Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 12 113496054 113496054 + Silent SNP G G A TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr12:113496054G>A c.57G>A c.(55-57)ccG>ccA p.P19P ACC 12 113533150 113533150 + Silent SNP C C T TCGA-OR-A5KO-01A-11D-A29I-10 TCGA-OR-A5KO-10A-01D-A29L-10 g.chr12:113533150C>T c.1569C>T c.(1567-1569)ccC>ccT p.P523P BLCA 12 113515257 113515257 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 g.chr12:113515257C>T c.288C>T c.(286-288)ttC>ttT p.F96F BLCA 12 113515265 113515265 + Missense_Mutation SNP C C G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 g.chr12:113515265C>G c.296C>G c.(295-297)cCg>cGg p.P99R BLCA 12 113515459 113515459 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 g.chr12:113515459C>T c.490C>T c.(490-492)Cgc>Tgc p.R164C BLCA 12 113531504 113531504 + Splice_Site SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr12:113531504G>C c.1164G>C c.(1162-1164)aaG>aaC p.K388N BLCA 12 113532886 113532886 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 g.chr12:113532886G>A c.1426G>A c.(1426-1428)Ggg>Agg p.G476R BLCA 12 113532921 113532921 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr12:113532921G>A c.1461G>A c.(1459-1461)atG>atA p.M487I BRCA 12 113496004 113496004 + Missense_Mutation SNP C C G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 g.chr12:113496004C>G c.7C>G c.(7-9)Cgg>Ggg p.R3G BRCA 12 113515419 113515419 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 g.chr12:113515419C>T c.450C>T c.(448-450)ctC>ctT p.L150L BRCA 12 113515623 113515624 + Missense_Mutation DNP CC CC GT TCGA-AQ-A04J-01A-02W-A050-09 TCGA-AQ-A04J-10A-01W-A055-09 g.chr12:113515623_113515624CC>GT c.654_655CC>GT c.(652-657)atCCtg>atGTtg p.I218M BRCA 12 113530988 113530988 + Silent SNP G G A TCGA-AR-A2LE-01A-11D-A17W-09 TCGA-AR-A2LE-10A-01D-A17W-09 g.chr12:113530988G>A c.963G>A c.(961-963)aaG>aaA p.K321K BRCA 12 113532664 113532664 + Missense_Mutation SNP T T A TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 g.chr12:113532664T>A c.1298T>A c.(1297-1299)gTg>gAg p.V433E BRCA 12 113534596 113534596 + Nonsense_Mutation SNP C C A TCGA-A7-A5ZW-01A-12D-A29N-09 TCGA-A7-A5ZW-10A-01D-A29N-09 g.chr12:113534596C>A c.1715C>A c.(1714-1716)tCg>tAg p.S572* CESC 12 113531867 113531867 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr12:113531867G>T c.1190G>T c.(1189-1191)cGa>cTa p.R397L CESC 12 113534597 113534597 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr12:113534597G>C c.1716G>C c.(1714-1716)tcG>tcC p.S572S CHOL 12 113531422 113531422 + Missense_Mutation SNP C C T TCGA-W5-AA2Z-01A-11D-A417-09 TCGA-W5-AA2Z-11A-11D-A41A-09 g.chr12:113531422C>T c.1082C>T c.(1081-1083)cCg>cTg p.P361L COAD 12 113515278 113515278 + Silent SNP G G A TCGA-AA-3664-01A-01W-0900-09 TCGA-AA-3664-10A-01W-0900-09 g.chr12:113515278G>A c.309G>A c.(307-309)ccG>ccA p.P103P COAD 12 113515332 113515332 + Silent SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr12:113515332C>T c.363C>T c.(361-363)taC>taT p.Y121Y COAD 12 113515344 113515344 + Silent SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:113515344C>A c.375C>A c.(373-375)atC>atA p.I125I COAD 12 113532889 113532889 + Missense_Mutation SNP G G C TCGA-AA-3542-01A-02W-0831-10 TCGA-AA-3542-10A-01W-0831-10 g.chr12:113532889G>C c.1429G>C c.(1429-1431)Gag>Cag p.E477Q COAD 12 113532977 113532977 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:113532977G>A c.1517G>A c.(1516-1518)cGc>cAc p.R506H COAD 12 113533182 113533182 + Missense_Mutation SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr12:113533182G>A c.1601G>A c.(1600-1602)cGc>cAc p.R534H COAD 12 113533198 113533198 + Silent SNP C C A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr12:113533198C>A c.1617C>A c.(1615-1617)ccC>ccA p.P539P COAD 12 113534527 113534527 + Missense_Mutation SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr12:113534527G>A c.1646G>A c.(1645-1647)cGg>cAg p.R549Q COAD 12 113534674 113534674 + Missense_Mutation SNP C C T TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr12:113534674C>T c.1793C>T c.(1792-1794)gCt>gTt p.A598V COAD 12 113534686 113534686 + Missense_Mutation SNP A A G TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr12:113534686A>G c.1805A>G c.(1804-1806)gAc>gGc p.D602G COADREAD 12 113515278 113515278 + Silent SNP G G A TCGA-AA-3664-01A-01W-0900-09 TCGA-AA-3664-10A-01W-0900-09 g.chr12:113515278G>A c.309G>A c.(307-309)ccG>ccA p.P103P COADREAD 12 113515332 113515332 + Silent SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr12:113515332C>T c.363C>T c.(361-363)taC>taT p.Y121Y COADREAD 12 113515344 113515344 + Silent SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:113515344C>A c.375C>A c.(373-375)atC>atA p.I125I COADREAD 12 113532889 113532889 + Missense_Mutation SNP G G C TCGA-AA-3542-01A-02W-0831-10 TCGA-AA-3542-10A-01W-0831-10 g.chr12:113532889G>C c.1429G>C c.(1429-1431)Gag>Cag p.E477Q COADREAD 12 113532977 113532977 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:113532977G>A c.1517G>A c.(1516-1518)cGc>cAc p.R506H COADREAD 12 113533182 113533182 + Missense_Mutation SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr12:113533182G>A c.1601G>A c.(1600-1602)cGc>cAc p.R534H COADREAD 12 113533198 113533198 + Silent SNP C C A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr12:113533198C>A c.1617C>A c.(1615-1617)ccC>ccA p.P539P COADREAD 12 113534527 113534527 + Missense_Mutation SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr12:113534527G>A c.1646G>A c.(1645-1647)cGg>cAg p.R549Q COADREAD 12 113534674 113534674 + Missense_Mutation SNP C C T TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr12:113534674C>T c.1793C>T c.(1792-1794)gCt>gTt p.A598V COADREAD 12 113534686 113534686 + Missense_Mutation SNP A A G TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr12:113534686A>G c.1805A>G c.(1804-1806)gAc>gGc p.D602G DLBC 12 113496024 113496024 + Silent SNP G G C TCGA-RQ-AAAT-01A-11D-A38X-10 TCGA-RQ-AAAT-10A-01D-A38X-10 g.chr12:113496024G>C c.27G>C c.(25-27)ctG>ctC p.L9L DLBC 12 113496044 113496044 + Missense_Mutation SNP G G A TCGA-FA-A4BB-01A-11D-A31X-10 TCGA-FA-A4BB-10A-01D-A31X-10 g.chr12:113496044G>A c.47G>A c.(46-48)gGc>gAc p.G16D DLBC 12 113496132 113496132 + Silent SNP C C T TCGA-FF-A7CR-01A-11D-A382-10 TCGA-FF-A7CR-10A-01D-A385-10 g.chr12:113496132C>T c.135C>T c.(133-135)tgC>tgT p.C45C DLBC 12 113496135 113496135 + Silent SNP C C T TCGA-FF-8043-01A-11D-2210-10 TCGA-FF-8043-10A-01D-2210-10 g.chr12:113496135C>T c.138C>T c.(136-138)caC>caT p.H46H DLBC 12 113496139 113496139 + Missense_Mutation SNP A A T TCGA-RQ-AAAT-01A-11D-A38X-10 TCGA-RQ-AAAT-10A-01D-A38X-10 g.chr12:113496139A>T c.142A>T c.(142-144)Att>Ttt p.I48F DLBC 12 113496147 113496147 + Silent SNP C C T TCGA-FA-A82F-01A-11D-A382-10 TCGA-FA-A82F-10A-01D-A385-10 g.chr12:113496147C>T c.150C>T c.(148-150)aaC>aaT p.N50N DLBC 12 113496151 113496151 + Missense_Mutation SNP C C G TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr12:113496151C>G c.154C>G c.(154-156)Ctg>Gtg p.L52V DLBC 12 113496182 113496182 + Missense_Mutation SNP T T G TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr12:113496182T>G c.185T>G c.(184-186)cTg>cGg p.L62R DLBC 12 113496201 113496201 + Silent SNP G G A TCGA-RQ-AAAT-01A-11D-A38X-10 TCGA-RQ-AAAT-10A-01D-A38X-10 g.chr12:113496201G>A c.204G>A c.(202-204)caG>caA p.Q68Q ESCA 12 113515631 113515631 + Missense_Mutation SNP C C G TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 g.chr12:113515631C>G c.662C>G c.(661-663)tCg>tGg p.S221W ESCA 12 113533166 113533166 + Missense_Mutation SNP G G A TCGA-IG-A6QS-01A-12D-A33E-09 TCGA-IG-A6QS-10B-01D-A33H-09 g.chr12:113533166G>A c.1585G>A c.(1585-1587)Gca>Aca p.A529T ESCA 12 113534587 113534587 + Missense_Mutation SNP C C T TCGA-LN-A7HV-01A-21D-A351-09 TCGA-LN-A7HV-10A-01D-A351-09 g.chr12:113534587C>T c.1706C>T c.(1705-1707)aCg>aTg p.T569M GBMLGG 12 113515358 113515358 + Missense_Mutation SNP A A G TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 g.chr12:113515358A>G c.389A>G c.(388-390)cAg>cGg p.Q130R GBMLGG 12 113532652 113532652 + Missense_Mutation SNP G G A TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 g.chr12:113532652G>A c.1286G>A c.(1285-1287)cGg>cAg p.R429Q GBMLGG 12 113533219 113533219 + Splice_Site SNP G G T TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 g.chr12:113533219G>T c.1638G>T c.(1636-1638)aaG>aaT p.K546N GBMLGG 12 113534718 113534718 + Missense_Mutation SNP G G A TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 g.chr12:113534718G>A c.1837G>A c.(1837-1839)Gta>Ata p.V613I HNSC 12 113496126 113496126 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr12:113496126C>T c.129C>T c.(127-129)acC>acT p.T43T HNSC 12 113496163 113496163 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 g.chr12:113496163G>A c.166G>A c.(166-168)Gct>Act p.A56T HNSC 12 113496166 113496166 + Missense_Mutation SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 g.chr12:113496166C>T c.169C>T c.(169-171)Cgc>Tgc p.R57C HNSC 12 113515368 113515368 + Silent SNP C C T TCGA-CN-4739-01A-02D-1512-08 TCGA-CN-4739-10A-01D-1512-08 g.chr12:113515368C>T c.399C>T c.(397-399)taC>taT p.Y133Y HNSC 12 113532922 113532922 + Missense_Mutation SNP G G C TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 g.chr12:113532922G>C c.1462G>C c.(1462-1464)Gag>Cag p.E488Q HNSC 12 113533182 113533182 + Missense_Mutation SNP G G A TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chr12:113533182G>A c.1601G>A c.(1600-1602)cGc>cAc p.R534H HNSC 12 113534540 113534540 + Silent SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 g.chr12:113534540G>T c.1659G>T c.(1657-1659)acG>acT p.T553T HNSC 12 113534672 113534672 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr12:113534672C>T c.1791C>T c.(1789-1791)gaC>gaT p.D597D KIPAN 12 113496211 113496211 + Missense_Mutation SNP T T C TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 g.chr12:113496211T>C c.214T>C c.(214-216)Tac>Cac p.Y72H KIPAN 12 113531444 113531444 + Silent SNP G G T TCGA-SX-A71S-01A-11D-A33Q-10 TCGA-SX-A71S-10A-01D-A33Q-10 g.chr12:113531444G>T c.1104G>T c.(1102-1104)gtG>gtT p.V368V KIPAN 12 113531851 113531851 + Missense_Mutation SNP C C G TCGA-CW-5589-01A-01D-1534-10 TCGA-CW-5589-11A-01D-1535-10 g.chr12:113531851C>G c.1174C>G c.(1174-1176)Ccc>Gcc p.P392A KIPAN 12 113531890 113531890 + Missense_Mutation SNP A A C TCGA-CJ-4881-01A-01D-1373-10 TCGA-CJ-4881-11A-01D-1373-10 g.chr12:113531890A>C c.1213A>C c.(1213-1215)Aac>Cac p.N405H KIRC 12 113496211 113496211 + Missense_Mutation SNP T T C TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 g.chr12:113496211T>C c.214T>C c.(214-216)Tac>Cac p.Y72H KIRC 12 113531851 113531851 + Missense_Mutation SNP C C G TCGA-CW-5589-01A-01D-1534-10 TCGA-CW-5589-11A-01D-1535-10 g.chr12:113531851C>G c.1174C>G c.(1174-1176)Ccc>Gcc p.P392A KIRC 12 113531890 113531890 + Missense_Mutation SNP A A C TCGA-CJ-4881-01A-01D-1373-10 TCGA-CJ-4881-11A-01D-1373-10 g.chr12:113531890A>C c.1213A>C c.(1213-1215)Aac>Cac p.N405H KIRP 12 113531444 113531444 + Silent SNP G G T TCGA-SX-A71S-01A-11D-A33Q-10 TCGA-SX-A71S-10A-01D-A33Q-10 g.chr12:113531444G>T c.1104G>T c.(1102-1104)gtG>gtT p.V368V LGG 12 113515358 113515358 + Missense_Mutation SNP A A G TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 g.chr12:113515358A>G c.389A>G c.(388-390)cAg>cGg p.Q130R LGG 12 113532652 113532652 + Missense_Mutation SNP G G A TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 g.chr12:113532652G>A c.1286G>A c.(1285-1287)cGg>cAg p.R429Q LGG 12 113533219 113533219 + Splice_Site SNP G G T TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 g.chr12:113533219G>T c.1638G>T c.(1636-1638)aaG>aaT p.K546N LGG 12 113534718 113534718 + Missense_Mutation SNP G G A TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 g.chr12:113534718G>A c.1837G>A c.(1837-1839)Gta>Ata p.V613I LIHC 12 113534661 113534661 + Missense_Mutation SNP G G A TCGA-WQ-A9G7-01A-11D-A36X-10 TCGA-WQ-A9G7-10A-01D-A370-10 g.chr12:113534661G>A c.1780G>A c.(1780-1782)Ggc>Agc p.G594S LUAD 12 113496148 113496148 + Missense_Mutation SNP G G A TCGA-83-5908-01A-21D-2284-08 TCGA-83-5908-10A-01D-2284-08 g.chr12:113496148G>A c.151G>A c.(151-153)Gtg>Atg p.V51M LUAD 12 113515241 113515241 + Missense_Mutation SNP C C A TCGA-91-A4BC-01A-11D-A24D-08 TCGA-91-A4BC-10A-01D-A24F-08 g.chr12:113515241C>A c.272C>A c.(271-273)cCc>cAc p.P91H LUAD 12 113515246 113515246 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 g.chr12:113515246C>A c.277C>A c.(277-279)Cgg>Agg p.R93R LUAD 12 113515278 113515278 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 g.chr12:113515278G>T c.309G>T c.(307-309)ccG>ccT p.P103P LUAD 12 113515322 113515322 + Missense_Mutation SNP G G C TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 g.chr12:113515322G>C c.353G>C c.(352-354)tGg>tCg p.W118S LUAD 12 113530994 113530994 + Missense_Mutation SNP G G T TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr12:113530994G>T c.969G>T c.(967-969)ttG>ttT p.L323F LUAD 12 113531362 113531362 + Missense_Mutation SNP T T C TCGA-86-7711-01A-11D-2063-08 TCGA-86-7711-10A-01D-2063-08 g.chr12:113531362T>C c.1022T>C c.(1021-1023)cTg>cCg p.L341P LUAD 12 113531399 113531399 + Silent SNP C C T TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr12:113531399C>T c.1059C>T c.(1057-1059)gcC>gcT p.A353A LUAD 12 113532912 113532912 + Silent SNP T T A TCGA-55-A492-01A-11D-A24D-08 TCGA-55-A492-10A-01D-A24F-08 g.chr12:113532912T>A c.1452T>A c.(1450-1452)ccT>ccA p.P484P LUAD 12 113532931 113532931 + Missense_Mutation SNP C C A TCGA-55-8299-01A-11D-2284-08 TCGA-55-8299-10B-01D-2323-08 g.chr12:113532931C>A c.1471C>A c.(1471-1473)Ctc>Atc p.L491I LUAD 12 113533149 113533149 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr12:113533149C>A c.1568C>A c.(1567-1569)cCc>cAc p.P523H LUAD 12 113534535 113534535 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 g.chr12:113534535A>T c.1654A>T c.(1654-1656)Atc>Ttc p.I552F LUAD 12 113534584 113534584 + Missense_Mutation SNP C C A TCGA-50-6594-01A-11D-1753-08 TCGA-50-6594-11A-01D-1753-08 g.chr12:113534584C>A c.1703C>A c.(1702-1704)aCc>aAc p.T568N LUAD 12 113534585 113534585 + Silent SNP C C G TCGA-50-6594-01A-11D-1753-08 TCGA-50-6594-11A-01D-1753-08 g.chr12:113534585C>G c.1704C>G c.(1702-1704)acC>acG p.T568T LUSC 12 113531399 113531399 + Silent SNP C C G TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 g.chr12:113531399C>G c.1059C>G c.(1057-1059)gcC>gcG p.A353A OV 12 113534673 113534673 + Missense_Mutation SNP G G A TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 g.chr12:113534673G>A c.1792G>A c.(1792-1794)Gct>Act p.A598T PAAD 12 113496015 113496015 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:113496015C>T c.18C>T c.(16-18)caC>caT p.H6H PAAD 12 113496122 113496122 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:113496122C>T c.125C>T c.(124-126)gCc>gTc p.A42V PAAD 12 113496220 113496220 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:113496220G>A c.223G>A c.(223-225)Gac>Aac p.D75N PAAD 12 113534527 113534527 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:113534527G>A c.1646G>A c.(1645-1647)cGg>cAg p.R549Q PRAD 12 113496245 113496245 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:113496245G>A c.248G>A c.(247-249)cGc>cAc p.R83H PRAD 12 113496256 113496256 + Splice_Site SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:113496256G>T c.259G>T c.(259-261)Ggc>Tgc p.G87C PRAD 12 113531851 113531851 + Frame_Shift_Del DEL C C - TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 g.chr12:113531851delC c.1174delC c.(1174-1176)cccfs p.P392fs PRAD 12 113532986 113532986 + Missense_Mutation SNP A A G TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 g.chr12:113532986A>G c.1526A>G c.(1525-1527)tAt>tGt p.Y509C PRAD 12 113534571 113534571 + Missense_Mutation SNP G G A TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr12:113534571G>A c.1690G>A c.(1690-1692)Ggc>Agc p.G564S SARC 12 113496104 113496104 + Missense_Mutation SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 g.chr12:113496104G>A c.107G>A c.(106-108)cGc>cAc p.R36H SARC 12 113515459 113515459 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 g.chr12:113515459C>T c.490C>T c.(490-492)Cgc>Tgc p.R164C SARC 12 113532615 113532615 + Nonsense_Mutation SNP C C T TCGA-X6-A8C7-01A-11D-A36J-09 TCGA-X6-A8C7-10A-01D-A36M-09 g.chr12:113532615C>T c.1249C>T c.(1249-1251)Cga>Tga p.R417* SKCM 12 113496244 113496244 + Missense_Mutation SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr12:113496244C>T c.247C>T c.(247-249)Cgc>Tgc p.R83C SKCM 12 113496249 113496249 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 g.chr12:113496249G>A c.252G>A c.(250-252)caG>caA p.Q84Q SKCM 12 113496250 113496250 + Missense_Mutation SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr12:113496250G>A c.253G>A c.(253-255)Gac>Aac p.D85N SKCM 12 113515257 113515257 + Silent SNP C C T TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 g.chr12:113515257C>T c.288C>T c.(286-288)ttC>ttT p.F96F SKCM 12 113532612 113532612 + Missense_Mutation SNP G G A TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr12:113532612G>A c.1246G>A c.(1246-1248)Gag>Aag p.E416K SKCM 12 113532692 113532692 + Silent SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr12:113532692C>T c.1326C>T c.(1324-1326)ggC>ggT p.G442G SKCM 12 113532725 113532725 + Silent SNP C C T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 g.chr12:113532725C>T c.1359C>T c.(1357-1359)ctC>ctT p.L453L SKCM 12 113532914 113532914 + Missense_Mutation SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr12:113532914G>A c.1454G>A c.(1453-1455)gGg>gAg p.G485E SKCM 12 113532915 113532915 + Silent SNP G G A TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr12:113532915G>A c.1455G>A c.(1453-1455)ggG>ggA p.G485G SKCM 12 113532927 113532927 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr12:113532927C>T c.1467C>T c.(1465-1467)ttC>ttT p.F489F SKCM 12 113532957 113532957 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:113532957C>T c.1497C>T c.(1495-1497)ttC>ttT p.F499F SKCM 12 113532972 113532972 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:113532972C>T c.1512C>T c.(1510-1512)acC>acT p.T504T SKCM 12 113533172 113533172 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr12:113533172G>A c.1591G>A c.(1591-1593)Gga>Aga p.G531R SKCM 12 113533184 113533184 + Missense_Mutation SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr12:113533184C>T c.1603C>T c.(1603-1605)Cac>Tac p.H535Y SKCM 12 113534561 113534561 + Silent SNP C C T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 g.chr12:113534561C>T c.1680C>T c.(1678-1680)atC>atT p.I560I SKCM 12 113534574 113534574 + Missense_Mutation SNP A A C TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr12:113534574A>C c.1693A>C c.(1693-1695)Acg>Ccg p.T565P

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 12 113496112 113496112 single base substitution C T downstream_gene_variant BLCA-CN 12 113496112 113496112 single base substitution C T missense_variant P39S 115C>T BLCA-CN 12 113531841 113531841 single base substitution A T splice_acceptor_variant BLCA-CN 12 113531841 113531841 single base substitution A T upstream_gene_variant BLCA-US 12 113515257 113515257 single base substitution C T synonymous_variant F96F 288C>T BLCA-US 12 113515265 113515265 single base substitution C G missense_variant P99R 296C>G BLCA-US 12 113515459 113515459 single base substitution C T missense_variant R164C 490C>T BLCA-US 12 113531504 113531504 single base substitution G C missense_variant K388N 1164G>C BLCA-US 12 113531504 113531504 single base substitution G C splice_region_variant BLCA-US 12 113531504 113531504 single base substitution G C upstream_gene_variant BLCA-US 12 113532886 113532886 single base substitution G A downstream_gene_variant BLCA-US 12 113532886 113532886 single base substitution G A exon_variant BLCA-US 12 113532886 113532886 single base substitution G A missense_variant G476R 1426G>A BLCA-US 12 113532921 113532921 single base substitution G A downstream_gene_variant BLCA-US 12 113532921 113532921 single base substitution G A exon_variant BLCA-US 12 113532921 113532921 single base substitution G A missense_variant M487I 1461G>A BOCA-FR 12 113535088 113535088 single base substitution C T 3_prime_UTR_variant BOCA-FR 12 113535088 113535088 single base substitution C T downstream_gene_variant BOCA-FR 12 113535088 113535088 single base substitution C T exon_variant BRCA-EU 12 113490735 113490735 single base substitution C A upstream_gene_variant BRCA-EU 12 113491270 113491270 single base substitution G A upstream_gene_variant BRCA-EU 12 113493219 113493219 single base substitution A C upstream_gene_variant BRCA-EU 12 113493256 113493256 single base substitution C A upstream_gene_variant BRCA-EU 12 113493825 113493825 single base substitution G T upstream_gene_variant BRCA-EU 12 113493826 113493826 single base substitution A T upstream_gene_variant BRCA-EU 12 113494113 113494113 single base substitution G A upstream_gene_variant BRCA-EU 12 113495161 113495161 single base substitution C A intron_variant BRCA-EU 12 113495161 113495161 single base substitution C A upstream_gene_variant BRCA-EU 12 113495162 113495162 single base substitution C A intron_variant BRCA-EU 12 113495162 113495162 single base substitution C A upstream_gene_variant BRCA-EU 12 113495650 113495650 single base substitution G C 5_prime_UTR_variant BRCA-EU 12 113495650 113495650 single base substitution G C exon_variant BRCA-EU 12 113497586 113497586 single base substitution C A downstream_gene_variant BRCA-EU 12 113497586 113497586 single base substitution C A intron_variant BRCA-EU 12 113499237 113499237 single base substitution C G downstream_gene_variant BRCA-EU 12 113499237 113499237 single base substitution C G intron_variant BRCA-EU 12 113501624 113501624 single base substitution C T intron_variant BRCA-EU 12 113501701 113501701 single base substitution C G intron_variant BRCA-EU 12 113502689 113502689 single base substitution G C intron_variant BRCA-EU 12 113504205 113504205 single base substitution C T intron_variant BRCA-EU 12 113504592 113504592 single base substitution C G intron_variant BRCA-EU 12 113504727 113504727 single base substitution G C intron_variant BRCA-EU 12 113506052 113506052 single base substitution C G intron_variant BRCA-EU 12 113506097 113506113 deletion of <=200bp GGGCTGCCAGGCCCGAA - intron_variant BRCA-EU 12 113508452 113508452 single base substitution G A intron_variant BRCA-EU 12 113509069 113509069 single base substitution C T intron_variant BRCA-EU 12 113510665 113510665 single base substitution C T intron_variant BRCA-EU 12 113511795 113511795 single base substitution G A intron_variant BRCA-EU 12 113512427 113512427 single base substitution G A intron_variant BRCA-EU 12 113514461 113514461 single base substitution A G intron_variant BRCA-EU 12 113516492 113516492 single base substitution T A intron_variant BRCA-EU 12 113516617 113516617 single base substitution G C intron_variant BRCA-EU 12 113516970 113516970 single base substitution G T intron_variant BRCA-EU 12 113519814 113519814 single base substitution C G intron_variant BRCA-EU 12 113520474 113520474 single base substitution C A intron_variant BRCA-EU 12 113520547 113520547 single base substitution C T intron_variant BRCA-EU 12 113521060 113521060 single base substitution T G intron_variant BRCA-EU 12 113521423 113521423 single base substitution G A intron_variant BRCA-EU 12 113521937 113521937 single base substitution G T intron_variant BRCA-EU 12 113522025 113522025 single base substitution C T intron_variant BRCA-EU 12 113522221 113522221 single base substitution C T intron_variant BRCA-EU 12 113523051 113523051 single base substitution C T intron_variant BRCA-EU 12 113523051 113523051 single base substitution C T upstream_gene_variant BRCA-EU 12 113523106 113523106 single base substitution T C intron_variant BRCA-EU 12 113523106 113523106 single base substitution T C upstream_gene_variant BRCA-EU 12 113526817 113526817 single base substitution C G intron_variant BRCA-EU 12 113526817 113526817 single base substitution C G upstream_gene_variant BRCA-EU 12 113529959 113529959 single base substitution G A intron_variant BRCA-EU 12 113529959 113529959 single base substitution G A upstream_gene_variant BRCA-EU 12 113531107 113531107 single base substitution C G intron_variant BRCA-EU 12 113531107 113531107 single base substitution C G upstream_gene_variant BRCA-EU 12 113532016 113532016 single base substitution C T intron_variant BRCA-EU 12 113532016 113532016 single base substitution C T upstream_gene_variant BRCA-EU 12 113532414 113532424 deletion of <=200bp AAGAAGAAGAA - intron_variant BRCA-EU 12 113532414 113532424 deletion of <=200bp AAGAAGAAGAA - upstream_gene_variant BRCA-EU 12 113533847 113533847 single base substitution C A downstream_gene_variant BRCA-EU 12 113533847 113533847 single base substitution C A intron_variant BRCA-EU 12 113534429 113534429 single base substitution G A downstream_gene_variant BRCA-EU 12 113534429 113534429 single base substitution G A intron_variant BRCA-EU 12 113534723 113534723 single base substitution C T downstream_gene_variant BRCA-EU 12 113534723 113534723 single base substitution C T exon_variant BRCA-EU 12 113534723 113534723 single base substitution C T synonymous_variant S614S 1842C>T BRCA-EU 12 113534885 113534885 single base substitution G A 3_prime_UTR_variant BRCA-EU 12 113534885 113534885 single base substitution G A downstream_gene_variant BRCA-EU 12 113534885 113534885 single base substitution G A exon_variant BRCA-EU 12 113535102 113535102 single base substitution G A 3_prime_UTR_variant BRCA-EU 12 113535102 113535102 single base substitution G A downstream_gene_variant BRCA-EU 12 113535102 113535102 single base substitution G A exon_variant BRCA-EU 12 113536274 113536274 single base substitution G T downstream_gene_variant BRCA-EU 12 113538025 113538025 single base substitution T C downstream_gene_variant BRCA-EU 12 113538115 113538115 deletion of <=200bp G - downstream_gene_variant BRCA-EU 12 113538599 113538599 insertion of <=200bp - CAT downstream_gene_variant BRCA-EU 12 113538649 113538649 single base substitution C G downstream_gene_variant BRCA-EU 12 113539245 113539245 single base substitution T A downstream_gene_variant BRCA-EU 12 113540463 113540463 single base substitution G A downstream_gene_variant BRCA-FR 12 113494113 113494113 single base substitution G A upstream_gene_variant BRCA-FR 12 113496701 113496701 single base substitution G C downstream_gene_variant BRCA-FR 12 113496701 113496701 single base substitution G C intron_variant BRCA-FR 12 113513935 113513935 single base substitution G A intron_variant BRCA-FR 12 113514461 113514461 single base substitution A G intron_variant BRCA-FR 12 113519814 113519814 single base substitution C G intron_variant BRCA-FR 12 113520474 113520474 single base substitution C A intron_variant BRCA-FR 12 113521423 113521423 single base substitution G A intron_variant BRCA-FR 12 113522221 113522221 single base substitution C T intron_variant BRCA-FR 12 113526251 113526251 single base substitution C T intron_variant BRCA-FR 12 113526251 113526251 single base substitution C T upstream_gene_variant BRCA-FR 12 113530544 113530544 single base substitution C T intron_variant BRCA-FR 12 113530544 113530544 single base substitution C T upstream_gene_variant BRCA-UK 12 113499905 113499905 single base substitution C T downstream_gene_variant BRCA-UK 12 113499905 113499905 single base substitution C T intron_variant BRCA-US 12 113496004 113496004 single base substitution C G downstream_gene_variant BRCA-US 12 113496004 113496004 single base substitution C G missense_variant R3G 7C>G BRCA-US 12 113515419 113515419 single base substitution C T synonymous_variant L150L 450C>T BRCA-US 12 113515623 113515623 single base substitution C G missense_variant I218M 654C>G BRCA-US 12 113515624 113515624 single base substitution C T synonymous_variant L219L 655C>T BRCA-US 12 113530988 113530988 single base substitution G A exon_variant BRCA-US 12 113530988 113530988 single base substitution G A synonymous_variant K321K 963G>A BRCA-US 12 113530988 113530988 single base substitution G A upstream_gene_variant BRCA-US 12 113532664 113532664 single base substitution T A exon_variant BRCA-US 12 113532664 113532664 single base substitution T A missense_variant V433E 1298T>A BRCA-US 12 113532664 113532664 single base substitution T A upstream_gene_variant BRCA-US 12 113533262 113533262 deletion of <=200bp G - downstream_gene_variant BRCA-US 12 113533262 113533262 deletion of <=200bp G - exon_variant BRCA-US 12 113533262 113533262 deletion of <=200bp G - intron_variant BRCA-US 12 113533346 113533346 single base substitution G A downstream_gene_variant BRCA-US 12 113533346 113533346 single base substitution G A exon_variant BRCA-US 12 113533346 113533346 single base substitution G A intron_variant BRCA-US 12 113534596 113534596 single base substitution C A downstream_gene_variant BRCA-US 12 113534596 113534596 single base substitution C A exon_variant BRCA-US 12 113534596 113534596 single base substitution C A stop_gained S572* 1715C>A BTCA-JP 12 113496196 113496196 single base substitution G A downstream_gene_variant BTCA-JP 12 113496196 113496196 single base substitution G A missense_variant A67T 199G>A BTCA-JP 12 113515813 113515813 single base substitution G A missense_variant A282T 844G>A BTCA-JP 12 113531933 113531949 deletion of <=200bp GGGCCCTGGCATGGAGG - intron_variant BTCA-JP 12 113531933 113531949 deletion of <=200bp GGGCCCTGGCATGGAGG - upstream_gene_variant BTCA-JP 12 113532897 113532897 single base substitution G A downstream_gene_variant BTCA-JP 12 113532897 113532897 single base substitution G A exon_variant BTCA-JP 12 113532897 113532897 single base substitution G A synonymous_variant T479T 1437G>A BTCA-JP 12 113537759 113537759 single base substitution G A downstream_gene_variant CESC-US 12 113531867 113531867 single base substitution G T exon_variant CESC-US 12 113531867 113531867 single base substitution G T missense_variant R397L 1190G>T CESC-US 12 113531867 113531867 single base substitution G T upstream_gene_variant CESC-US 12 113533237 113533237 single base substitution A G downstream_gene_variant CESC-US 12 113533237 113533237 single base substitution A G exon_variant CESC-US 12 113533237 113533237 single base substitution A G intron_variant CESC-US 12 113534597 113534597 single base substitution G C downstream_gene_variant CESC-US 12 113534597 113534597 single base substitution G C exon_variant CESC-US 12 113534597 113534597 single base substitution G C synonymous_variant S572S 1716G>C CESC-US 12 113537723 113537723 single base substitution C G downstream_gene_variant CESC-US 12 113537812 113537812 single base substitution G A downstream_gene_variant CLLE-ES 12 113494543 113494543 single base substitution G C exon_variant CLLE-ES 12 113494543 113494543 single base substitution G C upstream_gene_variant CLLE-ES 12 113494561 113494561 single base substitution C T exon_variant CLLE-ES 12 113494561 113494561 single base substitution C T upstream_gene_variant CLLE-ES 12 113494824 113494824 single base substitution G C intron_variant CLLE-ES 12 113494824 113494824 single base substitution G C upstream_gene_variant CLLE-ES 12 113494950 113494950 single base substitution G A intron_variant CLLE-ES 12 113494950 113494950 single base substitution G A upstream_gene_variant CLLE-ES 12 113495092 113495092 single base substitution C A intron_variant CLLE-ES 12 113495092 113495092 single base substitution C A upstream_gene_variant CLLE-ES 12 113495263 113495263 single base substitution A C exon_variant CLLE-ES 12 113495263 113495263 single base substitution A C upstream_gene_variant CLLE-ES 12 113495412 113495412 single base substitution G A exon_variant CLLE-ES 12 113495412 113495412 single base substitution G A upstream_gene_variant CLLE-ES 12 113495653 113495653 single base substitution G T 5_prime_UTR_variant CLLE-ES 12 113495653 113495653 single base substitution G T exon_variant CLLE-ES 12 113495724 113495724 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant CLLE-ES 12 113495724 113495724 single base substitution C T exon_variant CLLE-ES 12 113495726 113495726 single base substitution G A 5_prime_UTR_variant CLLE-ES 12 113495726 113495726 single base substitution G A exon_variant CLLE-ES 12 113495998 113495998 single base substitution A T downstream_gene_variant CLLE-ES 12 113495998 113495998 single base substitution A T initiator_codon_variant M1L 1A>T CLLE-ES 12 113496087 113496087 single base substitution G A downstream_gene_variant CLLE-ES 12 113496087 113496087 single base substitution G A stop_gained W30* 90G>A CLLE-ES 12 113496968 113496968 single base substitution T C downstream_gene_variant CLLE-ES 12 113496968 113496968 single base substitution T C intron_variant CLLE-ES 12 113500769 113500769 single base substitution C G downstream_gene_variant CLLE-ES 12 113500769 113500769 single base substitution C G intron_variant CLLE-ES 12 113501302 113501302 single base substitution C T intron_variant CLLE-ES 12 113509087 113509087 single base substitution T G intron_variant CLLE-ES 12 113511450 113511450 single base substitution G C intron_variant CLLE-ES 12 113536721 113536721 insertion of <=200bp - T downstream_gene_variant COAD-US 12 113496127 113496127 single base substitution G A downstream_gene_variant COAD-US 12 113496127 113496127 single base substitution G A missense_variant V44M 130G>A COAD-US 12 113515269 113515269 single base substitution G A synonymous_variant S100S 300G>A COAD-US 12 113515332 113515332 single base substitution C T synonymous_variant Y121Y 363C>T COAD-US 12 113532617 113532617 single base substitution A G exon_variant COAD-US 12 113532617 113532617 single base substitution A G synonymous_variant R417R 1251A>G COAD-US 12 113532617 113532617 single base substitution A G upstream_gene_variant COAD-US 12 113532885 113532885 single base substitution C T downstream_gene_variant COAD-US 12 113532885 113532885 single base substitution C T exon_variant COAD-US 12 113532885 113532885 single base substitution C T synonymous_variant Y475Y 1425C>T COAD-US 12 113532977 113532977 single base substitution G A downstream_gene_variant COAD-US 12 113532977 113532977 single base substitution G A exon_variant COAD-US 12 113532977 113532977 single base substitution G A missense_variant R506H 1517G>A COAD-US 12 113533198 113533198 single base substitution C A downstream_gene_variant COAD-US 12 113533198 113533198 single base substitution C A exon_variant COAD-US 12 113533198 113533198 single base substitution C A synonymous_variant P539P 1617C>A COAD-US 12 113537773 113537773 single base substitution C T downstream_gene_variant COAD-US 12 113537791 113537791 single base substitution G A downstream_gene_variant COCA-CN 12 113531295 113531295 single base substitution T C exon_variant COCA-CN 12 113531295 113531295 single base substitution T C intron_variant COCA-CN 12 113531295 113531295 single base substitution T C upstream_gene_variant COCA-CN 12 113531305 113531305 single base substitution A T exon_variant COCA-CN 12 113531305 113531305 single base substitution A T intron_variant COCA-CN 12 113531305 113531305 single base substitution A T upstream_gene_variant COCA-CN 12 113531625 113531625 single base substitution C A intron_variant COCA-CN 12 113531625 113531625 single base substitution C A upstream_gene_variant COCA-CN 12 113531870 113531870 single base substitution G T exon_variant COCA-CN 12 113531870 113531870 single base substitution G T missense_variant R398I 1193G>T COCA-CN 12 113531870 113531870 single base substitution G T upstream_gene_variant COCA-CN 12 113531916 113531916 single base substitution A C intron_variant COCA-CN 12 113531916 113531916 single base substitution A C upstream_gene_variant COCA-CN 12 113533311 113533311 single base substitution T G downstream_gene_variant COCA-CN 12 113533311 113533311 single base substitution T G exon_variant COCA-CN 12 113533311 113533311 single base substitution T G intron_variant COCA-CN 12 113534642 113534642 single base substitution A G downstream_gene_variant COCA-CN 12 113534642 113534642 single base substitution A G exon_variant COCA-CN 12 113534642 113534642 single base substitution A G synonymous_variant G587G 1761A>G COCA-CN 12 113534669 113534669 single base substitution G A downstream_gene_variant COCA-CN 12 113534669 113534669 single base substitution G A exon_variant COCA-CN 12 113534669 113534669 single base substitution G A synonymous_variant P596P 1788G>A COCA-CN 12 113534803 113534803 single base substitution C T 3_prime_UTR_variant COCA-CN 12 113534803 113534803 single base substitution C T downstream_gene_variant COCA-CN 12 113534803 113534803 single base substitution C T exon_variant EOPC-DE 12 113498079 113498079 single base substitution G T downstream_gene_variant EOPC-DE 12 113498079 113498079 single base substitution G T intron_variant ESAD-UK 12 113490119 113490119 single base substitution C T upstream_gene_variant ESAD-UK 12 113490533 113490533 single base substitution C T upstream_gene_variant ESAD-UK 12 113491485 113491485 single base substitution A C upstream_gene_variant ESAD-UK 12 113492932 113492932 single base substitution T A upstream_gene_variant ESAD-UK 12 113494970 113494970 single base substitution G A intron_variant ESAD-UK 12 113494970 113494970 single base substitution G A upstream_gene_variant ESAD-UK 12 113495278 113495278 single base substitution C T exon_variant ESAD-UK 12 113495278 113495278 single base substitution C T upstream_gene_variant ESAD-UK 12 113497251 113497251 single base substitution A T downstream_gene_variant ESAD-UK 12 113497251 113497251 single base substitution A T intron_variant ESAD-UK 12 113498557 113498557 single base substitution T C downstream_gene_variant ESAD-UK 12 113498557 113498557 single base substitution T C intron_variant ESAD-UK 12 113501219 113501219 single base substitution A G intron_variant ESAD-UK 12 113502758 113502758 single base substitution C T intron_variant ESAD-UK 12 113503536 113503536 single base substitution C T intron_variant ESAD-UK 12 113504268 113504268 single base substitution G C intron_variant ESAD-UK 12 113504878 113504878 single base substitution C T intron_variant ESAD-UK 12 113515674 113515674 single base substitution G A synonymous_variant P235P 705G>A ESAD-UK 12 113516180 113516180 single base substitution G A intron_variant ESAD-UK 12 113519806 113519806 single base substitution A C intron_variant ESAD-UK 12 113522174 113522174 single base substitution C T intron_variant ESAD-UK 12 113522955 113522955 single base substitution A C intron_variant ESAD-UK 12 113522955 113522955 single base substitution A C upstream_gene_variant ESAD-UK 12 113524257 113524257 single base substitution G C intron_variant ESAD-UK 12 113524257 113524257 single base substitution G C upstream_gene_variant ESAD-UK 12 113532302 113532302 single base substitution G C intron_variant ESAD-UK 12 113532302 113532302 single base substitution G C upstream_gene_variant ESAD-UK 12 113536002 113536002 single base substitution C T downstream_gene_variant ESAD-UK 12 113536314 113536314 single base substitution A T downstream_gene_variant ESCA-CN 12 113531369 113531369 single base substitution G A exon_variant ESCA-CN 12 113531369 113531369 single base substitution G A synonymous_variant A343A 1029G>A ESCA-CN 12 113531369 113531369 single base substitution G A upstream_gene_variant GBM-US 12 113515335 113515335 single base substitution T G missense_variant D122E 366T>G KIRC-US 12 113515329 113515329 single base substitution C A synonymous_variant A120A 360C>A KIRC-US 12 113531851 113531851 single base substitution C G exon_variant KIRC-US 12 113531851 113531851 single base substitution C G missense_variant P392A 1174C>G KIRC-US 12 113531851 113531851 single base substitution C G upstream_gene_variant KIRC-US 12 113531890 113531890 single base substitution A C exon_variant KIRC-US 12 113531890 113531890 single base substitution A C missense_variant N405H 1213A>C KIRC-US 12 113531890 113531890 single base substitution A C upstream_gene_variant KIRP-US 12 113534672 113534672 single base substitution C T downstream_gene_variant KIRP-US 12 113534672 113534672 single base substitution C T exon_variant KIRP-US 12 113534672 113534672 single base substitution C T synonymous_variant D597D 1791C>T LAML-KR 12 113496120 113496120 single base substitution G A downstream_gene_variant LAML-KR 12 113496120 113496120 single base substitution G A synonymous_variant T41T 123G>A LGG-US 12 113515358 113515358 single base substitution A G missense_variant Q130R 389A>G LGG-US 12 113539707 113539707 single base substitution G A downstream_gene_variant LICA-CN 12 113533203 113533203 single base substitution A C downstream_gene_variant LICA-CN 12 113533203 113533203 single base substitution A C exon_variant LICA-CN 12 113533203 113533203 single base substitution A C missense_variant N541T 1622A>C LICA-FR 12 113515832 113515832 single base substitution C A missense_variant T288N 863C>A LICA-FR 12 113516239 113516239 single base substitution C T intron_variant LICA-FR 12 113518424 113518424 insertion of <=200bp - GGAAT intron_variant LICA-FR 12 113528938 113528938 single base substitution T G intron_variant LICA-FR 12 113528938 113528938 single base substitution T G upstream_gene_variant LICA-FR 12 113532598 113532598 single base substitution G A exon_variant LICA-FR 12 113532598 113532598 single base substitution G A missense_variant C411Y 1232G>A LICA-FR 12 113532598 113532598 single base substitution G A upstream_gene_variant LICA-FR 12 113533138 113533138 single base substitution G T downstream_gene_variant LICA-FR 12 113533138 113533138 single base substitution G T exon_variant LICA-FR 12 113533138 113533138 single base substitution G T missense_variant E519D 1557G>T LICA-FR 12 113534010 113534010 insertion of <=200bp - A downstream_gene_variant LICA-FR 12 113534010 113534010 insertion of <=200bp - A intron_variant LICA-FR 12 113534603 113534603 single base substitution C T downstream_gene_variant LICA-FR 12 113534603 113534603 single base substitution C T exon_variant LICA-FR 12 113534603 113534603 single base substitution C T synonymous_variant T574T 1722C>T LICA-FR 12 113539638 113539638 single base substitution G A downstream_gene_variant LINC-JP 12 113520827 113520827 single base substitution A G intron_variant LINC-JP 12 113533176 113533176 single base substitution T G downstream_gene_variant LINC-JP 12 113533176 113533176 single base substitution T G exon_variant LINC-JP 12 113533176 113533176 single base substitution T G missense_variant F532C 1595T>G LINC-JP 12 113534263 113534263 single base substitution A G downstream_gene_variant LINC-JP 12 113534263 113534263 single base substitution A G intron_variant LINC-JP 12 113539869 113539869 deletion of <=200bp C - downstream_gene_variant LIRI-JP 12 113491455 113491455 single base substitution C T upstream_gene_variant LIRI-JP 12 113496168 113496168 single base substitution C G downstream_gene_variant LIRI-JP 12 113496168 113496168 single base substitution C G synonymous_variant R57R 171C>G LIRI-JP 12 113497560 113497560 single base substitution C A downstream_gene_variant LIRI-JP 12 113497560 113497560 single base substitution C A intron_variant LIRI-JP 12 113500190 113500190 single base substitution T G downstream_gene_variant LIRI-JP 12 113500190 113500190 single base substitution T G intron_variant LIRI-JP 12 113500553 113500553 single base substitution G C downstream_gene_variant LIRI-JP 12 113500553 113500553 single base substitution G C intron_variant LIRI-JP 12 113500773 113500773 single base substitution G A downstream_gene_variant LIRI-JP 12 113500773 113500773 single base substitution G A intron_variant LIRI-JP 12 113502332 113502332 single base substitution C A intron_variant LIRI-JP 12 113502810 113502810 single base substitution G T intron_variant LIRI-JP 12 113503953 113503953 single base substitution G T intron_variant LIRI-JP 12 113504970 113504970 single base substitution C T intron_variant LIRI-JP 12 113509134 113509134 single base substitution C A intron_variant LIRI-JP 12 113509728 113509728 single base substitution A T intron_variant LIRI-JP 12 113511822 113511822 single base substitution G C intron_variant LIRI-JP 12 113512134 113512134 single base substitution A G intron_variant LIRI-JP 12 113513313 113513313 single base substitution C T intron_variant LIRI-JP 12 113513333 113513333 single base substitution G A intron_variant LIRI-JP 12 113519015 113519015 single base substitution G T intron_variant LIRI-JP 12 113527334 113527334 single base substitution A G intron_variant LIRI-JP 12 113527334 113527334 single base substitution A G upstream_gene_variant LIRI-JP 12 113527951 113527951 single base substitution A G intron_variant LIRI-JP 12 113527951 113527951 single base substitution A G upstream_gene_variant LIRI-JP 12 113532413 113532415 deletion of <=200bp GAA - intron_variant LIRI-JP 12 113532413 113532415 deletion of <=200bp GAA - upstream_gene_variant LIRI-JP 12 113533168 113533168 single base substitution A G downstream_gene_variant LIRI-JP 12 113533168 113533168 single base substitution A G exon_variant LIRI-JP 12 113533168 113533168 single base substitution A G synonymous_variant A529A 1587A>G LIRI-JP 12 113533868 113533868 single base substitution G A downstream_gene_variant LIRI-JP 12 113533868 113533868 single base substitution G A intron_variant LIRI-JP 12 113534547 113534547 single base substitution G T downstream_gene_variant LIRI-JP 12 113534547 113534547 single base substitution G T exon_variant LIRI-JP 12 113534547 113534547 single base substitution G T stop_gained E556* 1666G>T LIRI-JP 12 113534919 113534919 single base substitution G T 3_prime_UTR_variant LIRI-JP 12 113534919 113534919 single base substitution G T downstream_gene_variant LIRI-JP 12 113534919 113534919 single base substitution G T exon_variant LIRI-JP 12 113536281 113536281 single base substitution C T downstream_gene_variant LIRI-JP 12 113536363 113536363 single base substitution T C downstream_gene_variant LIRI-JP 12 113537550 113537550 single base substitution C T downstream_gene_variant LUSC-KR 12 113493694 113493694 single base substitution C G upstream_gene_variant LUSC-KR 12 113495220 113495220 single base substitution T A intron_variant LUSC-KR 12 113495220 113495220 single base substitution T A upstream_gene_variant LUSC-KR 12 113495594 113495594 single base substitution C T 5_prime_UTR_variant LUSC-KR 12 113495594 113495594 single base substitution C T exon_variant LUSC-KR 12 113497431 113497431 single base substitution G C downstream_gene_variant LUSC-KR 12 113497431 113497431 single base substitution G C intron_variant LUSC-KR 12 113499744 113499744 single base substitution C G downstream_gene_variant LUSC-KR 12 113499744 113499744 single base substitution C G intron_variant LUSC-KR 12 113501127 113501127 single base substitution G T intron_variant LUSC-KR 12 113501872 113501872 single base substitution G T intron_variant LUSC-KR 12 113501880 113501880 single base substitution G T intron_variant LUSC-KR 12 113502530 113502530 single base substitution G A intron_variant LUSC-KR 12 113503445 113503445 single base substitution A C intron_variant LUSC-KR 12 113506635 113506635 single base substitution C G intron_variant LUSC-KR 12 113507438 113507438 single base substitution C G intron_variant LUSC-KR 12 113508212 113508212 single base substitution G T intron_variant LUSC-KR 12 113511263 113511263 single base substitution T A intron_variant LUSC-KR 12 113511337 113511337 single base substitution C A intron_variant LUSC-KR 12 113512306 113512306 single base substitution G T intron_variant LUSC-KR 12 113514868 113514868 single base substitution A G intron_variant LUSC-KR 12 113515496 113515496 single base substitution C A missense_variant A176D 527C>A LUSC-KR 12 113517964 113517964 single base substitution G A intron_variant LUSC-KR 12 113521975 113521975 single base substitution G C intron_variant LUSC-KR 12 113524510 113524510 single base substitution A T intron_variant LUSC-KR 12 113524510 113524510 single base substitution A T upstream_gene_variant LUSC-KR 12 113528509 113528509 single base substitution C T intron_variant LUSC-KR 12 113528509 113528509 single base substitution C T upstream_gene_variant LUSC-KR 12 113528737 113528737 single base substitution C A intron_variant LUSC-KR 12 113528737 113528737 single base substitution C A upstream_gene_variant LUSC-KR 12 113531061 113531061 single base substitution G A intron_variant LUSC-KR 12 113531061 113531061 single base substitution G A upstream_gene_variant LUSC-KR 12 113532761 113532761 single base substitution G T downstream_gene_variant LUSC-KR 12 113532761 113532761 single base substitution G T intron_variant LUSC-KR 12 113532761 113532761 single base substitution G T upstream_gene_variant LUSC-KR 12 113539183 113539183 single base substitution T C downstream_gene_variant LUSC-KR 12 113540350 113540350 single base substitution G A downstream_gene_variant LUSC-US 12 113531399 113531399 single base substitution C G exon_variant LUSC-US 12 113531399 113531399 single base substitution C G synonymous_variant A353A 1059C>G LUSC-US 12 113531399 113531399 single base substitution C G upstream_gene_variant LUSC-US 12 113539713 113539713 single base substitution G A downstream_gene_variant MALY-DE 12 113492417 113492417 single base substitution C A upstream_gene_variant MALY-DE 12 113493342 113493342 single base substitution C T upstream_gene_variant MALY-DE 12 113493375 113493375 single base substitution A G upstream_gene_variant MALY-DE 12 113493376 113493376 single base substitution G T upstream_gene_variant MALY-DE 12 113493802 113493802 single base substitution C T upstream_gene_variant MALY-DE 12 113493803 113493803 single base substitution C G upstream_gene_variant MALY-DE 12 113493814 113493827 deletion of <=200bp CACCATTTATTGAG - upstream_gene_variant MALY-DE 12 113493864 113493864 single base substitution A G upstream_gene_variant MALY-DE 12 113493927 113493927 single base substitution C A upstream_gene_variant MALY-DE 12 113493966 113493966 single base substitution A T upstream_gene_variant MALY-DE 12 113493992 113493992 single base substitution A G upstream_gene_variant MALY-DE 12 113494067 113494067 single base substitution C T upstream_gene_variant MALY-DE 12 113494076 113494076 single base substitution G A upstream_gene_variant MALY-DE 12 113494097 113494097 single base substitution C T upstream_gene_variant MALY-DE 12 113494152 113494152 single base substitution C G upstream_gene_variant MALY-DE 12 113494167 113494167 single base substitution G A upstream_gene_variant MALY-DE 12 113494186 113494186 single base substitution C T upstream_gene_variant MALY-DE 12 113494204 113494204 single base substitution A G upstream_gene_variant MALY-DE 12 113494243 113494243 single base substitution T C upstream_gene_variant MALY-DE 12 113494251 113494251 single base substitution T C upstream_gene_variant MALY-DE 12 113494321 113494321 single base substitution C T upstream_gene_variant MALY-DE 12 113494328 113494328 single base substitution C T upstream_gene_variant MALY-DE 12 113494339 113494339 single base substitution C G upstream_gene_variant MALY-DE 12 113494480 113494480 single base substitution C T upstream_gene_variant MALY-DE 12 113494545 113494545 single base substitution T C exon_variant MALY-DE 12 113494545 113494545 single base substitution T C upstream_gene_variant MALY-DE 12 113494546 113494546 single base substitution C T exon_variant MALY-DE 12 113494546 113494546 single base substitution C T upstream_gene_variant MALY-DE 12 113494561 113494561 single base substitution C T exon_variant MALY-DE 12 113494561 113494561 single base substitution C T upstream_gene_variant MALY-DE 12 113494611 113494611 single base substitution G A exon_variant MALY-DE 12 113494611 113494611 single base substitution G A upstream_gene_variant MALY-DE 12 113494612 113494612 single base substitution C T exon_variant MALY-DE 12 113494612 113494612 single base substitution C T upstream_gene_variant MALY-DE 12 113494616 113494616 single base substitution G A exon_variant MALY-DE 12 113494616 113494616 single base substitution G A upstream_gene_variant MALY-DE 12 113494632 113494632 single base substitution G A exon_variant MALY-DE 12 113494632 113494632 single base substitution G A upstream_gene_variant MALY-DE 12 113494640 113494640 single base substitution G A exon_variant MALY-DE 12 113494640 113494640 single base substitution G A upstream_gene_variant MALY-DE 12 113494641 113494641 single base substitution G A exon_variant MALY-DE 12 113494641 113494641 single base substitution G A upstream_gene_variant MALY-DE 12 113494667 113494667 single base substitution G A exon_variant MALY-DE 12 113494667 113494667 single base substitution G A upstream_gene_variant MALY-DE 12 113494705 113494705 single base substitution T C exon_variant MALY-DE 12 113494705 113494705 single base substitution T C upstream_gene_variant MALY-DE 12 113494725 113494725 single base substitution C T exon_variant MALY-DE 12 113494725 113494725 single base substitution C T upstream_gene_variant MALY-DE 12 113494752 113494752 single base substitution G A intron_variant MALY-DE 12 113494752 113494752 single base substitution G A upstream_gene_variant MALY-DE 12 113494754 113494754 single base substitution G A intron_variant MALY-DE 12 113494754 113494754 single base substitution G A upstream_gene_variant MALY-DE 12 113494764 113494764 single base substitution G A intron_variant MALY-DE 12 113494764 113494764 single base substitution G A upstream_gene_variant MALY-DE 12 113494770 113494770 single base substitution G A intron_variant MALY-DE 12 113494770 113494770 single base substitution G A upstream_gene_variant MALY-DE 12 113494772 113494772 single base substitution A G intron_variant MALY-DE 12 113494772 113494772 single base substitution A G upstream_gene_variant MALY-DE 12 113494778 113494778 single base substitution C T intron_variant MALY-DE 12 113494778 113494778 single base substitution C T upstream_gene_variant MALY-DE 12 113494779 113494779 single base substitution C T intron_variant MALY-DE 12 113494779 113494779 single base substitution C T upstream_gene_variant MALY-DE 12 113494780 113494780 single base substitution C T intron_variant MALY-DE 12 113494780 113494780 single base substitution C T upstream_gene_variant MALY-DE 12 113494784 113494784 single base substitution G A intron_variant MALY-DE 12 113494784 113494784 single base substitution G A upstream_gene_variant MALY-DE 12 113494789 113494789 single base substitution C T intron_variant MALY-DE 12 113494789 113494789 single base substitution C T upstream_gene_variant MALY-DE 12 113494792 113494792 single base substitution T G intron_variant MALY-DE 12 113494792 113494792 single base substitution T G upstream_gene_variant MALY-DE 12 113494806 113494806 single base substitution C T intron_variant MALY-DE 12 113494806 113494806 single base substitution C T upstream_gene_variant MALY-DE 12 113494811 113494811 single base substitution C T intron_variant MALY-DE 12 113494811 113494811 single base substitution C T upstream_gene_variant MALY-DE 12 113494841 113494841 single base substitution G A intron_variant MALY-DE 12 113494841 113494841 single base substitution G A upstream_gene_variant MALY-DE 12 113494845 113494845 single base substitution C T intron_variant MALY-DE 12 113494845 113494845 single base substitution C T upstream_gene_variant MALY-DE 12 113494874 113494874 single base substitution G C intron_variant MALY-DE 12 113494874 113494874 single base substitution G C upstream_gene_variant MALY-DE 12 113494875 113494875 single base substitution C T intron_variant MALY-DE 12 113494875 113494875 single base substitution C T upstream_gene_variant MALY-DE 12 113494944 113494944 single base substitution C T intron_variant MALY-DE 12 113494944 113494944 single base substitution C T upstream_gene_variant MALY-DE 12 113494951 113494951 single base substitution C G intron_variant MALY-DE 12 113494951 113494951 single base substitution C G upstream_gene_variant MALY-DE 12 113494951 113494951 single base substitution C T intron_variant MALY-DE 12 113494951 113494951 single base substitution C T upstream_gene_variant MALY-DE 12 113494969 113494969 single base substitution C G intron_variant MALY-DE 12 113494969 113494969 single base substitution C G upstream_gene_variant MALY-DE 12 113495010 113495010 single base substitution A G intron_variant MALY-DE 12 113495010 113495010 single base substitution A G upstream_gene_variant MALY-DE 12 113495017 113495017 single base substitution G A intron_variant MALY-DE 12 113495017 113495017 single base substitution G A upstream_gene_variant MALY-DE 12 113495018 113495018 single base substitution C T intron_variant MALY-DE 12 113495018 113495018 single base substitution C T upstream_gene_variant MALY-DE 12 113495060 113495060 single base substitution G A intron_variant MALY-DE 12 113495060 113495060 single base substitution G A upstream_gene_variant MALY-DE 12 113495089 113495089 single base substitution C G intron_variant MALY-DE 12 113495089 113495089 single base substitution C G upstream_gene_variant MALY-DE 12 113495108 113495108 single base substitution G A intron_variant MALY-DE 12 113495108 113495108 single base substitution G A upstream_gene_variant MALY-DE 12 113495129 113495129 single base substitution G T intron_variant MALY-DE 12 113495129 113495129 single base substitution G T upstream_gene_variant MALY-DE 12 113495142 113495142 single base substitution G A intron_variant MALY-DE 12 113495142 113495142 single base substitution G A upstream_gene_variant MALY-DE 12 113495143 113495143 single base substitution C A intron_variant MALY-DE 12 113495143 113495143 single base substitution C A upstream_gene_variant MALY-DE 12 113495143 113495143 single base substitution C G intron_variant MALY-DE 12 113495143 113495143 single base substitution C G upstream_gene_variant MALY-DE 12 113495200 113495200 insertion of <=200bp - G intron_variant MALY-DE 12 113495200 113495200 insertion of <=200bp - G upstream_gene_variant MALY-DE 12 113495212 113495212 single base substitution C T intron_variant MALY-DE 12 113495212 113495212 single base substitution C T upstream_gene_variant MALY-DE 12 113495247 113495247 single base substitution C T intron_variant MALY-DE 12 113495247 113495247 single base substitution C T upstream_gene_variant MALY-DE 12 113495250 113495250 single base substitution G A intron_variant MALY-DE 12 113495250 113495250 single base substitution G A upstream_gene_variant MALY-DE 12 113495250 113495250 single base substitution G C intron_variant MALY-DE 12 113495250 113495250 single base substitution G C upstream_gene_variant MALY-DE 12 113495253 113495253 single base substitution G A splice_acceptor_variant MALY-DE 12 113495253 113495253 single base substitution G A upstream_gene_variant MALY-DE 12 113495271 113495271 single base substitution G A exon_variant MALY-DE 12 113495271 113495271 single base substitution G A upstream_gene_variant MALY-DE 12 113495277 113495277 single base substitution G T exon_variant MALY-DE 12 113495277 113495277 single base substitution G T upstream_gene_variant MALY-DE 12 113495301 113495301 single base substitution C G exon_variant MALY-DE 12 113495301 113495301 single base substitution C G upstream_gene_variant MALY-DE 12 113495307 113495307 single base substitution C T exon_variant MALY-DE 12 113495307 113495307 single base substitution C T upstream_gene_variant MALY-DE 12 113495326 113495326 single base substitution G C exon_variant MALY-DE 12 113495326 113495326 single base substitution G C upstream_gene_variant MALY-DE 12 113495327 113495327 single base substitution C T exon_variant MALY-DE 12 113495327 113495327 single base substitution C T upstream_gene_variant MALY-DE 12 113495335 113495335 single base substitution C T exon_variant MALY-DE 12 113495335 113495335 single base substitution C T upstream_gene_variant MALY-DE 12 113495349 113495349 single base substitution C G exon_variant MALY-DE 12 113495349 113495349 single base substitution C G upstream_gene_variant MALY-DE 12 113495380 113495380 single base substitution C T exon_variant MALY-DE 12 113495380 113495380 single base substitution C T upstream_gene_variant MALY-DE 12 113495390 113495390 single base substitution C G exon_variant MALY-DE 12 113495390 113495390 single base substitution C G upstream_gene_variant MALY-DE 12 113495409 113495409 single base substitution C T exon_variant MALY-DE 12 113495409 113495409 single base substitution C T upstream_gene_variant MALY-DE 12 113495410 113495410 single base substitution C T exon_variant MALY-DE 12 113495410 113495410 single base substitution C T upstream_gene_variant MALY-DE 12 113495417 113495417 single base substitution C T exon_variant MALY-DE 12 113495417 113495417 single base substitution C T upstream_gene_variant MALY-DE 12 113495428 113495428 single base substitution G A exon_variant MALY-DE 12 113495428 113495428 single base substitution G A upstream_gene_variant MALY-DE 12 113495428 113495428 single base substitution G T exon_variant MALY-DE 12 113495428 113495428 single base substitution G T upstream_gene_variant MALY-DE 12 113495438 113495438 single base substitution G C exon_variant MALY-DE 12 113495438 113495438 single base substitution G C upstream_gene_variant MALY-DE 12 113495469 113495469 single base substitution G A exon_variant MALY-DE 12 113495469 113495469 single base substitution G A upstream_gene_variant MALY-DE 12 113495486 113495486 single base substitution C T exon_variant MALY-DE 12 113495486 113495486 single base substitution C T upstream_gene_variant MALY-DE 12 113495502 113495502 single base substitution G A 5_prime_UTR_variant MALY-DE 12 113495502 113495502 single base substitution G A exon_variant MALY-DE 12 113495514 113495514 single base substitution C T 5_prime_UTR_variant MALY-DE 12 113495514 113495514 single base substitution C T exon_variant MALY-DE 12 113495518 113495518 single base substitution G T 5_prime_UTR_variant MALY-DE 12 113495518 113495518 single base substitution G T exon_variant MALY-DE 12 113495526 113495526 single base substitution T C 5_prime_UTR_variant MALY-DE 12 113495526 113495526 single base substitution T C exon_variant MALY-DE 12 113495541 113495541 single base substitution G A 5_prime_UTR_variant MALY-DE 12 113495541 113495541 single base substitution G A exon_variant MALY-DE 12 113495546 113495546 single base substitution G A 5_prime_UTR_variant MALY-DE 12 113495546 113495546 single base substitution G A exon_variant MALY-DE 12 113495547 113495547 single base substitution C T 5_prime_UTR_variant MALY-DE 12 113495547 113495547 single base substitution C T exon_variant MALY-DE 12 113495548 113495548 single base substitution A T 5_prime_UTR_variant MALY-DE 12 113495548 113495548 single base substitution A T exon_variant MALY-DE 12 113495557 113495557 single base substitution G A 5_prime_UTR_variant MALY-DE 12 113495557 113495557 single base substitution G A exon_variant MALY-DE 12 113495565 113495565 single base substitution C A 5_prime_UTR_variant MALY-DE 12 113495565 113495565 single base substitution C A exon_variant MALY-DE 12 113495565 113495565 single base substitution C G 5_prime_UTR_variant MALY-DE 12 113495565 113495565 single base substitution C G exon_variant MALY-DE 12 113495570 113495570 single base substitution G A 5_prime_UTR_variant MALY-DE 12 113495570 113495570 single base substitution G A exon_variant MALY-DE 12 113495576 113495576 single base substitution G A 5_prime_UTR_variant MALY-DE 12 113495576 113495576 single base substitution G A exon_variant MALY-DE 12 113495581 113495581 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MALY-DE 12 113495581 113495581 single base substitution C T exon_variant MALY-DE 12 113495623 113495623 single base substitution G A 5_prime_UTR_variant MALY-DE 12 113495623 113495623 single base substitution G A exon_variant MALY-DE 12 113495643 113495643 single base substitution C A 5_prime_UTR_variant MALY-DE 12 113495643 113495643 single base substitution C A exon_variant MALY-DE 12 113495649 113495649 single base substitution A G 5_prime_UTR_variant MALY-DE 12 113495649 113495649 single base substitution A G exon_variant MALY-DE 12 113495649 113495649 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant MALY-DE 12 113495649 113495649 single base substitution A T exon_variant MALY-DE 12 113495660 113495660 single base substitution C G 5_prime_UTR_variant MALY-DE 12 113495660 113495660 single base substitution C G exon_variant MALY-DE 12 113495695 113495695 single base substitution G C 5_prime_UTR_variant MALY-DE 12 113495695 113495695 single base substitution G C exon_variant MALY-DE 12 113495696 113495696 single base substitution C T 5_prime_UTR_variant MALY-DE 12 113495696 113495696 single base substitution C T exon_variant MALY-DE 12 113495700 113495700 single base substitution C T 5_prime_UTR_variant MALY-DE 12 113495700 113495700 single base substitution C T exon_variant MALY-DE 12 113495730 113495730 single base substitution C T 5_prime_UTR_variant MALY-DE 12 113495730 113495730 single base substitution C T exon_variant MALY-DE 12 113495744 113495744 single base substitution G A 5_prime_UTR_variant MALY-DE 12 113495744 113495744 single base substitution G A exon_variant MALY-DE 12 113495767 113495767 single base substitution C T 5_prime_UTR_variant MALY-DE 12 113495767 113495767 single base substitution C T exon_variant MALY-DE 12 113495785 113495785 single base substitution G A 5_prime_UTR_variant MALY-DE 12 113495785 113495785 single base substitution G A exon_variant MALY-DE 12 113495793 113495793 single base substitution G C 5_prime_UTR_variant MALY-DE 12 113495793 113495793 single base substitution G C exon_variant MALY-DE 12 113495806 113495816 deletion of <=200bp TGCAGCCTGGA - 5_prime_UTR_variant MALY-DE 12 113495806 113495816 deletion of <=200bp TGCAGCCTGGA - exon_variant MALY-DE 12 113495814 113495814 single base substitution G A 5_prime_UTR_variant MALY-DE 12 113495814 113495814 single base substitution G A exon_variant MALY-DE 12 113495828 113495828 single base substitution C T 5_prime_UTR_variant MALY-DE 12 113495828 113495828 single base substitution C T exon_variant MALY-DE 12 113495849 113495849 single base substitution T C 5_prime_UTR_variant MALY-DE 12 113495849 113495849 single base substitution T C exon_variant MALY-DE 12 113495866 113495866 single base substitution C T 5_prime_UTR_variant MALY-DE 12 113495866 113495866 single base substitution C T exon_variant MALY-DE 12 113495871 113495871 single base substitution G A 5_prime_UTR_variant MALY-DE 12 113495871 113495871 single base substitution G A exon_variant MALY-DE 12 113495897 113495897 single base substitution G A 5_prime_UTR_variant MALY-DE 12 113495897 113495897 single base substitution G A exon_variant MALY-DE 12 113495916 113495916 single base substitution A G 5_prime_UTR_variant MALY-DE 12 113495916 113495916 single base substitution A G exon_variant MALY-DE 12 113495923 113495923 single base substitution T A 5_prime_UTR_variant MALY-DE 12 113495923 113495923 single base substitution T A exon_variant MALY-DE 12 113495948 113495948 single base substitution G A 5_prime_UTR_variant MALY-DE 12 113495948 113495948 single base substitution G A exon_variant MALY-DE 12 113495951 113495951 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MALY-DE 12 113495951 113495951 single base substitution C T exon_variant MALY-DE 12 113495960 113495960 single base substitution C T 5_prime_UTR_variant MALY-DE 12 113495960 113495960 single base substitution C T downstream_gene_variant MALY-DE 12 113495961 113495961 single base substitution A T 5_prime_UTR_variant MALY-DE 12 113495961 113495961 single base substitution A T downstream_gene_variant MALY-DE 12 113495965 113495965 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant MALY-DE 12 113495965 113495965 single base substitution G C downstream_gene_variant MALY-DE 12 113496006 113496006 single base substitution G A downstream_gene_variant MALY-DE 12 113496006 113496006 single base substitution G A synonymous_variant R3R 9G>A MALY-DE 12 113496028 113496028 single base substitution C A downstream_gene_variant MALY-DE 12 113496028 113496028 single base substitution C A missense_variant P11T 31C>A MALY-DE 12 113496034 113496034 single base substitution A G downstream_gene_variant MALY-DE 12 113496034 113496034 single base substitution A G missense_variant N13D 37A>G MALY-DE 12 113496051 113496051 single base substitution A G downstream_gene_variant MALY-DE 12 113496051 113496051 single base substitution A G synonymous_variant P18P 54A>G MALY-DE 12 113496081 113496081 single base substitution G A downstream_gene_variant MALY-DE 12 113496081 113496081 single base substitution G A stop_gained W28* 84G>A MALY-DE 12 113496085 113496085 single base substitution T G downstream_gene_variant MALY-DE 12 113496085 113496085 single base substitution T G missense_variant W30G 88T>G MALY-DE 12 113496090 113496090 single base substitution G A downstream_gene_variant MALY-DE 12 113496090 113496090 single base substitution G A synonymous_variant L31L 93G>A MALY-DE 12 113496096 113496096 single base substitution G A downstream_gene_variant MALY-DE 12 113496096 113496096 single base substitution G A synonymous_variant E33E 99G>A MALY-DE 12 113496117 113496117 single base substitution C A downstream_gene_variant MALY-DE 12 113496117 113496117 single base substitution C A stop_gained Y40* 120C>A MALY-DE 12 113496131 113496132 deletion of <=200bp GC - downstream_gene_variant MALY-DE 12 113496131 113496132 deletion of <=200bp GC - frameshift_variant C45 MALY-DE 12 113496132 113496132 single base substitution C T downstream_gene_variant MALY-DE 12 113496132 113496132 single base substitution C T synonymous_variant C45C 135C>T MALY-DE 12 113496135 113496135 single base substitution C T downstream_gene_variant MALY-DE 12 113496135 113496135 single base substitution C T synonymous_variant H46H 138C>T MALY-DE 12 113496147 113496147 single base substitution C T downstream_gene_variant MALY-DE 12 113496147 113496147 single base substitution C T synonymous_variant N50N 150C>T MALY-DE 12 113496150 113496150 single base substitution G A downstream_gene_variant MALY-DE 12 113496150 113496150 single base substitution G A synonymous_variant V51V 153G>A MALY-DE 12 113496162 113496162 single base substitution C A downstream_gene_variant MALY-DE 12 113496162 113496162 single base substitution C A missense_variant D55E 165C>A MALY-DE 12 113496163 113496163 single base substitution G A downstream_gene_variant MALY-DE 12 113496163 113496163 single base substitution G A missense_variant A56T 166G>A MALY-DE 12 113496202 113496202 single base substitution C A downstream_gene_variant MALY-DE 12 113496202 113496202 single base substitution C A missense_variant L69I 205C>A MALY-DE 12 113496202 113496202 single base substitution C T downstream_gene_variant MALY-DE 12 113496202 113496202 single base substitution C T missense_variant L69F 205C>T MALY-DE 12 113496205 113496205 single base substitution G C downstream_gene_variant MALY-DE 12 113496205 113496205 single base substitution G C missense_variant V70L 208G>C MALY-DE 12 113496208 113496208 single base substitution C G downstream_gene_variant MALY-DE 12 113496208 113496208 single base substitution C G missense_variant P71A 211C>G MALY-DE 12 113496226 113496226 single base substitution C T downstream_gene_variant MALY-DE 12 113496226 113496226 single base substitution C T stop_gained Q77* 229C>T MALY-DE 12 113496235 113496235 single base substitution C T downstream_gene_variant MALY-DE 12 113496235 113496235 single base substitution C T missense_variant H80Y 238C>T MALY-DE 12 113496261 113496261 single base substitution G A downstream_gene_variant MALY-DE 12 113496261 113496261 single base substitution G A intron_variant MALY-DE 12 113496264 113496264 single base substitution G A downstream_gene_variant MALY-DE 12 113496264 113496264 single base substitution G A intron_variant MALY-DE 12 113496268 113496268 single base substitution C A downstream_gene_variant MALY-DE 12 113496268 113496268 single base substitution C A intron_variant MALY-DE 12 113496279 113496279 single base substitution C T downstream_gene_variant MALY-DE 12 113496279 113496279 single base substitution C T intron_variant MALY-DE 12 113496296 113496296 single base substitution C T downstream_gene_variant MALY-DE 12 113496296 113496296 single base substitution C T intron_variant MALY-DE 12 113496299 113496299 single base substitution T G downstream_gene_variant MALY-DE 12 113496299 113496299 single base substitution T G intron_variant MALY-DE 12 113496330 113496330 single base substitution C T downstream_gene_variant MALY-DE 12 113496330 113496330 single base substitution C T intron_variant MALY-DE 12 113496338 113496338 single base substitution A T downstream_gene_variant MALY-DE 12 113496338 113496338 single base substitution A T intron_variant MALY-DE 12 113496342 113496342 single base substitution G C downstream_gene_variant MALY-DE 12 113496342 113496342 single base substitution G C intron_variant MALY-DE 12 113496353 113496353 single base substitution A G downstream_gene_variant MALY-DE 12 113496353 113496353 single base substitution A G intron_variant MALY-DE 12 113496386 113496386 single base substitution A G downstream_gene_variant MALY-DE 12 113496386 113496386 single base substitution A G intron_variant MALY-DE 12 113496399 113496399 single base substitution C G downstream_gene_variant MALY-DE 12 113496399 113496399 single base substitution C G intron_variant MALY-DE 12 113496404 113496404 single base substitution C T downstream_gene_variant MALY-DE 12 113496404 113496404 single base substitution C T intron_variant MALY-DE 12 113496412 113496412 single base substitution G C downstream_gene_variant MALY-DE 12 113496412 113496412 single base substitution G C intron_variant MALY-DE 12 113496443 113496443 single base substitution A G downstream_gene_variant MALY-DE 12 113496443 113496443 single base substitution A G intron_variant MALY-DE 12 113496449 113496449 single base substitution C T downstream_gene_variant MALY-DE 12 113496449 113496449 single base substitution C T intron_variant MALY-DE 12 113496464 113496464 single base substitution C T downstream_gene_variant MALY-DE 12 113496464 113496464 single base substitution C T intron_variant MALY-DE 12 113496473 113496473 single base substitution T C downstream_gene_variant MALY-DE 12 113496473 113496473 single base substitution T C intron_variant MALY-DE 12 113496475 113496475 single base substitution A C downstream_gene_variant MALY-DE 12 113496475 113496475 single base substitution A C intron_variant MALY-DE 12 113496541 113496541 single base substitution G T downstream_gene_variant MALY-DE 12 113496541 113496541 single base substitution G T intron_variant MALY-DE 12 113496559 113496559 single base substitution C T downstream_gene_variant MALY-DE 12 113496559 113496559 single base substitution C T intron_variant MALY-DE 12 113496577 113496577 single base substitution T G downstream_gene_variant MALY-DE 12 113496577 113496577 single base substitution T G intron_variant MALY-DE 12 113496584 113496584 single base substitution G C downstream_gene_variant MALY-DE 12 113496584 113496584 single base substitution G C intron_variant MALY-DE 12 113496595 113496595 single base substitution G T downstream_gene_variant MALY-DE 12 113496595 113496595 single base substitution G T intron_variant MALY-DE 12 113496637 113496637 single base substitution T C downstream_gene_variant MALY-DE 12 113496637 113496637 single base substitution T C intron_variant MALY-DE 12 113496639 113496639 single base substitution T C downstream_gene_variant MALY-DE 12 113496639 113496639 single base substitution T C intron_variant MALY-DE 12 113496668 113496668 single base substitution G T downstream_gene_variant MALY-DE 12 113496668 113496668 single base substitution G T intron_variant MALY-DE 12 113496732 113496732 single base substitution T G downstream_gene_variant MALY-DE 12 113496732 113496732 single base substitution T G intron_variant MALY-DE 12 113496790 113496790 single base substitution C T downstream_gene_variant MALY-DE 12 113496790 113496790 single base substitution C T intron_variant MALY-DE 12 113497102 113497102 single base substitution T A downstream_gene_variant MALY-DE 12 113497102 113497102 single base substitution T A intron_variant MALY-DE 12 113497133 113497133 single base substitution T C downstream_gene_variant MALY-DE 12 113497133 113497133 single base substitution T C intron_variant MALY-DE 12 113497133 113497133 single base substitution T G downstream_gene_variant MALY-DE 12 113497133 113497133 single base substitution T G intron_variant MALY-DE 12 113497137 113497137 single base substitution A C downstream_gene_variant MALY-DE 12 113497137 113497137 single base substitution A C intron_variant MALY-DE 12 113497201 113497201 single base substitution T G downstream_gene_variant MALY-DE 12 113497201 113497201 single base substitution T G intron_variant MALY-DE 12 113497285 113497285 single base substitution T A downstream_gene_variant MALY-DE 12 113497285 113497285 single base substitution T A intron_variant MALY-DE 12 113497946 113497946 single base substitution A C downstream_gene_variant MALY-DE 12 113497946 113497946 single base substitution A C intron_variant MALY-DE 12 113498094 113498094 single base substitution A G downstream_gene_variant MALY-DE 12 113498094 113498094 single base substitution A G intron_variant MALY-DE 12 113499911 113499911 single base substitution T C downstream_gene_variant MALY-DE 12 113499911 113499911 single base substitution T C intron_variant MALY-DE 12 113501373 113501373 single base substitution C T intron_variant MALY-DE 12 113501384 113501384 single base substitution G A intron_variant MALY-DE 12 113501409 113501409 single base substitution G T intron_variant MALY-DE 12 113502072 113502072 single base substitution A T intron_variant MALY-DE 12 113503440 113503440 single base substitution A G intron_variant MALY-DE 12 113504913 113504913 single base substitution A G intron_variant MALY-DE 12 113505865 113505865 single base substitution A G intron_variant MALY-DE 12 113505898 113505898 single base substitution T A intron_variant MALY-DE 12 113505996 113505996 single base substitution T C intron_variant MALY-DE 12 113506494 113506494 single base substitution A C intron_variant MALY-DE 12 113506579 113506579 single base substitution A G intron_variant MALY-DE 12 113506973 113506973 single base substitution T C intron_variant MALY-DE 12 113506975 113506975 single base substitution A G intron_variant MALY-DE 12 113507650 113507650 single base substitution G T intron_variant MALY-DE 12 113507703 113507703 single base substitution G A intron_variant MALY-DE 12 113509909 113509909 single base substitution G A intron_variant MALY-DE 12 113511459 113511459 single base substitution A T intron_variant MALY-DE 12 113511662 113511662 single base substitution C T intron_variant MALY-DE 12 113512885 113512885 single base substitution T G intron_variant MALY-DE 12 113513817 113513817 single base substitution C T intron_variant MALY-DE 12 113515514 113515514 single base substitution G A missense_variant G182D 545G>A MALY-DE 12 113515906 113515906 single base substitution C A missense_variant P313T 937C>A MALY-DE 12 113516744 113516744 single base substitution G A intron_variant MALY-DE 12 113517258 113517258 single base substitution T A intron_variant MALY-DE 12 113525031 113525031 single base substitution A T intron_variant MALY-DE 12 113525031 113525031 single base substitution A T upstream_gene_variant MALY-DE 12 113533397 113533397 single base substitution A G downstream_gene_variant MALY-DE 12 113533397 113533397 single base substitution A G exon_variant MALY-DE 12 113533397 113533397 single base substitution A G intron_variant MALY-DE 12 113535822 113535822 single base substitution T C 3_prime_UTR_variant MALY-DE 12 113535822 113535822 single base substitution T C downstream_gene_variant MALY-DE 12 113536315 113536315 single base substitution C T downstream_gene_variant MALY-DE 12 113536833 113536833 single base substitution A G downstream_gene_variant MALY-DE 12 113536834 113536834 single base substitution T C downstream_gene_variant MALY-DE 12 113536864 113536864 single base substitution C T downstream_gene_variant MELA-AU 12 113489680 113489680 single base substitution C T upstream_gene_variant MELA-AU 12 113489687 113489687 single base substitution G A upstream_gene_variant MELA-AU 12 113489738 113489738 single base substitution C T upstream_gene_variant MELA-AU 12 113489903 113489903 single base substitution G A upstream_gene_variant MELA-AU 12 113489990 113489990 single base substitution G T upstream_gene_variant MELA-AU 12 113490532 113490532 single base substitution T C upstream_gene_variant MELA-AU 12 113490834 113490834 single base substitution G A upstream_gene_variant MELA-AU 12 113491159 113491159 single base substitution T C upstream_gene_variant MELA-AU 12 113491210 113491210 single base substitution G A upstream_gene_variant MELA-AU 12 113491241 113491241 single base substitution C T upstream_gene_variant MELA-AU 12 113491330 113491330 single base substitution C T upstream_gene_variant MELA-AU 12 113491425 113491425 single base substitution G A upstream_gene_variant MELA-AU 12 113491477 113491477 single base substitution G A upstream_gene_variant MELA-AU 12 113491495 113491496 multiple base substitution (>=2bp and <=200bp) CT TA upstream_gene_variant MELA-AU 12 113492123 113492123 single base substitution G A upstream_gene_variant MELA-AU 12 113492449 113492449 single base substitution T C upstream_gene_variant MELA-AU 12 113492467 113492467 single base substitution C T upstream_gene_variant MELA-AU 12 113492783 113492783 single base substitution C T upstream_gene_variant MELA-AU 12 113492938 113492938 single base substitution C T upstream_gene_variant MELA-AU 12 113492990 113492990 single base substitution C T upstream_gene_variant MELA-AU 12 113492991 113492991 single base substitution G A upstream_gene_variant MELA-AU 12 113493120 113493120 single base substitution C A upstream_gene_variant MELA-AU 12 113493133 113493133 single base substitution C T upstream_gene_variant MELA-AU 12 113493234 113493234 single base substitution G A upstream_gene_variant MELA-AU 12 113493448 113493449 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 113493914 113493914 single base substitution C G upstream_gene_variant MELA-AU 12 113493927 113493927 single base substitution C T upstream_gene_variant MELA-AU 12 113494026 113494026 single base substitution G A upstream_gene_variant MELA-AU 12 113494108 113494108 single base substitution C T upstream_gene_variant MELA-AU 12 113494295 113494295 single base substitution G A upstream_gene_variant MELA-AU 12 113495276 113495277 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 12 113495276 113495277 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 113495308 113495308 single base substitution C T exon_variant MELA-AU 12 113495308 113495308 single base substitution C T upstream_gene_variant MELA-AU 12 113495435 113495435 single base substitution G A exon_variant MELA-AU 12 113495435 113495435 single base substitution G A upstream_gene_variant MELA-AU 12 113495487 113495487 single base substitution G A exon_variant MELA-AU 12 113495487 113495487 single base substitution G A upstream_gene_variant MELA-AU 12 113496005 113496005 single base substitution G C downstream_gene_variant MELA-AU 12 113496005 113496005 single base substitution G C missense_variant R3P 8G>C MELA-AU 12 113496404 113496404 single base substitution C T downstream_gene_variant MELA-AU 12 113496404 113496404 single base substitution C T intron_variant MELA-AU 12 113496629 113496629 single base substitution C T downstream_gene_variant MELA-AU 12 113496629 113496629 single base substitution C T intron_variant MELA-AU 12 113496761 113496761 single base substitution C T downstream_gene_variant MELA-AU 12 113496761 113496761 single base substitution C T intron_variant MELA-AU 12 113496862 113496862 single base substitution G A downstream_gene_variant MELA-AU 12 113496862 113496862 single base substitution G A intron_variant MELA-AU 12 113496894 113496894 single base substitution G A downstream_gene_variant MELA-AU 12 113496894 113496894 single base substitution G A intron_variant MELA-AU 12 113497098 113497098 single base substitution G A downstream_gene_variant MELA-AU 12 113497098 113497098 single base substitution G A intron_variant MELA-AU 12 113497160 113497160 single base substitution C T downstream_gene_variant MELA-AU 12 113497160 113497160 single base substitution C T intron_variant MELA-AU 12 113497447 113497447 single base substitution G A downstream_gene_variant MELA-AU 12 113497447 113497447 single base substitution G A intron_variant MELA-AU 12 113498106 113498106 single base substitution G A downstream_gene_variant MELA-AU 12 113498106 113498106 single base substitution G A intron_variant MELA-AU 12 113498310 113498310 single base substitution G A downstream_gene_variant MELA-AU 12 113498310 113498310 single base substitution G A intron_variant MELA-AU 12 113498657 113498657 single base substitution T C downstream_gene_variant MELA-AU 12 113498657 113498657 single base substitution T C intron_variant MELA-AU 12 113498791 113498791 single base substitution C T downstream_gene_variant MELA-AU 12 113498791 113498791 single base substitution C T intron_variant MELA-AU 12 113498792 113498792 single base substitution C T downstream_gene_variant MELA-AU 12 113498792 113498792 single base substitution C T intron_variant MELA-AU 12 113498897 113498897 deletion of <=200bp G - downstream_gene_variant MELA-AU 12 113498897 113498897 deletion of <=200bp G - intron_variant MELA-AU 12 113498962 113498962 single base substitution C T downstream_gene_variant MELA-AU 12 113498962 113498962 single base substitution C T intron_variant MELA-AU 12 113498963 113498963 single base substitution C T downstream_gene_variant MELA-AU 12 113498963 113498963 single base substitution C T intron_variant MELA-AU 12 113499112 113499112 single base substitution G A downstream_gene_variant MELA-AU 12 113499112 113499112 single base substitution G A intron_variant MELA-AU 12 113499337 113499337 single base substitution C T downstream_gene_variant MELA-AU 12 113499337 113499337 single base substitution C T intron_variant MELA-AU 12 113499355 113499355 single base substitution G A downstream_gene_variant MELA-AU 12 113499355 113499355 single base substitution G A intron_variant MELA-AU 12 113499764 113499764 single base substitution G A downstream_gene_variant MELA-AU 12 113499764 113499764 single base substitution G A intron_variant MELA-AU 12 113500255 113500255 single base substitution C T downstream_gene_variant MELA-AU 12 113500255 113500255 single base substitution C T intron_variant MELA-AU 12 113500262 113500262 single base substitution C T downstream_gene_variant MELA-AU 12 113500262 113500262 single base substitution C T intron_variant MELA-AU 12 113500631 113500631 single base substitution G A downstream_gene_variant MELA-AU 12 113500631 113500631 single base substitution G A intron_variant MELA-AU 12 113500684 113500684 single base substitution G A downstream_gene_variant MELA-AU 12 113500684 113500684 single base substitution G A intron_variant MELA-AU 12 113500784 113500784 single base substitution G A downstream_gene_variant MELA-AU 12 113500784 113500784 single base substitution G A intron_variant MELA-AU 12 113500937 113500937 single base substitution C T downstream_gene_variant MELA-AU 12 113500937 113500937 single base substitution C T intron_variant MELA-AU 12 113501195 113501195 single base substitution C T intron_variant MELA-AU 12 113501245 113501245 single base substitution G A intron_variant MELA-AU 12 113501366 113501366 single base substitution C T intron_variant MELA-AU 12 113501690 113501690 single base substitution G A intron_variant MELA-AU 12 113501833 113501834 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 113501914 113501914 single base substitution C T intron_variant MELA-AU 12 113501922 113501922 single base substitution C A intron_variant MELA-AU 12 113502009 113502009 single base substitution G A intron_variant MELA-AU 12 113502046 113502046 single base substitution C T intron_variant MELA-AU 12 113502310 113502310 single base substitution C T intron_variant MELA-AU 12 113502442 113502442 single base substitution C T intron_variant MELA-AU 12 113502551 113502551 single base substitution G A intron_variant MELA-AU 12 113502729 113502729 single base substitution G A intron_variant MELA-AU 12 113502796 113502796 single base substitution G A intron_variant MELA-AU 12 113503300 113503300 single base substitution C T intron_variant MELA-AU 12 113503340 113503340 single base substitution C T intron_variant MELA-AU 12 113503623 113503623 single base substitution G A intron_variant MELA-AU 12 113503706 113503706 single base substitution C T intron_variant MELA-AU 12 113503851 113503851 single base substitution C T intron_variant MELA-AU 12 113504131 113504131 single base substitution C T intron_variant MELA-AU 12 113504464 113504464 single base substitution G A intron_variant MELA-AU 12 113504512 113504512 single base substitution C T intron_variant MELA-AU 12 113505018 113505018 single base substitution C T intron_variant MELA-AU 12 113505091 113505091 single base substitution C T intron_variant MELA-AU 12 113505221 113505221 single base substitution C T intron_variant MELA-AU 12 113505445 113505445 single base substitution G A intron_variant MELA-AU 12 113505467 113505467 single base substitution G A intron_variant MELA-AU 12 113505505 113505505 single base substitution G A intron_variant MELA-AU 12 113506025 113506025 single base substitution A T intron_variant MELA-AU 12 113506093 113506094 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 113506114 113506114 single base substitution G A intron_variant MELA-AU 12 113506115 113506115 single base substitution G A intron_variant MELA-AU 12 113506370 113506370 single base substitution G A intron_variant MELA-AU 12 113506550 113506550 single base substitution C T intron_variant MELA-AU 12 113506688 113506688 single base substitution C T intron_variant MELA-AU 12 113506822 113506822 single base substitution C T intron_variant MELA-AU 12 113507217 113507217 single base substitution C T intron_variant MELA-AU 12 113507359 113507359 single base substitution C T intron_variant MELA-AU 12 113507360 113507360 single base substitution C T intron_variant MELA-AU 12 113507668 113507668 single base substitution G A intron_variant MELA-AU 12 113507685 113507685 single base substitution G A intron_variant MELA-AU 12 113507709 113507709 single base substitution C T intron_variant MELA-AU 12 113507797 113507797 single base substitution G A intron_variant MELA-AU 12 113507890 113507890 single base substitution C T intron_variant MELA-AU 12 113508037 113508037 single base substitution G A intron_variant MELA-AU 12 113508259 113508260 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 113508269 113508269 single base substitution C T intron_variant MELA-AU 12 113508358 113508358 single base substitution C T intron_variant MELA-AU 12 113508673 113508673 single base substitution C T intron_variant MELA-AU 12 113508751 113508751 single base substitution C T intron_variant MELA-AU 12 113509287 113509287 single base substitution C T intron_variant MELA-AU 12 113509506 113509506 single base substitution C T intron_variant MELA-AU 12 113509630 113509630 single base substitution G A intron_variant MELA-AU 12 113509852 113509852 single base substitution C T intron_variant MELA-AU 12 113509871 113509871 single base substitution C T intron_variant MELA-AU 12 113509885 113509885 single base substitution C T intron_variant MELA-AU 12 113510699 113510699 single base substitution C T intron_variant MELA-AU 12 113511081 113511081 single base substitution G A intron_variant MELA-AU 12 113511390 113511390 single base substitution A T intron_variant MELA-AU 12 113511567 113511567 single base substitution G A intron_variant MELA-AU 12 113511573 113511573 single base substitution G A intron_variant MELA-AU 12 113511677 113511677 single base substitution C T intron_variant MELA-AU 12 113511955 113511955 single base substitution A G intron_variant MELA-AU 12 113512355 113512355 single base substitution C T intron_variant MELA-AU 12 113512373 113512373 single base substitution G A intron_variant MELA-AU 12 113512546 113512546 single base substitution G A intron_variant MELA-AU 12 113512572 113512572 single base substitution G A intron_variant MELA-AU 12 113512659 113512659 single base substitution G A intron_variant MELA-AU 12 113512806 113512806 single base substitution G A intron_variant MELA-AU 12 113512861 113512861 single base substitution T C intron_variant MELA-AU 12 113512868 113512868 single base substitution C T intron_variant MELA-AU 12 113513006 113513006 single base substitution C T intron_variant MELA-AU 12 113513087 113513087 single base substitution C T intron_variant MELA-AU 12 113513219 113513219 single base substitution G A intron_variant MELA-AU 12 113513236 113513236 single base substitution C T intron_variant MELA-AU 12 113513397 113513397 single base substitution C T intron_variant MELA-AU 12 113513629 113513629 single base substitution A C intron_variant MELA-AU 12 113513633 113513633 single base substitution G A intron_variant MELA-AU 12 113513823 113513823 single base substitution G A intron_variant MELA-AU 12 113513842 113513842 single base substitution G A intron_variant MELA-AU 12 113514468 113514468 single base substitution G A intron_variant MELA-AU 12 113516118 113516118 single base substitution G A intron_variant MELA-AU 12 113516314 113516314 single base substitution T C intron_variant MELA-AU 12 113516324 113516324 single base substitution G A intron_variant MELA-AU 12 113516700 113516700 single base substitution A G intron_variant MELA-AU 12 113516706 113516706 single base substitution G A intron_variant MELA-AU 12 113516709 113516709 single base substitution G A intron_variant MELA-AU 12 113517061 113517061 single base substitution G A intron_variant MELA-AU 12 113517226 113517226 single base substitution G A intron_variant MELA-AU 12 113517240 113517240 single base substitution C T intron_variant MELA-AU 12 113517630 113517630 single base substitution C T intron_variant MELA-AU 12 113517967 113517967 single base substitution G A intron_variant MELA-AU 12 113518226 113518226 single base substitution G A intron_variant MELA-AU 12 113518543 113518543 single base substitution G A intron_variant MELA-AU 12 113518769 113518769 single base substitution G A intron_variant MELA-AU 12 113519308 113519308 single base substitution G A intron_variant MELA-AU 12 113519657 113519657 single base substitution C T intron_variant MELA-AU 12 113519830 113519830 single base substitution C T intron_variant MELA-AU 12 113519842 113519842 single base substitution C T intron_variant MELA-AU 12 113519874 113519874 single base substitution C T intron_variant MELA-AU 12 113519986 113519986 single base substitution G A intron_variant MELA-AU 12 113520059 113520059 single base substitution C T intron_variant MELA-AU 12 113520141 113520141 single base substitution C T intron_variant MELA-AU 12 113520243 113520243 single base substitution C T intron_variant MELA-AU 12 113521253 113521253 single base substitution C T intron_variant MELA-AU 12 113521513 113521513 single base substitution C G intron_variant MELA-AU 12 113521658 113521658 single base substitution C T intron_variant MELA-AU 12 113521866 113521866 single base substitution G A intron_variant MELA-AU 12 113521894 113521894 single base substitution C T intron_variant MELA-AU 12 113521946 113521946 single base substitution C T intron_variant MELA-AU 12 113522296 113522296 single base substitution T G intron_variant MELA-AU 12 113522566 113522566 single base substitution G A intron_variant MELA-AU 12 113523257 113523257 single base substitution C T intron_variant MELA-AU 12 113523257 113523257 single base substitution C T upstream_gene_variant MELA-AU 12 113523258 113523258 single base substitution C T intron_variant MELA-AU 12 113523258 113523258 single base substitution C T upstream_gene_variant MELA-AU 12 113523462 113523462 single base substitution C T intron_variant MELA-AU 12 113523462 113523462 single base substitution C T upstream_gene_variant MELA-AU 12 113523509 113523509 single base substitution C T intron_variant MELA-AU 12 113523509 113523509 single base substitution C T upstream_gene_variant MELA-AU 12 113523554 113523554 single base substitution C T intron_variant MELA-AU 12 113523554 113523554 single base substitution C T upstream_gene_variant MELA-AU 12 113523642 113523642 single base substitution T A intron_variant MELA-AU 12 113523642 113523642 single base substitution T A upstream_gene_variant MELA-AU 12 113523832 113523832 single base substitution G A intron_variant MELA-AU 12 113523832 113523832 single base substitution G A upstream_gene_variant MELA-AU 12 113523883 113523883 single base substitution G A intron_variant MELA-AU 12 113523883 113523883 single base substitution G A upstream_gene_variant MELA-AU 12 113523984 113523984 single base substitution G A intron_variant MELA-AU 12 113523984 113523984 single base substitution G A upstream_gene_variant MELA-AU 12 113524032 113524032 single base substitution C T intron_variant MELA-AU 12 113524032 113524032 single base substitution C T upstream_gene_variant MELA-AU 12 113524350 113524350 single base substitution G A intron_variant MELA-AU 12 113524350 113524350 single base substitution G A upstream_gene_variant MELA-AU 12 113524446 113524446 single base substitution C T intron_variant MELA-AU 12 113524446 113524446 single base substitution C T upstream_gene_variant MELA-AU 12 113525086 113525086 single base substitution C T intron_variant MELA-AU 12 113525086 113525086 single base substitution C T upstream_gene_variant MELA-AU 12 113525301 113525301 single base substitution G A intron_variant MELA-AU 12 113525301 113525301 single base substitution G A upstream_gene_variant MELA-AU 12 113525530 113525530 single base substitution G A intron_variant MELA-AU 12 113525530 113525530 single base substitution G A upstream_gene_variant MELA-AU 12 113525590 113525590 single base substitution G A intron_variant MELA-AU 12 113525590 113525590 single base substitution G A upstream_gene_variant MELA-AU 12 113525604 113525604 single base substitution T A intron_variant MELA-AU 12 113525604 113525604 single base substitution T A upstream_gene_variant MELA-AU 12 113525616 113525616 single base substitution G A intron_variant MELA-AU 12 113525616 113525616 single base substitution G A upstream_gene_variant MELA-AU 12 113525705 113525705 single base substitution C T intron_variant MELA-AU 12 113525705 113525705 single base substitution C T upstream_gene_variant MELA-AU 12 113525707 113525707 single base substitution G A intron_variant MELA-AU 12 113525707 113525707 single base substitution G A upstream_gene_variant MELA-AU 12 113525726 113525726 single base substitution G A intron_variant MELA-AU 12 113525726 113525726 single base substitution G A upstream_gene_variant MELA-AU 12 113525924 113525924 single base substitution C T intron_variant MELA-AU 12 113525924 113525924 single base substitution C T upstream_gene_variant MELA-AU 12 113527433 113527433 single base substitution C T intron_variant MELA-AU 12 113527433 113527433 single base substitution C T upstream_gene_variant MELA-AU 12 113527438 113527438 single base substitution G A intron_variant MELA-AU 12 113527438 113527438 single base substitution G A upstream_gene_variant MELA-AU 12 113527664 113527664 single base substitution C T intron_variant MELA-AU 12 113527664 113527664 single base substitution C T upstream_gene_variant MELA-AU 12 113527913 113527913 single base substitution C T intron_variant MELA-AU 12 113527913 113527913 single base substitution C T upstream_gene_variant MELA-AU 12 113528133 113528134 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 113528133 113528134 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 113528260 113528260 single base substitution C T intron_variant MELA-AU 12 113528260 113528260 single base substitution C T upstream_gene_variant MELA-AU 12 113528335 113528335 single base substitution G A intron_variant MELA-AU 12 113528335 113528335 single base substitution G A upstream_gene_variant MELA-AU 12 113528443 113528443 single base substitution C T intron_variant MELA-AU 12 113528443 113528443 single base substitution C T upstream_gene_variant MELA-AU 12 113528444 113528444 single base substitution C T intron_variant MELA-AU 12 113528444 113528444 single base substitution C T upstream_gene_variant MELA-AU 12 113528793 113528793 single base substitution G A intron_variant MELA-AU 12 113528793 113528793 single base substitution G A upstream_gene_variant MELA-AU 12 113528873 113528873 single base substitution C T intron_variant MELA-AU 12 113528873 113528873 single base substitution C T upstream_gene_variant MELA-AU 12 113528974 113528974 single base substitution C T intron_variant MELA-AU 12 113528974 113528974 single base substitution C T upstream_gene_variant MELA-AU 12 113528978 113528978 single base substitution G A intron_variant MELA-AU 12 113528978 113528978 single base substitution G A upstream_gene_variant MELA-AU 12 113529466 113529466 single base substitution C T intron_variant MELA-AU 12 113529466 113529466 single base substitution C T upstream_gene_variant MELA-AU 12 113529571 113529571 single base substitution G A intron_variant MELA-AU 12 113529571 113529571 single base substitution G A upstream_gene_variant MELA-AU 12 113529678 113529678 single base substitution G A intron_variant MELA-AU 12 113529678 113529678 single base substitution G A upstream_gene_variant MELA-AU 12 113529889 113529889 single base substitution G C intron_variant MELA-AU 12 113529889 113529889 single base substitution G C upstream_gene_variant MELA-AU 12 113530178 113530178 single base substitution C T intron_variant MELA-AU 12 113530178 113530178 single base substitution C T upstream_gene_variant MELA-AU 12 113530763 113530763 single base substitution C T intron_variant MELA-AU 12 113530763 113530763 single base substitution C T upstream_gene_variant MELA-AU 12 113530908 113530908 single base substitution C T intron_variant MELA-AU 12 113530908 113530908 single base substitution C T upstream_gene_variant MELA-AU 12 113531013 113531013 single base substitution C T exon_variant MELA-AU 12 113531013 113531013 single base substitution C T missense_variant H330Y 988C>T MELA-AU 12 113531013 113531013 single base substitution C T upstream_gene_variant MELA-AU 12 113531632 113531632 single base substitution C T intron_variant MELA-AU 12 113531632 113531632 single base substitution C T upstream_gene_variant MELA-AU 12 113531922 113531922 single base substitution G A intron_variant MELA-AU 12 113531922 113531922 single base substitution G A upstream_gene_variant MELA-AU 12 113532725 113532725 single base substitution C T exon_variant MELA-AU 12 113532725 113532725 single base substitution C T synonymous_variant L453L 1359C>T MELA-AU 12 113532725 113532725 single base substitution C T upstream_gene_variant MELA-AU 12 113532790 113532790 single base substitution G A downstream_gene_variant MELA-AU 12 113532790 113532790 single base substitution G A intron_variant MELA-AU 12 113532790 113532790 single base substitution G A upstream_gene_variant MELA-AU 12 113533523 113533523 single base substitution C T downstream_gene_variant MELA-AU 12 113533523 113533523 single base substitution C T intron_variant MELA-AU 12 113533603 113533603 single base substitution G A downstream_gene_variant MELA-AU 12 113533603 113533603 single base substitution G A intron_variant MELA-AU 12 113534177 113534177 single base substitution C T downstream_gene_variant MELA-AU 12 113534177 113534177 single base substitution C T intron_variant MELA-AU 12 113534445 113534445 single base substitution G A downstream_gene_variant MELA-AU 12 113534445 113534445 single base substitution G A intron_variant MELA-AU 12 113534485 113534485 single base substitution C T downstream_gene_variant MELA-AU 12 113534485 113534485 single base substitution C T intron_variant MELA-AU 12 113534829 113534829 single base substitution T C 3_prime_UTR_variant MELA-AU 12 113534829 113534829 single base substitution T C downstream_gene_variant MELA-AU 12 113534829 113534829 single base substitution T C exon_variant MELA-AU 12 113534900 113534900 single base substitution G A 3_prime_UTR_variant MELA-AU 12 113534900 113534900 single base substitution G A downstream_gene_variant MELA-AU 12 113534900 113534900 single base substitution G A exon_variant MELA-AU 12 113535096 113535096 single base substitution C T 3_prime_UTR_variant MELA-AU 12 113535096 113535096 single base substitution C T downstream_gene_variant MELA-AU 12 113535096 113535096 single base substitution C T exon_variant MELA-AU 12 113535234 113535234 single base substitution G A 3_prime_UTR_variant MELA-AU 12 113535234 113535234 single base substitution G A downstream_gene_variant MELA-AU 12 113535234 113535234 single base substitution G A exon_variant MELA-AU 12 113535260 113535260 single base substitution C T 3_prime_UTR_variant MELA-AU 12 113535260 113535260 single base substitution C T downstream_gene_variant MELA-AU 12 113535260 113535260 single base substitution C T exon_variant MELA-AU 12 113535445 113535445 single base substitution C T 3_prime_UTR_variant MELA-AU 12 113535445 113535445 single base substitution C T downstream_gene_variant MELA-AU 12 113535445 113535445 single base substitution C T exon_variant MELA-AU 12 113535534 113535534 single base substitution C T 3_prime_UTR_variant MELA-AU 12 113535534 113535534 single base substitution C T downstream_gene_variant MELA-AU 12 113535534 113535534 single base substitution C T exon_variant MELA-AU 12 113535563 113535563 single base substitution G A 3_prime_UTR_variant MELA-AU 12 113535563 113535563 single base substitution G A downstream_gene_variant MELA-AU 12 113535563 113535563 single base substitution G A exon_variant MELA-AU 12 113535634 113535634 single base substitution C T 3_prime_UTR_variant MELA-AU 12 113535634 113535634 single base substitution C T downstream_gene_variant MELA-AU 12 113535634 113535634 single base substitution C T exon_variant MELA-AU 12 113536014 113536014 single base substitution G A downstream_gene_variant MELA-AU 12 113536068 113536068 single base substitution C T downstream_gene_variant MELA-AU 12 113536314 113536314 single base substitution A G downstream_gene_variant MELA-AU 12 113537246 113537246 single base substitution G A downstream_gene_variant MELA-AU 12 113537246 113537246 single base substitution G T downstream_gene_variant MELA-AU 12 113537427 113537427 single base substitution G A downstream_gene_variant MELA-AU 12 113537428 113537428 single base substitution G A downstream_gene_variant MELA-AU 12 113537708 113537709 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 113537790 113537790 single base substitution C T downstream_gene_variant MELA-AU 12 113538288 113538288 single base substitution G A downstream_gene_variant MELA-AU 12 113538728 113538728 single base substitution C T downstream_gene_variant MELA-AU 12 113538762 113538762 single base substitution T C downstream_gene_variant MELA-AU 12 113538870 113538870 single base substitution C T downstream_gene_variant MELA-AU 12 113539007 113539007 single base substitution A G downstream_gene_variant MELA-AU 12 113539253 113539253 single base substitution G A downstream_gene_variant MELA-AU 12 113539283 113539283 single base substitution G A downstream_gene_variant MELA-AU 12 113539384 113539384 single base substitution G A downstream_gene_variant MELA-AU 12 113539503 113539503 single base substitution G A downstream_gene_variant MELA-AU 12 113539630 113539630 single base substitution G A downstream_gene_variant MELA-AU 12 113539915 113539915 single base substitution C T downstream_gene_variant MELA-AU 12 113540356 113540356 single base substitution C T downstream_gene_variant MELA-AU 12 113540568 113540568 single base substitution C T downstream_gene_variant ORCA-IN 12 113515502 113515502 single base substitution C A missense_variant P178Q 533C>A ORCA-IN 12 113533383 113533383 single base substitution T G downstream_gene_variant ORCA-IN 12 113533383 113533383 single base substitution T G exon_variant ORCA-IN 12 113533383 113533383 single base substitution T G intron_variant OV-AU 12 113491027 113491027 single base substitution G T upstream_gene_variant OV-AU 12 113492512 113492512 single base substitution C A upstream_gene_variant OV-AU 12 113494386 113494386 single base substitution G T upstream_gene_variant OV-AU 12 113495565 113495565 single base substitution C T 5_prime_UTR_variant OV-AU 12 113495565 113495565 single base substitution C T exon_variant OV-AU 12 113497415 113497415 single base substitution C T downstream_gene_variant OV-AU 12 113497415 113497415 single base substitution C T intron_variant OV-AU 12 113498536 113498536 single base substitution C A downstream_gene_variant OV-AU 12 113498536 113498536 single base substitution C A intron_variant OV-AU 12 113501045 113501045 single base substitution T G intron_variant OV-AU 12 113501866 113501866 single base substitution G T intron_variant OV-AU 12 113505079 113505079 single base substitution C T intron_variant OV-AU 12 113505490 113505490 single base substitution C A intron_variant OV-AU 12 113507114 113507114 single base substitution A G intron_variant OV-AU 12 113510690 113510690 single base substitution A G intron_variant OV-AU 12 113514967 113514967 single base substitution C T intron_variant OV-AU 12 113516950 113516950 single base substitution C G intron_variant OV-AU 12 113521745 113521745 single base substitution C A intron_variant OV-AU 12 113521746 113521746 single base substitution A G intron_variant OV-AU 12 113526717 113526717 single base substitution G A intron_variant OV-AU 12 113526717 113526717 single base substitution G A upstream_gene_variant OV-AU 12 113530439 113530439 single base substitution T C intron_variant OV-AU 12 113530439 113530439 single base substitution T C upstream_gene_variant OV-AU 12 113531702 113531702 single base substitution C G intron_variant OV-AU 12 113531702 113531702 single base substitution C G upstream_gene_variant OV-AU 12 113533903 113533903 single base substitution G A downstream_gene_variant OV-AU 12 113533903 113533903 single base substitution G A intron_variant OV-AU 12 113540337 113540337 single base substitution T C downstream_gene_variant OV-US 12 113534673 113534673 single base substitution G A downstream_gene_variant OV-US 12 113534673 113534673 single base substitution G A exon_variant OV-US 12 113534673 113534673 single base substitution G A missense_variant A598T 1792G>A PACA-AU 12 113490547 113490547 single base substitution A G upstream_gene_variant PACA-AU 12 113493559 113493559 single base substitution G C upstream_gene_variant PACA-AU 12 113494916 113494916 single base substitution C A intron_variant PACA-AU 12 113494916 113494916 single base substitution C A upstream_gene_variant PACA-AU 12 113498724 113498724 single base substitution G A downstream_gene_variant PACA-AU 12 113498724 113498724 single base substitution G A intron_variant PACA-AU 12 113504480 113504480 single base substitution C T intron_variant PACA-AU 12 113507826 113507826 single base substitution G A intron_variant PACA-AU 12 113508726 113508726 single base substitution G A intron_variant PACA-AU 12 113510759 113510759 single base substitution G A intron_variant PACA-AU 12 113513682 113513682 single base substitution C A intron_variant PACA-AU 12 113515404 113515404 single base substitution A C synonymous_variant L145L 435A>C PACA-AU 12 113520362 113520362 single base substitution T A intron_variant PACA-AU 12 113523781 113523781 single base substitution G T intron_variant PACA-AU 12 113523781 113523781 single base substitution G T upstream_gene_variant PACA-AU 12 113527651 113527651 single base substitution G A intron_variant PACA-AU 12 113527651 113527651 single base substitution G A upstream_gene_variant PACA-AU 12 113531645 113531645 single base substitution C T intron_variant PACA-AU 12 113531645 113531645 single base substitution C T upstream_gene_variant PACA-AU 12 113531717 113531717 single base substitution C A intron_variant PACA-AU 12 113531717 113531717 single base substitution C A upstream_gene_variant PACA-CA 12 113489808 113489808 single base substitution G A upstream_gene_variant PACA-CA 12 113490495 113490495 single base substitution C T upstream_gene_variant PACA-CA 12 113491155 113491155 single base substitution G A upstream_gene_variant PACA-CA 12 113491283 113491283 single base substitution G A upstream_gene_variant PACA-CA 12 113497944 113497944 single base substitution T G downstream_gene_variant PACA-CA 12 113497944 113497944 single base substitution T G intron_variant PACA-CA 12 113497963 113497963 single base substitution G A downstream_gene_variant PACA-CA 12 113497963 113497963 single base substitution G A intron_variant PACA-CA 12 113503791 113503791 single base substitution C T intron_variant PACA-CA 12 113507985 113507985 single base substitution G A intron_variant PACA-CA 12 113511698 113511698 single base substitution C T intron_variant PACA-CA 12 113512832 113512832 single base substitution G A intron_variant PACA-CA 12 113514890 113514890 single base substitution C T intron_variant PACA-CA 12 113514998 113514998 single base substitution C T intron_variant PACA-CA 12 113515390 113515390 single base substitution G A missense_variant D141N 421G>A PACA-CA 12 113515609 113515609 single base substitution G A missense_variant A214T 640G>A PACA-CA 12 113517154 113517154 single base substitution C A intron_variant PACA-CA 12 113519050 113519050 single base substitution C T intron_variant PACA-CA 12 113520108 113520108 single base substitution C T intron_variant PACA-CA 12 113520115 113520115 single base substitution T C intron_variant PACA-CA 12 113524452 113524452 deletion of <=200bp T - intron_variant PACA-CA 12 113524452 113524452 deletion of <=200bp T - upstream_gene_variant PACA-CA 12 113528594 113528594 single base substitution C T intron_variant PACA-CA 12 113528594 113528594 single base substitution C T upstream_gene_variant PACA-CA 12 113532651 113532651 single base substitution C T exon_variant PACA-CA 12 113532651 113532651 single base substitution C T missense_variant R429W 1285C>T PACA-CA 12 113532651 113532651 single base substitution C T upstream_gene_variant PACA-CA 12 113532896 113532896 single base substitution C T downstream_gene_variant PACA-CA 12 113532896 113532896 single base substitution C T exon_variant PACA-CA 12 113532896 113532896 single base substitution C T missense_variant T479M 1436C>T PACA-CA 12 113534298 113534298 single base substitution G T downstream_gene_variant PACA-CA 12 113534298 113534298 single base substitution G T intron_variant PACA-CA 12 113535207 113535207 single base substitution G C 3_prime_UTR_variant PACA-CA 12 113535207 113535207 single base substitution G C downstream_gene_variant PACA-CA 12 113535207 113535207 single base substitution G C exon_variant PACA-CA 12 113537008 113537008 single base substitution T G downstream_gene_variant PACA-CA 12 113540383 113540383 single base substitution G A downstream_gene_variant PAEN-AU 12 113506860 113506860 single base substitution C T intron_variant PAEN-AU 12 113515975 113515975 single base substitution T G intron_variant PAEN-AU 12 113531250 113531250 single base substitution A C intron_variant PAEN-AU 12 113531250 113531250 single base substitution A C upstream_gene_variant PAEN-IT 12 113492956 113492956 single base substitution G A upstream_gene_variant PAEN-IT 12 113525769 113525769 single base substitution G A intron_variant PAEN-IT 12 113525769 113525769 single base substitution G A upstream_gene_variant PBCA-DE 12 113489984 113489984 single base substitution C A upstream_gene_variant PBCA-DE 12 113502983 113502983 single base substitution G A intron_variant PBCA-DE 12 113507616 113507616 single base substitution C T intron_variant PBCA-DE 12 113515677 113515677 single base substitution G A synonymous_variant P236P 708G>A PBCA-DE 12 113517115 113517115 single base substitution G A intron_variant PBCA-DE 12 113527039 113527039 single base substitution G T intron_variant PBCA-DE 12 113527039 113527039 single base substitution G T upstream_gene_variant PBCA-DE 12 113530841 113530841 single base substitution T G intron_variant PBCA-DE 12 113530841 113530841 single base substitution T G upstream_gene_variant PRAD-CA 12 113493766 113493766 single base substitution G A upstream_gene_variant PRAD-CA 12 113519123 113519123 single base substitution G C intron_variant PRAD-CA 12 113519393 113519393 single base substitution G T intron_variant PRAD-UK 12 113496052 113496052 single base substitution C T downstream_gene_variant PRAD-UK 12 113496052 113496052 single base substitution C T missense_variant P19S 55C>T PRAD-UK 12 113497328 113497340 deletion of <=200bp TTTGTTCTGGAGA - downstream_gene_variant PRAD-UK 12 113497328 113497340 deletion of <=200bp TTTGTTCTGGAGA - intron_variant PRAD-UK 12 113512549 113512549 single base substitution C G intron_variant PRAD-UK 12 113521106 113521106 single base substitution G A intron_variant PRAD-UK 12 113522200 113522200 insertion of <=200bp - T intron_variant PRAD-UK 12 113525030 113525030 single base substitution A C intron_variant PRAD-UK 12 113525030 113525030 single base substitution A C upstream_gene_variant PRAD-US 12 113515335 113515335 single base substitution T G missense_variant D122E 366T>G PRAD-US 12 113532986 113532986 single base substitution A G downstream_gene_variant PRAD-US 12 113532986 113532986 single base substitution A G exon_variant PRAD-US 12 113532986 113532986 single base substitution A G missense_variant Y509C 1526A>G PRAD-US 12 113534571 113534571 single base substitution G A downstream_gene_variant PRAD-US 12 113534571 113534571 single base substitution G A exon_variant PRAD-US 12 113534571 113534571 single base substitution G A missense_variant G564S 1690G>A PRAD-US 12 113539707 113539707 single base substitution G A downstream_gene_variant RECA-EU 12 113500086 113500086 single base substitution T A downstream_gene_variant RECA-EU 12 113500086 113500086 single base substitution T A intron_variant RECA-EU 12 113502692 113502692 single base substitution G A intron_variant RECA-EU 12 113506573 113506573 single base substitution C G intron_variant RECA-EU 12 113511175 113511175 single base substitution C A intron_variant RECA-EU 12 113516919 113516919 single base substitution C T intron_variant RECA-EU 12 113518611 113518611 single base substitution T C intron_variant RECA-EU 12 113521800 113521800 single base substitution C A intron_variant RECA-EU 12 113528420 113528420 single base substitution T A intron_variant RECA-EU 12 113528420 113528420 single base substitution T A upstream_gene_variant RECA-EU 12 113539291 113539291 single base substitution C G downstream_gene_variant SKCA-BR 12 113490599 113490599 single base substitution C T upstream_gene_variant SKCA-BR 12 113491283 113491283 single base substitution G A upstream_gene_variant SKCA-BR 12 113493001 113493001 single base substitution C T upstream_gene_variant SKCA-BR 12 113498517 113498517 single base substitution C T downstream_gene_variant SKCA-BR 12 113498517 113498517 single base substitution C T intron_variant SKCA-BR 12 113498824 113498824 single base substitution C T downstream_gene_variant SKCA-BR 12 113498824 113498824 single base substitution C T intron_variant SKCA-BR 12 113499177 113499177 single base substitution G A downstream_gene_variant SKCA-BR 12 113499177 113499177 single base substitution G A intron_variant SKCA-BR 12 113501081 113501081 single base substitution T G intron_variant SKCA-BR 12 113501142 113501142 single base substitution T C intron_variant SKCA-BR 12 113505752 113505752 single base substitution G A intron_variant SKCA-BR 12 113507847 113507847 single base substitution T G intron_variant SKCA-BR 12 113508452 113508452 single base substitution G C intron_variant SKCA-BR 12 113511833 113511833 single base substitution C T intron_variant SKCA-BR 12 113511874 113511874 single base substitution A G intron_variant SKCA-BR 12 113513160 113513160 single base substitution G A intron_variant SKCA-BR 12 113514730 113514730 single base substitution G C intron_variant SKCA-BR 12 113516351 113516351 single base substitution C T intron_variant SKCA-BR 12 113517219 113517219 single base substitution G A intron_variant SKCA-BR 12 113517320 113517329 deletion of <=200bp CTTTTTTTTT - intron_variant SKCA-BR 12 113517661 113517661 single base substitution G A intron_variant SKCA-BR 12 113518779 113518779 insertion of <=200bp - CAAA intron_variant SKCA-BR 12 113522616 113522616 single base substitution G A intron_variant SKCA-BR 12 113524632 113524632 single base substitution T C intron_variant SKCA-BR 12 113524632 113524632 single base substitution T C upstream_gene_variant SKCA-BR 12 113528362 113528362 single base substitution A C intron_variant SKCA-BR 12 113528362 113528362 single base substitution A C upstream_gene_variant SKCA-BR 12 113528778 113528778 single base substitution C T intron_variant SKCA-BR 12 113528778 113528778 single base substitution C T upstream_gene_variant SKCA-BR 12 113528943 113528943 single base substitution T G intron_variant SKCA-BR 12 113528943 113528943 single base substitution T G upstream_gene_variant SKCA-BR 12 113529108 113529108 single base substitution C T intron_variant SKCA-BR 12 113529108 113529108 single base substitution C T upstream_gene_variant SKCA-BR 12 113531929 113531929 single base substitution G A intron_variant SKCA-BR 12 113531929 113531929 single base substitution G A upstream_gene_variant SKCA-BR 12 113532179 113532179 single base substitution G A intron_variant SKCA-BR 12 113532179 113532179 single base substitution G A upstream_gene_variant SKCA-BR 12 113533800 113533800 single base substitution C T downstream_gene_variant SKCA-BR 12 113533800 113533800 single base substitution C T intron_variant SKCA-BR 12 113534244 113534248 deletion of <=200bp CAAAA - downstream_gene_variant SKCA-BR 12 113534244 113534248 deletion of <=200bp CAAAA - intron_variant SKCA-BR 12 113536430 113536430 single base substitution C T downstream_gene_variant SKCA-BR 12 113538428 113538428 single base substitution C T downstream_gene_variant SKCA-BR 12 113539681 113539681 single base substitution T G downstream_gene_variant SKCA-BR 12 113539916 113539916 single base substitution C T downstream_gene_variant SKCM-US 12 113496244 113496244 single base substitution C T downstream_gene_variant SKCM-US 12 113496244 113496244 single base substitution C T missense_variant R83C 247C>T SKCM-US 12 113496249 113496249 single base substitution G A downstream_gene_variant SKCM-US 12 113496249 113496249 single base substitution G A synonymous_variant Q84Q 252G>A SKCM-US 12 113496250 113496250 single base substitution G A downstream_gene_variant SKCM-US 12 113496250 113496250 single base substitution G A missense_variant D85N 253G>A SKCM-US 12 113515257 113515257 single base substitution C T synonymous_variant F96F 288C>T SKCM-US 12 113515335 113515335 single base substitution T G missense_variant D122E 366T>G SKCM-US 12 113532612 113532612 single base substitution G A exon_variant SKCM-US 12 113532612 113532612 single base substitution G A missense_variant E416K 1246G>A SKCM-US 12 113532612 113532612 single base substitution G A upstream_gene_variant SKCM-US 12 113532692 113532692 single base substitution C T exon_variant SKCM-US 12 113532692 113532692 single base substitution C T synonymous_variant G442G 1326C>T SKCM-US 12 113532692 113532692 single base substitution C T upstream_gene_variant SKCM-US 12 113532725 113532725 single base substitution C T exon_variant SKCM-US 12 113532725 113532725 single base substitution C T synonymous_variant L453L 1359C>T SKCM-US 12 113532725 113532725 single base substitution C T upstream_gene_variant SKCM-US 12 113532887 113532887 single base substitution G A downstream_gene_variant SKCM-US 12 113532887 113532887 single base substitution G A exon_variant SKCM-US 12 113532887 113532887 single base substitution G A missense_variant G476E 1427G>A SKCM-US 12 113532914 113532914 single base substitution G A downstream_gene_variant SKCM-US 12 113532914 113532914 single base substitution G A exon_variant SKCM-US 12 113532914 113532914 single base substitution G A missense_variant G485E 1454G>A SKCM-US 12 113532915 113532915 single base substitution G A downstream_gene_variant SKCM-US 12 113532915 113532915 single base substitution G A exon_variant SKCM-US 12 113532915 113532915 single base substitution G A synonymous_variant G485G 1455G>A SKCM-US 12 113532927 113532927 single base substitution C T downstream_gene_variant SKCM-US 12 113532927 113532927 single base substitution C T exon_variant SKCM-US 12 113532927 113532927 single base substitution C T synonymous_variant F489F 1467C>T SKCM-US 12 113532957 113532957 single base substitution C T downstream_gene_variant SKCM-US 12 113532957 113532957 single base substitution C T exon_variant SKCM-US 12 113532957 113532957 single base substitution C T synonymous_variant F499F 1497C>T SKCM-US 12 113532972 113532972 single base substitution C T downstream_gene_variant SKCM-US 12 113532972 113532972 single base substitution C T exon_variant SKCM-US 12 113532972 113532972 single base substitution C T synonymous_variant T504T 1512C>T SKCM-US 12 113533172 113533172 single base substitution G A downstream_gene_variant SKCM-US 12 113533172 113533172 single base substitution G A exon_variant SKCM-US 12 113533172 113533172 single base substitution G A missense_variant G531R 1591G>A SKCM-US 12 113533184 113533184 single base substitution C T downstream_gene_variant SKCM-US 12 113533184 113533184 single base substitution C T exon_variant SKCM-US 12 113533184 113533184 single base substitution C T missense_variant H535Y 1603C>T SKCM-US 12 113534561 113534561 single base substitution C T downstream_gene_variant SKCM-US 12 113534561 113534561 single base substitution C T exon_variant SKCM-US 12 113534561 113534561 single base substitution C T synonymous_variant I560I 1680C>T SKCM-US 12 113534574 113534574 single base substitution A C downstream_gene_variant SKCM-US 12 113534574 113534574 single base substitution A C exon_variant SKCM-US 12 113534574 113534574 single base substitution A C missense_variant T565P 1693A>C SKCM-US 12 113537768 113537768 single base substitution C T downstream_gene_variant SKCM-US 12 113537790 113537790 single base substitution C T downstream_gene_variant SKCM-US 12 113537799 113537799 single base substitution G A downstream_gene_variant STAD-US 12 113496081 113496081 single base substitution G A downstream_gene_variant STAD-US 12 113496081 113496081 single base substitution G A stop_gained W28* 84G>A STAD-US 12 113496119 113496119 single base substitution C T downstream_gene_variant STAD-US 12 113496119 113496119 single base substitution C T missense_variant T41M 122C>T STAD-US 12 113496170 113496170 single base substitution G C downstream_gene_variant STAD-US 12 113496170 113496170 single base substitution G C missense_variant G58A 173G>C STAD-US 12 113496241 113496241 single base substitution T C downstream_gene_variant STAD-US 12 113496241 113496241 single base substitution T C missense_variant F82L 244T>C STAD-US 12 113515234 113515234 single base substitution A G missense_variant M89V 265A>G STAD-US 12 113515236 113515236 single base substitution G A missense_variant M89I 267G>A STAD-US 12 113515249 113515249 single base substitution C T missense_variant R94C 280C>T STAD-US 12 113515274 113515274 single base substitution C T missense_variant A102V 305C>T STAD-US 12 113515327 113515327 single base substitution G T missense_variant A120S 358G>T STAD-US 12 113515369 113515369 single base substitution G A missense_variant E134K 400G>A STAD-US 12 113515382 113515382 single base substitution C T missense_variant P138L 413C>T STAD-US 12 113532597 113532597 single base substitution T C exon_variant STAD-US 12 113532597 113532597 single base substitution T C missense_variant C411R 1231T>C STAD-US 12 113532597 113532597 single base substitution T C upstream_gene_variant STAD-US 12 113532900 113532900 single base substitution T C downstream_gene_variant STAD-US 12 113532900 113532900 single base substitution T C exon_variant STAD-US 12 113532900 113532900 single base substitution T C synonymous_variant G480G 1440T>C STAD-US 12 113532908 113532908 single base substitution C T downstream_gene_variant STAD-US 12 113532908 113532908 single base substitution C T exon_variant STAD-US 12 113532908 113532908 single base substitution C T missense_variant P483L 1448C>T STAD-US 12 113533182 113533182 single base substitution G A downstream_gene_variant STAD-US 12 113533182 113533182 single base substitution G A exon_variant STAD-US 12 113533182 113533182 single base substitution G A missense_variant R534H 1601G>A STAD-US 12 113534522 113534522 single base substitution G A downstream_gene_variant STAD-US 12 113534522 113534522 single base substitution G A splice_region_variant STAD-US 12 113534523 113534523 single base substitution C T downstream_gene_variant STAD-US 12 113534523 113534523 single base substitution C T exon_variant STAD-US 12 113534523 113534523 single base substitution C T synonymous_variant L548L 1642C>T STAD-US 12 113539773 113539773 deletion of <=200bp C - downstream_gene_variant THCA-US 12 113532726 113532726 single base substitution G C exon_variant THCA-US 12 113532726 113532726 single base substitution G C missense_variant V454L 1360G>C THCA-US 12 113532726 113532726 single base substitution G C upstream_gene_variant THCA-US 12 113533162 113533162 single base substitution C A downstream_gene_variant THCA-US 12 113533162 113533162 single base substitution C A exon_variant THCA-US 12 113533162 113533162 single base substitution C A missense_variant F527L 1581C>A UCEC-US 12 113496176 113496176 insertion of <=200bp - C downstream_gene_variant UCEC-US 12 113496176 113496176 insertion of <=200bp - C frameshift_variant V60A? UCEC-US 12 113515390 113515390 single base substitution G A missense_variant D141N 421G>A UCEC-US 12 113515475 113515475 single base substitution T C missense_variant L169P 506T>C UCEC-US 12 113531471 113531471 single base substitution G T exon_variant UCEC-US 12 113531471 113531471 single base substitution G T synonymous_variant V377V 1131G>T UCEC-US 12 113531471 113531471 single base substitution G T upstream_gene_variant UCEC-US 12 113531866 113531866 single base substitution C T exon_variant UCEC-US 12 113531866 113531866 single base substitution C T stop_gained R397* 1189C>T UCEC-US 12 113531866 113531866 single base substitution C T upstream_gene_variant UCEC-US 12 113532896 113532896 single base substitution C T downstream_gene_variant UCEC-US 12 113532896 113532896 single base substitution C T exon_variant UCEC-US 12 113532896 113532896 single base substitution C T missense_variant T479M 1436C>T UCEC-US 12 113532909 113532909 single base substitution G A downstream_gene_variant UCEC-US 12 113532909 113532909 single base substitution G A exon_variant UCEC-US 12 113532909 113532909 single base substitution G A synonymous_variant P483P 1449G>A UCEC-US 12 113534526 113534526 single base substitution C T downstream_gene_variant UCEC-US 12 113534526 113534526 single base substitution C T exon_variant UCEC-US 12 113534526 113534526 single base substitution C T missense_variant R549W 1645C>T UCEC-US 12 113534660 113534660 single base substitution C T downstream_gene_variant UCEC-US 12 113534660 113534660 single base substitution C T exon_variant UCEC-US 12 113534660 113534660 single base substitution C T synonymous_variant H593H 1779C>T UCEC-US 12 113537813 113537813 single base substitution A C downstream_gene_variant UCEC-US 12 113537853 113537853 single base substitution C T downstream_gene_variant UCEC-US 12 113539774 113539774 single base substitution C A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 8062308 COSM1949083 c.435A>C p.L145L Substitution - coding silent 12:113077599-113077599 + TCGA-CG-5721-01 COSM4038939 c.1440T>C p.G480G Substitution - coding silent 12:113095095-113095095 + TCGA-BR-8591-01 COSM291124 c.1601G>A p.R534H Substitution - Missense 12:113095377-113095377 + TCGA-BG-A0M2-01 COSM935362 c.1791C>T p.D597D Substitution - coding silent 12:113096867-113096867 + DLBCL756 COSM1580824 c.205C>G p.L69V Substitution - Missense 12:113058397-113058397 + ESCC-190T COSM3935747 c.1029G>A p.A343A Substitution - coding silent 12:113093564-113093564 + LUAD-B01970 COSM355998 c.1064A>G p.K355R Substitution - Missense 12:113093599-113093599 + RK119_C01 COSM3739442 c.1587A>G p.A529A Substitution - coding silent 12:113095363-113095363 + TCGA-EE-A181-06 COSM3456360 c.1326C>T p.G442G Substitution - coding silent 12:113094887-113094887 + DLBCL799 COSM1580823 c.173G>A p.G58D Substitution - Missense 12:113058365-113058365 + TCGA-GC-A3WC-01 COSM3792215 c.1426G>A p.G476R Substitution - Missense 12:113095081-113095081 + TCGA-D3-A3CE-06 COSM3456358 c.288C>T p.F96F Substitution - coding silent 12:113077452-113077452 + TCGA-BR-6452-01 COSM4038927 c.84G>A p.W28* Substitution - Nonsense 12:113058276-113058276 + 13D COSM1235062 c.191A>G p.Q64R Substitution - Missense 12:113058383-113058383 + Patient_1 COSM5414082 c.912C>T p.S304S Substitution - coding silent 12:113078076-113078076 + LUAD-S01346 COSM397443 c.1375A>T p.N459Y Substitution - Missense 12:113094936-113094936 + 587302 COSM1204679 c.349G>A p.A117T Substitution - Missense 12:113077513-113077513 + TCGA-AM-5821-01 COSM3752931 c.1425C>T p.Y475Y Substitution - coding silent 12:113095080-113095080 + CLL119 COSM1289686 c.203A>C p.Q68P Substitution - Missense 12:113058395-113058395 + C135 COSM4617300 c.533C>T p.P178L Substitution - Missense 12:113077697-113077697 + CHC912T COSM4806479 c.863C>A p.T288N Substitution - Missense 12:113078027-113078027 + TCGA-ER-A194-01 COSM3456361 c.1427G>A p.G476E Substitution - Missense 12:113095082-113095082 + TCGA-ER-A2ND-06 COSM356740 c.366T>G p.D122E Substitution - Missense 12:113077530-113077530 + TCGA-B4-5838-01 COSM1492816 c.214T>C p.Y72H Substitution - Missense 12:113058406-113058406 + TCGA-AD-6964-01 COSM3687969 c.300G>A p.S100S Substitution - coding silent 12:113077464-113077464 + T613 COSM935362 c.1791C>T p.D597D Substitution - coding silent 12:113096867-113096867 + Gp2D COSM1949072 c.271C>G p.P91A Substitution - Missense 12:113077435-113077435 + S02285 COSM5684487 c.1099G>T p.D367Y Substitution - Missense 12:113093634-113093634 + TCGA-BR-4184-01 COSM4038935 c.358G>T p.A120S Substitution - Missense 12:113077522-113077522 + MPCC_0038_Pa_C COSM935354 c.421G>A p.D141N Substitution - Missense 12:113077585-113077585 + B22-Tumor COSM1756763 c.1166-2A>T p.? Unknown 12:113094036-113094036 + T3090 COSM4679609 c.941+2_941+3insA p.? Unknown 12:113078107-113078108 + Pat_27_B COSM356740 c.366T>G p.D122E Substitution - Missense 12:113077530-113077530 + LS180 COSM1949091 c.1210delA p.N405fs*197 Deletion - Frameshift 12:113094082-113094082 + B22 COSM1756763 c.1166-2A>T p.? Unknown 12:113094036-113094036 + SNUH_G76_S1 COSM4416887 c.1569C>T p.P523P Substitution - coding silent 12:113095345-113095345 + TCGA-A7-A5ZW-01 COSM4391372 c.1715C>A p.S572* Substitution - Nonsense 12:113096791-113096791 + HCC137T COSM1605598 c.1595T>G p.F532C Substitution - Missense 12:113095371-113095371 + TCGA-GF-A6C9-06 COSM4900487 c.1591G>A p.G531R Substitution - Missense 12:113095367-113095367 + TCGA-EE-A2GU-06 COSM3456356 c.252G>A p.Q84Q Substitution - coding silent 12:113058444-113058444 + CSCC-27-T COSM4523670 c.1228G>A p.D410N Substitution - Missense 12:113094789-113094789 + T3670 COSM4679611 c.1800C>A p.Y600* Substitution - Nonsense 12:113096876-113096876 + 100942 COSM94145 c.1724T>C p.V575A Substitution - Missense 12:113096800-113096800 + TCGA-KK-A59V-01 COSM4878305 c.1690G>A p.G564S Substitution - Missense 12:113096766-113096766 + TCGA-AX-A0J1-01 COSM935360 c.1645C>T p.R549W Substitution - Missense 12:113096721-113096721 + T3080 COSM4679607 c.170G>A p.R57H Substitution - Missense 12:113058362-113058362 + TCGA-B5-A0JY-01 COSM935357 c.1189C>T p.R397* Substitution - Nonsense 12:113094061-113094061 + TCGA-BR-A4QL-01 COSM4038932 c.267G>A p.M89I Substitution - Missense 12:113077431-113077431 + TCGA-06-0141-01 COSM356740 c.366T>G p.D122E Substitution - Missense 12:113077530-113077530 + 100701 COSM95832 c.1494C>T p.G498G Substitution - coding silent 12:113095149-113095149 + TCGA-AA-3811-01 COSM293729 c.1646G>A p.R549Q Substitution - Missense 12:113096722-113096722 + CHC429T COSM217002 c.1232G>A p.C411Y Substitution - Missense 12:113094793-113094793 + S02241 COSM5676755 c.13G>T p.G5C Substitution - Missense 12:113058205-113058205 + BCB301T COSM4790546 c.1722C>T p.T574T Substitution - coding silent 12:113096798-113096798 + 052-0103-01TD COSM145349 c.90G>A p.W30* Substitution - Nonsense 12:113058282-113058282 + HCC059T COSM5809848 c.1622A>C p.N541T Substitution - Missense 12:113095398-113095398 + TCGA-AR-A2LE-01 COSM3811091 c.963G>A p.K321K Substitution - coding silent 12:113093183-113093183 + TCGA-BR-8487-01 COSM4038940 c.1641G>A p.V547V Substitution - coding silent 12:113096717-113096717 + CSCC-40-T COSM4467474 c.1491C>T p.P497P Substitution - coding silent 12:113095146-113095146 + CN-AML-CR-50-Dx COSM5428490 c.123G>A p.T41T Substitution - coding silent 12:113058315-113058315 + tumor_4190784 COSM5949844 c.259+5G>A p.? Unknown 12:113058456-113058456 + CHC429T COSM217002 c.1232G>A p.C411Y Substitution - Missense 12:113094793-113094793 + TCGA-CA-6717-01 COSM1358940 c.1517G>A p.R506H Substitution - Missense 12:113095172-113095172 + TCGA-CD-8531-01 COSM4038930 c.244T>C p.F82L Substitution - Missense 12:113058436-113058436 + tumor_4121361 COSM3356283 c.54A>G p.P18P Substitution - coding silent 12:113058246-113058246 + LUAD-CHTN-3090346 COSM356740 c.366T>G p.D122E Substitution - Missense 12:113077530-113077530 + PTC-7C COSM5446379 c.1468_1469insT p.H490fs*12 Insertion - Frameshift 12:113095123-113095124 + TCGA-AZ-6601-01 COSM1358941 c.1617C>A p.P539P Substitution - coding silent 12:113095393-113095393 + TCGA-CK-4951-01 COSM5148056 c.294C>T p.D98D Substitution - coding silent 12:113077458-113077458 + 9087_T COSM5040827 c.1759G>C p.G587R Substitution - Missense 12:113096835-113096835 + tumor_4135099 COSM3952869 c.150C>T p.N50N Substitution - coding silent 12:113058342-113058342 + J76_T COSM3954213 c.1328G>A p.R443H Substitution - Missense 12:113094889-113094889 + CSCC-62-T COSM4463940 c.1311C>T p.L437L Substitution - coding silent 12:113094872-113094872 + TCGA-AN-A0FX-01 COSM430384 c.7C>G p.R3G Substitution - Missense 12:113058199-113058199 + TCGA-BR-4256-01 COSM1949096 c.1448C>T p.P483L Substitution - Missense 12:113095103-113095103 + BCB301T COSM4790546 c.1722C>T p.T574T Substitution - coding silent 12:113096798-113096798 + CSCC-27-T COSM4530827 c.1731G>A p.W577* Substitution - Nonsense 12:113096807-113096807 + TCGA-AP-A0LH-01 COSM935353 c.179_180insC p.V61fs*126 Insertion - Frameshift 12:113058371-113058372 + S00829 COSM5659898 c.1119C>T p.G373G Substitution - coding silent 12:113093654-113093654 + TCGA-DK-A1AC-01 COSM1298942 c.1461G>A p.M487I Substitution - Missense 12:113095116-113095116 + TCGA-B5-A11E-01 COSM935359 c.1449G>A p.P483P Substitution - coding silent 12:113095104-113095104 + SNU-175 COSM4650286 c.526G>A p.A176T Substitution - Missense 12:113077690-113077690 + TCGA-KK-A6E7-01 COSM356740 c.366T>G p.D122E Substitution - Missense 12:113077530-113077530 + WSU-HN8 COSM4602617 c.1552C>A p.P518T Substitution - Missense 12:113095328-113095328 + RK180_C02 COSM1628394 c.1666G>T p.E556* Substitution - Nonsense 12:113096742-113096742 + sysucc-1370T COSM5469888 c.1761A>G p.G587G Substitution - coding silent 12:113096837-113096837 + CHC1743T COSM4805652 c.1557G>T p.E519D Substitution - Missense 12:113095333-113095333 + HN_62426 COSM122727 c.1341G>A p.M447I Substitution - Missense 12:113094902-113094902 + JEKO-1 COSM1739993 c.1823T>G p.L608R Substitution - Missense 12:113096899-113096899 + TCGA-EL-A3N3-01 COSM3368658 c.1360G>C p.V454L Substitution - Missense 12:113094921-113094921 + tumor_4176133 COSM3356284 c.120C>A p.Y40* Substitution - Nonsense 12:113058312-113058312 + LS411 COSM1949085 c.472C>T p.Q158* Substitution - Nonsense 12:113077636-113077636 + Pat_14_A COSM356740 c.366T>G p.D122E Substitution - Missense 12:113077530-113077530 + MO_1128 COSM5567465 c.471G>A p.S157S Substitution - coding silent 12:113077635-113077635 + TCGA-A3-3374-01 COSM1492815 c.1289A>G p.H430R Substitution - Missense 12:113094850-113094850 + TCGA-EE-A2A2-06 COSM3456359 c.1246G>A p.E416K Substitution - Missense 12:113094807-113094807 + SC_9021 COSM5566456 c.171C>T p.R57R Substitution - coding silent 12:113058363-113058363 + TCGA-EE-A2GO-06 COSM3456365 c.1603C>T p.H535Y Substitution - Missense 12:113095379-113095379 + TCGA-CZ-5986-01 COSM295876 c.360C>A p.A120A Substitution - coding silent 12:113077524-113077524 + LUAD-S01478 COSM356740 c.366T>G p.D122E Substitution - Missense 12:113077530-113077530 + TCGA-EK-A3GK-01 COSM4853562 c.1190G>T p.R397L Substitution - Missense 12:113094062-113094062 + PTC-28C COSM4146657 c.1280T>A p.V427E Substitution - Missense 12:113094841-113094841 + 40_tFL COSM4170368 c.40G>A p.G14S Substitution - Missense 12:113058232-113058232 + TCGA-EE-A2MR-06 COSM3456364 c.1467C>T p.F489F Substitution - coding silent 12:113095122-113095122 + tumor_4121361 COSM3356285 c.205C>A p.L69I Substitution - Missense 12:113058397-113058397 + PCSI_0083_Pa_P_526 COSM935358 c.1436C>T p.T479M Substitution - Missense 12:113095091-113095091 + TCGA-EE-A2M5-06 COSM3456357 c.253G>A p.D85N Substitution - Missense 12:113058445-113058445 + TCGA-HC-7820-01 COSM4393369 c.1526A>G p.Y509C Substitution - Missense 12:113095181-113095181 + TCGA-A6-2676-01 COSM291124 c.1601G>A p.R534H Substitution - Missense 12:113095377-113095377 + 13464 COSM4944036 c.701C>T p.P234L Substitution - Missense 12:113077865-113077865 + LUAD-5V8LT COSM401385 c.57G>A p.P19P Substitution - coding silent 12:113058249-113058249 + CLL151 COSM1289685 c.93G>C p.L31L Substitution - coding silent 12:113058285-113058285 + tumor_4166706 COSM3952868 c.135C>T p.C45C Substitution - coding silent 12:113058327-113058327 + 19M COSM5578451 c.1774G>A p.G592S Substitution - Missense 12:113096850-113096850 + TCGA-10-0933-01 COSM74456 c.1792G>A p.A598T Substitution - Missense 12:113096868-113096868 + TCGA-EE-A3J5-06 COSM3456362 c.1454G>A p.G485E Substitution - Missense 12:113095109-113095109 + HCC137 COSM1605598 c.1595T>G p.F532C Substitution - Missense 12:113095371-113095371 + TCGA-FW-A3R5-06 COSM3870779 c.1497C>T p.F499F Substitution - coding silent 12:113095152-113095152 + TCGA-BS-A0UV-01 COSM935354 c.421G>A p.D141N Substitution - Missense 12:113077585-113077585 + TCGA-A5-A0R9-01 COSM935355 c.506T>C p.L169P Substitution - Missense 12:113077670-113077670 + TCGA-AA-3664-01 COSM292563 c.309G>A p.P103P Substitution - coding silent 12:113077473-113077473 + CHC912T COSM4806479 c.863C>A p.T288N Substitution - Missense 12:113078027-113078027 + TCGA-BS-A0U9-01 COSM935356 c.1131G>T p.V377V Substitution - coding silent 12:113093666-113093666 + ccRCC-70 COSM1661596 c.1687A>G p.I563V Substitution - Missense 12:113096763-113096763 + T3090 COSM4679607 c.170G>A p.R57H Substitution - Missense 12:113058362-113058362 + TCGA-AA-3856-01 COSM295876 c.360C>A p.A120A Substitution - coding silent 12:113077524-113077524 + TCGA-D1-A0ZP-01 COSM935361 c.1779C>T p.H593H Substitution - coding silent 12:113096855-113096855 + TCGA-EE-A2M5-06 COSM3870781 c.1693A>C p.T565P Substitution - Missense 12:113096769-113096769 + Pat_06_B COSM5840185 c.1439G>A p.G480D Substitution - Missense 12:113095094-113095094 + TCGA-CK-4951-01 COSM5148058 c.1596C>T p.F532F Substitution - coding silent 12:113095372-113095372 + T3021 COSM4679608 c.364G>A p.D122N Substitution - Missense 12:113077528-113077528 + TCGA-HU-A4GQ-01 COSM4038941 c.1642C>T p.L548L Substitution - coding silent 12:113096718-113096718 + TCGA-22-0944-01 COSM692015 c.1059C>G p.A353A Substitution - coding silent 12:113093594-113093594 + TCGA-DB-A4XC-01 COSM3967995 c.389A>G p.Q130R Substitution - Missense 12:113077553-113077553 + ACINAR28 COSM1732868 c.1837G>A p.V613I Substitution - Missense 12:113096913-113096913 + DLBCL799 COSM1580821 c.47G>A p.G16D Substitution - Missense 12:113058239-113058239 + TCGA-AP-A0LM-01 COSM935358 c.1436C>T p.T479M Substitution - Missense 12:113095091-113095091 + TCGA-ER-A198-06 COSM3456366 c.1680C>T p.I560I Substitution - coding silent 12:113096756-113096756 + TCGA-CD-8536-01 COSM4038928 c.122C>T p.T41M Substitution - Missense 12:113058314-113058314 + BD57T COSM5510632 c.1437G>A p.T479T Substitution - coding silent 12:113095092-113095092 + tumor_4176133 COSM3356286 c.208G>C p.V70L Substitution - Missense 12:113058400-113058400 + tumor_4145056 COSM5950141 c.88T>G p.W30G Substitution - Missense 12:113058280-113058280 + tumor_4166706 COSM3952870 c.205C>T p.L69F Substitution - Missense 12:113058397-113058397 + TCGA-CD-A4MG-01 COSM4038933 c.280C>T p.R94C Substitution - Missense 12:113077444-113077444 + B112-Tumor COSM3931537 c.115C>T p.P39S Substitution - Missense 12:113058307-113058307 + PCSI0047 COSM935354 c.421G>A p.D141N Substitution - Missense 12:113077585-113077585 + CHC429T COSM217002 c.1232G>A p.C411Y Substitution - Missense 12:113094793-113094793 + PT35 COSM3456355 c.247C>T p.R83C Substitution - Missense 12:113058439-113058439 + Br27P COSM40043 c.423C>T p.D141D Substitution - coding silent 12:113077587-113077587 + sysucc-311T COSM5477998 c.1193G>T p.R398I Substitution - Missense 12:113094065-113094065 + C086 COSM5530244 c.5C>T p.S2L Substitution - Missense 12:113058197-113058197 + tumor_4107137 COSM3356287 c.545G>A p.G182D Substitution - Missense 12:113077709-113077709 + LS174T COSM1949091 c.1210delA p.N405fs*197 Deletion - Frameshift 12:113094082-113094082 + TCGA-BR-7851-01 COSM4038937 c.413C>T p.P138L Substitution - Missense 12:113077577-113077577 + TCGA-B7-5816-01 COSM4038934 c.305C>T p.A102V Substitution - Missense 12:113077469-113077469 + TCGA-IR-A3LA-01 COSM4845645 c.1716G>C p.S572S Substitution - coding silent 12:113096792-113096792 + TCGA-EE-A2MF-06 COSM4893280 c.1359C>T p.L453L Substitution - coding silent 12:113094920-113094920 + BD57T COSM5510630 c.199G>A p.A67T Substitution - Missense 12:113058391-113058391 + 18_tFL COSM4170370 c.100C>T p.H34Y Substitution - Missense 12:113058292-113058292 + S00936 COSM310750 c.69C>A p.A23A Substitution - coding silent 12:113058261-113058261 + 40_tFL COSM4170371 c.148A>G p.N50D Substitution - Missense 12:113058340-113058340 + TCGA-AU-6004-01 COSM1358939 c.363C>T p.Y121Y Substitution - coding silent 12:113077527-113077527 + TCGA-AM-5821-01 COSM430387 c.1251A>G p.R417R Substitution - coding silent 12:113094812-113094812 + TCGA-BR-6852-01 COSM4038931 c.265A>G p.M89V Substitution - Missense 12:113077429-113077429 + DLBCL799 COSM1580822 c.128C>T p.T43I Substitution - Missense 12:113058320-113058320 + TCGA-CW-5589-01 COSM467827 c.1174C>G p.P392A Substitution - Missense 12:113094046-113094046 + BD57T COSM5510631 c.844G>A p.A282T Substitution - Missense 12:113078008-113078008 + TCGA-CK-4951-01 COSM5148057 c.302C>A p.S101* Substitution - Nonsense 12:113077466-113077466 + TCGA-AA-3516-01 COSM291556 c.1805A>G p.D602G Substitution - Missense 12:113096881-113096881 + pfg181T COSM4760285 c.346G>A p.G116S Substitution - Missense 12:113077510-113077510 + OSCC-GB_00570111 COSM4889969 c.533C>A p.P178Q Substitution - Missense 12:113077697-113077697 + TCGA-CD-A4MG-01 COSM4038936 c.400G>A p.E134K Substitution - Missense 12:113077564-113077564 + 052 COSM145349 c.90G>A p.W30* Substitution - Nonsense 12:113058282-113058282 + TCGA-EE-A17X-06 COSM356740 c.366T>G p.D122E Substitution - Missense 12:113077530-113077530 + CHC1743T COSM4805652 c.1557G>T p.E519D Substitution - Missense 12:113095333-113095333 + TCGA-D1-A16X-01 COSM935357 c.1189C>T p.R397* Substitution - Nonsense 12:113094061-113094061 + TCGA-BH-A0DZ-01 COSM430386 c.450C>T p.L150L Substitution - coding silent 12:113077614-113077614 + LUAD-F00121 COSM365660 c.172G>T p.G58C Substitution - Missense 12:113058364-113058364 + TCGA-FS-A1ZA-06 COSM3456363 c.1455G>A p.G485G Substitution - coding silent 12:113095110-113095110 + TCGA-A6-5667-01 COSM3687968 c.130G>A p.V44M Substitution - Missense 12:113058322-113058322 + TCGA-AQ-A04J-01 COSM3811089 c.654C>G p.I218M Substitution - Missense 12:113077818-113077818 + PCSI_0062_Pa_X COSM3376052 c.1285C>T p.R429W Substitution - Missense 12:113094846-113094846 + 1_tFL COSM4170373 c.715G>A p.G239R Substitution - Missense 12:113077879-113077879 + ACINAR29 COSM1732866 c.354G>T p.W118C Substitution - Missense 12:113077518-113077518 + LIM2551 COSM4643651 c.345C>T p.G115G Substitution - coding silent 12:113077509-113077509 + TCGA-J8-A3NZ-01 COSM3368659 c.1581C>A p.F527L Substitution - Missense 12:113095357-113095357 + LPJ041 COSM1316067 c.460A>G p.N154D Substitution - Missense 12:113077624-113077624 + tumor_4166706 COSM3952867 c.37A>G p.N13D Substitution - Missense 12:113058229-113058229 + sysucc-1421T COSM5483303 c.1788G>A p.P596P Substitution - coding silent 12:113096864-113096864 + PTC-1C COSM1949071 c.248G>T p.R83L Substitution - Missense 12:113058440-113058440 + DLBCL1020 COSM1580825 c.1420A>G p.I474V Substitution - Missense 12:113095075-113095075 + TCGA-FW-A3R5-06 COSM3870780 c.1512C>T p.T504T Substitution - coding silent 12:113095167-113095167 + 2292380 COSM4609972 c.181G>C p.V61L Substitution - Missense 12:113058373-113058373 + TCGA-AA-3542-01 COSM291993 c.1429G>C p.E477Q Substitution - Missense 12:113095084-113095084 + TCGA-GV-A3QK-01 COSM3792214 c.490C>T p.R164C Substitution - Missense 12:113077654-113077654 + CSCC-20-T COSM4468255 c.1534C>T p.P512S Substitution - Missense 12:113095189-113095189 + CSCC-31-T COSM4529419 c.160G>A p.E54K Substitution - Missense 12:113058352-113058352 + TCGA-HU-A4GQ-01 COSM4038938 c.1231T>C p.C411R Substitution - Missense 12:113094792-113094792 + TCGA-E2-A14Z-01 COSM430388 c.1298T>A p.V433E Substitution - Missense 12:113094859-113094859 + tumor_4176133 COSM5948220 c.93G>A p.L31L Substitution - coding silent 12:113058285-113058285 + PR-09-3566 COSM244161 c.1165+2T>A p.? Unknown 12:113093702-113093702 + MI4 COSM1165205 c.107G>A p.R36H Substitution - Missense 12:113058299-113058299 + TCGA-CJ-4881-01 COSM3359556 c.1213A>C p.N405H Substitution - Missense 12:113094085-113094085 + TCGA-A4-8311-01 COSM935362 c.1791C>T p.D597D Substitution - coding silent 12:113096867-113096867 + 23_tFL COSM4170372 c.577G>A p.G193S Substitution - Missense 12:113077741-113077741 + TCGA-EB-A430-01 COSM3456364 c.1467C>T p.F489F Substitution - coding silent 12:113095122-113095122 + STC232 COSM3792215 c.1426G>A p.G476R Substitution - Missense 12:113095081-113095081 + WA16 COSM239659 c.1634G>A p.R545Q Substitution - Missense 12:113095410-113095410 + TCGA-AQ-A04J-01 COSM3811090 c.655C>T p.L219L Substitution - coding silent 12:113077819-113077819 + CSCC-6-T COSM4468024 c.1521C>T p.I507I Substitution - coding silent 12:113095176-113095176 + PT08_1 COSM3456361 c.1427G>A p.G476E Substitution - Missense 12:113095082-113095082 + TCGA-CD-8531-01 COSM4038929 c.173G>C p.G58A Substitution - Missense 12:113058365-113058365 + 587338 COSM1204680 c.56C>T p.P19L Substitution - Missense 12:113058248-113058248 + TCGA-EE-A2A2-06 COSM3456355 c.247C>T p.R83C Substitution - Missense 12:113058439-113058439 + TCGA-DK-A1AC-01 COSM1298941 c.1164G>C p.K388N Substitution - Missense 12:113093699-113093699 + 23_tFL COSM4170369 c.79G>A p.V27M Substitution - Missense 12:113058271-113058271 + TCGA-FD-A3SN-01 COSM3456358 c.288C>T p.F96F Substitution - coding silent 12:113077452-113077452 + SK-OV-3 COSM1677363 c.1136G>A p.R379H Substitution - Missense 12:113093671-113093671 + PD13753a COSM5793755 c.1842C>T p.S614S Substitution - coding silent 12:113096918-113096918 + T3147 COSM356740 c.366T>G p.D122E Substitution - Missense 12:113077530-113077530 + T3021 COSM4679610 c.1205A>G p.K402R Substitution - Missense 12:113094077-113094077 + TCGA-AA-A010-01 COSM280655 c.375C>A p.I125I Substitution - coding silent 12:113077539-113077539 + 723-03-2TD COSM5418981 c.1A>T p.M1L Substitution - Missense 12:113058193-113058193 + TCGA-FD-A3B3-01 COSM1298940 c.296C>G p.P99R Substitution - Missense 12:113077460-113077460 + pfg416T COSM4760283 c.7C>T p.R3W Substitution - Missense 12:113058199-113058199 + YUZINO COSM1706317 c.1174C>T p.P392S Substitution - Missense 12:113094046-113094046 + TCGA-BG-A0M2-01 COSM295876 c.360C>A p.A120A Substitution - coding silent 12:113077524-113077524 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.372152 12q24.13 602582

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.N405H c.1213A>C 12 113531890 RCCC A C Missense p.Q68P c.203A>C 12 113496200 CLL A C Missense p.T565P c.1693A>C 12 113534574 CM A G IntronicSNV . c.1638+178A>G 12 113533397 DLBCL A G Missense p.D573G c.1718A>G 12 113534599 MM A G Missense p.E556G c.1667A>G 12 113534548 MM A G Missense p.M89V c.265A>G 12 113515234 STAD A G Missense p.Y509C c.1526A>G 12 113532986 PRAD A G Synonymous p.P18P c.54A>G 12 113496051 DLBCL C A 3-UTRSNV . c.1860+39C>A 12 113534780 ESCA C A Missense p.L69I c.205C>A 12 113496202 DLBCL C A Missense p.P103Q c.308C>A 12 113515277 BRCA C A Synonymous p.A120A c.360C>A 12 113515329 COREAD C A Synonymous p.A120A c.360C>A 12 113515329 RCCC C A Synonymous p.A23A c.69C>A 12 113496066 SCLC C A Synonymous p.R93R c.277C>A 12 113515246 LUAD CC AG Missense p.T568K c.1703_1704delinsAG 12 113534584 LUAD - C Frameshift p.V61Rfs*126 c.180_181insC 12 113496177 UCEC C G Missense p.P392A c.1174C>G 12 113531851 RCCC C G Missense p.P99R c.296C>G 12 113515265 BLCA C G Missense p.R3G c.7C>G 12 113496004 BRCA C G Synonymous p.A353A c.1059C>G 12 113531399 LUSC C T Missense p.A102V c.305C>T 12 113515274 STAD C T Missense p.H535Y c.1603C>T 12 113533184 CM C T Missense p.P361L c.1082C>T 12 113531422 CM C T Missense p.P483L c.1448C>T 12 113532908 STAD C T Missense p.R440C c.1318C>T 12 113532684 BRCA C T Missense p.R57C c.169C>T 12 113496166 HNSC C T Missense p.R83C c.247C>T 12 113496244 CM C T Synonymous p.D141D c.423C>T 12 113515392 GBM C T Synonymous p.F96F c.288C>T 12 113515257 CM C T Synonymous p.G442G c.1326C>T 12 113532692 CM C T Synonymous p.H593H c.1779C>T 12 113534660 UCEC C T Synonymous p.I560I c.1680C>T 12 113534561 CM C T Synonymous p.L453L c.1359C>T 12 113532725 CM C T Synonymous p.Y133Y c.399C>T 12 113515368 HNSC G - 3-UTRDeletion . c.1860+609delG 12 113535350 CM G A Missense p.A56T c.166G>A 12 113496163 HNSC G A Missense p.A598T c.1792G>A 12 113534673 OV G A Missense p.C411Y c.1232G>A 12 113532598 HC G A Missense p.D85N c.253G>A 12 113496250 CM G A Missense p.E416K c.1246G>A 12 113532612 CM G A Missense p.G476E c.1427G>A 12 113532887 CM G A Missense p.G485E c.1454G>A 12 113532914 CM G A Missense p.M447I c.1341G>A 12 113532707 HNSC G A Missense p.M487I c.1461G>A 12 113532921 CM G A Synonymous p.G485G c.1455G>A 12 113532915 CM G A Synonymous p.P103P c.309G>A 12 113515278 COREAD G A Synonymous p.Q611Q c.1833G>A 12 113534714 CM G A Synonymous p.Q84Q c.252G>A 12 113496249 CM G C Missense p.E477Q c.1429G>C 12 113532889 COREAD G C Missense p.Q68H c.204G>C 12 113496201 MM G C Missense p.V454L c.1360G>C 12 113532726 THCA G C Missense p.W118S c.353G>C 12 113515322 LUAD G C Synonymous p.L31L c.93G>C 12 113496090 CLL G T 5-UTRSNV . c.1-480G>T 12 113495518 DLBCL G T Missense p.L323F c.969G>T 12 113530994 LUAD G T Synonymous p.V377V c.1131G>T 12 113531471 UCEC T A Missense p.V433E c.1298T>A 12 113532664 BRCA T C 3-UTRSNV . c.1860+1081T>C 12 113535822 DLBCL T C Missense p.L169P c.506T>C 12 113515475 UCEC T C Synonymous p.F586F c.1758T>C 12 113534639 MM T G Missense p.D122E c.366T>G 12 113515335 CM T G Missense p.D122E c.366T>G 12 113515335 GBM T G Missense p.D122E c.366T>G 12 113515335 HNSC