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 3 46007825 46007825 + Missense_Mutation SNP T T C TCGA-OR-A5K9-01A-11D-A29I-10 TCGA-OR-A5K9-11A-11D-A29L-10 g.chr3:46007825T>C c.3001A>G c.(3001-3003)Aac>Gac p.N1001D ACC 3 46008087 46008087 + Silent SNP G G A TCGA-OR-A5JX-01A-11D-A29I-10 TCGA-OR-A5JX-10B-01D-A29L-10 g.chr3:46008087G>A c.2739C>T c.(2737-2739)tgC>tgT p.C913C BLCA 3 46000914 46000914 + Silent SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 g.chr3:46000914G>A c.3558C>T c.(3556-3558)ttC>ttT p.F1186F BLCA 3 46001008 46001008 + Nonsense_Mutation SNP G G C TCGA-HQ-A5NE-01A-12D-A289-08 TCGA-HQ-A5NE-10A-01D-A289-08 g.chr3:46001008G>C c.3464C>G c.(3463-3465)tCa>tGa p.S1155* BLCA 3 46006596 46006596 + Missense_Mutation SNP T T A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 g.chr3:46006596T>A c.3079A>T c.(3079-3081)Agc>Tgc p.S1027C BLCA 3 46007805 46007805 + Silent SNP C C G TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr3:46007805C>G c.3021G>C c.(3019-3021)ctG>ctC p.L1007L BLCA 3 46008021 46008021 + Silent SNP G G A TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr3:46008021G>A c.2805C>T c.(2803-2805)gaC>gaT p.D935D BLCA 3 46008455 46008455 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr3:46008455G>A c.2371C>T c.(2371-2373)Cag>Tag p.Q791* BLCA 3 46008897 46008897 + Silent SNP C C T TCGA-FD-A5BV-01A-11D-A26M-08 TCGA-FD-A5BV-10A-01D-A26K-08 g.chr3:46008897C>T c.1929G>A c.(1927-1929)caG>caA p.Q643Q BLCA 3 46009035 46009035 + Missense_Mutation SNP C C G TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr3:46009035C>G c.1791G>C c.(1789-1791)gaG>gaC p.E597D BLCA 3 46010025 46010025 + Silent SNP G G A TCGA-YF-AA3L-01A-11D-A38G-08 TCGA-YF-AA3L-10A-01D-A38J-08 g.chr3:46010025G>A c.801C>T c.(799-801)gtC>gtT p.V267V BLCA 3 46014656 46014657 + Frame_Shift_Del DEL AG AG - TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 g.chr3:46014656_46014657delAG c.462_463delCT c.(460-465)ctctatfs p.Y155fs BLCA 3 46023076 46023076 + Missense_Mutation SNP C C G TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr3:46023076C>G c.148G>C c.(148-150)Gag>Cag p.E50Q BLCA 3 46023127 46023127 + Missense_Mutation SNP C C T TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr3:46023127C>T c.97G>A c.(97-99)Gaa>Aaa p.E33K BLCA 3 46026348 46026348 + Splice_Site SNP C C G TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr3:46026348C>G c.55G>C c.(55-57)Gat>Cat p.D19H BRCA 3 45972655 45972655 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr3:45972655T>C c.4159A>G c.(4159-4161)Acc>Gcc p.T1387A BRCA 3 46007805 46007805 + Silent SNP C C G TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 g.chr3:46007805C>G c.3021G>C c.(3019-3021)ctG>ctC p.L1007L BRCA 3 46007876 46007876 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 g.chr3:46007876G>C c.2950C>G c.(2950-2952)Cag>Gag p.Q984E BRCA 3 46008073 46008073 + Missense_Mutation SNP T T G TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr3:46008073T>G c.2753A>C c.(2752-2754)gAa>gCa p.E918A BRCA 3 46008081 46008081 + Silent SNP C C T TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 g.chr3:46008081C>T c.2745G>A c.(2743-2745)ctG>ctA p.L915L BRCA 3 46008278 46008278 + Missense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 g.chr3:46008278C>G c.2548G>C c.(2548-2550)Gag>Cag p.E850Q BRCA 3 46008714 46008714 + Silent SNP G G A TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr3:46008714G>A c.2112C>T c.(2110-2112)agC>agT p.S704S BRCA 3 46010138 46010138 + Frame_Shift_Del DEL C C - TCGA-AR-A0U2-01A-11D-A10G-09 TCGA-AR-A0U2-10A-01D-A10G-09 g.chr3:46010138delC c.688delG c.(688-690)gagfs p.E230fs BRCA 3 46010171 46010171 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr3:46010171C>G c.655G>C c.(655-657)Gac>Cac p.D219H BRCA 3 46021263 46021263 + Missense_Mutation SNP G G T TCGA-A8-A07C-01A-11D-A045-09 TCGA-A8-A07C-10A-01W-A055-09 g.chr3:46021263G>T c.222C>A c.(220-222)ttC>ttA p.F74L CESC 3 45999964 45999964 + Missense_Mutation SNP G G T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 g.chr3:45999964G>T c.3735C>A c.(3733-3735)agC>agA p.S1245R CESC 3 46003742 46003742 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 g.chr3:46003742C>T c.3412G>A c.(3412-3414)Gag>Aag p.E1138K CESC 3 46008029 46008029 + Missense_Mutation SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 g.chr3:46008029G>T c.2797C>A c.(2797-2799)Ctc>Atc p.L933I CESC 3 46008585 46008585 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr3:46008585G>C c.2241C>G c.(2239-2241)ctC>ctG p.L747L CESC 3 46008803 46008803 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr3:46008803C>T c.2023G>A c.(2023-2025)Gac>Aac p.D675N CESC 3 46008968 46008968 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 g.chr3:46008968C>T c.1858G>A c.(1858-1860)Gag>Aag p.E620K CESC 3 46008989 46008989 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr3:46008989C>T c.1837G>A c.(1837-1839)Gag>Aag p.E613K CESC 3 46009302 46009302 + Silent SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 g.chr3:46009302G>T c.1524C>A c.(1522-1524)gtC>gtA p.V508V COAD 3 45963312 45963312 + Missense_Mutation SNP A A C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr3:45963312A>C c.4382T>G c.(4381-4383)tTt>tGt p.F1461C COAD 3 45965170 45965170 + Missense_Mutation SNP T T C TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr3:45965170T>C c.4339A>G c.(4339-4341)Atc>Gtc p.I1447V COAD 3 45972609 45972609 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr3:45972609C>T c.4205G>A c.(4204-4206)aGt>aAt p.S1402N COAD 3 45972733 45972733 + Missense_Mutation SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr3:45972733C>T c.4081G>A c.(4081-4083)Ggg>Agg p.G1361R COAD 3 45972743 45972743 + Silent SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:45972743G>A c.4071C>T c.(4069-4071)atC>atT p.I1357I COAD 3 45977986 45977986 + Missense_Mutation SNP C C T TCGA-CA-6719-01A-11D-1835-10 TCGA-CA-6719-10A-01D-1835-10 g.chr3:45977986C>T c.3994G>A c.(3994-3996)Gtg>Atg p.V1332M COAD 3 45996856 45996856 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:45996856C>T c.3829G>A c.(3829-3831)Gac>Aac p.D1277N COAD 3 46008499 46008499 + Missense_Mutation SNP G G A TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr3:46008499G>A c.2327C>T c.(2326-2328)gCg>gTg p.A776V COAD 3 46008574 46008575 + Frame_Shift_Ins INS - - TCTC TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr3:46008574_46008575insTCTC c.2251_2252insGAGA c.(2251-2253)aaafs p.K751fs COAD 3 46008818 46008818 + Missense_Mutation SNP T T C TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr3:46008818T>C c.2008A>G c.(2008-2010)Atc>Gtc p.I670V COAD 3 46009077 46009077 + Missense_Mutation SNP C C A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr3:46009077C>A c.1749G>T c.(1747-1749)gaG>gaT p.E583D COAD 3 46009411 46009411 + Missense_Mutation SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr3:46009411C>T c.1415G>A c.(1414-1416)cGg>cAg p.R472Q COAD 3 46009444 46009444 + Missense_Mutation SNP C C A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr3:46009444C>A c.1382G>T c.(1381-1383)gGg>gTg p.G461V COAD 3 46009723 46009723 + Missense_Mutation SNP A A G TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr3:46009723A>G c.1103T>C c.(1102-1104)tTc>tCc p.F368S COAD 3 46009981 46009981 + Missense_Mutation SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr3:46009981C>T c.845G>A c.(844-846)cGc>cAc p.R282H COAD 3 46010071 46010071 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:46010071C>T c.755G>A c.(754-756)cGc>cAc p.R252H COAD 3 46010078 46010078 + Missense_Mutation SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr3:46010078G>A c.748C>T c.(748-750)Cgg>Tgg p.R250W COAD 3 46011195 46011195 + Missense_Mutation SNP A A G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr3:46011195A>G c.602T>C c.(601-603)aTg>aCg p.M201T COAD 3 46014625 46014625 + Missense_Mutation SNP G G A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr3:46014625G>A c.494C>T c.(493-495)gCg>gTg p.A165V COAD 3 46016733 46016733 + Silent SNP G G A TCGA-CM-6168-01A-11D-1650-10 TCGA-CM-6168-10A-01D-1650-10 g.chr3:46016733G>A c.393C>T c.(391-393)acC>acT p.T131T COAD 3 46023078 46023078 + Missense_Mutation SNP A A G TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr3:46023078A>G c.146T>C c.(145-147)cTt>cCt p.L49P COADREAD 3 45963312 45963312 + Missense_Mutation SNP A A C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr3:45963312A>C c.4382T>G c.(4381-4383)tTt>tGt p.F1461C COADREAD 3 45965170 45965170 + Missense_Mutation SNP T T C TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr3:45965170T>C c.4339A>G c.(4339-4341)Atc>Gtc p.I1447V COADREAD 3 45972609 45972609 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr3:45972609C>T c.4205G>A c.(4204-4206)aGt>aAt p.S1402N COADREAD 3 45972733 45972733 + Missense_Mutation SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr3:45972733C>T c.4081G>A c.(4081-4083)Ggg>Agg p.G1361R COADREAD 3 45972743 45972743 + Silent SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:45972743G>A c.4071C>T c.(4069-4071)atC>atT p.I1357I COADREAD 3 45977986 45977986 + Missense_Mutation SNP C C T TCGA-CA-6719-01A-11D-1835-10 TCGA-CA-6719-10A-01D-1835-10 g.chr3:45977986C>T c.3994G>A c.(3994-3996)Gtg>Atg p.V1332M COADREAD 3 45996856 45996856 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:45996856C>T c.3829G>A c.(3829-3831)Gac>Aac p.D1277N COADREAD 3 46008499 46008499 + Missense_Mutation SNP G G A TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr3:46008499G>A c.2327C>T c.(2326-2328)gCg>gTg p.A776V COADREAD 3 46008574 46008575 + Frame_Shift_Ins INS - - TCTC TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr3:46008574_46008575insTCTC c.2251_2252insGAGA c.(2251-2253)aaafs p.K751fs COADREAD 3 46008818 46008818 + Missense_Mutation SNP T T C TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr3:46008818T>C c.2008A>G c.(2008-2010)Atc>Gtc p.I670V COADREAD 3 46009077 46009077 + Missense_Mutation SNP C C A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr3:46009077C>A c.1749G>T c.(1747-1749)gaG>gaT p.E583D COADREAD 3 46009411 46009411 + Missense_Mutation SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr3:46009411C>T c.1415G>A c.(1414-1416)cGg>cAg p.R472Q COADREAD 3 46009444 46009444 + Missense_Mutation SNP C C A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr3:46009444C>A c.1382G>T c.(1381-1383)gGg>gTg p.G461V COADREAD 3 46009723 46009723 + Missense_Mutation SNP A A G TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr3:46009723A>G c.1103T>C c.(1102-1104)tTc>tCc p.F368S COADREAD 3 46009981 46009981 + Missense_Mutation SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr3:46009981C>T c.845G>A c.(844-846)cGc>cAc p.R282H COADREAD 3 46010071 46010071 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:46010071C>T c.755G>A c.(754-756)cGc>cAc p.R252H COADREAD 3 46010078 46010078 + Missense_Mutation SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr3:46010078G>A c.748C>T c.(748-750)Cgg>Tgg p.R250W COADREAD 3 46011195 46011195 + Missense_Mutation SNP A A G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr3:46011195A>G c.602T>C c.(601-603)aTg>aCg p.M201T COADREAD 3 46014625 46014625 + Missense_Mutation SNP G G A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr3:46014625G>A c.494C>T c.(493-495)gCg>gTg p.A165V COADREAD 3 46014657 46014657 + Silent SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:46014657G>T c.462C>A c.(460-462)ctC>ctA p.L154L COADREAD 3 46016733 46016733 + Silent SNP G G A TCGA-CM-6168-01A-11D-1650-10 TCGA-CM-6168-10A-01D-1650-10 g.chr3:46016733G>A c.393C>T c.(391-393)acC>acT p.T131T COADREAD 3 46016794 46016794 + Missense_Mutation SNP G G A TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr3:46016794G>A c.332C>T c.(331-333)tCc>tTc p.S111F COADREAD 3 46023078 46023078 + Missense_Mutation SNP A A G TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr3:46023078A>G c.146T>C c.(145-147)cTt>cCt p.L49P DLBC 3 46008011 46008011 + Missense_Mutation SNP C C G TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr3:46008011C>G c.2815G>C c.(2815-2817)Gca>Cca p.A939P DLBC 3 46009620 46009620 + Silent SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr3:46009620C>T c.1206G>A c.(1204-1206)gaG>gaA p.E402E ESCA 3 46016794 46016794 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 g.chr3:46016794G>T c.332C>A c.(331-333)tCc>tAc p.S111Y ESCA 3 46021323 46021323 + Splice_Site SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 g.chr3:46021323C>T c.e4-1 GBM 3 45996750 45996750 + Missense_Mutation SNP G G A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 g.chr3:45996750G>A c.3935C>T c.(3934-3936)gCg>gTg p.A1312V GBMLGG 3 45965194 45965194 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:45965194G>A c.4315C>T c.(4315-4317)Cgc>Tgc p.R1439C GBMLGG 3 45996750 45996750 + Missense_Mutation SNP G G A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 g.chr3:45996750G>A c.3935C>T c.(3934-3936)gCg>gTg p.A1312V GBMLGG 3 46007981 46007981 + Missense_Mutation SNP G G A TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 g.chr3:46007981G>A c.2845C>T c.(2845-2847)Cgc>Tgc p.R949C GBMLGG 3 46008666 46008666 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:46008666C>T c.2160G>A c.(2158-2160)caG>caA p.Q720Q GBMLGG 3 46009087 46009087 + Missense_Mutation SNP C C T TCGA-DB-A4XE-01A-11D-A27K-08 TCGA-DB-A4XE-10A-01D-A27N-08 g.chr3:46009087C>T c.1739G>A c.(1738-1740)aGt>aAt p.S580N GBMLGG 3 46009504 46009504 + Missense_Mutation SNP G G A TCGA-HW-A5KM-01A-11D-A27K-08 TCGA-HW-A5KM-10A-01D-A27N-08 g.chr3:46009504G>A c.1322C>T c.(1321-1323)gCc>gTc p.A441V GBMLGG 3 46014621 46014621 + Silent SNP C C T TCGA-E1-5304-01A-01D-1468-08 TCGA-E1-5304-10A-01D-1468-08 g.chr3:46014621C>T c.498G>A c.(496-498)tcG>tcA p.S166S GBMLGG 3 46023170 46023170 + Splice_Site SNP T T C TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 g.chr3:46023170T>C c.e3-2 HNSC 3 46000054 46000054 + Silent SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 g.chr3:46000054G>A c.3645C>T c.(3643-3645)caC>caT p.H1215H HNSC 3 46008174 46008174 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr3:46008174G>A c.2652C>T c.(2650-2652)tcC>tcT p.S884S HNSC 3 46008175 46008175 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr3:46008175G>A c.2651C>T c.(2650-2652)tCc>tTc p.S884F HNSC 3 46008282 46008282 + Silent SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 g.chr3:46008282G>A c.2544C>T c.(2542-2544)tgC>tgT p.C848C HNSC 3 46009275 46009275 + Silent SNP G G A TCGA-C9-A47Z-01A-11D-A24D-08 TCGA-C9-A47Z-10A-01D-A24F-08 g.chr3:46009275G>A c.1551C>T c.(1549-1551)ttC>ttT p.F517F HNSC 3 46009654 46009654 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 g.chr3:46009654G>C c.1172C>G c.(1171-1173)cCt>cGt p.P391R KIPAN 3 45972569 45972569 + Missense_Mutation SNP C C G TCGA-Y8-A896-01A-11D-A35Z-10 TCGA-Y8-A896-10A-01D-A35Z-10 g.chr3:45972569C>G c.4245G>C c.(4243-4245)caG>caC p.Q1415H KIPAN 3 46000087 46000087 + Nonsense_Mutation SNP G G C TCGA-B1-A654-01A-11D-A31X-10 TCGA-B1-A654-10A-01D-A31X-10 g.chr3:46000087G>C c.3612C>G c.(3610-3612)taC>taG p.Y1204* KIPAN 3 46001032 46001032 + Missense_Mutation SNP T T C TCGA-BP-4352-01A-01D-1366-10 TCGA-BP-4352-11A-01D-1366-10 g.chr3:46001032T>C c.3440A>G c.(3439-3441)gAc>gGc p.D1147G KIPAN 3 46008824 46008824 + Missense_Mutation SNP C C T TCGA-G7-6792-01A-21D-1961-08 TCGA-G7-6792-10A-01D-1962-08 g.chr3:46008824C>T c.2002G>A c.(2002-2004)Gcc>Acc p.A668T KIPAN 3 46009603 46009603 + Missense_Mutation SNP T T A TCGA-AK-3460-01A-02D-1361-10 TCGA-AK-3460-10A-01D-1361-10 g.chr3:46009603T>A c.1223A>T c.(1222-1224)cAa>cTa p.Q408L KIPAN 3 46009857 46009857 + Missense_Mutation SNP C C A TCGA-MH-A55W-01A-11D-A26P-10 TCGA-MH-A55W-10A-01D-A26P-10 g.chr3:46009857C>A c.969G>T c.(967-969)gaG>gaT p.E323D KIPAN 3 46009968 46009968 + Silent SNP C C T TCGA-BQ-5885-01A-11D-1589-08 TCGA-BQ-5885-11A-01D-1589-08 g.chr3:46009968C>T c.858G>A c.(856-858)gaG>gaA p.E286E KIRC 3 46001032 46001032 + Missense_Mutation SNP T T C TCGA-BP-4352-01A-01D-1366-10 TCGA-BP-4352-11A-01D-1366-10 g.chr3:46001032T>C c.3440A>G c.(3439-3441)gAc>gGc p.D1147G KIRC 3 46009603 46009603 + Missense_Mutation SNP T T A TCGA-AK-3460-01A-02D-1361-10 TCGA-AK-3460-10A-01D-1361-10 g.chr3:46009603T>A c.1223A>T c.(1222-1224)cAa>cTa p.Q408L KIRP 3 45972569 45972569 + Missense_Mutation SNP C C G TCGA-Y8-A896-01A-11D-A35Z-10 TCGA-Y8-A896-10A-01D-A35Z-10 g.chr3:45972569C>G c.4245G>C c.(4243-4245)caG>caC p.Q1415H KIRP 3 46000087 46000087 + Nonsense_Mutation SNP G G C TCGA-B1-A654-01A-11D-A31X-10 TCGA-B1-A654-10A-01D-A31X-10 g.chr3:46000087G>C c.3612C>G c.(3610-3612)taC>taG p.Y1204* KIRP 3 46008824 46008824 + Missense_Mutation SNP C C T TCGA-G7-6792-01A-21D-1961-08 TCGA-G7-6792-10A-01D-1962-08 g.chr3:46008824C>T c.2002G>A c.(2002-2004)Gcc>Acc p.A668T KIRP 3 46009857 46009857 + Missense_Mutation SNP C C A TCGA-MH-A55W-01A-11D-A26P-10 TCGA-MH-A55W-10A-01D-A26P-10 g.chr3:46009857C>A c.969G>T c.(967-969)gaG>gaT p.E323D KIRP 3 46009968 46009968 + Silent SNP C C T TCGA-BQ-5885-01A-11D-1589-08 TCGA-BQ-5885-11A-01D-1589-08 g.chr3:46009968C>T c.858G>A c.(856-858)gaG>gaA p.E286E LGG 3 45965194 45965194 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:45965194G>A c.4315C>T c.(4315-4317)Cgc>Tgc p.R1439C LGG 3 46007981 46007981 + Missense_Mutation SNP G G A TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 g.chr3:46007981G>A c.2845C>T c.(2845-2847)Cgc>Tgc p.R949C LGG 3 46008666 46008666 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:46008666C>T c.2160G>A c.(2158-2160)caG>caA p.Q720Q LGG 3 46009087 46009087 + Missense_Mutation SNP C C T TCGA-DB-A4XE-01A-11D-A27K-08 TCGA-DB-A4XE-10A-01D-A27N-08 g.chr3:46009087C>T c.1739G>A c.(1738-1740)aGt>aAt p.S580N LGG 3 46009504 46009504 + Missense_Mutation SNP G G A TCGA-HW-A5KM-01A-11D-A27K-08 TCGA-HW-A5KM-10A-01D-A27N-08 g.chr3:46009504G>A c.1322C>T c.(1321-1323)gCc>gTc p.A441V LGG 3 46014621 46014621 + Silent SNP C C T TCGA-E1-5304-01A-01D-1468-08 TCGA-E1-5304-10A-01D-1468-08 g.chr3:46014621C>T c.498G>A c.(496-498)tcG>tcA p.S166S LGG 3 46023170 46023170 + Splice_Site SNP T T C TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 g.chr3:46023170T>C c.e3-2 LIHC 3 45977942 45977942 + Silent SNP C C A TCGA-ED-A8O6-01A-11D-A35Z-10 TCGA-ED-A8O6-10A-01D-A35Z-10 g.chr3:45977942C>A c.4038G>T c.(4036-4038)ctG>ctT p.L1346L LIHC 3 46000930 46000930 + Missense_Mutation SNP T T C TCGA-RC-A7SF-01A-11D-A34Z-10 TCGA-RC-A7SF-10A-01D-A34Z-10 g.chr3:46000930T>C c.3542A>G c.(3541-3543)gAc>gGc p.D1181G LIHC 3 46006599 46006599 + Missense_Mutation SNP T T C TCGA-DD-A73G-01A-22D-A32G-10 TCGA-DD-A73G-10A-01D-A32G-10 g.chr3:46006599T>C c.3076A>G c.(3076-3078)Aag>Gag p.K1026E LIHC 3 46008574 46008574 + Missense_Mutation SNP T T C TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr3:46008574T>C c.2252A>G c.(2251-2253)aAa>aGa p.K751R LIHC 3 46008641 46008641 + Nonsense_Mutation SNP C C A TCGA-KR-A7K8-01A-11D-A33K-10 TCGA-KR-A7K8-10A-01D-A33K-10 g.chr3:46008641C>A c.2185G>T c.(2185-2187)Gag>Tag p.E729* LIHC 3 46010096 46010096 + Missense_Mutation SNP C C T TCGA-DD-AAEG-01A-11D-A38X-10 TCGA-DD-AAEG-10A-01D-A38X-10 g.chr3:46010096C>T c.730G>A c.(730-732)Gtg>Atg p.V244M LIHC 3 46011256 46011256 + Splice_Site SNP T T C TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr3:46011256T>C c.541A>G c.(541-543)Agg>Ggg p.R181G LIHC 3 46021198 46021198 + Splice_Site SNP T T C TCGA-CC-A3MA-01A-11D-A20W-10 TCGA-CC-A3MA-10A-01D-A20W-10 g.chr3:46021198T>C c.287A>G c.(286-288)gAg>gGg p.E96G LUAD 3 45972589 45972589 + Missense_Mutation SNP C C T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr3:45972589C>T c.4225G>A c.(4225-4227)Gag>Aag p.E1409K LUAD 3 45972732 45972732 + Missense_Mutation SNP C C A TCGA-NJ-A4YF-01A-12D-A25L-08 TCGA-NJ-A4YF-10A-01D-A25L-08 g.chr3:45972732C>A c.4082G>T c.(4081-4083)gGg>gTg p.G1361V LUAD 3 46006595 46006595 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 g.chr3:46006595C>A c.3080G>T c.(3079-3081)aGc>aTc p.S1027I LUAD 3 46008032 46008032 + Missense_Mutation SNP C C G TCGA-05-4250-01A-01D-1105-08 TCGA-05-4250-10A-01D-1105-08 g.chr3:46008032C>G c.2794G>C c.(2794-2796)Gag>Cag p.E932Q LUAD 3 46008077 46008077 + Missense_Mutation SNP C C A TCGA-62-A46P-01A-11D-A24D-08 TCGA-62-A46P-10A-01D-A24F-08 g.chr3:46008077C>A c.2749G>T c.(2749-2751)Gtg>Ttg p.V917L LUAD 3 46008428 46008428 + Missense_Mutation SNP G G A TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 g.chr3:46008428G>A c.2398C>T c.(2398-2400)Cgg>Tgg p.R800W LUAD 3 46008734 46008734 + Missense_Mutation SNP T T C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 g.chr3:46008734T>C c.2092A>G c.(2092-2094)Aag>Gag p.K698E LUAD 3 46009082 46009082 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 g.chr3:46009082G>T c.1744C>A c.(1744-1746)Caa>Aaa p.Q582K LUAD 3 46009257 46009257 + Silent SNP T T C TCGA-99-8033-01A-11D-2238-08 TCGA-99-8033-10A-01D-2238-08 g.chr3:46009257T>C c.1569A>G c.(1567-1569)gcA>gcG p.A523A LUAD 3 46009262 46009262 + Silent SNP G G A TCGA-38-4630-01A-01D-1265-08 TCGA-38-4630-11A-01D-1265-08 g.chr3:46009262G>A c.1564C>T c.(1564-1566)Ctg>Ttg p.L522L LUAD 3 46009326 46009326 + Missense_Mutation SNP C C G TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr3:46009326C>G c.1500G>C c.(1498-1500)gaG>gaC p.E500D LUAD 3 46009515 46009515 + Silent SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 g.chr3:46009515C>T c.1311G>A c.(1309-1311)ctG>ctA p.L437L LUAD 3 46009678 46009678 + Missense_Mutation SNP G G A TCGA-86-8056-01A-11D-2238-08 TCGA-86-8056-10A-01D-2238-08 g.chr3:46009678G>A c.1148C>T c.(1147-1149)tCa>tTa p.S383L LUAD 3 46014653 46014653 + Nonsense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 g.chr3:46014653C>A c.466G>T c.(466-468)Gag>Tag p.E156* LUAD 3 46023127 46023127 + Nonsense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 g.chr3:46023127C>A c.97G>T c.(97-99)Gaa>Taa p.E33* LUSC 3 46010092 46010092 + Missense_Mutation SNP C C A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 g.chr3:46010092C>A c.734G>T c.(733-735)cGg>cTg p.R245L OV 3 46003822 46003822 + Missense_Mutation SNP T T C TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 g.chr3:46003822T>C c.3332A>G c.(3331-3333)cAg>cGg p.Q1111R PAAD 3 45996750 45996750 + Missense_Mutation SNP G G A TCGA-OE-A75W-01A-12D-A32N-08 TCGA-OE-A75W-10A-01D-A32N-08 g.chr3:45996750G>A c.3935C>T c.(3934-3936)gCg>gTg p.A1312V PAAD 3 46000100 46000100 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 g.chr3:46000100C>T c.3599G>A c.(3598-3600)cGc>cAc p.R1200H PAAD 3 46000959 46000959 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:46000959G>A c.3513C>T c.(3511-3513)ctC>ctT p.L1171L PAAD 3 46003868 46003868 + Nonsense_Mutation SNP C C A TCGA-YB-A89D-01A-12D-A36O-08 TCGA-YB-A89D-10A-01D-A367-08 g.chr3:46003868C>A c.3286G>T c.(3286-3288)Gaa>Taa p.E1096* PAAD 3 46008354 46008354 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:46008354T>G c.2472A>C c.(2470-2472)aaA>aaC p.K824N PAAD 3 46008506 46008506 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:46008506A>G c.2320T>C c.(2320-2322)Tct>Cct p.S774P PAAD 3 46009639 46009639 + Missense_Mutation SNP G G A TCGA-3A-A9I5-01A-11D-A38G-08 TCGA-3A-A9I5-10A-01D-A38J-08 g.chr3:46009639G>A c.1187C>T c.(1186-1188)gCg>gTg p.A396V PAAD 3 46009639 46009639 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 g.chr3:46009639G>A c.1187C>T c.(1186-1188)gCg>gTg p.A396V PAAD 3 46009639 46009639 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 g.chr3:46009639G>A c.1187C>T c.(1186-1188)gCg>gTg p.A396V PAAD 3 46009639 46009639 + Missense_Mutation SNP G G A TCGA-US-A776-01A-13D-A33T-08 TCGA-US-A776-11A-11D-A33W-08 g.chr3:46009639G>A c.1187C>T c.(1186-1188)gCg>gTg p.A396V PAAD 3 46009762 46009762 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:46009762C>T c.1064G>A c.(1063-1065)cGg>cAg p.R355Q PAAD 3 46021250 46021250 + Missense_Mutation SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 g.chr3:46021250C>T c.235G>A c.(235-237)Gcc>Acc p.A79T PRAD 3 45996750 45996750 + Missense_Mutation SNP G G A TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 g.chr3:45996750G>A c.3935C>T c.(3934-3936)gCg>gTg p.A1312V PRAD 3 46009701 46009701 + Silent SNP A A G TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 g.chr3:46009701A>G c.1125T>C c.(1123-1125)gcT>gcC p.A375A PRAD 3 46021201 46021201 + Missense_Mutation SNP G G A TCGA-HC-7078-01A-11D-2114-08 TCGA-HC-7078-10A-01D-2115-08 g.chr3:46021201G>A c.284C>T c.(283-285)tCa>tTa p.S95L READ 3 46014657 46014657 + Silent SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:46014657G>T c.462C>A c.(460-462)ctC>ctA p.L154L READ 3 46016794 46016794 + Missense_Mutation SNP G G A TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr3:46016794G>A c.332C>T c.(331-333)tCc>tTc p.S111F SARC 3 46014638 46014638 + Nonsense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 g.chr3:46014638G>A c.481C>T c.(481-483)Cag>Tag p.Q161* SKCM 3 45972760 45972760 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:45972760G>A c.4054C>T c.(4054-4056)Ctc>Ttc p.L1352F SKCM 3 46008470 46008470 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr3:46008470G>A c.2356C>T c.(2356-2358)Caa>Taa p.Q786* SKCM 3 46008477 46008477 + Silent SNP C C T TCGA-EB-A5UN-06A-11D-A30X-08 TCGA-EB-A5UN-10A-01D-A30X-08 g.chr3:46008477C>T c.2349G>A c.(2347-2349)ggG>ggA p.G783G SKCM 3 46008746 46008746 + Nonsense_Mutation SNP G G A TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chr3:46008746G>A c.2080C>T c.(2080-2082)Cag>Tag p.Q694* SKCM 3 46009090 46009090 + Missense_Mutation SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr3:46009090G>A c.1736C>T c.(1735-1737)tCc>tTc p.S579F SKCM 3 46009314 46009314 + Silent SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr3:46009314C>T c.1512G>A c.(1510-1512)ctG>ctA p.L504L SKCM 3 46009380 46009380 + Silent SNP G G A TCGA-FS-A1ZP-06A-11D-A197-08 TCGA-FS-A1ZP-10A-01D-A199-08 g.chr3:46009380G>A c.1446C>T c.(1444-1446)tcC>tcT p.S482S SKCM 3 46009752 46009752 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr3:46009752C>T c.1074G>A c.(1072-1074)ctG>ctA p.L358L SKCM 3 46009799 46009799 + Missense_Mutation SNP T T C TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr3:46009799T>C c.1027A>G c.(1027-1029)Atg>Gtg p.M343V SKCM 3 46009867 46009867 + Missense_Mutation SNP T T A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr3:46009867T>A c.959A>T c.(958-960)cAg>cTg p.Q320L SKCM 3 46011172 46011172 + Silent SNP G G A TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr3:46011172G>A c.625C>T c.(625-627)Ctg>Ttg p.L209L SKCM 3 46014621 46014621 + Silent SNP C C T TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr3:46014621C>T c.498G>A c.(496-498)tcG>tcA p.S166S SKCM 3 46014622 46014622 + Missense_Mutation SNP G G A TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr3:46014622G>A c.497C>T c.(496-498)tCg>tTg p.S166L SKCM 3 46021202 46021202 + Missense_Mutation SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr3:46021202A>C c.283T>G c.(283-285)Tca>Gca p.S95A SKCM 3 46023068 46023068 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:46023068G>A c.156C>T c.(154-156)ctC>ctT p.L52L SKCM 3 46023136 46023136 + Missense_Mutation SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr3:46023136C>T c.88G>A c.(88-90)Gaa>Aaa p.E30K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 3 46009490 46009490 single base substitution C T missense_variant E446K 1336G>A BLCA-US 3 46006596 46006596 single base substitution T A missense_variant S1027C 3079A>T BRCA-EU 3 45955022 45955022 single base substitution C T downstream_gene_variant BRCA-EU 3 45955574 45955574 single base substitution G T downstream_gene_variant BRCA-EU 3 45958167 45958167 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 45958613 45958613 single base substitution C A downstream_gene_variant BRCA-EU 3 45959183 45959183 single base substitution C G downstream_gene_variant BRCA-EU 3 45962128 45962128 single base substitution T C 3_prime_UTR_variant BRCA-EU 3 45962128 45962128 single base substitution T C downstream_gene_variant BRCA-EU 3 45962774 45962774 single base substitution C T 3_prime_UTR_variant BRCA-EU 3 45962774 45962774 single base substitution C T downstream_gene_variant BRCA-EU 3 45963277 45963277 single base substitution C T missense_variant D144N 430G>A BRCA-EU 3 45963277 45963277 single base substitution C T missense_variant D1473N 4417G>A BRCA-EU 3 45963277 45963277 single base substitution C T missense_variant D1493N 4477G>A BRCA-EU 3 45963277 45963277 single base substitution C T missense_variant D261N 781G>A BRCA-EU 3 45965387 45965387 single base substitution G C intron_variant BRCA-EU 3 45965566 45965566 single base substitution C T intron_variant BRCA-EU 3 45966448 45966448 single base substitution G C intron_variant BRCA-EU 3 45971405 45971405 single base substitution G T intron_variant BRCA-EU 3 45971630 45971630 single base substitution T C intron_variant BRCA-EU 3 45972345 45972345 single base substitution G A intron_variant BRCA-EU 3 45972826 45972826 single base substitution C T intron_variant BRCA-EU 3 45973970 45973970 single base substitution C G intron_variant BRCA-EU 3 45975539 45975539 single base substitution G A intron_variant BRCA-EU 3 45978241 45978241 single base substitution G A intron_variant BRCA-EU 3 45982500 45982500 single base substitution C A intron_variant BRCA-EU 3 45986604 45986604 single base substitution G C intron_variant BRCA-EU 3 45988753 45988753 single base substitution C T intron_variant BRCA-EU 3 45989089 45989089 single base substitution G C intron_variant BRCA-EU 3 45989865 45989865 single base substitution T C intron_variant BRCA-EU 3 45990422 45990422 single base substitution C G intron_variant BRCA-EU 3 45991174 45991174 single base substitution G A intron_variant BRCA-EU 3 45992963 45992963 single base substitution C T intron_variant BRCA-EU 3 45993757 45993757 single base substitution C G intron_variant BRCA-EU 3 45993942 45993942 single base substitution C G intron_variant BRCA-EU 3 45995176 45995176 single base substitution G T intron_variant BRCA-EU 3 45996074 45996074 single base substitution C A intron_variant BRCA-EU 3 45997086 45997086 single base substitution G C intron_variant BRCA-EU 3 45998900 45998900 single base substitution T A intron_variant BRCA-EU 3 45999413 45999413 single base substitution C G intron_variant BRCA-EU 3 46001105 46001105 single base substitution T A intron_variant BRCA-EU 3 46001105 46001105 single base substitution T A upstream_gene_variant BRCA-EU 3 46001744 46001744 single base substitution G C intron_variant BRCA-EU 3 46001744 46001744 single base substitution G C upstream_gene_variant BRCA-EU 3 46002813 46002813 single base substitution T A intron_variant BRCA-EU 3 46002813 46002813 single base substitution T A upstream_gene_variant BRCA-EU 3 46003248 46003248 single base substitution G C intron_variant BRCA-EU 3 46003248 46003248 single base substitution G C upstream_gene_variant BRCA-EU 3 46009405 46009405 single base substitution T A missense_variant Q474L 1421A>T BRCA-EU 3 46010129 46010129 single base substitution C G missense_variant D233H 697G>C BRCA-EU 3 46010144 46010144 single base substitution C T missense_variant A228T 682G>A BRCA-EU 3 46010396 46010396 single base substitution G C intron_variant BRCA-EU 3 46012603 46012603 single base substitution C T intron_variant BRCA-EU 3 46013045 46013045 single base substitution G C intron_variant BRCA-EU 3 46013524 46013524 deletion of <=200bp A - intron_variant BRCA-EU 3 46014146 46014146 single base substitution A G intron_variant BRCA-EU 3 46014345 46014345 single base substitution T G intron_variant BRCA-EU 3 46015167 46015167 single base substitution A G intron_variant BRCA-EU 3 46015798 46015798 single base substitution G A intron_variant BRCA-EU 3 46015898 46015898 single base substitution A C intron_variant BRCA-EU 3 46016060 46016060 insertion of <=200bp - A intron_variant BRCA-EU 3 46018697 46018697 single base substitution C G intron_variant BRCA-EU 3 46018925 46018925 single base substitution A C intron_variant BRCA-EU 3 46018961 46018961 single base substitution T G intron_variant BRCA-EU 3 46020183 46020183 single base substitution C G intron_variant BRCA-EU 3 46020411 46020411 single base substitution C T intron_variant BRCA-EU 3 46020418 46020418 single base substitution G A intron_variant BRCA-EU 3 46021710 46021710 single base substitution G A downstream_gene_variant BRCA-EU 3 46021710 46021710 single base substitution G A intron_variant BRCA-EU 3 46022458 46022458 single base substitution G A downstream_gene_variant BRCA-EU 3 46022458 46022458 single base substitution G A intron_variant BRCA-EU 3 46024685 46024685 single base substitution G T downstream_gene_variant BRCA-EU 3 46024685 46024685 single base substitution G T intron_variant BRCA-EU 3 46028499 46028499 single base substitution G A intron_variant BRCA-EU 3 46028499 46028499 single base substitution G A upstream_gene_variant BRCA-EU 3 46031638 46031638 single base substitution A T intron_variant BRCA-EU 3 46031739 46031739 single base substitution T C intron_variant BRCA-EU 3 46032274 46032274 deletion of <=200bp T - intron_variant BRCA-EU 3 46032565 46032565 single base substitution C T intron_variant BRCA-EU 3 46034301 46034301 single base substitution C T intron_variant BRCA-EU 3 46034964 46034964 single base substitution C T intron_variant BRCA-EU 3 46037239 46037239 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 3 46037239 46037239 single base substitution G C exon_variant BRCA-EU 3 46037473 46037473 single base substitution G A upstream_gene_variant BRCA-EU 3 46037808 46037808 single base substitution T A upstream_gene_variant BRCA-EU 3 46041085 46041085 single base substitution A G upstream_gene_variant BRCA-EU 3 46041290 46041290 single base substitution C G upstream_gene_variant BRCA-EU 3 46042310 46042310 single base substitution G A upstream_gene_variant BRCA-FR 3 45955022 45955022 single base substitution C T downstream_gene_variant BRCA-FR 3 45959183 45959183 single base substitution C G downstream_gene_variant BRCA-FR 3 45962128 45962128 single base substitution T C 3_prime_UTR_variant BRCA-FR 3 45962128 45962128 single base substitution T C downstream_gene_variant BRCA-FR 3 45965387 45965387 single base substitution G C intron_variant BRCA-FR 3 45971405 45971405 single base substitution G T intron_variant BRCA-FR 3 45982395 45982395 single base substitution C T intron_variant BRCA-FR 3 45993942 45993942 single base substitution C G intron_variant BRCA-FR 3 45997086 45997086 single base substitution G C intron_variant BRCA-FR 3 46020119 46020119 single base substitution T C intron_variant BRCA-FR 3 46020183 46020183 single base substitution C G intron_variant BRCA-FR 3 46034956 46034956 single base substitution G A intron_variant BRCA-FR 3 46034964 46034964 single base substitution C T intron_variant BRCA-UK 3 45983910 45983910 single base substitution G C intron_variant BRCA-UK 3 45987083 45987083 single base substitution A C intron_variant BRCA-UK 3 46009684 46009684 single base substitution G C missense_variant T381R 1142C>G BRCA-UK 3 46010144 46010144 single base substitution C T missense_variant A228T 682G>A BRCA-UK 3 46018697 46018697 single base substitution C G intron_variant BRCA-US 3 45972655 45972655 single base substitution T C missense_variant T1387A 4159A>G BRCA-US 3 45972655 45972655 single base substitution T C missense_variant T1407A 4219A>G BRCA-US 3 45972655 45972655 single base substitution T C missense_variant T175A 523A>G BRCA-US 3 45972655 45972655 single base substitution T C missense_variant T58A 172A>G BRCA-US 3 45988437 45988437 single base substitution T C intron_variant BRCA-US 3 46007805 46007805 single base substitution C G synonymous_variant L1007L 3021G>C BRCA-US 3 46007876 46007876 single base substitution G C missense_variant Q984E 2950C>G BRCA-US 3 46008073 46008073 single base substitution T G missense_variant E918A 2753A>C BRCA-US 3 46008081 46008081 single base substitution C T synonymous_variant L915L 2745G>A BRCA-US 3 46008278 46008278 single base substitution C G missense_variant E850Q 2548G>C BRCA-US 3 46008714 46008714 single base substitution G A synonymous_variant S704S 2112C>T BRCA-US 3 46010138 46010138 deletion of <=200bp C - frameshift_variant E230 BRCA-US 3 46010171 46010171 single base substitution C G missense_variant D219H 655G>C BRCA-US 3 46021263 46021263 single base substitution G T downstream_gene_variant BRCA-US 3 46021263 46021263 single base substitution G T missense_variant F74L 222C>A BTCA-JP 3 45963183 45963183 single base substitution A C 3_prime_UTR_variant BTCA-JP 3 45963183 45963183 single base substitution A C downstream_gene_variant BTCA-JP 3 45977867 45977867 single base substitution G A intron_variant BTCA-JP 3 45999987 45999987 single base substitution C T 5_prime_UTR_variant BTCA-JP 3 45999987 45999987 single base substitution C T missense_variant D1238N 3712G>A BTCA-JP 3 45999987 45999987 single base substitution C T missense_variant D26N 76G>A BTCA-JP 3 46005881 46005881 single base substitution C T synonymous_variant A1072A 3216G>A BTCA-JP 3 46009491 46009491 single base substitution C T synonymous_variant L445L 1335G>A BTCA-JP 3 46009575 46009575 single base substitution G A synonymous_variant V417V 1251C>T CESC-US 3 45988864 45988864 single base substitution G C intron_variant CESC-US 3 45999964 45999964 single base substitution G T 5_prime_UTR_variant CESC-US 3 45999964 45999964 single base substitution G T missense_variant S1245R 3735C>A CESC-US 3 45999964 45999964 single base substitution G T missense_variant S33R 99C>A CESC-US 3 46003742 46003742 single base substitution C T missense_variant E1138K 3412G>A CESC-US 3 46003742 46003742 single base substitution C T upstream_gene_variant CESC-US 3 46008029 46008029 single base substitution G T missense_variant L933I 2797C>A CESC-US 3 46008585 46008585 single base substitution G C synonymous_variant L747L 2241C>G CESC-US 3 46008803 46008803 single base substitution C T missense_variant D675N 2023G>A CESC-US 3 46008968 46008968 single base substitution C T missense_variant E620K 1858G>A CESC-US 3 46008989 46008989 single base substitution C T missense_variant E613K 1837G>A CESC-US 3 46009302 46009302 single base substitution G T synonymous_variant V508V 1524C>A CLLE-ES 3 45957627 45957627 single base substitution A G downstream_gene_variant CLLE-ES 3 45959204 45959204 single base substitution C T downstream_gene_variant CLLE-ES 3 45987195 45987195 single base substitution A G intron_variant CLLE-ES 3 46027900 46027900 single base substitution C T intron_variant CLLE-ES 3 46027900 46027900 single base substitution C T upstream_gene_variant COAD-US 3 45965165 45965165 single base substitution G A synonymous_variant F119F 357C>T COAD-US 3 45965165 45965165 single base substitution G A synonymous_variant F1448F 4344C>T COAD-US 3 45965165 45965165 single base substitution G A synonymous_variant F1468F 4404C>T COAD-US 3 45965165 45965165 single base substitution G A synonymous_variant F236F 708C>T COAD-US 3 45972609 45972609 single base substitution C T missense_variant S1402N 4205G>A COAD-US 3 45972609 45972609 single base substitution C T missense_variant S1422N 4265G>A COAD-US 3 45972609 45972609 single base substitution C T missense_variant S190N 569G>A COAD-US 3 45972609 45972609 single base substitution C T missense_variant S73N 218G>A COAD-US 3 45972733 45972733 single base substitution C T missense_variant G1361R 4081G>A COAD-US 3 45972733 45972733 single base substitution C T missense_variant G1381R 4141G>A COAD-US 3 45972733 45972733 single base substitution C T missense_variant G149R 445G>A COAD-US 3 45972733 45972733 single base substitution C T missense_variant G32R 94G>A COAD-US 3 45977986 45977986 single base substitution C T missense_variant V120M 358G>A COAD-US 3 45977986 45977986 single base substitution C T missense_variant V1332M 3994G>A COAD-US 3 45977986 45977986 single base substitution C T missense_variant V1352M 4054G>A COAD-US 3 45977986 45977986 single base substitution C T missense_variant V3M 7G>A COAD-US 3 45988069 45988069 single base substitution C T intron_variant COAD-US 3 46008574 46008574 insertion of <=200bp - TCTC frameshift_variant K751KR? COAD-US 3 46008790 46008790 single base substitution G A missense_variant A679V 2036C>T COAD-US 3 46009077 46009077 single base substitution C A missense_variant E583D 1749G>T COAD-US 3 46009444 46009444 single base substitution C A missense_variant G461V 1382G>T COAD-US 3 46009491 46009491 single base substitution C T synonymous_variant L445L 1335G>A COAD-US 3 46010071 46010071 single base substitution C T missense_variant R252H 755G>A COAD-US 3 46010078 46010078 single base substitution G A missense_variant R250W 748C>T COAD-US 3 46011195 46011195 single base substitution A G missense_variant M201T 602T>C COAD-US 3 46016733 46016733 single base substitution G A splice_region_variant COCA-CN 3 45965386 45965386 single base substitution G A intron_variant COCA-CN 3 45978012 45978012 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 3 45978012 45978012 single base substitution G A missense_variant T111M 332C>T COCA-CN 3 45978012 45978012 single base substitution G A missense_variant T1323M 3968C>T COCA-CN 3 45978012 45978012 single base substitution G A missense_variant T1343M 4028C>T COCA-CN 3 46001106 46001106 single base substitution C A intron_variant COCA-CN 3 46001106 46001106 single base substitution C A upstream_gene_variant COCA-CN 3 46003868 46003868 single base substitution C T missense_variant E1096K 3286G>A COCA-CN 3 46003868 46003868 single base substitution C T upstream_gene_variant COCA-CN 3 46003869 46003869 single base substitution G A synonymous_variant L1095L 3285C>T COCA-CN 3 46003869 46003869 single base substitution G A upstream_gene_variant COCA-CN 3 46005754 46005754 single base substitution A C intron_variant COCA-CN 3 46007702 46007702 single base substitution T C intron_variant COCA-CN 3 46008077 46008077 single base substitution C T missense_variant V917M 2749G>A COCA-CN 3 46009157 46009157 single base substitution C A missense_variant A557S 1669G>T COCA-CN 3 46009408 46009408 single base substitution A G missense_variant L473P 1418T>C COCA-CN 3 46009708 46009708 single base substitution G T missense_variant A373D 1118C>A COCA-CN 3 46009972 46009972 single base substitution G A missense_variant A285V 854C>T COCA-CN 3 46014706 46014706 single base substitution C T missense_variant R138K 413G>A COCA-CN 3 46016599 46016599 single base substitution T G intron_variant ESAD-UK 3 45954571 45954571 single base substitution C T downstream_gene_variant ESAD-UK 3 45956420 45956420 single base substitution G A downstream_gene_variant ESAD-UK 3 45956998 45956998 single base substitution C T downstream_gene_variant ESAD-UK 3 45957859 45957859 single base substitution G A downstream_gene_variant ESAD-UK 3 45959778 45959778 single base substitution A G 3_prime_UTR_variant ESAD-UK 3 45959778 45959778 single base substitution A G downstream_gene_variant ESAD-UK 3 45960159 45960159 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 45960159 45960159 single base substitution C T downstream_gene_variant ESAD-UK 3 45961386 45961386 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 45961386 45961386 single base substitution C T downstream_gene_variant ESAD-UK 3 45968184 45968184 single base substitution C T intron_variant ESAD-UK 3 45968631 45968631 single base substitution T C intron_variant ESAD-UK 3 45969100 45969100 single base substitution G A intron_variant ESAD-UK 3 45975534 45975534 single base substitution T C intron_variant ESAD-UK 3 45976247 45976247 single base substitution C T intron_variant ESAD-UK 3 45979344 45979344 single base substitution C T intron_variant ESAD-UK 3 45980154 45980154 single base substitution T G intron_variant ESAD-UK 3 45983071 45983071 single base substitution C A intron_variant ESAD-UK 3 45985709 45985709 insertion of <=200bp - TA intron_variant ESAD-UK 3 45986883 45986883 single base substitution C T intron_variant ESAD-UK 3 45993587 45993587 single base substitution C T intron_variant ESAD-UK 3 45994438 45994438 single base substitution G T intron_variant ESAD-UK 3 45996058 45996058 single base substitution G A intron_variant ESAD-UK 3 46000565 46000565 single base substitution C A intron_variant ESAD-UK 3 46000565 46000565 single base substitution C A upstream_gene_variant ESAD-UK 3 46007270 46007270 single base substitution A C intron_variant ESAD-UK 3 46007296 46007296 single base substitution C T intron_variant ESAD-UK 3 46007917 46007917 single base substitution G T missense_variant A970E 2909C>A ESAD-UK 3 46010708 46010708 single base substitution C T intron_variant ESAD-UK 3 46013383 46013383 single base substitution C A intron_variant ESAD-UK 3 46013580 46013580 single base substitution A G intron_variant ESAD-UK 3 46013797 46013797 single base substitution A T intron_variant ESAD-UK 3 46019620 46019620 single base substitution A G intron_variant ESAD-UK 3 46019826 46019826 single base substitution C G intron_variant ESAD-UK 3 46020185 46020185 single base substitution A G intron_variant ESAD-UK 3 46024735 46024735 single base substitution A C downstream_gene_variant ESAD-UK 3 46024735 46024735 single base substitution A C intron_variant ESAD-UK 3 46024965 46024965 single base substitution T C downstream_gene_variant ESAD-UK 3 46024965 46024965 single base substitution T C intron_variant ESAD-UK 3 46025759 46025759 single base substitution C A downstream_gene_variant ESAD-UK 3 46025759 46025759 single base substitution C A intron_variant ESAD-UK 3 46027958 46027958 single base substitution T C intron_variant ESAD-UK 3 46027958 46027958 single base substitution T C upstream_gene_variant ESAD-UK 3 46027966 46027966 single base substitution G C intron_variant ESAD-UK 3 46027966 46027966 single base substitution G C upstream_gene_variant ESAD-UK 3 46030151 46030151 single base substitution C T intron_variant ESAD-UK 3 46030151 46030151 single base substitution C T upstream_gene_variant ESAD-UK 3 46033913 46033913 single base substitution C T intron_variant ESAD-UK 3 46033930 46033930 single base substitution A C intron_variant ESAD-UK 3 46037957 46037957 single base substitution A G upstream_gene_variant ESAD-UK 3 46038608 46038608 single base substitution C T upstream_gene_variant ESAD-UK 3 46039059 46039059 single base substitution C T upstream_gene_variant ESAD-UK 3 46039667 46039667 single base substitution C T upstream_gene_variant ESCA-CN 3 45963268 45963268 single base substitution C T missense_variant D1476N 4426G>A ESCA-CN 3 45963268 45963268 single base substitution C T missense_variant D147N 439G>A ESCA-CN 3 45963268 45963268 single base substitution C T missense_variant D1496N 4486G>A ESCA-CN 3 45963268 45963268 single base substitution C T missense_variant D264N 790G>A ESCA-CN 3 45963292 45963292 single base substitution G A missense_variant R139W 415C>T ESCA-CN 3 45963292 45963292 single base substitution G A missense_variant R1468W 4402C>T ESCA-CN 3 45963292 45963292 single base substitution G A missense_variant R1488W 4462C>T ESCA-CN 3 45963292 45963292 single base substitution G A missense_variant R256W 766C>T ESCA-CN 3 45988384 45988384 single base substitution C T intron_variant GBM-US 3 45996750 45996750 single base substitution G A 5_prime_UTR_variant GBM-US 3 45996750 45996750 single base substitution G A missense_variant A100V 299C>T GBM-US 3 45996750 45996750 single base substitution G A missense_variant A1312V 3935C>T KIRC-US 3 45988547 45988547 single base substitution C T intron_variant KIRC-US 3 45988808 45988808 single base substitution C T intron_variant KIRC-US 3 46001032 46001032 single base substitution T C missense_variant D1147G 3440A>G KIRC-US 3 46001032 46001032 single base substitution T C upstream_gene_variant KIRC-US 3 46009603 46009603 single base substitution T A missense_variant Q408L 1223A>T KIRP-US 3 46000087 46000087 single base substitution G C 5_prime_UTR_variant KIRP-US 3 46000087 46000087 single base substitution G C stop_gained Y1204* 3612C>G KIRP-US 3 46000087 46000087 single base substitution G C upstream_gene_variant KIRP-US 3 46008824 46008824 single base substitution C T missense_variant A668T 2002G>A KIRP-US 3 46009857 46009857 single base substitution C A missense_variant E323D 969G>T KIRP-US 3 46009968 46009968 single base substitution C T synonymous_variant E286E 858G>A LAML-KR 3 45957543 45957543 single base substitution A G downstream_gene_variant LAML-KR 3 45966166 45966166 single base substitution A G intron_variant LGG-US 3 46009087 46009087 single base substitution C T missense_variant S580N 1739G>A LGG-US 3 46014621 46014621 single base substitution C T synonymous_variant S166S 498G>A LGG-US 3 46023170 46023170 single base substitution T C downstream_gene_variant LGG-US 3 46023170 46023170 single base substitution T C splice_acceptor_variant LICA-CN 3 46009541 46009541 single base substitution C T missense_variant E429K 1285G>A LICA-CN 3 46014655 46014655 single base substitution T A missense_variant Y155F 464A>T LICA-FR 3 45955780 45955781 deletion of <=200bp TT - downstream_gene_variant LICA-FR 3 45998546 45998546 single base substitution T G intron_variant LICA-FR 3 46006937 46006937 single base substitution G A intron_variant LICA-FR 3 46008489 46008489 single base substitution T A missense_variant E779D 2337A>T LICA-FR 3 46022769 46022769 deletion of <=200bp A - downstream_gene_variant LICA-FR 3 46022769 46022769 deletion of <=200bp A - intron_variant LICA-FR 3 46022904 46022904 single base substitution T C downstream_gene_variant LICA-FR 3 46022904 46022904 single base substitution T C intron_variant LICA-FR 3 46023060 46023061 deletion of <=200bp AC - downstream_gene_variant LICA-FR 3 46023060 46023061 deletion of <=200bp AC - splice_donor_variant LICA-FR 3 46023345 46023345 single base substitution T C downstream_gene_variant LICA-FR 3 46023345 46023345 single base substitution T C intron_variant LIHC-US 3 45988614 45988614 single base substitution T C intron_variant LIHC-US 3 46000930 46000930 single base substitution T C missense_variant D1181G 3542A>G LIHC-US 3 46000930 46000930 single base substitution T C upstream_gene_variant LIHC-US 3 46006599 46006599 single base substitution T C missense_variant K1026E 3076A>G LIHC-US 3 46008641 46008641 single base substitution C A stop_gained E729* 2185G>T LIHC-US 3 46011256 46011256 single base substitution T C missense_variant R181G 541A>G LIHC-US 3 46021198 46021198 single base substitution T C downstream_gene_variant LIHC-US 3 46021198 46021198 single base substitution T C missense_variant E96G 287A>G LINC-JP 3 45955871 45955871 single base substitution C A downstream_gene_variant LINC-JP 3 45962808 45962808 single base substitution T C 3_prime_UTR_variant LINC-JP 3 45962808 45962808 single base substitution T C downstream_gene_variant LINC-JP 3 45966726 45966726 deletion of <=200bp T - intron_variant LINC-JP 3 45968984 45968984 single base substitution C T intron_variant LINC-JP 3 45972615 45972615 single base substitution G A missense_variant S1400F 4199C>T LINC-JP 3 45972615 45972615 single base substitution G A missense_variant S1420F 4259C>T LINC-JP 3 45972615 45972615 single base substitution G A missense_variant S188F 563C>T LINC-JP 3 45972615 45972615 single base substitution G A missense_variant S71F 212C>T LINC-JP 3 45975107 45975107 single base substitution A T intron_variant LINC-JP 3 45979068 45979068 single base substitution A C intron_variant LINC-JP 3 45984176 45984176 single base substitution T A intron_variant LINC-JP 3 46002583 46002583 single base substitution G T intron_variant LINC-JP 3 46002583 46002583 single base substitution G T upstream_gene_variant LINC-JP 3 46007143 46007143 single base substitution G A intron_variant LINC-JP 3 46007564 46007564 single base substitution C T intron_variant LINC-JP 3 46008941 46008941 single base substitution C T missense_variant V629I 1885G>A LINC-JP 3 46015928 46015928 single base substitution A G intron_variant LIRI-JP 3 45956084 45956084 single base substitution G A downstream_gene_variant LIRI-JP 3 45958592 45958592 single base substitution G A downstream_gene_variant LIRI-JP 3 45961445 45961445 single base substitution A T 3_prime_UTR_variant LIRI-JP 3 45961445 45961445 single base substitution A T downstream_gene_variant LIRI-JP 3 45961658 45961658 single base substitution G C 3_prime_UTR_variant LIRI-JP 3 45961658 45961658 single base substitution G C downstream_gene_variant LIRI-JP 3 45962618 45962640 deletion of <=200bp GAGTGCAGCTTAGAGGCCCCTCC - 3_prime_UTR_variant LIRI-JP 3 45962618 45962640 deletion of <=200bp GAGTGCAGCTTAGAGGCCCCTCC - downstream_gene_variant LIRI-JP 3 45962695 45962695 single base substitution A C 3_prime_UTR_variant LIRI-JP 3 45962695 45962695 single base substitution A C downstream_gene_variant LIRI-JP 3 45962792 45962792 single base substitution C T 3_prime_UTR_variant LIRI-JP 3 45962792 45962792 single base substitution C T downstream_gene_variant LIRI-JP 3 45964233 45964233 single base substitution T C intron_variant LIRI-JP 3 45964744 45964744 single base substitution T C intron_variant LIRI-JP 3 45965045 45965045 deletion of <=200bp T - intron_variant LIRI-JP 3 45966828 45966828 single base substitution G T intron_variant LIRI-JP 3 45968505 45968505 single base substitution C T intron_variant LIRI-JP 3 45972310 45972310 single base substitution C T intron_variant LIRI-JP 3 45972318 45972318 single base substitution A G intron_variant LIRI-JP 3 45972473 45972473 single base substitution T C intron_variant LIRI-JP 3 45973078 45973078 single base substitution C A intron_variant LIRI-JP 3 45974031 45974031 single base substitution T C intron_variant LIRI-JP 3 45974705 45974705 single base substitution T A intron_variant LIRI-JP 3 45976035 45976035 single base substitution C T intron_variant LIRI-JP 3 45977358 45977358 single base substitution T C intron_variant LIRI-JP 3 45986492 45986492 single base substitution T G intron_variant LIRI-JP 3 45987203 45987203 single base substitution T A intron_variant LIRI-JP 3 45988416 45988416 single base substitution G C intron_variant LIRI-JP 3 45989618 45989618 single base substitution T G intron_variant LIRI-JP 3 45990255 45990255 single base substitution T C intron_variant LIRI-JP 3 45991856 45991856 single base substitution A G intron_variant LIRI-JP 3 45992887 45992887 single base substitution T G intron_variant LIRI-JP 3 45993377 45993377 single base substitution C A intron_variant LIRI-JP 3 45994163 45994163 single base substitution T C intron_variant LIRI-JP 3 45995354 45995354 single base substitution C A intron_variant LIRI-JP 3 45996733 45996733 single base substitution C G splice_region_variant LIRI-JP 3 46005699 46005699 single base substitution C A intron_variant LIRI-JP 3 46010593 46010593 single base substitution T A intron_variant LIRI-JP 3 46010632 46010632 single base substitution T G intron_variant LIRI-JP 3 46013666 46013666 single base substitution G C intron_variant LIRI-JP 3 46015173 46015173 single base substitution A T intron_variant LIRI-JP 3 46024915 46024915 single base substitution C T downstream_gene_variant LIRI-JP 3 46024915 46024915 single base substitution C T intron_variant LIRI-JP 3 46025203 46025203 single base substitution T C downstream_gene_variant LIRI-JP 3 46025203 46025203 single base substitution T C intron_variant LIRI-JP 3 46025832 46025832 single base substitution G A downstream_gene_variant LIRI-JP 3 46025832 46025832 single base substitution G A intron_variant LIRI-JP 3 46034977 46034977 single base substitution T C intron_variant LIRI-JP 3 46037955 46037955 single base substitution G A upstream_gene_variant LIRI-JP 3 46039851 46039851 single base substitution C G upstream_gene_variant LUSC-KR 3 45973601 45973601 single base substitution C A intron_variant LUSC-KR 3 45974381 45974381 single base substitution T C intron_variant LUSC-KR 3 45981611 45981611 single base substitution T G intron_variant LUSC-KR 3 45990394 45990394 single base substitution T C intron_variant LUSC-KR 3 46005818 46005818 single base substitution T A intron_variant LUSC-KR 3 46006719 46006719 single base substitution T C intron_variant LUSC-KR 3 46010113 46010113 single base substitution T G missense_variant E238A 713A>C LUSC-KR 3 46017807 46017807 single base substitution C T intron_variant LUSC-KR 3 46037950 46037950 single base substitution G T upstream_gene_variant LUSC-KR 3 46039045 46039045 single base substitution T A upstream_gene_variant LUSC-KR 3 46040933 46040933 single base substitution T C upstream_gene_variant LUSC-US 3 46010092 46010092 single base substitution C A missense_variant R245L 734G>T MALY-DE 3 45968378 45968378 single base substitution C T intron_variant MALY-DE 3 45978358 45978358 single base substitution T C intron_variant MALY-DE 3 45985176 45985176 single base substitution T C intron_variant MALY-DE 3 45985689 45985690 deletion of <=200bp TG - intron_variant MALY-DE 3 45988896 45988896 single base substitution G A intron_variant MALY-DE 3 45995627 45995627 single base substitution C T intron_variant MALY-DE 3 46018809 46018809 single base substitution C A intron_variant MALY-DE 3 46024154 46024154 single base substitution C T downstream_gene_variant MALY-DE 3 46024154 46024154 single base substitution C T intron_variant MALY-DE 3 46037491 46037491 single base substitution G A upstream_gene_variant MELA-AU 3 45954948 45954948 single base substitution G A downstream_gene_variant MELA-AU 3 45955212 45955212 single base substitution C T downstream_gene_variant MELA-AU 3 45955517 45955517 single base substitution G A downstream_gene_variant MELA-AU 3 45955763 45955763 single base substitution G A downstream_gene_variant MELA-AU 3 45956035 45956035 single base substitution G A downstream_gene_variant MELA-AU 3 45956142 45956142 single base substitution T C downstream_gene_variant MELA-AU 3 45956975 45956975 single base substitution G A downstream_gene_variant MELA-AU 3 45957003 45957003 single base substitution G A downstream_gene_variant MELA-AU 3 45957421 45957421 single base substitution G A downstream_gene_variant MELA-AU 3 45957666 45957666 single base substitution G A downstream_gene_variant MELA-AU 3 45957668 45957668 single base substitution G A downstream_gene_variant MELA-AU 3 45957985 45957985 single base substitution G A downstream_gene_variant MELA-AU 3 45958039 45958039 single base substitution G T downstream_gene_variant MELA-AU 3 45958129 45958129 single base substitution G A downstream_gene_variant MELA-AU 3 45958364 45958366 deletion of <=200bp CTC - downstream_gene_variant MELA-AU 3 45958447 45958447 single base substitution G A downstream_gene_variant MELA-AU 3 45958932 45958932 single base substitution G A downstream_gene_variant MELA-AU 3 45959936 45959936 single base substitution C T 3_prime_UTR_variant MELA-AU 3 45959936 45959936 single base substitution C T downstream_gene_variant MELA-AU 3 45960107 45960107 single base substitution G A 3_prime_UTR_variant MELA-AU 3 45960107 45960107 single base substitution G A downstream_gene_variant MELA-AU 3 45960621 45960621 single base substitution T C 3_prime_UTR_variant MELA-AU 3 45960621 45960621 single base substitution T C downstream_gene_variant MELA-AU 3 45960621 45960621 single base substitution T C intron_variant MELA-AU 3 45961177 45961177 single base substitution C T 3_prime_UTR_variant MELA-AU 3 45961177 45961177 single base substitution C T downstream_gene_variant MELA-AU 3 45961300 45961300 single base substitution G A 3_prime_UTR_variant MELA-AU 3 45961300 45961300 single base substitution G A downstream_gene_variant MELA-AU 3 45961396 45961396 single base substitution G A 3_prime_UTR_variant MELA-AU 3 45961396 45961396 single base substitution G A downstream_gene_variant MELA-AU 3 45961424 45961424 single base substitution G A 3_prime_UTR_variant MELA-AU 3 45961424 45961424 single base substitution G A downstream_gene_variant MELA-AU 3 45961493 45961493 single base substitution G A 3_prime_UTR_variant MELA-AU 3 45961493 45961493 single base substitution G A downstream_gene_variant MELA-AU 3 45961760 45961760 single base substitution A T 3_prime_UTR_variant MELA-AU 3 45961760 45961760 single base substitution A T downstream_gene_variant MELA-AU 3 45962077 45962077 single base substitution G A 3_prime_UTR_variant MELA-AU 3 45962077 45962077 single base substitution G A downstream_gene_variant MELA-AU 3 45962185 45962185 single base substitution G A 3_prime_UTR_variant MELA-AU 3 45962185 45962185 single base substitution G A downstream_gene_variant MELA-AU 3 45962634 45962635 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 3 45962634 45962635 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 45962790 45962790 single base substitution G A 3_prime_UTR_variant MELA-AU 3 45962790 45962790 single base substitution G A downstream_gene_variant MELA-AU 3 45963499 45963499 single base substitution A G intron_variant MELA-AU 3 45963528 45963528 single base substitution G A intron_variant MELA-AU 3 45963674 45963674 single base substitution G A intron_variant MELA-AU 3 45963695 45963695 single base substitution G A intron_variant MELA-AU 3 45963868 45963868 single base substitution C T intron_variant MELA-AU 3 45964156 45964156 single base substitution G A intron_variant MELA-AU 3 45964176 45964176 single base substitution G A intron_variant MELA-AU 3 45964228 45964228 single base substitution G T intron_variant MELA-AU 3 45964349 45964349 single base substitution C T intron_variant MELA-AU 3 45964665 45964665 single base substitution G A intron_variant MELA-AU 3 45964808 45964808 single base substitution G A intron_variant MELA-AU 3 45965194 45965194 single base substitution G A missense_variant R110C 328C>T MELA-AU 3 45965194 45965194 single base substitution G A missense_variant R1439C 4315C>T MELA-AU 3 45965194 45965194 single base substitution G A missense_variant R1459C 4375C>T MELA-AU 3 45965194 45965194 single base substitution G A missense_variant R227C 679C>T MELA-AU 3 45965228 45965228 single base substitution G A synonymous_variant S1427S 4281C>T MELA-AU 3 45965228 45965228 single base substitution G A synonymous_variant S1447S 4341C>T MELA-AU 3 45965228 45965228 single base substitution G A synonymous_variant S215S 645C>T MELA-AU 3 45965228 45965228 single base substitution G A synonymous_variant S98S 294C>T MELA-AU 3 45965991 45965991 single base substitution G A intron_variant MELA-AU 3 45966898 45966898 single base substitution C T intron_variant MELA-AU 3 45967352 45967352 single base substitution G A intron_variant MELA-AU 3 45967548 45967548 single base substitution G A intron_variant MELA-AU 3 45967943 45967943 single base substitution G A intron_variant MELA-AU 3 45969392 45969392 single base substitution G A intron_variant MELA-AU 3 45969824 45969824 single base substitution G A intron_variant MELA-AU 3 45970165 45970166 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 45970252 45970252 single base substitution G A intron_variant MELA-AU 3 45970876 45970876 single base substitution G A intron_variant MELA-AU 3 45970971 45970971 single base substitution G A intron_variant MELA-AU 3 45971196 45971196 single base substitution G A intron_variant MELA-AU 3 45971255 45971255 single base substitution G A intron_variant MELA-AU 3 45973290 45973290 single base substitution G A intron_variant MELA-AU 3 45973523 45973524 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 45974125 45974125 single base substitution G A intron_variant MELA-AU 3 45974272 45974272 single base substitution G A intron_variant MELA-AU 3 45974404 45974404 single base substitution T C intron_variant MELA-AU 3 45975549 45975549 single base substitution A G intron_variant MELA-AU 3 45975607 45975607 single base substitution A T intron_variant MELA-AU 3 45975692 45975692 single base substitution G A intron_variant MELA-AU 3 45975709 45975709 single base substitution G A intron_variant MELA-AU 3 45977342 45977342 single base substitution T G intron_variant MELA-AU 3 45977449 45977449 single base substitution A C intron_variant MELA-AU 3 45977700 45977700 single base substitution G A intron_variant MELA-AU 3 45978283 45978283 single base substitution G A intron_variant MELA-AU 3 45978496 45978496 single base substitution G A intron_variant MELA-AU 3 45978884 45978884 single base substitution G A intron_variant MELA-AU 3 45979541 45979541 single base substitution A T intron_variant MELA-AU 3 45979663 45979663 single base substitution G A intron_variant MELA-AU 3 45979977 45979977 single base substitution G A intron_variant MELA-AU 3 45980451 45980451 single base substitution G A intron_variant MELA-AU 3 45981707 45981707 single base substitution G A intron_variant MELA-AU 3 45981847 45981847 single base substitution G A intron_variant MELA-AU 3 45982484 45982484 single base substitution C G intron_variant MELA-AU 3 45982560 45982560 single base substitution G A intron_variant MELA-AU 3 45982956 45982956 single base substitution T C intron_variant MELA-AU 3 45983897 45983897 single base substitution G A intron_variant MELA-AU 3 45985708 45985708 single base substitution G A intron_variant MELA-AU 3 45986313 45986313 single base substitution A G intron_variant MELA-AU 3 45987288 45987289 multiple base substitution (>=2bp and <=200bp) GG CA intron_variant MELA-AU 3 45987365 45987365 single base substitution G A intron_variant MELA-AU 3 45987460 45987460 single base substitution G A intron_variant MELA-AU 3 45987995 45987995 single base substitution G T intron_variant MELA-AU 3 45988601 45988601 single base substitution T C intron_variant MELA-AU 3 45989325 45989325 single base substitution G A intron_variant MELA-AU 3 45989326 45989326 single base substitution A T intron_variant MELA-AU 3 45989477 45989477 deletion of <=200bp G - intron_variant MELA-AU 3 45989477 45989477 single base substitution G C intron_variant MELA-AU 3 45989548 45989548 single base substitution G C intron_variant MELA-AU 3 45989585 45989585 single base substitution G A intron_variant MELA-AU 3 45989687 45989687 single base substitution G C intron_variant MELA-AU 3 45989828 45989828 single base substitution T A intron_variant MELA-AU 3 45990058 45990058 single base substitution G C intron_variant MELA-AU 3 45990530 45990530 single base substitution T A intron_variant MELA-AU 3 45990721 45990721 single base substitution C T intron_variant MELA-AU 3 45991112 45991112 single base substitution G A intron_variant MELA-AU 3 45991817 45991818 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 45991860 45991860 single base substitution G C intron_variant MELA-AU 3 45991870 45991870 single base substitution G T intron_variant MELA-AU 3 45991941 45991941 single base substitution G T intron_variant MELA-AU 3 45992028 45992028 single base substitution G A intron_variant MELA-AU 3 45992067 45992067 single base substitution G A intron_variant MELA-AU 3 45992169 45992169 single base substitution G C intron_variant MELA-AU 3 45992191 45992191 single base substitution G C intron_variant MELA-AU 3 45992340 45992340 single base substitution G A intron_variant MELA-AU 3 45992420 45992420 single base substitution G C intron_variant MELA-AU 3 45992527 45992527 single base substitution G C intron_variant MELA-AU 3 45992611 45992611 single base substitution G C intron_variant MELA-AU 3 45992724 45992724 single base substitution G C intron_variant MELA-AU 3 45993515 45993515 single base substitution G A intron_variant MELA-AU 3 45994388 45994388 single base substitution G T intron_variant MELA-AU 3 45994453 45994453 single base substitution G A intron_variant MELA-AU 3 45994604 45994604 single base substitution G A intron_variant MELA-AU 3 45994816 45994816 single base substitution C A intron_variant MELA-AU 3 45995272 45995272 single base substitution C T intron_variant MELA-AU 3 45995412 45995412 single base substitution C T intron_variant MELA-AU 3 45995663 45995664 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 45996024 45996024 single base substitution G A intron_variant MELA-AU 3 45996602 45996602 single base substitution G A intron_variant MELA-AU 3 45997372 45997372 single base substitution G A intron_variant MELA-AU 3 45997404 45997404 single base substitution G A intron_variant MELA-AU 3 45997686 45997686 single base substitution G A intron_variant MELA-AU 3 45998059 45998061 deletion of <=200bp TTC - intron_variant MELA-AU 3 45998245 45998245 single base substitution T C intron_variant MELA-AU 3 45998910 45998910 single base substitution G A intron_variant MELA-AU 3 45999439 45999439 single base substitution T C intron_variant MELA-AU 3 45999442 45999442 single base substitution A T intron_variant MELA-AU 3 45999990 45999990 single base substitution G A 5_prime_UTR_variant MELA-AU 3 45999990 45999990 single base substitution G A missense_variant P1237S 3709C>T MELA-AU 3 45999990 45999990 single base substitution G A missense_variant P25S 73C>T MELA-AU 3 46000686 46000686 single base substitution G A intron_variant MELA-AU 3 46000686 46000686 single base substitution G A upstream_gene_variant MELA-AU 3 46001508 46001508 single base substitution C T intron_variant MELA-AU 3 46001508 46001508 single base substitution C T upstream_gene_variant MELA-AU 3 46001980 46001980 single base substitution C T intron_variant MELA-AU 3 46001980 46001980 single base substitution C T upstream_gene_variant MELA-AU 3 46002131 46002131 single base substitution G A intron_variant MELA-AU 3 46002131 46002131 single base substitution G A upstream_gene_variant MELA-AU 3 46002660 46002660 single base substitution G A intron_variant MELA-AU 3 46002660 46002660 single base substitution G A upstream_gene_variant MELA-AU 3 46003145 46003145 single base substitution G A intron_variant MELA-AU 3 46003145 46003145 single base substitution G A upstream_gene_variant MELA-AU 3 46003319 46003319 single base substitution G A intron_variant MELA-AU 3 46003319 46003319 single base substitution G A upstream_gene_variant MELA-AU 3 46004521 46004521 single base substitution C T intron_variant MELA-AU 3 46004521 46004521 single base substitution C T upstream_gene_variant MELA-AU 3 46005902 46005902 single base substitution G A synonymous_variant N1065N 3195C>T MELA-AU 3 46006230 46006230 single base substitution A T intron_variant MELA-AU 3 46006355 46006355 single base substitution C T intron_variant MELA-AU 3 46006609 46006609 single base substitution A C synonymous_variant G1022G 3066T>G MELA-AU 3 46007000 46007001 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 46008036 46008036 single base substitution G A synonymous_variant V930V 2790C>T MELA-AU 3 46008372 46008372 single base substitution G A synonymous_variant A818A 2454C>T MELA-AU 3 46009068 46009068 single base substitution C T synonymous_variant G586G 1758G>A MELA-AU 3 46009993 46009993 single base substitution C T missense_variant R278K 833G>A MELA-AU 3 46010244 46010245 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 46010834 46010834 single base substitution C T intron_variant MELA-AU 3 46010976 46010976 deletion of <=200bp A - intron_variant MELA-AU 3 46011012 46011012 single base substitution A G intron_variant MELA-AU 3 46011136 46011136 single base substitution G A intron_variant MELA-AU 3 46011226 46011226 single base substitution G A synonymous_variant L191L 571C>T MELA-AU 3 46012012 46012012 single base substitution G A intron_variant MELA-AU 3 46012087 46012087 single base substitution G T intron_variant MELA-AU 3 46013127 46013127 single base substitution C T intron_variant MELA-AU 3 46013536 46013536 single base substitution A G intron_variant MELA-AU 3 46014093 46014093 single base substitution A G intron_variant MELA-AU 3 46015662 46015662 single base substitution G A intron_variant MELA-AU 3 46016475 46016475 single base substitution G A intron_variant MELA-AU 3 46016528 46016528 single base substitution C T intron_variant MELA-AU 3 46016567 46016567 single base substitution G A intron_variant MELA-AU 3 46017026 46017026 single base substitution G A intron_variant MELA-AU 3 46017865 46017865 single base substitution G T intron_variant MELA-AU 3 46017918 46017918 single base substitution G A intron_variant MELA-AU 3 46018306 46018306 single base substitution G A intron_variant MELA-AU 3 46018727 46018727 single base substitution G A intron_variant MELA-AU 3 46019672 46019672 single base substitution G A intron_variant MELA-AU 3 46019836 46019836 single base substitution G A intron_variant MELA-AU 3 46019899 46019899 single base substitution C T intron_variant MELA-AU 3 46020255 46020255 single base substitution G A intron_variant MELA-AU 3 46020483 46020483 single base substitution G A intron_variant MELA-AU 3 46020587 46020587 single base substitution C T intron_variant MELA-AU 3 46020700 46020700 single base substitution G A intron_variant MELA-AU 3 46021337 46021337 single base substitution G A downstream_gene_variant MELA-AU 3 46021337 46021337 single base substitution G A intron_variant MELA-AU 3 46021505 46021505 single base substitution A G downstream_gene_variant MELA-AU 3 46021505 46021505 single base substitution A G intron_variant MELA-AU 3 46022180 46022180 single base substitution G T downstream_gene_variant MELA-AU 3 46022180 46022180 single base substitution G T intron_variant MELA-AU 3 46023833 46023833 single base substitution G A downstream_gene_variant MELA-AU 3 46023833 46023833 single base substitution G A intron_variant MELA-AU 3 46024020 46024020 single base substitution G A downstream_gene_variant MELA-AU 3 46024020 46024020 single base substitution G A intron_variant MELA-AU 3 46024297 46024297 single base substitution G C downstream_gene_variant MELA-AU 3 46024297 46024297 single base substitution G C intron_variant MELA-AU 3 46024517 46024517 single base substitution G A downstream_gene_variant MELA-AU 3 46024517 46024517 single base substitution G A intron_variant MELA-AU 3 46024784 46024785 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 46024784 46024785 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 46025084 46025084 single base substitution G A downstream_gene_variant MELA-AU 3 46025084 46025084 single base substitution G A intron_variant MELA-AU 3 46025382 46025382 single base substitution G A downstream_gene_variant MELA-AU 3 46025382 46025382 single base substitution G A intron_variant MELA-AU 3 46025475 46025475 single base substitution G A downstream_gene_variant MELA-AU 3 46025475 46025475 single base substitution G A intron_variant MELA-AU 3 46026100 46026100 single base substitution G A exon_variant MELA-AU 3 46026100 46026100 single base substitution G A intron_variant MELA-AU 3 46026113 46026113 single base substitution G A exon_variant MELA-AU 3 46026113 46026113 single base substitution G A intron_variant MELA-AU 3 46027043 46027043 single base substitution A G intron_variant MELA-AU 3 46027043 46027043 single base substitution A G upstream_gene_variant MELA-AU 3 46027439 46027439 single base substitution G A intron_variant MELA-AU 3 46027439 46027439 single base substitution G A upstream_gene_variant MELA-AU 3 46028108 46028108 single base substitution C T intron_variant MELA-AU 3 46028108 46028108 single base substitution C T upstream_gene_variant MELA-AU 3 46028129 46028129 single base substitution G A intron_variant MELA-AU 3 46028129 46028129 single base substitution G A upstream_gene_variant MELA-AU 3 46028382 46028382 single base substitution C T intron_variant MELA-AU 3 46028382 46028382 single base substitution C T upstream_gene_variant MELA-AU 3 46029139 46029139 single base substitution G A intron_variant MELA-AU 3 46029139 46029139 single base substitution G A upstream_gene_variant MELA-AU 3 46029355 46029355 single base substitution G A intron_variant MELA-AU 3 46029355 46029355 single base substitution G A upstream_gene_variant MELA-AU 3 46029732 46029732 single base substitution G A intron_variant MELA-AU 3 46029732 46029732 single base substitution G A upstream_gene_variant MELA-AU 3 46030256 46030256 single base substitution G A intron_variant MELA-AU 3 46030256 46030256 single base substitution G A upstream_gene_variant MELA-AU 3 46030556 46030556 single base substitution G A intron_variant MELA-AU 3 46030556 46030556 single base substitution G A upstream_gene_variant MELA-AU 3 46030685 46030685 insertion of <=200bp - C intron_variant MELA-AU 3 46030685 46030685 insertion of <=200bp - C upstream_gene_variant MELA-AU 3 46031492 46031492 single base substitution G A intron_variant MELA-AU 3 46031831 46031831 single base substitution G A intron_variant MELA-AU 3 46032327 46032327 single base substitution G A intron_variant MELA-AU 3 46032399 46032399 single base substitution G A intron_variant MELA-AU 3 46032924 46032924 single base substitution G A intron_variant MELA-AU 3 46033956 46033956 single base substitution G A intron_variant MELA-AU 3 46034134 46034134 single base substitution G T intron_variant MELA-AU 3 46034526 46034526 single base substitution C T intron_variant MELA-AU 3 46034670 46034670 single base substitution G A intron_variant MELA-AU 3 46035399 46035399 single base substitution G A intron_variant MELA-AU 3 46038476 46038476 single base substitution T C upstream_gene_variant MELA-AU 3 46038557 46038557 single base substitution C T upstream_gene_variant MELA-AU 3 46038969 46038969 single base substitution C T upstream_gene_variant MELA-AU 3 46039003 46039003 single base substitution G A upstream_gene_variant MELA-AU 3 46039062 46039062 single base substitution G A upstream_gene_variant MELA-AU 3 46039389 46039389 single base substitution G A upstream_gene_variant MELA-AU 3 46039427 46039427 single base substitution T A upstream_gene_variant MELA-AU 3 46039617 46039617 single base substitution G A upstream_gene_variant MELA-AU 3 46039629 46039629 single base substitution G A upstream_gene_variant MELA-AU 3 46039671 46039671 single base substitution T C upstream_gene_variant MELA-AU 3 46039770 46039770 single base substitution C T upstream_gene_variant MELA-AU 3 46039777 46039777 single base substitution C T upstream_gene_variant MELA-AU 3 46040271 46040271 single base substitution C T upstream_gene_variant MELA-AU 3 46040280 46040280 single base substitution G A upstream_gene_variant MELA-AU 3 46040344 46040344 single base substitution C T upstream_gene_variant MELA-AU 3 46040528 46040528 single base substitution G A upstream_gene_variant MELA-AU 3 46040718 46040718 single base substitution G A upstream_gene_variant MELA-AU 3 46040988 46040988 single base substitution C T upstream_gene_variant MELA-AU 3 46041075 46041075 single base substitution C T upstream_gene_variant MELA-AU 3 46041674 46041674 single base substitution T G upstream_gene_variant MELA-AU 3 46041967 46041967 single base substitution C T upstream_gene_variant ORCA-IN 3 45965234 45965234 single base substitution G C missense_variant C1425W 4275C>G ORCA-IN 3 45965234 45965234 single base substitution G C missense_variant C1445W 4335C>G ORCA-IN 3 45965234 45965234 single base substitution G C missense_variant C213W 639C>G ORCA-IN 3 45965234 45965234 single base substitution G C missense_variant C96W 288C>G ORCA-IN 3 45990396 45990396 single base substitution G A intron_variant ORCA-IN 3 45999940 45999940 single base substitution C A 5_prime_UTR_variant ORCA-IN 3 45999940 45999940 single base substitution C A synonymous_variant L1253L 3759G>T ORCA-IN 3 45999940 45999940 single base substitution C A synonymous_variant L41L 123G>T ORCA-IN 3 46000893 46000893 single base substitution G T missense_variant H1193Q 3579C>A ORCA-IN 3 46000893 46000893 single base substitution G T upstream_gene_variant ORCA-IN 3 46000920 46000920 single base substitution C A synonymous_variant R1184R 3552G>T ORCA-IN 3 46000920 46000920 single base substitution C A upstream_gene_variant OV-AU 3 45956730 45956730 single base substitution A T downstream_gene_variant OV-AU 3 45965737 45965737 single base substitution G C intron_variant OV-AU 3 45971986 45971986 single base substitution C G intron_variant OV-AU 3 45979000 45979000 single base substitution C A intron_variant OV-AU 3 45981790 45981790 single base substitution C T intron_variant OV-AU 3 45987476 45987476 single base substitution T A intron_variant OV-AU 3 45992060 45992060 single base substitution C T intron_variant OV-AU 3 45997727 45997727 single base substitution C G intron_variant OV-AU 3 46005958 46005958 single base substitution C A intron_variant OV-AU 3 46011355 46011355 single base substitution C T intron_variant OV-AU 3 46015376 46015376 single base substitution C A intron_variant OV-AU 3 46024848 46024848 single base substitution G A downstream_gene_variant OV-AU 3 46024848 46024848 single base substitution G A intron_variant OV-AU 3 46039171 46039171 single base substitution C T upstream_gene_variant OV-AU 3 46040543 46040543 single base substitution G T upstream_gene_variant PACA-AU 3 45956938 45956938 single base substitution C A downstream_gene_variant PACA-AU 3 45961488 45961503 deletion of <=200bp CCAAGGAAGCCGAATG - 3_prime_UTR_variant PACA-AU 3 45961488 45961503 deletion of <=200bp CCAAGGAAGCCGAATG - downstream_gene_variant PACA-AU 3 45963398 45963398 single base substitution G A intron_variant PACA-AU 3 45963430 45963430 single base substitution C A intron_variant PACA-AU 3 45964589 45964589 single base substitution T C intron_variant PACA-AU 3 45965194 45965194 single base substitution G A missense_variant R110C 328C>T PACA-AU 3 45965194 45965194 single base substitution G A missense_variant R1439C 4315C>T PACA-AU 3 45965194 45965194 single base substitution G A missense_variant R1459C 4375C>T PACA-AU 3 45965194 45965194 single base substitution G A missense_variant R227C 679C>T PACA-AU 3 45970445 45970445 single base substitution C G intron_variant PACA-AU 3 45985937 45985937 single base substitution A G intron_variant PACA-AU 3 45988011 45988011 single base substitution G C intron_variant PACA-AU 3 45993356 45993356 single base substitution C A intron_variant PACA-AU 3 45997830 45997830 insertion of <=200bp - AAAT intron_variant PACA-AU 3 46004977 46004977 single base substitution T A intron_variant PACA-AU 3 46004977 46004977 single base substitution T A upstream_gene_variant PACA-AU 3 46005807 46005807 single base substitution C T intron_variant PACA-AU 3 46009163 46009163 single base substitution G A missense_variant R555W 1663C>T PACA-AU 3 46011347 46011347 single base substitution G T intron_variant PACA-AU 3 46018629 46018629 single base substitution T C intron_variant PACA-AU 3 46023669 46023669 single base substitution T C downstream_gene_variant PACA-AU 3 46023669 46023669 single base substitution T C intron_variant PACA-AU 3 46030028 46030028 single base substitution A T intron_variant PACA-AU 3 46030028 46030028 single base substitution A T upstream_gene_variant PACA-AU 3 46034351 46034351 single base substitution C T intron_variant PACA-AU 3 46039200 46039200 single base substitution C T upstream_gene_variant PACA-AU 3 46040180 46040180 single base substitution A T upstream_gene_variant PACA-AU 3 46041624 46041624 single base substitution G T upstream_gene_variant PACA-CA 3 45955056 45955056 single base substitution T A downstream_gene_variant PACA-CA 3 45955057 45955057 single base substitution C A downstream_gene_variant PACA-CA 3 45955289 45955289 single base substitution C T downstream_gene_variant PACA-CA 3 45956681 45956681 single base substitution C T downstream_gene_variant PACA-CA 3 45958999 45958999 single base substitution T C downstream_gene_variant PACA-CA 3 45962103 45962103 single base substitution C T 3_prime_UTR_variant PACA-CA 3 45962103 45962103 single base substitution C T downstream_gene_variant PACA-CA 3 45969615 45969615 deletion of <=200bp T - intron_variant PACA-CA 3 45979170 45979170 single base substitution G A intron_variant PACA-CA 3 45984007 45984007 single base substitution G A intron_variant PACA-CA 3 45985760 45985760 single base substitution C T intron_variant PACA-CA 3 45989656 45989656 single base substitution T C intron_variant PACA-CA 3 45992747 45992747 single base substitution C T intron_variant PACA-CA 3 45994144 45994144 single base substitution T C intron_variant PACA-CA 3 45996167 45996167 single base substitution G A intron_variant PACA-CA 3 45997082 45997082 single base substitution A C intron_variant PACA-CA 3 46000965 46000965 single base substitution T C synonymous_variant R1169R 3507A>G PACA-CA 3 46000965 46000965 single base substitution T C upstream_gene_variant PACA-CA 3 46002073 46002074 deletion of <=200bp CT - intron_variant PACA-CA 3 46002073 46002074 deletion of <=200bp CT - upstream_gene_variant PACA-CA 3 46009894 46009894 single base substitution G A missense_variant T311I 932C>T PACA-CA 3 46010093 46010093 single base substitution G A missense_variant R245W 733C>T PACA-CA 3 46010307 46010307 single base substitution C T intron_variant PACA-CA 3 46011372 46011372 single base substitution A G intron_variant PACA-CA 3 46013688 46013688 single base substitution C T intron_variant PACA-CA 3 46017167 46017167 single base substitution C G intron_variant PACA-CA 3 46026532 46026532 single base substitution A G intron_variant PACA-CA 3 46026532 46026532 single base substitution A G upstream_gene_variant PACA-CA 3 46027952 46027952 single base substitution T C intron_variant PACA-CA 3 46027952 46027952 single base substitution T C upstream_gene_variant PACA-CA 3 46030151 46030151 single base substitution C T intron_variant PACA-CA 3 46030151 46030151 single base substitution C T upstream_gene_variant PACA-CA 3 46030995 46030995 single base substitution C T intron_variant PACA-CA 3 46030995 46030995 single base substitution C T upstream_gene_variant PACA-CA 3 46032919 46032919 single base substitution G A intron_variant PACA-CA 3 46033931 46033931 single base substitution G C intron_variant PACA-CA 3 46035419 46035419 single base substitution G A intron_variant PACA-CA 3 46039108 46039108 single base substitution G T upstream_gene_variant PACA-CA 3 46040915 46040915 single base substitution C T upstream_gene_variant PAEN-AU 3 45979304 45979304 single base substitution A C intron_variant PAEN-AU 3 45988025 45988025 single base substitution A C intron_variant PAEN-AU 3 45997692 45997692 single base substitution G A intron_variant PAEN-AU 3 46020335 46020335 single base substitution G A intron_variant PAEN-IT 3 45995274 45995274 single base substitution T C intron_variant PBCA-DE 3 45961075 45961075 single base substitution G T 3_prime_UTR_variant PBCA-DE 3 45961075 45961075 single base substitution G T downstream_gene_variant PBCA-DE 3 45988338 45988338 single base substitution G A intron_variant PBCA-DE 3 46019358 46019358 single base substitution G A intron_variant PBCA-DE 3 46026585 46026585 single base substitution C A intron_variant PBCA-DE 3 46026585 46026585 single base substitution C A upstream_gene_variant PBCA-DE 3 46030672 46030672 single base substitution C G intron_variant PBCA-DE 3 46030672 46030672 single base substitution C G upstream_gene_variant PBCA-DE 3 46036233 46036233 single base substitution G C intron_variant PBCA-DE 3 46039359 46039359 single base substitution G A upstream_gene_variant PRAD-CA 3 45985756 45985756 single base substitution G T intron_variant PRAD-CA 3 45998212 45998212 single base substitution C A intron_variant PRAD-CA 3 46030364 46030364 single base substitution G T intron_variant PRAD-CA 3 46030364 46030364 single base substitution G T upstream_gene_variant PRAD-UK 3 45974647 45974647 single base substitution T C intron_variant PRAD-UK 3 45991320 45991320 single base substitution C T intron_variant PRAD-UK 3 45994658 45994658 single base substitution G A intron_variant PRAD-UK 3 46036879 46036879 single base substitution A C intron_variant PRAD-UK 3 46040471 46040471 single base substitution G A upstream_gene_variant PRAD-US 3 45988802 45988802 single base substitution G A intron_variant PRAD-US 3 46021201 46021201 single base substitution G A downstream_gene_variant PRAD-US 3 46021201 46021201 single base substitution G A missense_variant S95L 284C>T RECA-EU 3 45962570 45962570 single base substitution A G 3_prime_UTR_variant RECA-EU 3 45962570 45962570 single base substitution A G downstream_gene_variant RECA-EU 3 45993962 45993962 single base substitution G A intron_variant RECA-EU 3 45999525 45999525 single base substitution G A intron_variant RECA-EU 3 46000373 46000373 single base substitution T C intron_variant RECA-EU 3 46000373 46000373 single base substitution T C upstream_gene_variant RECA-EU 3 46039153 46039153 single base substitution G A upstream_gene_variant SKCA-BR 3 45957062 45957062 single base substitution G A downstream_gene_variant SKCA-BR 3 45958155 45958155 single base substitution G C downstream_gene_variant SKCA-BR 3 45960561 45960561 insertion of <=200bp - TAA 3_prime_UTR_variant SKCA-BR 3 45960561 45960561 insertion of <=200bp - TAA downstream_gene_variant SKCA-BR 3 45960561 45960561 insertion of <=200bp - TAA intron_variant SKCA-BR 3 45960562 45960562 single base substitution T A 3_prime_UTR_variant SKCA-BR 3 45960562 45960562 single base substitution T A downstream_gene_variant SKCA-BR 3 45960562 45960562 single base substitution T A intron_variant SKCA-BR 3 45960851 45960851 single base substitution C T 3_prime_UTR_variant SKCA-BR 3 45960851 45960851 single base substitution C T downstream_gene_variant SKCA-BR 3 45960851 45960851 single base substitution C T intron_variant SKCA-BR 3 45961551 45961551 single base substitution C T 3_prime_UTR_variant SKCA-BR 3 45961551 45961551 single base substitution C T downstream_gene_variant SKCA-BR 3 45963089 45963089 single base substitution T G 3_prime_UTR_variant SKCA-BR 3 45963089 45963089 single base substitution T G downstream_gene_variant SKCA-BR 3 45984937 45984937 single base substitution T A intron_variant SKCA-BR 3 45988268 45988268 single base substitution C A intron_variant SKCA-BR 3 45989921 45989921 single base substitution G T intron_variant SKCA-BR 3 45991594 45991594 single base substitution C A intron_variant SKCA-BR 3 45991995 45991995 single base substitution G A intron_variant SKCA-BR 3 45993219 45993219 single base substitution G A intron_variant SKCA-BR 3 45996583 45996583 single base substitution G A intron_variant SKCA-BR 3 46006017 46006017 single base substitution T G intron_variant SKCA-BR 3 46009122 46009122 single base substitution A C synonymous_variant G568G 1704T>G SKCA-BR 3 46010857 46010857 single base substitution T C intron_variant SKCA-BR 3 46011383 46011383 single base substitution T C intron_variant SKCA-BR 3 46012888 46012888 single base substitution G A intron_variant SKCA-BR 3 46013531 46013531 single base substitution G A intron_variant SKCA-BR 3 46016307 46016307 single base substitution C T intron_variant SKCA-BR 3 46019497 46019497 single base substitution G C intron_variant SKCA-BR 3 46021138 46021138 single base substitution G A downstream_gene_variant SKCA-BR 3 46021138 46021138 single base substitution G A intron_variant SKCA-BR 3 46021337 46021337 single base substitution G A downstream_gene_variant SKCA-BR 3 46021337 46021337 single base substitution G A intron_variant SKCA-BR 3 46021870 46021870 single base substitution G A downstream_gene_variant SKCA-BR 3 46021870 46021870 single base substitution G A intron_variant SKCA-BR 3 46022339 46022339 single base substitution A C downstream_gene_variant SKCA-BR 3 46022339 46022339 single base substitution A C intron_variant SKCA-BR 3 46024666 46024666 single base substitution G T downstream_gene_variant SKCA-BR 3 46024666 46024666 single base substitution G T intron_variant SKCA-BR 3 46031209 46031209 single base substitution T C intron_variant SKCA-BR 3 46031209 46031209 single base substitution T C upstream_gene_variant SKCA-BR 3 46035097 46035097 single base substitution A G intron_variant SKCA-BR 3 46036151 46036151 single base substitution C A intron_variant SKCA-BR 3 46036543 46036543 single base substitution G C intron_variant SKCA-BR 3 46038866 46038866 single base substitution G A upstream_gene_variant SKCA-BR 3 46039429 46039429 single base substitution C T upstream_gene_variant SKCM-US 3 45972760 45972760 single base substitution G A missense_variant L1352F 4054C>T SKCM-US 3 45972760 45972760 single base substitution G A missense_variant L1372F 4114C>T SKCM-US 3 45972760 45972760 single base substitution G A missense_variant L140F 418C>T SKCM-US 3 45972760 45972760 single base substitution G A missense_variant L23F 67C>T SKCM-US 3 45988186 45988186 single base substitution G A intron_variant SKCM-US 3 45988228 45988228 single base substitution C T intron_variant SKCM-US 3 45988292 45988292 single base substitution G A intron_variant SKCM-US 3 45988619 45988620 deletion of <=200bp AA - intron_variant SKCM-US 3 45988648 45988648 single base substitution G A intron_variant SKCM-US 3 46001021 46001021 single base substitution G A missense_variant L1151F 3451C>T SKCM-US 3 46001021 46001021 single base substitution G A upstream_gene_variant SKCM-US 3 46003793 46003793 single base substitution G T missense_variant Q1121K 3361C>A SKCM-US 3 46003793 46003793 single base substitution G T upstream_gene_variant SKCM-US 3 46008470 46008470 single base substitution G A stop_gained Q786* 2356C>T SKCM-US 3 46008477 46008477 single base substitution C T synonymous_variant G783G 2349G>A SKCM-US 3 46008746 46008746 single base substitution G A stop_gained Q694* 2080C>T SKCM-US 3 46009090 46009090 single base substitution G A missense_variant S579F 1736C>T SKCM-US 3 46009314 46009314 single base substitution C T synonymous_variant L504L 1512G>A SKCM-US 3 46009380 46009380 single base substitution G A synonymous_variant S482S 1446C>T SKCM-US 3 46009409 46009409 single base substitution G A synonymous_variant L473L 1417C>T SKCM-US 3 46009500 46009500 single base substitution C T synonymous_variant R442R 1326G>A SKCM-US 3 46009752 46009752 single base substitution C T synonymous_variant L358L 1074G>A SKCM-US 3 46009799 46009799 single base substitution T C missense_variant M343V 1027A>G SKCM-US 3 46009867 46009867 single base substitution T A missense_variant Q320L 959A>T SKCM-US 3 46011172 46011172 single base substitution G A synonymous_variant L209L 625C>T SKCM-US 3 46014621 46014621 single base substitution C T synonymous_variant S166S 498G>A SKCM-US 3 46014622 46014622 single base substitution G A missense_variant S166L 497C>T SKCM-US 3 46021202 46021202 single base substitution A C downstream_gene_variant SKCM-US 3 46021202 46021202 single base substitution A C missense_variant S95A 283T>G SKCM-US 3 46023068 46023068 single base substitution G A downstream_gene_variant SKCM-US 3 46023068 46023068 single base substitution G A synonymous_variant L52L 156C>T SKCM-US 3 46023136 46023136 single base substitution C T downstream_gene_variant SKCM-US 3 46023136 46023136 single base substitution C T missense_variant E30K 88G>A STAD-US 3 45965194 45965194 single base substitution G A missense_variant R110C 328C>T STAD-US 3 45965194 45965194 single base substitution G A missense_variant R1439C 4315C>T STAD-US 3 45965194 45965194 single base substitution G A missense_variant R1459C 4375C>T STAD-US 3 45965194 45965194 single base substitution G A missense_variant R227C 679C>T STAD-US 3 45965219 45965221 deletion of <=200bp CTC - inframe_deletion E101 STAD-US 3 45965219 45965221 deletion of <=200bp CTC - inframe_deletion E1430 STAD-US 3 45965219 45965221 deletion of <=200bp CTC - inframe_deletion E1450 STAD-US 3 45965219 45965221 deletion of <=200bp CTC - inframe_deletion E218 STAD-US 3 45972594 45972594 single base substitution T C missense_variant E1407G 4220A>G STAD-US 3 45972594 45972594 single base substitution T C missense_variant E1427G 4280A>G STAD-US 3 45972594 45972594 single base substitution T C missense_variant E195G 584A>G STAD-US 3 45972594 45972594 single base substitution T C missense_variant E78G 233A>G STAD-US 3 45988319 45988319 single base substitution T C intron_variant STAD-US 3 45988802 45988802 single base substitution G A intron_variant STAD-US 3 46000895 46000895 single base substitution G A missense_variant H1193Y 3577C>T STAD-US 3 46000895 46000895 single base substitution G A upstream_gene_variant STAD-US 3 46005857 46005857 single base substitution C A missense_variant E1080D 3240G>T STAD-US 3 46008021 46008021 single base substitution G A synonymous_variant D935D 2805C>T STAD-US 3 46008259 46008259 single base substitution T C missense_variant Q856R 2567A>G STAD-US 3 46008705 46008705 single base substitution G A synonymous_variant G707G 2121C>T STAD-US 3 46008779 46008779 single base substitution C G missense_variant A683P 2047G>C STAD-US 3 46009009 46009009 single base substitution T C missense_variant Q606R 1817A>G STAD-US 3 46009038 46009038 single base substitution C A missense_variant Q596H 1788G>T STAD-US 3 46009092 46009092 single base substitution G C missense_variant N578K 1734C>G STAD-US 3 46009351 46009351 single base substitution C T missense_variant R492Q 1475G>A STAD-US 3 46009504 46009504 single base substitution G A missense_variant A441V 1322C>T STAD-US 3 46009957 46009957 single base substitution C T missense_variant R290H 869G>A STAD-US 3 46011206 46011206 single base substitution G T synonymous_variant R197R 591C>A STAD-US 3 46014624 46014624 single base substitution C T synonymous_variant A165A 495G>A STAD-US 3 46016798 46016798 single base substitution A G missense_variant Y110H 328T>C THCA-SA 3 45959759 45959759 single base substitution T C 3_prime_UTR_variant THCA-SA 3 45959759 45959759 single base substitution T C downstream_gene_variant THCA-SA 3 45962595 45962595 single base substitution C G 3_prime_UTR_variant THCA-SA 3 45962595 45962595 single base substitution C G downstream_gene_variant THCA-SA 3 45962942 45962942 single base substitution C T 3_prime_UTR_variant THCA-SA 3 45962942 45962942 single base substitution C T downstream_gene_variant THCA-SA 3 45988362 45988362 single base substitution T C intron_variant THCA-SA 3 46008790 46008790 single base substitution G A missense_variant A679V 2036C>T UCEC-US 3 45963310 45963310 single base substitution A G missense_variant Y133H 397T>C UCEC-US 3 45963310 45963310 single base substitution A G missense_variant Y1462H 4384T>C UCEC-US 3 45963310 45963310 single base substitution A G missense_variant Y1482H 4444T>C UCEC-US 3 45963310 45963310 single base substitution A G missense_variant Y250H 748T>C UCEC-US 3 45965194 45965194 single base substitution G A missense_variant R110C 328C>T UCEC-US 3 45965194 45965194 single base substitution G A missense_variant R1439C 4315C>T UCEC-US 3 45965194 45965194 single base substitution G A missense_variant R1459C 4375C>T UCEC-US 3 45965194 45965194 single base substitution G A missense_variant R227C 679C>T UCEC-US 3 45972590 45972590 single base substitution G A synonymous_variant A1408A 4224C>T UCEC-US 3 45972590 45972590 single base substitution G A synonymous_variant A1428A 4284C>T UCEC-US 3 45972590 45972590 single base substitution G A synonymous_variant A196A 588C>T UCEC-US 3 45972590 45972590 single base substitution G A synonymous_variant A79A 237C>T UCEC-US 3 45988223 45988223 single base substitution C T intron_variant UCEC-US 3 45988384 45988384 single base substitution C T intron_variant UCEC-US 3 45988860 45988860 single base substitution G A intron_variant UCEC-US 3 45996853 45996853 single base substitution C T 5_prime_UTR_variant UCEC-US 3 45996853 45996853 single base substitution C T missense_variant A1278T 3832G>A UCEC-US 3 45996853 45996853 single base substitution C T missense_variant A66T 196G>A UCEC-US 3 46000898 46000898 single base substitution G A missense_variant R1192W 3574C>T UCEC-US 3 46000898 46000898 single base substitution G A upstream_gene_variant UCEC-US 3 46000922 46000922 single base substitution G A missense_variant R1184W 3550C>T UCEC-US 3 46000922 46000922 single base substitution G A upstream_gene_variant UCEC-US 3 46003808 46003808 single base substitution G A missense_variant R1116C 3346C>T UCEC-US 3 46003808 46003808 single base substitution G A upstream_gene_variant UCEC-US 3 46003869 46003869 single base substitution G A synonymous_variant L1095L 3285C>T UCEC-US 3 46003869 46003869 single base substitution G A upstream_gene_variant UCEC-US 3 46005881 46005881 single base substitution C T synonymous_variant A1072A 3216G>A UCEC-US 3 46005882 46005882 single base substitution G A missense_variant A1072V 3215C>T UCEC-US 3 46007819 46007819 single base substitution G T missense_variant L1003I 3007C>A UCEC-US 3 46007964 46007964 single base substitution C T synonymous_variant L954L 2862G>A UCEC-US 3 46008045 46008045 single base substitution G T synonymous_variant A927A 2781C>A UCEC-US 3 46008280 46008280 single base substitution G A missense_variant S849L 2546C>T UCEC-US 3 46008751 46008751 single base substitution T C missense_variant K692R 2075A>G UCEC-US 3 46008782 46008782 single base substitution G A synonymous_variant L682L 2044C>T UCEC-US 3 46009415 46009415 single base substitution G A stop_gained R471* 1411C>T UCEC-US 3 46009535 46009535 single base substitution G T missense_variant L431M 1291C>A UCEC-US 3 46010119 46010119 single base substitution C T missense_variant R236Q 707G>A UCEC-US 3 46011226 46011226 single base substitution G T missense_variant L191M 571C>A UCEC-US 3 46014692 46014692 single base substitution G A stop_gained Q143* 427C>T UCEC-US 3 46016748 46016748 single base substitution C A missense_variant M126I 378G>T UCEC-US 3 46016789 46016789 single base substitution C A missense_variant V113L 337G>T UCEC-US 3 46023064 46023064 single base substitution G T downstream_gene_variant UCEC-US 3 46023064 46023064 single base substitution G T missense_variant Q54K 160C>A UCEC-US 3 46023093 46023093 single base substitution T G downstream_gene_variant UCEC-US 3 46023093 46023093 single base substitution T G missense_variant K44T 131A>C UCEC-US 3 46026399 46026399 single base substitution C G exon_variant UCEC-US 3 46026399 46026399 single base substitution C G missense_variant A2P 4G>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CHEWS036 COSM4584386 c.107C>T p.T36M Substitution - Missense 3:45981625-45981625 - CSCC-27-T COSM4488856 c.3399C>T p.T1133T Substitution - coding silent 3:45962263-45962263 - SNUH_G10_S1 COSM3760118 c.1335G>A p.L445L Substitution - coding silent 3:45967999-45967999 - OSCC-GB_00620111 COSM4881337 c.3552G>T p.R1184R Substitution - coding silent 3:45959428-45959428 - SNUH_G09_S1 COSM3683126 c.2523T>G p.H841Q Substitution - Missense 3:45966811-45966811 - TCGA-AA-3715-01 COSM269212 c.1415G>A p.R472Q Substitution - Missense 3:45967919-45967919 - TCGA-BH-A0HF-01 COSM3823959 c.2112C>T p.S704S Substitution - coding silent 3:45967222-45967222 - TCGA-B5-A11N-01 COSM1045225 c.2546C>T p.S849L Substitution - Missense 3:45966788-45966788 - TCGA-D5-6930-01 COSM1423343 c.4081G>A p.G1361R Substitution - Missense 3:45931241-45931241 - TCGA-CA-6719-01 COSM1423344 c.3994G>A p.V1332M Substitution - Missense 3:45936494-45936494 - TCGA-FW-A3R5-06 COSM3916115 c.156C>T p.L52L Substitution - coding silent 3:45981576-45981576 - RMS109_ COSM3067908 c.2272C>T p.P758S Substitution - Missense 3:45967062-45967062 - PD3904a COSM219189 c.682G>A p.A228T Substitution - Missense 3:45968652-45968652 - OSCC-GB_00940111 COSM4891600 c.3759G>T p.L1253L Substitution - coding silent 3:45958448-45958448 - TCGA-AO-A03N-01 COSM446570 c.3021G>C p.L1007L Substitution - coding silent 3:45966313-45966313 - LUAD-LIP77 COSM342466 c.2229G>A p.L743L Substitution - coding silent 3:45967105-45967105 - S00501 COSM311322 c.3438-2A>G p.? Unknown 3:45959544-45959544 - TCGA-B5-A0JY-01 COSM1045237 c.160C>A p.Q54K Substitution - Missense 3:45981572-45981572 - TCGA-BR-8078-01 COSM4117848 c.495G>A p.A165A Substitution - coding silent 3:45973132-45973132 - TCGA-AZ-6598-01 COSM1423349 c.1749G>T p.E583D Substitution - Missense 3:45967585-45967585 - TCGA-BR-6452-01 COSM4117841 c.2047G>C p.A683P Substitution - Missense 3:45967287-45967287 - CSCC-27-T COSM226075 c.325C>T p.R109C Substitution - Missense 3:45975309-45975309 - PD3904a COSM219189 c.682G>A p.A228T Substitution - Missense 3:45968652-45968652 - TCGA-BR-8078-01 COSM4117847 c.591C>A p.R197R Substitution - coding silent 3:45969714-45969714 - TCGA-D1-A163-01 COSM1045227 c.2044C>T p.L682L Substitution - coding silent 3:45967290-45967290 - MO_1084 COSM4411266 c.2200G>A p.E734K Substitution - Missense 3:45967134-45967134 - I2L-P20-Tumor-Biopsy COSM1045211 c.4224C>T p.A1408A Substitution - coding silent 3:45931098-45931098 - SC_9100 COSM5553954 c.3839T>G p.F1280C Substitution - Missense 3:45955354-45955354 - S02296 COSM5689541 c.1050G>T p.E350D Substitution - Missense 3:45968284-45968284 - CACO2 COSM3067912 c.2191A>T p.R731W Substitution - Missense 3:45967143-45967143 - TCGA-D8-A1JA-01 COSM3823960 c.655G>C p.D219H Substitution - Missense 3:45968679-45968679 - PTC-7C COSM4158058 c.2739C>T p.C913C Substitution - coding silent 3:45966595-45966595 - TCGA-HT-7693-01 COSM3974429 c.56-2A>G p.? Unknown 3:45981678-45981678 - TCGA-BG-A0LX-01 COSM1045226 c.2075A>G p.K692R Substitution - Missense 3:45967259-45967259 - PT34 COSM5910370 c.2569G>A p.E857K Substitution - Missense 3:45966765-45966765 - TCGA-33-4586-01 COSM730766 c.734G>T p.R245L Substitution - Missense 3:45968600-45968600 - RK261_C02 COSM4943962 c.3944+8G>C p.? Unknown 3:45955241-45955241 - ATL035 COSM5708750 c.4195A>T p.I1399F Substitution - Missense 3:45931127-45931127 - BHY COSM4158059 c.1669G>T p.A557S Substitution - Missense 3:45967665-45967665 - TCGA-BR-6566-01 COSM4117842 c.1817A>G p.Q606R Substitution - Missense 3:45967517-45967517 - TCGA-BR-4184-01 COSM4117846 c.869G>A p.R290H Substitution - Missense 3:45968465-45968465 - LUAD-B01970 COSM356138 c.1683C>G p.G561G Substitution - coding silent 3:45967651-45967651 - CSCC-37-T COSM3067954 c.9C>T p.S3S Substitution - coding silent 3:45984902-45984902 - LUAD-B01970 COSM356137 c.3310G>C p.E1104Q Substitution - Missense 3:45962352-45962352 - YUDON COSM5399425 c.1725C>T p.V575V Substitution - coding silent 3:45967609-45967609 - S02242 COSM5677371 c.1013G>C p.R338P Substitution - Missense 3:45968321-45968321 - Sample_1 COSM5021391 c.4161C>A p.T1387T Substitution - coding silent 3:45931161-45931161 - TCGA-ER-A193-06 COSM3594425 c.2356C>T p.Q786* Substitution - Nonsense 3:45966978-45966978 - TCGA-EK-A3GK-01 COSM4853608 c.1837G>A p.E613K Substitution - Missense 3:45967497-45967497 - TCGA-CM-6168-01 COSM1423356 c.393C>T p.T131T Substitution - coding silent 3:45975241-45975241 - CRC-06T COSM5457050 c.2749G>A p.V917M Substitution - Missense 3:45966585-45966585 - ME024T COSM226073 c.1435C>T p.H479Y Substitution - Missense 3:45967899-45967899 - TCGA-B5-A11E-01 COSM1045221 c.3215C>T p.A1072V Substitution - Missense 3:45964390-45964390 - WSU-HN6 COSM4158059 c.1669G>T p.A557S Substitution - Missense 3:45967665-45967665 - TCGA-D1-A0ZO-01 COSM1045235 c.337G>T p.V113L Substitution - Missense 3:45975297-45975297 - HCC107T COSM5813494 c.464A>T p.Y155F Substitution - Missense 3:45973163-45973163 - YUROG COSM5399426 c.438G>A p.L146L Substitution - coding silent 3:45973189-45973189 - ME024T COSM226075 c.325C>T p.R109C Substitution - Missense 3:45975309-45975309 - TCGA-EB-A5UN-06 COSM3594426 c.2349G>A p.G783G Substitution - coding silent 3:45966985-45966985 - TCGA-CD-A487-01 COSM4117849 c.328T>C p.Y110H Substitution - Missense 3:45975306-45975306 - T2944 COSM4685929 c.4227G>A p.E1409E Substitution - coding silent 3:45931095-45931095 - I2L-P19Ta-Tumor-Biopsy COSM5355222 c.1938C>A p.Y646* Substitution - Nonsense 3:45967396-45967396 - TCGA-A8-A08B-01 COSM446572 c.2745G>A p.L915L Substitution - coding silent 3:45966589-45966589 - TCGA-DK-A1AD-01 COSM1309165 c.3079A>T p.S1027C Substitution - Missense 3:45965104-45965104 - Pat_28_B COSM5864588 c.2156G>A p.C719Y Substitution - Missense 3:45967178-45967178 - ESCC-015T COSM3067856 c.4426G>A p.D1476N Substitution - Missense 3:45921776-45921776 - BN50T COSM1617648 c.4199C>T p.S1400F Substitution - Missense 3:45931123-45931123 - TCGA-AD-6964-01 COSM1423342 c.4205G>A p.S1402N Substitution - Missense 3:45931117-45931117 - UD-SCC-2 COSM4158059 c.1669G>T p.A557S Substitution - Missense 3:45967665-45967665 - LUAD-YINHD COSM350874 c.314G>C p.R105T Substitution - Missense 3:45975320-45975320 - TCGA-A8-A07C-01 COSM446575 c.222C>A p.F74L Substitution - Missense 3:45979771-45979771 - TCGA-CA-6717-01 COSM1423353 c.755G>A p.R252H Substitution - Missense 3:45968579-45968579 - TCGA-BR-8591-01 COSM4117840 c.2567A>G p.Q856R Substitution - Missense 3:45966767-45966767 - TCGA-AA-A010-01 COSM281267 c.3829G>A p.D1277N Substitution - Missense 3:45955364-45955364 - CRC-15T COSM4158059 c.1669G>T p.A557S Substitution - Missense 3:45967665-45967665 - S00833 COSM311323 c.166G>C p.D56H Substitution - Missense 3:45979827-45979827 - 3206A7_009_T COSM5039055 c.455G>T p.G152V Substitution - Missense 3:45973172-45973172 - 93VU147T COSM4158059 c.1669G>T p.A557S Substitution - Missense 3:45967665-45967665 - I2L-P19Ta-Tumor-Organoid COSM5355222 c.1938C>A p.Y646* Substitution - Nonsense 3:45967396-45967396 - TCGA-CG-5728-01 COSM3067914 c.2121C>T p.G707G Substitution - coding silent 3:45967213-45967213 - SA217 COSM214045 c.3412G>T p.E1138* Substitution - Nonsense 3:45962250-45962250 - 587224 COSM1207694 c.3461A>C p.K1154T Substitution - Missense 3:45959519-45959519 - TCGA-CC-A3MA-01 COSM4942742 c.287A>G p.E96G Substitution - Missense 3:45979706-45979706 - 587222 COSM1207695 c.2900C>T p.A967V Substitution - Missense 3:45966434-45966434 - C391 COSM4441759 c.2099C>T p.A700V Substitution - Missense 3:45967235-45967235 - TCGA-D3-A2JH-06 COSM3594433 c.1074G>A p.L358L Substitution - coding silent 3:45968260-45968260 - TCGA-BS-A0UV-01 COSM1045210 c.4315C>T p.R1439C Substitution - Missense 3:45923702-45923702 - CHC1531T COSM4804763 c.2337A>T p.E779D Substitution - Missense 3:45966997-45966997 - TCGA-BR-A4IY-01 COSM4117844 c.1734C>G p.N578K Substitution - Missense 3:45967600-45967600 - TCGA-AY-6197-01 COSM1423355 c.602T>C p.M201T Substitution - Missense 3:45969703-45969703 - 8035591 COSM3392422 c.1663C>T p.R555W Substitution - Missense 3:45967671-45967671 - Pat_63_A COSM5864587 c.2170G>A p.E724K Substitution - Missense 3:45967164-45967164 - SJHGG069_A COSM4969828 c.4394C>T p.T1465M Substitution - Missense 3:45921808-45921808 - TCGA-AP-A059-01 COSM1045224 c.2781C>A p.A927A Substitution - coding silent 3:45966553-45966553 - TCGA-AP-A056-01 COSM1045218 c.3346C>T p.R1116C Substitution - Missense 3:45962316-45962316 - TCGA-HU-A4GQ-01 COSM3067932 c.1322C>T p.A441V Substitution - Missense 3:45968012-45968012 - SNUH_G45_S1 COSM3760118 c.1335G>A p.L445L Substitution - coding silent 3:45967999-45967999 - TCGA-EB-A5UM-01 COSM3594423 c.3451C>T p.L1151F Substitution - Missense 3:45959529-45959529 - HCC107T COSM1617649 c.1885G>A p.V629I Substitution - Missense 3:45967449-45967449 - ESCC_158 COSM5646834 c.3597C>T p.G1199G Substitution - coding silent 3:45958610-45958610 - TCGA-B5-A11E-01 COSM1045223 c.2862G>A p.L954L Substitution - coding silent 3:45966472-45966472 - TCGA-EK-A2RA-01 COSM4848290 c.2797C>A p.L933I Substitution - Missense 3:45966537-45966537 - SNU-175 COSM3067899 c.2962C>T p.R988W Substitution - Missense 3:45966372-45966372 - DLD1 COSM4625094 c.3424A>G p.I1142V Substitution - Missense 3:45962238-45962238 - 587332 COSM1207696 c.1324C>T p.R442W Substitution - Missense 3:45968010-45968010 - KYSE-150 COSM3067896 c.3045G>A p.Q1015Q Substitution - coding silent 3:45966289-45966289 - sysucc-1370T COSM1045219 c.3285C>T p.L1095L Substitution - coding silent 3:45962377-45962377 - TCGA-G7-6792-01 COSM3993093 c.2002G>A p.A668T Substitution - Missense 3:45967332-45967332 - CRC-07T COSM5452069 c.1118C>A p.A373D Substitution - Missense 3:45968216-45968216 - 8804_PT COSM5756282 c.499A>G p.R167G Substitution - Missense 3:45973128-45973128 - T3225 COSM4685934 c.865G>A p.V289I Substitution - Missense 3:45968469-45968469 - HCT15 COSM3067931 c.1338G>A p.E446E Substitution - coding silent 3:45967996-45967996 - U2940 COSM5620852 c.2815G>C p.A939P Substitution - Missense 3:45966519-45966519 - TCGA-BP-4352-01 COSM3365191 c.3440A>G p.D1147G Substitution - Missense 3:45959540-45959540 - TCGA-AP-A059-01 COSM1045229 c.1291C>A p.L431M Substitution - Missense 3:45968043-45968043 - 2497774 COSM5750592 c.3335A>T p.E1112V Substitution - Missense 3:45962327-45962327 - pfg282T COSM4754263 c.2359C>T p.R787W Substitution - Missense 3:45966975-45966975 - pfg019T COSM1642277 c.1782C>T p.G594G Substitution - coding silent 3:45967552-45967552 - T578 COSM4685936 c.79G>T p.E27* Substitution - Nonsense 3:45981653-45981653 - T3225 COSM4685935 c.844C>T p.R282C Substitution - Missense 3:45968490-45968490 - T3225 COSM4685932 c.2552G>A p.R851H Substitution - Missense 3:45966782-45966782 - Br27P COSM40119 c.887C>T p.A296V Substitution - Missense 3:45968447-45968447 - UM-SCC-2 COSM4158059 c.1669G>T p.A557S Substitution - Missense 3:45967665-45967665 - BICR_22 COSM4158059 c.1669G>T p.A557S Substitution - Missense 3:45967665-45967665 - T1764 COSM4685933 c.1914G>A p.K638K Substitution - coding silent 3:45967420-45967420 - TCGA-A5-A0GH-01 COSM1045230 c.1163G>A p.R388Q Substitution - Missense 3:45968171-45968171 - PD4602a COSM161184 c.1142C>G p.T381R Substitution - Missense 3:45968192-45968192 - TCGA-EE-A181-06 COSM3594435 c.959A>T p.Q320L Substitution - Missense 3:45968375-45968375 - CHC205T COSM3760117 c.2036C>T p.A679V Substitution - Missense 3:45967298-45967298 - TCGA-A5-A0VQ-01 COSM1045222 c.3007C>A p.L1003I Substitution - Missense 3:45966327-45966327 - SC_9094 COSM5553117 c.69A>G p.E23E Substitution - coding silent 3:45981663-45981663 - PTC-6C COSM4158059 c.1669G>T p.A557S Substitution - Missense 3:45967665-45967665 - TCGA-BR-6452-01 COSM4117839 c.3240G>T p.E1080D Substitution - Missense 3:45964365-45964365 - TCGA-D9-A6EC-06 COSM4405003 c.283T>G p.S95A Substitution - Missense 3:45979710-45979710 - TCGA-D1-A17D-01 COSM1045217 c.3550C>T p.R1184W Substitution - Missense 3:45959430-45959430 - TCGA-A6-6653-01 COSM1423354 c.748C>T p.R250W Substitution - Missense 3:45968586-45968586 - PT08_1 COSM5892874 c.1254G>T p.E418D Substitution - Missense 3:45968080-45968080 - TCGA-A5-A0GP-01 COSM1045239 c.4G>C p.A2P Substitution - Missense 3:45984907-45984907 - HCC107 COSM1617649 c.1885G>A p.V629I Substitution - Missense 3:45967449-45967449 - TCGA-BR-4256-01 COSM4117845 c.1475G>A p.R492Q Substitution - Missense 3:45967859-45967859 - SNUH_G16_S1 COSM3760118 c.1335G>A p.L445L Substitution - coding silent 3:45967999-45967999 - TCGA-EE-A2A2-06 COSM3594436 c.625C>T p.L209L Substitution - coding silent 3:45969680-45969680 - LUAD-D01278 COSM362954 c.2917G>A p.G973S Substitution - Missense 3:45966417-45966417 - PTC-1C COSM4158059 c.1669G>T p.A557S Substitution - Missense 3:45967665-45967665 - MedB-1 COSM5620853 c.3250C>A p.L1084M Substitution - Missense 3:45964355-45964355 - C91 COSM4444917 c.3541G>T p.D1181Y Substitution - Missense 3:45959439-45959439 - WSU-HN8 COSM4158059 c.1669G>T p.A557S Substitution - Missense 3:45967665-45967665 - ESO-859 COSM1238949 c.2846G>A p.R949H Substitution - Missense 3:45966488-45966488 - HN_63081 COSM120903 c.2505A>T p.E835D Substitution - Missense 3:45966829-45966829 - TCGA-BS-A0TE-01 COSM1045236 c.236C>T p.A79V Substitution - Missense 3:45979757-45979757 - TCGA-BS-A0U8-01 COSM1045233 c.427C>T p.Q143* Substitution - Nonsense 3:45973200-45973200 - PD12803a COSM3769930 c.1064G>A p.R355Q Substitution - Missense 3:45968270-45968270 - TCGA-AN-A0AK-01 COSM3823956 c.4159A>G p.T1387A Substitution - Missense 3:45931163-45931163 - HCT8 COSM4634991 c.3331C>T p.Q1111* Substitution - Nonsense 3:45962331-45962331 - TCGA-DD-A73G-01 COSM4941306 c.3076A>G p.K1026E Substitution - Missense 3:45965107-45965107 - YUJUBE COSM5399424 c.4053C>T p.P1351P Substitution - coding silent 3:45931269-45931269 - PTC-77C COSM4158059 c.1669G>T p.A557S Substitution - Missense 3:45967665-45967665 - TCGA-AP-A059-01 COSM1045216 c.3574C>T p.R1192W Substitution - Missense 3:45959406-45959406 - T-e COSM308396 c.1843C>T p.R615W Substitution - Missense 3:45967491-45967491 - HT29 COSM4324538 c.2614G>A p.A872T Substitution - Missense 3:45966720-45966720 - BD72T COSM1045220 c.3216G>A p.A1072A Substitution - coding silent 3:45964389-45964389 - TCGA-GN-A26C-01 COSM3594424 c.3361C>A p.Q1121K Substitution - Missense 3:45962301-45962301 - HCC027T COSM5811766 c.1285G>A p.E429K Substitution - Missense 3:45968049-45968049 - TCGA-EB-A3XD-01 COSM3594432 c.1326G>A p.R442R Substitution - coding silent 3:45968008-45968008 - LUAD-B01970 COSM356139 c.1459C>G p.L487V Substitution - Missense 3:45967875-45967875 - ESO-250 COSM1252894 c.1402C>A p.Q468K Substitution - Missense 3:45967932-45967932 - PT36 COSM3769930 c.1064G>A p.R355Q Substitution - Missense 3:45968270-45968270 - TCGA-MH-A55W-01 COSM3067937 c.969G>T p.E323D Substitution - Missense 3:45968365-45968365 - PD3904a COSM219189 c.682G>A p.A228T Substitution - Missense 3:45968652-45968652 - TCGA-AN-A046-01 COSM3823958 c.2753A>C p.E918A Substitution - Missense 3:45966581-45966581 - DLD1 COSM3067931 c.1338G>A p.E446E Substitution - coding silent 3:45967996-45967996 - TCGA-BH-A18P-01 COSM446571 c.2950C>G p.Q984E Substitution - Missense 3:45966384-45966384 - CSCC-38-T COSM4541167 c.2956G>A p.E986K Substitution - Missense 3:45966378-45966378 - sysucc-1370T COSM5471739 c.854C>T p.A285V Substitution - Missense 3:45968480-45968480 - PTC-54C COSM4158059 c.1669G>T p.A557S Substitution - Missense 3:45967665-45967665 - PCSI_0547_Pa_P_526 COSM5031934 c.3507A>G p.R1169R Substitution - coding silent 3:45959473-45959473 - WA37 COSM239936 c.1318G>A p.D440N Substitution - Missense 3:45968016-45968016 - NOKSI COSM4158059 c.1669G>T p.A557S Substitution - Missense 3:45967665-45967665 - CX-1 COSM4324538 c.2614G>A p.A872T Substitution - Missense 3:45966720-45966720 - PCSI_0077_Pa_P_526 COSM4808509 c.733C>T p.R245W Substitution - Missense 3:45968601-45968601 - BD161T COSM5507691 c.3712G>A p.D1238N Substitution - Missense 3:45958495-45958495 - PD4954a COSM5778260 c.1421A>T p.Q474L Substitution - Missense 3:45967913-45967913 - TCGA-B1-A654-01 COSM4414437 c.3612C>G p.Y1204* Substitution - Nonsense 3:45958595-45958595 - T3498 COSM4685931 c.3244delG p.A1082fs*7 Deletion - Frameshift 3:45964361-45964361 - HCA46 COSM4629490 c.1015C>T p.R339W Substitution - Missense 3:45968319-45968319 - TCGA-AP-A059-01 COSM1045232 c.571C>A p.L191M Substitution - Missense 3:45969734-45969734 - TCGA-BS-A0UF-01 COSM1045228 c.1411C>T p.R471* Substitution - Nonsense 3:45967923-45967923 - TCGA-AD-6889-01 COSM1423347 c.2251_2252insGAGA p.K751fs*12 Insertion - Frameshift 3:45967082-45967083 - LUAD-RT-S01477 COSM392105 c.3282_3283insA p.L1095fs*23 Insertion - Frameshift 3:45962379-45962380 - TCGA-ER-A194-01 COSM3594431 c.1417C>T p.L473L Substitution - coding silent 3:45967917-45967917 - TCGA-AP-A0LT-01 COSM1045215 c.3832G>A p.A1278T Substitution - Missense 3:45955361-45955361 - BD87T COSM3760118 c.1335G>A p.L445L Substitution - coding silent 3:45967999-45967999 - TCGA-EE-A2MJ-06 COSM3594429 c.1512G>A p.L504L Substitution - coding silent 3:45967822-45967822 - S00833 COSM311323 c.166G>C p.D56H Substitution - Missense 3:45979827-45979827 - TCGA-FP-A4BE-01 COSM4117843 c.1788G>T p.Q596H Substitution - Missense 3:45967546-45967546 - 66 COSM5742952 c.2707A>G p.T903A Substitution - Missense 3:45966627-45966627 - TCGA-EE-A3AE-06 COSM3594437 c.497C>T p.S166L Substitution - Missense 3:45973130-45973130 - TCGA-B5-A0K9-01 COSM1045215 c.3832G>A p.A1278T Substitution - Missense 3:45955361-45955361 - PR-00-1165 COSM244627 c.4236G>A p.P1412P Substitution - coding silent 3:45931086-45931086 - 381LT COSM4386011 c.2463G>T p.R821S Substitution - Missense 3:45966871-45966871 - TCGA-BH-A0BZ-01 COSM446573 c.2548G>C p.E850Q Substitution - Missense 3:45966786-45966786 - SWE-30 COSM1179424 c.3935C>A p.A1312E Substitution - Missense 3:45955258-45955258 - OSCC-GB_00660111 COSM4888864 c.3579C>A p.H1193Q Substitution - Missense 3:45959401-45959401 - YULAN COSM1045210 c.4315C>T p.R1439C Substitution - Missense 3:45923702-45923702 - 4989_PT COSM5756283 c.210C>A p.Y70* Substitution - Nonsense 3:45979783-45979783 - Pat_04_A COSM5864589 c.265C>T p.R89C Substitution - Missense 3:45979728-45979728 - cSCCP6 COSM136341 c.4054C>T p.L1352F Substitution - Missense 3:45931268-45931268 - HCT15 COSM3067915 c.2110A>G p.S704G Substitution - Missense 3:45967224-45967224 - 4989_CLM COSM5756283 c.210C>A p.Y70* Substitution - Nonsense 3:45979783-45979783 - TCGA-BR-6452-01 COSM4117836 c.4220A>G p.E1407G Substitution - Missense 3:45931102-45931102 - TCGA-AR-A0U2-01 COSM446574 c.688delG p.E230fs*8 Deletion - Frameshift 3:45968646-45968646 - CRC-21T COSM5479455 c.3286G>A p.E1096K Substitution - Missense 3:45962376-45962376 - SNU-C2B COSM4324540 c.205G>T p.D69Y Substitution - Missense 3:45979788-45979788 - 8016470 COSM1045210 c.4315C>T p.R1439C Substitution - Missense 3:45923702-45923702 - UM-SCC-17B COSM4158059 c.1669G>T p.A557S Substitution - Missense 3:45967665-45967665 - WA35 COSM239935 c.2032G>T p.E678* Substitution - Nonsense 3:45967302-45967302 - ME009T COSM222800 c.4234C>T p.P1412S Substitution - Missense 3:45931088-45931088 - 587342 COSM1207697 c.1231G>A p.E411K Substitution - Missense 3:45968103-45968103 - TCGA-BR-4184-01 COSM3067914 c.2121C>T p.G707G Substitution - coding silent 3:45967213-45967213 - PT41 COSM5924292 c.3270-6C>T p.? Unknown 3:45962398-45962398 - TCGA-FS-A1ZP-06 COSM3594430 c.1446C>T p.S482S Substitution - coding silent 3:45967888-45967888 - S00501 COSM311322 c.3438-2A>G p.? Unknown 3:45959544-45959544 - TCGA-EK-A2H0-01 COSM4819071 c.3735C>A p.S1245R Substitution - Missense 3:45958472-45958472 - Pat_41_B COSM5864586 c.3937G>A p.A1313T Substitution - Missense 3:45955256-45955256 - SW48 COSM3067937 c.969G>T p.E323D Substitution - Missense 3:45968365-45968365 - TCGA-BS-A0UV-01 COSM1045219 c.3285C>T p.L1095L Substitution - coding silent 3:45962377-45962377 - SCC-9 COSM4158059 c.1669G>T p.A557S Substitution - Missense 3:45967665-45967665 - TCGA-CM-4743-01 COSM1423350 c.1382G>T p.G461V Substitution - Missense 3:45967952-45967952 - TCGA-HU-A4H3-01 COSM1045210 c.4315C>T p.R1439C Substitution - Missense 3:45923702-45923702 - LIM1215 COSM4337466 c.3656delA p.K1219fs*104 Deletion - Frameshift 3:45958551-45958551 - Pat_11_B COSM3067882 c.3824C>T p.P1275L Substitution - Missense 3:45955369-45955369 - TCGA-EE-A3J5-06 COSM3594428 c.1736C>T p.S579F Substitution - Missense 3:45967598-45967598 - TCGA-AM-5820-01 COSM3760118 c.1335G>A p.L445L Substitution - coding silent 3:45967999-45967999 - DLD1 COSM3067915 c.2110A>G p.S704G Substitution - Missense 3:45967224-45967224 - Au3 COSM5601532 c.1531C>T p.L511L Substitution - coding silent 3:45967803-45967803 - PT55 COSM5941805 c.1162C>T p.R388W Substitution - Missense 3:45968172-45968172 - TCGA-RC-A7SF-01 COSM4923228 c.3542A>G p.D1181G Substitution - Missense 3:45959438-45959438 - PR-02-254 COSM244626 c.1129C>G p.Q377E Substitution - Missense 3:45968205-45968205 - BN50 COSM1617648 c.4199C>T p.S1400F Substitution - Missense 3:45931123-45931123 - B22-Tumor COSM1753230 c.1336G>A p.E446K Substitution - Missense 3:45967998-45967998 - MDA-MB-468 COSM1670119 c.4385A>G p.Y1462C Substitution - Missense 3:45921817-45921817 - TCGA-KR-A7K8-01 COSM4918267 c.2185G>T p.E729* Substitution - Nonsense 3:45967149-45967149 - 9227_T COSM5042367 c.1109G>A p.G370D Substitution - Missense 3:45968225-45968225 - ESO-0023 COSM1252893 c.2067G>C p.E689D Substitution - Missense 3:45967267-45967267 - TCGA-AM-5821-01 COSM3760117 c.2036C>T p.A679V Substitution - Missense 3:45967298-45967298 - ME024T COSM226074 c.1433C>G p.A478G Substitution - Missense 3:45967901-45967901 - TCGA-AA-3833-01 COSM271267 c.2327C>T p.A776V Substitution - Missense 3:45967007-45967007 - J76_T COSM3945511 c.3269+10A>T p.? Unknown 3:45964326-45964326 - HT115 COSM1045228 c.1411C>T p.R471* Substitution - Nonsense 3:45967923-45967923 - HCT8 COSM3067931 c.1338G>A p.E446E Substitution - coding silent 3:45967996-45967996 - TCGA-30-1855-01 COSM1328212 c.3332A>G p.Q1111R Substitution - Missense 3:45962330-45962330 - TCGA-G4-6302-01 COSM3696106 c.4344C>T p.F1448F Substitution - coding silent 3:45923673-45923673 - TCGA-EE-A3J5-06 COSM3594434 c.1027A>G p.M343V Substitution - Missense 3:45968307-45968307 - YUMOOK COSM1692684 c.596C>T p.S199F Substitution - Missense 3:45969709-45969709 - TCGA-BR-6852-01 COSM3067902 c.2805C>T p.D935D Substitution - coding silent 3:45966529-45966529 - 61 COSM5736584 c.3670C>T p.R1224* Substitution - Nonsense 3:45958537-45958537 - T3298 COSM4685930 c.3245C>T p.A1082V Substitution - Missense 3:45964360-45964360 - TCGA-B5-A0JY-01 COSM1045231 c.707G>A p.R236Q Substitution - Missense 3:45968627-45968627 - TCGA-B5-A0K9-01 COSM1045220 c.3216G>A p.A1072A Substitution - coding silent 3:45964389-45964389 - SCC-25 COSM4158059 c.1669G>T p.A557S Substitution - Missense 3:45967665-45967665 - TCGA-BR-6452-01 COSM4117838 c.3577C>T p.H1193Y Substitution - Missense 3:45959403-45959403 - CHC1531T COSM4804763 c.2337A>T p.E779D Substitution - Missense 3:45966997-45966997 - TCGA-D1-A15X-01 COSM1045211 c.4224C>T p.A1408A Substitution - coding silent 3:45931098-45931098 - CAL27 COSM4158059 c.1669G>T p.A557S Substitution - Missense 3:45967665-45967665 - TCGA-AK-3460-01 COSM3365192 c.1223A>T p.Q408L Substitution - Missense 3:45968111-45968111 - TCGA-AA-A00N-01 COSM275234 c.4071C>T p.I1357I Substitution - coding silent 3:45931251-45931251 - TCGA-AX-A0J0-01 COSM1045209 c.4384T>C p.Y1462H Substitution - Missense 3:45921818-45921818 - ACINAR03 COSM1734624 c.3968C>T p.T1323M Substitution - Missense 3:45936520-45936520 - B22 COSM1753230 c.1336G>A p.E446K Substitution - Missense 3:45967998-45967998 - S02384 COSM5698447 c.3501G>A p.E1167E Substitution - coding silent 3:45959479-45959479 - TCGA-DB-A4XE-01 COSM3974428 c.1739G>A p.S580N Substitution - Missense 3:45967595-45967595 - CSCC-10-T COSM4454309 c.459A>G p.Q153Q Substitution - coding silent 3:45973168-45973168 - TCGA-E1-5304-01 COSM3067947 c.498G>A p.S166S Substitution - coding silent 3:45973129-45973129 - PTC-7C COSM4158061 c.819A>G p.Q273Q Substitution - coding silent 3:45968515-45968515 - sysucc-311T COSM5465889 c.1418T>C p.L473P Substitution - Missense 3:45967916-45967916 - TCGA-BS-A0UV-01 COSM1045238 c.131A>C p.K44T Substitution - Missense 3:45981601-45981601 - ccRCC-38 COSM1661931 c.766C>G p.L256V Substitution - Missense 3:45968568-45968568 - PTC-7C COSM4158060 c.962G>C p.G321A Substitution - Missense 3:45968372-45968372 - UPCI:SCC090 COSM4158059 c.1669G>T p.A557S Substitution - Missense 3:45967665-45967665 - PCSI_0090_Pa_X COSM3380729 c.932C>T p.T311I Substitution - Missense 3:45968402-45968402 - C086 COSM5531529 c.278C>T p.S93F Substitution - Missense 3:45979715-45979715 - BD121T COSM5514929 c.1251C>T p.V417V Substitution - coding silent 3:45968083-45968083 - pfg104T COSM4754262 c.3253C>T p.R1085C Substitution - Missense 3:45964352-45964352 - TCGA-IR-A3LK-01 COSM4816642 c.2241C>G p.L747L Substitution - coding silent 3:45967093-45967093 - WSU-HN12 COSM4158059 c.1669G>T p.A557S Substitution - Missense 3:45967665-45967665 - TCGA-B5-A0JY-01 COSM1045234 c.378G>T p.M126I Substitution - Missense 3:45975256-45975256 - TCGA-26-5135-01 COSM3067877 c.3935C>T p.A1312V Substitution - Missense 3:45955258-45955258 - RMS2031 COSM5880567 c.1339C>T p.R447C Substitution - Missense 3:45967995-45967995 - TCGA-EE-A2A2-06 COSM3594438 c.88G>A p.E30K Substitution - Missense 3:45981644-45981644 - TCGA-UB-A7MB-01 COSM4930905 c.541A>G p.R181G Substitution - Missense 3:45969764-45969764 - ESCC-191T COSM3940531 c.4402C>T p.R1468W Substitution - Missense 3:45921800-45921800 - 399 COSM4429261 c.3662G>A p.R1221H Substitution - Missense 3:45958545-45958545 - UM-SCC-47 COSM4158059 c.1669G>T p.A557S Substitution - Missense 3:45967665-45967665 - HT115 COSM3067888 c.3411C>T p.L1137L Substitution - coding silent 3:45962251-45962251 - CAL33 COSM4158059 c.1669G>T p.A557S Substitution - Missense 3:45967665-45967665 - TCGA-HC-7078-01 COSM1471666 c.284C>T p.S95L Substitution - Missense 3:45979709-45979709 - TCGA-CG-5726-01 COSM3067914 c.2121C>T p.G707G Substitution - coding silent 3:45967213-45967213 - 19 COSM5746114 c.2137C>T p.R713W Substitution - Missense 3:45967197-45967197 - TCGA-AA-3516-01 COSM291568 c.494C>T p.A165V Substitution - Missense 3:45973133-45973133 - SA217 COSM214044 c.3413A>T p.E1138V Substitution - Missense 3:45962249-45962249 - CHC2029T COSM5347577 c.162+1_162+2delGT p.? Unknown 3:45981568-45981569 - TCGA-BQ-5885-01 COSM3993094 c.858G>A p.E286E Substitution - coding silent 3:45968476-45968476 - WSU-HN13 COSM4158059 c.1669G>T p.A557S Substitution - Missense 3:45967665-45967665 - T7 COSM3760117 c.2036C>T p.A679V Substitution - Missense 3:45967298-45967298 - CSCC-16-T COSM4493551 c.4178C>T p.S1393F Substitution - Missense 3:45931144-45931144 - 2290929 COSM4439930 c.1994C>T p.A665V Substitution - Missense 3:45967340-45967340 - TCGA-FW-A3R5-06 COSM136341 c.4054C>T p.L1352F Substitution - Missense 3:45931268-45931268 - OSCC-GB_00990111 COSM4885726 c.4275C>G p.C1425W Substitution - Missense 3:45923742-45923742 - TCGA-DA-A3F8-06 COSM3067947 c.498G>A p.S166S Substitution - coding silent 3:45973129-45973129 - RMH004-R2 COSM4411266 c.2200G>A p.E734K Substitution - Missense 3:45967134-45967134 - TCGA-EE-A2GM-06 COSM3594427 c.2080C>T p.Q694* Substitution - Nonsense 3:45967254-45967254 - TCGA-C5-A1M6-01 COSM4826723 c.1858G>A p.E620K Substitution - Missense 3:45967476-45967476 - Gp2D COSM4628210 c.858G>T p.E286D Substitution - Missense 3:45968476-45968476 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.200227 3p21.31 607182

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.W371R c.1111T>C 3 46009715 CM A T 3-UTRSNV . c.4434+1815T>A 3 45961445 HC C A Missense p.G87W c.259G>T 3 46021226 LUAD C A Missense p.R245L c.734G>T 3 46010092 LUSC C A Missense p.R988L c.2963G>T 3 46007863 CM C A Missense p.S1027I c.3080G>T 3 46006595 LUAD C A Missense p.V113L c.337G>T 3 46016789 UCEC C A Nonsense p.E1138* c.3412G>T 3 46003742 BRCA C A Nonsense p.E156* c.466G>T 3 46014653 LUAD C A Nonsense p.E33* c.97G>T 3 46023127 LUAD - CC SpliceDonorInsertion . c.55_55+1dupGG 3 46026347 BRCA C G Missense p.A2P c.4G>C 3 46026399 UCEC C G Missense p.D56H c.166G>C 3 46021319 SCLC C G Missense p.E689D c.2067G>C 3 46008759 ESCA C G Missense p.E850Q c.2548G>C 3 46008278 BRCA C G Missense p.E932Q c.2794G>C 3 46008032 LUAD C G Synonymous p.L1007L c.3021G>C 3 46007805 BRCA C T IntronicSNV . c.1-1498G>A 3 46027900 CLL C T Missense p.A1278T c.3832G>A 3 45996853 UCEC C T Missense p.A296V c.887C>T 3 46009939 GBM C T Missense p.E30K c.88G>A 3 46023136 CM C T Missense p.E500K c.1498G>A 3 46009328 CM C T Missense p.R492Q c.1475G>A 3 46009351 STAD C T Nonsense p.W585* c.1755G>A 3 46009071 CM C T Synonymous p.A1072A c.3216G>A 3 46005881 UCEC C T Synonymous p.E750E c.2250G>A 3 46008576 CM C T Synonymous p.L358L c.1074G>A 3 46009752 CM C T Synonymous p.L504L c.1512G>A 3 46009314 CM C T Synonymous p.L915L c.2745G>A 3 46008081 BRCA C T Synonymous p.Q423Q c.1269G>A 3 46009557 CM C T Synonymous p.S166S c.498G>A 3 46014621 CM C T Synonymous p.S166S c.498G>A 3 46014621 LGG G A 3-UTRSNV . c.4434+102C>T 3 45963158 CM - GA IntronicInsertion . c.3944+2534_3944+2535insTC 3 45994206 CM G A Missense p.A1312V c.3935C>T 3 45996750 GBM G A Missense p.A396V c.1187C>T 3 46009639 LGG G A Missense p.H479Y c.1435C>T 3 46009391 CM G A Missense p.P1412S c.4234C>T 3 45972580 CM G A Missense p.R109C c.325C>T 3 46016801 CM G A Missense p.R1184W c.3550C>T 3 46000922 UCEC G A Missense p.S166L c.497C>T 3 46014622 CM G A Missense p.S579F c.1736C>T 3 46009090 CM G A Missense p.S95L c.284C>T 3 46021201 PRAD G A Nonsense p.Q143* c.427C>T 3 46014692 UCEC G A Nonsense p.Q694* c.2080C>T 3 46008746 CM G A Nonsense p.Q786* c.2356C>T 3 46008470 CM G A Synonymous p.C848C c.2544C>T 3 46008282 HNSC G A Synonymous p.D935D c.2805C>T 3 46008021 STAD G A Synonymous p.F517F c.1551C>T 3 46009275 CM G A Synonymous p.F74F c.222C>T 3 46021263 CM G A Synonymous p.G594G c.1782C>T 3 46009044 STAD G A Synonymous p.G707G c.2121C>T 3 46008705 STAD G A Synonymous p.L209L c.625C>T 3 46011172 CM G A Synonymous p.L473L c.1417C>T 3 46009409 CM G A Synonymous p.L522L c.1564C>T 3 46009262 LUAD G A Synonymous p.L682L c.2044C>T 3 46008782 UCEC G A Synonymous p.S482S c.1446C>T 3 46009380 CM GC AT Missense p.C882Y c.2645_2646delinsAT 3 46008180 CM G C Missense p.T381R c.1142C>G 3 46009684 BRCA G T Missense p.F74L c.222C>A 3 46021263 BRCA G T Missense p.L1003I c.3007C>A 3 46007819 UCEC G T Missense p.Q1121K c.3361C>A 3 46003793 CM G T Missense p.Q582K c.1744C>A 3 46009082 LUAD G T Synonymous p.R442R c.1324C>A 3 46009502 CM T A Missense p.E1138V c.3413A>T 3 46003741 BRCA T A Missense p.E835D c.2505A>T 3 46008321 HNSC T A Missense p.Q320L c.959A>T 3 46009867 CM T A Missense p.Q408L c.1223A>T 3 46009603 RCCC T A Missense p.S1027C c.3079A>T 3 46006596 BLCA T C Missense p.D1147G c.3440A>G 3 46001032 RCCC T C Missense p.K692R c.2075A>G 3 46008751 UCEC T C Missense p.M343V c.1027A>G 3 46009799 CM T C SpliceAcceptorSNV . c.3438-2A>G 3 46001036 SCLC T C SpliceAcceptorSNV . c.56-2A>G 3 46023170 LGG T G Synonymous p.L702L c.2106A>C 3 46008720 COREAD