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 12 99061321 99061321 + Nonsense_Mutation SNP C C T TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr12:99061321C>T c.1393C>T c.(1393-1395)Cag>Tag p.Q465* BLCA 12 99042266 99042266 + Silent SNP A A G TCGA-BL-A5ZZ-01A-31D-A30E-08 TCGA-BL-A5ZZ-10A-01D-A30H-08 g.chr12:99042266A>G c.129A>G c.(127-129)gtA>gtG p.V43V BLCA 12 99053033 99053033 + Nonsense_Mutation SNP C C T TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr12:99053033C>T c.622C>T c.(622-624)Cag>Tag p.Q208* BLCA 12 99056532 99056532 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 g.chr12:99056532G>T c.903G>T c.(901-903)atG>atT p.M301I BLCA 12 99059453 99059453 + Missense_Mutation SNP G G A TCGA-YC-A8S6-01A-31D-A38G-08 TCGA-YC-A8S6-10A-01D-A38J-08 g.chr12:99059453G>A c.1078G>A c.(1078-1080)Gat>Aat p.D360N BLCA 12 99061345 99061345 + Missense_Mutation SNP C C G TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr12:99061345C>G c.1417C>G c.(1417-1419)Ctt>Gtt p.L473V BLCA 12 99076980 99076980 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 g.chr12:99076980C>T c.2106C>T c.(2104-2106)gtC>gtT p.V702V BLCA 12 99076995 99076995 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 g.chr12:99076995C>T c.2121C>T c.(2119-2121)ttC>ttT p.F707F BLCA 12 99109219 99109219 + Frame_Shift_Del DEL A A - TCGA-YF-AA3L-01A-11D-A38G-08 TCGA-YF-AA3L-10A-01D-A38J-08 g.chr12:99109219delA c.2973delA c.(2971-2973)gtafs p.V991fs BLCA 12 99120994 99120994 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr12:99120994C>T c.3500C>T c.(3499-3501)cCg>cTg p.P1167L BLCA 12 99126309 99126309 + Missense_Mutation SNP C C A TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr12:99126309C>A c.3712C>A c.(3712-3714)Ctt>Att p.L1238I BRCA 12 99042154 99042154 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr12:99042154G>A c.17G>A c.(16-18)cGa>cAa p.R6Q BRCA 12 99042512 99042512 + Missense_Mutation SNP C C T TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 g.chr12:99042512C>T c.247C>T c.(247-249)Ctt>Ttt p.L83F BRCA 12 99043418 99043418 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr12:99043418C>G c.482C>G c.(481-483)tCt>tGt p.S161C BRCA 12 99043451 99043451 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr12:99043451C>G c.515C>G c.(514-516)tCc>tGc p.S172C BRCA 12 99059461 99059461 + Missense_Mutation SNP G G T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 g.chr12:99059461G>T c.1086G>T c.(1084-1086)gaG>gaT p.E362D BRCA 12 99065489 99065489 + Silent SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr12:99065489G>A c.1785G>A c.(1783-1785)ctG>ctA p.L595L BRCA 12 99074100 99074100 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr12:99074100C>T c.1966C>T c.(1966-1968)Cat>Tat p.H656Y BRCA 12 99074109 99074109 + Missense_Mutation SNP G G A TCGA-BH-A1FC-01A-11D-A13L-09 TCGA-BH-A1FC-11A-32D-A188-09 g.chr12:99074109G>A c.1975G>A c.(1975-1977)Gaa>Aaa p.E659K BRCA 12 99074131 99074131 + Missense_Mutation SNP C C G TCGA-E9-A1N3-01A-12D-A159-09 TCGA-E9-A1N3-10A-01D-A159-09 g.chr12:99074131C>G c.1997C>G c.(1996-1998)tCt>tGt p.S666C BRCA 12 99076931 99076931 + Missense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr12:99076931C>A c.2057C>A c.(2056-2058)tCt>tAt p.S686Y BRCA 12 99080547 99080547 + Nonsense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr12:99080547G>T c.2200G>T c.(2200-2202)Gaa>Taa p.E734* BRCA 12 99120975 99120977 + In_Frame_Del DEL CTT CTT - TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr12:99120975_99120977delCTT c.3481_3483delCTT c.(3481-3483)cttdel p.L1162del CESC 12 99042547 99042547 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 g.chr12:99042547C>T c.282C>T c.(280-282)gtC>gtT p.V94V CESC 12 99042552 99042552 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 g.chr12:99042552C>T c.287C>T c.(286-288)tCt>tTt p.S96F CESC 12 99106099 99106099 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 g.chr12:99106099C>T c.2844C>T c.(2842-2844)ctC>ctT p.L948L CESC 12 99120964 99120964 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr12:99120964C>G c.3470C>G c.(3469-3471)tCa>tGa p.S1157* CHOL 12 99080607 99080607 + Missense_Mutation SNP G G T TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr12:99080607G>T c.2260G>T c.(2260-2262)Gat>Tat p.D754Y CHOL 12 99106135 99106135 + Silent SNP T T C TCGA-W5-AA2U-01A-11D-A417-09 TCGA-W5-AA2U-10A-01D-A41A-09 g.chr12:99106135T>C c.2880T>C c.(2878-2880)acT>acC p.T960T COAD 12 99043328 99043328 + Missense_Mutation SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr12:99043328A>G c.392A>G c.(391-393)aAg>aGg p.K131R COAD 12 99043328 99043328 + Missense_Mutation SNP A A G TCGA-CK-4947-01B-11D-1650-10 TCGA-CK-4947-10A-01D-1650-10 g.chr12:99043328A>G c.392A>G c.(391-393)aAg>aGg p.K131R COAD 12 99043328 99043328 + Missense_Mutation SNP A A G TCGA-CM-6170-01A-11D-1650-10 TCGA-CM-6170-10A-01D-1650-10 g.chr12:99043328A>G c.392A>G c.(391-393)aAg>aGg p.K131R COAD 12 99043372 99043372 + Missense_Mutation SNP G G A TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr12:99043372G>A c.436G>A c.(436-438)Gaa>Aaa p.E146K COAD 12 99043373 99043373 + Missense_Mutation SNP A A G TCGA-AA-3502-01A-01D-1408-10 TCGA-AA-3502-11A-01D-1408-10 g.chr12:99043373A>G c.437A>G c.(436-438)gAa>gGa p.E146G COAD 12 99043373 99043373 + Missense_Mutation SNP A A G TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr12:99043373A>G c.437A>G c.(436-438)gAa>gGa p.E146G COAD 12 99043374 99043374 + Silent SNP A A G TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr12:99043374A>G c.438A>G c.(436-438)gaA>gaG p.E146E COAD 12 99043374 99043374 + Silent SNP A A G TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr12:99043374A>G c.438A>G c.(436-438)gaA>gaG p.E146E COAD 12 99043374 99043374 + Silent SNP A A G TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr12:99043374A>G c.438A>G c.(436-438)gaA>gaG p.E146E COAD 12 99043374 99043374 + Silent SNP A A G TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr12:99043374A>G c.438A>G c.(436-438)gaA>gaG p.E146E COAD 12 99056319 99056319 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:99056319G>T c.796G>T c.(796-798)Gac>Tac p.D266Y COAD 12 99059362 99059362 + Silent SNP A A G TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr12:99059362A>G c.987A>G c.(985-987)gcA>gcG p.A329A COAD 12 99060074 99060074 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:99060074G>A c.1301G>A c.(1300-1302)cGt>cAt p.R434H COAD 12 99061305 99061305 + Silent SNP G G A TCGA-AA-3548-01A-01W-0831-10 TCGA-AA-3548-10A-01W-0831-10 g.chr12:99061305G>A c.1377G>A c.(1375-1377)aaG>aaA p.K459K COAD 12 99061364 99061364 + Missense_Mutation SNP A A G TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr12:99061364A>G c.1436A>G c.(1435-1437)gAc>gGc p.D479G COAD 12 99064795 99064795 + Missense_Mutation SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:99064795A>C c.1539A>C c.(1537-1539)aaA>aaC p.K513N COAD 12 99065359 99065359 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr12:99065359G>A c.1655G>A c.(1654-1656)gGa>gAa p.G552E COAD 12 99065435 99065435 + Nonsense_Mutation SNP T T G TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr12:99065435T>G c.1731T>G c.(1729-1731)taT>taG p.Y577* COAD 12 99071221 99071221 + Silent SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr12:99071221G>A c.1812G>A c.(1810-1812)acG>acA p.T604T COAD 12 99071221 99071221 + Silent SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:99071221G>A c.1812G>A c.(1810-1812)acG>acA p.T604T COAD 12 99076932 99076932 + Silent SNP T T C TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr12:99076932T>C c.2058T>C c.(2056-2058)tcT>tcC p.S686S COAD 12 99093197 99093197 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:99093197G>A c.2316G>A c.(2314-2316)gcG>gcA p.A772A COAD 12 99093220 99093220 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:99093220G>T c.2339G>T c.(2338-2340)aGc>aTc p.S780I COAD 12 99093239 99093239 + Frame_Shift_Del DEL C C - TCGA-D5-5538-01A-01D-1650-10 TCGA-D5-5538-10A-02D-1650-10 g.chr12:99093239delC c.2358delC c.(2356-2358)ttcfs p.F787fs COAD 12 99093246 99093246 + Missense_Mutation SNP A A T TCGA-CM-5341-01A-01D-1408-10 TCGA-CM-5341-10A-01D-1408-10 g.chr12:99093246A>T c.2365A>T c.(2365-2367)Aat>Tat p.N789Y COAD 12 99097192 99097192 + Missense_Mutation SNP C C T TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr12:99097192C>T c.2510C>T c.(2509-2511)aCg>aTg p.T837M COAD 12 99097277 99097277 + Splice_Site SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:99097277G>A c.2595G>A c.(2593-2595)gaG>gaA p.E865E COAD 12 99100282 99100282 + Missense_Mutation SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr12:99100282G>A c.2615G>A c.(2614-2616)cGt>cAt p.R872H COAD 12 99109286 99109286 + Missense_Mutation SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr12:99109286G>A c.3040G>A c.(3040-3042)Gat>Aat p.D1014N COAD 12 99126270 99126270 + Missense_Mutation SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr12:99126270G>A c.3673G>A c.(3673-3675)Gtg>Atg p.V1225M COADREAD 12 99043328 99043328 + Missense_Mutation SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr12:99043328A>G c.392A>G c.(391-393)aAg>aGg p.K131R COADREAD 12 99043328 99043328 + Missense_Mutation SNP A A G TCGA-CK-4947-01B-11D-1650-10 TCGA-CK-4947-10A-01D-1650-10 g.chr12:99043328A>G c.392A>G c.(391-393)aAg>aGg p.K131R COADREAD 12 99043328 99043328 + Missense_Mutation SNP A A G TCGA-CM-6170-01A-11D-1650-10 TCGA-CM-6170-10A-01D-1650-10 g.chr12:99043328A>G c.392A>G c.(391-393)aAg>aGg p.K131R COADREAD 12 99043328 99043328 + Missense_Mutation SNP A A G TCGA-DC-6155-01A-11D-1657-10 TCGA-DC-6155-10A-01D-1657-10 g.chr12:99043328A>G c.392A>G c.(391-393)aAg>aGg p.K131R COADREAD 12 99043328 99043328 + Missense_Mutation SNP A A G TCGA-DY-A0XA-01A-11D-A152-10 TCGA-DY-A0XA-10A-01D-A152-10 g.chr12:99043328A>G c.392A>G c.(391-393)aAg>aGg p.K131R COADREAD 12 99043372 99043372 + Missense_Mutation SNP G G A TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr12:99043372G>A c.436G>A c.(436-438)Gaa>Aaa p.E146K COADREAD 12 99043373 99043373 + Missense_Mutation SNP A A G TCGA-AA-3502-01A-01D-1408-10 TCGA-AA-3502-11A-01D-1408-10 g.chr12:99043373A>G c.437A>G c.(436-438)gAa>gGa p.E146G COADREAD 12 99043373 99043373 + Missense_Mutation SNP A A G TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr12:99043373A>G c.437A>G c.(436-438)gAa>gGa p.E146G COADREAD 12 99043374 99043374 + Silent SNP A A G TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr12:99043374A>G c.438A>G c.(436-438)gaA>gaG p.E146E COADREAD 12 99043374 99043374 + Silent SNP A A G TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr12:99043374A>G c.438A>G c.(436-438)gaA>gaG p.E146E COADREAD 12 99043374 99043374 + Silent SNP A A G TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr12:99043374A>G c.438A>G c.(436-438)gaA>gaG p.E146E COADREAD 12 99043374 99043374 + Silent SNP A A G TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr12:99043374A>G c.438A>G c.(436-438)gaA>gaG p.E146E COADREAD 12 99056319 99056319 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:99056319G>T c.796G>T c.(796-798)Gac>Tac p.D266Y COADREAD 12 99059362 99059362 + Silent SNP A A G TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr12:99059362A>G c.987A>G c.(985-987)gcA>gcG p.A329A COADREAD 12 99060074 99060074 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:99060074G>A c.1301G>A c.(1300-1302)cGt>cAt p.R434H COADREAD 12 99061305 99061305 + Silent SNP G G A TCGA-AA-3548-01A-01W-0831-10 TCGA-AA-3548-10A-01W-0831-10 g.chr12:99061305G>A c.1377G>A c.(1375-1377)aaG>aaA p.K459K COADREAD 12 99061364 99061364 + Missense_Mutation SNP A A G TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr12:99061364A>G c.1436A>G c.(1435-1437)gAc>gGc p.D479G COADREAD 12 99064795 99064795 + Missense_Mutation SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:99064795A>C c.1539A>C c.(1537-1539)aaA>aaC p.K513N COADREAD 12 99065359 99065359 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr12:99065359G>A c.1655G>A c.(1654-1656)gGa>gAa p.G552E COADREAD 12 99065435 99065435 + Nonsense_Mutation SNP T T G TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr12:99065435T>G c.1731T>G c.(1729-1731)taT>taG p.Y577* COADREAD 12 99071221 99071221 + Silent SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr12:99071221G>A c.1812G>A c.(1810-1812)acG>acA p.T604T COADREAD 12 99071221 99071221 + Silent SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:99071221G>A c.1812G>A c.(1810-1812)acG>acA p.T604T COADREAD 12 99076932 99076932 + Silent SNP T T C TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr12:99076932T>C c.2058T>C c.(2056-2058)tcT>tcC p.S686S COADREAD 12 99093197 99093197 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:99093197G>A c.2316G>A c.(2314-2316)gcG>gcA p.A772A COADREAD 12 99093220 99093220 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:99093220G>T c.2339G>T c.(2338-2340)aGc>aTc p.S780I COADREAD 12 99093239 99093239 + Frame_Shift_Del DEL C C - TCGA-D5-5538-01A-01D-1650-10 TCGA-D5-5538-10A-02D-1650-10 g.chr12:99093239delC c.2358delC c.(2356-2358)ttcfs p.F787fs COADREAD 12 99093246 99093246 + Missense_Mutation SNP A A T TCGA-CM-5341-01A-01D-1408-10 TCGA-CM-5341-10A-01D-1408-10 g.chr12:99093246A>T c.2365A>T c.(2365-2367)Aat>Tat p.N789Y COADREAD 12 99097192 99097192 + Missense_Mutation SNP C C T TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr12:99097192C>T c.2510C>T c.(2509-2511)aCg>aTg p.T837M COADREAD 12 99097277 99097277 + Splice_Site SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:99097277G>A c.2595G>A c.(2593-2595)gaG>gaA p.E865E COADREAD 12 99100282 99100282 + Missense_Mutation SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr12:99100282G>A c.2615G>A c.(2614-2616)cGt>cAt p.R872H COADREAD 12 99109286 99109286 + Missense_Mutation SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr12:99109286G>A c.3040G>A c.(3040-3042)Gat>Aat p.D1014N COADREAD 12 99126270 99126270 + Missense_Mutation SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr12:99126270G>A c.3673G>A c.(3673-3675)Gtg>Atg p.V1225M ESCA 12 99053025 99053025 + Missense_Mutation SNP G G A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 g.chr12:99053025G>A c.614G>A c.(613-615)cGg>cAg p.R205Q ESCA 12 99065330 99065330 + Silent SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 g.chr12:99065330G>A c.1626G>A c.(1624-1626)gaG>gaA p.E542E ESCA 12 99109237 99109237 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr12:99109237G>A c.2991G>A c.(2989-2991)caG>caA p.Q997Q ESCA 12 99117533 99117533 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 g.chr12:99117533G>T c.3321G>T c.(3319-3321)aaG>aaT p.K1107N ESCA 12 99126322 99126322 + Missense_Mutation SNP A A G TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 g.chr12:99126322A>G c.3725A>G c.(3724-3726)tAt>tGt p.Y1242C GBMLGG 12 99059486 99059486 + Missense_Mutation SNP A A T TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 g.chr12:99059486A>T c.1111A>T c.(1111-1113)Agt>Tgt p.S371C GBMLGG 12 99097198 99097198 + Missense_Mutation SNP A A G TCGA-S9-A6TY-01A-12D-A32B-08 TCGA-S9-A6TY-10A-01D-A329-08 g.chr12:99097198A>G c.2516A>G c.(2515-2517)cAt>cGt p.H839R GBMLGG 12 99121056 99121056 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:99121056G>T c.3562G>T c.(3562-3564)Gat>Tat p.D1188Y HNSC 12 99042256 99042256 + Missense_Mutation SNP A A T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 g.chr12:99042256A>T c.119A>T c.(118-120)gAg>gTg p.E40V HNSC 12 99042592 99042592 + Splice_Site DEL T T - TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 g.chr12:99042592delT c.327delT c.(325-327)tat>ta p.Y109fs HNSC 12 99053045 99053045 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr12:99053045T>C c.634T>C c.(634-636)Ttt>Ctt p.F212L HNSC 12 99056236 99056236 + Missense_Mutation SNP C C T TCGA-QK-AA3J-01A-11D-A391-08 TCGA-QK-AA3J-10A-01D-A394-08 g.chr12:99056236C>T c.713C>T c.(712-714)tCt>tTt p.S238F HNSC 12 99056319 99056319 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 g.chr12:99056319G>T c.796G>T c.(796-798)Gac>Tac p.D266Y HNSC 12 99056498 99056498 + Missense_Mutation SNP A A G TCGA-CN-4739-01A-02D-1512-08 TCGA-CN-4739-10A-01D-1512-08 g.chr12:99056498A>G c.869A>G c.(868-870)aAa>aGa p.K290R HNSC 12 99056538 99056538 + Frame_Shift_Del DEL G G - TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 g.chr12:99056538delG c.909delG c.(907-909)aagfs p.K303fs HNSC 12 99060002 99060002 + Missense_Mutation SNP A A T TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 g.chr12:99060002A>T c.1229A>T c.(1228-1230)gAa>gTa p.E410V HNSC 12 99060113 99060113 + Missense_Mutation SNP A A G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 g.chr12:99060113A>G c.1340A>G c.(1339-1341)gAg>gGg p.E447G HNSC 12 99065373 99065373 + Nonsense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 g.chr12:99065373C>T c.1669C>T c.(1669-1671)Cga>Tga p.R557* HNSC 12 99077025 99077025 + Silent SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr12:99077025C>A c.2151C>A c.(2149-2151)gcC>gcA p.A717A HNSC 12 99077046 99077046 + Missense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr12:99077046C>A c.2172C>A c.(2170-2172)ttC>ttA p.F724L HNSC 12 99093306 99093306 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 g.chr12:99093306G>A c.2425G>A c.(2425-2427)Gat>Aat p.D809N KIPAN 12 99093184 99093184 + Splice_Site SNP A A C TCGA-P4-A5EB-01A-11D-A28G-10 TCGA-P4-A5EB-11A-11D-A28G-10 g.chr12:99093184A>C c.e17-1 KIPAN 12 99100325 99100325 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr12:99100325T>C c.2658T>C c.(2656-2658)caT>caC p.H886H KIPAN 12 99109218 99109218 + Frame_Shift_Del DEL T T - TCGA-SX-A71S-01A-11D-A33Q-10 TCGA-SX-A71S-10A-01D-A33Q-10 g.chr12:99109218delT c.2972delT c.(2971-2973)gtafs p.V991fs KIRC 12 99100325 99100325 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr12:99100325T>C c.2658T>C c.(2656-2658)caT>caC p.H886H KIRP 12 99093184 99093184 + Splice_Site SNP A A C TCGA-P4-A5EB-01A-11D-A28G-10 TCGA-P4-A5EB-11A-11D-A28G-10 g.chr12:99093184A>C c.e17-1 KIRP 12 99109218 99109218 + Frame_Shift_Del DEL T T - TCGA-SX-A71S-01A-11D-A33Q-10 TCGA-SX-A71S-10A-01D-A33Q-10 g.chr12:99109218delT c.2972delT c.(2971-2973)gtafs p.V991fs LGG 12 99059486 99059486 + Missense_Mutation SNP A A T TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 g.chr12:99059486A>T c.1111A>T c.(1111-1113)Agt>Tgt p.S371C LGG 12 99097198 99097198 + Missense_Mutation SNP A A G TCGA-S9-A6TY-01A-12D-A32B-08 TCGA-S9-A6TY-10A-01D-A329-08 g.chr12:99097198A>G c.2516A>G c.(2515-2517)cAt>cGt p.H839R LGG 12 99121056 99121056 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:99121056G>T c.3562G>T c.(3562-3564)Gat>Tat p.D1188Y LIHC 12 99042536 99042536 + Missense_Mutation SNP A A G TCGA-2Y-A9H3-01A-11D-A382-10 TCGA-2Y-A9H3-10A-01D-A385-10 g.chr12:99042536A>G c.271A>G c.(271-273)Att>Gtt p.I91V LIHC 12 99042548 99042548 + Missense_Mutation SNP T T C TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr12:99042548T>C c.283T>C c.(283-285)Tct>Cct p.S95P LIHC 12 99056270 99056270 + Missense_Mutation SNP G G T TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr12:99056270G>T c.747G>T c.(745-747)tgG>tgT p.W249C LIHC 12 99056329 99056329 + Missense_Mutation SNP T T C TCGA-G3-A3CG-01A-11D-A20W-10 TCGA-G3-A3CG-10A-01D-A20W-10 g.chr12:99056329T>C c.806T>C c.(805-807)gTt>gCt p.V269A LIHC 12 99060128 99060128 + Missense_Mutation SNP A A G TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr12:99060128A>G c.1355A>G c.(1354-1356)cAg>cGg p.Q452R LIHC 12 99071268 99071268 + Missense_Mutation SNP A A G TCGA-RC-A7SH-01A-11D-A382-10 TCGA-RC-A7SH-10A-01D-A385-10 g.chr12:99071268A>G c.1859A>G c.(1858-1860)cAt>cGt p.H620R LIHC 12 99117014 99117014 + Missense_Mutation SNP A A G TCGA-G3-A25U-01A-11D-A16V-10 TCGA-G3-A25U-10A-01D-A16V-10 g.chr12:99117014A>G c.3128A>G c.(3127-3129)cAt>cGt p.H1043R LIHC 12 99119233 99119233 + Frame_Shift_Del DEL G G - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr12:99119233delG c.3371delG c.(3370-3372)aggfs p.R1124fs LIHC 12 99121087 99121087 + Missense_Mutation SNP A A G TCGA-WJ-A86L-01A-12D-A45V-10 TCGA-WJ-A86L-10A-01D-A38X-10 g.chr12:99121087A>G c.3593A>G c.(3592-3594)tAt>tGt p.Y1198C LUAD 12 99042414 99042414 + Missense_Mutation SNP A A T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 g.chr12:99042414A>T c.149A>T c.(148-150)cAg>cTg p.Q50L LUAD 12 99052992 99052992 + Missense_Mutation SNP G G T TCGA-55-A492-01A-11D-A24D-08 TCGA-55-A492-10A-01D-A24F-08 g.chr12:99052992G>T c.581G>T c.(580-582)gGg>gTg p.G194V LUAD 12 99053024 99053024 + Silent SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 g.chr12:99053024C>A c.613C>A c.(613-615)Cgg>Agg p.R205R LUAD 12 99056294 99056294 + Silent SNP G G A TCGA-50-5044-01A-21D-1855-08 TCGA-50-5044-10A-01D-1855-08 g.chr12:99056294G>A c.771G>A c.(769-771)caG>caA p.Q257Q LUAD 12 99056506 99056506 + Missense_Mutation SNP G G A TCGA-MP-A4TD-01A-32D-A25L-08 TCGA-MP-A4TD-10A-01D-A25L-08 g.chr12:99056506G>A c.877G>A c.(877-879)Gaa>Aaa p.E293K LUAD 12 99059401 99059401 + Silent SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr12:99059401C>G c.1026C>G c.(1024-1026)ctC>ctG p.L342L LUAD 12 99061359 99061359 + Frame_Shift_Del DEL G G - TCGA-50-5045-01A-01D-1625-08 TCGA-50-5045-10A-01D-1625-08 g.chr12:99061359delG c.1431delG c.(1429-1431)cagfs p.Q477fs LUAD 12 99074148 99074148 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 g.chr12:99074148A>G c.2014A>G c.(2014-2016)Ata>Gta p.I672V LUAD 12 99076942 99076942 + Missense_Mutation SNP G G A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 g.chr12:99076942G>A c.2068G>A c.(2068-2070)Gaa>Aaa p.E690K LUAD 12 99093239 99093239 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr12:99093239C>G c.2358C>G c.(2356-2358)ttC>ttG p.F786L LUAD 12 99093342 99093342 + Missense_Mutation SNP A A G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 g.chr12:99093342A>G c.2461A>G c.(2461-2463)Atc>Gtc p.I821V LUAD 12 99097167 99097167 + Missense_Mutation SNP A A T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 g.chr12:99097167A>T c.2485A>T c.(2485-2487)Agt>Tgt p.S829C LUAD 12 99102470 99102470 + Silent SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 g.chr12:99102470A>T c.2829A>T c.(2827-2829)atA>atT p.I943I LUAD 12 99106159 99106159 + Silent SNP C C T TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr12:99106159C>T c.2904C>T c.(2902-2904)tgC>tgT p.C968C LUAD 12 99126216 99126216 + Missense_Mutation SNP G G T TCGA-55-8092-01A-11D-2238-08 TCGA-55-8092-10A-01D-2238-08 g.chr12:99126216G>T c.3619G>T c.(3619-3621)Ggg>Tgg p.G1207W LUSC 12 99042501 99042501 + Missense_Mutation SNP G G T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chr12:99042501G>T c.236G>T c.(235-237)gGa>gTa p.G79V LUSC 12 99056574 99056574 + Missense_Mutation SNP A A T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 g.chr12:99056574A>T c.945A>T c.(943-945)aaA>aaT p.K315N LUSC 12 99061383 99061383 + Missense_Mutation SNP C C G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 g.chr12:99061383C>G c.1455C>G c.(1453-1455)aaC>aaG p.N485K LUSC 12 99076989 99076989 + Silent SNP C C T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr12:99076989C>T c.2115C>T c.(2113-2115)tgC>tgT p.C705C LUSC 12 99077009 99077009 + Missense_Mutation SNP A A G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 g.chr12:99077009A>G c.2135A>G c.(2134-2136)cAt>cGt p.H712R OV 12 99043373 99043373 + Missense_Mutation SNP A A T TCGA-13-0923-01A-01W-0420-08 TCGA-13-0923-10A-01D-0399-08 g.chr12:99043373A>T c.437A>T c.(436-438)gAa>gTa p.E146V OV 12 99061363 99061363 + Missense_Mutation SNP G G A TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 g.chr12:99061363G>A c.1435G>A c.(1435-1437)Gac>Aac p.D479N PAAD 12 99053094 99053094 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:99053094G>A c.683G>A c.(682-684)cGc>cAc p.R228H PAAD 12 99059345 99059345 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:99059345G>A c.970G>A c.(970-972)Gta>Ata p.V324I PAAD 12 99071230 99071230 + Silent SNP C C A TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 g.chr12:99071230C>A c.1821C>A c.(1819-1821)tcC>tcA p.S607S PAAD 12 99074166 99074166 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:99074166G>A c.2032G>A c.(2032-2034)Gat>Aat p.D678N PCPG 12 99117515 99117515 + Silent SNP A A G TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 g.chr12:99117515A>G c.3303A>G c.(3301-3303)tcA>tcG p.S1101S PRAD 12 99043447 99043447 + Missense_Mutation SNP C C T TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 g.chr12:99043447C>T c.511C>T c.(511-513)Cat>Tat p.H171Y PRAD 12 99056478 99056478 + Missense_Mutation SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:99056478G>T c.849G>T c.(847-849)gaG>gaT p.E283D READ 12 99043328 99043328 + Missense_Mutation SNP A A G TCGA-DC-6155-01A-11D-1657-10 TCGA-DC-6155-10A-01D-1657-10 g.chr12:99043328A>G c.392A>G c.(391-393)aAg>aGg p.K131R READ 12 99043328 99043328 + Missense_Mutation SNP A A G TCGA-DY-A0XA-01A-11D-A152-10 TCGA-DY-A0XA-10A-01D-A152-10 g.chr12:99043328A>G c.392A>G c.(391-393)aAg>aGg p.K131R SKCM 12 99053033 99053033 + Nonsense_Mutation SNP C C T TCGA-EE-A185-06A-11D-A196-08 TCGA-EE-A185-10A-01D-A198-08 g.chr12:99053033C>T c.622C>T c.(622-624)Cag>Tag p.Q208* SKCM 12 99056253 99056253 + Missense_Mutation SNP G G C TCGA-RP-A694-06A-11D-A30X-08 TCGA-RP-A694-10A-01D-A30X-08 g.chr12:99056253G>C c.730G>C c.(730-732)Gat>Cat p.D244H SKCM 12 99060005 99060005 + Missense_Mutation SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr12:99060005T>C c.1232T>C c.(1231-1233)gTt>gCt p.V411A SKCM 12 99060038 99060038 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:99060038C>T c.1265C>T c.(1264-1266)tCt>tTt p.S422F SKCM 12 99060130 99060130 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 g.chr12:99060130C>T c.1357C>T c.(1357-1359)Ctt>Ttt p.L453F SKCM 12 99071326 99071326 + Missense_Mutation SNP A A T TCGA-EE-A3J3-06A-11D-A20D-08 TCGA-EE-A3J3-10A-01D-A20D-08 g.chr12:99071326A>T c.1917A>T c.(1915-1917)ttA>ttT p.L639F SKCM 12 99106141 99106141 + Silent SNP T T C TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr12:99106141T>C c.2886T>C c.(2884-2886)gcT>gcC p.A962A SKCM 12 99126212 99126212 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr12:99126212C>T c.3615C>T c.(3613-3615)gtC>gtT p.V1205V

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 12 99077004 99077004 single base substitution T C intron_variant ALL-US 12 99077004 99077004 single base substitution T C synonymous_variant S699S 2097T>C ALL-US 12 99077004 99077004 single base substitution T C synonymous_variant S710S 2130T>C BLCA-US 12 99038453 99038453 single base substitution C A upstream_gene_variant BLCA-US 12 99076995 99076995 single base substitution C T intron_variant BLCA-US 12 99076995 99076995 single base substitution C T synonymous_variant F696F 2088C>T BLCA-US 12 99076995 99076995 single base substitution C T synonymous_variant F707F 2121C>T BLCA-US 12 99120994 99120994 single base substitution C T intron_variant BLCA-US 12 99120994 99120994 single base substitution C T missense_variant P1082L 3245C>T BLCA-US 12 99120994 99120994 single base substitution C T missense_variant P1113L 3338C>T BLCA-US 12 99120994 99120994 single base substitution C T missense_variant P1124L 3371C>T BLCA-US 12 99120994 99120994 single base substitution C T missense_variant P1156L 3467C>T BLCA-US 12 99120994 99120994 single base substitution C T missense_variant P1167L 3500C>T BOCA-UK 12 99065458 99065458 single base substitution A G exon_variant BOCA-UK 12 99065458 99065458 single base substitution A G intron_variant BOCA-UK 12 99065458 99065458 single base substitution A G missense_variant K574R 1721A>G BOCA-UK 12 99065458 99065458 single base substitution A G missense_variant K585R 1754A>G BRCA-EU 12 99036236 99036236 single base substitution T G upstream_gene_variant BRCA-EU 12 99036652 99036652 single base substitution C A upstream_gene_variant BRCA-EU 12 99036950 99036950 single base substitution T C upstream_gene_variant BRCA-EU 12 99037323 99037323 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 99037548 99037548 single base substitution C G upstream_gene_variant BRCA-EU 12 99038907 99038907 single base substitution G T upstream_gene_variant BRCA-EU 12 99038908 99038908 single base substitution G T upstream_gene_variant BRCA-EU 12 99038932 99038932 single base substitution C G 5_prime_UTR_variant BRCA-EU 12 99038932 99038932 single base substitution C G upstream_gene_variant BRCA-EU 12 99039589 99039589 single base substitution C T 5_prime_UTR_variant BRCA-EU 12 99039589 99039589 single base substitution C T upstream_gene_variant BRCA-EU 12 99040030 99040030 single base substitution C G intron_variant BRCA-EU 12 99040030 99040030 single base substitution C G upstream_gene_variant BRCA-EU 12 99040926 99040926 single base substitution G T intron_variant BRCA-EU 12 99040926 99040926 single base substitution G T upstream_gene_variant BRCA-EU 12 99042394 99042394 deletion of <=200bp T - intron_variant BRCA-EU 12 99043643 99043643 single base substitution G T downstream_gene_variant BRCA-EU 12 99043643 99043643 single base substitution G T intron_variant BRCA-EU 12 99045247 99045247 single base substitution T C downstream_gene_variant BRCA-EU 12 99045247 99045247 single base substitution T C intron_variant BRCA-EU 12 99046774 99046774 single base substitution A T downstream_gene_variant BRCA-EU 12 99046774 99046774 single base substitution A T intron_variant BRCA-EU 12 99047177 99047177 single base substitution G A downstream_gene_variant BRCA-EU 12 99047177 99047177 single base substitution G A intron_variant BRCA-EU 12 99047848 99047848 single base substitution C G intron_variant BRCA-EU 12 99048261 99048261 single base substitution C G intron_variant BRCA-EU 12 99050971 99050971 single base substitution C G intron_variant BRCA-EU 12 99052240 99052240 single base substitution C G intron_variant BRCA-EU 12 99052366 99052366 single base substitution C G intron_variant BRCA-EU 12 99053351 99053351 single base substitution G A intron_variant BRCA-EU 12 99054766 99054766 single base substitution C T intron_variant BRCA-EU 12 99056133 99056133 single base substitution A T intron_variant BRCA-EU 12 99056238 99056238 single base substitution C T missense_variant L228F 682C>T BRCA-EU 12 99056238 99056238 single base substitution C T missense_variant L239F 715C>T BRCA-EU 12 99056359 99056359 single base substitution C T intron_variant BRCA-EU 12 99056612 99056612 single base substitution G C intron_variant BRCA-EU 12 99056835 99056835 single base substitution G A intron_variant BRCA-EU 12 99057078 99057078 single base substitution T C intron_variant BRCA-EU 12 99058599 99058599 single base substitution C T intron_variant BRCA-EU 12 99059163 99059163 deletion of <=200bp T - intron_variant BRCA-EU 12 99059465 99059465 single base substitution C G intron_variant BRCA-EU 12 99059465 99059465 single base substitution C G missense_variant L353V 1057C>G BRCA-EU 12 99059465 99059465 single base substitution C G missense_variant L364V 1090C>G BRCA-EU 12 99060073 99060073 single base substitution C T intron_variant BRCA-EU 12 99060073 99060073 single base substitution C T missense_variant R423C 1267C>T BRCA-EU 12 99060073 99060073 single base substitution C T missense_variant R434C 1300C>T BRCA-EU 12 99060073 99060073 single base substitution C T upstream_gene_variant BRCA-EU 12 99062635 99062635 single base substitution A T intron_variant BRCA-EU 12 99062635 99062635 single base substitution A T upstream_gene_variant BRCA-EU 12 99063845 99063845 single base substitution C G intron_variant BRCA-EU 12 99063845 99063845 single base substitution C G upstream_gene_variant BRCA-EU 12 99067634 99067634 single base substitution A T downstream_gene_variant BRCA-EU 12 99067634 99067634 single base substitution A T intron_variant BRCA-EU 12 99068024 99068024 single base substitution C A downstream_gene_variant BRCA-EU 12 99068024 99068024 single base substitution C A intron_variant BRCA-EU 12 99068109 99068109 single base substitution A C downstream_gene_variant BRCA-EU 12 99068109 99068109 single base substitution A C intron_variant BRCA-EU 12 99068763 99068763 single base substitution A G downstream_gene_variant BRCA-EU 12 99068763 99068763 single base substitution A G intron_variant BRCA-EU 12 99070580 99070580 single base substitution A G intron_variant BRCA-EU 12 99076120 99076120 single base substitution C T intron_variant BRCA-EU 12 99076497 99076497 single base substitution G A intron_variant BRCA-EU 12 99079963 99079963 single base substitution C G intron_variant BRCA-EU 12 99080734 99080734 single base substitution T G intron_variant BRCA-EU 12 99082292 99082292 single base substitution C G intron_variant BRCA-EU 12 99082466 99082466 single base substitution T A intron_variant BRCA-EU 12 99085511 99085511 deletion of <=200bp T - intron_variant BRCA-EU 12 99086112 99086112 single base substitution C T intron_variant BRCA-EU 12 99086893 99086893 single base substitution G T intron_variant BRCA-EU 12 99086989 99086989 single base substitution G C intron_variant BRCA-EU 12 99088391 99088391 single base substitution C G intron_variant BRCA-EU 12 99088391 99088391 single base substitution C G upstream_gene_variant BRCA-EU 12 99088915 99088915 single base substitution C T intron_variant BRCA-EU 12 99088915 99088915 single base substitution C T upstream_gene_variant BRCA-EU 12 99090018 99090018 single base substitution C T intron_variant BRCA-EU 12 99090018 99090018 single base substitution C T upstream_gene_variant BRCA-EU 12 99093488 99093488 single base substitution C G intron_variant BRCA-EU 12 99093618 99093618 single base substitution C T intron_variant BRCA-EU 12 99094783 99094783 insertion of <=200bp - C intron_variant BRCA-EU 12 99094845 99094845 single base substitution C G intron_variant BRCA-EU 12 99095285 99095285 single base substitution T C intron_variant BRCA-EU 12 99096280 99096280 single base substitution T G intron_variant BRCA-EU 12 99096619 99096619 single base substitution C G intron_variant BRCA-EU 12 99098001 99098001 single base substitution C A intron_variant BRCA-EU 12 99098328 99098328 single base substitution C T intron_variant BRCA-EU 12 99098725 99098725 deletion of <=200bp T - intron_variant BRCA-EU 12 99098885 99098885 single base substitution T C intron_variant BRCA-EU 12 99099928 99099928 insertion of <=200bp - T intron_variant BRCA-EU 12 99100873 99100873 insertion of <=200bp - T intron_variant BRCA-EU 12 99101179 99101179 single base substitution C A intron_variant BRCA-EU 12 99104502 99104502 single base substitution C G intron_variant BRCA-EU 12 99105942 99105942 single base substitution G A intron_variant BRCA-EU 12 99110216 99110216 single base substitution G A downstream_gene_variant BRCA-EU 12 99110216 99110216 single base substitution G A intron_variant BRCA-EU 12 99110491 99110491 single base substitution C A downstream_gene_variant BRCA-EU 12 99110491 99110491 single base substitution C A intron_variant BRCA-EU 12 99110795 99110795 single base substitution C T downstream_gene_variant BRCA-EU 12 99110795 99110795 single base substitution C T intron_variant BRCA-EU 12 99110810 99110810 single base substitution A G downstream_gene_variant BRCA-EU 12 99110810 99110810 single base substitution A G intron_variant BRCA-EU 12 99111240 99111240 single base substitution G A downstream_gene_variant BRCA-EU 12 99111240 99111240 single base substitution G A intron_variant BRCA-EU 12 99112177 99112177 single base substitution A T intron_variant BRCA-EU 12 99112177 99112177 single base substitution A T upstream_gene_variant BRCA-EU 12 99112225 99112225 single base substitution C A intron_variant BRCA-EU 12 99112225 99112225 single base substitution C A upstream_gene_variant BRCA-EU 12 99112244 99112244 single base substitution C G intron_variant BRCA-EU 12 99112244 99112244 single base substitution C G upstream_gene_variant BRCA-EU 12 99112250 99112250 single base substitution T C intron_variant BRCA-EU 12 99112250 99112250 single base substitution T C upstream_gene_variant BRCA-EU 12 99114000 99114000 single base substitution C G intron_variant BRCA-EU 12 99114000 99114000 single base substitution C G upstream_gene_variant BRCA-EU 12 99115205 99115205 single base substitution T C intron_variant BRCA-EU 12 99115205 99115205 single base substitution T C upstream_gene_variant BRCA-EU 12 99115585 99115585 insertion of <=200bp - A intron_variant BRCA-EU 12 99115585 99115585 insertion of <=200bp - A upstream_gene_variant BRCA-EU 12 99116454 99116454 single base substitution C G intron_variant BRCA-EU 12 99116454 99116454 single base substitution C G upstream_gene_variant BRCA-EU 12 99116563 99116563 single base substitution C T intron_variant BRCA-EU 12 99116563 99116563 single base substitution C T upstream_gene_variant BRCA-EU 12 99117053 99117053 single base substitution C G exon_variant BRCA-EU 12 99117053 99117053 single base substitution C G intron_variant BRCA-EU 12 99117053 99117053 single base substitution C G stop_gained S1002* 3005C>G BRCA-EU 12 99117053 99117053 single base substitution C G stop_gained S1013* 3038C>G BRCA-EU 12 99117053 99117053 single base substitution C G stop_gained S1045* 3134C>G BRCA-EU 12 99117053 99117053 single base substitution C G stop_gained S1056* 3167C>G BRCA-EU 12 99117209 99117209 single base substitution C T intron_variant BRCA-EU 12 99117578 99117578 single base substitution G C intron_variant BRCA-EU 12 99117934 99117934 single base substitution C G intron_variant BRCA-EU 12 99120528 99120528 single base substitution A T intron_variant BRCA-EU 12 99120653 99120653 single base substitution C T intron_variant BRCA-EU 12 99124513 99124513 single base substitution A C intron_variant BRCA-EU 12 99124513 99124513 single base substitution A C upstream_gene_variant BRCA-EU 12 99127851 99127851 single base substitution T A 3_prime_UTR_variant BRCA-EU 12 99127851 99127851 single base substitution T A downstream_gene_variant BRCA-EU 12 99127851 99127851 single base substitution T A exon_variant BRCA-EU 12 99127996 99127996 single base substitution C G 3_prime_UTR_variant BRCA-EU 12 99127996 99127996 single base substitution C G downstream_gene_variant BRCA-EU 12 99127996 99127996 single base substitution C G exon_variant BRCA-EU 12 99128250 99128250 single base substitution G A 3_prime_UTR_variant BRCA-EU 12 99128250 99128250 single base substitution G A downstream_gene_variant BRCA-EU 12 99128250 99128250 single base substitution G A exon_variant BRCA-EU 12 99130569 99130569 single base substitution C T downstream_gene_variant BRCA-EU 12 99131952 99131952 single base substitution T G downstream_gene_variant BRCA-EU 12 99133808 99133808 single base substitution C G downstream_gene_variant BRCA-FR 12 99038932 99038932 single base substitution C G 5_prime_UTR_variant BRCA-FR 12 99038932 99038932 single base substitution C G upstream_gene_variant BRCA-FR 12 99042042 99042042 single base substitution T A intron_variant BRCA-FR 12 99042042 99042042 single base substitution T A upstream_gene_variant BRCA-FR 12 99047177 99047177 single base substitution G A downstream_gene_variant BRCA-FR 12 99047177 99047177 single base substitution G A intron_variant BRCA-FR 12 99050971 99050971 single base substitution C G intron_variant BRCA-FR 12 99056682 99056682 single base substitution A T intron_variant BRCA-FR 12 99059465 99059465 single base substitution C G intron_variant BRCA-FR 12 99059465 99059465 single base substitution C G missense_variant L353V 1057C>G BRCA-FR 12 99059465 99059465 single base substitution C G missense_variant L364V 1090C>G BRCA-FR 12 99060073 99060073 single base substitution C T intron_variant BRCA-FR 12 99060073 99060073 single base substitution C T missense_variant R423C 1267C>T BRCA-FR 12 99060073 99060073 single base substitution C T missense_variant R434C 1300C>T BRCA-FR 12 99060073 99060073 single base substitution C T upstream_gene_variant BRCA-FR 12 99063845 99063845 single base substitution C G intron_variant BRCA-FR 12 99063845 99063845 single base substitution C G upstream_gene_variant BRCA-FR 12 99066601 99066601 single base substitution C G downstream_gene_variant BRCA-FR 12 99066601 99066601 single base substitution C G intron_variant BRCA-FR 12 99077815 99077815 single base substitution G T intron_variant BRCA-FR 12 99088391 99088391 single base substitution C G intron_variant BRCA-FR 12 99088391 99088391 single base substitution C G upstream_gene_variant BRCA-FR 12 99090018 99090018 single base substitution C T intron_variant BRCA-FR 12 99090018 99090018 single base substitution C T upstream_gene_variant BRCA-FR 12 99092222 99092222 single base substitution C G intron_variant BRCA-FR 12 99092222 99092222 single base substitution C G upstream_gene_variant BRCA-FR 12 99094845 99094845 single base substitution C G intron_variant BRCA-FR 12 99097261 99097261 single base substitution C A exon_variant BRCA-FR 12 99097261 99097261 single base substitution C A intron_variant BRCA-FR 12 99097261 99097261 single base substitution C A missense_variant S849Y 2546C>A BRCA-FR 12 99097261 99097261 single base substitution C A missense_variant S860Y 2579C>A BRCA-FR 12 99110491 99110491 single base substitution C A downstream_gene_variant BRCA-FR 12 99110491 99110491 single base substitution C A intron_variant BRCA-FR 12 99117934 99117934 single base substitution C G intron_variant BRCA-FR 12 99126912 99126912 single base substitution A C 3_prime_UTR_variant BRCA-FR 12 99126912 99126912 single base substitution A C downstream_gene_variant BRCA-FR 12 99126912 99126912 single base substitution A C upstream_gene_variant BRCA-FR 12 99133808 99133808 single base substitution C G downstream_gene_variant BRCA-UK 12 99039589 99039589 single base substitution C T 5_prime_UTR_variant BRCA-UK 12 99039589 99039589 single base substitution C T upstream_gene_variant BRCA-UK 12 99086555 99086555 single base substitution C T intron_variant BRCA-UK 12 99110518 99110518 single base substitution C G downstream_gene_variant BRCA-UK 12 99110518 99110518 single base substitution C G intron_variant BRCA-UK 12 99120070 99120070 single base substitution T C intron_variant BRCA-US 12 99042154 99042154 single base substitution G A missense_variant R6Q 17G>A BRCA-US 12 99042512 99042512 single base substitution C T missense_variant L83F 247C>T BRCA-US 12 99043418 99043418 single base substitution C G downstream_gene_variant BRCA-US 12 99043418 99043418 single base substitution C G missense_variant S150C 449C>G BRCA-US 12 99043418 99043418 single base substitution C G missense_variant S161C 482C>G BRCA-US 12 99043451 99043451 single base substitution C G downstream_gene_variant BRCA-US 12 99043451 99043451 single base substitution C G missense_variant S161C 482C>G BRCA-US 12 99043451 99043451 single base substitution C G missense_variant S172C 515C>G BRCA-US 12 99059461 99059461 single base substitution G T intron_variant BRCA-US 12 99059461 99059461 single base substitution G T missense_variant E351D 1053G>T BRCA-US 12 99059461 99059461 single base substitution G T missense_variant E362D 1086G>T BRCA-US 12 99065489 99065489 single base substitution G A downstream_gene_variant BRCA-US 12 99065489 99065489 single base substitution G A intron_variant BRCA-US 12 99065489 99065489 single base substitution G A synonymous_variant L584L 1752G>A BRCA-US 12 99065489 99065489 single base substitution G A synonymous_variant L595L 1785G>A BRCA-US 12 99074100 99074100 single base substitution C T intron_variant BRCA-US 12 99074100 99074100 single base substitution C T missense_variant H645Y 1933C>T BRCA-US 12 99074100 99074100 single base substitution C T missense_variant H656Y 1966C>T BRCA-US 12 99074109 99074109 single base substitution G A intron_variant BRCA-US 12 99074109 99074109 single base substitution G A missense_variant E648K 1942G>A BRCA-US 12 99074109 99074109 single base substitution G A missense_variant E659K 1975G>A BRCA-US 12 99074131 99074131 single base substitution C G intron_variant BRCA-US 12 99074131 99074131 single base substitution C G missense_variant S655C 1964C>G BRCA-US 12 99074131 99074131 single base substitution C G missense_variant S666C 1997C>G BRCA-US 12 99076931 99076931 single base substitution C A intron_variant BRCA-US 12 99076931 99076931 single base substitution C A missense_variant S675Y 2024C>A BRCA-US 12 99076931 99076931 single base substitution C A missense_variant S686Y 2057C>A BRCA-US 12 99080547 99080547 single base substitution G T intron_variant BRCA-US 12 99080547 99080547 single base substitution G T stop_gained E723* 2167G>T BRCA-US 12 99080547 99080547 single base substitution G T stop_gained E734* 2200G>T BRCA-US 12 99120975 99120977 deletion of <=200bp CTT - inframe_deletion L1076 BRCA-US 12 99120975 99120977 deletion of <=200bp CTT - inframe_deletion L1107 BRCA-US 12 99120975 99120977 deletion of <=200bp CTT - inframe_deletion L1118 BRCA-US 12 99120975 99120977 deletion of <=200bp CTT - inframe_deletion L1150 BRCA-US 12 99120975 99120977 deletion of <=200bp CTT - inframe_deletion L1161 BRCA-US 12 99120975 99120977 deletion of <=200bp CTT - intron_variant BRCA-US 12 99120975 99120977 deletion of <=200bp CTT - splice_region_variant BTCA-JP 12 99042394 99042394 deletion of <=200bp T - intron_variant BTCA-JP 12 99056221 99056221 single base substitution T G intron_variant BTCA-JP 12 99056359 99056359 single base substitution C T intron_variant BTCA-JP 12 99059551 99059551 single base substitution C T intron_variant BTCA-JP 12 99059551 99059551 single base substitution C T synonymous_variant D381D 1143C>T BTCA-JP 12 99059551 99059551 single base substitution C T synonymous_variant D392D 1176C>T BTCA-JP 12 99061338 99061338 single base substitution G A intron_variant BTCA-JP 12 99061338 99061338 single base substitution G A synonymous_variant P459P 1377G>A BTCA-JP 12 99061338 99061338 single base substitution G A synonymous_variant P470P 1410G>A BTCA-JP 12 99061338 99061338 single base substitution G A upstream_gene_variant BTCA-JP 12 99093390 99093390 single base substitution G A intron_variant BTCA-JP 12 99117048 99117048 single base substitution A C exon_variant BTCA-JP 12 99117048 99117048 single base substitution A C intron_variant BTCA-JP 12 99117048 99117048 single base substitution A C missense_variant K1000N 3000A>C BTCA-JP 12 99117048 99117048 single base substitution A C missense_variant K1011N 3033A>C BTCA-JP 12 99117048 99117048 single base substitution A C missense_variant K1043N 3129A>C BTCA-JP 12 99117048 99117048 single base substitution A C missense_variant K1054N 3162A>C BTCA-JP 12 99126103 99126103 deletion of <=200bp G - intron_variant BTCA-JP 12 99126103 99126103 deletion of <=200bp G - upstream_gene_variant CESC-US 12 99042547 99042547 single base substitution C T synonymous_variant V94V 282C>T CESC-US 12 99042552 99042552 single base substitution C T missense_variant S96F 287C>T CESC-US 12 99042620 99042620 single base substitution C T intron_variant CESC-US 12 99042620 99042620 single base substitution C T missense_variant L119F 355C>T CESC-US 12 99106099 99106099 single base substitution C T intron_variant CESC-US 12 99106099 99106099 single base substitution C T splice_region_variant CESC-US 12 99120964 99120964 single base substitution C G exon_variant CESC-US 12 99120964 99120964 single base substitution C G intron_variant CESC-US 12 99120964 99120964 single base substitution C G stop_gained S1072* 3215C>G CESC-US 12 99120964 99120964 single base substitution C G stop_gained S1103* 3308C>G CESC-US 12 99120964 99120964 single base substitution C G stop_gained S1114* 3341C>G CESC-US 12 99120964 99120964 single base substitution C G stop_gained S1146* 3437C>G CESC-US 12 99120964 99120964 single base substitution C G stop_gained S1157* 3470C>G CESC-US 12 99128516 99128516 single base substitution A T 3_prime_UTR_variant CESC-US 12 99128516 99128516 single base substitution A T downstream_gene_variant CESC-US 12 99128516 99128516 single base substitution A T exon_variant CLLE-ES 12 99038404 99038404 single base substitution C T upstream_gene_variant CLLE-ES 12 99089140 99089140 single base substitution C T intron_variant CLLE-ES 12 99089140 99089140 single base substitution C T upstream_gene_variant CLLE-ES 12 99109902 99109902 single base substitution C A downstream_gene_variant CLLE-ES 12 99109902 99109902 single base substitution C A intron_variant CLLE-ES 12 99114194 99114194 single base substitution G T intron_variant CLLE-ES 12 99114194 99114194 single base substitution G T upstream_gene_variant CLLE-ES 12 99121767 99121767 single base substitution A T intron_variant CLLE-ES 12 99126497 99126497 single base substitution A C 3_prime_UTR_variant CLLE-ES 12 99126497 99126497 single base substitution A C downstream_gene_variant CLLE-ES 12 99126497 99126497 single base substitution A C exon_variant CLLE-ES 12 99126497 99126497 single base substitution A C upstream_gene_variant COAD-US 12 99053087 99053087 single base substitution C T missense_variant R215C 643C>T COAD-US 12 99053087 99053087 single base substitution C T missense_variant R226C 676C>T COAD-US 12 99059362 99059362 single base substitution A G intron_variant COAD-US 12 99059362 99059362 single base substitution A G synonymous_variant A318A 954A>G COAD-US 12 99059362 99059362 single base substitution A G synonymous_variant A329A 987A>G COAD-US 12 99065435 99065435 single base substitution T G exon_variant COAD-US 12 99065435 99065435 single base substitution T G intron_variant COAD-US 12 99065435 99065435 single base substitution T G stop_gained Y566* 1698T>G COAD-US 12 99065435 99065435 single base substitution T G stop_gained Y577* 1731T>G COAD-US 12 99076932 99076932 single base substitution T C intron_variant COAD-US 12 99076932 99076932 single base substitution T C synonymous_variant S675S 2025T>C COAD-US 12 99076932 99076932 single base substitution T C synonymous_variant S686S 2058T>C COAD-US 12 99093197 99093197 single base substitution G A intron_variant COAD-US 12 99093197 99093197 single base substitution G A synonymous_variant A761A 2283G>A COAD-US 12 99093197 99093197 single base substitution G A synonymous_variant A772A 2316G>A COAD-US 12 99093197 99093197 single base substitution G A upstream_gene_variant COAD-US 12 99093239 99093239 deletion of <=200bp C - frameshift_variant F775 COAD-US 12 99093239 99093239 deletion of <=200bp C - frameshift_variant F786 COAD-US 12 99093239 99093239 deletion of <=200bp C - intron_variant COAD-US 12 99093239 99093239 deletion of <=200bp C - upstream_gene_variant COAD-US 12 99093246 99093246 single base substitution A T intron_variant COAD-US 12 99093246 99093246 single base substitution A T missense_variant N778Y 2332A>T COAD-US 12 99093246 99093246 single base substitution A T missense_variant N789Y 2365A>T COAD-US 12 99093246 99093246 single base substitution A T upstream_gene_variant COAD-US 12 99100282 99100282 single base substitution G A exon_variant COAD-US 12 99100282 99100282 single base substitution G A intron_variant COAD-US 12 99100282 99100282 single base substitution G A missense_variant R818H 2453G>A COAD-US 12 99100282 99100282 single base substitution G A missense_variant R829H 2486G>A COAD-US 12 99100282 99100282 single base substitution G A missense_variant R861H 2582G>A COAD-US 12 99100282 99100282 single base substitution G A missense_variant R872H 2615G>A COAD-US 12 99109286 99109286 single base substitution G A downstream_gene_variant COAD-US 12 99109286 99109286 single base substitution G A intron_variant COAD-US 12 99109286 99109286 single base substitution G A missense_variant D1003N 3007G>A COAD-US 12 99109286 99109286 single base substitution G A missense_variant D1014N 3040G>A COAD-US 12 99109286 99109286 single base substitution G A missense_variant D960N 2878G>A COAD-US 12 99109286 99109286 single base substitution G A missense_variant D971N 2911G>A COCA-CN 12 99042154 99042154 single base substitution G A missense_variant R6Q 17G>A COCA-CN 12 99042311 99042311 single base substitution A C intron_variant COCA-CN 12 99080642 99080642 single base substitution A G intron_variant COCA-CN 12 99080642 99080642 single base substitution A G synonymous_variant G754G 2262A>G COCA-CN 12 99080642 99080642 single base substitution A G synonymous_variant G765G 2295A>G COCA-CN 12 99093386 99093386 single base substitution G T intron_variant COCA-CN 12 99097275 99097275 single base substitution G A intron_variant COCA-CN 12 99097275 99097275 single base substitution G A missense_variant E854K 2560G>A COCA-CN 12 99097275 99097275 single base substitution G A missense_variant E865K 2593G>A COCA-CN 12 99097275 99097275 single base substitution G A splice_region_variant COCA-CN 12 99098555 99098555 single base substitution G T intron_variant COCA-CN 12 99114754 99114754 single base substitution G A intron_variant COCA-CN 12 99114754 99114754 single base substitution G A upstream_gene_variant COCA-CN 12 99116879 99116879 single base substitution G T intron_variant COCA-CN 12 99116879 99116879 single base substitution G T upstream_gene_variant ESAD-UK 12 99034358 99034358 single base substitution T G upstream_gene_variant ESAD-UK 12 99034784 99034784 single base substitution C T upstream_gene_variant ESAD-UK 12 99035228 99035228 single base substitution A T upstream_gene_variant ESAD-UK 12 99035955 99035955 single base substitution T G upstream_gene_variant ESAD-UK 12 99036208 99036208 single base substitution G A upstream_gene_variant ESAD-UK 12 99039402 99039402 single base substitution C T 5_prime_UTR_variant ESAD-UK 12 99039402 99039402 single base substitution C T upstream_gene_variant ESAD-UK 12 99041270 99041270 single base substitution C G intron_variant ESAD-UK 12 99041270 99041270 single base substitution C G upstream_gene_variant ESAD-UK 12 99041710 99041710 single base substitution G A intron_variant ESAD-UK 12 99041710 99041710 single base substitution G A upstream_gene_variant ESAD-UK 12 99045950 99045950 single base substitution C T downstream_gene_variant ESAD-UK 12 99045950 99045950 single base substitution C T intron_variant ESAD-UK 12 99046761 99046761 single base substitution G T downstream_gene_variant ESAD-UK 12 99046761 99046761 single base substitution G T intron_variant ESAD-UK 12 99049726 99049726 single base substitution T C intron_variant ESAD-UK 12 99053959 99053959 single base substitution C G intron_variant ESAD-UK 12 99057188 99057188 single base substitution C T intron_variant ESAD-UK 12 99063724 99063724 single base substitution T G intron_variant ESAD-UK 12 99063724 99063724 single base substitution T G upstream_gene_variant ESAD-UK 12 99066558 99066558 single base substitution G A downstream_gene_variant ESAD-UK 12 99066558 99066558 single base substitution G A intron_variant ESAD-UK 12 99066783 99066783 single base substitution G A downstream_gene_variant ESAD-UK 12 99066783 99066783 single base substitution G A intron_variant ESAD-UK 12 99071236 99071236 single base substitution A G intron_variant ESAD-UK 12 99071236 99071236 single base substitution A G synonymous_variant L598L 1794A>G ESAD-UK 12 99071236 99071236 single base substitution A G synonymous_variant L609L 1827A>G ESAD-UK 12 99071956 99071956 single base substitution C G intron_variant ESAD-UK 12 99073673 99073673 single base substitution C T intron_variant ESAD-UK 12 99081745 99081745 single base substitution A G intron_variant ESAD-UK 12 99082065 99082065 single base substitution A C intron_variant ESAD-UK 12 99082603 99082603 insertion of <=200bp - T intron_variant ESAD-UK 12 99085892 99085892 single base substitution G A intron_variant ESAD-UK 12 99086118 99086118 single base substitution C T intron_variant ESAD-UK 12 99086892 99086892 single base substitution A G intron_variant ESAD-UK 12 99087629 99087629 single base substitution T C intron_variant ESAD-UK 12 99088444 99088444 insertion of <=200bp - T intron_variant ESAD-UK 12 99088444 99088444 insertion of <=200bp - T upstream_gene_variant ESAD-UK 12 99089141 99089141 single base substitution T C intron_variant ESAD-UK 12 99089141 99089141 single base substitution T C upstream_gene_variant ESAD-UK 12 99090675 99090675 single base substitution A T intron_variant ESAD-UK 12 99090675 99090675 single base substitution A T upstream_gene_variant ESAD-UK 12 99093654 99093654 single base substitution A C intron_variant ESAD-UK 12 99094499 99094499 single base substitution T A intron_variant ESAD-UK 12 99095023 99095023 deletion of <=200bp T - intron_variant ESAD-UK 12 99096270 99096270 single base substitution T G intron_variant ESAD-UK 12 99096608 99096608 single base substitution G A intron_variant ESAD-UK 12 99096609 99096609 single base substitution A C intron_variant ESAD-UK 12 99098026 99098026 single base substitution G A intron_variant ESAD-UK 12 99098124 99098124 single base substitution C A intron_variant ESAD-UK 12 99102083 99102083 single base substitution C G intron_variant ESAD-UK 12 99102320 99102322 deletion of <=200bp TTA - intron_variant ESAD-UK 12 99104978 99104978 single base substitution C T intron_variant ESAD-UK 12 99106033 99106033 single base substitution C G intron_variant ESAD-UK 12 99110143 99110143 single base substitution T G downstream_gene_variant ESAD-UK 12 99110143 99110143 single base substitution T G intron_variant ESAD-UK 12 99110280 99110280 single base substitution C G downstream_gene_variant ESAD-UK 12 99110280 99110280 single base substitution C G intron_variant ESAD-UK 12 99110820 99110820 insertion of <=200bp - T downstream_gene_variant ESAD-UK 12 99110820 99110820 insertion of <=200bp - T intron_variant ESAD-UK 12 99111238 99111238 single base substitution C T downstream_gene_variant ESAD-UK 12 99111238 99111238 single base substitution C T intron_variant ESAD-UK 12 99112724 99112724 single base substitution G C intron_variant ESAD-UK 12 99112724 99112724 single base substitution G C upstream_gene_variant ESAD-UK 12 99113178 99113178 single base substitution A C intron_variant ESAD-UK 12 99113178 99113178 single base substitution A C upstream_gene_variant ESAD-UK 12 99113403 99113403 single base substitution T A intron_variant ESAD-UK 12 99113403 99113403 single base substitution T A upstream_gene_variant ESAD-UK 12 99114677 99114677 single base substitution G A intron_variant ESAD-UK 12 99114677 99114677 single base substitution G A upstream_gene_variant ESAD-UK 12 99115980 99115980 single base substitution A T intron_variant ESAD-UK 12 99115980 99115980 single base substitution A T upstream_gene_variant ESAD-UK 12 99118235 99118235 single base substitution C A intron_variant ESAD-UK 12 99120909 99120916 deletion of <=200bp CTGGATAA - intron_variant ESAD-UK 12 99120921 99120921 insertion of <=200bp - G intron_variant ESAD-UK 12 99121198 99121198 single base substitution G T intron_variant ESAD-UK 12 99130441 99130441 single base substitution C T downstream_gene_variant ESAD-UK 12 99132289 99132289 single base substitution G A downstream_gene_variant ESCA-CN 12 99059385 99059385 single base substitution G A intron_variant ESCA-CN 12 99059385 99059385 single base substitution G A missense_variant R326H 977G>A ESCA-CN 12 99059385 99059385 single base substitution G A missense_variant R337H 1010G>A ESCA-CN 12 99065350 99065350 single base substitution C G exon_variant ESCA-CN 12 99065350 99065350 single base substitution C G intron_variant ESCA-CN 12 99065350 99065350 single base substitution C G missense_variant S538C 1613C>G ESCA-CN 12 99065350 99065350 single base substitution C G missense_variant S549C 1646C>G ESCA-CN 12 99065452 99065452 single base substitution A T exon_variant ESCA-CN 12 99065452 99065452 single base substitution A T intron_variant ESCA-CN 12 99065452 99065452 single base substitution A T missense_variant Q572L 1715A>T ESCA-CN 12 99065452 99065452 single base substitution A T missense_variant Q583L 1748A>T ESCA-CN 12 99109296 99109297 deletion of <=200bp CT - downstream_gene_variant ESCA-CN 12 99109296 99109297 deletion of <=200bp CT - frameshift_variant T1006 ESCA-CN 12 99109296 99109297 deletion of <=200bp CT - frameshift_variant T1017 ESCA-CN 12 99109296 99109297 deletion of <=200bp CT - frameshift_variant T963 ESCA-CN 12 99109296 99109297 deletion of <=200bp CT - frameshift_variant T974 ESCA-CN 12 99109296 99109297 deletion of <=200bp CT - intron_variant ESCA-CN 12 99126274 99126274 single base substitution C T 3_prime_UTR_variant ESCA-CN 12 99126274 99126274 single base substitution C T exon_variant ESCA-CN 12 99126274 99126274 single base substitution C T missense_variant S1141F 3422C>T ESCA-CN 12 99126274 99126274 single base substitution C T missense_variant S1172F 3515C>T ESCA-CN 12 99126274 99126274 single base substitution C T missense_variant S1183F 3548C>T ESCA-CN 12 99126274 99126274 single base substitution C T missense_variant S1215F 3644C>T ESCA-CN 12 99126274 99126274 single base substitution C T missense_variant S1226F 3677C>T ESCA-CN 12 99126274 99126274 single base substitution C T upstream_gene_variant KIRP-US 12 99093184 99093184 single base substitution A C intron_variant KIRP-US 12 99093184 99093184 single base substitution A C splice_acceptor_variant KIRP-US 12 99093184 99093184 single base substitution A C upstream_gene_variant LAML-KR 12 99038549 99038549 single base substitution G A upstream_gene_variant LAML-KR 12 99041472 99041472 single base substitution A C intron_variant LAML-KR 12 99041472 99041472 single base substitution A C upstream_gene_variant LAML-KR 12 99048876 99048876 single base substitution T C intron_variant LAML-KR 12 99057838 99057838 single base substitution C T intron_variant LAML-KR 12 99060285 99060285 single base substitution A C intron_variant LAML-KR 12 99060285 99060285 single base substitution A C upstream_gene_variant LAML-KR 12 99061275 99061275 single base substitution T C intron_variant LAML-KR 12 99061275 99061275 single base substitution T C upstream_gene_variant LAML-KR 12 99116919 99116919 single base substitution A G intron_variant LAML-KR 12 99116919 99116919 single base substitution A G upstream_gene_variant LAML-KR 12 99120829 99120829 single base substitution T G intron_variant LIAD-FR 12 99077001 99077001 single base substitution C T intron_variant LIAD-FR 12 99077001 99077001 single base substitution C T synonymous_variant N698N 2094C>T LIAD-FR 12 99077001 99077001 single base substitution C T synonymous_variant N709N 2127C>T LICA-CN 12 99060037 99060037 single base substitution T C intron_variant LICA-CN 12 99060037 99060037 single base substitution T C missense_variant S411P 1231T>C LICA-CN 12 99060037 99060037 single base substitution T C missense_variant S422P 1264T>C LICA-CN 12 99060037 99060037 single base substitution T C upstream_gene_variant LICA-CN 12 99097147 99097147 single base substitution A T intron_variant LICA-CN 12 99097147 99097147 single base substitution A T splice_acceptor_variant LICA-FR 12 99036943 99036943 single base substitution C G upstream_gene_variant LICA-FR 12 99038450 99038450 single base substitution C T upstream_gene_variant LICA-FR 12 99040436 99040436 single base substitution G A intron_variant LICA-FR 12 99040436 99040436 single base substitution G A upstream_gene_variant LICA-FR 12 99041217 99041217 single base substitution C T intron_variant LICA-FR 12 99041217 99041217 single base substitution C T upstream_gene_variant LICA-FR 12 99044911 99044911 single base substitution C A downstream_gene_variant LICA-FR 12 99044911 99044911 single base substitution C A intron_variant LICA-FR 12 99059889 99059889 single base substitution T G intron_variant LICA-FR 12 99059889 99059889 single base substitution T G upstream_gene_variant LICA-FR 12 99061078 99061078 single base substitution A G intron_variant LICA-FR 12 99061078 99061078 single base substitution A G upstream_gene_variant LICA-FR 12 99069995 99069995 single base substitution T A downstream_gene_variant LICA-FR 12 99069995 99069995 single base substitution T A intron_variant LICA-FR 12 99077190 99077190 insertion of <=200bp - A intron_variant LICA-FR 12 99088556 99088556 single base substitution T C intron_variant LICA-FR 12 99088556 99088556 single base substitution T C upstream_gene_variant LICA-FR 12 99088850 99088850 single base substitution A T intron_variant LICA-FR 12 99088850 99088850 single base substitution A T upstream_gene_variant LICA-FR 12 99095707 99095707 single base substitution C A intron_variant LICA-FR 12 99096620 99096620 deletion of <=200bp A - intron_variant LICA-FR 12 99098594 99098594 single base substitution G T intron_variant LICA-FR 12 99102441 99102441 single base substitution G A exon_variant LICA-FR 12 99102441 99102441 single base substitution G A intron_variant LICA-FR 12 99102441 99102441 single base substitution G A missense_variant E880K 2638G>A LICA-FR 12 99102441 99102441 single base substitution G A missense_variant E891K 2671G>A LICA-FR 12 99102441 99102441 single base substitution G A missense_variant E923K 2767G>A LICA-FR 12 99102441 99102441 single base substitution G A missense_variant E934K 2800G>A LICA-FR 12 99126338 99126338 single base substitution A C 3_prime_UTR_variant LICA-FR 12 99126338 99126338 single base substitution A C exon_variant LICA-FR 12 99126338 99126338 single base substitution A C missense_variant L1162F 3486A>C LICA-FR 12 99126338 99126338 single base substitution A C missense_variant L1193F 3579A>C LICA-FR 12 99126338 99126338 single base substitution A C missense_variant L1204F 3612A>C LICA-FR 12 99126338 99126338 single base substitution A C missense_variant L1236F 3708A>C LICA-FR 12 99126338 99126338 single base substitution A C missense_variant L1247F 3741A>C LICA-FR 12 99126338 99126338 single base substitution A C upstream_gene_variant LICA-FR 12 99127735 99127735 single base substitution A G 3_prime_UTR_variant LICA-FR 12 99127735 99127735 single base substitution A G downstream_gene_variant LICA-FR 12 99127735 99127735 single base substitution A G exon_variant LICA-FR 12 99130346 99130346 single base substitution G A downstream_gene_variant LIHC-US 12 99060130 99060130 single base substitution C A intron_variant LIHC-US 12 99060130 99060130 single base substitution C A missense_variant L442I 1324C>A LIHC-US 12 99060130 99060130 single base substitution C A missense_variant L453I 1357C>A LIHC-US 12 99060130 99060130 single base substitution C A upstream_gene_variant LIHC-US 12 99061422 99061422 single base substitution G T intron_variant LIHC-US 12 99061422 99061422 single base substitution G T missense_variant K487N 1461G>T LIHC-US 12 99061422 99061422 single base substitution G T missense_variant K498N 1494G>T LIHC-US 12 99061422 99061422 single base substitution G T upstream_gene_variant LIHC-US 12 99117014 99117014 single base substitution A G intron_variant LIHC-US 12 99117014 99117014 single base substitution A G missense_variant H1000R 2999A>G LIHC-US 12 99117014 99117014 single base substitution A G missense_variant H1032R 3095A>G LIHC-US 12 99117014 99117014 single base substitution A G missense_variant H1043R 3128A>G LIHC-US 12 99117014 99117014 single base substitution A G missense_variant H989R 2966A>G LIHC-US 12 99117014 99117014 single base substitution A G upstream_gene_variant LIHC-US 12 99129364 99129364 single base substitution T C downstream_gene_variant LINC-JP 12 99037154 99037154 single base substitution T C upstream_gene_variant LINC-JP 12 99038725 99038725 single base substitution T A upstream_gene_variant LINC-JP 12 99077030 99077030 single base substitution G A intron_variant LINC-JP 12 99077030 99077030 single base substitution G A missense_variant G708E 2123G>A LINC-JP 12 99077030 99077030 single base substitution G A missense_variant G719E 2156G>A LINC-JP 12 99079250 99079250 single base substitution A G intron_variant LINC-JP 12 99080369 99080369 single base substitution T C intron_variant LINC-JP 12 99089107 99089107 single base substitution G A intron_variant LINC-JP 12 99089107 99089107 single base substitution G A upstream_gene_variant LINC-JP 12 99094772 99094772 deletion of <=200bp T - intron_variant LINC-JP 12 99106228 99106228 single base substitution T G exon_variant LINC-JP 12 99106228 99106228 single base substitution T G intron_variant LINC-JP 12 99109597 99109597 single base substitution G T downstream_gene_variant LINC-JP 12 99109597 99109597 single base substitution G T intron_variant LINC-JP 12 99111213 99111213 single base substitution G T downstream_gene_variant LINC-JP 12 99111213 99111213 single base substitution G T intron_variant LINC-JP 12 99117013 99117013 single base substitution C T intron_variant LINC-JP 12 99117013 99117013 single base substitution C T missense_variant H1000Y 2998C>T LINC-JP 12 99117013 99117013 single base substitution C T missense_variant H1032Y 3094C>T LINC-JP 12 99117013 99117013 single base substitution C T missense_variant H1043Y 3127C>T LINC-JP 12 99117013 99117013 single base substitution C T missense_variant H989Y 2965C>T LINC-JP 12 99117013 99117013 single base substitution C T upstream_gene_variant LINC-JP 12 99117021 99117021 single base substitution A T intron_variant LINC-JP 12 99117021 99117021 single base substitution A T missense_variant E1002D 3006A>T LINC-JP 12 99117021 99117021 single base substitution A T missense_variant E1034D 3102A>T LINC-JP 12 99117021 99117021 single base substitution A T missense_variant E1045D 3135A>T LINC-JP 12 99117021 99117021 single base substitution A T missense_variant E991D 2973A>T LINC-JP 12 99117021 99117021 single base substitution A T upstream_gene_variant LINC-JP 12 99119178 99119178 single base substitution C T intron_variant LIRI-JP 12 99035011 99035011 single base substitution T A upstream_gene_variant LIRI-JP 12 99036069 99036069 single base substitution G C upstream_gene_variant LIRI-JP 12 99037291 99037291 single base substitution T C upstream_gene_variant LIRI-JP 12 99039598 99039598 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 12 99039598 99039598 single base substitution A T upstream_gene_variant LIRI-JP 12 99040132 99040132 single base substitution T G intron_variant LIRI-JP 12 99040132 99040132 single base substitution T G upstream_gene_variant LIRI-JP 12 99042262 99042262 single base substitution A T missense_variant K42I 125A>T LIRI-JP 12 99042403 99042403 single base substitution G A splice_acceptor_variant LIRI-JP 12 99043145 99043145 single base substitution T G downstream_gene_variant LIRI-JP 12 99043145 99043145 single base substitution T G intron_variant LIRI-JP 12 99043711 99043711 single base substitution A G downstream_gene_variant LIRI-JP 12 99043711 99043711 single base substitution A G intron_variant LIRI-JP 12 99044879 99044879 single base substitution A T downstream_gene_variant LIRI-JP 12 99044879 99044879 single base substitution A T intron_variant LIRI-JP 12 99046817 99046817 single base substitution T C downstream_gene_variant LIRI-JP 12 99046817 99046817 single base substitution T C intron_variant LIRI-JP 12 99047326 99047326 single base substitution C T downstream_gene_variant LIRI-JP 12 99047326 99047326 single base substitution C T intron_variant LIRI-JP 12 99047744 99047744 single base substitution A T intron_variant LIRI-JP 12 99048223 99048223 single base substitution A T intron_variant LIRI-JP 12 99051463 99051463 single base substitution T C intron_variant LIRI-JP 12 99051698 99051698 single base substitution G T intron_variant LIRI-JP 12 99052310 99052310 single base substitution A G intron_variant LIRI-JP 12 99056288 99056291 deletion of <=200bp CAGT - frameshift_variant DS244 LIRI-JP 12 99056288 99056291 deletion of <=200bp CAGT - frameshift_variant DS255 LIRI-JP 12 99056575 99056575 single base substitution G T stop_gained E305* 913G>T LIRI-JP 12 99056575 99056575 single base substitution G T stop_gained E316* 946G>T LIRI-JP 12 99060211 99060211 single base substitution A G intron_variant LIRI-JP 12 99060211 99060211 single base substitution A G upstream_gene_variant LIRI-JP 12 99061334 99061334 single base substitution A G intron_variant LIRI-JP 12 99061334 99061334 single base substitution A G missense_variant Q458R 1373A>G LIRI-JP 12 99061334 99061334 single base substitution A G missense_variant Q469R 1406A>G LIRI-JP 12 99061334 99061334 single base substitution A G upstream_gene_variant LIRI-JP 12 99061865 99061865 single base substitution G A intron_variant LIRI-JP 12 99061865 99061865 single base substitution G A upstream_gene_variant LIRI-JP 12 99062566 99062566 single base substitution G T intron_variant LIRI-JP 12 99062566 99062566 single base substitution G T upstream_gene_variant LIRI-JP 12 99068065 99068065 single base substitution C T downstream_gene_variant LIRI-JP 12 99068065 99068065 single base substitution C T intron_variant LIRI-JP 12 99068264 99068264 single base substitution G A downstream_gene_variant LIRI-JP 12 99068264 99068264 single base substitution G A intron_variant LIRI-JP 12 99068806 99068806 single base substitution C T downstream_gene_variant LIRI-JP 12 99068806 99068806 single base substitution C T intron_variant LIRI-JP 12 99069129 99069129 single base substitution A T downstream_gene_variant LIRI-JP 12 99069129 99069129 single base substitution A T intron_variant LIRI-JP 12 99070246 99070246 single base substitution C T downstream_gene_variant LIRI-JP 12 99070246 99070246 single base substitution C T intron_variant LIRI-JP 12 99070751 99070751 single base substitution A G intron_variant LIRI-JP 12 99074024 99074024 single base substitution T A intron_variant LIRI-JP 12 99074025 99074025 single base substitution A T intron_variant LIRI-JP 12 99076758 99076758 single base substitution A G intron_variant LIRI-JP 12 99077897 99077897 single base substitution C T intron_variant LIRI-JP 12 99079237 99079237 single base substitution C G intron_variant LIRI-JP 12 99079283 99079283 single base substitution T G intron_variant LIRI-JP 12 99079492 99079492 single base substitution C T intron_variant LIRI-JP 12 99080595 99080595 single base substitution A G intron_variant LIRI-JP 12 99080595 99080595 single base substitution A G missense_variant R739G 2215A>G LIRI-JP 12 99080595 99080595 single base substitution A G missense_variant R750G 2248A>G LIRI-JP 12 99082682 99082682 single base substitution C T intron_variant LIRI-JP 12 99083487 99083487 single base substitution T G intron_variant LIRI-JP 12 99083491 99083491 single base substitution C G intron_variant LIRI-JP 12 99084583 99084583 single base substitution A C intron_variant LIRI-JP 12 99085594 99085594 single base substitution C A intron_variant LIRI-JP 12 99085795 99085795 single base substitution C T intron_variant LIRI-JP 12 99086576 99086576 single base substitution G C intron_variant LIRI-JP 12 99087625 99087625 single base substitution A T intron_variant LIRI-JP 12 99091531 99091531 single base substitution T C intron_variant LIRI-JP 12 99091531 99091531 single base substitution T C upstream_gene_variant LIRI-JP 12 99098186 99098186 single base substitution C T intron_variant LIRI-JP 12 99098857 99098857 single base substitution G T intron_variant LIRI-JP 12 99102254 99102254 single base substitution C T intron_variant LIRI-JP 12 99103003 99103003 single base substitution T G intron_variant LIRI-JP 12 99103168 99103168 single base substitution A C intron_variant LIRI-JP 12 99103873 99103873 single base substitution A C intron_variant LIRI-JP 12 99104090 99104090 single base substitution T C intron_variant LIRI-JP 12 99105839 99105839 single base substitution C T intron_variant LIRI-JP 12 99106209 99106209 single base substitution T G exon_variant LIRI-JP 12 99106209 99106209 single base substitution T G intron_variant LIRI-JP 12 99106209 99106209 single base substitution T G missense_variant I931S 2792T>G LIRI-JP 12 99106209 99106209 single base substitution T G missense_variant I942S 2825T>G LIRI-JP 12 99106209 99106209 single base substitution T G missense_variant I974S 2921T>G LIRI-JP 12 99106209 99106209 single base substitution T G missense_variant I985S 2954T>G LIRI-JP 12 99106341 99106341 single base substitution G T exon_variant LIRI-JP 12 99106341 99106341 single base substitution G T intron_variant LIRI-JP 12 99108604 99108604 single base substitution T C downstream_gene_variant LIRI-JP 12 99108604 99108604 single base substitution T C intron_variant LIRI-JP 12 99111892 99111892 single base substitution G T intron_variant LIRI-JP 12 99112072 99112072 single base substitution G A intron_variant LIRI-JP 12 99112072 99112072 single base substitution G A upstream_gene_variant LIRI-JP 12 99112326 99112326 single base substitution A G intron_variant LIRI-JP 12 99112326 99112326 single base substitution A G upstream_gene_variant LIRI-JP 12 99112671 99112671 single base substitution T A intron_variant LIRI-JP 12 99112671 99112671 single base substitution T A upstream_gene_variant LIRI-JP 12 99113223 99113223 single base substitution G T intron_variant LIRI-JP 12 99113223 99113223 single base substitution G T upstream_gene_variant LIRI-JP 12 99113314 99113314 single base substitution T A intron_variant LIRI-JP 12 99113314 99113314 single base substitution T A upstream_gene_variant LIRI-JP 12 99113791 99113791 single base substitution G T intron_variant LIRI-JP 12 99113791 99113791 single base substitution G T upstream_gene_variant LIRI-JP 12 99114198 99114198 single base substitution A T intron_variant LIRI-JP 12 99114198 99114198 single base substitution A T upstream_gene_variant LIRI-JP 12 99117859 99117859 single base substitution A G intron_variant LIRI-JP 12 99119844 99119844 single base substitution A G intron_variant LIRI-JP 12 99123754 99123754 single base substitution A G intron_variant LIRI-JP 12 99123754 99123754 single base substitution A G upstream_gene_variant LIRI-JP 12 99124724 99124724 single base substitution A C intron_variant LIRI-JP 12 99124724 99124724 single base substitution A C upstream_gene_variant LIRI-JP 12 99128638 99128638 single base substitution A T 3_prime_UTR_variant LIRI-JP 12 99128638 99128638 single base substitution A T downstream_gene_variant LIRI-JP 12 99128638 99128638 single base substitution A T intron_variant LIRI-JP 12 99129690 99129690 single base substitution C A downstream_gene_variant LUSC-KR 12 99034586 99034586 single base substitution G A upstream_gene_variant LUSC-KR 12 99036397 99036397 single base substitution G T upstream_gene_variant LUSC-KR 12 99042271 99042271 single base substitution A G missense_variant N45S 134A>G LUSC-KR 12 99043743 99043743 single base substitution A T downstream_gene_variant LUSC-KR 12 99043743 99043743 single base substitution A T intron_variant LUSC-KR 12 99046063 99046063 single base substitution A G downstream_gene_variant LUSC-KR 12 99046063 99046063 single base substitution A G intron_variant LUSC-KR 12 99049151 99049151 single base substitution G T intron_variant LUSC-KR 12 99053728 99053728 single base substitution G C intron_variant LUSC-KR 12 99062951 99062951 single base substitution A T intron_variant LUSC-KR 12 99062951 99062951 single base substitution A T upstream_gene_variant LUSC-KR 12 99062952 99062952 single base substitution G A intron_variant LUSC-KR 12 99062952 99062952 single base substitution G A upstream_gene_variant LUSC-KR 12 99066566 99066566 single base substitution C A downstream_gene_variant LUSC-KR 12 99066566 99066566 single base substitution C A intron_variant LUSC-KR 12 99067004 99067004 single base substitution A T downstream_gene_variant LUSC-KR 12 99067004 99067004 single base substitution A T intron_variant LUSC-KR 12 99071479 99071479 single base substitution C A intron_variant LUSC-KR 12 99072977 99072977 single base substitution C T intron_variant LUSC-KR 12 99080441 99080441 single base substitution G T intron_variant LUSC-KR 12 99083474 99083474 single base substitution G A intron_variant LUSC-KR 12 99092141 99092141 single base substitution A G intron_variant LUSC-KR 12 99092141 99092141 single base substitution A G upstream_gene_variant LUSC-KR 12 99093613 99093613 single base substitution C T intron_variant LUSC-KR 12 99095795 99095795 single base substitution G C intron_variant LUSC-KR 12 99101512 99101512 single base substitution A T intron_variant LUSC-KR 12 99102319 99102319 single base substitution G T intron_variant LUSC-KR 12 99103166 99103166 single base substitution C T intron_variant LUSC-KR 12 99105966 99105966 single base substitution G T intron_variant LUSC-KR 12 99106003 99106003 single base substitution G A intron_variant LUSC-KR 12 99106064 99106064 single base substitution C T intron_variant LUSC-KR 12 99108341 99108341 single base substitution G A downstream_gene_variant LUSC-KR 12 99108341 99108341 single base substitution G A intron_variant LUSC-KR 12 99108840 99108840 single base substitution A T downstream_gene_variant LUSC-KR 12 99108840 99108840 single base substitution A T intron_variant LUSC-KR 12 99110131 99110131 single base substitution A G downstream_gene_variant LUSC-KR 12 99110131 99110131 single base substitution A G intron_variant LUSC-KR 12 99111909 99111909 single base substitution C T intron_variant LUSC-KR 12 99112238 99112238 single base substitution C T intron_variant LUSC-KR 12 99112238 99112238 single base substitution C T upstream_gene_variant LUSC-KR 12 99114063 99114063 single base substitution T A intron_variant LUSC-KR 12 99114063 99114063 single base substitution T A upstream_gene_variant LUSC-KR 12 99114064 99114064 single base substitution C T intron_variant LUSC-KR 12 99114064 99114064 single base substitution C T upstream_gene_variant LUSC-KR 12 99116899 99116899 single base substitution A T intron_variant LUSC-KR 12 99116899 99116899 single base substitution A T upstream_gene_variant LUSC-KR 12 99119340 99119340 single base substitution G A intron_variant LUSC-KR 12 99126756 99126756 single base substitution C G 3_prime_UTR_variant LUSC-KR 12 99126756 99126756 single base substitution C G downstream_gene_variant LUSC-KR 12 99126756 99126756 single base substitution C G exon_variant LUSC-KR 12 99126756 99126756 single base substitution C G upstream_gene_variant LUSC-KR 12 99127062 99127062 single base substitution G T 3_prime_UTR_variant LUSC-KR 12 99127062 99127062 single base substitution G T downstream_gene_variant LUSC-KR 12 99127062 99127062 single base substitution G T upstream_gene_variant LUSC-KR 12 99132570 99132570 single base substitution G T downstream_gene_variant LUSC-US 12 99042501 99042501 single base substitution G T missense_variant G79V 236G>T LUSC-US 12 99056574 99056574 single base substitution A T missense_variant K304N 912A>T LUSC-US 12 99056574 99056574 single base substitution A T missense_variant K315N 945A>T LUSC-US 12 99061383 99061383 single base substitution C G intron_variant LUSC-US 12 99061383 99061383 single base substitution C G missense_variant N474K 1422C>G LUSC-US 12 99061383 99061383 single base substitution C G missense_variant N485K 1455C>G LUSC-US 12 99061383 99061383 single base substitution C G upstream_gene_variant LUSC-US 12 99076989 99076989 single base substitution C T intron_variant LUSC-US 12 99076989 99076989 single base substitution C T synonymous_variant C694C 2082C>T LUSC-US 12 99076989 99076989 single base substitution C T synonymous_variant C705C 2115C>T LUSC-US 12 99077009 99077009 single base substitution A G intron_variant LUSC-US 12 99077009 99077009 single base substitution A G missense_variant H701R 2102A>G LUSC-US 12 99077009 99077009 single base substitution A G missense_variant H712R 2135A>G MALY-DE 12 99034220 99034229 deletion of <=200bp CAAAACAAAA - upstream_gene_variant MALY-DE 12 99038100 99038100 single base substitution A G upstream_gene_variant MALY-DE 12 99044023 99044023 single base substitution C T downstream_gene_variant MALY-DE 12 99044023 99044023 single base substitution C T intron_variant MALY-DE 12 99044296 99044296 single base substitution T C downstream_gene_variant MALY-DE 12 99044296 99044296 single base substitution T C intron_variant MALY-DE 12 99056979 99056979 single base substitution A G intron_variant MALY-DE 12 99062252 99062252 single base substitution C G intron_variant MALY-DE 12 99062252 99062252 single base substitution C G upstream_gene_variant MALY-DE 12 99063209 99063209 single base substitution A T intron_variant MALY-DE 12 99063209 99063209 single base substitution A T upstream_gene_variant MALY-DE 12 99063287 99063287 single base substitution A G intron_variant MALY-DE 12 99063287 99063287 single base substitution A G upstream_gene_variant MALY-DE 12 99066087 99066087 single base substitution C T downstream_gene_variant MALY-DE 12 99066087 99066087 single base substitution C T intron_variant MALY-DE 12 99081200 99081200 single base substitution A G intron_variant MALY-DE 12 99081838 99081838 single base substitution G A intron_variant MALY-DE 12 99085196 99085196 single base substitution T C intron_variant MALY-DE 12 99085220 99085220 single base substitution T C intron_variant MALY-DE 12 99085222 99085222 single base substitution T G intron_variant MALY-DE 12 99085264 99085264 single base substitution T G intron_variant MALY-DE 12 99085285 99085285 single base substitution T A intron_variant MALY-DE 12 99085292 99085292 single base substitution T G intron_variant MALY-DE 12 99085300 99085300 single base substitution T C intron_variant MALY-DE 12 99085379 99085379 single base substitution T A intron_variant MALY-DE 12 99092690 99092690 single base substitution A G intron_variant MALY-DE 12 99092690 99092690 single base substitution A G upstream_gene_variant MALY-DE 12 99101471 99101472 deletion of <=200bp TA - intron_variant MALY-DE 12 99119208 99119208 single base substitution C T exon_variant MALY-DE 12 99119208 99119208 single base substitution C T intron_variant MALY-DE 12 99119208 99119208 single base substitution C T missense_variant L1062F 3184C>T MALY-DE 12 99119208 99119208 single base substitution C T missense_variant L1073F 3217C>T MALY-DE 12 99119208 99119208 single base substitution C T missense_variant L1105F 3313C>T MALY-DE 12 99119208 99119208 single base substitution C T missense_variant L1116F 3346C>T MALY-DE 12 99125617 99125617 single base substitution G T intron_variant MALY-DE 12 99125617 99125617 single base substitution G T upstream_gene_variant MELA-AU 12 99034259 99034259 single base substitution A G upstream_gene_variant MELA-AU 12 99034343 99034343 single base substitution T C upstream_gene_variant MELA-AU 12 99034833 99034833 single base substitution C T upstream_gene_variant MELA-AU 12 99035056 99035056 single base substitution G A upstream_gene_variant MELA-AU 12 99035608 99035608 single base substitution A G upstream_gene_variant MELA-AU 12 99037243 99037243 single base substitution G A upstream_gene_variant MELA-AU 12 99037517 99037517 single base substitution G A upstream_gene_variant MELA-AU 12 99037617 99037617 single base substitution G A upstream_gene_variant MELA-AU 12 99038806 99038806 single base substitution G A upstream_gene_variant MELA-AU 12 99041070 99041070 single base substitution C T intron_variant MELA-AU 12 99041070 99041070 single base substitution C T upstream_gene_variant MELA-AU 12 99041530 99041530 single base substitution C T intron_variant MELA-AU 12 99041530 99041530 single base substitution C T upstream_gene_variant MELA-AU 12 99041854 99041854 single base substitution T C intron_variant MELA-AU 12 99041854 99041854 single base substitution T C upstream_gene_variant MELA-AU 12 99042500 99042500 single base substitution G A missense_variant G79R 235G>A MELA-AU 12 99042556 99042556 single base substitution C A synonymous_variant S97S 291C>A MELA-AU 12 99043810 99043810 single base substitution C T downstream_gene_variant MELA-AU 12 99043810 99043810 single base substitution C T intron_variant MELA-AU 12 99044487 99044487 single base substitution C T downstream_gene_variant MELA-AU 12 99044487 99044487 single base substitution C T intron_variant MELA-AU 12 99044538 99044539 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 99044538 99044539 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 99044874 99044874 single base substitution C T downstream_gene_variant MELA-AU 12 99044874 99044874 single base substitution C T intron_variant MELA-AU 12 99045060 99045060 single base substitution C T downstream_gene_variant MELA-AU 12 99045060 99045060 single base substitution C T intron_variant MELA-AU 12 99045105 99045105 single base substitution C T downstream_gene_variant MELA-AU 12 99045105 99045105 single base substitution C T intron_variant MELA-AU 12 99045158 99045158 single base substitution G A downstream_gene_variant MELA-AU 12 99045158 99045158 single base substitution G A intron_variant MELA-AU 12 99045837 99045837 single base substitution C T downstream_gene_variant MELA-AU 12 99045837 99045837 single base substitution C T intron_variant MELA-AU 12 99046412 99046412 single base substitution T C downstream_gene_variant MELA-AU 12 99046412 99046412 single base substitution T C intron_variant MELA-AU 12 99046427 99046428 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 99046427 99046428 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 99046753 99046753 single base substitution T C downstream_gene_variant MELA-AU 12 99046753 99046753 single base substitution T C intron_variant MELA-AU 12 99047872 99047872 single base substitution C T intron_variant MELA-AU 12 99047873 99047873 single base substitution C T intron_variant MELA-AU 12 99047876 99047876 single base substitution C T intron_variant MELA-AU 12 99047983 99047983 single base substitution G A intron_variant MELA-AU 12 99048427 99048427 single base substitution C T intron_variant MELA-AU 12 99049399 99049399 single base substitution T G intron_variant MELA-AU 12 99049459 99049459 single base substitution C T intron_variant MELA-AU 12 99050269 99050269 single base substitution C T intron_variant MELA-AU 12 99051274 99051274 single base substitution C T intron_variant MELA-AU 12 99051410 99051410 single base substitution G A intron_variant MELA-AU 12 99051948 99051948 single base substitution G A intron_variant MELA-AU 12 99052928 99052928 single base substitution C T intron_variant MELA-AU 12 99053041 99053041 single base substitution G A synonymous_variant E199E 597G>A MELA-AU 12 99053041 99053041 single base substitution G A synonymous_variant E210E 630G>A MELA-AU 12 99053675 99053675 single base substitution C T intron_variant MELA-AU 12 99053841 99053841 single base substitution G A intron_variant MELA-AU 12 99053921 99053921 single base substitution C T intron_variant MELA-AU 12 99054216 99054216 single base substitution C T intron_variant MELA-AU 12 99056101 99056101 single base substitution C T intron_variant MELA-AU 12 99056351 99056351 single base substitution G C splice_region_variant MELA-AU 12 99057019 99057019 single base substitution C T intron_variant MELA-AU 12 99057599 99057599 single base substitution G A intron_variant MELA-AU 12 99057747 99057747 single base substitution C T intron_variant MELA-AU 12 99057857 99057857 single base substitution G C intron_variant MELA-AU 12 99058007 99058007 single base substitution G A intron_variant MELA-AU 12 99058023 99058023 single base substitution C T intron_variant MELA-AU 12 99058064 99058064 single base substitution G C intron_variant MELA-AU 12 99059569 99059569 single base substitution G A intron_variant MELA-AU 12 99059569 99059569 single base substitution G A splice_region_variant MELA-AU 12 99059980 99059980 single base substitution C T intron_variant MELA-AU 12 99059980 99059980 single base substitution C T missense_variant L392F 1174C>T MELA-AU 12 99059980 99059980 single base substitution C T missense_variant L403F 1207C>T MELA-AU 12 99059980 99059980 single base substitution C T upstream_gene_variant MELA-AU 12 99060068 99060068 single base substitution C T intron_variant MELA-AU 12 99060068 99060068 single base substitution C T missense_variant S421L 1262C>T MELA-AU 12 99060068 99060068 single base substitution C T missense_variant S432L 1295C>T MELA-AU 12 99060068 99060068 single base substitution C T upstream_gene_variant MELA-AU 12 99060166 99060166 single base substitution C T intron_variant MELA-AU 12 99060166 99060166 single base substitution C T upstream_gene_variant MELA-AU 12 99060344 99060344 single base substitution T C intron_variant MELA-AU 12 99060344 99060344 single base substitution T C upstream_gene_variant MELA-AU 12 99060481 99060481 single base substitution G A intron_variant MELA-AU 12 99060481 99060481 single base substitution G A upstream_gene_variant MELA-AU 12 99060537 99060537 single base substitution C T intron_variant MELA-AU 12 99060537 99060537 single base substitution C T upstream_gene_variant MELA-AU 12 99060877 99060877 insertion of <=200bp - TA intron_variant MELA-AU 12 99060877 99060877 insertion of <=200bp - TA upstream_gene_variant MELA-AU 12 99062103 99062103 single base substitution C T intron_variant MELA-AU 12 99062103 99062103 single base substitution C T upstream_gene_variant MELA-AU 12 99062148 99062148 single base substitution G T intron_variant MELA-AU 12 99062148 99062148 single base substitution G T upstream_gene_variant MELA-AU 12 99062276 99062276 single base substitution G A intron_variant MELA-AU 12 99062276 99062276 single base substitution G A upstream_gene_variant MELA-AU 12 99062680 99062680 single base substitution G A intron_variant MELA-AU 12 99062680 99062680 single base substitution G A upstream_gene_variant MELA-AU 12 99062759 99062759 single base substitution C T intron_variant MELA-AU 12 99062759 99062759 single base substitution C T upstream_gene_variant MELA-AU 12 99063659 99063659 single base substitution C T intron_variant MELA-AU 12 99063659 99063659 single base substitution C T upstream_gene_variant MELA-AU 12 99064132 99064132 single base substitution T A intron_variant MELA-AU 12 99064132 99064132 single base substitution T A upstream_gene_variant MELA-AU 12 99064160 99064160 single base substitution C T intron_variant MELA-AU 12 99064160 99064160 single base substitution C T upstream_gene_variant MELA-AU 12 99064928 99064928 single base substitution C A intron_variant MELA-AU 12 99065937 99065937 single base substitution T C downstream_gene_variant MELA-AU 12 99065937 99065937 single base substitution T C intron_variant MELA-AU 12 99066166 99066166 single base substitution C T downstream_gene_variant MELA-AU 12 99066166 99066166 single base substitution C T intron_variant MELA-AU 12 99066211 99066211 single base substitution G T downstream_gene_variant MELA-AU 12 99066211 99066211 single base substitution G T intron_variant MELA-AU 12 99066623 99066623 single base substitution C T downstream_gene_variant MELA-AU 12 99066623 99066623 single base substitution C T intron_variant MELA-AU 12 99067569 99067569 single base substitution C T downstream_gene_variant MELA-AU 12 99067569 99067569 single base substitution C T intron_variant MELA-AU 12 99068289 99068289 single base substitution T C downstream_gene_variant MELA-AU 12 99068289 99068289 single base substitution T C intron_variant MELA-AU 12 99069773 99069773 single base substitution T G downstream_gene_variant MELA-AU 12 99069773 99069773 single base substitution T G intron_variant MELA-AU 12 99071191 99071191 single base substitution C T intron_variant MELA-AU 12 99071576 99071576 single base substitution C T intron_variant MELA-AU 12 99072294 99072294 single base substitution C T intron_variant MELA-AU 12 99072499 99072499 single base substitution C T intron_variant MELA-AU 12 99073012 99073012 single base substitution C T intron_variant MELA-AU 12 99073412 99073412 single base substitution C T intron_variant MELA-AU 12 99073492 99073492 single base substitution C T intron_variant MELA-AU 12 99075235 99075235 single base substitution A G intron_variant MELA-AU 12 99075654 99075654 single base substitution G A intron_variant MELA-AU 12 99076244 99076244 single base substitution C T intron_variant MELA-AU 12 99077093 99077093 single base substitution C T intron_variant MELA-AU 12 99077426 99077426 single base substitution C A intron_variant MELA-AU 12 99077811 99077811 single base substitution T G intron_variant MELA-AU 12 99078270 99078270 single base substitution C T intron_variant MELA-AU 12 99078872 99078872 single base substitution C T intron_variant MELA-AU 12 99079888 99079888 single base substitution C T intron_variant MELA-AU 12 99079930 99079930 single base substitution C T intron_variant MELA-AU 12 99080240 99080240 single base substitution C T intron_variant MELA-AU 12 99080771 99080771 single base substitution C T intron_variant MELA-AU 12 99080806 99080806 single base substitution C T intron_variant MELA-AU 12 99081802 99081802 single base substitution C T intron_variant MELA-AU 12 99081920 99081921 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 99082606 99082606 single base substitution T A intron_variant MELA-AU 12 99082659 99082659 single base substitution C T intron_variant MELA-AU 12 99083835 99083835 single base substitution G A intron_variant MELA-AU 12 99084124 99084124 single base substitution C T intron_variant MELA-AU 12 99084469 99084469 single base substitution T A intron_variant MELA-AU 12 99084619 99084619 single base substitution C T intron_variant MELA-AU 12 99084687 99084687 single base substitution C T intron_variant MELA-AU 12 99085575 99085575 single base substitution C T intron_variant MELA-AU 12 99085752 99085752 single base substitution C T intron_variant MELA-AU 12 99085984 99085984 single base substitution C T intron_variant MELA-AU 12 99086531 99086531 single base substitution C T intron_variant MELA-AU 12 99086667 99086667 single base substitution C T intron_variant MELA-AU 12 99087488 99087488 single base substitution C T intron_variant MELA-AU 12 99087576 99087576 single base substitution T A intron_variant MELA-AU 12 99088778 99088778 single base substitution A T intron_variant MELA-AU 12 99088778 99088778 single base substitution A T upstream_gene_variant MELA-AU 12 99088793 99088793 single base substitution C T intron_variant MELA-AU 12 99088793 99088793 single base substitution C T upstream_gene_variant MELA-AU 12 99089071 99089071 single base substitution C T intron_variant MELA-AU 12 99089071 99089071 single base substitution C T upstream_gene_variant MELA-AU 12 99089253 99089253 single base substitution C T intron_variant MELA-AU 12 99089253 99089253 single base substitution C T upstream_gene_variant MELA-AU 12 99089309 99089309 single base substitution G A intron_variant MELA-AU 12 99089309 99089309 single base substitution G A upstream_gene_variant MELA-AU 12 99089422 99089422 single base substitution C T intron_variant MELA-AU 12 99089422 99089422 single base substitution C T upstream_gene_variant MELA-AU 12 99089516 99089516 single base substitution G A intron_variant MELA-AU 12 99089516 99089516 single base substitution G A upstream_gene_variant MELA-AU 12 99089654 99089654 single base substitution C T intron_variant MELA-AU 12 99089654 99089654 single base substitution C T upstream_gene_variant MELA-AU 12 99089806 99089806 single base substitution C T intron_variant MELA-AU 12 99089806 99089806 single base substitution C T upstream_gene_variant MELA-AU 12 99089809 99089809 single base substitution C T intron_variant MELA-AU 12 99089809 99089809 single base substitution C T upstream_gene_variant MELA-AU 12 99090323 99090323 single base substitution C T intron_variant MELA-AU 12 99090323 99090323 single base substitution C T upstream_gene_variant MELA-AU 12 99090922 99090922 single base substitution G T intron_variant MELA-AU 12 99090922 99090922 single base substitution G T upstream_gene_variant MELA-AU 12 99090964 99090964 single base substitution A C intron_variant MELA-AU 12 99090964 99090964 single base substitution A C upstream_gene_variant MELA-AU 12 99091245 99091245 single base substitution C T intron_variant MELA-AU 12 99091245 99091245 single base substitution C T upstream_gene_variant MELA-AU 12 99091338 99091338 single base substitution C T intron_variant MELA-AU 12 99091338 99091338 single base substitution C T upstream_gene_variant MELA-AU 12 99091561 99091561 single base substitution C T intron_variant MELA-AU 12 99091561 99091561 single base substitution C T upstream_gene_variant MELA-AU 12 99093252 99093252 single base substitution G A intron_variant MELA-AU 12 99093252 99093252 single base substitution G A missense_variant E780K 2338G>A MELA-AU 12 99093252 99093252 single base substitution G A missense_variant E791K 2371G>A MELA-AU 12 99093252 99093252 single base substitution G A upstream_gene_variant MELA-AU 12 99093743 99093743 single base substitution G A intron_variant MELA-AU 12 99094371 99094371 single base substitution A T intron_variant MELA-AU 12 99095364 99095364 single base substitution C T intron_variant MELA-AU 12 99096485 99096485 single base substitution C T intron_variant MELA-AU 12 99097211 99097211 single base substitution C T exon_variant MELA-AU 12 99097211 99097211 single base substitution C T intron_variant MELA-AU 12 99097211 99097211 single base substitution C T synonymous_variant I832I 2496C>T MELA-AU 12 99097211 99097211 single base substitution C T synonymous_variant I843I 2529C>T MELA-AU 12 99097643 99097643 single base substitution C T intron_variant MELA-AU 12 99097798 99097798 single base substitution G A intron_variant MELA-AU 12 99097988 99097988 single base substitution C T intron_variant MELA-AU 12 99098048 99098048 single base substitution A C intron_variant MELA-AU 12 99098195 99098195 single base substitution C T intron_variant MELA-AU 12 99099141 99099141 single base substitution C T intron_variant MELA-AU 12 99099182 99099182 single base substitution T C intron_variant MELA-AU 12 99099834 99099834 single base substitution C T intron_variant MELA-AU 12 99100160 99100160 single base substitution C T intron_variant MELA-AU 12 99101072 99101072 single base substitution C T intron_variant MELA-AU 12 99102259 99102259 single base substitution C T intron_variant MELA-AU 12 99102716 99102716 single base substitution C T intron_variant MELA-AU 12 99102998 99102998 single base substitution T C intron_variant MELA-AU 12 99103165 99103165 single base substitution C T intron_variant MELA-AU 12 99104020 99104020 single base substitution G A intron_variant MELA-AU 12 99104151 99104151 single base substitution C T intron_variant MELA-AU 12 99104163 99104163 single base substitution C T intron_variant MELA-AU 12 99104427 99104427 single base substitution C T intron_variant MELA-AU 12 99104722 99104722 single base substitution C T intron_variant MELA-AU 12 99104975 99104975 single base substitution C T intron_variant MELA-AU 12 99105019 99105019 single base substitution C T intron_variant MELA-AU 12 99105149 99105149 single base substitution C T intron_variant MELA-AU 12 99105168 99105168 deletion of <=200bp T - intron_variant MELA-AU 12 99105826 99105826 single base substitution C T intron_variant MELA-AU 12 99106033 99106033 single base substitution C T intron_variant MELA-AU 12 99106771 99106771 insertion of <=200bp - T downstream_gene_variant MELA-AU 12 99106771 99106771 insertion of <=200bp - T intron_variant MELA-AU 12 99106973 99106973 single base substitution C T downstream_gene_variant MELA-AU 12 99106973 99106973 single base substitution C T intron_variant MELA-AU 12 99109577 99109577 single base substitution C T downstream_gene_variant MELA-AU 12 99109577 99109577 single base substitution C T intron_variant MELA-AU 12 99110119 99110119 single base substitution C T downstream_gene_variant MELA-AU 12 99110119 99110119 single base substitution C T intron_variant MELA-AU 12 99110265 99110265 single base substitution C T downstream_gene_variant MELA-AU 12 99110265 99110265 single base substitution C T intron_variant MELA-AU 12 99110403 99110403 single base substitution C T downstream_gene_variant MELA-AU 12 99110403 99110403 single base substitution C T intron_variant MELA-AU 12 99111174 99111174 single base substitution A G downstream_gene_variant MELA-AU 12 99111174 99111174 single base substitution A G intron_variant MELA-AU 12 99111996 99111996 single base substitution C T intron_variant MELA-AU 12 99112004 99112004 single base substitution T A intron_variant MELA-AU 12 99112025 99112025 single base substitution C T intron_variant MELA-AU 12 99112358 99112358 single base substitution G A intron_variant MELA-AU 12 99112358 99112358 single base substitution G A upstream_gene_variant MELA-AU 12 99112499 99112499 single base substitution A G intron_variant MELA-AU 12 99112499 99112499 single base substitution A G upstream_gene_variant MELA-AU 12 99113880 99113880 single base substitution A G intron_variant MELA-AU 12 99113880 99113880 single base substitution A G upstream_gene_variant MELA-AU 12 99115907 99115907 single base substitution C T intron_variant MELA-AU 12 99115907 99115907 single base substitution C T upstream_gene_variant MELA-AU 12 99117086 99117086 single base substitution T G exon_variant MELA-AU 12 99117086 99117086 single base substitution T G intron_variant MELA-AU 12 99117086 99117086 single base substitution T G missense_variant V1013G 3038T>G MELA-AU 12 99117086 99117086 single base substitution T G missense_variant V1024G 3071T>G MELA-AU 12 99117086 99117086 single base substitution T G missense_variant V1056G 3167T>G MELA-AU 12 99117086 99117086 single base substitution T G missense_variant V1067G 3200T>G MELA-AU 12 99117781 99117781 single base substitution A G intron_variant MELA-AU 12 99118998 99118998 single base substitution T A intron_variant MELA-AU 12 99119045 99119045 single base substitution A T intron_variant MELA-AU 12 99119448 99119448 single base substitution T A intron_variant MELA-AU 12 99120180 99120181 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 99120508 99120508 single base substitution C T intron_variant MELA-AU 12 99120879 99120879 single base substitution C T intron_variant MELA-AU 12 99121252 99121252 single base substitution G A intron_variant MELA-AU 12 99121359 99121359 single base substitution T C intron_variant MELA-AU 12 99121643 99121643 single base substitution C T intron_variant MELA-AU 12 99123408 99123408 single base substitution C T intron_variant MELA-AU 12 99123408 99123408 single base substitution C T upstream_gene_variant MELA-AU 12 99124375 99124375 single base substitution A T intron_variant MELA-AU 12 99124375 99124375 single base substitution A T upstream_gene_variant MELA-AU 12 99124698 99124698 single base substitution A T intron_variant MELA-AU 12 99124698 99124698 single base substitution A T upstream_gene_variant MELA-AU 12 99124841 99124841 single base substitution C T intron_variant MELA-AU 12 99124841 99124841 single base substitution C T upstream_gene_variant MELA-AU 12 99126427 99126427 single base substitution T C 3_prime_UTR_variant MELA-AU 12 99126427 99126427 single base substitution T C downstream_gene_variant MELA-AU 12 99126427 99126427 single base substitution T C exon_variant MELA-AU 12 99126427 99126427 single base substitution T C upstream_gene_variant MELA-AU 12 99127130 99127130 single base substitution C T 3_prime_UTR_variant MELA-AU 12 99127130 99127130 single base substitution C T downstream_gene_variant MELA-AU 12 99127130 99127130 single base substitution C T upstream_gene_variant MELA-AU 12 99127457 99127457 single base substitution C T 3_prime_UTR_variant MELA-AU 12 99127457 99127457 single base substitution C T downstream_gene_variant MELA-AU 12 99127457 99127457 single base substitution C T exon_variant MELA-AU 12 99127659 99127659 single base substitution C T 3_prime_UTR_variant MELA-AU 12 99127659 99127659 single base substitution C T downstream_gene_variant MELA-AU 12 99127659 99127659 single base substitution C T exon_variant MELA-AU 12 99127730 99127730 single base substitution T A 3_prime_UTR_variant MELA-AU 12 99127730 99127730 single base substitution T A downstream_gene_variant MELA-AU 12 99127730 99127730 single base substitution T A exon_variant MELA-AU 12 99127814 99127814 single base substitution A C 3_prime_UTR_variant MELA-AU 12 99127814 99127814 single base substitution A C downstream_gene_variant MELA-AU 12 99127814 99127814 single base substitution A C exon_variant MELA-AU 12 99128012 99128012 single base substitution C T 3_prime_UTR_variant MELA-AU 12 99128012 99128012 single base substitution C T downstream_gene_variant MELA-AU 12 99128012 99128012 single base substitution C T exon_variant MELA-AU 12 99128026 99128026 single base substitution T A 3_prime_UTR_variant MELA-AU 12 99128026 99128026 single base substitution T A downstream_gene_variant MELA-AU 12 99128026 99128026 single base substitution T A exon_variant MELA-AU 12 99128829 99128829 single base substitution C T 3_prime_UTR_variant MELA-AU 12 99128829 99128829 single base substitution C T downstream_gene_variant MELA-AU 12 99128829 99128829 single base substitution C T exon_variant MELA-AU 12 99129352 99129352 single base substitution G A downstream_gene_variant MELA-AU 12 99129621 99129621 single base substitution T C downstream_gene_variant MELA-AU 12 99129861 99129861 single base substitution G T downstream_gene_variant MELA-AU 12 99129872 99129873 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 99130133 99130133 single base substitution A T downstream_gene_variant MELA-AU 12 99130145 99130145 single base substitution T C downstream_gene_variant MELA-AU 12 99130185 99130185 single base substitution C T downstream_gene_variant MELA-AU 12 99130875 99130875 single base substitution C T downstream_gene_variant MELA-AU 12 99131055 99131055 single base substitution C T downstream_gene_variant MELA-AU 12 99132167 99132167 single base substitution G A downstream_gene_variant MELA-AU 12 99132232 99132232 single base substitution G A downstream_gene_variant MELA-AU 12 99132415 99132416 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 99132426 99132426 single base substitution C T downstream_gene_variant MELA-AU 12 99132715 99132715 single base substitution C T downstream_gene_variant MELA-AU 12 99132771 99132771 single base substitution C T downstream_gene_variant MELA-AU 12 99132986 99132986 single base substitution C T downstream_gene_variant MELA-AU 12 99133428 99133428 single base substitution C A downstream_gene_variant MELA-AU 12 99133439 99133439 single base substitution C T downstream_gene_variant MELA-AU 12 99133613 99133613 single base substitution C T downstream_gene_variant MELA-AU 12 99134104 99134104 single base substitution C T downstream_gene_variant ORCA-IN 12 99054107 99054107 single base substitution G A intron_variant ORCA-IN 12 99060628 99060630 deletion of <=200bp TTT - intron_variant ORCA-IN 12 99060628 99060630 deletion of <=200bp TTT - upstream_gene_variant ORCA-IN 12 99095389 99095389 single base substitution A T intron_variant ORCA-IN 12 99096310 99096310 single base substitution G A intron_variant ORCA-IN 12 99097068 99097068 single base substitution A G intron_variant ORCA-IN 12 99102462 99102462 single base substitution G A exon_variant ORCA-IN 12 99102462 99102462 single base substitution G A intron_variant ORCA-IN 12 99102462 99102462 single base substitution G A missense_variant D887N 2659G>A ORCA-IN 12 99102462 99102462 single base substitution G A missense_variant D898N 2692G>A ORCA-IN 12 99102462 99102462 single base substitution G A missense_variant D930N 2788G>A ORCA-IN 12 99102462 99102462 single base substitution G A missense_variant D941N 2821G>A ORCA-IN 12 99129944 99129944 single base substitution T C downstream_gene_variant OV-AU 12 99039747 99039747 single base substitution G T intron_variant OV-AU 12 99039747 99039747 single base substitution G T upstream_gene_variant OV-AU 12 99057273 99057273 single base substitution T C intron_variant OV-AU 12 99057765 99057765 single base substitution A T intron_variant OV-AU 12 99061433 99061433 single base substitution C A intron_variant OV-AU 12 99061433 99061433 single base substitution C A upstream_gene_variant OV-AU 12 99065828 99065828 single base substitution C G downstream_gene_variant OV-AU 12 99065828 99065828 single base substitution C G intron_variant OV-AU 12 99072525 99072525 single base substitution T A intron_variant OV-AU 12 99081550 99081550 single base substitution C T intron_variant OV-AU 12 99082726 99082726 single base substitution G T intron_variant OV-AU 12 99082745 99082745 single base substitution C G intron_variant OV-AU 12 99082800 99082800 single base substitution C T intron_variant OV-AU 12 99085846 99085846 single base substitution G T intron_variant OV-AU 12 99097627 99097627 single base substitution C T intron_variant OV-AU 12 99114303 99114303 single base substitution C A intron_variant OV-AU 12 99114303 99114303 single base substitution C A upstream_gene_variant OV-AU 12 99117660 99117660 single base substitution G C intron_variant OV-AU 12 99118441 99118441 single base substitution A G intron_variant OV-AU 12 99123517 99123517 single base substitution G A intron_variant OV-AU 12 99123517 99123517 single base substitution G A upstream_gene_variant OV-AU 12 99123804 99123804 single base substitution C T intron_variant OV-AU 12 99123804 99123804 single base substitution C T upstream_gene_variant OV-AU 12 99132624 99132624 single base substitution C T downstream_gene_variant PACA-AU 12 99036378 99036378 single base substitution T C upstream_gene_variant PACA-AU 12 99038280 99038280 single base substitution G A upstream_gene_variant PACA-AU 12 99041067 99041067 single base substitution A C intron_variant PACA-AU 12 99041067 99041067 single base substitution A C upstream_gene_variant PACA-AU 12 99051672 99051672 single base substitution C G intron_variant PACA-AU 12 99056122 99056122 deletion of <=200bp T - intron_variant PACA-AU 12 99057821 99057821 single base substitution C T intron_variant PACA-AU 12 99061146 99061146 single base substitution G A intron_variant PACA-AU 12 99061146 99061146 single base substitution G A upstream_gene_variant PACA-AU 12 99067492 99067492 single base substitution A C downstream_gene_variant PACA-AU 12 99067492 99067492 single base substitution A C intron_variant PACA-AU 12 99069360 99069360 single base substitution C T downstream_gene_variant PACA-AU 12 99069360 99069360 single base substitution C T intron_variant PACA-AU 12 99080389 99080389 single base substitution G A intron_variant PACA-AU 12 99085490 99085490 single base substitution T C intron_variant PACA-AU 12 99086187 99086187 single base substitution T A intron_variant PACA-AU 12 99091217 99091217 single base substitution G A intron_variant PACA-AU 12 99091217 99091217 single base substitution G A upstream_gene_variant PACA-AU 12 99099734 99099734 single base substitution G A intron_variant PACA-AU 12 99110657 99110657 single base substitution T G downstream_gene_variant PACA-AU 12 99110657 99110657 single base substitution T G intron_variant PACA-AU 12 99111958 99111958 deletion of <=200bp T - intron_variant PACA-AU 12 99113033 99113033 single base substitution G A intron_variant PACA-AU 12 99113033 99113033 single base substitution G A upstream_gene_variant PACA-AU 12 99117660 99117660 single base substitution G A intron_variant PACA-AU 12 99117802 99117802 single base substitution C T intron_variant PACA-AU 12 99121744 99121744 single base substitution A T intron_variant PACA-AU 12 99123365 99123365 single base substitution C T intron_variant PACA-AU 12 99123365 99123365 single base substitution C T upstream_gene_variant PACA-AU 12 99124988 99124988 single base substitution G A intron_variant PACA-AU 12 99124988 99124988 single base substitution G A upstream_gene_variant PACA-CA 12 99034047 99034047 single base substitution T C upstream_gene_variant PACA-CA 12 99038199 99038199 single base substitution C T upstream_gene_variant PACA-CA 12 99049298 99049298 single base substitution C T intron_variant PACA-CA 12 99053859 99053859 single base substitution C T intron_variant PACA-CA 12 99055258 99055258 single base substitution T A intron_variant PACA-CA 12 99056218 99056218 single base substitution T A intron_variant PACA-CA 12 99062402 99062402 deletion of <=200bp T - intron_variant PACA-CA 12 99062402 99062402 deletion of <=200bp T - upstream_gene_variant PACA-CA 12 99063839 99063839 single base substitution C T intron_variant PACA-CA 12 99063839 99063839 single base substitution C T upstream_gene_variant PACA-CA 12 99067235 99067235 single base substitution C A downstream_gene_variant PACA-CA 12 99067235 99067235 single base substitution C A intron_variant PACA-CA 12 99068227 99068227 insertion of <=200bp - TG downstream_gene_variant PACA-CA 12 99068227 99068227 insertion of <=200bp - TG intron_variant PACA-CA 12 99069919 99069919 single base substitution G A downstream_gene_variant PACA-CA 12 99069919 99069919 single base substitution G A intron_variant PACA-CA 12 99070011 99070011 single base substitution A T downstream_gene_variant PACA-CA 12 99070011 99070011 single base substitution A T intron_variant PACA-CA 12 99071206 99071206 insertion of <=200bp - A frameshift_variant N588K? PACA-CA 12 99071206 99071206 insertion of <=200bp - A frameshift_variant N599K? PACA-CA 12 99071206 99071206 insertion of <=200bp - A intron_variant PACA-CA 12 99072129 99072129 single base substitution C T intron_variant PACA-CA 12 99074078 99074078 single base substitution G C intron_variant PACA-CA 12 99074078 99074078 single base substitution G C missense_variant E637D 1911G>C PACA-CA 12 99074078 99074078 single base substitution G C missense_variant E648D 1944G>C PACA-CA 12 99075137 99075137 single base substitution G T intron_variant PACA-CA 12 99080554 99080554 single base substitution G A intron_variant PACA-CA 12 99080554 99080554 single base substitution G A missense_variant R725Q 2174G>A PACA-CA 12 99080554 99080554 single base substitution G A missense_variant R736Q 2207G>A PACA-CA 12 99083242 99083243 deletion of <=200bp GT - intron_variant PACA-CA 12 99083260 99083260 single base substitution G T intron_variant PACA-CA 12 99087851 99087851 single base substitution A T intron_variant PACA-CA 12 99088736 99088736 deletion of <=200bp T - intron_variant PACA-CA 12 99088736 99088736 deletion of <=200bp T - upstream_gene_variant PACA-CA 12 99089967 99089967 single base substitution T A intron_variant PACA-CA 12 99089967 99089967 single base substitution T A upstream_gene_variant PACA-CA 12 99090371 99090371 single base substitution A G intron_variant PACA-CA 12 99090371 99090371 single base substitution A G upstream_gene_variant PACA-CA 12 99093273 99093273 single base substitution G A intron_variant PACA-CA 12 99093273 99093273 single base substitution G A missense_variant E787K 2359G>A PACA-CA 12 99093273 99093273 single base substitution G A missense_variant E798K 2392G>A PACA-CA 12 99093273 99093273 single base substitution G A upstream_gene_variant PACA-CA 12 99101259 99101259 single base substitution C G intron_variant PACA-CA 12 99106822 99106822 single base substitution C G downstream_gene_variant PACA-CA 12 99106822 99106822 single base substitution C G intron_variant PACA-CA 12 99110095 99110095 single base substitution G A downstream_gene_variant PACA-CA 12 99110095 99110095 single base substitution G A intron_variant PACA-CA 12 99111133 99111133 single base substitution C T downstream_gene_variant PACA-CA 12 99111133 99111133 single base substitution C T intron_variant PACA-CA 12 99112111 99112111 single base substitution A G intron_variant PACA-CA 12 99112111 99112111 single base substitution A G upstream_gene_variant PACA-CA 12 99118305 99118305 single base substitution G A intron_variant PACA-CA 12 99118856 99118856 single base substitution C A intron_variant PACA-CA 12 99130904 99130904 single base substitution G C downstream_gene_variant PACA-CA 12 99131157 99131157 single base substitution T G downstream_gene_variant PACA-CA 12 99133434 99133434 single base substitution C T downstream_gene_variant PAEN-AU 12 99061635 99061635 single base substitution A C intron_variant PAEN-AU 12 99061635 99061635 single base substitution A C upstream_gene_variant PAEN-AU 12 99081628 99081628 single base substitution C T intron_variant PAEN-AU 12 99085372 99085372 single base substitution G A intron_variant PAEN-AU 12 99110332 99110332 single base substitution C G downstream_gene_variant PAEN-AU 12 99110332 99110332 single base substitution C G intron_variant PAEN-IT 12 99121752 99121752 single base substitution T A intron_variant PBCA-DE 12 99041058 99041058 single base substitution T G intron_variant PBCA-DE 12 99041058 99041058 single base substitution T G upstream_gene_variant PBCA-DE 12 99050038 99050038 single base substitution C T intron_variant PBCA-DE 12 99055169 99055169 insertion of <=200bp - T intron_variant PBCA-DE 12 99058729 99058729 single base substitution A C intron_variant PBCA-DE 12 99091082 99091082 single base substitution T G intron_variant PBCA-DE 12 99091082 99091082 single base substitution T G upstream_gene_variant PBCA-DE 12 99101471 99101471 insertion of <=200bp - TA intron_variant PBCA-DE 12 99101471 99101472 deletion of <=200bp TA - intron_variant PBCA-DE 12 99105934 99105934 single base substitution T G intron_variant PBCA-DE 12 99110847 99110847 single base substitution C T downstream_gene_variant PBCA-DE 12 99110847 99110847 single base substitution C T intron_variant PBCA-DE 12 99114343 99114343 single base substitution G T intron_variant PBCA-DE 12 99114343 99114343 single base substitution G T upstream_gene_variant PBCA-DE 12 99116684 99116684 deletion of <=200bp T - intron_variant PBCA-DE 12 99116684 99116684 deletion of <=200bp T - upstream_gene_variant PBCA-DE 12 99127945 99127945 single base substitution T C 3_prime_UTR_variant PBCA-DE 12 99127945 99127945 single base substitution T C downstream_gene_variant PBCA-DE 12 99127945 99127945 single base substitution T C exon_variant PRAD-CA 12 99046036 99046036 single base substitution T A downstream_gene_variant PRAD-CA 12 99046036 99046036 single base substitution T A intron_variant PRAD-CA 12 99063194 99063194 single base substitution T A intron_variant PRAD-CA 12 99063194 99063194 single base substitution T A upstream_gene_variant PRAD-CA 12 99065956 99065956 single base substitution T A downstream_gene_variant PRAD-CA 12 99065956 99065956 single base substitution T A intron_variant PRAD-CA 12 99067235 99067235 single base substitution C A downstream_gene_variant PRAD-CA 12 99067235 99067235 single base substitution C A intron_variant PRAD-CA 12 99088722 99088722 single base substitution G T intron_variant PRAD-CA 12 99088722 99088722 single base substitution G T upstream_gene_variant PRAD-UK 12 99056443 99056443 single base substitution T C intron_variant PRAD-UK 12 99063165 99063165 insertion of <=200bp - A intron_variant PRAD-UK 12 99063165 99063165 insertion of <=200bp - A upstream_gene_variant PRAD-UK 12 99065786 99065786 single base substitution G T downstream_gene_variant PRAD-UK 12 99065786 99065786 single base substitution G T intron_variant PRAD-UK 12 99088474 99088474 single base substitution A G intron_variant PRAD-UK 12 99088474 99088474 single base substitution A G upstream_gene_variant PRAD-UK 12 99097653 99097653 single base substitution G C intron_variant PRAD-UK 12 99112440 99112440 single base substitution G A intron_variant PRAD-UK 12 99112440 99112440 single base substitution G A upstream_gene_variant PRAD-UK 12 99121798 99121798 insertion of <=200bp - A intron_variant PRAD-US 12 99043447 99043447 single base substitution C T downstream_gene_variant PRAD-US 12 99043447 99043447 single base substitution C T missense_variant H160Y 478C>T PRAD-US 12 99043447 99043447 single base substitution C T missense_variant H171Y 511C>T READ-US 12 99059385 99059385 single base substitution G A intron_variant READ-US 12 99059385 99059385 single base substitution G A missense_variant R326H 977G>A READ-US 12 99059385 99059385 single base substitution G A missense_variant R337H 1010G>A READ-US 12 99060041 99060042 deletion of <=200bp TT - frameshift_variant L412 READ-US 12 99060041 99060042 deletion of <=200bp TT - frameshift_variant L423 READ-US 12 99060041 99060042 deletion of <=200bp TT - intron_variant READ-US 12 99060041 99060042 deletion of <=200bp TT - upstream_gene_variant RECA-EU 12 99045315 99045315 single base substitution G C downstream_gene_variant RECA-EU 12 99045315 99045315 single base substitution G C intron_variant RECA-EU 12 99048349 99048349 single base substitution C T intron_variant RECA-EU 12 99049906 99049906 single base substitution A T intron_variant RECA-EU 12 99050326 99050326 single base substitution C T intron_variant RECA-EU 12 99051439 99051439 single base substitution G A intron_variant RECA-EU 12 99053305 99053305 single base substitution G A intron_variant RECA-EU 12 99053306 99053306 single base substitution G T intron_variant RECA-EU 12 99053549 99053549 single base substitution A G intron_variant RECA-EU 12 99059681 99059681 single base substitution G T intron_variant RECA-EU 12 99059681 99059681 single base substitution G T upstream_gene_variant RECA-EU 12 99066108 99066108 single base substitution A G downstream_gene_variant RECA-EU 12 99066108 99066108 single base substitution A G intron_variant RECA-EU 12 99067840 99067840 single base substitution C A downstream_gene_variant RECA-EU 12 99067840 99067840 single base substitution C A intron_variant RECA-EU 12 99073436 99073436 single base substitution C T intron_variant RECA-EU 12 99077489 99077489 single base substitution T A intron_variant RECA-EU 12 99083241 99083241 single base substitution A T intron_variant RECA-EU 12 99085275 99085275 single base substitution G C intron_variant RECA-EU 12 99087442 99087442 single base substitution A G intron_variant RECA-EU 12 99111042 99111042 single base substitution T A downstream_gene_variant RECA-EU 12 99111042 99111042 single base substitution T A intron_variant RECA-EU 12 99115580 99115580 single base substitution G A intron_variant RECA-EU 12 99115580 99115580 single base substitution G A upstream_gene_variant SKCA-BR 12 99034863 99034863 single base substitution G A upstream_gene_variant SKCA-BR 12 99045428 99045428 single base substitution T C downstream_gene_variant SKCA-BR 12 99045428 99045428 single base substitution T C intron_variant SKCA-BR 12 99045444 99045444 single base substitution G T downstream_gene_variant SKCA-BR 12 99045444 99045444 single base substitution G T intron_variant SKCA-BR 12 99045667 99045667 single base substitution C T downstream_gene_variant SKCA-BR 12 99045667 99045667 single base substitution C T intron_variant SKCA-BR 12 99046075 99046075 single base substitution C T downstream_gene_variant SKCA-BR 12 99046075 99046075 single base substitution C T intron_variant SKCA-BR 12 99047465 99047465 single base substitution A T downstream_gene_variant SKCA-BR 12 99047465 99047465 single base substitution A T intron_variant SKCA-BR 12 99047467 99047467 single base substitution A T downstream_gene_variant SKCA-BR 12 99047467 99047467 single base substitution A T intron_variant SKCA-BR 12 99049354 99049354 single base substitution C T intron_variant SKCA-BR 12 99049663 99049663 single base substitution A C intron_variant SKCA-BR 12 99059033 99059035 deletion of <=200bp CAT - intron_variant SKCA-BR 12 99059058 99059058 single base substitution T A intron_variant SKCA-BR 12 99060166 99060166 single base substitution C T intron_variant SKCA-BR 12 99060166 99060166 single base substitution C T upstream_gene_variant SKCA-BR 12 99060981 99060981 single base substitution C T intron_variant SKCA-BR 12 99060981 99060981 single base substitution C T upstream_gene_variant SKCA-BR 12 99060982 99060982 single base substitution C T intron_variant SKCA-BR 12 99060982 99060982 single base substitution C T upstream_gene_variant SKCA-BR 12 99062678 99062678 single base substitution A G intron_variant SKCA-BR 12 99062678 99062678 single base substitution A G upstream_gene_variant SKCA-BR 12 99065931 99065935 deletion of <=200bp TTTTA - downstream_gene_variant SKCA-BR 12 99065931 99065935 deletion of <=200bp TTTTA - intron_variant SKCA-BR 12 99066139 99066139 single base substitution C T downstream_gene_variant SKCA-BR 12 99066139 99066139 single base substitution C T intron_variant SKCA-BR 12 99066602 99066602 single base substitution C T downstream_gene_variant SKCA-BR 12 99066602 99066602 single base substitution C T intron_variant SKCA-BR 12 99067220 99067220 insertion of <=200bp - CAA downstream_gene_variant SKCA-BR 12 99067220 99067220 insertion of <=200bp - CAA intron_variant SKCA-BR 12 99071023 99071023 single base substitution T C intron_variant SKCA-BR 12 99072254 99072254 single base substitution C T intron_variant SKCA-BR 12 99077147 99077147 single base substitution C T intron_variant SKCA-BR 12 99082248 99082249 deletion of <=200bp CT - intron_variant SKCA-BR 12 99096603 99096603 single base substitution G T intron_variant SKCA-BR 12 99098080 99098080 single base substitution C T intron_variant SKCA-BR 12 99101491 99101491 single base substitution C T intron_variant SKCA-BR 12 99102009 99102009 single base substitution C T intron_variant SKCA-BR 12 99102010 99102010 single base substitution C G intron_variant SKCA-BR 12 99105754 99105754 single base substitution C T intron_variant SKCA-BR 12 99106404 99106404 single base substitution C T exon_variant SKCA-BR 12 99106404 99106404 single base substitution C T intron_variant SKCA-BR 12 99115255 99115255 single base substitution C T intron_variant SKCA-BR 12 99115255 99115255 single base substitution C T upstream_gene_variant SKCA-BR 12 99115476 99115476 single base substitution C T intron_variant SKCA-BR 12 99115476 99115476 single base substitution C T upstream_gene_variant SKCA-BR 12 99117374 99117374 single base substitution C T intron_variant SKCA-BR 12 99120417 99120417 single base substitution G T intron_variant SKCA-BR 12 99131677 99131677 single base substitution T C downstream_gene_variant SKCA-BR 12 99132789 99132789 single base substitution C T downstream_gene_variant SKCA-BR 12 99134007 99134007 single base substitution C T downstream_gene_variant SKCM-US 12 99053033 99053033 single base substitution C T stop_gained Q197* 589C>T SKCM-US 12 99053033 99053033 single base substitution C T stop_gained Q208* 622C>T SKCM-US 12 99056253 99056253 single base substitution G C missense_variant D233H 697G>C SKCM-US 12 99056253 99056253 single base substitution G C missense_variant D244H 730G>C SKCM-US 12 99060005 99060005 single base substitution T C intron_variant SKCM-US 12 99060005 99060005 single base substitution T C missense_variant V400A 1199T>C SKCM-US 12 99060005 99060005 single base substitution T C missense_variant V411A 1232T>C SKCM-US 12 99060005 99060005 single base substitution T C upstream_gene_variant SKCM-US 12 99060038 99060038 single base substitution C T intron_variant SKCM-US 12 99060038 99060038 single base substitution C T missense_variant S411F 1232C>T SKCM-US 12 99060038 99060038 single base substitution C T missense_variant S422F 1265C>T SKCM-US 12 99060038 99060038 single base substitution C T upstream_gene_variant SKCM-US 12 99060130 99060130 single base substitution C T intron_variant SKCM-US 12 99060130 99060130 single base substitution C T missense_variant L442F 1324C>T SKCM-US 12 99060130 99060130 single base substitution C T missense_variant L453F 1357C>T SKCM-US 12 99060130 99060130 single base substitution C T upstream_gene_variant SKCM-US 12 99071326 99071326 single base substitution A T intron_variant SKCM-US 12 99071326 99071326 single base substitution A T missense_variant L628F 1884A>T SKCM-US 12 99071326 99071326 single base substitution A T missense_variant L639F 1917A>T SKCM-US 12 99106141 99106141 single base substitution T C exon_variant SKCM-US 12 99106141 99106141 single base substitution T C intron_variant SKCM-US 12 99106141 99106141 single base substitution T C synonymous_variant A908A 2724T>C SKCM-US 12 99106141 99106141 single base substitution T C synonymous_variant A919A 2757T>C SKCM-US 12 99106141 99106141 single base substitution T C synonymous_variant A951A 2853T>C SKCM-US 12 99106141 99106141 single base substitution T C synonymous_variant A962A 2886T>C SKCM-US 12 99126212 99126212 single base substitution C T exon_variant SKCM-US 12 99126212 99126212 single base substitution C T missense_variant H324Y 970C>T SKCM-US 12 99126212 99126212 single base substitution C T synonymous_variant V1120V 3360C>T SKCM-US 12 99126212 99126212 single base substitution C T synonymous_variant V1151V 3453C>T SKCM-US 12 99126212 99126212 single base substitution C T synonymous_variant V1162V 3486C>T SKCM-US 12 99126212 99126212 single base substitution C T synonymous_variant V1194V 3582C>T SKCM-US 12 99126212 99126212 single base substitution C T synonymous_variant V1205V 3615C>T SKCM-US 12 99126212 99126212 single base substitution C T upstream_gene_variant STAD-US 12 99042569 99042569 single base substitution T G intron_variant STAD-US 12 99042569 99042569 single base substitution T G missense_variant S102A 304T>G STAD-US 12 99053038 99053038 single base substitution T C synonymous_variant D198D 594T>C STAD-US 12 99053038 99053038 single base substitution T C synonymous_variant D209D 627T>C STAD-US 12 99061338 99061338 single base substitution G A intron_variant STAD-US 12 99061338 99061338 single base substitution G A synonymous_variant P459P 1377G>A STAD-US 12 99061338 99061338 single base substitution G A synonymous_variant P470P 1410G>A STAD-US 12 99061338 99061338 single base substitution G A upstream_gene_variant STAD-US 12 99071207 99071207 insertion of <=200bp - A frameshift_variant K589K? STAD-US 12 99071207 99071207 insertion of <=200bp - A frameshift_variant K600K? STAD-US 12 99071207 99071207 insertion of <=200bp - A intron_variant STAD-US 12 99076985 99076985 single base substitution G A intron_variant STAD-US 12 99076985 99076985 single base substitution G A missense_variant C693Y 2078G>A STAD-US 12 99076985 99076985 single base substitution G A missense_variant C704Y 2111G>A STAD-US 12 99077029 99077029 single base substitution G A intron_variant STAD-US 12 99077029 99077029 single base substitution G A missense_variant G708R 2122G>A STAD-US 12 99077029 99077029 single base substitution G A missense_variant G719R 2155G>A STAD-US 12 99080609 99080609 single base substitution T G intron_variant STAD-US 12 99080609 99080609 single base substitution T G missense_variant D743E 2229T>G STAD-US 12 99080609 99080609 single base substitution T G missense_variant D754E 2262T>G STAD-US 12 99093197 99093197 single base substitution G A intron_variant STAD-US 12 99093197 99093197 single base substitution G A synonymous_variant A761A 2283G>A STAD-US 12 99093197 99093197 single base substitution G A synonymous_variant A772A 2316G>A STAD-US 12 99093197 99093197 single base substitution G A upstream_gene_variant STAD-US 12 99102474 99102474 single base substitution C T exon_variant STAD-US 12 99102474 99102474 single base substitution C T intron_variant STAD-US 12 99102474 99102474 single base substitution C T missense_variant R891C 2671C>T STAD-US 12 99102474 99102474 single base substitution C T missense_variant R902C 2704C>T STAD-US 12 99102474 99102474 single base substitution C T missense_variant R934C 2800C>T STAD-US 12 99102474 99102474 single base substitution C T missense_variant R945C 2833C>T STAD-US 12 99121028 99121028 single base substitution C A intron_variant STAD-US 12 99121028 99121028 single base substitution C A synonymous_variant G1093G 3279C>A STAD-US 12 99121028 99121028 single base substitution C A synonymous_variant G1124G 3372C>A STAD-US 12 99121028 99121028 single base substitution C A synonymous_variant G1135G 3405C>A STAD-US 12 99121028 99121028 single base substitution C A synonymous_variant G1167G 3501C>A STAD-US 12 99121028 99121028 single base substitution C A synonymous_variant G1178G 3534C>A STAD-US 12 99126270 99126270 single base substitution G A 3_prime_UTR_variant STAD-US 12 99126270 99126270 single base substitution G A exon_variant STAD-US 12 99126270 99126270 single base substitution G A missense_variant V1140M 3418G>A STAD-US 12 99126270 99126270 single base substitution G A missense_variant V1171M 3511G>A STAD-US 12 99126270 99126270 single base substitution G A missense_variant V1182M 3544G>A STAD-US 12 99126270 99126270 single base substitution G A missense_variant V1214M 3640G>A STAD-US 12 99126270 99126270 single base substitution G A missense_variant V1225M 3673G>A STAD-US 12 99126270 99126270 single base substitution G A upstream_gene_variant THCA-US 12 99042229 99042229 single base substitution G A missense_variant S31N 92G>A THCA-US 12 99121092 99121092 deletion of <=200bp A - frameshift_variant K1115 THCA-US 12 99121092 99121092 deletion of <=200bp A - frameshift_variant K1146 THCA-US 12 99121092 99121092 deletion of <=200bp A - frameshift_variant K1157 THCA-US 12 99121092 99121092 deletion of <=200bp A - frameshift_variant K1189 THCA-US 12 99121092 99121092 deletion of <=200bp A - frameshift_variant K1200 THCA-US 12 99121092 99121092 deletion of <=200bp A - intron_variant THCA-US 12 99121092 99121092 deletion of <=200bp A - splice_region_variant UCEC-US 12 99042272 99042272 single base substitution T C synonymous_variant N45N 135T>C UCEC-US 12 99042441 99042441 single base substitution T C missense_variant M59T 176T>C UCEC-US 12 99043444 99043444 single base substitution G T downstream_gene_variant UCEC-US 12 99043444 99043444 single base substitution G T missense_variant D159Y 475G>T UCEC-US 12 99043444 99043444 single base substitution G T missense_variant D170Y 508G>T UCEC-US 12 99052985 99052985 single base substitution A G missense_variant K181E 541A>G UCEC-US 12 99052985 99052985 single base substitution A G missense_variant K192E 574A>G UCEC-US 12 99052986 99052986 single base substitution A C missense_variant K181T 542A>C UCEC-US 12 99052986 99052986 single base substitution A C missense_variant K192T 575A>C UCEC-US 12 99053025 99053025 single base substitution G A missense_variant R194Q 581G>A UCEC-US 12 99053025 99053025 single base substitution G A missense_variant R205Q 614G>A UCEC-US 12 99053093 99053093 single base substitution C T missense_variant R217C 649C>T UCEC-US 12 99053093 99053093 single base substitution C T missense_variant R228C 682C>T UCEC-US 12 99059430 99059430 single base substitution G T intron_variant UCEC-US 12 99059430 99059430 single base substitution G T missense_variant R341I 1022G>T UCEC-US 12 99059430 99059430 single base substitution G T missense_variant R352I 1055G>T UCEC-US 12 99059507 99059507 single base substitution G T intron_variant UCEC-US 12 99059507 99059507 single base substitution G T missense_variant D367Y 1099G>T UCEC-US 12 99059507 99059507 single base substitution G T missense_variant D378Y 1132G>T UCEC-US 12 99060022 99060022 single base substitution G A intron_variant UCEC-US 12 99060022 99060022 single base substitution G A missense_variant E406K 1216G>A UCEC-US 12 99060022 99060022 single base substitution G A missense_variant E417K 1249G>A UCEC-US 12 99060022 99060022 single base substitution G A upstream_gene_variant UCEC-US 12 99064761 99064761 single base substitution C A exon_variant UCEC-US 12 99064761 99064761 single base substitution C A intron_variant UCEC-US 12 99064761 99064761 single base substitution C A missense_variant A491D 1472C>A UCEC-US 12 99064761 99064761 single base substitution C A missense_variant A502D 1505C>A UCEC-US 12 99074073 99074073 single base substitution G T intron_variant UCEC-US 12 99074073 99074073 single base substitution G T stop_gained G636* 1906G>T UCEC-US 12 99074073 99074073 single base substitution G T stop_gained G647* 1939G>T UCEC-US 12 99074172 99074172 single base substitution A C intron_variant UCEC-US 12 99074172 99074172 single base substitution A C missense_variant K669Q 2005A>C UCEC-US 12 99074172 99074172 single base substitution A C missense_variant K680Q 2038A>C UCEC-US 12 99080653 99080653 single base substitution T C intron_variant UCEC-US 12 99080653 99080653 single base substitution T C splice_donor_variant UCEC-US 12 99093185 99093185 single base substitution G T intron_variant UCEC-US 12 99093185 99093185 single base substitution G T splice_acceptor_variant UCEC-US 12 99093185 99093185 single base substitution G T upstream_gene_variant UCEC-US 12 99102435 99102435 single base substitution G T exon_variant UCEC-US 12 99102435 99102435 single base substitution G T intron_variant UCEC-US 12 99102435 99102435 single base substitution G T stop_gained E878* 2632G>T UCEC-US 12 99102435 99102435 single base substitution G T stop_gained E889* 2665G>T UCEC-US 12 99102435 99102435 single base substitution G T stop_gained E921* 2761G>T UCEC-US 12 99102435 99102435 single base substitution G T stop_gained E932* 2794G>T UCEC-US 12 99117070 99117070 single base substitution T C exon_variant UCEC-US 12 99117070 99117070 single base substitution T C intron_variant UCEC-US 12 99117070 99117070 single base substitution T C missense_variant S1008P 3022T>C UCEC-US 12 99117070 99117070 single base substitution T C missense_variant S1019P 3055T>C UCEC-US 12 99117070 99117070 single base substitution T C missense_variant S1051P 3151T>C UCEC-US 12 99117070 99117070 single base substitution T C missense_variant S1062P 3184T>C UCEC-US 12 99126246 99126246 single base substitution G T exon_variant UCEC-US 12 99126246 99126246 single base substitution G T missense_variant W335L 1004G>T UCEC-US 12 99126246 99126246 single base substitution G T stop_gained G1132* 3394G>T UCEC-US 12 99126246 99126246 single base substitution G T stop_gained G1163* 3487G>T UCEC-US 12 99126246 99126246 single base substitution G T stop_gained G1174* 3520G>T UCEC-US 12 99126246 99126246 single base substitution G T stop_gained G1206* 3616G>T UCEC-US 12 99126246 99126246 single base substitution G T stop_gained G1217* 3649G>T UCEC-US 12 99126246 99126246 single base substitution G T upstream_gene_variant UCEC-US 12 99129342 99129342 single base substitution A C downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BR-8680-01 COSM4045601 c.2262T>G p.D754E Substitution - Missense 12:98686831-98686831 + HCC074T COSM5810193 c.1264T>C p.S422P Substitution - Missense 12:98666259-98666259 + TCGA-BR-8081-01 COSM4045602 c.2833C>T p.R945C Substitution - Missense 12:98708696-98708696 + PARBRK COSM5005481 c.2130T>C p.S710S Substitution - coding silent 12:98683226-98683226 + TCGA-BR-8297-01 COSM4045596 c.2155G>A p.G719R Substitution - Missense 12:98683251-98683251 + H2009 COSM21782 c.392A>T p.K131M Substitution - Missense 12:98649550-98649550 + TCGA-DY-A1DG-01 COSM1365084 c.1798delA p.N602fs*8 Deletion - Frameshift 12:98677429-98677429 + HCT8 COSM4633761 c.201C>A p.S67S Substitution - coding silent 12:98648688-98648688 + OSCC-GB_01370111 COSM5955705 c.2821G>A p.D941N Substitution - Missense 12:98708684-98708684 + HCC17 COSM1606794 c.2156G>A p.G719E Substitution - Missense 12:98683252-98683252 + BRC39 COSM5027658 c.284C>G p.S95C Substitution - Missense 12:98648771-98648771 + PT52 COSM5940231 c.1495G>A p.E499K Substitution - Missense 12:98670973-98670973 + pfg019T COSM1639277 c.139-10delT p.? Unknown 12:98648616-98648616 + TCGA-AN-A046-01 COSM3813298 c.2200G>T p.E734* Substitution - Nonsense 12:98686769-98686769 + 2493722 COSM5731582 c.58A>T p.I20F Substitution - Missense 12:98648417-98648417 + 587224 COSM1183156 c.2474A>C p.D825A Substitution - Missense 12:98703378-98703378 + RK185_C01 COSM3738620 c.946G>T p.E316* Substitution - Nonsense 12:98662797-98662797 + T1154 COSM1365084 c.1798delA p.N602fs*8 Deletion - Frameshift 12:98677429-98677429 + TCGA-BG-A0MS-01 COSM944890 c.682C>T p.R228C Substitution - Missense 12:98659315-98659315 + TCGA-BH-A1FC-01 COSM1477023 c.1975G>A p.E659K Substitution - Missense 12:98680331-98680331 + HCC17T COSM1606794 c.2156G>A p.G719E Substitution - Missense 12:98683252-98683252 + TCGA-BH-A0HP-01 COSM432038 c.247C>T p.L83F Substitution - Missense 12:98648734-98648734 + TCGA-AA-A00N-01 COSM274001 c.1539A>C p.K513N Substitution - Missense 12:98671017-98671017 + TCGA-AP-A054-01 COSM944901 c.2304+2T>C p.? Unknown 12:98686875-98686875 + HCC2998 COSM2047208 c.177G>T p.M59I Substitution - Missense 12:98648664-98648664 + 2521259 COSM5890669 c.3685T>C p.F1229L Substitution - Missense 12:98732504-98732504 + WA47 COSM236690 c.3679C>T p.P1227S Substitution - Missense 12:98732498-98732498 + TCGA-EE-A185-06 COSM3466778 c.622C>T p.Q208* Substitution - Nonsense 12:98659255-98659255 + TCGA-RP-A694-06 COSM4894202 c.730G>C p.D244H Substitution - Missense 12:98662475-98662475 + 585267 COSM318717 c.793A>G p.R265G Substitution - Missense 12:98662538-98662538 + TCGA-B5-A0JR-01 COSM944908 c.3184T>C p.S1062P Substitution - Missense 12:98723292-98723292 + HCC2998 COSM1677265 c.3224G>A p.G1075E Substitution - Missense 12:98723658-98723658 + T3202 COSM1365089 c.2615G>A p.R872H Substitution - Missense 12:98706504-98706504 + S00827 COSM309192 c.1396A>T p.R466* Substitution - Nonsense 12:98667546-98667546 + ESCC-158T COSM3936219 c.1748A>T p.Q583L Substitution - Missense 12:98671674-98671674 + TCGA-D5-5538-01 COSM1365087 c.2358delC p.F787fs*2 Deletion - Frameshift 12:98699461-98699461 + SC_9060 COSM5572044 c.3087A>G p.V1029V Substitution - coding silent 12:98723195-98723195 + TCGA-EK-A2R8-01 COSM4822807 c.287C>T p.S96F Substitution - Missense 12:98648774-98648774 + H1155 COSM1195362 c.2114G>A p.C705Y Substitution - Missense 12:98683210-98683210 + TCGA-CM-6171-01 COSM1365085 c.2058T>C p.S686S Substitution - coding silent 12:98683154-98683154 + TCGA-BS-A0UV-01 COSM944886 c.508G>T p.D170Y Substitution - Missense 12:98649666-98649666 + 587290 COSM1183159 c.418C>T p.L140F Substitution - Missense 12:98649576-98649576 + TCGA-G3-A25Y-01 COSM4917882 c.1494G>T p.K498N Substitution - Missense 12:98667644-98667644 + TCGA-B5-A0JY-01 COSM944891 c.1055G>T p.R352I Substitution - Missense 12:98665652-98665652 + PT45 COSM5927663 c.2849A>T p.N950I Substitution - Missense 12:98712326-98712326 + S02279 COSM5683571 c.1410G>T p.P470P Substitution - coding silent 12:98667560-98667560 + MI2 COSM1166361 c.2651G>A p.W884* Substitution - Nonsense 12:98706540-98706540 + ESCC_93 COSM5637198 c.1733A>T p.Q578L Substitution - Missense 12:98671659-98671659 + TCGA-09-1665-01 COSM77280 c.1435G>A p.D479N Substitution - Missense 12:98667585-98667585 + TCGA-CJ-5672-01 COSM469122 c.3191A>G p.D1064G Substitution - Missense 12:98723299-98723299 + Pat_41_B COSM5842094 c.1892C>T p.A631V Substitution - Missense 12:98677523-98677523 + pfg008T COSM1639276 c.59T>C p.I20T Substitution - Missense 12:98648418-98648418 + TCGA-D1-A160-01 COSM944884 c.135T>C p.N45N Substitution - coding silent 12:98648494-98648494 + VACO10 COSM2047232 c.1797_1798insA p.N602fs*24 Insertion - Frameshift 12:98677428-98677429 + PCSI_0083_Pa_X COSM3376420 c.2207G>A p.R736Q Substitution - Missense 12:98686776-98686776 + sysucc-274T COSM5475699 c.2593G>A p.E865K Substitution - Missense 12:98703497-98703497 + TCGA-A5-A0GV-01 COSM944894 c.1387C>T p.Q463* Substitution - Nonsense 12:98667537-98667537 + TCGA-AX-A05Z-01 COSM944892 c.1132G>T p.D378Y Substitution - Missense 12:98665729-98665729 + PT16_1 COSM5898432 c.2842-6C>T p.? Unknown 12:98712313-98712313 + CLL063 COSM1289871 c.1840C>G p.H614D Substitution - Missense 12:98677471-98677471 + 587376 COSM1183158 c.2329G>T p.E777* Substitution - Nonsense 12:98699432-98699432 + S00827 COSM309192 c.1396A>T p.R466* Substitution - Nonsense 12:98667546-98667546 + TCGA-FW-A3R5-06 COSM3872755 c.1265C>T p.S422F Substitution - Missense 12:98666260-98666260 + TCGA-AA-3833-01 COSM271106 c.2510C>T p.T837M Substitution - Missense 12:98703414-98703414 + TCGA-39-5022-01 COSM696222 c.2135A>G p.H712R Substitution - Missense 12:98683231-98683231 + 09-044 COSM305631 c.1431G>T p.Q477H Substitution - Missense 12:98667581-98667581 + YUMOBER COSM5376260 c.854C>T p.S285F Substitution - Missense 12:98662705-98662705 + 116 COSM1741451 c.3331-1G>C p.? Unknown 12:98725414-98725414 + 60 COSM5016412 c.1662_1663insA p.L555fs*8 Insertion - Frameshift 12:98671588-98671589 + 53 COSM5734842 c.3346C>G p.L1116V Substitution - Missense 12:98725430-98725430 + TCGA-BR-6566-01 COSM4045593 c.1410G>A p.P470P Substitution - coding silent 12:98667560-98667560 + HCC6T COSM1606797 c.3135A>T p.E1045D Substitution - Missense 12:98723243-98723243 + TCGA-B0-5098-01 COSM1493057 c.2658T>C p.H886H Substitution - coding silent 12:98706547-98706547 + PS-286-7D COSM4423844 c.3017T>A p.V1006E Substitution - Missense 12:98715485-98715485 + 234 COSM3731432 c.633delT p.S213fs*18 Deletion - Frameshift 12:98659266-98659266 + TCGA-66-2766-01 COSM696225 c.945A>T p.K315N Substitution - Missense 12:98662796-98662796 + TCGA-AA-A010-01 COSM278896 c.1301G>A p.R434H Substitution - Missense 12:98666296-98666296 + P56 COSM328951 c.153A>T p.Q51H Substitution - Missense 12:98648640-98648640 + TCGA-AA-A010-01 COSM278895 c.796G>T p.D266Y Substitution - Missense 12:98662541-98662541 + ccRCC-41 COSM1660566 c.1799A>G p.K600R Substitution - Missense 12:98677430-98677430 + GCT51 COSM5749841 c.2785G>A p.V929M Substitution - Missense 12:98708648-98708648 + Pat_02_B COSM2047229 c.1474G>A p.A492T Substitution - Missense 12:98667624-98667624 + TCGA-D3-A51T-06 COSM3466786 c.3615C>T p.V1205V Substitution - coding silent 12:98732434-98732434 + CSCC-31-T COSM4499100 c.534C>T p.F178F Substitution - coding silent 12:98659167-98659167 + TCGA-EI-6882-01 COSM5078964 c.1268_1269delTT p.L424fs*3 Deletion - Frameshift 12:98666263-98666264 + TCGA-JW-A5VL-01 COSM4847904 c.3470C>G p.S1157* Substitution - Nonsense 12:98727186-98727186 + BD236T COSM1639277 c.139-10delT p.? Unknown 12:98648616-98648616 + sysucc-311T COSM5478422 c.2295A>G p.G765G Substitution - coding silent 12:98686864-98686864 + QC2-32-T2 COSM5654254 c.1536A>G p.A512A Substitution - coding silent 12:98671014-98671014 + HCC139T COSM1606796 c.3127C>T p.H1043Y Substitution - Missense 12:98723235-98723235 + TCGA-AA-3715-01 COSM268673 c.1655G>A p.G552E Substitution - Missense 12:98671581-98671581 + TCGA-EI-6881-01 COSM1365084 c.1798delA p.N602fs*8 Deletion - Frameshift 12:98677429-98677429 + TCGA-CG-5723-01 COSM1365091 c.3673G>A p.V1225M Substitution - Missense 12:98732492-98732492 + TCGA-AC-A23H-01 COSM3813296 c.1966C>T p.H656Y Substitution - Missense 12:98680322-98680322 + TCGA-FV-A3I1-01 COSM4929243 c.1357C>A p.L453I Substitution - Missense 12:98666352-98666352 + TCGA-BS-A0UF-01 COSM944903 c.2794G>T p.E932* Substitution - Nonsense 12:98708657-98708657 + TCGA-BR-4257-01 COSM4045594 c.2111G>A p.C704Y Substitution - Missense 12:98683207-98683207 + TCGA-D1-A103-01 COSM944893 c.1249G>A p.E417K Substitution - Missense 12:98666244-98666244 + C058 COSM5524591 c.520T>A p.L174I Substitution - Missense 12:98649678-98649678 + SC_9071 COSM5558470 c.3730T>A p.L1244I Substitution - Missense 12:98732549-98732549 + HCT8 COSM4633763 c.3360T>C p.L1120L Substitution - coding silent 12:98725444-98725444 + TCGA-F5-6814-01 COSM3417305 c.1010G>A p.R337H Substitution - Missense 12:98665607-98665607 + SNU-C2B COSM2047214 c.239A>T p.Y80F Substitution - Missense 12:98648726-98648726 + 2521252 COSM5889192 c.2597T>C p.L866S Substitution - Missense 12:98706486-98706486 + TCGA-AZ-4315-01 COSM1365086 c.2316G>A p.A772A Substitution - coding silent 12:98699419-98699419 + TCGA-B5-A11E-01 COSM944889 c.614G>A p.R205Q Substitution - Missense 12:98659247-98659247 + TCGA-G2-A2ES-01 COSM1299991 c.3500C>T p.P1167L Substitution - Missense 12:98727216-98727216 + TCGA-G4-6320-01 COSM3688509 c.676C>T p.R226C Substitution - Missense 12:98659309-98659309 + DN13027 COSM5780091 c.1090C>G p.L364V Substitution - Missense 12:98665687-98665687 + PD13607a COSM5780091 c.1090C>G p.L364V Substitution - Missense 12:98665687-98665687 + XHDG04 COSM4768265 c.1360C>G p.Q454E Substitution - Missense 12:98666355-98666355 + TCGA-ER-A19A-06 COSM2047226 c.1357C>T p.L453F Substitution - Missense 12:98666352-98666352 + HCC6 COSM1606797 c.3135A>T p.E1045D Substitution - Missense 12:98723243-98723243 + CRC-9 COSM304642 c.1712C>T p.P571L Substitution - Missense 12:98671638-98671638 + I2L-P6-Tumor-Organoid COSM5361816 c.1397G>T p.R466I Substitution - Missense 12:98667547-98667547 + HCT8 COSM4633762 c.2963T>C p.L988S Substitution - Missense 12:98715431-98715431 + TCGA-FS-A1ZK-06 COSM3466779 c.1232T>C p.V411A Substitution - Missense 12:98666227-98666227 + TCGA-13-0923-01 COSM69683 c.437A>T p.E146V Substitution - Missense 12:98649595-98649595 + 3 COSM5044396 c.1259A>G p.N420S Substitution - Missense 12:98666254-98666254 + TCGA-CA-6718-01 COSM1365090 c.3040G>A p.D1014N Substitution - Missense 12:98715508-98715508 + LS411 COSM2047216 c.676C>A p.R226S Substitution - Missense 12:98659309-98659309 + ESCC-219T COSM3936218 c.1646C>G p.S549C Substitution - Missense 12:98671572-98671572 + ccRCC-75 COSM1660565 c.1309T>A p.L437I Substitution - Missense 12:98666304-98666304 + TCGA-EE-A182-06 COSM3466785 c.2886T>C p.A962A Substitution - coding silent 12:98712363-98712363 + TCGA-66-2788-01 COSM696224 c.1455C>G p.N485K Substitution - Missense 12:98667605-98667605 + TCGA-AG-A02N-01 COSM290598 c.1608+1_1608+2insTA p.? Unknown 12:98671087-98671088 + SJHYPO044 COSM4775755 c.1195-5C>T p.? Unknown 12:98666185-98666185 + TCGA-BS-A0UF-01 COSM944899 c.2038A>C p.K680Q Substitution - Missense 12:98680394-98680394 + ESCC_BICR_060T COSM3417305 c.1010G>A p.R337H Substitution - Missense 12:98665607-98665607 + ESCC_BICR_058T COSM5430671 c.3050_3051delCT p.L1018fs*5 Deletion - Frameshift 12:98715518-98715519 + CHC121T COSM3667235 c.2800G>A p.E934K Substitution - Missense 12:98708663-98708663 + T55 COSM3376420 c.2207G>A p.R736Q Substitution - Missense 12:98686776-98686776 + TCGA-G3-A25U-01 COSM4911163 c.3128A>G p.H1043R Substitution - Missense 12:98723236-98723236 + BD142T COSM4045593 c.1410G>A p.P470P Substitution - coding silent 12:98667560-98667560 + YUDUTY COSM1706063 c.1522G>A p.D508N Substitution - Missense 12:98671000-98671000 + HCC139 COSM1606796 c.3127C>T p.H1043Y Substitution - Missense 12:98723235-98723235 + CHC1602T COSM4789083 c.3741A>C p.L1247F Substitution - Missense 12:98732560-98732560 + TCGA-BS-A0UF-01 COSM944887 c.574A>G p.K192E Substitution - Missense 12:98659207-98659207 + CHC121T COSM3667235 c.2800G>A p.E934K Substitution - Missense 12:98708663-98708663 + TARGET-30-PASXGP COSM1283445 c.1879G>C p.G627R Substitution - Missense 12:98677510-98677510 + TCGA-CK-4952-01 COSM1365081 c.987A>G p.A329A Substitution - coding silent 12:98665584-98665584 + TBR06 COSM4167634 c.425A>G p.K142R Substitution - Missense 12:98649583-98649583 + PT52 COSM5940232 c.2506C>T p.H836Y Substitution - Missense 12:98703410-98703410 + TCGA-BH-A0B6-01 COSM3813293 c.515C>G p.S172C Substitution - Missense 12:98649673-98649673 + TCGA-DJ-A2PT-01 COSM3368997 c.92G>A p.S31N Substitution - Missense 12:98648451-98648451 + pfg008T COSM1639276 c.59T>C p.I20T Substitution - Missense 12:98648418-98648418 + TCGA-B5-A0JY-01 COSM944902 c.2305-1G>T p.? Unknown 12:98699407-98699407 + SJHGG014_D COSM4970072 c.3432G>A p.T1144T Substitution - coding silent 12:98725516-98725516 + TCGA-85-6561-01 COSM696223 c.2115C>T p.C705C Substitution - coding silent 12:98683211-98683211 + KYSE-450 COSM4439278 c.1903G>A p.A635T Substitution - Missense 12:98677534-98677534 + TCGA-EI-6507-01 COSM1365084 c.1798delA p.N602fs*8 Deletion - Frameshift 12:98677429-98677429 + CSCC-16-T COSM4542293 c.3159G>A p.L1053L Substitution - coding silent 12:98723267-98723267 + CSCC-49-T COSM4484460 c.2812C>T p.L938F Substitution - Missense 12:98708675-98708675 + CHC1602T COSM4789083 c.3741A>C p.L1247F Substitution - Missense 12:98732560-98732560 + TCGA-BR-4184-01 COSM4045592 c.627T>C p.D209D Substitution - coding silent 12:98659260-98659260 + TCGA-AA-3516-01 COSM291512 c.1798_1799delAA p.N602fs*23 Deletion - Frameshift 12:98677429-98677430 + PT50 COSM5937528 c.218A>T p.N73I Substitution - Missense 12:98648705-98648705 + 116 COSM1741450 c.3001C>A p.Q1001K Substitution - Missense 12:98715469-98715469 + TCGA-AP-A056-01 COSM944895 c.1505C>A p.A502D Substitution - Missense 12:98670983-98670983 + TCGA-AN-A046-01 COSM3813297 c.2057C>A p.S686Y Substitution - Missense 12:98683153-98683153 + TCGA-E9-A1N3-01 COSM1477024 c.1997C>G p.S666C Substitution - Missense 12:98680353-98680353 + RK126_C01 COSM1628959 c.2954T>G p.I985S Substitution - Missense 12:98712431-98712431 + TCGA-D5-6540-01 COSM1365083 c.1731T>G p.Y577* Substitution - Nonsense 12:98671657-98671657 + RK131_C01 COSM3700376 c.139-1G>A p.? Unknown 12:98648625-98648625 + RK159_C01 COSM1628955 c.1406A>G p.Q469R Substitution - Missense 12:98667556-98667556 + TCGA-BK-A0C9-01 COSM944896 c.1593T>C p.H531H Substitution - coding silent 12:98671071-98671071 + CHEWS030 COSM4045593 c.1410G>A p.P470P Substitution - coding silent 12:98667560-98667560 + TCGA-P4-A5EB-01 COSM3987280 c.2305-2A>C p.? Unknown 12:98699406-98699406 + Pat_63_B COSM5842097 c.3434G>A p.G1145E Substitution - Missense 12:98725518-98725518 + HCC058T COSM5804183 c.2467-2A>T p.? Unknown 12:98703369-98703369 + PS-286-5D COSM4423844 c.3017T>A p.V1006E Substitution - Missense 12:98715485-98715485 + 587222 COSM1183157 c.2773G>T p.E925* Substitution - Nonsense 12:98708636-98708636 + TCGA-EJ-5496-01 COSM1128437 c.511C>T p.H171Y Substitution - Missense 12:98649669-98649669 + NB1794 COSM5702928 c.2710C>A p.Q904K Substitution - Missense 12:98706599-98706599 + TCGA-EE-A3J3-06 COSM3872756 c.1917A>T p.L639F Substitution - Missense 12:98677548-98677548 + TCGA-22-4613-01 COSM696226 c.236G>T p.G79V Substitution - Missense 12:98648723-98648723 + LUAD-5V8LT COSM401374 c.1062G>T p.R354S Substitution - Missense 12:98665659-98665659 + ME002T COSM222256 c.3601T>C p.W1201R Substitution - Missense 12:98732420-98732420 + ESCC_BICR_022T COSM5443028 c.3677C>T p.S1226F Substitution - Missense 12:98732496-98732496 + 53M COSM5594193 c.1682C>T p.P561L Substitution - Missense 12:98671608-98671608 + TCGA-BT-A3PK-01 COSM3793067 c.2121C>T p.F707F Substitution - coding silent 12:98683217-98683217 + TCGA-BR-4280-01 COSM4045603 c.3534C>A p.G1178G Substitution - coding silent 12:98727250-98727250 + TCGA-A2-A0CR-01 COSM3813294 c.1086G>T p.E362D Substitution - Missense 12:98665683-98665683 + TCGA-BS-A0UJ-01 COSM944885 c.176T>C p.M59T Substitution - Missense 12:98648663-98648663 + TCGA-AA-3548-01 COSM292155 c.1377G>A p.K459K Substitution - coding silent 12:98667527-98667527 + PCSI_0083_Pa_P COSM3376420 c.2207G>A p.R736Q Substitution - Missense 12:98686776-98686776 + CHC1425T COSM3667234 c.2127C>T p.N709N Substitution - coding silent 12:98683223-98683223 + TCGA-AP-A051-01 COSM944898 c.1939G>T p.G647* Substitution - Nonsense 12:98680295-98680295 + I2L-P7-Tumor-Organoid COSM5361330 c.2841+8delT p.? Unknown 12:98708712-98708712 + RK220_C01 COSM3738619 c.125A>T p.K42I Substitution - Missense 12:98648484-98648484 + HCC2998 COSM1677265 c.3224G>A p.G1075E Substitution - Missense 12:98723658-98723658 + TCGA-BR-8589-01 COSM4045591 c.304T>G p.S102A Substitution - Missense 12:98648791-98648791 + SW48 COSM2047288 c.3441C>T p.D1147D Substitution - coding silent 12:98725525-98725525 + TCGA-B5-A11E-01 COSM944909 c.3649G>T p.G1217* Substitution - Nonsense 12:98732468-98732468 + YUGOE COSM1706064 c.2021C>T p.T674I Substitution - Missense 12:98680377-98680377 + TCGA-AN-A046-01 COSM3813295 c.1785G>A p.L595L Substitution - coding silent 12:98671711-98671711 + LOVO COSM2047242 c.2120T>C p.F707S Substitution - Missense 12:98683216-98683216 + T2999 COSM2047220 c.1071G>A p.S357S Substitution - coding silent 12:98665668-98665668 + TCGA-CM-5341-01 COSM1365088 c.2365A>T p.N789Y Substitution - Missense 12:98699468-98699468 + TCGA-AA-3713-01 COSM1365089 c.2615G>A p.R872H Substitution - Missense 12:98706504-98706504 + TCGA-D1-A17Q-01 COSM944888 c.575A>C p.K192T Substitution - Missense 12:98659208-98659208 + 0061_CRUK_PC_0061_T1_DNA COSM5423516 c.824-10T>C p.? Unknown 12:98662665-98662665 + PD6763a COSM1638096 c.1754A>G p.K585R Substitution - Missense 12:98671680-98671680 + ASHPC_0022_Pa_P COSM4962761 c.2392G>A p.E798K Substitution - Missense 12:98699495-98699495 + SCMC_RM2_ COSM4988995 c.379G>A p.V127I Substitution - Missense 12:98649537-98649537 + D-12 COSM4766820 c.2250A>T p.R750S Substitution - Missense 12:98686819-98686819 + 61 COSM5739766 c.1808T>C p.I603T Substitution - Missense 12:98677439-98677439 + I2L-P6-Tumor-Biopsy COSM5361816 c.1397G>T p.R466I Substitution - Missense 12:98667547-98667547 + LS180 COSM2047284 c.3381C>T p.N1127N Substitution - coding silent 12:98725465-98725465 + 23_tFL COSM4170491 c.2316delG p.T773fs*11 Deletion - Frameshift 12:98699419-98699419 + BD124T COSM5493009 c.1176C>T p.D392D Substitution - coding silent 12:98665773-98665773 + PT55 COSM5898432 c.2842-6C>T p.? Unknown 12:98712313-98712313 + PT51 COSM5938308 c.3361C>T p.H1121Y Substitution - Missense 12:98725445-98725445 + T3152 COSM4662309 c.2689delT p.L898fs*1 Deletion - Frameshift 12:98706578-98706578 + PCSI_0018_Pa_X COSM3376419 c.1944G>C p.E648D Substitution - Missense 12:98680300-98680300 + T263 COSM4662307 c.13G>C p.A5P Substitution - Missense 12:98648372-98648372 + CSCC-38-T COSM4483110 c.2674C>T p.P892S Substitution - Missense 12:98706563-98706563 + NCI-H2009 COSM21782 c.392A>T p.K131M Substitution - Missense 12:98649550-98649550 + T578 COSM4662308 c.600G>T p.Q200H Substitution - Missense 12:98659233-98659233 + TCGA-AN-A046-01 COSM3813291 c.17G>A p.R6Q Substitution - Missense 12:98648376-98648376 + TCGA-D8-A1XQ-01 COSM5225400 c.3481_3483delCTT p.L1162delL Deletion - In frame 12:98727197-98727199 + RK046_C01 COSM1628956 c.2248A>G p.R750G Substitution - Missense 12:98686817-98686817 + TCGA-AO-A03M-01 COSM3813292 c.482C>G p.S161C Substitution - Missense 12:98649640-98649640 + TCGA-MY-A5BD-01 COSM4855590 c.282C>T p.V94V Substitution - coding silent 12:98648769-98648769 + TCGA-BR-8680-01 COSM1365086 c.2316G>A p.A772A Substitution - coding silent 12:98699419-98699419 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.552567 12q23 602233

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.K1200Sfs*34 c.3599delA 12 99121092 THCA A G Missense p.E447G c.1340A>G 12 99060113 HNSC A G Missense p.H712R c.2135A>G 12 99077009 LUSC A G Missense p.I532V c.1594A>G 12 99064850 HNSC A G Missense p.I672V c.2014A>G 12 99074148 LUAD A G Missense p.K142R c.425A>G 12 99043361 ALL A G Missense p.K290R c.869A>G 12 99056498 HNSC A G Missense p.R265G c.793A>G 12 99056316 SCLC A G Missense p.R750G c.2248A>G 12 99080595 HC A T Missense p.E146V c.437A>T 12 99043373 OV A T Missense p.E40V c.119A>T 12 99042256 HNSC A T Missense p.E410V c.1229A>T 12 99060002 HNSC A T Missense p.K315N c.945A>T 12 99056574 LUSC A T Missense p.L639F c.1917A>T 12 99071326 CM A T Missense p.S829C c.2485A>T 12 99097167 LUAD A T Nonsense p.R466* c.1396A>T 12 99061324 SCLC C A Synonymous p.G1178G c.3534C>A 12 99121028 STAD C A Synonymous p.R205R c.613C>A 12 99053024 LUAD C G Missense p.H614D c.1840C>G 12 99071249 CLL C G Missense p.N485K c.1455C>G 12 99061383 LUSC C G Missense p.S666C c.1997C>G 12 99074131 BRCA C G Missense p.S95C c.284C>G 12 99042549 BRCA C T Missense p.H171Y c.511C>T 12 99043447 CM C T Missense p.H171Y c.511C>T 12 99043447 PRAD C T Missense p.L453F c.1357C>T 12 99060130 CM C T Missense p.L83F c.247C>T 12 99042512 BRCA C T Missense p.P1119S c.3355C>T 12 99119217 BRCA C T Missense p.P1167L c.3500C>T 12 99120994 BLCA C T Missense p.R228C c.682C>T 12 99053093 UCEC C T Missense p.S1102F c.3305C>T 12 99117517 BRCA C T Nonsense p.Q208* c.622C>T 12 99053033 CM C T Nonsense p.R557* c.1669C>T 12 99065373 HNSC C T Synonymous p.C705C c.2115C>T 12 99076989 LUSC C T Synonymous p.C968C c.2904C>T 12 99106159 LUAD C T Synonymous p.F707F c.2121C>T 12 99076995 BLCA G A IntronicSNV . c.1495-101G>A 12 99064650 CM G A Missense p.C704Y c.2111G>A 12 99076985 STAD G A Missense p.D479N c.1435G>A 12 99061363 OV G A Missense p.D809N c.2425G>A 12 99093306 HNSC G A Missense p.E659K c.1975G>A 12 99074109 BRCA G A Missense p.S31N c.92G>A 12 99042229 THCA G A Synonymous p.K459K c.1377G>A 12 99061305 COREAD G A Synonymous p.Q257Q c.771G>A 12 99056294 LUAD G C Missense p.G627R c.1879G>C 12 99071288 NB G - Frameshift p.E478Kfs*26 c.1432delG 12 99061359 LUAD G T Missense p.D266Y c.796G>T 12 99056319 HNSC G T Missense p.G79V c.236G>T 12 99042501 LUSC G T Missense p.L854F c.2562G>T 12 99097244 LUAD G T SpliceAcceptorSNV . c.2959-1G>T 12 99109204 LUAD G T SpliceAcceptorSNV . c.711-1G>T 12 99056233 LUAD T C Missense p.I20T c.59T>C 12 99042196 STAD T C Missense p.S1062P c.3184T>C 12 99117070 UCEC T C Missense p.V411A c.1232T>C 12 99060005 CM T C Missense p.W1201R c.3601T>C 12 99126198 CM T C SpliceDonorSNV . c.2304+2T>C 12 99080653 UCEC T C Synonymous p.A962A c.2886T>C 12 99106141 CM T C Synonymous p.N45N c.135T>C 12 99042272 UCEC T G Missense p.I985S c.2954T>G 12 99106209 HC T - IntronicDeletion . c.139-3delT 12 99042394 STAD