(6301-6303)Cga>Tga p.R2101* SKCM 14 31583155 31583155 + Silent SNP G G A TCGA-EE-A20F-06A-21D-A196-08 TCGA-EE-A20F-10A-01D-A198-08 g.chr14:31583155G>A c.5784C>T c.(5782-5784)caC>caT p.H1928H SKCM 14 31597181 31597181 + Silent SNP A A C TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr14:31597181A>C c.4791T>G c.(4789-4791)ccT>ccG p.P1597P SKCM 14 31597182 31597182 + Missense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr14:31597182G>A c.4790C>T c.(4789-4791)cCt>cTt p.P1597L SKCM 14 31598181 31598181 + Missense_Mutation SNP G G A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 g.chr14:31598181G>A c.4396C>T c.(4396-4398)Cct>Tct p.P1466S SKCM 14 31598272 31598272 + Silent SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr14:31598272G>A c.4305C>T c.(4303-4305)gtC>gtT p.V1435V SKCM 14 31598524 31598524 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr14:31598524G>A c.4053C>T c.(4051-4053)tcC>tcT p.S1351S SKCM 14 31602754 31602755 + Frame_Shift_Ins INS - - T TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 g.chr14:31602754_31602755insT c.3705_3706insA c.(3703-3708)gaacttfs p.L1236fs SKCM 14 31604173 31604173 + Silent SNP A A G TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr14:31604173A>G c.3483T>C c.(3481-3483)tcT>tcC p.S1161S SKCM 14 31614085 31614085 + Silent SNP A A T TCGA-EE-A29P-06A-11D-A197-08 TCGA-EE-A29P-10A-01D-A199-08 g.chr14:31614085A>T c.2559T>A c.(2557-2559)cgT>cgA p.R853R SKCM 14 31619269 31619269 + Silent SNP G G A TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr14:31619269G>A c.2091C>T c.(2089-2091)atC>atT p.I697I SKCM 14 31626090 31626090 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr14:31626090G>A c.1888C>T c.(1888-1890)Cct>Tct p.P630S SKCM 14 31626487 31626487 + Nonsense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr14:31626487G>A c.1645C>T c.(1645-1647)Cga>Tga p.R549* SKCM 14 31637529 31637529 + Nonsense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr14:31637529G>A c.1597C>T c.(1597-1599)Cag>Tag p.Q533* SKCM 14 31638563 31638563 + Missense_Mutation SNP G G A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr14:31638563G>A c.1444C>T c.(1444-1446)Cca>Tca p.P482S SKCM 14 31642629 31642629 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr14:31642629G>A c.889C>T c.(889-891)Ctt>Ttt p.L297F SKCM 14 31642763 31642763 + Missense_Mutation SNP T T A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 g.chr14:31642763T>A c.853A>T c.(853-855)Aca>Tca p.T285S SKCM 14 31642962 31642962 + Silent SNP G G A TCGA-ER-A19W-06A-41D-A23B-08 TCGA-ER-A19W-10A-01D-A23B-08 g.chr14:31642962G>A c.654C>T c.(652-654)acC>acT p.T218T

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 14 31576342 31576342 single base substitution G A downstream_gene_variant BLCA-CN 14 31576342 31576342 single base substitution G A exon_variant BLCA-CN 14 31576342 31576342 single base substitution G A missense_variant H2246Y 6736C>T BLCA-CN 14 31576342 31576342 single base substitution G A missense_variant H611Y 1831C>T BLCA-CN 14 31576342 31576342 single base substitution G A upstream_gene_variant BLCA-CN 14 31605873 31605873 single base substitution T C exon_variant BLCA-CN 14 31605873 31605873 single base substitution T C splice_acceptor_variant BLCA-CN 14 31605873 31605873 single base substitution T C upstream_gene_variant BLCA-CN 14 31609139 31609139 single base substitution G C downstream_gene_variant BLCA-CN 14 31609139 31609139 single base substitution G C missense_variant L454V 1360C>G BLCA-CN 14 31609139 31609139 single base substitution G C missense_variant L980V 2938C>G BLCA-CN 14 31609139 31609139 single base substitution G C upstream_gene_variant BLCA-CN 14 31626153 31626153 single base substitution C G missense_variant D609H 1825G>C BLCA-CN 14 31626153 31626153 single base substitution C G missense_variant D83H 247G>C BLCA-CN 14 31644125 31644125 single base substitution C T downstream_gene_variant BLCA-CN 14 31644125 31644125 single base substitution C T exon_variant BLCA-CN 14 31644125 31644125 single base substitution C T missense_variant D199N 595G>A BLCA-US 14 31572252 31572252 single base substitution G C exon_variant BLCA-US 14 31572252 31572252 single base substitution G C missense_variant P2474A 7420C>G BLCA-US 14 31572252 31572252 single base substitution G C missense_variant P839A 2515C>G BLCA-US 14 31572252 31572252 single base substitution G C upstream_gene_variant BLCA-US 14 31574848 31574848 single base substitution G C downstream_gene_variant BLCA-US 14 31574848 31574848 single base substitution G C exon_variant BLCA-US 14 31574848 31574848 single base substitution G C stop_gained S2418* 7253C>G BLCA-US 14 31574848 31574848 single base substitution G C stop_gained S783* 2348C>G BLCA-US 14 31574848 31574848 single base substitution G C upstream_gene_variant BLCA-US 14 31575931 31575931 single base substitution C T downstream_gene_variant BLCA-US 14 31575931 31575931 single base substitution C T exon_variant BLCA-US 14 31575931 31575931 single base substitution C T missense_variant E2383K 7147G>A BLCA-US 14 31575931 31575931 single base substitution C T missense_variant E748K 2242G>A BLCA-US 14 31575931 31575931 single base substitution C T upstream_gene_variant BLCA-US 14 31598292 31598292 single base substitution G C intron_variant BLCA-US 14 31598292 31598292 single base substitution G C missense_variant L1429V 4285C>G BLCA-US 14 31598292 31598292 single base substitution G C missense_variant L856V 2566C>G BLCA-US 14 31598292 31598292 single base substitution G C upstream_gene_variant BLCA-US 14 31598386 31598386 single base substitution G A intron_variant BLCA-US 14 31598386 31598386 single base substitution G A synonymous_variant I1397I 4191C>T BLCA-US 14 31598386 31598386 single base substitution G A synonymous_variant I824I 2472C>T BLCA-US 14 31598386 31598386 single base substitution G A upstream_gene_variant BLCA-US 14 31602831 31602831 single base substitution C A downstream_gene_variant BLCA-US 14 31602831 31602831 single base substitution C A missense_variant W1210L 3629G>T BLCA-US 14 31602831 31602831 single base substitution C A missense_variant W40L 119G>T BLCA-US 14 31602831 31602831 single base substitution C A missense_variant W684L 2051G>T BLCA-US 14 31602831 31602831 single base substitution C A upstream_gene_variant BLCA-US 14 31602842 31602842 single base substitution C G downstream_gene_variant BLCA-US 14 31602842 31602842 single base substitution C G missense_variant E1206D 3618G>C BLCA-US 14 31602842 31602842 single base substitution C G missense_variant E36D 108G>C BLCA-US 14 31602842 31602842 single base substitution C G missense_variant E680D 2040G>C BLCA-US 14 31602842 31602842 single base substitution C G upstream_gene_variant BLCA-US 14 31602844 31602844 single base substitution C G downstream_gene_variant BLCA-US 14 31602844 31602844 single base substitution C G missense_variant E1206Q 3616G>C BLCA-US 14 31602844 31602844 single base substitution C G missense_variant E36Q 106G>C BLCA-US 14 31602844 31602844 single base substitution C G missense_variant E680Q 2038G>C BLCA-US 14 31602844 31602844 single base substitution C G upstream_gene_variant BLCA-US 14 31611068 31611068 single base substitution C T downstream_gene_variant BLCA-US 14 31611068 31611068 single base substitution C T missense_variant E431K 1291G>A BLCA-US 14 31611068 31611068 single base substitution C T missense_variant E957K 2869G>A BLCA-US 14 31613367 31613367 single base substitution C G missense_variant E384Q 1150G>C BLCA-US 14 31613367 31613367 single base substitution C G missense_variant E910Q 2728G>C BLCA-US 14 31614067 31614067 single base substitution G C synonymous_variant L333L 999C>G BLCA-US 14 31614067 31614067 single base substitution G C synonymous_variant L859L 2577C>G BLCA-US 14 31626439 31626439 single base substitution C T missense_variant D39N 115G>A BLCA-US 14 31626439 31626439 single base substitution C T missense_variant D565N 1693G>A BLCA-US 14 31637558 31637558 single base substitution C A downstream_gene_variant BLCA-US 14 31637558 31637558 single base substitution C A missense_variant R523M 1568G>T BLCA-US 14 31637558 31637558 single base substitution C A upstream_gene_variant BOCA-FR 14 31588940 31588940 single base substitution T C downstream_gene_variant BOCA-FR 14 31588940 31588940 single base substitution T C exon_variant BOCA-FR 14 31588940 31588940 single base substitution T C missense_variant T1218A 3652A>G BOCA-FR 14 31588940 31588940 single base substitution T C missense_variant T156A 466A>G BOCA-FR 14 31588940 31588940 single base substitution T C missense_variant T1791A 5371A>G BOCA-FR 14 31607019 31607019 single base substitution T G intron_variant BOCA-FR 14 31607019 31607019 single base substitution T G upstream_gene_variant BRCA-EU 14 31564627 31564627 single base substitution T A downstream_gene_variant BRCA-EU 14 31565205 31565205 single base substitution C T downstream_gene_variant BRCA-EU 14 31565861 31565861 single base substitution G A downstream_gene_variant BRCA-EU 14 31565918 31565918 single base substitution A T downstream_gene_variant BRCA-EU 14 31566740 31566740 single base substitution T G downstream_gene_variant BRCA-EU 14 31566758 31566758 single base substitution A C downstream_gene_variant BRCA-EU 14 31566957 31566957 single base substitution G A downstream_gene_variant BRCA-EU 14 31567597 31567597 single base substitution T C downstream_gene_variant BRCA-EU 14 31570054 31570054 single base substitution T C 3_prime_UTR_variant BRCA-EU 14 31570054 31570054 single base substitution T C downstream_gene_variant BRCA-EU 14 31570054 31570054 single base substitution T C exon_variant BRCA-EU 14 31570511 31570511 single base substitution C T downstream_gene_variant BRCA-EU 14 31570511 31570511 single base substitution C T exon_variant BRCA-EU 14 31570511 31570511 single base substitution C T missense_variant V2524M 7570G>A BRCA-EU 14 31570511 31570511 single base substitution C T missense_variant V889M 2665G>A BRCA-EU 14 31570674 31570674 single base substitution A G downstream_gene_variant BRCA-EU 14 31570674 31570674 single base substitution A G intron_variant BRCA-EU 14 31570674 31570674 single base substitution A G upstream_gene_variant BRCA-EU 14 31570677 31570677 single base substitution T G downstream_gene_variant BRCA-EU 14 31570677 31570677 single base substitution T G intron_variant BRCA-EU 14 31570677 31570677 single base substitution T G upstream_gene_variant BRCA-EU 14 31570947 31570947 single base substitution G A downstream_gene_variant BRCA-EU 14 31570947 31570947 single base substitution G A intron_variant BRCA-EU 14 31570947 31570947 single base substitution G A upstream_gene_variant BRCA-EU 14 31573401 31573401 single base substitution C A downstream_gene_variant BRCA-EU 14 31573401 31573401 single base substitution C A intron_variant BRCA-EU 14 31573401 31573401 single base substitution C A upstream_gene_variant BRCA-EU 14 31573815 31573815 single base substitution C T downstream_gene_variant BRCA-EU 14 31573815 31573815 single base substitution C T intron_variant BRCA-EU 14 31573815 31573815 single base substitution C T upstream_gene_variant BRCA-EU 14 31576081 31576081 single base substitution T C downstream_gene_variant BRCA-EU 14 31576081 31576081 single base substitution T C exon_variant BRCA-EU 14 31576081 31576081 single base substitution T C missense_variant K2333E 6997A>G BRCA-EU 14 31576081 31576081 single base substitution T C missense_variant K698E 2092A>G BRCA-EU 14 31576081 31576081 single base substitution T C upstream_gene_variant BRCA-EU 14 31576850 31576850 single base substitution C T downstream_gene_variant BRCA-EU 14 31576850 31576850 single base substitution C T exon_variant BRCA-EU 14 31576850 31576850 single base substitution C T missense_variant V2181M 6541G>A BRCA-EU 14 31576850 31576850 single base substitution C T missense_variant V546M 1636G>A BRCA-EU 14 31576850 31576850 single base substitution C T upstream_gene_variant BRCA-EU 14 31577498 31577498 single base substitution G A downstream_gene_variant BRCA-EU 14 31577498 31577498 single base substitution G A intron_variant BRCA-EU 14 31577498 31577498 single base substitution G A upstream_gene_variant BRCA-EU 14 31577880 31577880 single base substitution A G downstream_gene_variant BRCA-EU 14 31577880 31577880 single base substitution A G intron_variant BRCA-EU 14 31577880 31577880 single base substitution A G upstream_gene_variant BRCA-EU 14 31578890 31578890 single base substitution G C downstream_gene_variant BRCA-EU 14 31578890 31578890 single base substitution G C intron_variant BRCA-EU 14 31578890 31578890 single base substitution G C upstream_gene_variant BRCA-EU 14 31579252 31579252 single base substitution G T downstream_gene_variant BRCA-EU 14 31579252 31579252 single base substitution G T intron_variant BRCA-EU 14 31579252 31579252 single base substitution G T upstream_gene_variant BRCA-EU 14 31579798 31579799 deletion of <=200bp TT - downstream_gene_variant BRCA-EU 14 31579798 31579799 deletion of <=200bp TT - intron_variant BRCA-EU 14 31579798 31579799 deletion of <=200bp TT - upstream_gene_variant BRCA-EU 14 31580803 31580803 single base substitution C T downstream_gene_variant BRCA-EU 14 31580803 31580803 single base substitution C T intron_variant BRCA-EU 14 31581604 31581604 deletion of <=200bp A - downstream_gene_variant BRCA-EU 14 31581604 31581604 deletion of <=200bp A - intron_variant BRCA-EU 14 31582299 31582299 single base substitution G A downstream_gene_variant BRCA-EU 14 31582299 31582299 single base substitution G A intron_variant BRCA-EU 14 31582299 31582299 single base substitution G A upstream_gene_variant BRCA-EU 14 31585099 31585099 single base substitution C T downstream_gene_variant BRCA-EU 14 31585099 31585099 single base substitution C T intron_variant BRCA-EU 14 31585099 31585099 single base substitution C T upstream_gene_variant BRCA-EU 14 31585138 31585138 single base substitution C T downstream_gene_variant BRCA-EU 14 31585138 31585138 single base substitution C T intron_variant BRCA-EU 14 31585138 31585138 single base substitution C T upstream_gene_variant BRCA-EU 14 31587854 31587854 single base substitution C T downstream_gene_variant BRCA-EU 14 31587854 31587854 single base substitution C T intron_variant BRCA-EU 14 31587854 31587854 single base substitution C T upstream_gene_variant BRCA-EU 14 31589258 31589258 single base substitution T A intron_variant BRCA-EU 14 31593476 31593476 single base substitution G A downstream_gene_variant BRCA-EU 14 31593476 31593476 single base substitution G A intron_variant BRCA-EU 14 31593476 31593476 single base substitution G A upstream_gene_variant BRCA-EU 14 31594044 31594044 single base substitution C T downstream_gene_variant BRCA-EU 14 31594044 31594044 single base substitution C T intron_variant BRCA-EU 14 31594044 31594044 single base substitution C T upstream_gene_variant BRCA-EU 14 31594673 31594673 single base substitution C T downstream_gene_variant BRCA-EU 14 31594673 31594673 single base substitution C T intron_variant BRCA-EU 14 31594673 31594673 single base substitution C T upstream_gene_variant BRCA-EU 14 31595067 31595067 single base substitution A T downstream_gene_variant BRCA-EU 14 31595067 31595067 single base substitution A T intron_variant BRCA-EU 14 31595067 31595067 single base substitution A T upstream_gene_variant BRCA-EU 14 31595536 31595536 single base substitution G C downstream_gene_variant BRCA-EU 14 31595536 31595536 single base substitution G C intron_variant BRCA-EU 14 31595536 31595536 single base substitution G C upstream_gene_variant BRCA-EU 14 31595663 31595663 single base substitution T C downstream_gene_variant BRCA-EU 14 31595663 31595663 single base substitution T C intron_variant BRCA-EU 14 31595663 31595663 single base substitution T C upstream_gene_variant BRCA-EU 14 31595826 31595826 insertion of <=200bp - A downstream_gene_variant BRCA-EU 14 31595826 31595826 insertion of <=200bp - A intron_variant BRCA-EU 14 31595826 31595826 insertion of <=200bp - A upstream_gene_variant BRCA-EU 14 31596835 31596835 single base substitution T C downstream_gene_variant BRCA-EU 14 31596835 31596835 single base substitution T C exon_variant BRCA-EU 14 31596835 31596835 single base substitution T C intron_variant BRCA-EU 14 31596835 31596835 single base substitution T C upstream_gene_variant BRCA-EU 14 31597252 31597252 single base substitution G C intron_variant BRCA-EU 14 31597252 31597252 single base substitution G C upstream_gene_variant BRCA-EU 14 31597496 31597496 single base substitution C G intron_variant BRCA-EU 14 31597496 31597496 single base substitution C G upstream_gene_variant BRCA-EU 14 31597840 31597840 single base substitution C G exon_variant BRCA-EU 14 31597840 31597840 single base substitution C G intron_variant BRCA-EU 14 31597840 31597840 single base substitution C G synonymous_variant G1006G 3018G>C BRCA-EU 14 31597840 31597840 single base substitution C G synonymous_variant G1579G 4737G>C BRCA-EU 14 31597840 31597840 single base substitution C G upstream_gene_variant BRCA-EU 14 31598021 31598021 single base substitution C T intron_variant BRCA-EU 14 31598021 31598021 single base substitution C T missense_variant S1519N 4556G>A BRCA-EU 14 31598021 31598021 single base substitution C T missense_variant S946N 2837G>A BRCA-EU 14 31598021 31598021 single base substitution C T upstream_gene_variant BRCA-EU 14 31602449 31602449 single base substitution T A downstream_gene_variant BRCA-EU 14 31602449 31602449 single base substitution T A missense_variant H1306L 3917A>T BRCA-EU 14 31602449 31602449 single base substitution T A missense_variant H136L 407A>T BRCA-EU 14 31602449 31602449 single base substitution T A missense_variant H780L 2339A>T BRCA-EU 14 31602449 31602449 single base substitution T A upstream_gene_variant BRCA-EU 14 31602936 31602936 deletion of <=200bp T - downstream_gene_variant BRCA-EU 14 31602936 31602936 deletion of <=200bp T - intron_variant BRCA-EU 14 31605388 31605388 single base substitution T A intron_variant BRCA-EU 14 31605388 31605388 single base substitution T A upstream_gene_variant BRCA-EU 14 31605715 31605715 single base substitution C T intron_variant BRCA-EU 14 31605715 31605715 single base substitution C T upstream_gene_variant BRCA-EU 14 31606569 31606569 single base substitution C T intron_variant BRCA-EU 14 31606569 31606569 single base substitution C T upstream_gene_variant BRCA-EU 14 31606700 31606700 single base substitution G C intron_variant BRCA-EU 14 31606700 31606700 single base substitution G C upstream_gene_variant BRCA-EU 14 31606709 31606709 single base substitution G C intron_variant BRCA-EU 14 31606709 31606709 single base substitution G C upstream_gene_variant BRCA-EU 14 31607155 31607155 single base substitution C G intron_variant BRCA-EU 14 31607155 31607155 single base substitution C G upstream_gene_variant BRCA-EU 14 31607202 31607202 single base substitution A G intron_variant BRCA-EU 14 31607202 31607202 single base substitution A G upstream_gene_variant BRCA-EU 14 31608089 31608103 deletion of <=200bp TTGCTAGGAAACACT - intron_variant BRCA-EU 14 31608089 31608103 deletion of <=200bp TTGCTAGGAAACACT - upstream_gene_variant BRCA-EU 14 31608922 31608922 single base substitution C A downstream_gene_variant BRCA-EU 14 31608922 31608922 single base substitution C A intron_variant BRCA-EU 14 31608922 31608922 single base substitution C A upstream_gene_variant BRCA-EU 14 31610530 31610530 deletion of <=200bp A - downstream_gene_variant BRCA-EU 14 31610530 31610530 deletion of <=200bp A - intron_variant BRCA-EU 14 31610530 31610530 deletion of <=200bp A - upstream_gene_variant BRCA-EU 14 31612556 31612556 single base substitution G A downstream_gene_variant BRCA-EU 14 31612556 31612556 single base substitution G A intron_variant BRCA-EU 14 31614480 31614480 single base substitution T C intron_variant BRCA-EU 14 31616239 31616239 single base substitution C T intron_variant BRCA-EU 14 31616975 31616975 single base substitution C T intron_variant BRCA-EU 14 31616998 31616998 single base substitution A T intron_variant BRCA-EU 14 31617733 31617733 single base substitution G C intron_variant BRCA-EU 14 31618013 31618013 deletion of <=200bp A - intron_variant BRCA-EU 14 31619745 31619745 single base substitution A G intron_variant BRCA-EU 14 31620914 31620914 single base substitution A T intron_variant BRCA-EU 14 31624964 31624964 single base substitution G A intron_variant BRCA-EU 14 31627771 31627771 single base substitution A T intron_variant BRCA-EU 14 31628310 31628310 single base substitution T A intron_variant BRCA-EU 14 31628344 31628344 single base substitution A G intron_variant BRCA-EU 14 31629048 31629048 single base substitution G A intron_variant BRCA-EU 14 31630698 31630698 single base substitution T C intron_variant BRCA-EU 14 31631088 31631088 single base substitution G C intron_variant BRCA-EU 14 31631145 31631145 deletion of <=200bp T - intron_variant BRCA-EU 14 31632438 31632438 single base substitution G C intron_variant BRCA-EU 14 31632814 31632814 insertion of <=200bp - T intron_variant BRCA-EU 14 31633020 31633020 single base substitution G C intron_variant BRCA-EU 14 31634499 31634499 single base substitution C T intron_variant BRCA-EU 14 31635304 31635304 single base substitution G A intron_variant BRCA-EU 14 31635317 31635317 single base substitution G A intron_variant BRCA-EU 14 31636171 31636171 single base substitution G C intron_variant BRCA-EU 14 31636770 31636770 single base substitution G A intron_variant BRCA-EU 14 31636862 31636862 single base substitution G C intron_variant BRCA-EU 14 31638015 31638015 single base substitution G A downstream_gene_variant BRCA-EU 14 31638015 31638015 single base substitution G A intron_variant BRCA-EU 14 31638015 31638015 single base substitution G A upstream_gene_variant BRCA-EU 14 31638265 31638265 insertion of <=200bp - T downstream_gene_variant BRCA-EU 14 31638265 31638265 insertion of <=200bp - T intron_variant BRCA-EU 14 31638265 31638265 insertion of <=200bp - T upstream_gene_variant BRCA-EU 14 31640892 31640892 single base substitution T A downstream_gene_variant BRCA-EU 14 31640892 31640892 single base substitution T A intron_variant BRCA-EU 14 31640892 31640892 single base substitution T A upstream_gene_variant BRCA-EU 14 31641339 31641339 single base substitution G A downstream_gene_variant BRCA-EU 14 31641339 31641339 single base substitution G A intron_variant BRCA-EU 14 31641339 31641339 single base substitution G A upstream_gene_variant BRCA-EU 14 31641623 31641623 single base substitution G A downstream_gene_variant BRCA-EU 14 31641623 31641623 single base substitution G A intron_variant BRCA-EU 14 31641623 31641623 single base substitution G A upstream_gene_variant BRCA-EU 14 31641716 31641716 single base substitution C T downstream_gene_variant BRCA-EU 14 31641716 31641716 single base substitution C T intron_variant BRCA-EU 14 31641716 31641716 single base substitution C T upstream_gene_variant BRCA-EU 14 31642651 31642651 single base substitution G A downstream_gene_variant BRCA-EU 14 31642651 31642651 single base substitution G A intron_variant BRCA-EU 14 31643950 31643950 deletion of <=200bp A - downstream_gene_variant BRCA-EU 14 31643950 31643950 deletion of <=200bp A - intron_variant BRCA-EU 14 31645943 31645943 single base substitution A G downstream_gene_variant BRCA-EU 14 31645943 31645943 single base substitution A G intron_variant BRCA-EU 14 31645943 31645943 single base substitution A G upstream_gene_variant BRCA-EU 14 31646577 31646577 single base substitution G A downstream_gene_variant BRCA-EU 14 31646577 31646577 single base substitution G A intron_variant BRCA-EU 14 31646577 31646577 single base substitution G A upstream_gene_variant BRCA-EU 14 31646663 31646663 single base substitution C T downstream_gene_variant BRCA-EU 14 31646663 31646663 single base substitution C T intron_variant BRCA-EU 14 31646663 31646663 single base substitution C T upstream_gene_variant BRCA-EU 14 31647235 31647235 single base substitution C T downstream_gene_variant BRCA-EU 14 31647235 31647235 single base substitution C T synonymous_variant Q122Q 366G>A BRCA-EU 14 31647235 31647235 single base substitution C T upstream_gene_variant BRCA-EU 14 31647774 31647774 single base substitution G A intron_variant BRCA-EU 14 31647774 31647774 single base substitution G A upstream_gene_variant BRCA-EU 14 31649203 31649203 single base substitution G A intron_variant BRCA-EU 14 31650557 31650557 single base substitution G A intron_variant BRCA-EU 14 31651113 31651113 single base substitution T C intron_variant BRCA-EU 14 31652258 31652258 single base substitution A G intron_variant BRCA-EU 14 31652663 31652663 single base substitution T C intron_variant BRCA-EU 14 31653421 31653421 single base substitution G A intron_variant BRCA-EU 14 31653489 31653489 deletion of <=200bp A - intron_variant BRCA-EU 14 31655023 31655023 single base substitution C A intron_variant BRCA-EU 14 31655024 31655024 single base substitution C A intron_variant BRCA-EU 14 31655654 31655654 single base substitution G A intron_variant BRCA-EU 14 31657730 31657730 single base substitution G A intron_variant BRCA-EU 14 31657984 31657984 single base substitution G C intron_variant BRCA-EU 14 31659639 31659639 single base substitution G T intron_variant BRCA-EU 14 31660636 31660636 single base substitution G A intron_variant BRCA-EU 14 31660866 31660866 single base substitution C T intron_variant BRCA-EU 14 31661047 31661047 single base substitution A T intron_variant BRCA-EU 14 31661556 31661556 insertion of <=200bp - G intron_variant BRCA-EU 14 31661778 31661778 single base substitution A G intron_variant BRCA-EU 14 31664130 31664130 deletion of <=200bp A - intron_variant BRCA-EU 14 31664142 31664142 single base substitution G C intron_variant BRCA-EU 14 31664571 31664571 single base substitution G A intron_variant BRCA-EU 14 31665539 31665539 single base substitution G C intron_variant BRCA-EU 14 31668044 31668044 single base substitution G C downstream_gene_variant BRCA-EU 14 31668044 31668044 single base substitution G C intron_variant BRCA-EU 14 31669016 31669016 single base substitution G A downstream_gene_variant BRCA-EU 14 31669016 31669016 single base substitution G A intron_variant BRCA-EU 14 31669252 31669252 single base substitution C G downstream_gene_variant BRCA-EU 14 31669252 31669252 single base substitution C G intron_variant BRCA-EU 14 31672501 31672501 single base substitution T C exon_variant BRCA-EU 14 31672501 31672501 single base substitution T C intron_variant BRCA-EU 14 31672575 31672575 single base substitution T C exon_variant BRCA-EU 14 31672575 31672575 single base substitution T C intron_variant BRCA-EU 14 31673495 31673495 single base substitution T C intron_variant BRCA-EU 14 31673764 31673764 single base substitution T G intron_variant BRCA-EU 14 31674353 31674353 single base substitution G C intron_variant BRCA-EU 14 31675003 31675003 single base substitution G A missense_variant T47I 140C>T BRCA-EU 14 31675003 31675003 single base substitution G A splice_region_variant BRCA-EU 14 31675286 31675287 deletion of <=200bp AA - exon_variant BRCA-EU 14 31675286 31675287 deletion of <=200bp AA - intron_variant BRCA-EU 14 31675634 31675634 single base substitution A G intron_variant BRCA-EU 14 31675634 31675634 single base substitution A G upstream_gene_variant BRCA-EU 14 31676074 31676074 single base substitution G C intron_variant BRCA-EU 14 31676074 31676074 single base substitution G C upstream_gene_variant BRCA-EU 14 31676659 31676659 single base substitution C G 5_prime_UTR_variant BRCA-EU 14 31676659 31676659 single base substitution C G exon_variant BRCA-EU 14 31676659 31676659 single base substitution C G upstream_gene_variant BRCA-EU 14 31676975 31676975 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 14 31676975 31676975 single base substitution G A upstream_gene_variant BRCA-EU 14 31678232 31678232 single base substitution T G upstream_gene_variant BRCA-EU 14 31678642 31678642 single base substitution T C upstream_gene_variant BRCA-EU 14 31678742 31678742 single base substitution G T upstream_gene_variant BRCA-EU 14 31680578 31680578 single base substitution A C upstream_gene_variant BRCA-FR 14 31567597 31567597 single base substitution T C downstream_gene_variant BRCA-FR 14 31570947 31570947 single base substitution G A downstream_gene_variant BRCA-FR 14 31570947 31570947 single base substitution G A intron_variant BRCA-FR 14 31570947 31570947 single base substitution G A upstream_gene_variant BRCA-FR 14 31580803 31580803 single base substitution C T downstream_gene_variant BRCA-FR 14 31580803 31580803 single base substitution C T intron_variant BRCA-FR 14 31585099 31585099 single base substitution C T downstream_gene_variant BRCA-FR 14 31585099 31585099 single base substitution C T intron_variant BRCA-FR 14 31585099 31585099 single base substitution C T upstream_gene_variant BRCA-FR 14 31585138 31585138 single base substitution C T downstream_gene_variant BRCA-FR 14 31585138 31585138 single base substitution C T intron_variant BRCA-FR 14 31585138 31585138 single base substitution C T upstream_gene_variant BRCA-FR 14 31590280 31590280 single base substitution C T intron_variant BRCA-FR 14 31593618 31593618 single base substitution C A downstream_gene_variant BRCA-FR 14 31593618 31593618 single base substitution C A intron_variant BRCA-FR 14 31593618 31593618 single base substitution C A upstream_gene_variant BRCA-FR 14 31606569 31606569 single base substitution C T intron_variant BRCA-FR 14 31606569 31606569 single base substitution C T upstream_gene_variant BRCA-FR 14 31616239 31616239 single base substitution C T intron_variant BRCA-FR 14 31616552 31616552 single base substitution A T intron_variant BRCA-FR 14 31616998 31616998 single base substitution A T intron_variant BRCA-FR 14 31631088 31631088 single base substitution G C intron_variant BRCA-FR 14 31635317 31635317 single base substitution G A intron_variant BRCA-FR 14 31641623 31641623 single base substitution G A downstream_gene_variant BRCA-FR 14 31641623 31641623 single base substitution G A intron_variant BRCA-FR 14 31641623 31641623 single base substitution G A upstream_gene_variant BRCA-FR 14 31645831 31645831 single base substitution A C downstream_gene_variant BRCA-FR 14 31645831 31645831 single base substitution A C intron_variant BRCA-FR 14 31645831 31645831 single base substitution A C upstream_gene_variant BRCA-FR 14 31651222 31651222 single base substitution C T intron_variant BRCA-FR 14 31652123 31652123 single base substitution G A intron_variant BRCA-FR 14 31653421 31653421 single base substitution G A intron_variant BRCA-FR 14 31653488 31653488 single base substitution T C intron_variant BRCA-FR 14 31672300 31672300 single base substitution A C exon_variant BRCA-FR 14 31672300 31672300 single base substitution A C intron_variant BRCA-FR 14 31672575 31672575 single base substitution T C exon_variant BRCA-FR 14 31672575 31672575 single base substitution T C intron_variant BRCA-KR 14 31602757 31602757 single base substitution C G downstream_gene_variant BRCA-KR 14 31602757 31602757 single base substitution C G missense_variant E1235Q 3703G>C BRCA-KR 14 31602757 31602757 single base substitution C G missense_variant E65Q 193G>C BRCA-KR 14 31602757 31602757 single base substitution C G missense_variant E709Q 2125G>C BRCA-KR 14 31602757 31602757 single base substitution C G upstream_gene_variant BRCA-KR 14 31626073 31626073 single base substitution C T synonymous_variant E109E 327G>A BRCA-KR 14 31626073 31626073 single base substitution C T synonymous_variant E635E 1905G>A BRCA-UK 14 31564627 31564627 single base substitution T A downstream_gene_variant BRCA-UK 14 31566758 31566758 single base substitution A C downstream_gene_variant BRCA-UK 14 31573401 31573401 single base substitution C A downstream_gene_variant BRCA-UK 14 31573401 31573401 single base substitution C A intron_variant BRCA-UK 14 31573401 31573401 single base substitution C A upstream_gene_variant BRCA-UK 14 31594044 31594044 single base substitution C T downstream_gene_variant BRCA-UK 14 31594044 31594044 single base substitution C T intron_variant BRCA-UK 14 31594044 31594044 single base substitution C T upstream_gene_variant BRCA-UK 14 31613451 31613451 single base substitution C T missense_variant E356K 1066G>A BRCA-UK 14 31613451 31613451 single base substitution C T missense_variant E882K 2644G>A BRCA-UK 14 31627771 31627771 single base substitution A T intron_variant BRCA-UK 14 31638600 31638600 single base substitution T A downstream_gene_variant BRCA-UK 14 31638600 31638600 single base substitution T A missense_variant E469D 1407A>T BRCA-UK 14 31638600 31638600 single base substitution T A upstream_gene_variant BRCA-UK 14 31641137 31641137 single base substitution T G downstream_gene_variant BRCA-UK 14 31641137 31641137 single base substitution T G missense_variant D421A 1262A>C BRCA-UK 14 31641137 31641137 single base substitution T G upstream_gene_variant BRCA-UK 14 31644226 31644226 single base substitution G C downstream_gene_variant BRCA-UK 14 31644226 31644226 single base substitution G C missense_variant S165C 494C>G BRCA-UK 14 31644226 31644226 single base substitution G C upstream_gene_variant BRCA-UK 14 31650557 31650557 single base substitution G A intron_variant BRCA-UK 14 31664142 31664142 single base substitution G C intron_variant BRCA-US 14 31582337 31582337 single base substitution A C downstream_gene_variant BRCA-US 14 31582337 31582337 single base substitution A C exon_variant BRCA-US 14 31582337 31582337 single base substitution A C missense_variant I2041M 6123T>G BRCA-US 14 31582337 31582337 single base substitution A C missense_variant I406M 1218T>G BRCA-US 14 31582337 31582337 single base substitution A C upstream_gene_variant BRCA-US 14 31582339 31582339 deletion of <=200bp T - downstream_gene_variant BRCA-US 14 31582339 31582339 deletion of <=200bp T - exon_variant BRCA-US 14 31582339 31582339 deletion of <=200bp T - frameshift_variant I2041 BRCA-US 14 31582339 31582339 deletion of <=200bp T - frameshift_variant I406 BRCA-US 14 31582339 31582339 deletion of <=200bp T - upstream_gene_variant BRCA-US 14 31585633 31585633 single base substitution G A downstream_gene_variant BRCA-US 14 31585633 31585633 single base substitution G A exon_variant BRCA-US 14 31585633 31585633 single base substitution G A synonymous_variant V1236V 3708C>T BRCA-US 14 31585633 31585633 single base substitution G A synonymous_variant V174V 522C>T BRCA-US 14 31585633 31585633 single base substitution G A synonymous_variant V1809V 5427C>T BRCA-US 14 31585633 31585633 single base substitution G A upstream_gene_variant BRCA-US 14 31597881 31597881 single base substitution G C exon_variant BRCA-US 14 31597881 31597881 single base substitution G C intron_variant BRCA-US 14 31597881 31597881 single base substitution G C missense_variant L1566V 4696C>G BRCA-US 14 31597881 31597881 single base substitution G C missense_variant L993V 2977C>G BRCA-US 14 31597881 31597881 single base substitution G C upstream_gene_variant BRCA-US 14 31598166 31598166 single base substitution G A intron_variant BRCA-US 14 31598166 31598166 single base substitution G A missense_variant R1471C 4411C>T BRCA-US 14 31598166 31598166 single base substitution G A missense_variant R898C 2692C>T BRCA-US 14 31598166 31598166 single base substitution G A upstream_gene_variant BRCA-US 14 31598424 31598424 single base substitution T G intron_variant BRCA-US 14 31598424 31598424 single base substitution T G missense_variant S1385R 4153A>C BRCA-US 14 31598424 31598424 single base substitution T G missense_variant S812R 2434A>C BRCA-US 14 31598424 31598424 single base substitution T G upstream_gene_variant BRCA-US 14 31604763 31604763 single base substitution C T exon_variant BRCA-US 14 31604763 31604763 single base substitution C T missense_variant R1058K 3173G>A BRCA-US 14 31604763 31604763 single base substitution C T missense_variant R532K 1595G>A BRCA-US 14 31604763 31604763 single base substitution C T upstream_gene_variant BRCA-US 14 31605749 31605749 single base substitution G C exon_variant BRCA-US 14 31605749 31605749 single base substitution G C stop_gained Y1034* 3102C>G BRCA-US 14 31605749 31605749 single base substitution G C stop_gained Y508* 1524C>G BRCA-US 14 31605749 31605749 single base substitution G C upstream_gene_variant BRCA-US 14 31605846 31605846 single base substitution C T exon_variant BRCA-US 14 31605846 31605846 single base substitution C T missense_variant R1002Q 3005G>A BRCA-US 14 31605846 31605846 single base substitution C T missense_variant R476Q 1427G>A BRCA-US 14 31605846 31605846 single base substitution C T upstream_gene_variant BRCA-US 14 31614023 31614023 single base substitution G T missense_variant T348K 1043C>A BRCA-US 14 31614023 31614023 single base substitution G T missense_variant T874K 2621C>A BRCA-US 14 31642457 31642457 single base substitution C T downstream_gene_variant BRCA-US 14 31642457 31642457 single base substitution C T exon_variant BRCA-US 14 31642457 31642457 single base substitution C T missense_variant R354K 1061G>A BRCA-US 14 31642457 31642457 single base substitution C T upstream_gene_variant BRCA-US 14 31642857 31642857 single base substitution T G downstream_gene_variant BRCA-US 14 31642857 31642857 single base substitution T G exon_variant BRCA-US 14 31642857 31642857 single base substitution T G synonymous_variant A253A 759A>C BRCA-US 14 31675003 31675003 single base substitution G C missense_variant T47R 140C>G BRCA-US 14 31675003 31675003 single base substitution G C splice_region_variant BTCA-JP 14 31575374 31575374 deletion of <=200bp A - downstream_gene_variant BTCA-JP 14 31575374 31575374 deletion of <=200bp A - intron_variant BTCA-JP 14 31575374 31575374 deletion of <=200bp A - upstream_gene_variant BTCA-JP 14 31582455 31582455 single base substitution T C downstream_gene_variant BTCA-JP 14 31582455 31582455 single base substitution T C intron_variant BTCA-JP 14 31582455 31582455 single base substitution T C upstream_gene_variant BTCA-JP 14 31590569 31590569 single base substitution G A intron_variant BTCA-JP 14 31592834 31592834 deletion of <=200bp A - downstream_gene_variant BTCA-JP 14 31592834 31592834 deletion of <=200bp A - exon_variant BTCA-JP 14 31592834 31592834 deletion of <=200bp A - intron_variant BTCA-JP 14 31592834 31592834 deletion of <=200bp A - splice_region_variant BTCA-JP 14 31592834 31592834 deletion of <=200bp A - upstream_gene_variant BTCA-JP 14 31602611 31602611 single base substitution G A downstream_gene_variant BTCA-JP 14 31602611 31602611 single base substitution G A missense_variant A1252V 3755C>T BTCA-JP 14 31602611 31602611 single base substitution G A missense_variant A726V 2177C>T BTCA-JP 14 31602611 31602611 single base substitution G A missense_variant A82V 245C>T BTCA-JP 14 31602611 31602611 single base substitution G A upstream_gene_variant BTCA-JP 14 31604419 31604419 single base substitution A C downstream_gene_variant BTCA-JP 14 31604419 31604419 single base substitution A C intron_variant BTCA-JP 14 31604419 31604419 single base substitution A C upstream_gene_variant BTCA-JP 14 31614060 31614060 single base substitution T C missense_variant I336V 1006A>G BTCA-JP 14 31614060 31614060 single base substitution T C missense_variant I862V 2584A>G BTCA-JP 14 31637557 31637557 single base substitution C T downstream_gene_variant BTCA-JP 14 31637557 31637557 single base substitution C T synonymous_variant R523R 1569G>A BTCA-JP 14 31637557 31637557 single base substitution C T upstream_gene_variant BTCA-JP 14 31641158 31641158 single base substitution A C downstream_gene_variant BTCA-JP 14 31641158 31641158 single base substitution A C missense_variant F414C 1241T>G BTCA-JP 14 31641158 31641158 single base substitution A C upstream_gene_variant BTCA-JP 14 31675151 31675151 deletion of <=200bp A - 5_prime_UTR_variant BTCA-JP 14 31675151 31675151 deletion of <=200bp A - exon_variant CESC-US 14 31578721 31578721 single base substitution C T downstream_gene_variant CESC-US 14 31578721 31578721 single base substitution C T exon_variant CESC-US 14 31578721 31578721 single base substitution C T missense_variant G2121E 6362G>A CESC-US 14 31578721 31578721 single base substitution C T missense_variant G486E 1457G>A CESC-US 14 31578721 31578721 single base substitution C T upstream_gene_variant CESC-US 14 31597175 31597175 single base substitution C A exon_variant CESC-US 14 31597175 31597175 single base substitution C A missense_variant L1026F 3078G>T CESC-US 14 31597175 31597175 single base substitution C A missense_variant L150F 450G>T CESC-US 14 31597175 31597175 single base substitution C A missense_variant L1599F 4797G>T CESC-US 14 31597175 31597175 single base substitution C A upstream_gene_variant CESC-US 14 31598191 31598191 single base substitution C T intron_variant CESC-US 14 31598191 31598191 single base substitution C T synonymous_variant R1462R 4386G>A CESC-US 14 31598191 31598191 single base substitution C T synonymous_variant R889R 2667G>A CESC-US 14 31598191 31598191 single base substitution C T upstream_gene_variant CESC-US 14 31611083 31611083 single base substitution C T downstream_gene_variant CESC-US 14 31611083 31611083 single base substitution C T missense_variant E426K 1276G>A CESC-US 14 31611083 31611083 single base substitution C T missense_variant E952K 2854G>A CESC-US 14 31641296 31641296 single base substitution G C downstream_gene_variant CESC-US 14 31641296 31641296 single base substitution G C missense_variant Q397E 1189C>G CESC-US 14 31641296 31641296 single base substitution G C upstream_gene_variant CESC-US 14 31644182 31644182 single base substitution G C downstream_gene_variant CESC-US 14 31644182 31644182 single base substitution G C missense_variant Q180E 538C>G CESC-US 14 31644182 31644182 single base substitution G C upstream_gene_variant CESC-US 14 31644208 31644208 single base substitution G A downstream_gene_variant CESC-US 14 31644208 31644208 single base substitution G A missense_variant S171L 512C>T CESC-US 14 31644208 31644208 single base substitution G A upstream_gene_variant CLLE-ES 14 31569500 31569500 single base substitution T C 3_prime_UTR_variant CLLE-ES 14 31569500 31569500 single base substitution T C downstream_gene_variant CLLE-ES 14 31569500 31569500 single base substitution T C exon_variant CLLE-ES 14 31601071 31601071 single base substitution A G downstream_gene_variant CLLE-ES 14 31601071 31601071 single base substitution A G intron_variant CLLE-ES 14 31601071 31601071 single base substitution A G upstream_gene_variant CLLE-ES 14 31621999 31621999 single base substitution C G intron_variant CLLE-ES 14 31624422 31624422 single base substitution G A intron_variant CLLE-ES 14 31628006 31628006 single base substitution C T intron_variant CLLE-ES 14 31642063 31642063 single base substitution A G downstream_gene_variant CLLE-ES 14 31642063 31642063 single base substitution A G intron_variant CLLE-ES 14 31642063 31642063 single base substitution A G upstream_gene_variant CLLE-ES 14 31654291 31654291 single base substitution G A intron_variant CLLE-ES 14 31655839 31655839 single base substitution A G intron_variant CLLE-ES 14 31659048 31659048 single base substitution A T intron_variant CLLE-ES 14 31681379 31681379 single base substitution T A upstream_gene_variant COAD-US 14 31576777 31576777 single base substitution C T downstream_gene_variant COAD-US 14 31576777 31576777 single base substitution C T exon_variant COAD-US 14 31576777 31576777 single base substitution C T missense_variant R2205H 6614G>A COAD-US 14 31576777 31576777 single base substitution C T missense_variant R570H 1709G>A COAD-US 14 31576777 31576777 single base substitution C T upstream_gene_variant COAD-US 14 31578762 31578762 single base substitution C T downstream_gene_variant COAD-US 14 31578762 31578762 single base substitution C T exon_variant COAD-US 14 31578762 31578762 single base substitution C T synonymous_variant E2107E 6321G>A COAD-US 14 31578762 31578762 single base substitution C T synonymous_variant E472E 1416G>A COAD-US 14 31578762 31578762 single base substitution C T upstream_gene_variant COAD-US 14 31582526 31582526 single base substitution T C downstream_gene_variant COAD-US 14 31582526 31582526 single base substitution T C exon_variant COAD-US 14 31582526 31582526 single base substitution T C synonymous_variant L1434L 4302A>G COAD-US 14 31582526 31582526 single base substitution T C synonymous_variant L2007L 6021A>G COAD-US 14 31582526 31582526 single base substitution T C synonymous_variant L372L 1116A>G COAD-US 14 31582526 31582526 single base substitution T C upstream_gene_variant COAD-US 14 31582648 31582648 single base substitution C T downstream_gene_variant COAD-US 14 31582648 31582648 single base substitution C T exon_variant COAD-US 14 31582648 31582648 single base substitution C T missense_variant A1394T 4180G>A COAD-US 14 31582648 31582648 single base substitution C T missense_variant A1967T 5899G>A COAD-US 14 31582648 31582648 single base substitution C T missense_variant A332T 994G>A COAD-US 14 31582648 31582648 single base substitution C T upstream_gene_variant COAD-US 14 31590658 31590658 single base substitution C T 3_prime_UTR_variant COAD-US 14 31590658 31590658 single base substitution C T exon_variant COAD-US 14 31590658 31590658 single base substitution C T synonymous_variant T1150T 3450G>A COAD-US 14 31590658 31590658 single base substitution C T synonymous_variant T1723T 5169G>A COAD-US 14 31590658 31590658 single base substitution C T synonymous_variant T88T 264G>A COAD-US 14 31597028 31597028 single base substitution C A downstream_gene_variant COAD-US 14 31597028 31597028 single base substitution C A exon_variant COAD-US 14 31597028 31597028 single base substitution C A missense_variant E1075D 3225G>T COAD-US 14 31597028 31597028 single base substitution C A missense_variant E15D 45G>T COAD-US 14 31597028 31597028 single base substitution C A missense_variant E1648D 4944G>T COAD-US 14 31597028 31597028 single base substitution C A upstream_gene_variant COAD-US 14 31598183 31598183 single base substitution C T intron_variant COAD-US 14 31598183 31598183 single base substitution C T missense_variant G1465D 4394G>A COAD-US 14 31598183 31598183 single base substitution C T missense_variant G892D 2675G>A COAD-US 14 31598183 31598183 single base substitution C T upstream_gene_variant COAD-US 14 31602566 31602566 single base substitution C T downstream_gene_variant COAD-US 14 31602566 31602566 single base substitution C T missense_variant R1267H 3800G>A COAD-US 14 31602566 31602566 single base substitution C T missense_variant R741H 2222G>A COAD-US 14 31602566 31602566 single base substitution C T missense_variant R97H 290G>A COAD-US 14 31602566 31602566 single base substitution C T upstream_gene_variant COAD-US 14 31602802 31602802 single base substitution T C downstream_gene_variant COAD-US 14 31602802 31602802 single base substitution T C missense_variant K1220E 3658A>G COAD-US 14 31602802 31602802 single base substitution T C missense_variant K50E 148A>G COAD-US 14 31602802 31602802 single base substitution T C missense_variant K694E 2080A>G COAD-US 14 31602802 31602802 single base substitution T C upstream_gene_variant COAD-US 14 31619347 31619347 insertion of <=200bp - C frameshift_variant G145G? COAD-US 14 31619347 31619347 insertion of <=200bp - C frameshift_variant G671G? COAD-US 14 31619392 31619392 single base substitution T C synonymous_variant Q130Q 390A>G COAD-US 14 31619392 31619392 single base substitution T C synonymous_variant Q656Q 1968A>G COAD-US 14 31647241 31647241 single base substitution G A downstream_gene_variant COAD-US 14 31647241 31647241 single base substitution G A synonymous_variant A120A 360C>T COAD-US 14 31647241 31647241 single base substitution G A upstream_gene_variant COCA-CN 14 31576866 31576866 single base substitution T G downstream_gene_variant COCA-CN 14 31576866 31576866 single base substitution T G exon_variant COCA-CN 14 31576866 31576866 single base substitution T G missense_variant L2175F 6525A>C COCA-CN 14 31576866 31576866 single base substitution T G missense_variant L540F 1620A>C COCA-CN 14 31576866 31576866 single base substitution T G upstream_gene_variant COCA-CN 14 31578608 31578608 single base substitution G T downstream_gene_variant COCA-CN 14 31578608 31578608 single base substitution G T exon_variant COCA-CN 14 31578608 31578608 single base substitution G T missense_variant L2159I 6475C>A COCA-CN 14 31578608 31578608 single base substitution G T missense_variant L524I 1570C>A COCA-CN 14 31578608 31578608 single base substitution G T upstream_gene_variant COCA-CN 14 31578762 31578762 single base substitution C T downstream_gene_variant COCA-CN 14 31578762 31578762 single base substitution C T exon_variant COCA-CN 14 31578762 31578762 single base substitution C T synonymous_variant E2107E 6321G>A COCA-CN 14 31578762 31578762 single base substitution C T synonymous_variant E472E 1416G>A COCA-CN 14 31578762 31578762 single base substitution C T upstream_gene_variant COCA-CN 14 31581528 31581528 single base substitution C A downstream_gene_variant COCA-CN 14 31581528 31581528 single base substitution C A intron_variant COCA-CN 14 31582414 31582414 single base substitution A C downstream_gene_variant COCA-CN 14 31582414 31582414 single base substitution A C intron_variant COCA-CN 14 31582414 31582414 single base substitution A C upstream_gene_variant COCA-CN 14 31582534 31582534 single base substitution G A downstream_gene_variant COCA-CN 14 31582534 31582534 single base substitution G A exon_variant COCA-CN 14 31582534 31582534 single base substitution G A missense_variant R1432C 4294C>T COCA-CN 14 31582534 31582534 single base substitution G A missense_variant R2005C 6013C>T COCA-CN 14 31582534 31582534 single base substitution G A missense_variant R370C 1108C>T COCA-CN 14 31582534 31582534 single base substitution G A upstream_gene_variant COCA-CN 14 31583276 31583276 single base substitution A G downstream_gene_variant COCA-CN 14 31583276 31583276 single base substitution A G exon_variant COCA-CN 14 31583276 31583276 single base substitution A G intron_variant COCA-CN 14 31583276 31583276 single base substitution A G upstream_gene_variant COCA-CN 14 31585632 31585632 single base substitution C T downstream_gene_variant COCA-CN 14 31585632 31585632 single base substitution C T exon_variant COCA-CN 14 31585632 31585632 single base substitution C T missense_variant E1237K 3709G>A COCA-CN 14 31585632 31585632 single base substitution C T missense_variant E175K 523G>A COCA-CN 14 31585632 31585632 single base substitution C T missense_variant E1810K 5428G>A COCA-CN 14 31585632 31585632 single base substitution C T upstream_gene_variant COCA-CN 14 31592151 31592151 single base substitution T C 3_prime_UTR_variant COCA-CN 14 31592151 31592151 single base substitution T C downstream_gene_variant COCA-CN 14 31592151 31592151 single base substitution T C exon_variant COCA-CN 14 31592151 31592151 single base substitution T C missense_variant N1122S 3365A>G COCA-CN 14 31592151 31592151 single base substitution T C missense_variant N1695S 5084A>G COCA-CN 14 31592151 31592151 single base substitution T C missense_variant N62S 185A>G COCA-CN 14 31592151 31592151 single base substitution T C upstream_gene_variant COCA-CN 14 31592235 31592235 single base substitution C T 3_prime_UTR_variant COCA-CN 14 31592235 31592235 single base substitution C T downstream_gene_variant COCA-CN 14 31592235 31592235 single base substitution C T exon_variant COCA-CN 14 31592235 31592235 single base substitution C T missense_variant R1094H 3281G>A COCA-CN 14 31592235 31592235 single base substitution C T missense_variant R1667H 5000G>A COCA-CN 14 31592235 31592235 single base substitution C T missense_variant R34H 101G>A COCA-CN 14 31592235 31592235 single base substitution C T upstream_gene_variant COCA-CN 14 31597954 31597954 single base substitution T G intron_variant COCA-CN 14 31597954 31597954 single base substitution T G missense_variant E1541D 4623A>C COCA-CN 14 31597954 31597954 single base substitution T G missense_variant E968D 2904A>C COCA-CN 14 31597954 31597954 single base substitution T G upstream_gene_variant COCA-CN 14 31598357 31598357 single base substitution C A intron_variant COCA-CN 14 31598357 31598357 single base substitution C A missense_variant R1407I 4220G>T COCA-CN 14 31598357 31598357 single base substitution C A missense_variant R834I 2501G>T COCA-CN 14 31598357 31598357 single base substitution C A upstream_gene_variant COCA-CN 14 31602559 31602559 single base substitution C A downstream_gene_variant COCA-CN 14 31602559 31602559 single base substitution C A missense_variant Q1269H 3807G>T COCA-CN 14 31602559 31602559 single base substitution C A missense_variant Q743H 2229G>T COCA-CN 14 31602559 31602559 single base substitution C A missense_variant Q99H 297G>T COCA-CN 14 31602559 31602559 single base substitution C A upstream_gene_variant COCA-CN 14 31602702 31602702 single base substitution A G downstream_gene_variant COCA-CN 14 31602702 31602702 single base substitution A G intron_variant COCA-CN 14 31602702 31602702 single base substitution A G upstream_gene_variant COCA-CN 14 31604530 31604530 single base substitution A C downstream_gene_variant COCA-CN 14 31604530 31604530 single base substitution A C intron_variant COCA-CN 14 31604530 31604530 single base substitution A C upstream_gene_variant COCA-CN 14 31604773 31604773 single base substitution G A exon_variant COCA-CN 14 31604773 31604773 single base substitution G A stop_gained R1055* 3163C>T COCA-CN 14 31604773 31604773 single base substitution G A stop_gained R529* 1585C>T COCA-CN 14 31604773 31604773 single base substitution G A upstream_gene_variant COCA-CN 14 31610964 31610964 single base substitution C A downstream_gene_variant COCA-CN 14 31610964 31610964 single base substitution C A intron_variant COCA-CN 14 31610964 31610964 single base substitution C A upstream_gene_variant COCA-CN 14 31614120 31614120 single base substitution C T missense_variant D316N 946G>A COCA-CN 14 31614120 31614120 single base substitution C T missense_variant D842N 2524G>A COCA-CN 14 31617880 31617880 single base substitution A C intron_variant COCA-CN 14 31618223 31618223 single base substitution C A stop_gained E241* 721G>T COCA-CN 14 31618223 31618223 single base substitution C A stop_gained E767* 2299G>T COCA-CN 14 31625995 31625995 single base substitution A C intron_variant COCA-CN 14 31626019 31626019 single base substitution G T intron_variant COCA-CN 14 31626026 31626026 single base substitution C T intron_variant COCA-CN 14 31626311 31626311 single base substitution T G intron_variant COCA-CN 14 31644084 31644084 single base substitution A G downstream_gene_variant COCA-CN 14 31644084 31644084 single base substitution A G intron_variant COCA-CN 14 31644097 31644097 single base substitution T C downstream_gene_variant COCA-CN 14 31644097 31644097 single base substitution T C intron_variant COCA-CN 14 31644338 31644338 single base substitution C A downstream_gene_variant COCA-CN 14 31644338 31644338 single base substitution C A stop_gained E128* 382G>T COCA-CN 14 31644338 31644338 single base substitution C A upstream_gene_variant COCA-CN 14 31647343 31647343 single base substitution C T exon_variant COCA-CN 14 31647343 31647343 single base substitution C T synonymous_variant A86A 258G>A COCA-CN 14 31647343 31647343 single base substitution C T upstream_gene_variant COCA-CN 14 31647450 31647450 single base substitution G A exon_variant COCA-CN 14 31647450 31647450 single base substitution G A missense_variant R51C 151C>T COCA-CN 14 31647450 31647450 single base substitution G A upstream_gene_variant EOPC-DE 14 31666420 31666420 single base substitution A G intron_variant ESAD-UK 14 31564426 31564426 single base substitution C G downstream_gene_variant ESAD-UK 14 31566448 31566448 single base substitution C A downstream_gene_variant ESAD-UK 14 31566450 31566450 single base substitution A C downstream_gene_variant ESAD-UK 14 31567208 31567208 deletion of <=200bp T - downstream_gene_variant ESAD-UK 14 31567702 31567702 single base substitution C T downstream_gene_variant ESAD-UK 14 31567965 31567965 single base substitution T G downstream_gene_variant ESAD-UK 14 31568605 31568605 single base substitution C G downstream_gene_variant ESAD-UK 14 31573963 31573963 single base substitution C T downstream_gene_variant ESAD-UK 14 31573963 31573963 single base substitution C T intron_variant ESAD-UK 14 31573963 31573963 single base substitution C T upstream_gene_variant ESAD-UK 14 31577682 31577682 single base substitution A G downstream_gene_variant ESAD-UK 14 31577682 31577682 single base substitution A G intron_variant ESAD-UK 14 31577682 31577682 single base substitution A G upstream_gene_variant ESAD-UK 14 31578668 31578668 single base substitution C T downstream_gene_variant ESAD-UK 14 31578668 31578668 single base substitution C T exon_variant ESAD-UK 14 31578668 31578668 single base substitution C T missense_variant E2139K 6415G>A ESAD-UK 14 31578668 31578668 single base substitution C T missense_variant E504K 1510G>A ESAD-UK 14 31578668 31578668 single base substitution C T upstream_gene_variant ESAD-UK 14 31579824 31579824 single base substitution G C downstream_gene_variant ESAD-UK 14 31579824 31579824 single base substitution G C intron_variant ESAD-UK 14 31579824 31579824 single base substitution G C upstream_gene_variant ESAD-UK 14 31580011 31580011 insertion of <=200bp - T downstream_gene_variant ESAD-UK 14 31580011 31580011 insertion of <=200bp - T intron_variant ESAD-UK 14 31580976 31580976 single base substitution T C downstream_gene_variant ESAD-UK 14 31580976 31580976 single base substitution T C intron_variant ESAD-UK 14 31587027 31587027 single base substitution A C downstream_gene_variant ESAD-UK 14 31587027 31587027 single base substitution A C intron_variant ESAD-UK 14 31587027 31587027 single base substitution A C upstream_gene_variant ESAD-UK 14 31587082 31587082 single base substitution T G downstream_gene_variant ESAD-UK 14 31587082 31587082 single base substitution T G intron_variant ESAD-UK 14 31587082 31587082 single base substitution T G upstream_gene_variant ESAD-UK 14 31589484 31589484 single base substitution G T intron_variant ESAD-UK 14 31591361 31591361 insertion of <=200bp - GT intron_variant ESAD-UK 14 31591361 31591361 insertion of <=200bp - GT upstream_gene_variant ESAD-UK 14 31591578 31591578 single base substitution T C intron_variant ESAD-UK 14 31591578 31591578 single base substitution T C upstream_gene_variant ESAD-UK 14 31591977 31591977 single base substitution A G downstream_gene_variant ESAD-UK 14 31591977 31591977 single base substitution A G intron_variant ESAD-UK 14 31591977 31591977 single base substitution A G upstream_gene_variant ESAD-UK 14 31592674 31592674 single base substitution C A downstream_gene_variant ESAD-UK 14 31592674 31592674 single base substitution C A exon_variant ESAD-UK 14 31592674 31592674 single base substitution C A intron_variant ESAD-UK 14 31592674 31592674 single base substitution C A upstream_gene_variant ESAD-UK 14 31595889 31595889 single base substitution A C downstream_gene_variant ESAD-UK 14 31595889 31595889 single base substitution A C intron_variant ESAD-UK 14 31595889 31595889 single base substitution A C upstream_gene_variant ESAD-UK 14 31600825 31600825 single base substitution A C downstream_gene_variant ESAD-UK 14 31600825 31600825 single base substitution A C intron_variant ESAD-UK 14 31600825 31600825 single base substitution A C upstream_gene_variant ESAD-UK 14 31603386 31603386 single base substitution C T downstream_gene_variant ESAD-UK 14 31603386 31603386 single base substitution C T intron_variant ESAD-UK 14 31603777 31603777 single base substitution C T downstream_gene_variant ESAD-UK 14 31603777 31603777 single base substitution C T intron_variant ESAD-UK 14 31603866 31603866 single base substitution C T downstream_gene_variant ESAD-UK 14 31603866 31603866 single base substitution C T intron_variant ESAD-UK 14 31607003 31607003 single base substitution G A intron_variant ESAD-UK 14 31607003 31607003 single base substitution G A upstream_gene_variant ESAD-UK 14 31607478 31607478 single base substitution T C intron_variant ESAD-UK 14 31607478 31607478 single base substitution T C upstream_gene_variant ESAD-UK 14 31611902 31611902 single base substitution C A downstream_gene_variant ESAD-UK 14 31611902 31611902 single base substitution C A intron_variant ESAD-UK 14 31613464 31613464 single base substitution C G splice_acceptor_variant ESAD-UK 14 31616954 31616954 single base substitution C T intron_variant ESAD-UK 14 31618724 31618724 single base substitution C T intron_variant ESAD-UK 14 31620914 31620914 single base substitution A T intron_variant ESAD-UK 14 31620961 31620961 deletion of <=200bp T - intron_variant ESAD-UK 14 31622929 31622929 single base substitution G A intron_variant ESAD-UK 14 31628843 31628843 single base substitution C A intron_variant ESAD-UK 14 31629965 31629965 single base substitution C T intron_variant ESAD-UK 14 31631731 31631731 single base substitution A G intron_variant ESAD-UK 14 31632972 31632972 single base substitution C T intron_variant ESAD-UK 14 31634097 31634097 deletion of <=200bp G - intron_variant ESAD-UK 14 31635701 31635701 single base substitution G A intron_variant ESAD-UK 14 31636071 31636071 single base substitution A T intron_variant ESAD-UK 14 31639123 31639123 single base substitution G C downstream_gene_variant ESAD-UK 14 31639123 31639123 single base substitution G C intron_variant ESAD-UK 14 31639123 31639123 single base substitution G C upstream_gene_variant ESAD-UK 14 31640959 31640959 single base substitution G A downstream_gene_variant ESAD-UK 14 31640959 31640959 single base substitution G A intron_variant ESAD-UK 14 31640959 31640959 single base substitution G A upstream_gene_variant ESAD-UK 14 31643649 31643649 single base substitution G A downstream_gene_variant ESAD-UK 14 31643649 31643649 single base substitution G A intron_variant ESAD-UK 14 31644506 31644506 single base substitution C T downstream_gene_variant ESAD-UK 14 31644506 31644506 single base substitution C T intron_variant ESAD-UK 14 31644506 31644506 single base substitution C T upstream_gene_variant ESAD-UK 14 31645077 31645077 single base substitution A T downstream_gene_variant ESAD-UK 14 31645077 31645077 single base substitution A T intron_variant ESAD-UK 14 31645077 31645077 single base substitution A T upstream_gene_variant ESAD-UK 14 31646178 31646178 single base substitution C G downstream_gene_variant ESAD-UK 14 31646178 31646178 single base substitution C G intron_variant ESAD-UK 14 31646178 31646178 single base substitution C G upstream_gene_variant ESAD-UK 14 31648526 31648526 single base substitution G A intron_variant ESAD-UK 14 31648526 31648526 single base substitution G A upstream_gene_variant ESAD-UK 14 31664860 31664860 single base substitution G A intron_variant ESAD-UK 14 31668692 31668692 single base substitution T C downstream_gene_variant ESAD-UK 14 31668692 31668692 single base substitution T C intron_variant ESAD-UK 14 31675834 31675834 single base substitution T A intron_variant ESAD-UK 14 31675834 31675834 single base substitution T A upstream_gene_variant ESAD-UK 14 31677791 31677791 single base substitution G A upstream_gene_variant ESAD-UK 14 31677905 31677905 single base substitution G A upstream_gene_variant ESAD-UK 14 31677954 31677954 single base substitution T A upstream_gene_variant ESAD-UK 14 31679910 31679910 single base substitution C G upstream_gene_variant ESAD-UK 14 31680132 31680132 single base substitution G C upstream_gene_variant ESAD-UK 14 31681488 31681488 single base substitution T G upstream_gene_variant ESCA-CN 14 31578573 31578573 single base substitution T A downstream_gene_variant ESCA-CN 14 31578573 31578573 single base substitution T A exon_variant ESCA-CN 14 31578573 31578573 single base substitution T A intron_variant ESCA-CN 14 31578573 31578573 single base substitution T A upstream_gene_variant ESCA-CN 14 31597078 31597078 single base substitution G C exon_variant ESCA-CN 14 31597078 31597078 single base substitution G C missense_variant Q1059E 3175C>G ESCA-CN 14 31597078 31597078 single base substitution G C missense_variant Q1632E 4894C>G ESCA-CN 14 31597078 31597078 single base substitution G C missense_variant Q183E 547C>G ESCA-CN 14 31597078 31597078 single base substitution G C upstream_gene_variant ESCA-CN 14 31618073 31618073 deletion of <=200bp C - intron_variant GBM-US 14 31582555 31582555 deletion of <=200bp C - downstream_gene_variant GBM-US 14 31582555 31582555 deletion of <=200bp C - exon_variant GBM-US 14 31582555 31582555 deletion of <=200bp C - frameshift_variant E1425 GBM-US 14 31582555 31582555 deletion of <=200bp C - frameshift_variant E1998 GBM-US 14 31582555 31582555 deletion of <=200bp C - frameshift_variant E363 GBM-US 14 31582555 31582555 deletion of <=200bp C - upstream_gene_variant GBM-US 14 31675061 31675061 single base substitution G A exon_variant GBM-US 14 31675061 31675061 single base substitution G A missense_variant L28F 82C>T KIRC-US 14 31613394 31613394 single base substitution T G missense_variant K375Q 1123A>C KIRC-US 14 31613394 31613394 single base substitution T G missense_variant K901Q 2701A>C KIRC-US 14 31626470 31626470 single base substitution A G synonymous_variant F28F 84T>C KIRC-US 14 31626470 31626470 single base substitution A G synonymous_variant F554F 1662T>C KIRP-US 14 31576342 31576342 single base substitution G A downstream_gene_variant KIRP-US 14 31576342 31576342 single base substitution G A exon_variant KIRP-US 14 31576342 31576342 single base substitution G A missense_variant H2246Y 6736C>T KIRP-US 14 31576342 31576342 single base substitution G A missense_variant H611Y 1831C>T KIRP-US 14 31576342 31576342 single base substitution G A upstream_gene_variant KIRP-US 14 31582629 31582629 single base substitution C T downstream_gene_variant KIRP-US 14 31582629 31582629 single base substitution C T exon_variant KIRP-US 14 31582629 31582629 single base substitution C T missense_variant S1400N 4199G>A KIRP-US 14 31582629 31582629 single base substitution C T missense_variant S1973N 5918G>A KIRP-US 14 31582629 31582629 single base substitution C T missense_variant S338N 1013G>A KIRP-US 14 31582629 31582629 single base substitution C T upstream_gene_variant KIRP-US 14 31598378 31598378 single base substitution C A intron_variant KIRP-US 14 31598378 31598378 single base substitution C A missense_variant G1400V 4199G>T KIRP-US 14 31598378 31598378 single base substitution C A missense_variant G827V 2480G>T KIRP-US 14 31598378 31598378 single base substitution C A upstream_gene_variant KIRP-US 14 31604103 31604103 single base substitution C T downstream_gene_variant KIRP-US 14 31604103 31604103 single base substitution C T missense_variant D1185N 3553G>A KIRP-US 14 31604103 31604103 single base substitution C T missense_variant D15N 43G>A KIRP-US 14 31604103 31604103 single base substitution C T missense_variant D659N 1975G>A LAML-CN 14 31598508 31598508 single base substitution T C intron_variant LAML-CN 14 31598508 31598508 single base substitution T C missense_variant T1357A 4069A>G LAML-CN 14 31598508 31598508 single base substitution T C missense_variant T784A 2350A>G LAML-CN 14 31598508 31598508 single base substitution T C upstream_gene_variant LAML-KR 14 31602460 31602460 single base substitution T G downstream_gene_variant LAML-KR 14 31602460 31602460 single base substitution T G synonymous_variant T1302T 3906A>C LAML-KR 14 31602460 31602460 single base substitution T G synonymous_variant T132T 396A>C LAML-KR 14 31602460 31602460 single base substitution T G synonymous_variant T776T 2328A>C LAML-KR 14 31602460 31602460 single base substitution T G upstream_gene_variant LAML-KR 14 31646165 31646165 single base substitution T A downstream_gene_variant LAML-KR 14 31646165 31646165 single base substitution T A intron_variant LAML-KR 14 31646165 31646165 single base substitution T A upstream_gene_variant LGG-US 14 31576337 31576337 single base substitution G A downstream_gene_variant LGG-US 14 31576337 31576337 single base substitution G A exon_variant LGG-US 14 31576337 31576337 single base substitution G A synonymous_variant F2247F 6741C>T LGG-US 14 31576337 31576337 single base substitution G A synonymous_variant F612F 1836C>T LGG-US 14 31576337 31576337 single base substitution G A upstream_gene_variant LGG-US 14 31582665 31582665 single base substitution G C downstream_gene_variant LGG-US 14 31582665 31582665 single base substitution G C exon_variant LGG-US 14 31582665 31582665 single base substitution G C missense_variant S1388C 4163C>G LGG-US 14 31582665 31582665 single base substitution G C missense_variant S1961C 5882C>G LGG-US 14 31582665 31582665 single base substitution G C missense_variant S326C 977C>G LGG-US 14 31582665 31582665 single base substitution G C upstream_gene_variant LGG-US 14 31582671 31582671 single base substitution G C downstream_gene_variant LGG-US 14 31582671 31582671 single base substitution G C exon_variant LGG-US 14 31582671 31582671 single base substitution G C missense_variant T1386R 4157C>G LGG-US 14 31582671 31582671 single base substitution G C missense_variant T1959R 5876C>G LGG-US 14 31582671 31582671 single base substitution G C missense_variant T324R 971C>G LGG-US 14 31582671 31582671 single base substitution G C upstream_gene_variant LGG-US 14 31590686 31590686 single base substitution C T 3_prime_UTR_variant LGG-US 14 31590686 31590686 single base substitution C T exon_variant LGG-US 14 31590686 31590686 single base substitution C T missense_variant R1141H 3422G>A LGG-US 14 31590686 31590686 single base substitution C T missense_variant R1714H 5141G>A LGG-US 14 31590686 31590686 single base substitution C T missense_variant R79H 236G>A LICA-CN 14 31613421 31613421 single base substitution C T missense_variant A366T 1096G>A LICA-CN 14 31613421 31613421 single base substitution C T missense_variant A892T 2674G>A LICA-CN 14 31637554 31637554 single base substitution T A downstream_gene_variant LICA-CN 14 31637554 31637554 single base substitution T A missense_variant L524F 1572A>T LICA-CN 14 31637554 31637554 single base substitution T A upstream_gene_variant LICA-CN 14 31642495 31642495 single base substitution A C downstream_gene_variant LICA-CN 14 31642495 31642495 single base substitution A C exon_variant LICA-CN 14 31642495 31642495 single base substitution A C synonymous_variant S341S 1023T>G LICA-CN 14 31642495 31642495 single base substitution A C upstream_gene_variant LICA-FR 14 31594380 31594380 deletion of <=200bp T - downstream_gene_variant LICA-FR 14 31594380 31594380 deletion of <=200bp T - intron_variant LICA-FR 14 31594380 31594380 deletion of <=200bp T - upstream_gene_variant LICA-FR 14 31598248 31598248 single base substitution A C intron_variant LICA-FR 14 31598248 31598248 single base substitution A C synonymous_variant S1443S 4329T>G LICA-FR 14 31598248 31598248 single base substitution A C synonymous_variant S870S 2610T>G LICA-FR 14 31598248 31598248 single base substitution A C upstream_gene_variant LICA-FR 14 31605665 31605665 single base substitution C A intron_variant LICA-FR 14 31605665 31605665 single base substitution C A upstream_gene_variant LICA-FR 14 31605810 31605810 single base substitution T A exon_variant LICA-FR 14 31605810 31605810 single base substitution T A missense_variant D1014V 3041A>T LICA-FR 14 31605810 31605810 single base substitution T A missense_variant D488V 1463A>T LICA-FR 14 31605810 31605810 single base substitution T A upstream_gene_variant LICA-FR 14 31626501 31626501 single base substitution C T missense_variant S18N 53G>A LICA-FR 14 31626501 31626501 single base substitution C T missense_variant S544N 1631G>A LICA-FR 14 31651573 31651573 single base substitution T A intron_variant LICA-FR 14 31655465 31655465 single base substitution T C intron_variant LICA-FR 14 31670585 31670585 single base substitution T C downstream_gene_variant LICA-FR 14 31670585 31670585 single base substitution T C intron_variant LICA-FR 14 31671406 31671406 deletion of <=200bp A - downstream_gene_variant LICA-FR 14 31671406 31671406 deletion of <=200bp A - intron_variant LIHC-US 14 31597908 31597908 single base substitution G A exon_variant LIHC-US 14 31597908 31597908 single base substitution G A intron_variant LIHC-US 14 31597908 31597908 single base substitution G A missense_variant R1557W 4669C>T LIHC-US 14 31597908 31597908 single base substitution G A missense_variant R984W 2950C>T LIHC-US 14 31597908 31597908 single base substitution G A upstream_gene_variant LIHC-US 14 31626433 31626433 single base substitution C T missense_variant D41N 121G>A LIHC-US 14 31626433 31626433 single base substitution C T missense_variant D567N 1699G>A LIHC-US 14 31641123 31641123 single base substitution G A downstream_gene_variant LIHC-US 14 31641123 31641123 single base substitution G A stop_gained Q426* 1276C>T LIHC-US 14 31641123 31641123 single base substitution G A upstream_gene_variant LINC-JP 14 31571538 31571538 single base substitution T C downstream_gene_variant LINC-JP 14 31571538 31571538 single base substitution T C intron_variant LINC-JP 14 31571538 31571538 single base substitution T C upstream_gene_variant LINC-JP 14 31573796 31573796 single base substitution T C downstream_gene_variant LINC-JP 14 31573796 31573796 single base substitution T C intron_variant LINC-JP 14 31573796 31573796 single base substitution T C upstream_gene_variant LINC-JP 14 31575337 31575337 single base substitution T A downstream_gene_variant LINC-JP 14 31575337 31575337 single base substitution T A intron_variant LINC-JP 14 31575337 31575337 single base substitution T A upstream_gene_variant LINC-JP 14 31578691 31578691 single base substitution T C downstream_gene_variant LINC-JP 14 31578691 31578691 single base substitution T C exon_variant LINC-JP 14 31578691 31578691 single base substitution T C missense_variant E2131G 6392A>G LINC-JP 14 31578691 31578691 single base substitution T C missense_variant E496G 1487A>G LINC-JP 14 31578691 31578691 single base substitution T C upstream_gene_variant LINC-JP 14 31582516 31582516 single base substitution C G downstream_gene_variant LINC-JP 14 31582516 31582516 single base substitution C G exon_variant LINC-JP 14 31582516 31582516 single base substitution C G missense_variant A1438P 4312G>C LINC-JP 14 31582516 31582516 single base substitution C G missense_variant A2011P 6031G>C LINC-JP 14 31582516 31582516 single base substitution C G missense_variant A376P 1126G>C LINC-JP 14 31582516 31582516 single base substitution C G upstream_gene_variant LINC-JP 14 31589122 31589122 single base substitution T C intron_variant LINC-JP 14 31590596 31590596 single base substitution C T 3_prime_UTR_variant LINC-JP 14 31590596 31590596 single base substitution C T exon_variant LINC-JP 14 31590596 31590596 single base substitution C T missense_variant G109E 326G>A LINC-JP 14 31590596 31590596 single base substitution C T missense_variant G1171E 3512G>A LINC-JP 14 31590596 31590596 single base substitution C T missense_variant G1744E 5231G>A LINC-JP 14 31592568 31592589 deletion of <=200bp ATCAGTGAAAAACGGGGCTTAG - downstream_gene_variant LINC-JP 14 31592568 31592589 deletion of <=200bp ATCAGTGAAAAACGGGGCTTAG - exon_variant LINC-JP 14 31592568 31592589 deletion of <=200bp ATCAGTGAAAAACGGGGCTTAG - intron_variant LINC-JP 14 31592568 31592589 deletion of <=200bp ATCAGTGAAAAACGGGGCTTAG - upstream_gene_variant LINC-JP 14 31594619 31594619 single base substitution T C downstream_gene_variant LINC-JP 14 31594619 31594619 single base substitution T C intron_variant LINC-JP 14 31594619 31594619 single base substitution T C upstream_gene_variant LINC-JP 14 31596497 31596497 single base substitution T C downstream_gene_variant LINC-JP 14 31596497 31596497 single base substitution T C intron_variant LINC-JP 14 31596497 31596497 single base substitution T C upstream_gene_variant LINC-JP 14 31597489 31597489 single base substitution T C intron_variant LINC-JP 14 31597489 31597489 single base substitution T C upstream_gene_variant LINC-JP 14 31598609 31598609 single base substitution C G intron_variant LINC-JP 14 31598609 31598609 single base substitution C G missense_variant R1323P 3968G>C LINC-JP 14 31598609 31598609 single base substitution C G upstream_gene_variant LINC-JP 14 31605542 31605542 single base substitution T G intron_variant LINC-JP 14 31605542 31605542 single base substitution T G upstream_gene_variant LINC-JP 14 31605871 31605871 single base substitution T C exon_variant LINC-JP 14 31605871 31605871 single base substitution T C missense_variant I468V 1402A>G LINC-JP 14 31605871 31605871 single base substitution T C missense_variant I994V 2980A>G LINC-JP 14 31605871 31605871 single base substitution T C upstream_gene_variant LINC-JP 14 31608251 31608251 single base substitution T C intron_variant LINC-JP 14 31608251 31608251 single base substitution T C upstream_gene_variant LINC-JP 14 31608253 31608253 single base substitution T G intron_variant LINC-JP 14 31608253 31608253 single base substitution T G upstream_gene_variant LINC-JP 14 31609091 31609091 single base substitution T C downstream_gene_variant LINC-JP 14 31609091 31609091 single base substitution T C splice_region_variant LINC-JP 14 31609091 31609091 single base substitution T C upstream_gene_variant LINC-JP 14 31611183 31611183 single base substitution T C downstream_gene_variant LINC-JP 14 31611183 31611183 single base substitution T C intron_variant LINC-JP 14 31613480 31613480 single base substitution T C intron_variant LINC-JP 14 31614217 31614217 single base substitution A G intron_variant LINC-JP 14 31617632 31617632 single base substitution T C intron_variant LINC-JP 14 31630002 31630002 single base substitution G A intron_variant LINC-JP 14 31631238 31631238 single base substitution C T intron_variant LINC-JP 14 31632692 31632692 single base substitution G A intron_variant LINC-JP 14 31638688 31638688 single base substitution G T downstream_gene_variant LINC-JP 14 31638688 31638688 single base substitution G T intron_variant LINC-JP 14 31638688 31638688 single base substitution G T upstream_gene_variant LINC-JP 14 31638836 31638836 single base substitution C A downstream_gene_variant LINC-JP 14 31638836 31638836 single base substitution C A intron_variant LINC-JP 14 31638836 31638836 single base substitution C A upstream_gene_variant LINC-JP 14 31642505 31642505 single base substitution A G downstream_gene_variant LINC-JP 14 31642505 31642505 single base substitution A G exon_variant LINC-JP 14 31642505 31642505 single base substitution A G missense_variant L338S 1013T>C LINC-JP 14 31642505 31642505 single base substitution A G upstream_gene_variant LINC-JP 14 31644210 31644210 single base substitution T C downstream_gene_variant LINC-JP 14 31644210 31644210 single base substitution T C synonymous_variant V170V 510A>G LINC-JP 14 31644210 31644210 single base substitution T C upstream_gene_variant LINC-JP 14 31651993 31651993 single base substitution C T intron_variant LINC-JP 14 31653240 31653240 single base substitution T C intron_variant LINC-JP 14 31675168 31675168 single base substitution A G exon_variant LINC-JP 14 31675168 31675168 single base substitution A G splice_region_variant LINC-JP 14 31680106 31680106 single base substitution C G upstream_gene_variant LIRI-JP 14 31570041 31570041 single base substitution T C 3_prime_UTR_variant LIRI-JP 14 31570041 31570041 single base substitution T C downstream_gene_variant LIRI-JP 14 31570041 31570041 single base substitution T C exon_variant LIRI-JP 14 31571391 31571391 single base substitution T C downstream_gene_variant LIRI-JP 14 31571391 31571391 single base substitution T C intron_variant LIRI-JP 14 31571391 31571391 single base substitution T C upstream_gene_variant LIRI-JP 14 31571475 31571475 single base substitution C T downstream_gene_variant LIRI-JP 14 31571475 31571475 single base substitution C T intron_variant LIRI-JP 14 31571475 31571475 single base substitution C T upstream_gene_variant LIRI-JP 14 31572446 31572446 single base substitution A G intron_variant LIRI-JP 14 31572446 31572446 single base substitution A G upstream_gene_variant LIRI-JP 14 31572864 31572864 single base substitution A C intron_variant LIRI-JP 14 31572864 31572864 single base substitution A C upstream_gene_variant LIRI-JP 14 31573203 31573203 single base substitution C A intron_variant LIRI-JP 14 31573203 31573203 single base substitution C A upstream_gene_variant LIRI-JP 14 31574655 31574655 deletion of <=200bp A - downstream_gene_variant LIRI-JP 14 31574655 31574655 deletion of <=200bp A - exon_variant LIRI-JP 14 31574655 31574655 deletion of <=200bp A - frameshift_variant Y2445 LIRI-JP 14 31574655 31574655 deletion of <=200bp A - frameshift_variant Y810 LIRI-JP 14 31574655 31574655 deletion of <=200bp A - upstream_gene_variant LIRI-JP 14 31576601 31576601 single base substitution T C downstream_gene_variant LIRI-JP 14 31576601 31576601 single base substitution T C intron_variant LIRI-JP 14 31576601 31576601 single base substitution T C upstream_gene_variant LIRI-JP 14 31577482 31577482 single base substitution G A downstream_gene_variant LIRI-JP 14 31577482 31577482 single base substitution G A intron_variant LIRI-JP 14 31577482 31577482 single base substitution G A upstream_gene_variant LIRI-JP 14 31578697 31578697 single base substitution T A downstream_gene_variant LIRI-JP 14 31578697 31578697 single base substitution T A exon_variant LIRI-JP 14 31578697 31578697 single base substitution T A missense_variant K2129M 6386A>T LIRI-JP 14 31578697 31578697 single base substitution T A missense_variant K494M 1481A>T LIRI-JP 14 31578697 31578697 single base substitution T A upstream_gene_variant LIRI-JP 14 31579993 31579993 single base substitution G A downstream_gene_variant LIRI-JP 14 31579993 31579993 single base substitution G A intron_variant LIRI-JP 14 31581221 31581221 single base substitution A T downstream_gene_variant LIRI-JP 14 31581221 31581221 single base substitution A T intron_variant LIRI-JP 14 31581722 31581722 single base substitution G C downstream_gene_variant LIRI-JP 14 31581722 31581722 single base substitution G C exon_variant LIRI-JP 14 31581722 31581722 single base substitution G C missense_variant L2060V 6178C>G LIRI-JP 14 31581722 31581722 single base substitution G C missense_variant L425V 1273C>G LIRI-JP 14 31581722 31581722 single base substitution G C upstream_gene_variant LIRI-JP 14 31584603 31584603 single base substitution T C downstream_gene_variant LIRI-JP 14 31584603 31584603 single base substitution T C intron_variant LIRI-JP 14 31584603 31584603 single base substitution T C upstream_gene_variant LIRI-JP 14 31585207 31585207 single base substitution T C downstream_gene_variant LIRI-JP 14 31585207 31585207 single base substitution T C intron_variant LIRI-JP 14 31585207 31585207 single base substitution T C upstream_gene_variant LIRI-JP 14 31588941 31588941 single base substitution T C downstream_gene_variant LIRI-JP 14 31588941 31588941 single base substitution T C exon_variant LIRI-JP 14 31588941 31588941 single base substitution T C synonymous_variant T1217T 3651A>G LIRI-JP 14 31588941 31588941 single base substitution T C synonymous_variant T155T 465A>G LIRI-JP 14 31588941 31588941 single base substitution T C synonymous_variant T1790T 5370A>G LIRI-JP 14 31589569 31589569 single base substitution C T intron_variant LIRI-JP 14 31590978 31590978 single base substitution C A intron_variant LIRI-JP 14 31590978 31590978 single base substitution C A upstream_gene_variant LIRI-JP 14 31592008 31592008 single base substitution T C downstream_gene_variant LIRI-JP 14 31592008 31592008 single base substitution T C intron_variant LIRI-JP 14 31592008 31592008 single base substitution T C upstream_gene_variant LIRI-JP 14 31592034 31592034 single base substitution A C downstream_gene_variant LIRI-JP 14 31592034 31592034 single base substitution A C intron_variant LIRI-JP 14 31592034 31592034 single base substitution A C upstream_gene_variant LIRI-JP 14 31592716 31592716 single base substitution A C downstream_gene_variant LIRI-JP 14 31592716 31592716 single base substitution A C exon_variant LIRI-JP 14 31592716 31592716 single base substitution A C intron_variant LIRI-JP 14 31592716 31592716 single base substitution A C splice_region_variant LIRI-JP 14 31592716 31592716 single base substitution A C upstream_gene_variant LIRI-JP 14 31594258 31594258 single base substitution C A downstream_gene_variant LIRI-JP 14 31594258 31594258 single base substitution C A intron_variant LIRI-JP 14 31594258 31594258 single base substitution C A upstream_gene_variant LIRI-JP 14 31595394 31595394 single base substitution G A downstream_gene_variant LIRI-JP 14 31595394 31595394 single base substitution G A intron_variant LIRI-JP 14 31595394 31595394 single base substitution G A upstream_gene_variant LIRI-JP 14 31595782 31595782 single base substitution A T downstream_gene_variant LIRI-JP 14 31595782 31595782 single base substitution A T intron_variant LIRI-JP 14 31595782 31595782 single base substitution A T upstream_gene_variant LIRI-JP 14 31596240 31596240 single base substitution C T downstream_gene_variant LIRI-JP 14 31596240 31596240 single base substitution C T intron_variant LIRI-JP 14 31596240 31596240 single base substitution C T upstream_gene_variant LIRI-JP 14 31598246 31598246 single base substitution G C intron_variant LIRI-JP 14 31598246 31598246 single base substitution G C missense_variant S1444C 4331C>G LIRI-JP 14 31598246 31598246 single base substitution G C missense_variant S871C 2612C>G LIRI-JP 14 31598246 31598246 single base substitution G C upstream_gene_variant LIRI-JP 14 31599494 31599503 deletion of <=200bp AATAAATTTG - intron_variant LIRI-JP 14 31599494 31599503 deletion of <=200bp AATAAATTTG - upstream_gene_variant LIRI-JP 14 31599938 31599938 single base substitution T C downstream_gene_variant LIRI-JP 14 31599938 31599938 single base substitution T C intron_variant LIRI-JP 14 31599938 31599938 single base substitution T C upstream_gene_variant LIRI-JP 14 31600027 31600027 single base substitution T C downstream_gene_variant LIRI-JP 14 31600027 31600027 single base substitution T C intron_variant LIRI-JP 14 31600027 31600027 single base substitution T C upstream_gene_variant LIRI-JP 14 31600212 31600214 deletion of <=200bp CTT - downstream_gene_variant LIRI-JP 14 31600212 31600214 deletion of <=200bp CTT - intron_variant LIRI-JP 14 31600212 31600214 deletion of <=200bp CTT - upstream_gene_variant LIRI-JP 14 31600344 31600344 single base substitution T C downstream_gene_variant LIRI-JP 14 31600344 31600344 single base substitution T C intron_variant LIRI-JP 14 31600344 31600344 single base substitution T C upstream_gene_variant LIRI-JP 14 31600345 31600345 single base substitution T C downstream_gene_variant LIRI-JP 14 31600345 31600345 single base substitution T C intron_variant LIRI-JP 14 31600345 31600345 single base substitution T C upstream_gene_variant LIRI-JP 14 31601631 31601631 single base substitution G A downstream_gene_variant LIRI-JP 14 31601631 31601631 single base substitution G A intron_variant LIRI-JP 14 31601631 31601631 single base substitution G A upstream_gene_variant LIRI-JP 14 31602474 31602474 single base substitution C T downstream_gene_variant LIRI-JP 14 31602474 31602474 single base substitution C T missense_variant E128K 382G>A LIRI-JP 14 31602474 31602474 single base substitution C T missense_variant E1298K 3892G>A LIRI-JP 14 31602474 31602474 single base substitution C T missense_variant E772K 2314G>A LIRI-JP 14 31602474 31602474 single base substitution C T upstream_gene_variant LIRI-JP 14 31603099 31603099 single base substitution G T downstream_gene_variant LIRI-JP 14 31603099 31603099 single base substitution G T intron_variant LIRI-JP 14 31603777 31603777 single base substitution C T downstream_gene_variant LIRI-JP 14 31603777 31603777 single base substitution C T intron_variant LIRI-JP 14 31606908 31606908 single base substitution T G intron_variant LIRI-JP 14 31606908 31606908 single base substitution T G upstream_gene_variant LIRI-JP 14 31607923 31607923 single base substitution T C intron_variant LIRI-JP 14 31607923 31607923 single base substitution T C upstream_gene_variant LIRI-JP 14 31608467 31608467 single base substitution C T downstream_gene_variant LIRI-JP 14 31608467 31608467 single base substitution C T intron_variant LIRI-JP 14 31608467 31608467 single base substitution C T upstream_gene_variant LIRI-JP 14 31611438 31611438 single base substitution A C downstream_gene_variant LIRI-JP 14 31611438 31611438 single base substitution A C intron_variant LIRI-JP 14 31611473 31611473 single base substitution T G downstream_gene_variant LIRI-JP 14 31611473 31611473 single base substitution T G intron_variant LIRI-JP 14 31614231 31614231 single base substitution A G intron_variant LIRI-JP 14 31614303 31614303 single base substitution G C intron_variant LIRI-JP 14 31615337 31615337 single base substitution A G intron_variant LIRI-JP 14 31616014 31616014 single base substitution G T intron_variant LIRI-JP 14 31618042 31618042 single base substitution T C intron_variant LIRI-JP 14 31618752 31618752 single base substitution T C intron_variant LIRI-JP 14 31618765 31618765 single base substitution T C intron_variant LIRI-JP 14 31619944 31619944 single base substitution T C intron_variant LIRI-JP 14 31620242 31620242 single base substitution T C intron_variant LIRI-JP 14 31621569 31621569 single base substitution T A intron_variant LIRI-JP 14 31623222 31623222 single base substitution C T intron_variant LIRI-JP 14 31624868 31624868 single base substitution T G intron_variant LIRI-JP 14 31624999 31624999 single base substitution G T intron_variant LIRI-JP 14 31626274 31626274 single base substitution T C intron_variant LIRI-JP 14 31628408 31628408 single base substitution A T intron_variant LIRI-JP 14 31635238 31635238 single base substitution G C intron_variant LIRI-JP 14 31635849 31635849 single base substitution G A intron_variant LIRI-JP 14 31638023 31638023 single base substitution C A downstream_gene_variant LIRI-JP 14 31638023 31638023 single base substitution C A intron_variant LIRI-JP 14 31638023 31638023 single base substitution C A upstream_gene_variant LIRI-JP 14 31638744 31638744 single base substitution A G downstream_gene_variant LIRI-JP 14 31638744 31638744 single base substitution A G intron_variant LIRI-JP 14 31638744 31638744 single base substitution A G upstream_gene_variant LIRI-JP 14 31639148 31639148 single base substitution T C downstream_gene_variant LIRI-JP 14 31639148 31639148 single base substitution T C intron_variant LIRI-JP 14 31639148 31639148 single base substitution T C upstream_gene_variant LIRI-JP 14 31640410 31640410 single base substitution G T downstream_gene_variant LIRI-JP 14 31640410 31640410 single base substitution G T intron_variant LIRI-JP 14 31640410 31640410 single base substitution G T upstream_gene_variant LIRI-JP 14 31641547 31641547 single base substitution C G downstream_gene_variant LIRI-JP 14 31641547 31641547 single base substitution C G intron_variant LIRI-JP 14 31641547 31641547 single base substitution C G upstream_gene_variant LIRI-JP 14 31643471 31643471 single base substitution T G downstream_gene_variant LIRI-JP 14 31643471 31643471 single base substitution T G intron_variant LIRI-JP 14 31643976 31643976 single base substitution T A downstream_gene_variant LIRI-JP 14 31643976 31643976 single base substitution T A intron_variant LIRI-JP 14 31644426 31644426 single base substitution T C downstream_gene_variant LIRI-JP 14 31644426 31644426 single base substitution T C intron_variant LIRI-JP 14 31644426 31644426 single base substitution T C upstream_gene_variant LIRI-JP 14 31648099 31648099 single base substitution T G intron_variant LIRI-JP 14 31648099 31648099 single base substitution T G upstream_gene_variant LIRI-JP 14 31649246 31649246 single base substitution T C intron_variant LIRI-JP 14 31649996 31649996 single base substitution T C intron_variant LIRI-JP 14 31654543 31654543 single base substitution A G intron_variant LIRI-JP 14 31655299 31655299 single base substitution C T intron_variant LIRI-JP 14 31657256 31657256 single base substitution C A intron_variant LIRI-JP 14 31658494 31658494 single base substitution A C intron_variant LIRI-JP 14 31659358 31659358 single base substitution C A intron_variant LIRI-JP 14 31664091 31664091 single base substitution A T intron_variant LIRI-JP 14 31664623 31664623 single base substitution A C intron_variant LIRI-JP 14 31666070 31666070 single base substitution T C intron_variant LIRI-JP 14 31668075 31668075 single base substitution T C downstream_gene_variant LIRI-JP 14 31668075 31668075 single base substitution T C intron_variant LIRI-JP 14 31669467 31669467 single base substitution T C downstream_gene_variant LIRI-JP 14 31669467 31669467 single base substitution T C intron_variant LIRI-JP 14 31670258 31670258 single base substitution T A downstream_gene_variant LIRI-JP 14 31670258 31670258 single base substitution T A intron_variant LIRI-JP 14 31670604 31670604 single base substitution G C downstream_gene_variant LIRI-JP 14 31670604 31670604 single base substitution G C intron_variant LIRI-JP 14 31670840 31670840 single base substitution C T downstream_gene_variant LIRI-JP 14 31670840 31670840 single base substitution C T intron_variant LIRI-JP 14 31673667 31673667 single base substitution T C intron_variant LIRI-JP 14 31674315 31674315 single base substitution G A intron_variant LIRI-JP 14 31680964 31680964 single base substitution G T upstream_gene_variant LIRI-JP 14 31681294 31681294 single base substitution A G upstream_gene_variant LIRI-JP 14 31681400 31681400 single base substitution A G upstream_gene_variant LUSC-KR 14 31569385 31569385 single base substitution C T 3_prime_UTR_variant LUSC-KR 14 31569385 31569385 single base substitution C T downstream_gene_variant LUSC-KR 14 31569385 31569385 single base substitution C T exon_variant LUSC-KR 14 31573336 31573336 single base substitution A C downstream_gene_variant LUSC-KR 14 31573336 31573336 single base substitution A C intron_variant LUSC-KR 14 31573336 31573336 single base substitution A C upstream_gene_variant LUSC-KR 14 31590489 31590489 single base substitution C T intron_variant LUSC-KR 14 31591778 31591778 single base substitution C T downstream_gene_variant LUSC-KR 14 31591778 31591778 single base substitution C T intron_variant LUSC-KR 14 31591778 31591778 single base substitution C T upstream_gene_variant LUSC-KR 14 31601200 31601200 single base substitution G A downstream_gene_variant LUSC-KR 14 31601200 31601200 single base substitution G A intron_variant LUSC-KR 14 31601200 31601200 single base substitution G A upstream_gene_variant LUSC-KR 14 31603861 31603861 single base substitution T C downstream_gene_variant LUSC-KR 14 31603861 31603861 single base substitution T C intron_variant LUSC-KR 14 31605507 31605507 single base substitution G A intron_variant LUSC-KR 14 31605507 31605507 single base substitution G A upstream_gene_variant LUSC-KR 14 31606462 31606462 single base substitution G C intron_variant LUSC-KR 14 31606462 31606462 single base substitution G C upstream_gene_variant LUSC-KR 14 31615426 31615426 single base substitution G A intron_variant LUSC-KR 14 31616403 31616403 single base substitution C A intron_variant LUSC-KR 14 31622087 31622087 single base substitution G C intron_variant LUSC-KR 14 31624991 31624991 single base substitution C A intron_variant LUSC-KR 14 31632285 31632285 single base substitution G A intron_variant LUSC-KR 14 31637256 31637256 single base substitution C G downstream_gene_variant LUSC-KR 14 31637256 31637256 single base substitution C G intron_variant LUSC-KR 14 31638068 31638068 single base substitution G A downstream_gene_variant LUSC-KR 14 31638068 31638068 single base substitution G A intron_variant LUSC-KR 14 31638068 31638068 single base substitution G A upstream_gene_variant LUSC-KR 14 31651122 31651122 single base substitution G T intron_variant LUSC-KR 14 31656226 31656226 single base substitution C A intron_variant LUSC-KR 14 31657460 31657460 single base substitution G T intron_variant LUSC-KR 14 31659776 31659776 single base substitution C T intron_variant LUSC-KR 14 31663124 31663124 single base substitution C A intron_variant LUSC-KR 14 31665570 31665570 single base substitution C G intron_variant LUSC-KR 14 31665734 31665734 single base substitution G A intron_variant LUSC-US 14 31578712 31578712 single base substitution C A downstream_gene_variant LUSC-US 14 31578712 31578712 single base substitution C A exon_variant LUSC-US 14 31578712 31578712 single base substitution C A missense_variant R2124L 6371G>T LUSC-US 14 31578712 31578712 single base substitution C A missense_variant R489L 1466G>T LUSC-US 14 31578712 31578712 single base substitution C A upstream_gene_variant LUSC-US 14 31585550 31585550 single base substitution G C downstream_gene_variant LUSC-US 14 31585550 31585550 single base substitution G C exon_variant LUSC-US 14 31585550 31585550 single base substitution G C missense_variant T1264S 3791C>G LUSC-US 14 31585550 31585550 single base substitution G C missense_variant T1837S 5510C>G LUSC-US 14 31585550 31585550 single base substitution G C missense_variant T202S 605C>G LUSC-US 14 31585550 31585550 single base substitution G C upstream_gene_variant LUSC-US 14 31602498 31602498 single base substitution C G downstream_gene_variant LUSC-US 14 31602498 31602498 single base substitution C G missense_variant D120H 358G>C LUSC-US 14 31602498 31602498 single base substitution C G missense_variant D1290H 3868G>C LUSC-US 14 31602498 31602498 single base substitution C G missense_variant D764H 2290G>C LUSC-US 14 31602498 31602498 single base substitution C G upstream_gene_variant LUSC-US 14 31604320 31604320 single base substitution G A downstream_gene_variant LUSC-US 14 31604320 31604320 single base substitution G A synonymous_variant G1112G 3336C>T LUSC-US 14 31604320 31604320 single base substitution G A synonymous_variant G586G 1758C>T LUSC-US 14 31604320 31604320 single base substitution G A upstream_gene_variant LUSC-US 14 31609180 31609180 single base substitution C T downstream_gene_variant LUSC-US 14 31609180 31609180 single base substitution C T missense_variant R440Q 1319G>A LUSC-US 14 31609180 31609180 single base substitution C T missense_variant R966Q 2897G>A LUSC-US 14 31609180 31609180 single base substitution C T upstream_gene_variant LUSC-US 14 31642569 31642569 single base substitution C A downstream_gene_variant LUSC-US 14 31642569 31642569 single base substitution C A exon_variant LUSC-US 14 31642569 31642569 single base substitution C A missense_variant V317L 949G>T MALY-DE 14 31565883 31565883 insertion of <=200bp - ATATATAT downstream_gene_variant MALY-DE 14 31567817 31567817 single base substitution A C downstream_gene_variant MALY-DE 14 31591372 31591372 single base substitution T C intron_variant MALY-DE 14 31591372 31591372 single base substitution T C upstream_gene_variant MALY-DE 14 31598602 31598602 single base substitution G T intron_variant MALY-DE 14 31598602 31598602 single base substitution G T synonymous_variant G1325G 3975C>A MALY-DE 14 31598602 31598602 single base substitution G T upstream_gene_variant MALY-DE 14 31619509 31619513 deletion of <=200bp TAATT - intron_variant MALY-DE 14 31622247 31622247 single base substitution G A intron_variant MALY-DE 14 31625723 31625724 deletion of <=200bp AC - intron_variant MALY-DE 14 31629750 31629750 single base substitution T A intron_variant MALY-DE 14 31630307 31630307 single base substitution A G intron_variant MALY-DE 14 31631746 31631746 single base substitution T G intron_variant MALY-DE 14 31633057 31633057 single base substitution T C intron_variant MALY-DE 14 31634278 31634278 single base substitution G C intron_variant MALY-DE 14 31641357 31641357 single base substitution C T downstream_gene_variant MALY-DE 14 31641357 31641357 single base substitution C T intron_variant MALY-DE 14 31641357 31641357 single base substitution C T upstream_gene_variant MALY-DE 14 31643809 31643809 single base substitution T A downstream_gene_variant MALY-DE 14 31643809 31643809 single base substitution T A intron_variant MALY-DE 14 31644976 31644976 single base substitution A C downstream_gene_variant MALY-DE 14 31644976 31644976 single base substitution A C intron_variant MALY-DE 14 31644976 31644976 single base substitution A C upstream_gene_variant MALY-DE 14 31644991 31644991 single base substitution A C downstream_gene_variant MALY-DE 14 31644991 31644991 single base substitution A C intron_variant MALY-DE 14 31644991 31644991 single base substitution A C upstream_gene_variant MALY-DE 14 31646717 31646719 deletion of <=200bp AAT - downstream_gene_variant MALY-DE 14 31646717 31646719 deletion of <=200bp AAT - intron_variant MALY-DE 14 31646717 31646719 deletion of <=200bp AAT - upstream_gene_variant MALY-DE 14 31652180 31652180 single base substitution T G intron_variant MALY-DE 14 31652847 31652847 single base substitution T C intron_variant MALY-DE 14 31652878 31652878 single base substitution T A intron_variant MALY-DE 14 31657273 31657273 single base substitution G C intron_variant MALY-DE 14 31676215 31676215 single base substitution T G intron_variant MALY-DE 14 31676215 31676215 single base substitution T G upstream_gene_variant MALY-DE 14 31677113 31677113 single base substitution C T upstream_gene_variant MELA-AU 14 31564757 31564757 single base substitution G A downstream_gene_variant MELA-AU 14 31564895 31564895 single base substitution G A downstream_gene_variant MELA-AU 14 31565627 31565630 deletion of <=200bp AAAT - downstream_gene_variant MELA-AU 14 31565882 31565882 single base substitution C T downstream_gene_variant MELA-AU 14 31566140 31566140 single base substitution G A downstream_gene_variant MELA-AU 14 31566286 31566287 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 14 31566597 31566597 single base substitution G A downstream_gene_variant MELA-AU 14 31570518 31570518 single base substitution C T downstream_gene_variant MELA-AU 14 31570518 31570518 single base substitution C T exon_variant MELA-AU 14 31570518 31570518 single base substitution C T synonymous_variant L2521L 7563G>A MELA-AU 14 31570518 31570518 single base substitution C T synonymous_variant L886L 2658G>A MELA-AU 14 31572471 31572471 single base substitution G A intron_variant MELA-AU 14 31572471 31572471 single base substitution G A upstream_gene_variant MELA-AU 14 31573306 31573306 single base substitution G A intron_variant MELA-AU 14 31573306 31573306 single base substitution G A upstream_gene_variant MELA-AU 14 31574128 31574128 single base substitution C T downstream_gene_variant MELA-AU 14 31574128 31574128 single base substitution C T intron_variant MELA-AU 14 31574128 31574128 single base substitution C T upstream_gene_variant MELA-AU 14 31574865 31574865 single base substitution G A downstream_gene_variant MELA-AU 14 31574865 31574865 single base substitution G A exon_variant MELA-AU 14 31574865 31574865 single base substitution G A synonymous_variant F2412F 7236C>T MELA-AU 14 31574865 31574865 single base substitution G A synonymous_variant F777F 2331C>T MELA-AU 14 31574865 31574865 single base substitution G A upstream_gene_variant MELA-AU 14 31575716 31575716 single base substitution C T downstream_gene_variant MELA-AU 14 31575716 31575716 single base substitution C T intron_variant MELA-AU 14 31575716 31575716 single base substitution C T upstream_gene_variant MELA-AU 14 31576134 31576134 single base substitution G A downstream_gene_variant MELA-AU 14 31576134 31576134 single base substitution G A exon_variant MELA-AU 14 31576134 31576134 single base substitution G A missense_variant S2315L 6944C>T MELA-AU 14 31576134 31576134 single base substitution G A missense_variant S680L 2039C>T MELA-AU 14 31576134 31576134 single base substitution G A upstream_gene_variant MELA-AU 14 31576632 31576632 single base substitution G A downstream_gene_variant MELA-AU 14 31576632 31576632 single base substitution G A intron_variant MELA-AU 14 31576632 31576632 single base substitution G A upstream_gene_variant MELA-AU 14 31576979 31576979 single base substitution C T downstream_gene_variant MELA-AU 14 31576979 31576979 single base substitution C T intron_variant MELA-AU 14 31576979 31576979 single base substitution C T upstream_gene_variant MELA-AU 14 31577592 31577592 single base substitution C T downstream_gene_variant MELA-AU 14 31577592 31577592 single base substitution C T intron_variant MELA-AU 14 31577592 31577592 single base substitution C T upstream_gene_variant MELA-AU 14 31578068 31578068 single base substitution T C downstream_gene_variant MELA-AU 14 31578068 31578068 single base substitution T C intron_variant MELA-AU 14 31578068 31578068 single base substitution T C upstream_gene_variant MELA-AU 14 31581213 31581213 deletion of <=200bp A - downstream_gene_variant MELA-AU 14 31581213 31581213 deletion of <=200bp A - intron_variant MELA-AU 14 31581374 31581374 single base substitution A T downstream_gene_variant MELA-AU 14 31581374 31581374 single base substitution A T intron_variant MELA-AU 14 31582411 31582411 single base substitution A T downstream_gene_variant MELA-AU 14 31582411 31582411 single base substitution A T intron_variant MELA-AU 14 31582411 31582411 single base substitution A T upstream_gene_variant MELA-AU 14 31582715 31582715 single base substitution G A downstream_gene_variant MELA-AU 14 31582715 31582715 single base substitution G A intron_variant MELA-AU 14 31582715 31582715 single base substitution G A upstream_gene_variant MELA-AU 14 31585057 31585057 single base substitution G A downstream_gene_variant MELA-AU 14 31585057 31585057 single base substitution G A intron_variant MELA-AU 14 31585057 31585057 single base substitution G A upstream_gene_variant MELA-AU 14 31586124 31586124 single base substitution G A downstream_gene_variant MELA-AU 14 31586124 31586124 single base substitution G A intron_variant MELA-AU 14 31586124 31586124 single base substitution G A upstream_gene_variant MELA-AU 14 31590095 31590095 single base substitution A G intron_variant MELA-AU 14 31590152 31590152 single base substitution G A intron_variant MELA-AU 14 31590672 31590672 single base substitution G A 3_prime_UTR_variant MELA-AU 14 31590672 31590672 single base substitution G A exon_variant MELA-AU 14 31590672 31590672 single base substitution G A missense_variant R1146C 3436C>T MELA-AU 14 31590672 31590672 single base substitution G A missense_variant R1719C 5155C>T MELA-AU 14 31590672 31590672 single base substitution G A missense_variant R84C 250C>T MELA-AU 14 31592249 31592249 single base substitution G T 3_prime_UTR_variant MELA-AU 14 31592249 31592249 single base substitution G T downstream_gene_variant MELA-AU 14 31592249 31592249 single base substitution G T exon_variant MELA-AU 14 31592249 31592249 single base substitution G T missense_variant F1089L 3267C>A MELA-AU 14 31592249 31592249 single base substitution G T missense_variant F1662L 4986C>A MELA-AU 14 31592249 31592249 single base substitution G T missense_variant F29L 87C>A MELA-AU 14 31592249 31592249 single base substitution G T upstream_gene_variant MELA-AU 14 31592251 31592251 single base substitution A T downstream_gene_variant MELA-AU 14 31592251 31592251 single base substitution A T exon_variant MELA-AU 14 31592251 31592251 single base substitution A T missense_variant F1089I 3265T>A MELA-AU 14 31592251 31592251 single base substitution A T missense_variant F1662I 4984T>A MELA-AU 14 31592251 31592251 single base substitution A T missense_variant F29I 85T>A MELA-AU 14 31592251 31592251 single base substitution A T splice_region_variant MELA-AU 14 31592251 31592251 single base substitution A T upstream_gene_variant MELA-AU 14 31592309 31592309 single base substitution G A downstream_gene_variant MELA-AU 14 31592309 31592309 single base substitution G A exon_variant MELA-AU 14 31592309 31592309 single base substitution G A intron_variant MELA-AU 14 31592309 31592309 single base substitution G A upstream_gene_variant MELA-AU 14 31592703 31592703 single base substitution G A downstream_gene_variant MELA-AU 14 31592703 31592703 single base substitution G A exon_variant MELA-AU 14 31592703 31592703 single base substitution G A intron_variant MELA-AU 14 31592703 31592703 single base substitution G A upstream_gene_variant MELA-AU 14 31592851 31592851 single base substitution G A downstream_gene_variant MELA-AU 14 31592851 31592851 single base substitution G A exon_variant MELA-AU 14 31592851 31592851 single base substitution G A intron_variant MELA-AU 14 31592851 31592851 single base substitution G A upstream_gene_variant MELA-AU 14 31593483 31593483 single base substitution C T downstream_gene_variant MELA-AU 14 31593483 31593483 single base substitution C T intron_variant MELA-AU 14 31593483 31593483 single base substitution C T upstream_gene_variant MELA-AU 14 31593695 31593695 single base substitution G A downstream_gene_variant MELA-AU 14 31593695 31593695 single base substitution G A intron_variant MELA-AU 14 31593695 31593695 single base substitution G A upstream_gene_variant MELA-AU 14 31593832 31593832 single base substitution G A downstream_gene_variant MELA-AU 14 31593832 31593832 single base substitution G A intron_variant MELA-AU 14 31593832 31593832 single base substitution G A upstream_gene_variant MELA-AU 14 31594569 31594569 single base substitution G A downstream_gene_variant MELA-AU 14 31594569 31594569 single base substitution G A intron_variant MELA-AU 14 31594569 31594569 single base substitution G A upstream_gene_variant MELA-AU 14 31594829 31594829 single base substitution A G downstream_gene_variant MELA-AU 14 31594829 31594829 single base substitution A G intron_variant MELA-AU 14 31594829 31594829 single base substitution A G upstream_gene_variant MELA-AU 14 31595004 31595004 single base substitution C T downstream_gene_variant MELA-AU 14 31595004 31595004 single base substitution C T intron_variant MELA-AU 14 31595004 31595004 single base substitution C T upstream_gene_variant MELA-AU 14 31595680 31595680 single base substitution G A downstream_gene_variant MELA-AU 14 31595680 31595680 single base substitution G A intron_variant MELA-AU 14 31595680 31595680 single base substitution G A upstream_gene_variant MELA-AU 14 31596366 31596366 single base substitution G A downstream_gene_variant MELA-AU 14 31596366 31596366 single base substitution G A intron_variant MELA-AU 14 31596366 31596366 single base substitution G A upstream_gene_variant MELA-AU 14 31596450 31596450 single base substitution G A downstream_gene_variant MELA-AU 14 31596450 31596450 single base substitution G A intron_variant MELA-AU 14 31596450 31596450 single base substitution G A upstream_gene_variant MELA-AU 14 31597184 31597184 single base substitution G A exon_variant MELA-AU 14 31597184 31597184 single base substitution G A synonymous_variant F1023F 3069C>T MELA-AU 14 31597184 31597184 single base substitution G A synonymous_variant F147F 441C>T MELA-AU 14 31597184 31597184 single base substitution G A synonymous_variant F1596F 4788C>T MELA-AU 14 31597184 31597184 single base substitution G A upstream_gene_variant MELA-AU 14 31597352 31597352 single base substitution G A intron_variant MELA-AU 14 31597352 31597352 single base substitution G A upstream_gene_variant MELA-AU 14 31597667 31597667 single base substitution G A intron_variant MELA-AU 14 31597667 31597667 single base substitution G A upstream_gene_variant MELA-AU 14 31600565 31600565 single base substitution G A downstream_gene_variant MELA-AU 14 31600565 31600565 single base substitution G A intron_variant MELA-AU 14 31600565 31600565 single base substitution G A upstream_gene_variant MELA-AU 14 31600643 31600643 single base substitution G A downstream_gene_variant MELA-AU 14 31600643 31600643 single base substitution G A intron_variant MELA-AU 14 31600643 31600643 single base substitution G A upstream_gene_variant MELA-AU 14 31601033 31601033 single base substitution A G downstream_gene_variant MELA-AU 14 31601033 31601033 single base substitution A G intron_variant MELA-AU 14 31601033 31601033 single base substitution A G upstream_gene_variant MELA-AU 14 31601229 31601229 single base substitution T C downstream_gene_variant MELA-AU 14 31601229 31601229 single base substitution T C intron_variant MELA-AU 14 31601229 31601229 single base substitution T C upstream_gene_variant MELA-AU 14 31601291 31601291 single base substitution G A downstream_gene_variant MELA-AU 14 31601291 31601291 single base substitution G A intron_variant MELA-AU 14 31601291 31601291 single base substitution G A upstream_gene_variant MELA-AU 14 31601412 31601412 single base substitution G A downstream_gene_variant MELA-AU 14 31601412 31601412 single base substitution G A intron_variant MELA-AU 14 31601412 31601412 single base substitution G A upstream_gene_variant MELA-AU 14 31602185 31602185 single base substitution G A downstream_gene_variant MELA-AU 14 31602185 31602185 single base substitution G A intron_variant MELA-AU 14 31602185 31602185 single base substitution G A upstream_gene_variant MELA-AU 14 31602765 31602765 single base substitution G A downstream_gene_variant MELA-AU 14 31602765 31602765 single base substitution G A missense_variant S1232F 3695C>T MELA-AU 14 31602765 31602765 single base substitution G A missense_variant S62F 185C>T MELA-AU 14 31602765 31602765 single base substitution G A missense_variant S706F 2117C>T MELA-AU 14 31602765 31602765 single base substitution G A upstream_gene_variant MELA-AU 14 31602794 31602794 single base substitution G A downstream_gene_variant MELA-AU 14 31602794 31602794 single base substitution G A synonymous_variant A1222A 3666C>T MELA-AU 14 31602794 31602794 single base substitution G A synonymous_variant A52A 156C>T MELA-AU 14 31602794 31602794 single base substitution G A synonymous_variant A696A 2088C>T MELA-AU 14 31602794 31602794 single base substitution G A upstream_gene_variant MELA-AU 14 31602852 31602852 single base substitution G A downstream_gene_variant MELA-AU 14 31602852 31602852 single base substitution G A missense_variant P1203L 3608C>T MELA-AU 14 31602852 31602852 single base substitution G A missense_variant P33L 98C>T MELA-AU 14 31602852 31602852 single base substitution G A missense_variant P677L 2030C>T MELA-AU 14 31602852 31602852 single base substitution G A upstream_gene_variant MELA-AU 14 31603997 31603997 single base substitution G A downstream_gene_variant MELA-AU 14 31603997 31603997 single base substitution G A intron_variant MELA-AU 14 31604159 31604160 multiple base substitution (>=2bp and <=200bp) CA AT downstream_gene_variant MELA-AU 14 31604159 31604160 multiple base substitution (>=2bp and <=200bp) CA AT missense_variant W1166M 3496TG>AT MELA-AU 14 31604159 31604160 multiple base substitution (>=2bp and <=200bp) CA AT missense_variant W640M 1918TG>AT MELA-AU 14 31604159 31604160 multiple base substitution (>=2bp and <=200bp) CA AT upstream_gene_variant MELA-AU 14 31604293 31604293 single base substitution A C downstream_gene_variant MELA-AU 14 31604293 31604293 single base substitution A C missense_variant D1121E 3363T>G MELA-AU 14 31604293 31604293 single base substitution A C missense_variant D595E 1785T>G MELA-AU 14 31604293 31604293 single base substitution A C upstream_gene_variant MELA-AU 14 31604417 31604417 single base substitution G A downstream_gene_variant MELA-AU 14 31604417 31604417 single base substitution G A intron_variant MELA-AU 14 31604417 31604417 single base substitution G A upstream_gene_variant MELA-AU 14 31604702 31604702 single base substitution G A downstream_gene_variant MELA-AU 14 31604702 31604702 single base substitution G A synonymous_variant Y1078Y 3234C>T MELA-AU 14 31604702 31604702 single base substitution G A synonymous_variant Y552Y 1656C>T MELA-AU 14 31604702 31604702 single base substitution G A upstream_gene_variant MELA-AU 14 31604705 31604705 single base substitution A T downstream_gene_variant MELA-AU 14 31604705 31604705 single base substitution A T synonymous_variant I1077I 3231T>A MELA-AU 14 31604705 31604705 single base substitution A T synonymous_variant I551I 1653T>A MELA-AU 14 31604705 31604705 single base substitution A T upstream_gene_variant MELA-AU 14 31604772 31604772 single base substitution C T exon_variant MELA-AU 14 31604772 31604772 single base substitution C T missense_variant R1055Q 3164G>A MELA-AU 14 31604772 31604772 single base substitution C T missense_variant R529Q 1586G>A MELA-AU 14 31604772 31604772 single base substitution C T upstream_gene_variant MELA-AU 14 31605021 31605021 single base substitution G A intron_variant MELA-AU 14 31605021 31605021 single base substitution G A upstream_gene_variant MELA-AU 14 31606742 31606742 single base substitution G C intron_variant MELA-AU 14 31606742 31606742 single base substitution G C upstream_gene_variant MELA-AU 14 31606914 31606915 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 31606914 31606915 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 14 31607783 31607783 single base substitution C A intron_variant MELA-AU 14 31607783 31607783 single base substitution C A upstream_gene_variant MELA-AU 14 31607883 31607883 single base substitution C T intron_variant MELA-AU 14 31607883 31607883 single base substitution C T upstream_gene_variant MELA-AU 14 31608288 31608288 single base substitution G A intron_variant MELA-AU 14 31608288 31608288 single base substitution G A upstream_gene_variant MELA-AU 14 31608766 31608766 single base substitution G A downstream_gene_variant MELA-AU 14 31608766 31608766 single base substitution G A intron_variant MELA-AU 14 31608766 31608766 single base substitution G A upstream_gene_variant MELA-AU 14 31610529 31610529 single base substitution T A downstream_gene_variant MELA-AU 14 31610529 31610529 single base substitution T A intron_variant MELA-AU 14 31610529 31610529 single base substitution T A upstream_gene_variant MELA-AU 14 31611054 31611054 single base substitution G A downstream_gene_variant MELA-AU 14 31611054 31611054 single base substitution G A intron_variant MELA-AU 14 31611204 31611204 single base substitution G A downstream_gene_variant MELA-AU 14 31611204 31611204 single base substitution G A intron_variant MELA-AU 14 31611688 31611688 single base substitution G A downstream_gene_variant MELA-AU 14 31611688 31611688 single base substitution G A intron_variant MELA-AU 14 31615716 31615716 single base substitution A C intron_variant MELA-AU 14 31616447 31616448 multiple base substitution (>=2bp and <=200bp) GA AC intron_variant MELA-AU 14 31617218 31617218 single base substitution G A intron_variant MELA-AU 14 31617519 31617519 single base substitution A T intron_variant MELA-AU 14 31617746 31617746 single base substitution G A intron_variant MELA-AU 14 31618488 31618488 single base substitution G A intron_variant MELA-AU 14 31618633 31618633 single base substitution G C intron_variant MELA-AU 14 31621064 31621064 single base substitution G A intron_variant MELA-AU 14 31621104 31621104 single base substitution G A intron_variant MELA-AU 14 31621791 31621791 single base substitution G A intron_variant MELA-AU 14 31622375 31622375 single base substitution G A intron_variant MELA-AU 14 31623007 31623007 single base substitution G A intron_variant MELA-AU 14 31623356 31623356 single base substitution G A intron_variant MELA-AU 14 31623394 31623394 single base substitution C T intron_variant MELA-AU 14 31623400 31623400 single base substitution G A intron_variant MELA-AU 14 31623433 31623433 single base substitution T C intron_variant MELA-AU 14 31623952 31623952 single base substitution G A intron_variant MELA-AU 14 31624702 31624702 single base substitution G T intron_variant MELA-AU 14 31624763 31624763 single base substitution G A intron_variant MELA-AU 14 31625563 31625563 single base substitution G A intron_variant MELA-AU 14 31626243 31626243 single base substitution T G intron_variant MELA-AU 14 31626862 31626862 single base substitution G A intron_variant MELA-AU 14 31627107 31627107 single base substitution G A intron_variant MELA-AU 14 31627268 31627276 deletion of <=200bp AAATTTAAA - intron_variant MELA-AU 14 31627449 31627449 single base substitution C G intron_variant MELA-AU 14 31628008 31628008 single base substitution G A intron_variant MELA-AU 14 31628736 31628736 single base substitution G A intron_variant MELA-AU 14 31629877 31629877 single base substitution G A intron_variant MELA-AU 14 31630741 31630741 single base substitution C T intron_variant MELA-AU 14 31632249 31632249 single base substitution C A intron_variant MELA-AU 14 31632358 31632358 single base substitution G A intron_variant MELA-AU 14 31632834 31632834 single base substitution G A intron_variant MELA-AU 14 31632895 31632895 single base substitution C G intron_variant MELA-AU 14 31635195 31635195 single base substitution C A intron_variant MELA-AU 14 31635497 31635497 single base substitution G T intron_variant MELA-AU 14 31635504 31635504 single base substitution G A intron_variant MELA-AU 14 31635648 31635648 single base substitution G A intron_variant MELA-AU 14 31635723 31635723 single base substitution T C intron_variant MELA-AU 14 31635983 31635983 single base substitution G A intron_variant MELA-AU 14 31636057 31636057 single base substitution T G intron_variant MELA-AU 14 31637320 31637320 single base substitution A T downstream_gene_variant MELA-AU 14 31637320 31637320 single base substitution A T intron_variant MELA-AU 14 31637676 31637676 single base substitution C T downstream_gene_variant MELA-AU 14 31637676 31637676 single base substitution C T missense_variant D484N 1450G>A MELA-AU 14 31637676 31637676 single base substitution C T upstream_gene_variant MELA-AU 14 31638007 31638007 single base substitution G A downstream_gene_variant MELA-AU 14 31638007 31638007 single base substitution G A intron_variant MELA-AU 14 31638007 31638007 single base substitution G A upstream_gene_variant MELA-AU 14 31638068 31638068 single base substitution G A downstream_gene_variant MELA-AU 14 31638068 31638068 single base substitution G A intron_variant MELA-AU 14 31638068 31638068 single base substitution G A upstream_gene_variant MELA-AU 14 31638562 31638563 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 14 31638562 31638563 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P482L 1444CC>TT MELA-AU 14 31638562 31638563 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 14 31638605 31638605 single base substitution G A downstream_gene_variant MELA-AU 14 31638605 31638605 single base substitution G A stop_gained R468* 1402C>T MELA-AU 14 31638605 31638605 single base substitution G A upstream_gene_variant MELA-AU 14 31638878 31638878 single base substitution G A downstream_gene_variant MELA-AU 14 31638878 31638878 single base substitution G A intron_variant MELA-AU 14 31638878 31638878 single base substitution G A upstream_gene_variant MELA-AU 14 31638900 31638900 single base substitution A G downstream_gene_variant MELA-AU 14 31638900 31638900 single base substitution A G intron_variant MELA-AU 14 31638900 31638900 single base substitution A G upstream_gene_variant MELA-AU 14 31639223 31639223 single base substitution A G downstream_gene_variant MELA-AU 14 31639223 31639223 single base substitution A G intron_variant MELA-AU 14 31639223 31639223 single base substitution A G upstream_gene_variant MELA-AU 14 31640864 31640864 single base substitution G A downstream_gene_variant MELA-AU 14 31640864 31640864 single base substitution G A intron_variant MELA-AU 14 31640864 31640864 single base substitution G A upstream_gene_variant MELA-AU 14 31641801 31641801 single base substitution C T downstream_gene_variant MELA-AU 14 31641801 31641801 single base substitution C T intron_variant MELA-AU 14 31641801 31641801 single base substitution C T upstream_gene_variant MELA-AU 14 31642648 31642648 single base substitution G A downstream_gene_variant MELA-AU 14 31642648 31642648 single base substitution G A intron_variant MELA-AU 14 31642689 31642689 single base substitution T G downstream_gene_variant MELA-AU 14 31642689 31642689 single base substitution T G intron_variant MELA-AU 14 31642705 31642705 single base substitution A T downstream_gene_variant MELA-AU 14 31642705 31642705 single base substitution A T intron_variant MELA-AU 14 31642717 31642717 single base substitution A T downstream_gene_variant MELA-AU 14 31642717 31642717 single base substitution A T intron_variant MELA-AU 14 31643571 31643571 single base substitution T C downstream_gene_variant MELA-AU 14 31643571 31643571 single base substitution T C intron_variant MELA-AU 14 31643620 31643620 single base substitution G A downstream_gene_variant MELA-AU 14 31643620 31643620 single base substitution G A intron_variant MELA-AU 14 31644089 31644089 single base substitution G A downstream_gene_variant MELA-AU 14 31644089 31644089 single base substitution G A intron_variant MELA-AU 14 31645261 31645261 single base substitution C T downstream_gene_variant MELA-AU 14 31645261 31645261 single base substitution C T intron_variant MELA-AU 14 31645261 31645261 single base substitution C T upstream_gene_variant MELA-AU 14 31645477 31645477 single base substitution G A downstream_gene_variant MELA-AU 14 31645477 31645477 single base substitution G A intron_variant MELA-AU 14 31645477 31645477 single base substitution G A upstream_gene_variant MELA-AU 14 31645671 31645671 single base substitution G A downstream_gene_variant MELA-AU 14 31645671 31645671 single base substitution G A intron_variant MELA-AU 14 31645671 31645671 single base substitution G A upstream_gene_variant MELA-AU 14 31645812 31645812 single base substitution A T downstream_gene_variant MELA-AU 14 31645812 31645812 single base substitution A T intron_variant MELA-AU 14 31645812 31645812 single base substitution A T upstream_gene_variant MELA-AU 14 31647906 31647907 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 31647906 31647907 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 14 31649422 31649422 single base substitution G A intron_variant MELA-AU 14 31651194 31651194 single base substitution G A intron_variant MELA-AU 14 31654662 31654662 single base substitution G A intron_variant MELA-AU 14 31654976 31654976 single base substitution G A intron_variant MELA-AU 14 31655267 31655267 single base substitution C T intron_variant MELA-AU 14 31657102 31657102 single base substitution C G intron_variant MELA-AU 14 31657340 31657340 single base substitution T C intron_variant MELA-AU 14 31657647 31657647 single base substitution G A intron_variant MELA-AU 14 31659282 31659282 single base substitution A G intron_variant MELA-AU 14 31659996 31659996 single base substitution G A intron_variant MELA-AU 14 31660735 31660735 single base substitution G A intron_variant MELA-AU 14 31661446 31661446 single base substitution G A intron_variant MELA-AU 14 31661552 31661552 single base substitution A C intron_variant MELA-AU 14 31661822 31661822 single base substitution G A intron_variant MELA-AU 14 31662058 31662058 single base substitution C T intron_variant MELA-AU 14 31662083 31662083 single base substitution C T intron_variant MELA-AU 14 31662169 31662169 single base substitution G A intron_variant MELA-AU 14 31662834 31662834 single base substitution G A intron_variant MELA-AU 14 31662962 31662962 single base substitution C T intron_variant MELA-AU 14 31662998 31662998 single base substitution C T intron_variant MELA-AU 14 31663811 31663811 single base substitution G A intron_variant MELA-AU 14 31664159 31664159 single base substitution G A intron_variant MELA-AU 14 31665021 31665021 single base substitution G T intron_variant MELA-AU 14 31665100 31665100 single base substitution G A intron_variant MELA-AU 14 31665176 31665176 single base substitution A G intron_variant MELA-AU 14 31665392 31665392 single base substitution C T intron_variant MELA-AU 14 31667862 31667862 single base substitution C T downstream_gene_variant MELA-AU 14 31667862 31667862 single base substitution C T intron_variant MELA-AU 14 31668742 31668742 single base substitution G A downstream_gene_variant MELA-AU 14 31668742 31668742 single base substitution G A intron_variant MELA-AU 14 31669377 31669377 single base substitution G A downstream_gene_variant MELA-AU 14 31669377 31669377 single base substitution G A intron_variant MELA-AU 14 31669994 31669994 single base substitution A T downstream_gene_variant MELA-AU 14 31669994 31669994 single base substitution A T intron_variant MELA-AU 14 31670453 31670453 single base substitution A G downstream_gene_variant MELA-AU 14 31670453 31670453 single base substitution A G intron_variant MELA-AU 14 31670924 31670924 single base substitution C A downstream_gene_variant MELA-AU 14 31670924 31670924 single base substitution C A intron_variant MELA-AU 14 31671096 31671096 single base substitution G A downstream_gene_variant MELA-AU 14 31671096 31671096 single base substitution G A intron_variant MELA-AU 14 31672087 31672087 single base substitution G A downstream_gene_variant MELA-AU 14 31672087 31672087 single base substitution G A intron_variant MELA-AU 14 31672450 31672450 single base substitution C T exon_variant MELA-AU 14 31672450 31672450 single base substitution C T intron_variant MELA-AU 14 31673710 31673710 single base substitution G A intron_variant MELA-AU 14 31673824 31673824 single base substitution G A intron_variant MELA-AU 14 31674810 31674810 single base substitution C T intron_variant MELA-AU 14 31675923 31675923 single base substitution C T intron_variant MELA-AU 14 31675923 31675923 single base substitution C T upstream_gene_variant MELA-AU 14 31676762 31676762 single base substitution G A 5_prime_UTR_variant MELA-AU 14 31676762 31676762 single base substitution G A exon_variant MELA-AU 14 31676762 31676762 single base substitution G A upstream_gene_variant MELA-AU 14 31677853 31677853 single base substitution C T upstream_gene_variant MELA-AU 14 31678044 31678044 single base substitution C T upstream_gene_variant MELA-AU 14 31678249 31678249 single base substitution C T upstream_gene_variant MELA-AU 14 31678401 31678401 single base substitution C T upstream_gene_variant MELA-AU 14 31678822 31678822 single base substitution C T upstream_gene_variant MELA-AU 14 31678991 31678991 single base substitution C T upstream_gene_variant MELA-AU 14 31679040 31679040 single base substitution G A upstream_gene_variant MELA-AU 14 31679222 31679222 single base substitution T A upstream_gene_variant MELA-AU 14 31679447 31679447 single base substitution G A upstream_gene_variant MELA-AU 14 31680035 31680035 single base substitution G A upstream_gene_variant MELA-AU 14 31680073 31680073 single base substitution G A upstream_gene_variant MELA-AU 14 31680389 31680389 single base substitution T G upstream_gene_variant MELA-AU 14 31680533 31680533 single base substitution C T upstream_gene_variant MELA-AU 14 31680744 31680744 single base substitution G A upstream_gene_variant MELA-AU 14 31681341 31681341 single base substitution G A upstream_gene_variant MELA-AU 14 31681703 31681703 single base substitution C T upstream_gene_variant MELA-AU 14 31681882 31681882 single base substitution C T upstream_gene_variant ORCA-IN 14 31581640 31581640 single base substitution G T downstream_gene_variant ORCA-IN 14 31581640 31581640 single base substitution G T exon_variant ORCA-IN 14 31581640 31581640 single base substitution G T missense_variant T2087K 6260C>A ORCA-IN 14 31581640 31581640 single base substitution G T missense_variant T452K 1355C>A ORCA-IN 14 31596377 31596377 single base substitution C T downstream_gene_variant ORCA-IN 14 31596377 31596377 single base substitution C T intron_variant ORCA-IN 14 31596377 31596377 single base substitution C T upstream_gene_variant ORCA-IN 14 31604797 31604797 single base substitution C G exon_variant ORCA-IN 14 31604797 31604797 single base substitution C G missense_variant D1047H 3139G>C ORCA-IN 14 31604797 31604797 single base substitution C G missense_variant D521H 1561G>C ORCA-IN 14 31604797 31604797 single base substitution C G upstream_gene_variant ORCA-IN 14 31622025 31622025 single base substitution C T intron_variant ORCA-IN 14 31627706 31627706 single base substitution T C intron_variant ORCA-IN 14 31657340 31657340 single base substitution T C intron_variant ORCA-IN 14 31681754 31681754 single base substitution G C upstream_gene_variant OV-AU 14 31564975 31564975 single base substitution T C downstream_gene_variant OV-AU 14 31588666 31588666 single base substitution T G downstream_gene_variant OV-AU 14 31588666 31588666 single base substitution T G intron_variant OV-AU 14 31598166 31598166 single base substitution G A intron_variant OV-AU 14 31598166 31598166 single base substitution G A missense_variant R1471C 4411C>T OV-AU 14 31598166 31598166 single base substitution G A missense_variant R898C 2692C>T OV-AU 14 31598166 31598166 single base substitution G A upstream_gene_variant OV-AU 14 31599139 31599139 single base substitution A G intron_variant OV-AU 14 31599139 31599139 single base substitution A G upstream_gene_variant OV-AU 14 31603161 31603161 single base substitution G A downstream_gene_variant OV-AU 14 31603161 31603161 single base substitution G A intron_variant OV-AU 14 31611605 31611605 single base substitution G A downstream_gene_variant OV-AU 14 31611605 31611605 single base substitution G A intron_variant OV-AU 14 31615164 31615164 single base substitution T C intron_variant OV-AU 14 31620913 31620913 single base substitution T A intron_variant OV-AU 14 31624885 31624885 single base substitution C T intron_variant OV-AU 14 31638020 31638020 single base substitution G A downstream_gene_variant OV-AU 14 31638020 31638020 single base substitution G A intron_variant OV-AU 14 31638020 31638020 single base substitution G A upstream_gene_variant OV-AU 14 31638544 31638544 single base substitution A T downstream_gene_variant OV-AU 14 31638544 31638544 single base substitution A T intron_variant OV-AU 14 31638544 31638544 single base substitution A T upstream_gene_variant OV-AU 14 31641288 31641288 single base substitution T A downstream_gene_variant OV-AU 14 31641288 31641288 single base substitution T A synonymous_variant L399L 1197A>T OV-AU 14 31641288 31641288 single base substitution T A upstream_gene_variant OV-AU 14 31644424 31644424 single base substitution T G downstream_gene_variant OV-AU 14 31644424 31644424 single base substitution T G intron_variant OV-AU 14 31644424 31644424 single base substitution T G upstream_gene_variant OV-AU 14 31647055 31647055 single base substitution C A downstream_gene_variant OV-AU 14 31647055 31647055 single base substitution C A intron_variant OV-AU 14 31647055 31647055 single base substitution C A upstream_gene_variant OV-AU 14 31652242 31652242 single base substitution A C intron_variant OV-AU 14 31656368 31656368 single base substitution A G intron_variant OV-AU 14 31657336 31657336 single base substitution T C intron_variant OV-AU 14 31659107 31659107 single base substitution C G intron_variant OV-AU 14 31663165 31663165 single base substitution G A intron_variant OV-AU 14 31667648 31667648 single base substitution A T downstream_gene_variant OV-AU 14 31667648 31667648 single base substitution A T intron_variant OV-AU 14 31671659 31671659 single base substitution G T downstream_gene_variant OV-AU 14 31671659 31671659 single base substitution G T intron_variant OV-AU 14 31673362 31673362 single base substitution T C intron_variant OV-AU 14 31675144 31675144 single base substitution G C 5_prime_UTR_variant OV-AU 14 31675144 31675144 single base substitution G C exon_variant OV-AU 14 31675893 31675893 single base substitution C A intron_variant OV-AU 14 31675893 31675893 single base substitution C A upstream_gene_variant OV-AU 14 31676812 31676812 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant OV-AU 14 31676812 31676812 single base substitution G A exon_variant OV-AU 14 31676812 31676812 single base substitution G A upstream_gene_variant OV-AU 14 31680376 31680376 single base substitution C A upstream_gene_variant PACA-AU 14 31572317 31572317 single base substitution T G intron_variant PACA-AU 14 31572317 31572317 single base substitution T G upstream_gene_variant PACA-AU 14 31582938 31582938 single base substitution G T downstream_gene_variant PACA-AU 14 31582938 31582938 single base substitution G T intron_variant PACA-AU 14 31582938 31582938 single base substitution G T upstream_gene_variant PACA-AU 14 31585667 31585667 deletion of <=200bp A - downstream_gene_variant PACA-AU 14 31585667 31585667 deletion of <=200bp A - intron_variant PACA-AU 14 31585667 31585667 deletion of <=200bp A - splice_region_variant PACA-AU 14 31585667 31585667 deletion of <=200bp A - upstream_gene_variant PACA-AU 14 31586586 31586586 single base substitution A T downstream_gene_variant PACA-AU 14 31586586 31586586 single base substitution A T intron_variant PACA-AU 14 31586586 31586586 single base substitution A T upstream_gene_variant PACA-AU 14 31589786 31589789 deletion of <=200bp TAAA - intron_variant PACA-AU 14 31596497 31596497 single base substitution T A downstream_gene_variant PACA-AU 14 31596497 31596497 single base substitution T A intron_variant PACA-AU 14 31596497 31596497 single base substitution T A upstream_gene_variant PACA-AU 14 31596558 31596558 single base substitution T G downstream_gene_variant PACA-AU 14 31596558 31596558 single base substitution T G intron_variant PACA-AU 14 31596558 31596558 single base substitution T G upstream_gene_variant PACA-AU 14 31599065 31599065 single base substitution C G intron_variant PACA-AU 14 31599065 31599065 single base substitution C G upstream_gene_variant PACA-AU 14 31604297 31604297 single base substitution C T downstream_gene_variant PACA-AU 14 31604297 31604297 single base substitution C T missense_variant R1120H 3359G>A PACA-AU 14 31604297 31604297 single base substitution C T missense_variant R594H 1781G>A PACA-AU 14 31604297 31604297 single base substitution C T upstream_gene_variant PACA-AU 14 31608627 31608627 single base substitution T G downstream_gene_variant PACA-AU 14 31608627 31608627 single base substitution T G intron_variant PACA-AU 14 31608627 31608627 single base substitution T G upstream_gene_variant PACA-AU 14 31611797 31611797 single base substitution C A downstream_gene_variant PACA-AU 14 31611797 31611797 single base substitution C A intron_variant PACA-AU 14 31634111 31634111 single base substitution C T intron_variant PACA-AU 14 31636071 31636071 single base substitution A T intron_variant PACA-AU 14 31642680 31642681 deletion of <=200bp AA - downstream_gene_variant PACA-AU 14 31642680 31642681 deletion of <=200bp AA - intron_variant PACA-AU 14 31642979 31642979 single base substitution G A downstream_gene_variant PACA-AU 14 31642979 31642979 single base substitution G A exon_variant PACA-AU 14 31642979 31642979 single base substitution G A synonymous_variant L213L 637C>T PACA-AU 14 31645560 31645560 single base substitution T G downstream_gene_variant PACA-AU 14 31645560 31645560 single base substitution T G intron_variant PACA-AU 14 31645560 31645560 single base substitution T G upstream_gene_variant PACA-AU 14 31655232 31655232 single base substitution G T intron_variant PACA-AU 14 31662455 31662455 single base substitution A G intron_variant PACA-AU 14 31669635 31669635 single base substitution T C downstream_gene_variant PACA-AU 14 31669635 31669635 single base substitution T C intron_variant PACA-AU 14 31672771 31672771 single base substitution C T exon_variant PACA-AU 14 31672771 31672771 single base substitution C T intron_variant PACA-AU 14 31675805 31675805 single base substitution T C intron_variant PACA-AU 14 31675805 31675805 single base substitution T C upstream_gene_variant PACA-AU 14 31680567 31680567 single base substitution C T upstream_gene_variant PACA-AU 14 31681106 31681106 single base substitution T G upstream_gene_variant PACA-AU 14 31681606 31681606 single base substitution G A upstream_gene_variant PACA-CA 14 31566448 31566448 single base substitution C A downstream_gene_variant PACA-CA 14 31566864 31566864 single base substitution C T downstream_gene_variant PACA-CA 14 31567121 31567121 single base substitution C T downstream_gene_variant PACA-CA 14 31567393 31567393 single base substitution T A downstream_gene_variant PACA-CA 14 31572156 31572156 single base substitution A G exon_variant PACA-CA 14 31572156 31572156 single base substitution A G missense_variant Y2506H 7516T>C PACA-CA 14 31572156 31572156 single base substitution A G missense_variant Y871H 2611T>C PACA-CA 14 31572156 31572156 single base substitution A G upstream_gene_variant PACA-CA 14 31573666 31573666 single base substitution G C downstream_gene_variant PACA-CA 14 31573666 31573666 single base substitution G C intron_variant PACA-CA 14 31573666 31573666 single base substitution G C upstream_gene_variant PACA-CA 14 31574115 31574115 single base substitution C T downstream_gene_variant PACA-CA 14 31574115 31574115 single base substitution C T intron_variant PACA-CA 14 31574115 31574115 single base substitution C T upstream_gene_variant PACA-CA 14 31580888 31580888 single base substitution A G downstream_gene_variant PACA-CA 14 31580888 31580888 single base substitution A G intron_variant PACA-CA 14 31582798 31582798 single base substitution C A downstream_gene_variant PACA-CA 14 31582798 31582798 single base substitution C A intron_variant PACA-CA 14 31582798 31582798 single base substitution C A upstream_gene_variant PACA-CA 14 31591580 31591580 single base substitution C T intron_variant PACA-CA 14 31591580 31591580 single base substitution C T upstream_gene_variant PACA-CA 14 31593066 31593066 single base substitution A T downstream_gene_variant PACA-CA 14 31593066 31593066 single base substitution A T intron_variant PACA-CA 14 31593066 31593066 single base substitution A T upstream_gene_variant PACA-CA 14 31594071 31594071 single base substitution T C downstream_gene_variant PACA-CA 14 31594071 31594071 single base substitution T C intron_variant PACA-CA 14 31594071 31594071 single base substitution T C upstream_gene_variant PACA-CA 14 31596813 31596813 single base substitution C T downstream_gene_variant PACA-CA 14 31596813 31596813 single base substitution C T exon_variant PACA-CA 14 31596813 31596813 single base substitution C T intron_variant PACA-CA 14 31596813 31596813 single base substitution C T upstream_gene_variant PACA-CA 14 31604046 31604046 deletion of <=200bp G - downstream_gene_variant PACA-CA 14 31604046 31604046 deletion of <=200bp G - intron_variant PACA-CA 14 31606447 31606447 single base substitution C T intron_variant PACA-CA 14 31606447 31606447 single base substitution C T upstream_gene_variant PACA-CA 14 31608908 31608908 single base substitution T A downstream_gene_variant PACA-CA 14 31608908 31608908 single base substitution T A intron_variant PACA-CA 14 31608908 31608908 single base substitution T A upstream_gene_variant PACA-CA 14 31611929 31611929 single base substitution G A downstream_gene_variant PACA-CA 14 31611929 31611929 single base substitution G A intron_variant PACA-CA 14 31616807 31616807 single base substitution A T intron_variant PACA-CA 14 31618176 31618176 single base substitution T C synonymous_variant K256K 768A>G PACA-CA 14 31618176 31618176 single base substitution T C synonymous_variant K782K 2346A>G PACA-CA 14 31620913 31620914 deletion of <=200bp TA - intron_variant PACA-CA 14 31625440 31625440 single base substitution G A intron_variant PACA-CA 14 31628556 31628556 deletion of <=200bp T - intron_variant PACA-CA 14 31633259 31633259 single base substitution C A intron_variant PACA-CA 14 31633799 31633799 single base substitution G A intron_variant PACA-CA 14 31633849 31633849 single base substitution T C intron_variant PACA-CA 14 31642248 31642248 single base substitution C T downstream_gene_variant PACA-CA 14 31642248 31642248 single base substitution C T intron_variant PACA-CA 14 31642248 31642248 single base substitution C T upstream_gene_variant PACA-CA 14 31642966 31642966 single base substitution A C downstream_gene_variant PACA-CA 14 31642966 31642966 single base substitution A C exon_variant PACA-CA 14 31642966 31642966 single base substitution A C missense_variant F217C 650T>G PACA-CA 14 31645416 31645416 single base substitution G T downstream_gene_variant PACA-CA 14 31645416 31645416 single base substitution G T intron_variant PACA-CA 14 31645416 31645416 single base substitution G T upstream_gene_variant PACA-CA 14 31651061 31651061 deletion of <=200bp T - intron_variant PACA-CA 14 31656980 31656980 single base substitution T A intron_variant PACA-CA 14 31657329 31657352 deletion of <=200bp AGATAGATAGATAGATAGATAGAC - intron_variant PACA-CA 14 31657820 31657820 deletion of <=200bp T - intron_variant PACA-CA 14 31667937 31667937 single base substitution G A downstream_gene_variant PACA-CA 14 31667937 31667937 single base substitution G A intron_variant PACA-CA 14 31668791 31668791 single base substitution C T downstream_gene_variant PACA-CA 14 31668791 31668791 single base substitution C T intron_variant PACA-CA 14 31670168 31670168 single base substitution C A downstream_gene_variant PACA-CA 14 31670168 31670168 single base substitution C A intron_variant PACA-CA 14 31672294 31672294 insertion of <=200bp - A exon_variant PACA-CA 14 31672294 31672294 insertion of <=200bp - A intron_variant PACA-CA 14 31673356 31673356 single base substitution C T intron_variant PACA-CA 14 31674089 31674089 single base substitution A G intron_variant PACA-CA 14 31677984 31677984 single base substitution G A upstream_gene_variant PACA-CA 14 31679130 31679130 single base substitution G A upstream_gene_variant PAEN-AU 14 31583396 31583396 single base substitution C G downstream_gene_variant PAEN-AU 14 31583396 31583396 single base substitution C G exon_variant PAEN-AU 14 31583396 31583396 single base substitution C G intron_variant PAEN-AU 14 31583396 31583396 single base substitution C G upstream_gene_variant PAEN-AU 14 31596691 31596691 single base substitution G A downstream_gene_variant PAEN-AU 14 31596691 31596691 single base substitution G A intron_variant PAEN-AU 14 31596691 31596691 single base substitution G A upstream_gene_variant PAEN-AU 14 31620164 31620164 single base substitution T G intron_variant PAEN-AU 14 31632299 31632299 single base substitution A G intron_variant PAEN-AU 14 31657336 31657336 single base substitution T C intron_variant PAEN-AU 14 31669624 31669624 single base substitution G A downstream_gene_variant PAEN-AU 14 31669624 31669624 single base substitution G A intron_variant PAEN-IT 14 31610530 31610530 single base substitution A T downstream_gene_variant PAEN-IT 14 31610530 31610530 single base substitution A T intron_variant PAEN-IT 14 31610530 31610530 single base substitution A T upstream_gene_variant PAEN-IT 14 31639413 31639413 single base substitution T A downstream_gene_variant PAEN-IT 14 31639413 31639413 single base substitution T A intron_variant PAEN-IT 14 31639413 31639413 single base substitution T A upstream_gene_variant PBCA-DE 14 31567077 31567077 single base substitution G A downstream_gene_variant PBCA-DE 14 31577795 31577795 single base substitution C T downstream_gene_variant PBCA-DE 14 31577795 31577795 single base substitution C T intron_variant PBCA-DE 14 31577795 31577795 single base substitution C T upstream_gene_variant PBCA-DE 14 31591586 31591587 deletion of <=200bp TG - intron_variant PBCA-DE 14 31591586 31591587 deletion of <=200bp TG - upstream_gene_variant PBCA-DE 14 31596909 31596909 single base substitution A C downstream_gene_variant PBCA-DE 14 31596909 31596909 single base substitution A C exon_variant PBCA-DE 14 31596909 31596909 single base substitution A C intron_variant PBCA-DE 14 31596909 31596909 single base substitution A C upstream_gene_variant PBCA-DE 14 31608248 31608249 deletion of <=200bp AT - intron_variant PBCA-DE 14 31608248 31608249 deletion of <=200bp AT - upstream_gene_variant PBCA-DE 14 31626203 31626203 single base substitution C G missense_variant G592A 1775G>C PBCA-DE 14 31626203 31626203 single base substitution C G missense_variant G66A 197G>C PBCA-DE 14 31657344 31657344 single base substitution T C intron_variant PBCA-DE 14 31657348 31657348 single base substitution T C intron_variant PBCA-DE 14 31662621 31662621 single base substitution C G intron_variant PBCA-DE 14 31668790 31668790 single base substitution G A downstream_gene_variant PBCA-DE 14 31668790 31668790 single base substitution G A intron_variant PBCA-DE 14 31675957 31675957 insertion of <=200bp - A intron_variant PBCA-DE 14 31675957 31675957 insertion of <=200bp - A upstream_gene_variant PRAD-CA 14 31597746 31597746 single base substitution G C intron_variant PRAD-CA 14 31597746 31597746 single base substitution G C upstream_gene_variant PRAD-CA 14 31600485 31600485 single base substitution C A downstream_gene_variant PRAD-CA 14 31600485 31600485 single base substitution C A intron_variant PRAD-CA 14 31600485 31600485 single base substitution C A upstream_gene_variant PRAD-CA 14 31604876 31604876 single base substitution C T intron_variant PRAD-CA 14 31604876 31604876 single base substitution C T upstream_gene_variant PRAD-CA 14 31629473 31629473 single base substitution A C intron_variant PRAD-CA 14 31638264 31638264 single base substitution A T downstream_gene_variant PRAD-CA 14 31638264 31638264 single base substitution A T intron_variant PRAD-CA 14 31638264 31638264 single base substitution A T upstream_gene_variant PRAD-CA 14 31656695 31656695 single base substitution G A intron_variant PRAD-UK 14 31577403 31577403 single base substitution T C downstream_gene_variant PRAD-UK 14 31577403 31577403 single base substitution T C intron_variant PRAD-UK 14 31577403 31577403 single base substitution T C upstream_gene_variant PRAD-UK 14 31584883 31584883 single base substitution C G downstream_gene_variant PRAD-UK 14 31584883 31584883 single base substitution C G intron_variant PRAD-UK 14 31584883 31584883 single base substitution C G upstream_gene_variant PRAD-UK 14 31588785 31588785 single base substitution A T downstream_gene_variant PRAD-UK 14 31588785 31588785 single base substitution A T intron_variant PRAD-UK 14 31589891 31589891 insertion of <=200bp - A intron_variant PRAD-UK 14 31592285 31592285 single base substitution C T downstream_gene_variant PRAD-UK 14 31592285 31592285 single base substitution C T exon_variant PRAD-UK 14 31592285 31592285 single base substitution C T intron_variant PRAD-UK 14 31592285 31592285 single base substitution C T upstream_gene_variant PRAD-UK 14 31621977 31621977 single base substitution A C intron_variant PRAD-UK 14 31626593 31626593 single base substitution C G intron_variant PRAD-UK 14 31636659 31636659 single base substitution T C intron_variant PRAD-UK 14 31638733 31638733 single base substitution C T downstream_gene_variant PRAD-UK 14 31638733 31638733 single base substitution C T intron_variant PRAD-UK 14 31638733 31638733 single base substitution C T upstream_gene_variant PRAD-UK 14 31648894 31648894 single base substitution A C intron_variant PRAD-UK 14 31648894 31648894 single base substitution A C upstream_gene_variant PRAD-UK 14 31649866 31649866 single base substitution G T intron_variant PRAD-UK 14 31667056 31667056 single base substitution C T intron_variant PRAD-UK 14 31667784 31667784 single base substitution T C downstream_gene_variant PRAD-UK 14 31667784 31667784 single base substitution T C intron_variant PRAD-UK 14 31668287 31668287 single base substitution G T downstream_gene_variant PRAD-UK 14 31668287 31668287 single base substitution G T intron_variant PRAD-UK 14 31670633 31670638 deletion of <=200bp TAACAT - downstream_gene_variant PRAD-UK 14 31670633 31670638 deletion of <=200bp TAACAT - intron_variant PRAD-UK 14 31678220 31678220 single base substitution G A upstream_gene_variant READ-US 14 31585632 31585632 single base substitution C T downstream_gene_variant READ-US 14 31585632 31585632 single base substitution C T exon_variant READ-US 14 31585632 31585632 single base substitution C T missense_variant E1237K 3709G>A READ-US 14 31585632 31585632 single base substitution C T missense_variant E175K 523G>A READ-US 14 31585632 31585632 single base substitution C T missense_variant E1810K 5428G>A READ-US 14 31585632 31585632 single base substitution C T upstream_gene_variant READ-US 14 31597079 31597079 single base substitution A G exon_variant READ-US 14 31597079 31597079 single base substitution A G synonymous_variant G1058G 3174T>C READ-US 14 31597079 31597079 single base substitution A G synonymous_variant G1631G 4893T>C READ-US 14 31597079 31597079 single base substitution A G synonymous_variant G182G 546T>C READ-US 14 31597079 31597079 single base substitution A G upstream_gene_variant READ-US 14 31626499 31626499 single base substitution G T missense_variant L19I 55C>A READ-US 14 31626499 31626499 single base substitution G T missense_variant L545I 1633C>A READ-US 14 31641111 31641111 single base substitution A G downstream_gene_variant READ-US 14 31641111 31641111 single base substitution A G missense_variant S430P 1288T>C READ-US 14 31641111 31641111 single base substitution A G upstream_gene_variant RECA-EU 14 31572436 31572436 single base substitution A G intron_variant RECA-EU 14 31572436 31572436 single base substitution A G upstream_gene_variant RECA-EU 14 31583878 31583878 single base substitution C T downstream_gene_variant RECA-EU 14 31583878 31583878 single base substitution C T intron_variant RECA-EU 14 31583878 31583878 single base substitution C T upstream_gene_variant RECA-EU 14 31588928 31588928 single base substitution T A downstream_gene_variant RECA-EU 14 31588928 31588928 single base substitution T A exon_variant RECA-EU 14 31588928 31588928 single base substitution T A missense_variant I1222L 3664A>T RECA-EU 14 31588928 31588928 single base substitution T A missense_variant I160L 478A>T RECA-EU 14 31588928 31588928 single base substitution T A missense_variant I1795L 5383A>T RECA-EU 14 31594530 31594530 single base substitution G A downstream_gene_variant RECA-EU 14 31594530 31594530 single base substitution G A intron_variant RECA-EU 14 31594530 31594530 single base substitution G A upstream_gene_variant RECA-EU 14 31596239 31596239 single base substitution G T downstream_gene_variant RECA-EU 14 31596239 31596239 single base substitution G T intron_variant RECA-EU 14 31596239 31596239 single base substitution G T upstream_gene_variant RECA-EU 14 31596240 31596240 single base substitution C A downstream_gene_variant RECA-EU 14 31596240 31596240 single base substitution C A intron_variant RECA-EU 14 31596240 31596240 single base substitution C A upstream_gene_variant RECA-EU 14 31617342 31617342 single base substitution T A intron_variant RECA-EU 14 31624182 31624182 single base substitution A G intron_variant RECA-EU 14 31629447 31629447 single base substitution A C intron_variant RECA-EU 14 31632285 31632285 single base substitution G A intron_variant RECA-EU 14 31652840 31652840 single base substitution A T intron_variant RECA-EU 14 31659516 31659516 single base substitution A G intron_variant RECA-EU 14 31661756 31661756 single base substitution A G intron_variant RECA-EU 14 31663515 31663515 single base substitution T A intron_variant RECA-EU 14 31665922 31665922 single base substitution T G intron_variant RECA-EU 14 31670212 31670212 single base substitution A G downstream_gene_variant RECA-EU 14 31670212 31670212 single base substitution A G intron_variant RECA-EU 14 31677438 31677438 single base substitution C T upstream_gene_variant RECA-EU 14 31679965 31679965 single base substitution A T upstream_gene_variant RECA-EU 14 31680624 31680624 single base substitution T C upstream_gene_variant SKCA-BR 14 31567053 31567053 single base substitution A C downstream_gene_variant SKCA-BR 14 31567707 31567707 single base substitution G A downstream_gene_variant SKCA-BR 14 31568601 31568601 single base substitution C G downstream_gene_variant SKCA-BR 14 31568807 31568807 insertion of <=200bp - GAA downstream_gene_variant SKCA-BR 14 31580620 31580620 single base substitution A C downstream_gene_variant SKCA-BR 14 31580620 31580620 single base substitution A C intron_variant SKCA-BR 14 31586595 31586595 single base substitution A T downstream_gene_variant SKCA-BR 14 31586595 31586595 single base substitution A T intron_variant SKCA-BR 14 31586595 31586595 single base substitution A T upstream_gene_variant SKCA-BR 14 31588598 31588598 single base substitution G A downstream_gene_variant SKCA-BR 14 31588598 31588598 single base substitution G A intron_variant SKCA-BR 14 31588598 31588598 single base substitution G A upstream_gene_variant SKCA-BR 14 31589290 31589290 single base substitution C T intron_variant SKCA-BR 14 31590027 31590027 single base substitution G A intron_variant SKCA-BR 14 31591469 31591469 insertion of <=200bp - CGT intron_variant SKCA-BR 14 31591469 31591469 insertion of <=200bp - CGT upstream_gene_variant SKCA-BR 14 31592652 31592652 single base substitution G A downstream_gene_variant SKCA-BR 14 31592652 31592652 single base substitution G A exon_variant SKCA-BR 14 31592652 31592652 single base substitution G A intron_variant SKCA-BR 14 31592652 31592652 single base substitution G A upstream_gene_variant SKCA-BR 14 31593056 31593056 single base substitution C T downstream_gene_variant SKCA-BR 14 31593056 31593056 single base substitution C T intron_variant SKCA-BR 14 31593056 31593056 single base substitution C T upstream_gene_variant SKCA-BR 14 31594320 31594320 single base substitution A T downstream_gene_variant SKCA-BR 14 31594320 31594320 single base substitution A T intron_variant SKCA-BR 14 31594320 31594320 single base substitution A T upstream_gene_variant SKCA-BR 14 31596258 31596258 single base substitution A C downstream_gene_variant SKCA-BR 14 31596258 31596258 single base substitution A C intron_variant SKCA-BR 14 31596258 31596258 single base substitution A C upstream_gene_variant SKCA-BR 14 31596264 31596264 single base substitution A C downstream_gene_variant SKCA-BR 14 31596264 31596264 single base substitution A C intron_variant SKCA-BR 14 31596264 31596264 single base substitution A C upstream_gene_variant SKCA-BR 14 31598018 31598018 single base substitution G A intron_variant SKCA-BR 14 31598018 31598018 single base substitution G A missense_variant S1520F 4559C>T SKCA-BR 14 31598018 31598018 single base substitution G A missense_variant S947F 2840C>T SKCA-BR 14 31598018 31598018 single base substitution G A upstream_gene_variant SKCA-BR 14 31598182 31598182 single base substitution G A intron_variant SKCA-BR 14 31598182 31598182 single base substitution G A synonymous_variant G1465G 4395C>T SKCA-BR 14 31598182 31598182 single base substitution G A synonymous_variant G892G 2676C>T SKCA-BR 14 31598182 31598182 single base substitution G A upstream_gene_variant SKCA-BR 14 31603771 31603775 deletion of <=200bp TGTGC - downstream_gene_variant SKCA-BR 14 31603771 31603775 deletion of <=200bp TGTGC - intron_variant SKCA-BR 14 31603773 31603775 deletion of <=200bp TGC - downstream_gene_variant SKCA-BR 14 31603773 31603775 deletion of <=200bp TGC - intron_variant SKCA-BR 14 31614808 31614808 single base substitution T G intron_variant SKCA-BR 14 31617349 31617349 insertion of <=200bp - GA intron_variant SKCA-BR 14 31621064 31621064 single base substitution G A intron_variant SKCA-BR 14 31630776 31630788 deletion of <=200bp CAAAAAAAAAGAA - intron_variant SKCA-BR 14 31635634 31635634 single base substitution G A intron_variant SKCA-BR 14 31645238 31645238 single base substitution G A downstream_gene_variant SKCA-BR 14 31645238 31645238 single base substitution G A intron_variant SKCA-BR 14 31645238 31645238 single base substitution G A upstream_gene_variant SKCA-BR 14 31645239 31645239 single base substitution G A downstream_gene_variant SKCA-BR 14 31645239 31645239 single base substitution G A intron_variant SKCA-BR 14 31645239 31645239 single base substitution G A upstream_gene_variant SKCA-BR 14 31652916 31652916 insertion of <=200bp - CT intron_variant SKCA-BR 14 31655882 31655882 single base substitution G A intron_variant SKCA-BR 14 31657221 31657221 single base substitution C T intron_variant SKCA-BR 14 31659995 31659995 single base substitution G A intron_variant SKCA-BR 14 31661422 31661422 single base substitution A G intron_variant SKCA-BR 14 31665243 31665243 single base substitution G A intron_variant SKCA-BR 14 31670669 31670669 single base substitution T A downstream_gene_variant SKCA-BR 14 31670669 31670669 single base substitution T A intron_variant SKCA-BR 14 31673129 31673129 single base substitution G C intron_variant SKCA-BR 14 31675124 31675124 single base substitution C T exon_variant SKCA-BR 14 31675124 31675124 single base substitution C T missense_variant D7N 19G>A SKCA-BR 14 31676904 31676904 single base substitution A G 5_prime_UTR_variant SKCA-BR 14 31676904 31676904 single base substitution A G exon_variant SKCA-BR 14 31676904 31676904 single base substitution A G upstream_gene_variant SKCA-BR 14 31681258 31681258 single base substitution A G upstream_gene_variant SKCM-US 14 31570189 31570189 single base substitution T A downstream_gene_variant SKCM-US 14 31570189 31570189 single base substitution T A exon_variant SKCM-US 14 31570189 31570189 single base substitution T A missense_variant M2594L 7780A>T SKCM-US 14 31570189 31570189 single base substitution T A missense_variant M959L 2875A>T SKCM-US 14 31570518 31570518 single base substitution C T downstream_gene_variant SKCM-US 14 31570518 31570518 single base substitution C T exon_variant SKCM-US 14 31570518 31570518 single base substitution C T synonymous_variant L2521L 7563G>A SKCM-US 14 31570518 31570518 single base substitution C T synonymous_variant L886L 2658G>A SKCM-US 14 31578782 31578782 single base substitution G A downstream_gene_variant SKCM-US 14 31578782 31578782 single base substitution G A exon_variant SKCM-US 14 31578782 31578782 single base substitution G A stop_gained R2101* 6301C>T SKCM-US 14 31578782 31578782 single base substitution G A stop_gained R466* 1396C>T SKCM-US 14 31578782 31578782 single base substitution G A upstream_gene_variant SKCM-US 14 31582641 31582641 single base substitution G A downstream_gene_variant SKCM-US 14 31582641 31582641 single base substitution G A exon_variant SKCM-US 14 31582641 31582641 single base substitution G A missense_variant S1396F 4187C>T SKCM-US 14 31582641 31582641 single base substitution G A missense_variant S1969F 5906C>T SKCM-US 14 31582641 31582641 single base substitution G A missense_variant S334F 1001C>T SKCM-US 14 31582641 31582641 single base substitution G A upstream_gene_variant SKCM-US 14 31583155 31583155 single base substitution G A downstream_gene_variant SKCM-US 14 31583155 31583155 single base substitution G A exon_variant SKCM-US 14 31583155 31583155 single base substitution G A synonymous_variant H1355H 4065C>T SKCM-US 14 31583155 31583155 single base substitution G A synonymous_variant H1928H 5784C>T SKCM-US 14 31583155 31583155 single base substitution G A synonymous_variant H293H 879C>T SKCM-US 14 31583155 31583155 single base substitution G A upstream_gene_variant SKCM-US 14 31598181 31598181 single base substitution G A intron_variant SKCM-US 14 31598181 31598181 single base substitution G A missense_variant P1466S 4396C>T SKCM-US 14 31598181 31598181 single base substitution G A missense_variant P893S 2677C>T SKCM-US 14 31598181 31598181 single base substitution G A upstream_gene_variant SKCM-US 14 31598187 31598187 single base substitution A G intron_variant SKCM-US 14 31598187 31598187 single base substitution A G synonymous_variant L1464L 4390T>C SKCM-US 14 31598187 31598187 single base substitution A G synonymous_variant L891L 2671T>C SKCM-US 14 31598187 31598187 single base substitution A G upstream_gene_variant SKCM-US 14 31598272 31598272 single base substitution G A intron_variant SKCM-US 14 31598272 31598272 single base substitution G A synonymous_variant V1435V 4305C>T SKCM-US 14 31598272 31598272 single base substitution G A synonymous_variant V862V 2586C>T SKCM-US 14 31598272 31598272 single base substitution G A upstream_gene_variant SKCM-US 14 31598524 31598524 single base substitution G A intron_variant SKCM-US 14 31598524 31598524 single base substitution G A synonymous_variant S1351S 4053C>T SKCM-US 14 31598524 31598524 single base substitution G A upstream_gene_variant SKCM-US 14 31602754 31602754 insertion of <=200bp - T downstream_gene_variant SKCM-US 14 31602754 31602754 insertion of <=200bp - T frameshift_variant L1236H? SKCM-US 14 31602754 31602754 insertion of <=200bp - T frameshift_variant L66H? SKCM-US 14 31602754 31602754 insertion of <=200bp - T frameshift_variant L710H? SKCM-US 14 31602754 31602754 insertion of <=200bp - T upstream_gene_variant SKCM-US 14 31604173 31604173 single base substitution A G downstream_gene_variant SKCM-US 14 31604173 31604173 single base substitution A G synonymous_variant S1161S 3483T>C SKCM-US 14 31604173 31604173 single base substitution A G synonymous_variant S635S 1905T>C SKCM-US 14 31604173 31604173 single base substitution A G upstream_gene_variant SKCM-US 14 31614085 31614085 single base substitution A T synonymous_variant R327R 981T>A SKCM-US 14 31614085 31614085 single base substitution A T synonymous_variant R853R 2559T>A SKCM-US 14 31619269 31619269 single base substitution G A synonymous_variant I171I 513C>T SKCM-US 14 31619269 31619269 single base substitution G A synonymous_variant I697I 2091C>T SKCM-US 14 31626090 31626090 single base substitution G A missense_variant P104S 310C>T SKCM-US 14 31626090 31626090 single base substitution G A missense_variant P630S 1888C>T SKCM-US 14 31626487 31626487 single base substitution G A stop_gained R23* 67C>T SKCM-US 14 31626487 31626487 single base substitution G A stop_gained R549* 1645C>T SKCM-US 14 31637529 31637529 single base substitution G A downstream_gene_variant SKCM-US 14 31637529 31637529 single base substitution G A stop_gained Q533* 1597C>T SKCM-US 14 31637529 31637529 single base substitution G A stop_gained Q7* 19C>T SKCM-US 14 31638563 31638563 single base substitution G A downstream_gene_variant SKCM-US 14 31638563 31638563 single base substitution G A missense_variant P482S 1444C>T SKCM-US 14 31638563 31638563 single base substitution G A upstream_gene_variant SKCM-US 14 31642629 31642629 single base substitution G A downstream_gene_variant SKCM-US 14 31642629 31642629 single base substitution G A exon_variant SKCM-US 14 31642629 31642629 single base substitution G A missense_variant L297F 889C>T SKCM-US 14 31642763 31642763 single base substitution T A downstream_gene_variant SKCM-US 14 31642763 31642763 single base substitution T A exon_variant SKCM-US 14 31642763 31642763 single base substitution T A missense_variant T285S 853A>T SKCM-US 14 31642962 31642962 single base substitution G A downstream_gene_variant SKCM-US 14 31642962 31642962 single base substitution G A exon_variant SKCM-US 14 31642962 31642962 single base substitution G A synonymous_variant T218T 654C>T STAD-US 14 31570424 31570424 single base substitution G C downstream_gene_variant STAD-US 14 31570424 31570424 single base substitution G C exon_variant STAD-US 14 31570424 31570424 single base substitution G C missense_variant L2553V 7657C>G STAD-US 14 31570424 31570424 single base substitution G C missense_variant L918V 2752C>G STAD-US 14 31574620 31574620 single base substitution C T downstream_gene_variant STAD-US 14 31574620 31574620 single base substitution C T exon_variant STAD-US 14 31574620 31574620 single base substitution C T synonymous_variant T2456T 7368G>A STAD-US 14 31574620 31574620 single base substitution C T synonymous_variant T821T 2463G>A STAD-US 14 31574620 31574620 single base substitution C T upstream_gene_variant STAD-US 14 31574621 31574621 single base substitution G A downstream_gene_variant STAD-US 14 31574621 31574621 single base substitution G A exon_variant STAD-US 14 31574621 31574621 single base substitution G A missense_variant T2456M 7367C>T STAD-US 14 31574621 31574621 single base substitution G A missense_variant T821M 2462C>T STAD-US 14 31574621 31574621 single base substitution G A upstream_gene_variant STAD-US 14 31575869 31575874 deletion of <=200bp AAGTGG - downstream_gene_variant STAD-US 14 31575869 31575874 deletion of <=200bp AAGTGG - exon_variant STAD-US 14 31575869 31575874 deletion of <=200bp AAGTGG - inframe_deletion PL2402 STAD-US 14 31575869 31575874 deletion of <=200bp AAGTGG - inframe_deletion PL767 STAD-US 14 31575869 31575874 deletion of <=200bp AAGTGG - upstream_gene_variant STAD-US 14 31575893 31575893 single base substitution A G downstream_gene_variant STAD-US 14 31575893 31575893 single base substitution A G exon_variant STAD-US 14 31575893 31575893 single base substitution A G synonymous_variant N2395N 7185T>C STAD-US 14 31575893 31575893 single base substitution A G synonymous_variant N760N 2280T>C STAD-US 14 31575893 31575893 single base substitution A G upstream_gene_variant STAD-US 14 31575967 31575967 single base substitution G A downstream_gene_variant STAD-US 14 31575967 31575967 single base substitution G A exon_variant STAD-US 14 31575967 31575967 single base substitution G A missense_variant R2371C 7111C>T STAD-US 14 31575967 31575967 single base substitution G A missense_variant R736C 2206C>T STAD-US 14 31575967 31575967 single base substitution G A upstream_gene_variant STAD-US 14 31575978 31575978 single base substitution G A downstream_gene_variant STAD-US 14 31575978 31575978 single base substitution G A exon_variant STAD-US 14 31575978 31575978 single base substitution G A missense_variant A2367V 7100C>T STAD-US 14 31575978 31575978 single base substitution G A missense_variant A732V 2195C>T STAD-US 14 31575978 31575978 single base substitution G A upstream_gene_variant STAD-US 14 31576889 31576891 deletion of <=200bp CTT - disruptive_inframe_deletion EG2167G STAD-US 14 31576889 31576891 deletion of <=200bp CTT - disruptive_inframe_deletion EG532G STAD-US 14 31576889 31576891 deletion of <=200bp CTT - downstream_gene_variant STAD-US 14 31576889 31576891 deletion of <=200bp CTT - exon_variant STAD-US 14 31576889 31576891 deletion of <=200bp CTT - upstream_gene_variant STAD-US 14 31581680 31581680 single base substitution G A downstream_gene_variant STAD-US 14 31581680 31581680 single base substitution G A exon_variant STAD-US 14 31581680 31581680 single base substitution G A synonymous_variant L2074L 6220C>T STAD-US 14 31581680 31581680 single base substitution G A synonymous_variant L439L 1315C>T STAD-US 14 31581680 31581680 single base substitution G A upstream_gene_variant STAD-US 14 31582679 31582679 single base substitution C T downstream_gene_variant STAD-US 14 31582679 31582679 single base substitution C T exon_variant STAD-US 14 31582679 31582679 single base substitution C T synonymous_variant E1383E 4149G>A STAD-US 14 31582679 31582679 single base substitution C T synonymous_variant E1956E 5868G>A STAD-US 14 31582679 31582679 single base substitution C T synonymous_variant E321E 963G>A STAD-US 14 31582679 31582679 single base substitution C T upstream_gene_variant STAD-US 14 31583209 31583209 single base substitution C A downstream_gene_variant STAD-US 14 31583209 31583209 single base substitution C A exon_variant STAD-US 14 31583209 31583209 single base substitution C A missense_variant K1337N 4011G>T STAD-US 14 31583209 31583209 single base substitution C A missense_variant K1910N 5730G>T STAD-US 14 31583209 31583209 single base substitution C A missense_variant K275N 825G>T STAD-US 14 31583209 31583209 single base substitution C A upstream_gene_variant STAD-US 14 31585523 31585523 single base substitution T C downstream_gene_variant STAD-US 14 31585523 31585523 single base substitution T C exon_variant STAD-US 14 31585523 31585523 single base substitution T C missense_variant Y1273C 3818A>G STAD-US 14 31585523 31585523 single base substitution T C missense_variant Y1846C 5537A>G STAD-US 14 31585523 31585523 single base substitution T C missense_variant Y211C 632A>G STAD-US 14 31585523 31585523 single base substitution T C upstream_gene_variant STAD-US 14 31588960 31588960 single base substitution C T downstream_gene_variant STAD-US 14 31588960 31588960 single base substitution C T exon_variant STAD-US 14 31588960 31588960 single base substitution C T missense_variant R1211H 3632G>A STAD-US 14 31588960 31588960 single base substitution C T missense_variant R149H 446G>A STAD-US 14 31588960 31588960 single base substitution C T missense_variant R1784H 5351G>A STAD-US 14 31590658 31590658 single base substitution C T 3_prime_UTR_variant STAD-US 14 31590658 31590658 single base substitution C T exon_variant STAD-US 14 31590658 31590658 single base substitution C T synonymous_variant T1150T 3450G>A STAD-US 14 31590658 31590658 single base substitution C T synonymous_variant T1723T 5169G>A STAD-US 14 31590658 31590658 single base substitution C T synonymous_variant T88T 264G>A STAD-US 14 31590701 31590701 single base substitution C T 3_prime_UTR_variant STAD-US 14 31590701 31590701 single base substitution C T exon_variant STAD-US 14 31590701 31590701 single base substitution C T missense_variant R1136H 3407G>A STAD-US 14 31590701 31590701 single base substitution C T missense_variant R1709H 5126G>A STAD-US 14 31590701 31590701 single base substitution C T missense_variant R74H 221G>A STAD-US 14 31592134 31592134 single base substitution A G 3_prime_UTR_variant STAD-US 14 31592134 31592134 single base substitution A G downstream_gene_variant STAD-US 14 31592134 31592134 single base substitution A G exon_variant STAD-US 14 31592134 31592134 single base substitution A G missense_variant Y1128H 3382T>C STAD-US 14 31592134 31592134 single base substitution A G missense_variant Y1701H 5101T>C STAD-US 14 31592134 31592134 single base substitution A G missense_variant Y68H 202T>C STAD-US 14 31592134 31592134 single base substitution A G upstream_gene_variant STAD-US 14 31592235 31592235 single base substitution C T 3_prime_UTR_variant STAD-US 14 31592235 31592235 single base substitution C T downstream_gene_variant STAD-US 14 31592235 31592235 single base substitution C T exon_variant STAD-US 14 31592235 31592235 single base substitution C T missense_variant R1094H 3281G>A STAD-US 14 31592235 31592235 single base substitution C T missense_variant R1667H 5000G>A STAD-US 14 31592235 31592235 single base substitution C T missense_variant R34H 101G>A STAD-US 14 31592235 31592235 single base substitution C T upstream_gene_variant STAD-US 14 31597063 31597063 single base substitution T C downstream_gene_variant STAD-US 14 31597063 31597063 single base substitution T C exon_variant STAD-US 14 31597063 31597063 single base substitution T C missense_variant T1064A 3190A>G STAD-US 14 31597063 31597063 single base substitution T C missense_variant T1637A 4909A>G STAD-US 14 31597063 31597063 single base substitution T C missense_variant T4A 10A>G STAD-US 14 31597063 31597063 single base substitution T C upstream_gene_variant STAD-US 14 31597105 31597105 single base substitution T C exon_variant STAD-US 14 31597105 31597105 single base substitution T C missense_variant T1050A 3148A>G STAD-US 14 31597105 31597105 single base substitution T C missense_variant T1623A 4867A>G STAD-US 14 31597105 31597105 single base substitution T C missense_variant T174A 520A>G STAD-US 14 31597105 31597105 single base substitution T C upstream_gene_variant STAD-US 14 31598572 31598572 single base substitution T C intron_variant STAD-US 14 31598572 31598572 single base substitution T C synonymous_variant A1335A 4005A>G STAD-US 14 31598572 31598572 single base substitution T C upstream_gene_variant STAD-US 14 31598579 31598579 single base substitution T C intron_variant STAD-US 14 31598579 31598579 single base substitution T C missense_variant K1333R 3998A>G STAD-US 14 31598579 31598579 single base substitution T C upstream_gene_variant STAD-US 14 31598602 31598602 single base substitution G A intron_variant STAD-US 14 31598602 31598602 single base substitution G A synonymous_variant G1325G 3975C>T STAD-US 14 31598602 31598602 single base substitution G A upstream_gene_variant STAD-US 14 31604296 31604296 single base substitution A G downstream_gene_variant STAD-US 14 31604296 31604296 single base substitution A G synonymous_variant R1120R 3360T>C STAD-US 14 31604296 31604296 single base substitution A G synonymous_variant R594R 1782T>C STAD-US 14 31604296 31604296 single base substitution A G upstream_gene_variant STAD-US 14 31604737 31604737 single base substitution G A downstream_gene_variant STAD-US 14 31604737 31604737 single base substitution G A missense_variant H1067Y 3199C>T STAD-US 14 31604737 31604737 single base substitution G A missense_variant H541Y 1621C>T STAD-US 14 31604737 31604737 single base substitution G A upstream_gene_variant STAD-US 14 31605831 31605831 single base substitution G A exon_variant STAD-US 14 31605831 31605831 single base substitution G A missense_variant P1007L 3020C>T STAD-US 14 31605831 31605831 single base substitution G A missense_variant P481L 1442C>T STAD-US 14 31605831 31605831 single base substitution G A upstream_gene_variant STAD-US 14 31613392 31613392 single base substitution C A missense_variant K375N 1125G>T STAD-US 14 31613392 31613392 single base substitution C A missense_variant K901N 2703G>T STAD-US 14 31614149 31614149 single base substitution T C splice_acceptor_variant STAD-US 14 31619373 31619373 single base substitution A G missense_variant W137R 409T>C STAD-US 14 31619373 31619373 single base substitution A G missense_variant W663R 1987T>C STAD-US 14 31626445 31626459 deletion of <=200bp CTTCTTTTAACAGTG - disruptive_inframe_deletion ALLKEV32V STAD-US 14 31626445 31626459 deletion of <=200bp CTTCTTTTAACAGTG - disruptive_inframe_deletion ALLKEV558V STAD-US 14 31637631 31637631 single base substitution C T downstream_gene_variant STAD-US 14 31637631 31637631 single base substitution C T missense_variant D499N 1495G>A STAD-US 14 31637631 31637631 single base substitution C T upstream_gene_variant STAD-US 14 31638663 31638663 single base substitution C T downstream_gene_variant STAD-US 14 31638663 31638663 single base substitution C T synonymous_variant R448R 1344G>A STAD-US 14 31638663 31638663 single base substitution C T upstream_gene_variant STAD-US 14 31641112 31641112 single base substitution T C downstream_gene_variant STAD-US 14 31641112 31641112 single base substitution T C synonymous_variant S429S 1287A>G STAD-US 14 31641112 31641112 single base substitution T C upstream_gene_variant THCA-SA 14 31582526 31582526 single base substitution T C downstream_gene_variant THCA-SA 14 31582526 31582526 single base substitution T C exon_variant THCA-SA 14 31582526 31582526 single base substitution T C synonymous_variant L1434L 4302A>G THCA-SA 14 31582526 31582526 single base substitution T C synonymous_variant L2007L 6021A>G THCA-SA 14 31582526 31582526 single base substitution T C synonymous_variant L372L 1116A>G THCA-SA 14 31582526 31582526 single base substitution T C upstream_gene_variant THCA-SA 14 31583512 31583512 single base substitution C T downstream_gene_variant THCA-SA 14 31583512 31583512 single base substitution C T exon_variant THCA-SA 14 31583512 31583512 single base substitution C T missense_variant E1312K 3934G>A THCA-SA 14 31583512 31583512 single base substitution C T missense_variant E1885K 5653G>A THCA-SA 14 31583512 31583512 single base substitution C T missense_variant E250K 748G>A THCA-SA 14 31583512 31583512 single base substitution C T upstream_gene_variant THCA-SA 14 31647241 31647241 single base substitution G A downstream_gene_variant THCA-SA 14 31647241 31647241 single base substitution G A synonymous_variant A120A 360C>T THCA-SA 14 31647241 31647241 single base substitution G A upstream_gene_variant THCA-SA 14 31647439 31647439 single base substitution T C exon_variant THCA-SA 14 31647439 31647439 single base substitution T C synonymous_variant L54L 162A>G THCA-SA 14 31647439 31647439 single base substitution T C upstream_gene_variant THCA-SA 14 31647448 31647448 single base substitution G A exon_variant THCA-SA 14 31647448 31647448 single base substitution G A synonymous_variant R51R 153C>T THCA-SA 14 31647448 31647448 single base substitution G A upstream_gene_variant UCEC-US 14 31572204 31572204 single base substitution G T exon_variant UCEC-US 14 31572204 31572204 single base substitution G T missense_variant L2490I 7468C>A UCEC-US 14 31572204 31572204 single base substitution G T missense_variant L855I 2563C>A UCEC-US 14 31572204 31572204 single base substitution G T upstream_gene_variant UCEC-US 14 31575871 31575871 single base substitution G A downstream_gene_variant UCEC-US 14 31575871 31575871 single base substitution G A exon_variant UCEC-US 14 31575871 31575871 single base substitution G A missense_variant L2403F 7207C>T UCEC-US 14 31575871 31575871 single base substitution G A missense_variant L768F 2302C>T UCEC-US 14 31575871 31575871 single base substitution G A upstream_gene_variant UCEC-US 14 31576352 31576352 single base substitution C T downstream_gene_variant UCEC-US 14 31576352 31576352 single base substitution C T exon_variant UCEC-US 14 31576352 31576352 single base substitution C T synonymous_variant T2242T 6726G>A UCEC-US 14 31576352 31576352 single base substitution C T synonymous_variant T607T 1821G>A UCEC-US 14 31576352 31576352 single base substitution C T upstream_gene_variant UCEC-US 14 31578713 31578713 single base substitution G A downstream_gene_variant UCEC-US 14 31578713 31578713 single base substitution G A exon_variant UCEC-US 14 31578713 31578713 single base substitution G A stop_gained R2124* 6370C>T UCEC-US 14 31578713 31578713 single base substitution G A stop_gained R489* 1465C>T UCEC-US 14 31578713 31578713 single base substitution G A upstream_gene_variant UCEC-US 14 31582497 31582497 single base substitution C A downstream_gene_variant UCEC-US 14 31582497 31582497 single base substitution C A exon_variant UCEC-US 14 31582497 31582497 single base substitution C A missense_variant R1444I 4331G>T UCEC-US 14 31582497 31582497 single base substitution C A missense_variant R2017I 6050G>T UCEC-US 14 31582497 31582497 single base substitution C A missense_variant R382I 1145G>T UCEC-US 14 31582497 31582497 single base substitution C A upstream_gene_variant UCEC-US 14 31585572 31585572 single base substitution G A downstream_gene_variant UCEC-US 14 31585572 31585572 single base substitution G A exon_variant UCEC-US 14 31585572 31585572 single base substitution G A missense_variant R1257C 3769C>T UCEC-US 14 31585572 31585572 single base substitution G A missense_variant R1830C 5488C>T UCEC-US 14 31585572 31585572 single base substitution G A missense_variant R195C 583C>T UCEC-US 14 31585572 31585572 single base substitution G A upstream_gene_variant UCEC-US 14 31590627 31590627 single base substitution C G 3_prime_UTR_variant UCEC-US 14 31590627 31590627 single base substitution C G exon_variant UCEC-US 14 31590627 31590627 single base substitution C G missense_variant V1161L 3481G>C UCEC-US 14 31590627 31590627 single base substitution C G missense_variant V1734L 5200G>C UCEC-US 14 31590627 31590627 single base substitution C G missense_variant V99L 295G>C UCEC-US 14 31592198 31592198 single base substitution C A 3_prime_UTR_variant UCEC-US 14 31592198 31592198 single base substitution C A downstream_gene_variant UCEC-US 14 31592198 31592198 single base substitution C A exon_variant UCEC-US 14 31592198 31592198 single base substitution C A missense_variant E1106D 3318G>T UCEC-US 14 31592198 31592198 single base substitution C A missense_variant E1679D 5037G>T UCEC-US 14 31592198 31592198 single base substitution C A missense_variant E46D 138G>T UCEC-US 14 31592198 31592198 single base substitution C A upstream_gene_variant UCEC-US 14 31598583 31598583 single base substitution G T intron_variant UCEC-US 14 31598583 31598583 single base substitution G T missense_variant L1332I 3994C>A UCEC-US 14 31598583 31598583 single base substitution G T upstream_gene_variant UCEC-US 14 31602757 31602757 single base substitution C T downstream_gene_variant UCEC-US 14 31602757 31602757 single base substitution C T missense_variant E1235K 3703G>A UCEC-US 14 31602757 31602757 single base substitution C T missense_variant E65K 193G>A UCEC-US 14 31602757 31602757 single base substitution C T missense_variant E709K 2125G>A UCEC-US 14 31602757 31602757 single base substitution C T upstream_gene_variant UCEC-US 14 31604111 31604111 single base substitution G A downstream_gene_variant UCEC-US 14 31604111 31604111 single base substitution G A missense_variant T1182I 3545C>T UCEC-US 14 31604111 31604111 single base substitution G A missense_variant T12I 35C>T UCEC-US 14 31604111 31604111 single base substitution G A missense_variant T656I 1967C>T UCEC-US 14 31604752 31604752 single base substitution T G exon_variant UCEC-US 14 31604752 31604752 single base substitution T G missense_variant N1062H 3184A>C UCEC-US 14 31604752 31604752 single base substitution T G missense_variant N536H 1606A>C UCEC-US 14 31604752 31604752 single base substitution T G upstream_gene_variant UCEC-US 14 31609180 31609180 single base substitution C T downstream_gene_variant UCEC-US 14 31609180 31609180 single base substitution C T missense_variant R440Q 1319G>A UCEC-US 14 31609180 31609180 single base substitution C T missense_variant R966Q 2897G>A UCEC-US 14 31609180 31609180 single base substitution C T upstream_gene_variant UCEC-US 14 31613289 31613289 single base substitution T G downstream_gene_variant UCEC-US 14 31613289 31613289 single base substitution T G intron_variant UCEC-US 14 31618216 31618216 single base substitution G A missense_variant A243V 728C>T UCEC-US 14 31618216 31618216 single base substitution G A missense_variant A769V 2306C>T UCEC-US 14 31618223 31618223 single base substitution C A stop_gained E241* 721G>T UCEC-US 14 31618223 31618223 single base substitution C A stop_gained E767* 2299G>T UCEC-US 14 31618328 31618328 single base substitution G A stop_gained R206* 616C>T UCEC-US 14 31618328 31618328 single base substitution G A stop_gained R732* 2194C>T UCEC-US 14 31618360 31618360 single base substitution C T missense_variant R195Q 584G>A UCEC-US 14 31618360 31618360 single base substitution C T missense_variant R721Q 2162G>A UCEC-US 14 31619420 31619420 single base substitution T C missense_variant E121G 362A>G UCEC-US 14 31619420 31619420 single base substitution T C missense_variant E647G 1940A>G UCEC-US 14 31637506 31637506 single base substitution T C downstream_gene_variant UCEC-US 14 31637506 31637506 single base substitution T C missense_variant I14M 42A>G UCEC-US 14 31637506 31637506 single base substitution T C missense_variant I540M 1620A>G UCEC-US 14 31641083 31641083 single base substitution C A downstream_gene_variant UCEC-US 14 31641083 31641083 single base substitution C A missense_variant R439I 1316G>T UCEC-US 14 31641083 31641083 single base substitution C A upstream_gene_variant UCEC-US 14 31641303 31641303 single base substitution A G downstream_gene_variant UCEC-US 14 31641303 31641303 single base substitution A G synonymous_variant D394D 1182T>C UCEC-US 14 31641303 31641303 single base substitution A G upstream_gene_variant UCEC-US 14 31647263 31647263 single base substitution T C downstream_gene_variant UCEC-US 14 31647263 31647263 single base substitution T C missense_variant N113S 338A>G UCEC-US 14 31647263 31647263 single base substitution T C upstream_gene_variant UCEC-US 14 31647287 31647287 single base substitution C T exon_variant UCEC-US 14 31647287 31647287 single base substitution C T missense_variant R105H 314G>A UCEC-US 14 31647287 31647287 single base substitution C T upstream_gene_variant UCEC-US 14 31647385 31647385 single base substitution C T exon_variant UCEC-US 14 31647385 31647385 single base substitution C T synonymous_variant E72E 216G>A UCEC-US 14 31647385 31647385 single base substitution C T upstream_gene_variant UCEC-US 14 31647417 31647417 single base substitution G T exon_variant UCEC-US 14 31647417 31647417 single base substitution G T missense_variant L62I 184C>A UCEC-US 14 31647417 31647417 single base substitution G T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HCC76 COSM3706238 c.6392A>G p.E2131G Substitution - Missense 14:31109485-31109485 - CRC-17T COSM3753933 c.6321G>A p.E2107E Substitution - coding silent 14:31109556-31109556 - CLL008 COSM1290285 c.718A>G p.M240V Substitution - Missense 14:31173692-31173692 - CPCG0099-P1 COSM3396189 c.4421G>C p.G1474A Substitution - Missense 14:31128950-31128950 - TCGA-BR-8680-01 COSM4050483 c.1287A>G p.S429S Substitution - coding silent 14:31171906-31171906 - TCGA-DK-A3WW-01 COSM3793654 c.3629G>T p.W1210L Substitution - Missense 14:31133625-31133625 - TCGA-AX-A0J0-01 COSM955275 c.184C>A p.L62I Substitution - Missense 14:31178211-31178211 - ESO-717 COSM1242341 c.5350C>T p.R1784C Substitution - Missense 14:31119755-31119755 - TCGA-BS-A0UV-01 COSM955256 c.6050G>T p.R2017I Substitution - Missense 14:31113291-31113291 - HCC2998 COSM2194885 c.768A>C p.P256P Substitution - coding silent 14:31173642-31173642 - T10 COSM5618740 c.162A>G p.L54L Substitution - coding silent 14:31178233-31178233 - CAL27 COSM4591840 c.6080T>C p.L2027P Substitution - Missense S02065 COSM5672598 c.5443C>T p.P1815S Substitution - Missense 14:31116411-31116411 - HCC054T COSM5809623 c.1572A>T p.L524F Substitution - Missense 14:31168348-31168348 - RW7213 COSM4649878 c.2757A>G p.A919A Substitution - coding silent 14:31144132-31144132 - TCGA-ER-A19G-06 COSM3495670 c.4396C>T p.P1466S Substitution - Missense 14:31128975-31128975 - TCGA-61-1895-01 COSM1323515 c.3163C>T p.R1055* Substitution - Nonsense 14:31135567-31135567 - 100912 COSM94442 c.1180G>C p.D394H Substitution - Missense 14:31172099-31172099 - TCGA-ER-A19P-06 COSM3495679 c.1444C>T p.P482S Substitution - Missense 14:31169357-31169357 - CHC1715T COSM4789462 c.3041A>T p.D1014V Substitution - Missense 14:31136604-31136604 - HCT15 COSM2194780 c.5951C>A p.P1984H Substitution - Missense 14:31113390-31113390 - TCGA-CU-A3YL-01 COSM3793656 c.2728G>C p.E910Q Substitution - Missense 14:31144161-31144161 - TCGA-AP-A056-01 COSM955267 c.2162G>A p.R721Q Substitution - Missense 14:31149154-31149154 - TCGA-13-0714-01 COSM77838 c.6368T>A p.F2123Y Substitution - Missense 14:31109509-31109509 - PD4106a COSM161491 c.1407A>T p.E469D Substitution - Missense 14:31169394-31169394 - TCGA-B5-A0JV-01 COSM955257 c.5488C>T p.R1830C Substitution - Missense 14:31116366-31116366 - LU-1991 COSM5614112 c.935G>T p.G312V Substitution - Missense 14:31173377-31173377 - TCGA-B6-A0RG-01 COSM432999 c.4696C>G p.L1566V Substitution - Missense 14:31128675-31128675 - B101-Tumor COSM1748808 c.1825G>C p.D609H Substitution - Missense 14:31156947-31156947 - 61 COSM5740069 c.6323G>A p.R2108Q Substitution - Missense 14:31109554-31109554 - 2492722 COSM5722180 c.399T>G p.R133R Substitution - coding silent 14:31175115-31175115 - TCGA-BR-8078-01 COSM1477525 c.7368G>A p.T2456T Substitution - coding silent 14:31105414-31105414 - TCGA-BR-4184-01 COSM4050475 c.3360T>C p.R1120R Substitution - coding silent 14:31135090-31135090 - TCGA-F5-6814-01 COSM3419766 c.1633C>A p.L545I Substitution - Missense 14:31157293-31157293 - WSU-HN12 COSM4591840 c.6080T>C p.L2027P Substitution - Missense LOVO COSM1242342 c.6121delA p.I2041fs*27 Deletion - Frameshift 14:31113133-31113133 - TCGA-DK-A3IU-01 COSM3793651 c.7147G>A p.E2383K Substitution - Missense 14:31106725-31106725 - BD124T COSM5493151 c.3755C>T p.A1252V Substitution - Missense 14:31133405-31133405 - HCC60 COSM1607601 c.2979+7A>G p.? Unknown 14:31139885-31139885 - MAVER-1 COSM1740940 c.5239_5241delGAA p.E1750delE Deletion - In frame 14:31119864-31119866 - TCGA-CG-5721-01 COSM4050472 c.4867A>G p.T1623A Substitution - Missense 14:31127899-31127899 - TCGA-EE-A3J5-06 COSM3495674 c.3483T>C p.S1161S Substitution - coding silent 14:31134967-31134967 - TCGA-AA-A010-01 COSM281657 c.7044C>T p.D2348D Substitution - coding silent 14:31106828-31106828 - SNUH_G10_S1 COSM3999248 c.4276A>G p.I1426V Substitution - Missense 14:31129095-31129095 - TCGA-AG-A00C-01 COSM5071703 c.6481-2A>G p.? Unknown 14:31107706-31107706 - BD20T COSM5517889 c.1241T>G p.F414C Substitution - Missense 14:31171952-31171952 - SNUH_G45_S1 COSM3999250 c.153C>T p.R51R Substitution - coding silent 14:31178242-31178242 - UPCI:SCC090 COSM4591840 c.6080T>C p.L2027P Substitution - Missense BICR_22 COSM4591840 c.6080T>C p.L2027P Substitution - Missense I2L-P19Ta-Tumor-Organoid COSM5362463 c.2249C>A p.P750H Substitution - Missense 14:31149067-31149067 - NB07C COSM1236434 c.6388C>A p.H2130N Substitution - Missense 14:31109489-31109489 - TCGA-63-5131-01 COSM697977 c.3868G>C p.D1290H Substitution - Missense 14:31133292-31133292 - MO_1162 COSM5568780 c.2143T>A p.S715T Substitution - Missense 14:31150011-31150011 - TCGA-EK-A3GK-01 COSM4852888 c.4386G>A p.R1462R Substitution - coding silent 14:31128985-31128985 - T3174 COSM4689893 c.6402A>C p.K2134N Substitution - Missense 14:31109475-31109475 - SC_9083 COSM5553097 c.6960A>T p.E2320D Substitution - Missense 14:31106912-31106912 - TCGA-F5-6814-01 COSM3419765 c.4893T>C p.G1631G Substitution - coding silent 14:31127873-31127873 - 587376 COSM1209474 c.7601A>C p.E2534A Substitution - Missense 14:31101274-31101274 - TCGA-BR-4201-01 COSM2194793 c.5351G>A p.R1784H Substitution - Missense 14:31119754-31119754 - 2492729 COSM5725661 c.2316T>C p.N772N Substitution - coding silent 14:31149000-31149000 - sysucc-1315T COSM5480100 c.151C>T p.R51C Substitution - Missense 14:31178244-31178244 - T3024 COSM4689891 c.7586G>T p.G2529V Substitution - Missense 14:31101289-31101289 - PT37 COSM5920684 c.1447+3G>T p.? Unknown 14:31169351-31169351 - CSCC-27-T COSM4488499 c.3339C>T p.R1113R Substitution - coding silent 14:31135111-31135111 - PT37 COSM5920685 c.1333-6C>T p.? Unknown 14:31169474-31169474 - T3091 COSM1242342 c.6121delA p.I2041fs*27 Deletion - Frameshift 14:31113133-31113133 - 587376 COSM1209478 c.4097A>G p.N1366S Substitution - Missense 14:31129274-31129274 - CSCC-10-T COSM4544447 c.3577G>A p.G1193R Substitution - Missense 14:31134873-31134873 - CAL33 COSM4591840 c.6080T>C p.L2027P Substitution - Missense EGC3 COSM5053915 c.125A>G p.D42G Substitution - Missense 14:31205812-31205812 - SW403 COSM4245245 c.476A>G p.H159R Substitution - Missense 14:31175038-31175038 - SNUH_G76_S1 COSM3999249 c.2496+8T>C p.? Unknown 14:31148713-31148713 - MINO COSM1740065 c.6052A>C p.I2018L Substitution - Missense 14:31113289-31113289 - sysucc-311T COSM5478675 c.4623A>C p.E1541D Substitution - Missense 14:31128748-31128748 - TCGA-AM-5821-01 COSM3753934 c.1968A>G p.Q656Q Substitution - coding silent 14:31150186-31150186 - TCGA-EE-A3JH-06 COSM3495681 c.853A>T p.T285S Substitution - Missense 14:31173557-31173557 - GHE0609 COSM5714140 c.7306-8T>C p.? Unknown 14:31105484-31105484 - TCGA-JX-A3Q0-01 COSM4824140 c.538C>G p.Q180E Substitution - Missense 14:31174976-31174976 - TCGA-BS-A0UF-01 COSM955274 c.216G>A p.E72E Substitution - coding silent 14:31178179-31178179 - TCGA-BS-A0UF-01 COSM955254 c.6726G>A p.T2242T Substitution - coding silent 14:31107146-31107146 - TCGA-EB-A41A-01 COSM3495668 c.5906C>T p.S1969F Substitution - Missense 14:31113435-31113435 - 2492723 COSM5722180 c.399T>G p.R133R Substitution - coding silent 14:31175115-31175115 - 35M COSM2194828 c.3783G>A p.R1261R Substitution - coding silent 14:31133377-31133377 - RW7213 COSM4649879 c.885T>C p.H295H Substitution - coding silent 14:31173525-31173525 - CSCC-31-T COSM4498377 c.5194C>T p.P1732S Substitution - Missense 14:31121427-31121427 - 116 COSM5012751 c.1683A>C p.K561N Substitution - Missense 14:31157243-31157243 - KYSE510 COSM2194812 c.4532C>T p.S1511L Substitution - Missense 14:31128839-31128839 - LIM2551 COSM4643833 c.439G>A p.V147M Substitution - Missense 14:31175075-31175075 - BZ36 COSM5759184 c.2627G>C p.R876T Substitution - Missense 14:31144811-31144811 - Gp5D COSM2194784 c.5779C>T p.R1927C Substitution - Missense 14:31113954-31113954 - sysucc-311T COSM5478674 c.6475C>A p.L2159I Substitution - Missense 14:31109402-31109402 - CHC892T COSM4796963 c.1631G>A p.S544N Substitution - Missense 14:31157295-31157295 - TCGA-29-1764-01 COSM1323514 c.148C>A p.P50T Substitution - Missense 14:31178247-31178247 - TCGA-CM-5861-01 COSM1369527 c.5169G>A p.T1723T Substitution - coding silent 14:31121452-31121452 - TCGA-BT-A2LA-01 COSM1300560 c.7291A>T p.S2431C Substitution - Missense 14:31105604-31105604 - Gp2D COSM2194784 c.5779C>T p.R1927C Substitution - Missense 14:31113954-31113954 - HCC086T COSM5813119 c.1023T>G p.S341S Substitution - coding silent 14:31173289-31173289 - TCGA-CD-A4MG-01 COSM4050476 c.3199C>T p.H1067Y Substitution - Missense 14:31135531-31135531 - DLD1 COSM2194851 c.2133G>A p.P711P Substitution - coding silent 14:31150021-31150021 - PD11369a COSM5789948 c.4737G>C p.G1579G Substitution - coding silent 14:31128634-31128634 - TCGA-DK-A3IU-01 COSM3793653 c.4191C>T p.I1397I Substitution - coding silent 14:31129180-31129180 - CSCC-56-T COSM4487104 c.313C>T p.R105C Substitution - Missense 14:31178082-31178082 - 2250203 COSM5029840 c.5371A>G p.T1791A Substitution - Missense 14:31119734-31119734 - CSCC-16-T COSM4497353 c.4957C>G p.Q1653E Substitution - Missense 14:31127809-31127809 - ESCC_BICR_040T COSM5429865 c.4894C>G p.Q1632E Substitution - Missense 14:31127872-31127872 - LS180 COSM2194760 c.7787A>G p.E2596G Substitution - Missense 14:31100976-31100976 - SW620 COSM2194863 c.1581G>A p.V527V Substitution - coding silent 14:31168339-31168339 - 8044436 COSM3386514 c.637C>T p.L213L Substitution - coding silent 14:31173773-31173773 - TCGA-IA-A40Y-01 COSM3987618 c.5918G>A p.S1973N Substitution - Missense 14:31113423-31113423 - PT34 COSM5910831 c.6572G>A p.G2191E Substitution - Missense 14:31107613-31107613 - PD5935a COSM5771936 c.3917A>T p.H1306L Substitution - Missense 14:31133243-31133243 - HX15T COSM1607597 c.6031G>C p.A2011P Substitution - Missense 14:31113310-31113310 - ESCC-F32 COSM5047531 c.790C>T p.P264S Substitution - Missense 14:31173620-31173620 - PT21_2 COSM5901865 c.2060C>T p.S687F Substitution - Missense 14:31150094-31150094 - UD-SCC-2 COSM4591840 c.6080T>C p.L2027P Substitution - Missense TCGA-EE-A2M5-06 COSM3495666 c.7563G>A p.L2521L Substitution - coding silent 14:31101312-31101312 - YULONE COSM5382200 c.5276G>A p.R1759K Substitution - Missense 14:31119829-31119829 - TCGA-AM-5821-01 COSM1562663 c.6021A>G p.L2007L Substitution - coding silent 14:31113320-31113320 - TCGA-D1-A17Q-01 COSM955270 c.1316G>T p.R439I Substitution - Missense 14:31171877-31171877 - CSCC-57-T COSM4511476 c.869C>T p.S290F Substitution - Missense 14:31173541-31173541 - 70 COSM5744388 c.5787G>C p.W1929C Substitution - Missense 14:31113946-31113946 - SA065 COSM213136 c.6934G>A p.D2312N Substitution - Missense 14:31106938-31106938 - TCGA-FG-A4MU-01 COSM3968782 c.6741C>T p.F2247F Substitution - coding silent 14:31107131-31107131 - TCGA-BR-8687-01 COSM4050481 c.1495G>A p.D499N Substitution - Missense 14:31168425-31168425 - TCGA-D1-A17U-01 COSM955259 c.5037G>T p.E1679D Substitution - Missense 14:31122992-31122992 - TCGA-GN-A266-06 COSM3495673 c.4053C>T p.S1351S Substitution - coding silent 14:31129318-31129318 - SNUH_G76_S1 COSM3999250 c.153C>T p.R51R Substitution - coding silent 14:31178242-31178242 - TCGA-G4-6299-01 COSM1369531 c.3800G>A p.R1267H Substitution - Missense 14:31133360-31133360 - 529 COSM5612257 c.2200C>A p.Q734K Substitution - Missense 14:31149116-31149116 - TCGA-AZ-4315-01 COSM1369525 c.5899G>A p.A1967T Substitution - Missense 14:31113442-31113442 - COLO201 COSM4621296 c.874G>A p.V292I Substitution - Missense 14:31173536-31173536 - B82 COSM1748806 c.2938C>G p.L980V Substitution - Missense 14:31139933-31139933 - TCGA-BQ-7058-01 COSM3987619 c.4199G>T p.G1400V Substitution - Missense 14:31129172-31129172 - BN50T COSM1607601 c.2979+7A>G p.? Unknown 14:31139885-31139885 - TCGA-CM-5861-01 COSM1369533 c.2012_2013insG p.R672fs*9 Insertion - Frameshift 14:31150141-31150142 - TCGA-P5-A5EV-01 COSM4420348 c.5882C>G p.S1961C Substitution - Missense 14:31113459-31113459 - RK282_C01 COSM4964029 c.6386A>T p.K2129M Substitution - Missense 14:31109491-31109491 - ESO-717 COSM1242342 c.6121delA p.I2041fs*27 Deletion - Frameshift 14:31113133-31113133 - sysucc-863T COSM5765234 c.5084A>G p.N1695S Substitution - Missense 14:31122945-31122945 - BN50 COSM1607601 c.2979+7A>G p.? Unknown 14:31139885-31139885 - TCGA-AP-A056-01 COSM955261 c.3703G>A p.E1235K Substitution - Missense 14:31133551-31133551 - B86 COSM1748809 c.595G>A p.D199N Substitution - Missense 14:31174919-31174919 - LUAD-NYU508 COSM374769 c.5431T>C p.C1811R Substitution - Missense 14:31116423-31116423 - sysucc-1397T COSM3419764 c.5428G>A p.E1810K Substitution - Missense 14:31116426-31116426 - TCGA-A3-3372-01 COSM1135559 c.7067G>A p.R2356K Substitution - Missense 14:31106805-31106805 - ESO-859 COSM1239050 c.3975C>T p.G1325G Substitution - coding silent 14:31129396-31129396 - HT115 COSM2194841 c.2999G>A p.R1000Q Substitution - Missense 14:31136646-31136646 - T578 COSM4689897 c.3365A>G p.N1122S Substitution - Missense 14:31135085-31135085 - S02342 COSM5692535 c.1507G>C p.D503H Substitution - Missense 14:31168413-31168413 - T228 COSM4050467 c.5537A>G p.Y1846C Substitution - Missense 14:31116317-31116317 - TCGA-BR-8382-01 COSM4050480 c.1987T>C p.W663R Substitution - Missense 14:31150167-31150167 - TCGA-C8-A274-01 COSM1477528 c.3173G>A p.R1058K Substitution - Missense 14:31135557-31135557 - UM-SCC-2 COSM4591840 c.6080T>C p.L2027P Substitution - Missense 587376 COSM1209475 c.7231A>C p.N2411H Substitution - Missense 14:31105664-31105664 - SNUH_G15_S1 COSM3999249 c.2496+8T>C p.? Unknown 14:31148713-31148713 - 2492728 COSM5725661 c.2316T>C p.N772N Substitution - coding silent 14:31149000-31149000 - TCGA-AG-3892-01 COSM257097 c.7515T>G p.N2505K Substitution - Missense 14:31102951-31102951 - TCGA-AC-A23G-01 COSM281658 c.2621C>A p.T874K Substitution - Missense 14:31144817-31144817 - BN05 COSM1607600 c.2980A>G p.I994V Substitution - Missense 14:31136665-31136665 - PCSI_0073_Pa_X COSM1158581 c.2346A>G p.K782K Substitution - coding silent 14:31148970-31148970 - TCGA-18-3409-01 COSM697976 c.3336C>T p.G1112G Substitution - coding silent 14:31135114-31135114 - ESCC-D13 COSM5045361 c.7351G>C p.D2451H Substitution - Missense 14:31105431-31105431 - BD124T COSM5493152 c.1569G>A p.R523R Substitution - coding silent 14:31168351-31168351 - TCGA-41-3393-01 COSM3401287 c.82C>T p.L28F Substitution - Missense 14:31205855-31205855 - TCGA-D1-A17H-01 COSM955271 c.1182T>C p.D394D Substitution - coding silent 14:31172097-31172097 - 169T COSM1725817 c.1458G>T p.M486I Substitution - Missense 14:31168462-31168462 - TCGA-AN-A046-01 COSM3814673 c.5427C>T p.V1809V Substitution - coding silent 14:31116427-31116427 - KYSE510 COSM2194869 c.1342C>T p.R448W Substitution - Missense 14:31169459-31169459 - TCGA-AG-3902-01 COSM258786 c.2426A>T p.E809V Substitution - Missense 14:31148791-31148791 - pfg016T COSM1640070 c.2420-10delT p.? Unknown 14:31148807-31148807 - T96 COSM4689894 c.6379C>T p.R2127C Substitution - Missense 14:31109498-31109498 - TCGA-HT-7693-01 COSM3968783 c.5141G>A p.R1714H Substitution - Missense 14:31121480-31121480 - HN_62469 COSM123561 c.7648C>G p.P2550A Substitution - Missense 14:31101227-31101227 - PD4983a COSM5778432 c.7570G>A p.V2524M Substitution - Missense 14:31101305-31101305 - S00936 COSM311739 c.6833A>G p.D2278G Substitution - Missense 14:31107039-31107039 - UM-SCC-17B COSM4591840 c.6080T>C p.L2027P Substitution - Missense HCC68 COSM1607598 c.5231G>A p.G1744E Substitution - Missense 14:31121390-31121390 - TCGA-CG-5721-01 COSM4050471 c.4909A>G p.T1637A Substitution - Missense 14:31127857-31127857 - WSU-HN13 COSM4591840 c.6080T>C p.L2027P Substitution - Missense KYSE-510 COSM2194812 c.4532C>T p.S1511L Substitution - Missense 14:31128839-31128839 - TCGA-CK-5916-01 COSM3689925 c.3658A>G p.K1220E Substitution - Missense 14:31133596-31133596 - TCGA-AA-A010-01 COSM281658 c.2621C>A p.T874K Substitution - Missense 14:31144817-31144817 - RK308_C01 COSM3744303 c.5370A>G p.T1790T Substitution - coding silent 14:31119735-31119735 - C0092T COSM4150768 c.5383A>T p.I1795L Substitution - Missense 14:31119722-31119722 - TCGA-BG-A0VW-01 COSM955253 c.7207C>T p.L2403F Substitution - Missense 14:31106665-31106665 - TCGA-BR-8368-01 COSM4050478 c.2703G>T p.K901N Substitution - Missense 14:31144186-31144186 - TCGA-JX-A3Q0-01 COSM4824286 c.512C>T p.S171L Substitution - Missense 14:31175002-31175002 - 1_PRE-TREATMENT COSM185090 c.3004C>T p.R1002W Substitution - Missense 14:31136641-31136641 - TCGA-G2-A3IE-01 COSM1300562 c.2869G>A p.E957K Substitution - Missense 14:31141862-31141862 - TARGET-30-PARVLK COSM1285341 c.6618C>T p.H2206H Substitution - coding silent 14:31107567-31107567 - WSU-HN6 COSM4591840 c.6080T>C p.L2027P Substitution - Missense cSCCP4 COSM138929 c.2134G>A p.E712K Substitution - Missense 14:31150020-31150020 - TCGA-C5-A7UH-01 COSM4856646 c.4797G>T p.L1599F Substitution - Missense 14:31127969-31127969 - SCC-15 COSM4591840 c.6080T>C p.L2027P Substitution - Missense B22-Tumor COSM1748805 c.2980-2A>G p.? Unknown 14:31136667-31136667 - TCGA-B0-4707-01 COSM3361121 c.1662T>C p.F554F Substitution - coding silent 14:31157264-31157264 - TCGA-GI-A2C8-01 COSM1477527 c.4153A>C p.S1385R Substitution - Missense 14:31129218-31129218 - P07-837 COSM244884 c.4962A>G p.E1654E Substitution - coding silent 14:31127804-31127804 - TCGA-EI-6917-01 COSM3419764 c.5428G>A p.E1810K Substitution - Missense 14:31116426-31116426 - I2L-P19Tb-Tumor-Biopsy COSM2194819 c.4302C>T p.N1434N Substitution - coding silent 14:31129069-31129069 - LUAD-RT-S01477 COSM377459 c.3085G>C p.E1029Q Substitution - Missense 14:31136560-31136560 - TCGA-HU-A4G9-01 COSM4050470 c.5000G>A p.R1667H Substitution - Missense 14:31123029-31123029 - ESCC-F86 COSM5048904 c.5326C>T p.P1776S Substitution - Missense 14:31119779-31119779 - Pat_65_A COSM5848009 c.5424A>C p.E1808D Substitution - Missense 14:31116430-31116430 - S02246 COSM5678849 c.4391T>G p.L1464* Substitution - Nonsense 14:31128980-31128980 - TCGA-18-4083-01 COSM697974 c.949G>T p.V317L Substitution - Missense 14:31173363-31173363 - NPCPR14 COSM4995506 c.5743A>T p.T1915S Substitution - Missense 14:31113990-31113990 - TCGA-BP-5192-01 COSM469900 c.1782G>A p.L594L Substitution - coding silent 14:31156990-31156990 - YUKAT COSM5382198 c.6944C>T p.S2315L Substitution - Missense 14:31106928-31106928 - CRC-7 COSM304906 c.7690C>T p.R2564C Substitution - Missense 14:31101185-31101185 - T28 COSM3753933 c.6321G>A p.E2107E Substitution - coding silent 14:31109556-31109556 - TCGA-GN-A266-06 COSM3495680 c.889C>T p.L297F Substitution - Missense 14:31173423-31173423 - 2492729 COSM5726279 c.4640G>A p.S1547N Substitution - Missense 14:31128731-31128731 - TCGA-C5-A1MH-01 COSM4820827 c.6362G>A p.G2121E Substitution - Missense 14:31109515-31109515 - TCGA-DK-A1AC-01 COSM1300561 c.3618G>C p.E1206D Substitution - Missense 14:31133636-31133636 - HCC059T COSM5809751 c.2674G>A p.A892T Substitution - Missense 14:31144215-31144215 - TCGA-DK-A3WW-01 COSM3793650 c.7420C>G p.P2474A Substitution - Missense 14:31103046-31103046 - 587338 COSM1209473 c.1112G>A p.R371Q Substitution - Missense 14:31173200-31173200 - TCGA-AS-3778-01 COSM469898 c.5463G>T p.L1821F Substitution - Missense 14:31116391-31116391 - PCSI_0073_Pa_P COSM1158581 c.2346A>G p.K782K Substitution - coding silent 14:31148970-31148970 - TCGA-JW-A5VL-01 COSM4846768 c.2854G>A p.E952K Substitution - Missense 14:31141877-31141877 - TCGA-C8-A26Y-01 COSM3814675 c.1061G>A p.R354K Substitution - Missense 14:31173251-31173251 - TCGA-BR-8680-01 COSM4050466 c.5730G>T p.K1910N Substitution - Missense 14:31114003-31114003 - TCGA-AZ-4315-01 COSM1369530 c.4394G>A p.G1465D Substitution - Missense 14:31128977-31128977 - TCGA-CJ-4638-01 COSM469899 c.2701A>C p.K901Q Substitution - Missense 14:31144188-31144188 - TCGA-EE-A2GR-06 COSM3495665 c.7780A>T p.M2594L Substitution - Missense 14:31100983-31100983 - TCGA-AP-A051-01 COSM955260 c.3994C>A p.L1332I Substitution - Missense 14:31129377-31129377 - 2159 COSM5016441 c.2596_2599delTTAG p.L866fs*22 Deletion - Frameshift 14:31144839-31144842 - TCGA-EE-A181-06 COSM3495672 c.4305C>T p.V1435V Substitution - coding silent 14:31129066-31129066 - TCGA-DK-A3WW-01 COSM3793655 c.3616G>C p.E1206Q Substitution - Missense 14:31133638-31133638 - KYSE-510 COSM2194869 c.1342C>T p.R448W Substitution - Missense 14:31169459-31169459 - B70-Tumor COSM1756889 c.6736C>T p.H2246Y Substitution - Missense 14:31107136-31107136 - 93VU147T COSM4591840 c.6080T>C p.L2027P Substitution - Missense TCGA-BR-8680-01 COSM4050468 c.5126G>A p.R1709H Substitution - Missense 14:31121495-31121495 - TCGA-AG-A002-01 COSM261247 c.4139G>T p.S1380I Substitution - Missense 14:31129232-31129232 - 102T COSM1237795 c.7280A>C p.D2427A Substitution - Missense 14:31105615-31105615 - LP6005500-DNA_A02 COSM5033089 c.2632-1G>C p.? Unknown 14:31144258-31144258 - HCC76T COSM3706238 c.6392A>G p.E2131G Substitution - Missense 14:31109485-31109485 - CSCC-42-T COSM4496596 c.4789C>T p.P1597S Substitution - Missense 14:31127977-31127977 - HCC11T COSM1607599 c.3968G>C p.R1323P Substitution - Missense 14:31129403-31129403 - LUAD-NYU696 COSM376022 c.105T>G p.L35L Substitution - coding silent 14:31205832-31205832 - TCGA-CG-5718-01 COSM4050474 c.3998A>G p.K1333R Substitution - Missense 14:31129373-31129373 - UM-SCC-47 COSM4591840 c.6080T>C p.L2027P Substitution - Missense TCGA-HU-8602-01 COSM4050479 c.2497-2A>G p.? Unknown 14:31144943-31144943 - ccRCC-51 COSM1659410 c.3458G>T p.R1153L Substitution - Missense 14:31134992-31134992 - HCT8 COSM2194780 c.5951C>A p.P1984H Substitution - Missense 14:31113390-31113390 - KPOPBR-13-T COSM5963548 c.1905G>A p.E635E Substitution - coding silent 14:31156867-31156867 - Au3 COSM5601598 c.5684C>T p.S1895F Substitution - Missense 14:31114049-31114049 - TCGA-DM-A28K-01 COSM1369529 c.4944G>T p.E1648D Substitution - Missense 14:31127822-31127822 - B70 COSM1756889 c.6736C>T p.H2246Y Substitution - Missense 14:31107136-31107136 - S01453 COSM311740 c.176A>G p.K59R Substitution - Missense 14:31178219-31178219 - SJRHB056 COSM3738256 c.2603C>A p.S868* Substitution - Nonsense 14:31144835-31144835 - TCGA-EE-A20F-06 COSM3495669 c.5784C>T p.H1928H Substitution - coding silent 14:31113949-31113949 - TCGA-GV-A3JX-01 COSM1300563 c.1693G>A p.D565N Substitution - Missense 14:31157233-31157233 - TCGA-85-6561-01 COSM697979 c.6371G>T p.R2124L Substitution - Missense 14:31109506-31109506 - T2950 COSM4689892 c.6806C>T p.P2269L Substitution - Missense 14:31107066-31107066 - YUOMEGA COSM5382201 c.3103C>T p.L1035F Substitution - Missense 14:31136542-31136542 - TCGA-04-1367-01 COSM71036 c.5679C>G p.C1893W Substitution - Missense 14:31114054-31114054 - LUAD_E00623 COSM353854 c.295A>G p.I99V Substitution - Missense 14:31178100-31178100 - TCGA-B5-A0JY-01 COSM955265 c.2299G>T p.E767* Substitution - Nonsense 14:31149017-31149017 - 1N64-VS-1T64 COSM4978041 c.2744G>A p.G915D Substitution - Missense 14:31144145-31144145 - sysucc-1171T COSM5452710 c.258G>A p.A86A Substitution - coding silent 14:31178137-31178137 - 2334187 COSM320788 c.5245G>T p.E1749* Substitution - Nonsense 14:31119860-31119860 - TCGA-EW-A1P8-01 COSM1477526 c.6123T>G p.I2041M Substitution - Missense 14:31113131-31113131 - T3091 COSM4689900 c.345T>C p.T115T Substitution - coding silent 14:31178050-31178050 - RK065_C01 COSM1629271 c.3892G>A p.E1298K Substitution - Missense 14:31133268-31133268 - 30996 COSM4050467 c.5537A>G p.Y1846C Substitution - Missense 14:31116317-31116317 - 2293782 COSM4608517 c.952C>A p.L318I Substitution - Missense 14:31173360-31173360 - TCGA-A5-A0GP-01 COSM955269 c.1620A>G p.I540M Substitution - Missense 14:31168300-31168300 - EGC15 COSM2194796 c.5222G>A p.R1741Q Substitution - Missense 14:31121399-31121399 - UM-SCC-11B COSM4591840 c.6080T>C p.L2027P Substitution - Missense SC_9032 COSM5547769 c.2714_2715delCA p.T905fs*5 Deletion - Frameshift 14:31144174-31144175 - HCC60T COSM1607601 c.2979+7A>G p.? Unknown 14:31139885-31139885 - 8012199 COSM2194837 c.3359G>A p.R1120H Substitution - Missense 14:31135091-31135091 - CSCC-18-T COSM4535290 c.2176G>A p.E726K Substitution - Missense 14:31149140-31149140 - CSCC-44-T COSM4505652 c.6993C>T p.P2331P Substitution - coding silent 14:31106879-31106879 - CSCC-44-T COSM4553606 c.5965G>A p.G1989S Substitution - Missense 14:31113376-31113376 - CSCC-29-T COSM4553670 c.5987G>A p.G1996E Substitution - Missense 14:31113354-31113354 - SNUH_G45_S1 COSM3753935 c.360C>T p.A120A Substitution - coding silent 14:31178035-31178035 - EWS834 COSM4577828 c.519C>G p.L173L Substitution - coding silent 14:31174995-31174995 - 2492702 COSM5715575 c.3926G>A p.W1309* Substitution - Nonsense 14:31129445-31129445 - TCGA-D1-A16X-01 COSM697975 c.2897G>A p.R966Q Substitution - Missense 14:31139974-31139974 - LUAD-B00523 COSM331771 c.4547T>C p.L1516P Substitution - Missense 14:31128824-31128824 - AOCS-139-6-3 COSM3983231 c.1197A>T p.L399L Substitution - coding silent 14:31172082-31172082 - sysucc-311T COSM1323515 c.3163C>T p.R1055* Substitution - Nonsense 14:31135567-31135567 - TCGA-BR-4368-01 COSM4050465 c.5868G>A p.E1956E Substitution - coding silent 14:31113473-31113473 - PCSI_0547_Pa_P_526 COSM5031925 c.7516T>C p.Y2506H Substitution - Missense 14:31102950-31102950 - 2334195 COSM320789 c.2012G>T p.G671V Substitution - Missense 14:31150142-31150142 - TCGA-AM-5821-01 COSM3753933 c.6321G>A p.E2107E Substitution - coding silent 14:31109556-31109556 - HCC73 COSM1607602 c.1013T>C p.L338S Substitution - Missense 14:31173299-31173299 - 1N49-VS-1T49 COSM4976425 c.3781C>T p.R1261W Substitution - Missense 14:31133379-31133379 - SCC-25 COSM4591840 c.6080T>C p.L2027P Substitution - Missense TCGA-BT-A0YX-01 COSM416719 c.7253C>G p.S2418* Substitution - Nonsense 14:31105642-31105642 - 1_RESISTANT COSM185090 c.3004C>T p.R1002W Substitution - Missense 14:31136641-31136641 - AOCS-078-1-9 COSM3814674 c.4411C>T p.R1471C Substitution - Missense 14:31128960-31128960 - TCGA-G2-A3VY-01 COSM3793652 c.4285C>G p.L1429V Substitution - Missense 14:31129086-31129086 - 2492720 COSM5722180 c.399T>G p.R133R Substitution - coding silent 14:31175115-31175115 - TCGA-EE-A29P-06 COSM3495675 c.2559T>A p.R853R Substitution - coding silent 14:31144879-31144879 - TCGA-EO-A1Y5-01 COSM955272 c.338A>G p.N113S Substitution - Missense 14:31178057-31178057 - I2L-P19Ta-Tumor-Biopsy COSM5362463 c.2249C>A p.P750H Substitution - Missense 14:31149067-31149067 - TCGA-CG-5721-01 COSM4050477 c.3020C>T p.P1007L Substitution - Missense 14:31136625-31136625 - DLD1 COSM2194780 c.5951C>A p.P1984H Substitution - Missense 14:31113390-31113390 - CSCC-15-T COSM4465861 c.1402C>T p.R468* Substitution - Nonsense 14:31169399-31169399 - LUAD-5V8LT COSM401468 c.4637A>T p.E1546V Substitution - Missense 14:31128734-31128734 - T21 COSM4050481 c.1495G>A p.D499N Substitution - Missense 14:31168425-31168425 - CHC892T COSM4796963 c.1631G>A p.S544N Substitution - Missense 14:31157295-31157295 - TCGA-EE-A2MT-06 COSM3495667 c.6301C>T p.R2101* Substitution - Nonsense 14:31109576-31109576 - TCGA-GN-A26C-01 COSM3495671 c.4390T>C p.L1464L Substitution - coding silent 14:31128981-31128981 - TCGA-AA-A010-01 COSM281659 c.1271G>T p.R424I Substitution - Missense 14:31171922-31171922 - TCGA-F5-6814-01 COSM3419767 c.1288T>C p.S430P Substitution - Missense 14:31171905-31171905 - CML010T COSM5802803 c.4069A>G p.T1357A Substitution - Missense 14:31129302-31129302 - TCGA-ER-A19W-06 COSM4399021 c.654C>T p.T218T Substitution - coding silent 14:31173756-31173756 - SNUH_G45_S1 COSM3999247 c.5653G>A p.E1885K Substitution - Missense 14:31114306-31114306 - T3021 COSM4689898 c.2108C>T p.A703V Substitution - Missense 14:31150046-31150046 - TCGA-DD-A1EG-01 COSM4915842 c.1699G>A p.D567N Substitution - Missense 14:31157227-31157227 - TCGA-A8-A09W-01 COSM433000 c.3005G>A p.R1002Q Substitution - Missense 14:31136640-31136640 - TCGA-BR-4280-01 COSM4050482 c.1344G>A p.R448R Substitution - coding silent 14:31169457-31169457 - Pat_41_A COSM5848011 c.1003C>T p.R335* Substitution - Nonsense 14:31173309-31173309 - ESCC_109 COSM5638876 c.1193C>T p.T398I Substitution - Missense 14:31172086-31172086 - HCC68T COSM1607598 c.5231G>A p.G1744E Substitution - Missense 14:31121390-31121390 - STC252 COSM5053914 c.4617A>G p.S1539S Substitution - coding silent 14:31128754-31128754 - SA075 COSM214461 c.2883_2909del27 p.A963_V971delALIRKLIAV Deletion - In frame 14:31139962-31139988 - ESCC_146 COSM5644639 c.716G>A p.R239Q Substitution - Missense 14:31173694-31173694 - TCGA-BS-A0UF-01 COSM955252 c.7468C>A p.L2490I Substitution - Missense 14:31102998-31102998 - TCGA-BR-8487-01 COSM4050462 c.7111C>T p.R2371C Substitution - Missense 14:31106761-31106761 - LIM1899 COSM4050468 c.5126G>A p.R1709H Substitution - Missense 14:31121495-31121495 - TCGA-BR-8589-01 COSM4050461 c.7185T>C p.N2395N Substitution - coding silent 14:31106687-31106687 - TCGA-BG-A0MT-01 COSM955258 c.5200G>C p.V1734L Substitution - Missense 14:31121421-31121421 - 2492730 COSM5725661 c.2316T>C p.N772N Substitution - coding silent 14:31149000-31149000 - LS174T COSM2194760 c.7787A>G p.E2596G Substitution - Missense 14:31100976-31100976 - 7T COSM3711493 c.3139G>C p.D1047H Substitution - Missense 14:31135591-31135591 - CHC1715T COSM4789462 c.3041A>T p.D1014V Substitution - Missense 14:31136604-31136604 - TCGA-BC-A216-01 COSM4911427 c.4669C>T p.R1557W Substitution - Missense 14:31128702-31128702 - TCGA-CC-A7IH-01 COSM4923780 c.1276C>T p.Q426* Substitution - Nonsense 14:31171917-31171917 - ESO-105 COSM1254066 c.5097A>T p.Q1699H Substitution - Missense 14:31122932-31122932 - CSCC-47-T COSM4543655 c.3418G>A p.D1140N Substitution - Missense 14:31135032-31135032 - TCGA-D1-A16X-01 COSM955255 c.6370C>T p.R2124* Substitution - Nonsense 14:31109507-31109507 - PCSI_0073_Pa_P_526 COSM1158581 c.2346A>G p.K782K Substitution - coding silent 14:31148970-31148970 - SNUH_G45_S1 COSM1562663 c.6021A>G p.L2007L Substitution - coding silent 14:31113320-31113320 - TCGA-JW-A5VL-01 COSM4846769 c.1189C>G p.Q397E Substitution - Missense 14:31172090-31172090 - C32 COSM4619026 c.2794A>G p.M932V Substitution - Missense 14:31141937-31141937 - CSCC-62-T COSM4504765 c.6742C>T p.L2248F Substitution - Missense 14:31107130-31107130 - TCGA-AM-5821-01 COSM3753935 c.360C>T p.A120A Substitution - coding silent 14:31178035-31178035 - sysucc-1317T COSM5448652 c.6013C>T p.R2005C Substitution - Missense 14:31113328-31113328 - HCC158T COSM3706239 c.510A>G p.V170V Substitution - coding silent 14:31175004-31175004 - OSCC-GB_01070111 COSM4889396 c.6260C>A p.T2087K Substitution - Missense 14:31112434-31112434 - pfg092T COSM4752140 c.7414G>A p.V2472I Substitution - Missense 14:31103052-31103052 - TCGA-CG-5721-01 COSM4050473 c.4005A>G p.A1335A Substitution - coding silent 14:31129366-31129366 - TCGA-BR-6454-01 COSM4050467 c.5537A>G p.Y1846C Substitution - Missense 14:31116317-31116317 - B101 COSM1748808 c.1825G>C p.D609H Substitution - Missense 14:31156947-31156947 - OSCC-GB_00070111 COSM3711493 c.3139G>C p.D1047H Substitution - Missense 14:31135591-31135591 - B22 COSM1748805 c.2980-2A>G p.? Unknown 14:31136667-31136667 - QC2-32-T2 COSM3753933 c.6321G>A p.E2107E Substitution - coding silent 14:31109556-31109556 - CSCC-31-T COSM4446182 c.3923-3C>T p.? Unknown 14:31129451-31129451 - TCGA-A5-A0GB-01 COSM955264 c.2306C>T p.A769V Substitution - Missense 14:31149010-31149010 - ESCC_100 COSM5637843 c.5294A>T p.Y1765F Substitution - Missense 14:31119811-31119811 - TCGA-IA-A40X-01 COSM3987620 c.3553G>A p.D1185N Substitution - Missense 14:31134897-31134897 - PT37 COSM5920683 c.2015G>A p.R672K Substitution - Missense 14:31150139-31150139 - Gp5D COSM2194792 c.5373T>C p.T1791T Substitution - coding silent 14:31119732-31119732 - STC252 COSM3689925 c.3658A>G p.K1220E Substitution - Missense 14:31133596-31133596 - 587376 COSM1209479 c.1648A>C p.K550Q Substitution - Missense 14:31157278-31157278 - LUAD-B00416 COSM355380 c.4203G>T p.S1401S Substitution - coding silent 14:31129168-31129168 - AOCS-139-19-0 COSM3983231 c.1197A>T p.L399L Substitution - coding silent 14:31172082-31172082 - TCGA-DW-7963-01 COSM1756889 c.6736C>T p.H2246Y Substitution - Missense 14:31107136-31107136 - 2492721 COSM5722180 c.399T>G p.R133R Substitution - coding silent 14:31175115-31175115 - TCGA-EE-A2GJ-06 COSM3495678 c.1597C>T p.Q533* Substitution - Nonsense 14:31168323-31168323 - CSCC-27-T COSM4490790 c.3695C>T p.S1232F Substitution - Missense 14:31133559-31133559 - TCGA-BR-8368-01 COSM4050460 c.7367C>T p.T2456M Substitution - Missense 14:31105415-31105415 - I2L-P7-Tumor-Organoid COSM5362680 c.4012T>C p.Y1338H Substitution - Missense 14:31129359-31129359 - KPOPBR-15-T COSM5964356 c.3703G>C p.E1235Q Substitution - Missense 14:31133551-31133551 - TCGA-BR-8382-01 COSM4050469 c.5101T>C p.Y1701H Substitution - Missense 14:31122928-31122928 - CCK81 COSM2194769 c.6813delT p.F2271fs*13 Deletion - Frameshift 14:31107059-31107059 - T3049 COSM4689896 c.3377A>G p.N1126S Substitution - Missense 14:31135073-31135073 - TCGA-CU-A0YN-01 COSM416717 c.1568G>T p.R523M Substitution - Missense 14:31168352-31168352 - B80-0 COSM1748807 c.2513G>T p.R838L Substitution - Missense 14:31144925-31144925 - B86-Tumor COSM1748809 c.595G>A p.D199N Substitution - Missense 14:31174919-31174919 - HCC73T COSM1607602 c.1013T>C p.L338S Substitution - Missense 14:31173299-31173299 - TCGA-AN-A046-01 COSM3814674 c.4411C>T p.R1471C Substitution - Missense 14:31128960-31128960 - Mx27 COSM50618 c.647G>T p.R216L Substitution - Missense 14:31173763-31173763 - T2269 COSM4689895 c.4476T>C p.S1492S Substitution - coding silent 14:31128895-31128895 - SCC-9 COSM4591840 c.6080T>C p.L2027P Substitution - Missense T164 COSM307692 c.4523T>G p.L1508R Substitution - Missense 14:31128848-31128848 - YUROC COSM5382199 c.6150G>A p.E2050E Substitution - coding silent 14:31113104-31113104 - HCC11 COSM1607599 c.3968G>C p.R1323P Substitution - Missense 14:31129403-31129403 - TCGA-EE-A3AE-06 COSM3885996 c.2091C>T p.I697I Substitution - coding silent 14:31150063-31150063 - Detroit_562 COSM4591840 c.6080T>C p.L2027P Substitution - Missense TCGA-BR-8680-01 COSM4050464 c.6220C>T p.L2074L Substitution - coding silent 14:31112474-31112474 - YUMOBER COSM5382202 c.1209C>G p.A403A Substitution - coding silent 14:31172070-31172070 - ESO-037 COSM1254065 c.1157-4delT p.? Unknown 14:31172126-31172126 - SNUH_G76_S1 COSM4418616 c.7680C>T p.L2560L Substitution - coding silent 14:31101195-31101195 - LUAD-B02594 COSM336460 c.2762T>G p.L921R Substitution - Missense 14:31144127-31144127 - TCGA-AO-A12E-01 COSM3814676 c.759A>C p.A253A Substitution - coding silent 14:31173651-31173651 - WSU-HN8 COSM4591840 c.6080T>C p.L2027P Substitution - Missense CN-AML-CR-33-Dx COSM5425076 c.3906A>C p.T1302T Substitution - coding silent 14:31133254-31133254 - TCGA-AX-A05Z-01 COSM955252 c.7468C>A p.L2490I Substitution - Missense 14:31102998-31102998 - OCC07PT COSM88722 c.6887delT p.L2296fs*21 Deletion - Frameshift 14:31106985-31106985 - TCGA-AP-A051-01 COSM955262 c.3545C>T p.T1182I Substitution - Missense 14:31134905-31134905 - TCGA-66-2734-01 COSM697978 c.5510C>G p.T1837S Substitution - Missense 14:31116344-31116344 - BHY COSM4591840 c.6080T>C p.L2027P Substitution - Missense PD23558a COSM5777619 c.4556G>A p.S1519N Substitution - Missense 14:31128815-31128815 - 587376 COSM1209476 c.7112G>A p.R2371H Substitution - Missense 14:31106760-31106760 - PD4127a COSM161493 c.494C>G p.S165C Substitution - Missense 14:31175020-31175020 - TCGA-A2-A0YM-01 COSM433003 c.140C>G p.T47R Substitution - Missense 14:31205797-31205797 - TCGA-F1-6874-01 COSM1239050 c.3975C>T p.G1325G Substitution - coding silent 14:31129396-31129396 - TCGA-P5-A5EV-01 COSM4420335 c.5876C>G p.T1959R Substitution - Missense 14:31113465-31113465 - 19 COSM5747532 c.5996A>G p.D1999G Substitution - Missense 14:31113345-31113345 - TCGA-DK-A1A5-01 COSM416718 c.2577C>G p.L859L Substitution - coding silent 14:31144861-31144861 - ORL-48 COSM4591840 c.6080T>C p.L2027P Substitution - Missense TCGA-G4-6302-01 COSM3690056 c.6614G>A p.R2205H Substitution - Missense 14:31107571-31107571 - PCSI0073 COSM1158581 c.2346A>G p.K782K Substitution - coding silent 14:31148970-31148970 - T50 COSM5065024 c.989T>A p.L330Q Substitution - Missense 14:31173323-31173323 - PT37 COSM5920682 c.6625C>T p.L2209F Substitution - Missense 14:31107247-31107247 - TCGA-HU-A4G8-01 COSM4050459 c.7657C>G p.L2553V Substitution - Missense 14:31101218-31101218 - TCGA-BS-A0TC-01 COSM955263 c.3184A>C p.N1062H Substitution - Missense 14:31135546-31135546 - UM-SCC-4 COSM4591840 c.6080T>C p.L2027P Substitution - Missense PD4128a COSM161494 c.1262A>C p.D421A Substitution - Missense 14:31171931-31171931 - TCGA-EE-A17X-06 COSM3495677 c.1645C>T p.R549* Substitution - Nonsense 14:31157281-31157281 - TCGA-BR-4292-01 COSM4050463 c.7100C>T p.A2367V Substitution - Missense 14:31106772-31106772 - HN_62854 COSM123562 c.5044C>T p.P1682S Substitution - Missense 14:31122985-31122985 - Pat_34_A COSM5848010 c.4644delT p.F1548fs*2 Deletion - Frameshift 14:31128727-31128727 - Au1 COSM5596835 c.494C>T p.S165F Substitution - Missense 14:31175020-31175020 - OST10T COSM1732356 c.5744C>T p.T1915I Substitution - Missense 14:31113989-31113989 - PD4127a COSM161492 c.2644G>A p.E882K Substitution - Missense 14:31144245-31144245 - 5 COSM4333346 c.272G>A p.R91K Substitution - Missense 14:31178123-31178123 - C662 COSM4443644 c.2198G>A p.G733D Substitution - Missense 14:31149118-31149118 - 2492701 COSM5715575 c.3926G>A p.W1309* Substitution - Nonsense 14:31129445-31129445 - S01453 COSM311740 c.176A>G p.K59R Substitution - Missense 14:31178219-31178219 - PR-02-2072 COSM244883 c.2860G>T p.E954* Substitution - Nonsense 14:31141871-31141871 - PR-00-1165 COSM244882 c.6271G>A p.A2091T Substitution - Missense 14:31112423-31112423 - SNUH_G45_S1 COSM3999248 c.4276A>G p.I1426V Substitution - Missense 14:31129095-31129095 - 61 COSM5740070 c.505G>A p.V169M Substitution - Missense 14:31175009-31175009 - C086 COSM5532246 c.1889C>T p.P630L Substitution - Missense 14:31156883-31156883 - TCGA-A2-A1FW-01 COSM1477529 c.3102C>G p.Y1034* Substitution - Nonsense 14:31136543-31136543 - BN05T COSM1607600 c.2980A>G p.I994V Substitution - Missense 14:31136665-31136665 - 234 COSM3730764 c.2420-9C>T p.? Unknown 14:31148806-31148806 - pfg122T COSM4752143 c.4421G>A p.G1474E Substitution - Missense 14:31128950-31128950 - Gp2D COSM1242342 c.6121delA p.I2041fs*27 Deletion - Frameshift 14:31113133-31113133 - TCGA-33-4586-01 COSM697975 c.2897G>A p.R966Q Substitution - Missense 14:31139974-31139974 - TCGA-EE-A29M-06 COSM3495676 c.1888C>T p.P630S Substitution - Missense 14:31156884-31156884 - CSCC-44-T COSM4512761 c.914C>T p.S305L Substitution - Missense 14:31173398-31173398 - WSU-HN30 COSM4591840 c.6080T>C p.L2027P Substitution - Missense BD130T COSM5516050 c.2584A>G p.I862V Substitution - Missense 14:31144854-31144854 - B82-Tumor COSM1748806 c.2938C>G p.L980V Substitution - Missense 14:31139933-31139933 - T578 COSM4689899 c.887A>C p.D296A Substitution - Missense 14:31173425-31173425 - 2492703 COSM5715575 c.3926G>A p.W1309* Substitution - Nonsense 14:31129445-31129445 - TCGA-D1-A15X-01 COSM955268 c.1940A>G p.E647G Substitution - Missense 14:31150214-31150214 - TCGA-C8-A1HJ-01 COSM1242342 c.6121delA p.I2041fs*27 Deletion - Frameshift 14:31113133-31113133 - RK212_C01 COSM3744302 c.6178C>G p.L2060V Substitution - Missense 14:31112516-31112516 - sysucc-1370T COSM4050470 c.5000G>A p.R1667H Substitution - Missense 14:31123029-31123029 - TCGA-D1-A17B-01 COSM955273 c.314G>A p.R105H Substitution - Missense 14:31178081-31178081 - OV207 COSM252536 c.5767G>A p.A1923T Substitution - Missense 14:31113966-31113966 - 07-P8041 COSM4577827 c.1303G>T p.A435S Substitution - Missense 14:31171890-31171890 - 2492700 COSM5715575 c.3926G>A p.W1309* Substitution - Nonsense 14:31129445-31129445 - 587376 COSM1209477 c.6841A>C p.S2281R Substitution - Missense 14:31107031-31107031 - PD11760a COSM5796761 c.6541G>A p.V2181M Substitution - Missense 14:31107644-31107644 - HCC158 COSM3706239 c.510A>G p.V170V Substitution - coding silent 14:31175004-31175004 - RMS105_ COSM4986162 c.5228T>C p.I1743T Substitution - Missense 14:31121393-31121393 - PD24214a COSM5777823 c.140C>T p.T47I Substitution - Missense 14:31205797-31205797 - TCGA-BS-A0UF-01 COSM955266 c.2194C>T p.R732* Substitution - Nonsense 14:31149122-31149122 - TCGA-CD-A4MJ-01 COSM1369527 c.5169G>A p.T1723T Substitution - coding silent 14:31121452-31121452 - NOKSI COSM4591840 c.6080T>C p.L2027P Substitution - Missense I2L-P19Tb-Tumor-Organoid COSM2194819 c.4302C>T p.N1434N Substitution - coding silent 14:31129069-31129069 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.708005;Hs.708017 14q12

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.4982-463T>G 14 31592716 HC A C Missense p.I2041M c.6123T>G 14 31582337 BRCA A C Synonymous p.A1420A c.4260T>G 14 31598317 HNSC AG CA Missense p.P1597L c.4790_4791delinsTG 14 31597181 CM A G IntronicSNV . c.6618+27T>C 14 31576746 STAD A G Synonymous p.D394D c.1182T>C 14 31641303 UCEC A G Synonymous p.F554F c.1662T>C 14 31626470 RCCC A G Synonymous p.L1464L c.4390T>C 14 31598187 CM A G Synonymous p.S1161S c.3483T>C 14 31604173 CM A - IntronicDeletion . c.1157-4delT 14 31641332 ESCA A - IntronicDeletion . c.2420-10delT 14 31618013 STAD A T Missense p.F2123Y c.6368T>A 14 31578715 OV A T Missense p.W1177R c.3529T>A 14 31604127 CM A T Synonymous p.R853R c.2559T>A 14 31614085 CM C A Missense p.C209F c.626G>T 14 31642990 LUAD C A Missense p.E1679D c.5037G>T 14 31592198 UCEC C A Missense p.G312V c.935G>T 14 31642583 NSCLC C A Missense p.G671V c.2012G>T 14 31619348 SCLC C A Missense p.Q311H c.933G>T 14 31642585 LUAD C A Missense p.R2124L c.6371G>T 14 31578712 LUSC C A Missense p.R523M c.1568G>T 14 31637558 BLCA C A Missense p.V317L c.949G>T 14 31642569 LUSC C A Missense p.V923L c.2767G>T 14 31613328 BRCA C A Nonsense p.E1749* c.5245G>T 14 31589066 SCLC C A SpliceAcceptorSNV . c.2632-1G>T 14 31613464 LUAD C A Synonymous p.L1163L c.3489G>T 14 31604167 LUAD C - Frameshift p.E1998Kfs*12 c.5992delG 14 31582555 GBM C G Missense p.D1290H c.3868G>C 14 31602498 LUSC C G Missense p.E1794Q c.5380G>C 14 31588931 HNSC C G Missense p.V1734L c.5200G>C 14 31590627 UCEC C G Missense p.W485C c.1455G>C 14 31637671 HNSC C T IntronicSNV . c.6278+313G>A 14 31581309 CM C T Missense p.D2312N c.6934G>A 14 31576144 BRCA C T Missense p.D565N c.1693G>A 14 31626439 BLCA C T Missense p.D680N c.2038G>A 14 31619322 HNSC C T Missense p.E2237K c.6709G>A 14 31576369 LUAD C T Missense p.E234K c.700G>A 14 31642916 LUAD C T Missense p.E2383K c.7147G>A 14 31575931 BLCA C T Missense p.E504K c.1510G>A 14 31637616 BRCA C T Missense p.E882K c.2644G>A 14 31613451 BRCA C T Missense p.E957K c.2869G>A 14 31611068 BLCA C T Missense p.R1002Q c.3005G>A 14 31605846 BRCA C T Missense p.R1058K c.3173G>A 14 31604763 BRCA C T Missense p.R105H c.314G>A 14 31647287 UCEC C T Missense p.R1282K c.3845G>A 14 31602521 LUAD C T Missense p.R1784H c.5351G>A 14 31588960 STAD C T Missense p.R2137H c.6410G>A 14 31578673 MM C T Missense p.R220H c.659G>A 14 31642957 MM C T Missense p.R2356K c.7067G>A 14 31576011 RCCC C T Missense p.R966Q c.2897G>A 14 31609180 LUSC C T Synonymous p.E1546E c.4638G>A 14 31597939 CM C T Synonymous p.E1956E c.5868G>A 14 31582679 STAD C T Synonymous p.G1219G c.3657G>A 14 31602803 HNSC C T Synonymous p.L2521L c.7563G>A 14 31570518 CM C T Synonymous p.R448R c.1344G>A 14 31638663 STAD C T Synonymous p.T2456T c.7368G>A 14 31574620 BRCA GAG - InFrameDeletion p.P1589delP c.4766_4768delCTC 14 31597204 LUAD G A IntronicSNV . c.1932+1624C>T 14 31624422 CLL G A Missense p.A2367V c.7100C>T 14 31575978 STAD G A Missense p.A769V c.2306C>T 14 31618216 UCEC G A Missense p.L2403F c.7207C>T 14 31575871 UCEC G A Missense p.L28F c.82C>T 14 31675061 GBM G A Missense p.P1466S c.4396C>T 14 31598181 CM G A Missense p.P1682S c.5044C>T 14 31592191 HNSC G A Missense p.P440L c.1319C>T 14 31641080 CM G A Missense p.P482S c.1444C>T 14 31638563 CM G A Missense p.P630S c.1888C>T 14 31626090 CM G A Missense p.R1066W c.3196C>T 14 31604740 CM G A Missense p.R1830C c.5488C>T 14 31585572 UCEC G A Missense p.R2155W c.6463C>T 14 31578620 CM G A Missense p.R258C c.772C>T 14 31642844 HNSC G A Missense p.R853C c.2557C>T 14 31614087 HNSC G A Nonsense p.Q533* c.1597C>T 14 31637529 CM G A Nonsense p.R2101* c.6301C>T 14 31578782 CM G A Nonsense p.R2117* c.6349C>T 14 31578734 STAD G A Nonsense p.R549* c.1645C>T 14 31626487 CM G A Synonymous p.G1325G c.3975C>T 14 31598602 STAD G A Synonymous p.H1928H c.5784C>T 14 31583155 CM G A Synonymous p.I1397I c.4191C>T 14 31598386 BLCA G A Synonymous p.I697I c.2091C>T 14 31619269 CM G A Synonymous p.S1444S c.4332C>T 14 31598245 LUAD G A Synonymous p.V1435V c.4305C>T 14 31598272 CM G C Missense p.C1893W c.5679C>G 14 31583260 OV G C Missense p.L1566V c.4696C>G 14 31597881 BRCA G C Missense p.P2550A c.7648C>G 14 31570433 HNSC G C Missense p.R2205G c.6613C>G 14 31576778 LUAD G C Missense p.S165C c.494C>G 14 31644226 BRCA G C Missense p.T1837S c.5510C>G 14 31585550 LUSC G C Missense p.T47R c.140C>G 14 31675003 BRCA G C Nonsense p.S2418* c.7253C>G 14 31574848 BLCA G C Nonsense p.Y1034* c.3102C>G 14 31605749 BRCA G C Synonymous p.L859L c.2577C>G 14 31614067 BLCA G - Frameshift p.S1647Vfs*59 c.4938delC 14 31597034 HNSC G T Missense p.H2130N c.6388C>A 14 31578695 NB T A Missense p.E469D c.1407A>T 14 31638600 BRCA T A Missense p.E809V c.2426A>T 14 31617997 COREAD T A Missense p.K1981I c.5942A>T 14 31582605 BRCA T A Missense p.M2594L c.7780A>T 14 31570189 CM T A Missense p.Q1699H c.5097A>T 14 31592138 ESCA T A Missense p.S2431C c.7291A>T 14 31574810 BLCA T A Missense p.T285S c.853A>T 14 31642763 CM T C Missense p.D2278G c.6833A>G 14 31576245 SCLC T C Missense p.H197R c.590A>G 14 31644130 CM T C Missense p.I540M c.1620A>G 14 31637506 UCEC T C Missense p.K1333R c.3998A>G 14 31598579 STAD T C Missense p.K497R c.1490A>G 14 31637636 LUAD T C Missense p.K511E c.1531A>G 14 31637595 LUAD T C Missense p.K59R c.176A>G 14 31647425 SCLC T C Missense p.K623E c.1867A>G 14 31626111 LUAD T C Missense p.M240V c.718A>G 14 31642898 CLL T C Missense p.N113S c.338A>G 14 31647263 UCEC T C Missense p.Y1846C c.5537A>G 14 31585523 STAD T C Synonymous p.L2067L c.6201A>G 14 31581699 HNSC - T Frameshift p.L1236Tfs*10 c.3705dupA 14 31602755 CM T G Missense p.D421A c.1262A>C 14 31641137 BRCA T G Missense p.K901Q c.2701A>C 14 31613394 RCCC T G Missense p.N1062H c.3184A>C 14 31604752 UCEC T G Missense p.N636T c.1907A>C 14 31626071 HNSC T G Missense p.S1385R c.4153A>C 14 31598424 BRCA