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 BLCA 13 41766515 41766515 + Nonsense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 g.chr13:41766515G>A c.1879C>T c.(1879-1881)Cag>Tag p.Q627* BLCA 13 41766572 41766572 + Missense_Mutation SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr13:41766572C>G c.1822G>C c.(1822-1824)Gac>Cac p.D608H BLCA 13 41766848 41766848 + Nonsense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr13:41766848G>A c.1546C>T c.(1546-1548)Cag>Tag p.Q516* BLCA 13 41766891 41766891 + Missense_Mutation SNP G G C TCGA-XF-A9SI-01A-11D-A391-08 TCGA-XF-A9SI-10A-01D-A394-08 g.chr13:41766891G>C c.1503C>G c.(1501-1503)caC>caG p.H501Q BLCA 13 41767323 41767323 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr13:41767323G>C c.1071C>G c.(1069-1071)ctC>ctG p.L357L BLCA 13 41767359 41767359 + Missense_Mutation SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 g.chr13:41767359C>A c.1035G>T c.(1033-1035)atG>atT p.M345I BLCA 13 41767785 41767785 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr13:41767785G>A c.609C>T c.(607-609)ctC>ctT p.L203L BLCA 13 41768138 41768138 + Missense_Mutation SNP G G C TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 g.chr13:41768138G>C c.256C>G c.(256-258)Cgc>Ggc p.R86G BLCA 13 41768192 41768192 + Missense_Mutation SNP C C G TCGA-GU-A42P-01A-11D-A23U-08 TCGA-GU-A42P-10A-01D-A23U-08 g.chr13:41768192C>G c.202G>C c.(202-204)Gag>Cag p.E68Q BRCA 13 41767027 41767027 + Missense_Mutation SNP C C A TCGA-AC-A5EH-01A-11D-A28B-09 TCGA-AC-A5EH-10A-01D-A28E-09 g.chr13:41767027C>A c.1367G>T c.(1366-1368)tGc>tTc p.C456F BRCA 13 41767525 41767525 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr13:41767525T>C c.869A>G c.(868-870)tAc>tGc p.Y290C BRCA 13 41767845 41767845 + Silent SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr13:41767845G>A c.549C>T c.(547-549)ttC>ttT p.F183F CESC 13 41766989 41766989 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr13:41766989G>A c.1405C>T c.(1405-1407)Cct>Tct p.P469S CESC 13 41768292 41768292 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr13:41768292G>A c.102C>T c.(100-102)ttC>ttT p.F34F CESC 13 41768355 41768355 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 g.chr13:41768355G>A c.39C>T c.(37-39)ctC>ctT p.L13L COAD 13 41766412 41766412 + Missense_Mutation SNP G G T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr13:41766412G>T c.1982C>A c.(1981-1983)tCt>tAt p.S661Y COAD 13 41766439 41766439 + Missense_Mutation SNP A A G TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr13:41766439A>G c.1955T>C c.(1954-1956)cTg>cCg p.L652P COAD 13 41766778 41766778 + Missense_Mutation SNP G G C TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr13:41766778G>C c.1616C>G c.(1615-1617)cCa>cGa p.P539R COAD 13 41767284 41767284 + Silent SNP T T C TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr13:41767284T>C c.1110A>G c.(1108-1110)ccA>ccG p.P370P COAD 13 41767328 41767328 + Missense_Mutation SNP A A C TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr13:41767328A>C c.1066T>G c.(1066-1068)Ttt>Gtt p.F356V COAD 13 41767338 41767338 + Silent SNP A A G TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr13:41767338A>G c.1056T>C c.(1054-1056)ccT>ccC p.P352P COAD 13 41767362 41767362 + Missense_Mutation SNP C C A TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr13:41767362C>A c.1032G>T c.(1030-1032)gaG>gaT p.E344D COAD 13 41767894 41767894 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr13:41767894C>T c.500G>A c.(499-501)cGt>cAt p.R167H COAD 13 41768028 41768028 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:41768028G>A c.366C>T c.(364-366)ttC>ttT p.F122F COAD 13 41768057 41768057 + Missense_Mutation SNP T T C TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr13:41768057T>C c.337A>G c.(337-339)Acc>Gcc p.T113A COADREAD 13 41766412 41766412 + Missense_Mutation SNP G G T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr13:41766412G>T c.1982C>A c.(1981-1983)tCt>tAt p.S661Y COADREAD 13 41766439 41766439 + Missense_Mutation SNP A A G TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr13:41766439A>G c.1955T>C c.(1954-1956)cTg>cCg p.L652P COADREAD 13 41766758 41766758 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:41766758G>A c.1636C>T c.(1636-1638)Cgg>Tgg p.R546W COADREAD 13 41766778 41766778 + Missense_Mutation SNP G G C TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr13:41766778G>C c.1616C>G c.(1615-1617)cCa>cGa p.P539R COADREAD 13 41767120 41767120 + Missense_Mutation SNP C C T TCGA-F5-6465-01A-11D-1733-10 TCGA-F5-6465-10A-01D-1733-10 g.chr13:41767120C>T c.1274G>A c.(1273-1275)cGt>cAt p.R425H COADREAD 13 41767132 41767132 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:41767132C>T c.1262G>A c.(1261-1263)cGc>cAc p.R421H COADREAD 13 41767284 41767284 + Silent SNP T T C TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr13:41767284T>C c.1110A>G c.(1108-1110)ccA>ccG p.P370P COADREAD 13 41767328 41767328 + Missense_Mutation SNP A A C TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr13:41767328A>C c.1066T>G c.(1066-1068)Ttt>Gtt p.F356V COADREAD 13 41767338 41767338 + Silent SNP A A G TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr13:41767338A>G c.1056T>C c.(1054-1056)ccT>ccC p.P352P COADREAD 13 41767362 41767362 + Missense_Mutation SNP C C A TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr13:41767362C>A c.1032G>T c.(1030-1032)gaG>gaT p.E344D COADREAD 13 41767894 41767894 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr13:41767894C>T c.500G>A c.(499-501)cGt>cAt p.R167H COADREAD 13 41768028 41768028 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:41768028G>A c.366C>T c.(364-366)ttC>ttT p.F122F COADREAD 13 41768057 41768057 + Missense_Mutation SNP T T C TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr13:41768057T>C c.337A>G c.(337-339)Acc>Gcc p.T113A ESCA 13 41766370 41766370 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 g.chr13:41766370C>T c.2024G>A c.(2023-2025)cGa>cAa p.R675Q ESCA 13 41767331 41767331 + Missense_Mutation SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 g.chr13:41767331G>A c.1063C>T c.(1063-1065)Ccc>Tcc p.P355S ESCA 13 41767432 41767434 + In_Frame_Del DEL CTG CTG - TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 g.chr13:41767432_41767434delCTG c.960_962delCAG c.(958-963)agcagt>agt p.320_321SS>S GBMLGG 13 41766997 41766997 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:41766997A>G c.1397T>C c.(1396-1398)tTg>tCg p.L466S GBMLGG 13 41767128 41767128 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:41767128C>T c.1266G>A c.(1264-1266)ttG>ttA p.L422L GBMLGG 13 41768288 41768288 + Missense_Mutation SNP C C T TCGA-S9-A6WL-01A-21D-A33T-08 TCGA-S9-A6WL-10A-01D-A33W-08 g.chr13:41768288C>T c.106G>A c.(106-108)Ggt>Agt p.G36S HNSC 13 41767771 41767771 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 g.chr13:41767771G>A c.623C>T c.(622-624)tCa>tTa p.S208L HNSC 13 41767894 41767894 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 g.chr13:41767894C>T c.500G>A c.(499-501)cGt>cAt p.R167H KIPAN 13 41767262 41767262 + Missense_Mutation SNP G G T TCGA-B0-5110-01A-01D-1421-08 TCGA-B0-5110-11A-01D-1421-08 g.chr13:41767262G>T c.1132C>A c.(1132-1134)Cac>Aac p.H378N KIPAN 13 41767953 41767953 + Silent SNP G G A TCGA-DW-7841-01A-11D-2136-08 TCGA-DW-7841-10A-01D-2136-08 g.chr13:41767953G>A c.441C>T c.(439-441)gcC>gcT p.A147A KIRC 13 41767262 41767262 + Missense_Mutation SNP G G T TCGA-B0-5110-01A-01D-1421-08 TCGA-B0-5110-11A-01D-1421-08 g.chr13:41767262G>T c.1132C>A c.(1132-1134)Cac>Aac p.H378N KIRP 13 41767953 41767953 + Silent SNP G G A TCGA-DW-7841-01A-11D-2136-08 TCGA-DW-7841-10A-01D-2136-08 g.chr13:41767953G>A c.441C>T c.(439-441)gcC>gcT p.A147A LGG 13 41766997 41766997 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:41766997A>G c.1397T>C c.(1396-1398)tTg>tCg p.L466S LGG 13 41767128 41767128 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:41767128C>T c.1266G>A c.(1264-1266)ttG>ttA p.L422L LGG 13 41768288 41768288 + Missense_Mutation SNP C C T TCGA-S9-A6WL-01A-21D-A33T-08 TCGA-S9-A6WL-10A-01D-A33W-08 g.chr13:41768288C>T c.106G>A c.(106-108)Ggt>Agt p.G36S LIHC 13 41766715 41766715 + Missense_Mutation SNP T T C TCGA-DD-A4NI-01A-11D-A27I-10 TCGA-DD-A4NI-10A-01D-A27I-10 g.chr13:41766715T>C c.1679A>G c.(1678-1680)cAg>cGg p.Q560R LIHC 13 41768100 41768100 + Missense_Mutation SNP G G T TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr13:41768100G>T c.294C>A c.(292-294)agC>agA p.S98R LUAD 13 41766583 41766583 + Missense_Mutation SNP A A G TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 g.chr13:41766583A>G c.1811T>C c.(1810-1812)cTt>cCt p.L604P LUAD 13 41767837 41767837 + Missense_Mutation SNP T T C TCGA-55-8087-01A-11D-2238-08 TCGA-55-8087-10A-01D-2238-08 g.chr13:41767837T>C c.557A>G c.(556-558)cAc>cGc p.H186R LUAD 13 41767966 41767966 + Missense_Mutation SNP C C A TCGA-69-7765-01A-11D-2167-08 TCGA-69-7765-10A-01D-2167-08 g.chr13:41767966C>A c.428G>T c.(427-429)cGc>cTc p.R143L LUAD 13 41768245 41768245 + Missense_Mutation SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr13:41768245A>G c.149T>C c.(148-150)cTg>cCg p.L50P LUAD 13 41768338 41768338 + Missense_Mutation SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 g.chr13:41768338C>T c.56G>A c.(55-57)gGg>gAg p.G19E LUSC 13 41766967 41766967 + Missense_Mutation SNP G G C TCGA-34-2600-01A-01D-1522-08 TCGA-34-2600-11A-01D-1522-08 g.chr13:41766967G>C c.1427C>G c.(1426-1428)tCc>tGc p.S476C LUSC 13 41767240 41767240 + Nonsense_Mutation SNP G G T TCGA-34-2600-01A-01D-1522-08 TCGA-34-2600-11A-01D-1522-08 g.chr13:41767240G>T c.1154C>A c.(1153-1155)tCa>tAa p.S385* OV 13 41766661 41766661 + Missense_Mutation SNP C C G TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 g.chr13:41766661C>G c.1733G>C c.(1732-1734)tGg>tCg p.W578S OV 13 41766912 41766912 + Missense_Mutation SNP C C T TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 g.chr13:41766912C>T c.1482G>A c.(1480-1482)atG>atA p.M494I OV 13 41767783 41767783 + Missense_Mutation SNP C C A TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 g.chr13:41767783C>A c.611G>T c.(610-612)aGc>aTc p.S204I PAAD 13 41766701 41766701 + Missense_Mutation SNP C C A TCGA-YB-A89D-01A-12D-A36O-08 TCGA-YB-A89D-10A-01D-A367-08 g.chr13:41766701C>A c.1693G>T c.(1693-1695)Gac>Tac p.D565Y PAAD 13 41767432 41767434 + In_Frame_Del DEL CTG CTG - TCGA-HV-A7OP-01A-11D-A33T-08 TCGA-HV-A7OP-10A-01D-A33W-08 g.chr13:41767432_41767434delCTG c.960_962delCAG c.(958-963)agcagt>agt p.320_321SS>S PRAD 13 41766371 41766371 + Nonsense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr13:41766371G>A c.2023C>T c.(2023-2025)Cga>Tga p.R675* PRAD 13 41766626 41766626 + Missense_Mutation SNP T T C TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr13:41766626T>C c.1768A>G c.(1768-1770)Act>Gct p.T590A PRAD 13 41767137 41767137 + Frame_Shift_Del DEL T T - TCGA-FC-A4JI-01A-11D-A257-08 TCGA-FC-A4JI-10A-01D-A25A-08 g.chr13:41767137delT c.1257delA c.(1255-1257)gcafs p.A419fs PRAD 13 41767598 41767598 + Missense_Mutation SNP G G A TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr13:41767598G>A c.796C>T c.(796-798)Cgc>Tgc p.R266C PRAD 13 41767606 41767606 + Missense_Mutation SNP T T C TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 g.chr13:41767606T>C c.788A>G c.(787-789)aAg>aGg p.K263R PRAD 13 41768203 41768203 + Missense_Mutation SNP T T A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr13:41768203T>A c.191A>T c.(190-192)gAt>gTt p.D64V READ 13 41766758 41766758 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:41766758G>A c.1636C>T c.(1636-1638)Cgg>Tgg p.R546W READ 13 41767120 41767120 + Missense_Mutation SNP C C T TCGA-F5-6465-01A-11D-1733-10 TCGA-F5-6465-10A-01D-1733-10 g.chr13:41767120C>T c.1274G>A c.(1273-1275)cGt>cAt p.R425H READ 13 41767132 41767132 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:41767132C>T c.1262G>A c.(1261-1263)cGc>cAc p.R421H SARC 13 41766984 41766984 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr13:41766984G>A c.1410C>T c.(1408-1410)gtC>gtT p.V470V SARC 13 41767967 41767967 + Missense_Mutation SNP G G A TCGA-IS-A3K8-01A-11D-A21Q-09 TCGA-IS-A3K8-10A-01D-A21Q-09 g.chr13:41767967G>A c.427C>T c.(427-429)Cgc>Tgc p.R143C SKCM 13 41766536 41766536 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 g.chr13:41766536G>A c.1858C>T c.(1858-1860)Cct>Tct p.P620S SKCM 13 41766769 41766769 + Missense_Mutation SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr13:41766769C>T c.1625G>A c.(1624-1626)gGa>gAa p.G542E SKCM 13 41767060 41767060 + Missense_Mutation SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr13:41767060G>A c.1334C>T c.(1333-1335)cCt>cTt p.P445L SKCM 13 41767765 41767765 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr13:41767765C>T c.629G>A c.(628-630)cGg>cAg p.R210Q SKCM 13 41767908 41767908 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr13:41767908G>A c.486C>T c.(484-486)tcC>tcT p.S162S SKCM 13 41768146 41768146 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr13:41768146G>A c.248C>T c.(247-249)tCc>tTc p.S83F SKCM 13 41768229 41768229 + Silent SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr13:41768229G>A c.165C>T c.(163-165)tcC>tcT p.S55S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 13 41767305 41767305 single base substitution C T synonymous_variant S363S 1089G>A BLCA-US 13 41766515 41766515 single base substitution G A stop_gained Q627* 1879C>T BLCA-US 13 41766848 41766848 single base substitution G A stop_gained Q516* 1546C>T BLCA-US 13 41767323 41767323 single base substitution G C synonymous_variant L357L 1071C>G BLCA-US 13 41767359 41767359 single base substitution C A missense_variant M345I 1035G>T BRCA-EU 13 41760297 41760297 single base substitution T C downstream_gene_variant BRCA-EU 13 41761600 41761600 single base substitution G A downstream_gene_variant BRCA-EU 13 41762759 41762759 single base substitution G A downstream_gene_variant BRCA-EU 13 41763563 41763563 single base substitution G C downstream_gene_variant BRCA-EU 13 41765225 41765225 single base substitution T C 3_prime_UTR_variant BRCA-EU 13 41769489 41769489 single base substitution C A upstream_gene_variant BRCA-EU 13 41769542 41769542 single base substitution G C upstream_gene_variant BRCA-EU 13 41769733 41769733 single base substitution G C upstream_gene_variant BRCA-EU 13 41770600 41770600 single base substitution C T upstream_gene_variant BRCA-EU 13 41771842 41771842 deletion of <=200bp A - upstream_gene_variant BRCA-EU 13 41772298 41772298 single base substitution C T upstream_gene_variant BRCA-EU 13 41772925 41772925 single base substitution A C upstream_gene_variant BRCA-EU 13 41773365 41773365 single base substitution G T upstream_gene_variant BRCA-EU 13 41773463 41773463 single base substitution C T upstream_gene_variant BRCA-UK 13 41771700 41771700 single base substitution G A upstream_gene_variant BRCA-US 13 41767525 41767525 single base substitution T C missense_variant Y290C 869A>G BRCA-US 13 41767845 41767845 single base substitution G A synonymous_variant F183F 549C>T CESC-US 13 41766989 41766989 single base substitution G A missense_variant P469S 1405C>T CESC-US 13 41768292 41768292 single base substitution G A synonymous_variant F34F 102C>T CESC-US 13 41768355 41768355 single base substitution G A synonymous_variant L13L 39C>T CLLE-ES 13 41772988 41772988 single base substitution G A upstream_gene_variant COAD-US 13 41766778 41766778 single base substitution G C missense_variant P539R 1616C>G COAD-US 13 41767284 41767284 single base substitution T C synonymous_variant P370P 1110A>G COAD-US 13 41767894 41767894 single base substitution C T missense_variant R167H 500G>A COAD-US 13 41768057 41768057 single base substitution T C missense_variant T113A 337A>G COCA-CN 13 41766274 41766274 single base substitution G T 3_prime_UTR_variant COCA-CN 13 41766278 41766278 single base substitution C T 3_prime_UTR_variant COCA-CN 13 41767803 41767803 single base substitution A C synonymous_variant A197A 591T>G COCA-CN 13 41767967 41767967 single base substitution G A missense_variant R143C 427C>T COCA-CN 13 41768028 41768028 single base substitution G A synonymous_variant F122F 366C>T COCA-CN 13 41768119 41768119 single base substitution G A missense_variant A92V 275C>T ESAD-UK 13 41759717 41759717 single base substitution A C downstream_gene_variant ESAD-UK 13 41761625 41761625 single base substitution G A downstream_gene_variant ESAD-UK 13 41762487 41762487 single base substitution C A downstream_gene_variant ESAD-UK 13 41762869 41762869 single base substitution A T downstream_gene_variant ESAD-UK 13 41763864 41763864 single base substitution T G downstream_gene_variant ESAD-UK 13 41766027 41766027 single base substitution A T 3_prime_UTR_variant ESAD-UK 13 41767262 41767262 single base substitution G C missense_variant H378D 1132C>G ESAD-UK 13 41768087 41768087 single base substitution C G missense_variant G103R 307G>C ESAD-UK 13 41771524 41771524 single base substitution C T upstream_gene_variant ESAD-UK 13 41771603 41771603 single base substitution G T upstream_gene_variant ESCA-CN 13 41767530 41767530 single base substitution C A missense_variant K288N 864G>T GACA-CN 13 41767193 41767193 single base substitution G A missense_variant P401S 1201C>T KIRC-US 13 41767262 41767262 single base substitution G T missense_variant H378N 1132C>A KIRP-US 13 41766948 41766948 single base substitution A T synonymous_variant V482V 1446T>A KIRP-US 13 41767953 41767953 single base substitution G A synonymous_variant A147A 441C>T LICA-CN 13 41767121 41767121 single base substitution G T missense_variant R425S 1273C>A LICA-FR 13 41766431 41766431 single base substitution C A stop_gained E655* 1963G>T LICA-FR 13 41767234 41767234 single base substitution A G missense_variant V387A 1160T>C LICA-FR 13 41767548 41767548 single base substitution C A synonymous_variant L282L 846G>T LICA-FR 13 41767733 41767733 single base substitution G A stop_gained Q221* 661C>T LIHC-US 13 41766715 41766715 single base substitution T C missense_variant Q560R 1679A>G LINC-JP 13 41767184 41767184 single base substitution C A missense_variant D404Y 1210G>T LINC-JP 13 41767809 41767809 single base substitution G T stop_gained Y195* 585C>A LINC-JP 13 41771596 41771596 single base substitution A C upstream_gene_variant LIRI-JP 13 41759196 41759196 single base substitution A G downstream_gene_variant LIRI-JP 13 41760279 41760279 single base substitution T C downstream_gene_variant LIRI-JP 13 41760840 41760840 single base substitution C A downstream_gene_variant LIRI-JP 13 41760939 41760939 single base substitution C A downstream_gene_variant LIRI-JP 13 41762817 41762817 single base substitution T G downstream_gene_variant LIRI-JP 13 41763111 41763111 single base substitution G C downstream_gene_variant LIRI-JP 13 41763410 41763410 single base substitution T A downstream_gene_variant LIRI-JP 13 41765893 41765893 single base substitution T C 3_prime_UTR_variant LIRI-JP 13 41766515 41766515 single base substitution G A stop_gained Q627* 1879C>T LIRI-JP 13 41770372 41770378 deletion of <=200bp TTAGATA - upstream_gene_variant LUSC-KR 13 41760730 41760730 single base substitution A T downstream_gene_variant LUSC-KR 13 41762835 41762835 single base substitution G C downstream_gene_variant LUSC-KR 13 41764787 41764787 single base substitution G A 3_prime_UTR_variant LUSC-KR 13 41767083 41767083 single base substitution G C missense_variant I437M 1311C>G LUSC-KR 13 41770932 41770932 single base substitution T A upstream_gene_variant LUSC-KR 13 41773246 41773246 single base substitution G C upstream_gene_variant LUSC-US 13 41766967 41766967 single base substitution G C missense_variant S476C 1427C>G LUSC-US 13 41767240 41767240 single base substitution G T stop_gained S385* 1154C>A MALY-DE 13 41764055 41764055 single base substitution C G 3_prime_UTR_variant MALY-DE 13 41770376 41770376 single base substitution A G upstream_gene_variant MELA-AU 13 41759231 41759231 single base substitution G A downstream_gene_variant MELA-AU 13 41759242 41759242 single base substitution C T downstream_gene_variant MELA-AU 13 41759533 41759534 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 13 41759907 41759907 single base substitution G C downstream_gene_variant MELA-AU 13 41760095 41760095 single base substitution T A downstream_gene_variant MELA-AU 13 41760128 41760128 single base substitution C T downstream_gene_variant MELA-AU 13 41760141 41760141 single base substitution C T downstream_gene_variant MELA-AU 13 41760226 41760226 single base substitution G A downstream_gene_variant MELA-AU 13 41760714 41760714 single base substitution C T downstream_gene_variant MELA-AU 13 41761074 41761074 single base substitution G A downstream_gene_variant MELA-AU 13 41761285 41761285 single base substitution C T downstream_gene_variant MELA-AU 13 41761452 41761452 single base substitution G A downstream_gene_variant MELA-AU 13 41761855 41761855 single base substitution G A downstream_gene_variant MELA-AU 13 41761933 41761933 single base substitution G A downstream_gene_variant MELA-AU 13 41761981 41761981 single base substitution C T downstream_gene_variant MELA-AU 13 41763130 41763130 single base substitution G A downstream_gene_variant MELA-AU 13 41763196 41763196 single base substitution A T downstream_gene_variant MELA-AU 13 41763695 41763695 single base substitution A T downstream_gene_variant MELA-AU 13 41763841 41763841 single base substitution G A downstream_gene_variant MELA-AU 13 41763885 41763885 single base substitution G A downstream_gene_variant MELA-AU 13 41763922 41763922 single base substitution G A downstream_gene_variant MELA-AU 13 41765596 41765596 single base substitution G A 3_prime_UTR_variant MELA-AU 13 41765653 41765653 single base substitution A C 3_prime_UTR_variant MELA-AU 13 41765673 41765673 single base substitution G A 3_prime_UTR_variant MELA-AU 13 41765989 41765989 single base substitution A G 3_prime_UTR_variant MELA-AU 13 41767256 41767256 single base substitution T C missense_variant K380E 1138A>G MELA-AU 13 41768077 41768077 single base substitution T C missense_variant E106G 317A>G MELA-AU 13 41768694 41768694 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 13 41768731 41768731 single base substitution G A upstream_gene_variant MELA-AU 13 41768750 41768750 single base substitution G A upstream_gene_variant MELA-AU 13 41769898 41769898 single base substitution C T upstream_gene_variant MELA-AU 13 41771540 41771540 single base substitution G A upstream_gene_variant MELA-AU 13 41771724 41771724 single base substitution G T upstream_gene_variant MELA-AU 13 41771888 41771888 single base substitution C A upstream_gene_variant MELA-AU 13 41772291 41772291 single base substitution C T upstream_gene_variant MELA-AU 13 41772358 41772358 single base substitution C T upstream_gene_variant MELA-AU 13 41773020 41773020 single base substitution G A upstream_gene_variant MELA-AU 13 41773162 41773162 single base substitution G A upstream_gene_variant MELA-AU 13 41773252 41773252 single base substitution T C upstream_gene_variant MELA-AU 13 41773341 41773341 single base substitution G A upstream_gene_variant MELA-AU 13 41773525 41773525 single base substitution T C upstream_gene_variant ORCA-IN 13 41767073 41767073 single base substitution C T missense_variant G441R 1321G>A OV-AU 13 41760249 41760249 single base substitution A G downstream_gene_variant OV-AU 13 41770477 41770477 single base substitution T C upstream_gene_variant OV-US 13 41766661 41766661 single base substitution C G missense_variant W578S 1733G>C OV-US 13 41767783 41767783 single base substitution C A missense_variant S204I 611G>T PACA-AU 13 41763080 41763080 single base substitution T G downstream_gene_variant PACA-AU 13 41768132 41768132 single base substitution C T missense_variant V88M 262G>A PACA-AU 13 41771356 41771356 single base substitution C T upstream_gene_variant PACA-CA 13 41759004 41759004 single base substitution G A downstream_gene_variant PACA-CA 13 41760868 41760868 single base substitution G A downstream_gene_variant PACA-CA 13 41762587 41762587 single base substitution A G downstream_gene_variant PACA-CA 13 41762898 41762898 single base substitution A G downstream_gene_variant PACA-CA 13 41766877 41766877 single base substitution T G missense_variant N506T 1517A>C PACA-CA 13 41772692 41772692 single base substitution G A upstream_gene_variant PBCA-DE 13 41759635 41759635 single base substitution A G downstream_gene_variant PBCA-DE 13 41767279 41767279 single base substitution G C missense_variant P372R 1115C>G PRAD-US 13 41767137 41767137 deletion of <=200bp T - frameshift_variant A419 PRAD-US 13 41767598 41767598 single base substitution G A missense_variant R266C 796C>T PRAD-US 13 41767606 41767606 single base substitution T C missense_variant K263R 788A>G READ-US 13 41767120 41767120 single base substitution C T missense_variant R425H 1274G>A RECA-EU 13 41765175 41765175 single base substitution G C 3_prime_UTR_variant RECA-EU 13 41765176 41765176 single base substitution C T 3_prime_UTR_variant RECA-EU 13 41770488 41770488 single base substitution T C upstream_gene_variant SKCA-BR 13 41761482 41761482 single base substitution A G downstream_gene_variant SKCA-BR 13 41768146 41768146 single base substitution G A missense_variant S83F 248C>T SKCA-BR 13 41769283 41769283 single base substitution C T upstream_gene_variant SKCM-US 13 41766536 41766536 single base substitution G A missense_variant P620S 1858C>T SKCM-US 13 41766769 41766769 single base substitution C T missense_variant G542E 1625G>A SKCM-US 13 41767060 41767060 single base substitution G A missense_variant P445L 1334C>T SKCM-US 13 41767331 41767331 single base substitution G A missense_variant P355S 1063C>T SKCM-US 13 41767765 41767765 single base substitution C T missense_variant R210Q 629G>A SKCM-US 13 41767908 41767908 single base substitution G A synonymous_variant S162S 486C>T SKCM-US 13 41768146 41768146 single base substitution G A missense_variant S83F 248C>T SKCM-US 13 41768229 41768229 single base substitution G A synonymous_variant S55S 165C>T STAD-US 13 41766424 41766437 deletion of <=200bp CCTGACTCAGAGTC - frameshift_variant DSESG653 STAD-US 13 41766772 41766775 deletion of <=200bp CTAG - frameshift_variant AR540 STAD-US 13 41766825 41766825 single base substitution A G synonymous_variant D523D 1569T>C STAD-US 13 41768040 41768040 single base substitution G A synonymous_variant D118D 354C>T STAD-US 13 41768160 41768160 single base substitution C T synonymous_variant T78T 234G>A UCEC-US 13 41766274 41766274 single base substitution G T 3_prime_UTR_variant UCEC-US 13 41766758 41766758 single base substitution G A missense_variant R546W 1636C>T UCEC-US 13 41767334 41767334 single base substitution C A missense_variant D354Y 1060G>T UCEC-US 13 41767417 41767417 single base substitution G T missense_variant S326Y 977C>A UCEC-US 13 41767494 41767494 single base substitution C A missense_variant Q300H 900G>T UCEC-US 13 41767598 41767598 single base substitution G A missense_variant R266C 796C>T UCEC-US 13 41767844 41767844 single base substitution C T missense_variant D184N 550G>A UCEC-US 13 41767896 41767896 single base substitution T C synonymous_variant R166R 498A>G UCEC-US 13 41767917 41767917 single base substitution G T synonymous_variant A159A 477C>A UCEC-US 13 41767925 41767925 single base substitution G A missense_variant R157W 469C>T UCEC-US 13 41768178 41768178 insertion of <=200bp - G frameshift_variant P72P? UCEC-US 13 41768223 41768223 single base substitution G A synonymous_variant Y57Y 171C>T UCEC-US 13 41768247 41768247 single base substitution C T synonymous_variant L49L 147G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CHC2099T COSM4793222 c.846G>T p.L282L Substitution - coding silent 13:41193412-41193412 - TCGA-61-2095-01 COSM111626 c.118_155del38 p.L40fs*12 Deletion - Frameshift 13:41194103-41194140 - TCGA-EB-A431-01 COSM3468902 c.1063C>T p.P355S Substitution - Missense 13:41193195-41193195 - AD31 COSM3955594 c.1422C>A p.F474L Substitution - Missense 13:41192836-41192836 - ZZUFHECRKL-G035T COSM5440330 c.864G>T p.K288N Substitution - Missense 13:41193394-41193394 - S02273 COSM5681609 c.1392G>T p.W464C Substitution - Missense 13:41192866-41192866 - TCGA-EJ-5516-01 COSM1128376 c.788A>G p.K263R Substitution - Missense 13:41193470-41193470 - ESCC_25 COSM5626631 c.254A>G p.N85S Substitution - Missense 13:41194004-41194004 - GC6_T COSM147675 c.1201C>T p.P401S Substitution - Missense 13:41193057-41193057 - 587284 COSM1211388 c.794T>C p.V265A Substitution - Missense 13:41193464-41193464 - 587254 COSM1211385 c.1489T>C p.Y497H Substitution - Missense 13:41192769-41192769 - TCGA-CM-5861-01 COSM1366899 c.1110A>G p.P370P Substitution - coding silent 13:41193148-41193148 - 19 COSM167824 c.1636C>T p.R546W Substitution - Missense 13:41192622-41192622 - CHC1137T COSM4803195 c.661C>T p.Q221* Substitution - Nonsense 13:41193597-41193597 - TCGA-34-2600-01 COSM696567 c.1427C>G p.S476C Substitution - Missense 13:41192831-41192831 - 587232 COSM1211387 c.1870G>A p.E624K Substitution - Missense 13:41192388-41192388 - sysucc-274T COSM5475725 c.275C>T p.A92V Substitution - Missense 13:41193983-41193983 - TCGA-DD-A4NI-01 COSM4926141 c.1679A>G p.Q560R Substitution - Missense 13:41192579-41192579 - HN_62421 COSM123840 c.202G>C p.E68Q Substitution - Missense 13:41194056-41194056 - 8068554 COSM4387863 c.262G>A p.V88M Substitution - Missense 13:41193996-41193996 - pfg043T COSM4753604 c.1420T>G p.F474V Substitution - Missense 13:41192838-41192838 - sysucc-1370T COSM1255213 c.427C>T p.R143C Substitution - Missense 13:41193831-41193831 - TCGA-CU-A3KJ-01 COSM1300202 c.1035G>T p.M345I Substitution - Missense 13:41193223-41193223 - TCGA-24-1417-01 COSM119937 c.1733G>C p.W578S Substitution - Missense 13:41192525-41192525 - TCGA-AG-A002-01 COSM261488 c.1262G>A p.R421H Substitution - Missense 13:41192996-41192996 - 2293782 COSM4608497 c.1990G>T p.D664Y Substitution - Missense 13:41192268-41192268 - YURTHE COSM1706716 c.1309A>T p.I437F Substitution - Missense 13:41192949-41192949 - TCGA-B5-A11G-01 COSM947438 c.215_216insC p.G73fs*66 Insertion - Frameshift 13:41194042-41194043 - TCGA-UC-A7PF-01 COSM4830315 c.39C>T p.L13L Substitution - coding silent 13:41194219-41194219 - T578 COSM187912 c.1982C>A p.S661Y Substitution - Missense 13:41192276-41192276 - 2217540 COSM4421662 c.1401G>C p.V467V Substitution - coding silent 13:41192857-41192857 - TCGA-24-2293-01 COSM111470 c.283_287delTACTT p.Y95fs*42 Deletion - Frameshift 13:41193971-41193975 - TCGA-B5-A11E-01 COSM947436 c.477C>A p.A159A Substitution - coding silent 13:41193781-41193781 - PTC-14C COSM4147710 c.556C>A p.H186N Substitution - Missense 13:41193702-41193702 - TCGA-BQ-7044-01 COSM3987400 c.1446T>A p.V482V Substitution - coding silent 13:41192812-41192812 - 422_T COSM3955594 c.1422C>A p.F474L Substitution - Missense 13:41192836-41192836 - T3080 COSM4694130 c.378C>T p.V126V Substitution - coding silent 13:41193880-41193880 - TCGA-AX-A0J0-01 COSM947433 c.796C>T p.R266C Substitution - Missense 13:41193462-41193462 - TCGA-FS-A1ZZ-06 COSM3468900 c.1625G>A p.G542E Substitution - Missense 13:41192633-41192633 - HCC014T COSM5814528 c.1273C>A p.R425S Substitution - Missense 13:41192985-41192985 - SNU-C4 COSM4630017 c.792C>T p.C264C Substitution - coding silent 13:41193466-41193466 - TCGA-CK-4952-01 COSM1366898 c.1616C>G p.P539R Substitution - Missense 13:41192642-41192642 - TCGA-AN-A046-01 COSM3813813 c.549C>T p.F183F Substitution - coding silent 13:41193709-41193709 - TCGA-36-2547-01 COSM1322890 c.1482G>A p.M494I Substitution - Missense 13:41192776-41192776 - Pat_63_B COSM1211387 c.1870G>A p.E624K Substitution - Missense 13:41192388-41192388 - SNUH_G16_S1 COSM1366901 c.1056T>C p.P352P Substitution - coding silent 13:41193202-41193202 - TCGA-EE-A3JI-06 COSM3468903 c.629G>A p.R210Q Substitution - Missense 13:41193629-41193629 - TCGA-BS-A0UV-01 COSM947434 c.550G>A p.D184N Substitution - Missense 13:41193708-41193708 - HCC31T COSM3704633 c.1210G>T p.D404Y Substitution - Missense 13:41193048-41193048 - OSCC-GB_00410111 COSM3711083 c.1321G>A p.G441R Substitution - Missense 13:41192937-41192937 - TCGA-D3-A5GO-06 COSM3885337 c.248C>T p.S83F Substitution - Missense 13:41194010-41194010 - LS513 COSM1940777 c.859G>A p.V287M Substitution - Missense 13:41193399-41193399 - TCGA-D1-A103-01 COSM167824 c.1636C>T p.R546W Substitution - Missense 13:41192622-41192622 - TCGA-34-2600-01 COSM696566 c.1154C>A p.S385* Substitution - Nonsense 13:41193104-41193104 - TCGA-IR-A3LA-01 COSM1940769 c.1405C>T p.P469S Substitution - Missense 13:41192853-41192853 - TCGA-G2-A3VY-01 COSM3793288 c.1546C>T p.Q516* Substitution - Nonsense 13:41192712-41192712 - HCC81T COSM1607082 c.585C>A p.Y195* Substitution - Nonsense 13:41193673-41193673 - LP6007535-DNA_A01 COSM5951132 c.307G>C p.G103R Substitution - Missense 13:41193951-41193951 - LS174T COSM1940784 c.354C>T p.D118D Substitution - coding silent 13:41193904-41193904 - 234 COSM3730611 c.2023C>T p.R675* Substitution - Nonsense 13:41192235-41192235 - J90_T COSM3955595 c.1311C>G p.I437M Substitution - Missense 13:41192947-41192947 - HDC87 COSM4636906 c.504T>A p.L168L Substitution - coding silent 13:41193754-41193754 - ESO-143 COSM1255212 c.1744C>T p.R582* Substitution - Nonsense 13:41192514-41192514 - 20 COSM5280451 c.557A>G p.H186R Substitution - Missense 13:41193701-41193701 - TCGA-FD-A3SJ-01 COSM3793287 c.1879C>T p.Q627* Substitution - Nonsense 13:41192379-41192379 - Pat_31_A COSM5842531 c.101delT p.F34fs*7 Deletion - Frameshift 13:41194157-41194157 - CHC1061T COSM250994 c.1963G>T p.E655* Substitution - Nonsense 13:41192295-41192295 - 41T COSM3711083 c.1321G>A p.G441R Substitution - Missense 13:41192937-41192937 - CHC1061T COSM250994 c.1963G>T p.E655* Substitution - Nonsense 13:41192295-41192295 - TCGA-CG-5721-01 COSM4047615 c.1569T>C p.D523D Substitution - coding silent 13:41192689-41192689 - TCGA-D8-A1XK-01 COSM3813812 c.869A>G p.Y290C Substitution - Missense 13:41193389-41193389 - pfg053T COSM4753605 c.414G>T p.E138D Substitution - Missense 13:41193844-41193844 - YUFLA COSM1706715 c.1945T>C p.F649L Substitution - Missense 13:41192313-41192313 - CHC322T COSM3667283 c.1160T>C p.V387A Substitution - Missense 13:41193098-41193098 - T2940 COSM4694129 c.619G>A p.G207S Substitution - Missense 13:41193639-41193639 - GHE0645 COSM5714589 c.1570G>A p.E524K Substitution - Missense 13:41192688-41192688 - PASLZM COSM5006374 c.1089G>A p.S363S Substitution - coding silent 13:41193169-41193169 - TCGA-DK-A2I4-01 COSM3793289 c.1071C>G p.L357L Substitution - coding silent 13:41193187-41193187 - TCGA-EE-A29D-06 COSM3468905 c.165C>T p.S55S Substitution - coding silent 13:41194093-41194093 - 1N36-VS-1T36 COSM4974904 c.1185C>A p.I395I Substitution - coding silent 13:41193073-41193073 - TCGA-G4-6588-01 COSM1366904 c.337A>G p.T113A Substitution - Missense 13:41193921-41193921 - S00936 COSM312141 c.1326A>G p.G442G Substitution - coding silent 13:41192932-41192932 - TCGA-EE-A2MJ-06 COSM3468901 c.1334C>T p.P445L Substitution - Missense 13:41192924-41192924 - TCGA-D1-A17Q-01 COSM947432 c.900G>T p.Q300H Substitution - Missense 13:41193358-41193358 - PCSI_0090_Pa_P COSM3376550 c.1517A>C p.N506T Substitution - Missense 13:41192741-41192741 - LS180 COSM1940784 c.354C>T p.D118D Substitution - coding silent 13:41193904-41193904 - TCGA-D1-A176-01 COSM947429 c.1781A>C p.Q594P Substitution - Missense 13:41192477-41192477 - TCGA-F5-6465-01 COSM1562249 c.1274G>A p.R425H Substitution - Missense 13:41192984-41192984 - TCGA-BS-A0UV-01 COSM947439 c.171C>T p.Y57Y Substitution - coding silent 13:41194087-41194087 - TCGA-AZ-4315-01 COSM1366902 c.500G>A p.R167H Substitution - Missense 13:41193758-41193758 - TCGA-CG-5730-01 COSM4047616 c.234G>A p.T78T Substitution - coding silent 13:41194024-41194024 - TCGA-BG-A0M4-01 COSM947435 c.498A>G p.R166R Substitution - coding silent 13:41193760-41193760 - 587224 COSM1211386 c.523G>A p.A175T Substitution - Missense 13:41193735-41193735 - CHC322T COSM3667283 c.1160T>C p.V387A Substitution - Missense 13:41193098-41193098 - CHC1137T COSM4803195 c.661C>T p.Q221* Substitution - Nonsense 13:41193597-41193597 - TCGA-25-1316-01 COSM75067 c.611G>T p.S204I Substitution - Missense 13:41193647-41193647 - TCGA-A3-3374-01 COSM1493198 c.1172C>T p.P391L Substitution - Missense 13:41193086-41193086 - TARGET-30-PAPZYZ COSM1285647 c.1333C>T p.P445S Substitution - Missense 13:41192925-41192925 - HCC31 COSM3704633 c.1210G>T p.D404Y Substitution - Missense 13:41193048-41193048 - SC_9097 COSM5561282 c.260A>C p.N87T Substitution - Missense 13:41193998-41193998 - HCA7 COSM4630017 c.792C>T p.C264C Substitution - coding silent 13:41193466-41193466 - ESCC_143 COSM167824 c.1636C>T p.R546W Substitution - Missense 13:41192622-41192622 - TCGA-AP-A0LM-01 COSM167824 c.1636C>T p.R546W Substitution - Missense 13:41192622-41192622 - sysucc-311T COSM5478532 c.591T>G p.A197A Substitution - coding silent 13:41193667-41193667 - TCGA-D1-A103-01 COSM947440 c.147G>A p.L49L Substitution - coding silent 13:41194111-41194111 - TCGA-B0-5110-01 COSM469431 c.1132C>A p.H378N Substitution - Missense 13:41193126-41193126 - TCGA-AP-A0LM-01 COSM947430 c.1060G>T p.D354Y Substitution - Missense 13:41193198-41193198 - TCGA-EE-A2GU-06 COSM3468899 c.1858C>T p.P620S Substitution - Missense 13:41192400-41192400 - HCC81 COSM1607082 c.585C>A p.Y195* Substitution - Nonsense 13:41193673-41193673 - LUAD-E00443 COSM363704 c.1174G>A p.D392N Substitution - Missense 13:41193084-41193084 - ESO-1670 COSM1255213 c.427C>T p.R143C Substitution - Missense 13:41193831-41193831 - TCGA-BR-4361-01 COSM1940784 c.354C>T p.D118D Substitution - coding silent 13:41193904-41193904 - TCGA-KK-A59V-01 COSM947433 c.796C>T p.R266C Substitution - Missense 13:41193462-41193462 - MBRep_T53 COSM215564 c.1115C>G p.P372R Substitution - Missense 13:41193143-41193143 - TCGA-A3-3346-01 COSM1493199 c.1330G>A p.D444N Substitution - Missense 13:41192928-41192928 - CHC2099T COSM4793222 c.846G>T p.L282L Substitution - coding silent 13:41193412-41193412 - TCGA-DW-7841-01 COSM3987401 c.441C>T p.A147A Substitution - coding silent 13:41193817-41193817 - PT08_1 COSM5893730 c.1684G>A p.V562I Substitution - Missense 13:41192574-41192574 - TCGA-EE-A2MS-06 COSM3468904 c.486C>T p.S162S Substitution - coding silent 13:41193772-41193772 - Pat_59_A COSM5842530 c.1567G>T p.D523Y Substitution - Missense 13:41192691-41192691 - pfg043T COSM4753603 c.1981T>A p.S661T Substitution - Missense 13:41192277-41192277 - LP6005690-DNA_C02 COSM4412222 c.1132C>G p.H378D Substitution - Missense 13:41193126-41193126 - TCGA-A3-3346-01 COSM1493197 c.417C>A p.A139A Substitution - coding silent 13:41193841-41193841 - S02352 COSM5695287 c.529C>T p.L177F Substitution - Missense 13:41193729-41193729 - TCGA-B5-A11N-01 COSM947437 c.469C>T p.R157W Substitution - Missense 13:41193789-41193789 - SNUH_G16_S1 COSM3999086 c.1053T>C p.H351H Substitution - coding silent 13:41193205-41193205 - TCGA-AX-A0J0-01 COSM947431 c.977C>A p.S326Y Substitution - Missense 13:41193281-41193281 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.63841 13q14.11

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AAGTA - Frameshift p.Y95Qfs*42 c.283_287delTACTT 13 41768107 OV A C Missense p.F629V c.1885T>G 13 41766509 CM A G Missense p.L604P c.1811T>C 13 41766583 LUAD C A Missense p.M345I c.1035G>T 13 41767359 BLCA C A Missense p.S204I c.611G>T 13 41767783 OV C G Missense p.C622S c.1865G>C 13 41766529 MM C G Missense p.E68Q c.202G>C 13 41768192 HNSC C G Missense p.W578S c.1733G>C 13 41766661 OV C T Missense p.A119T c.355G>A 13 41768039 STAD C T Missense p.E158K c.472G>A 13 41767922 LUAD C T Missense p.G542E c.1625G>A 13 41766769 CM C T Missense p.R210Q c.629G>A 13 41767765 CM C T Synonymous p.T78T c.234G>A 13 41768160 STAD G A Missense p.P445L c.1334C>T 13 41767060 CM G A Missense p.P445S c.1333C>T 13 41767061 NB G A Missense p.P620S c.1858C>T 13 41766536 CM G A Missense p.R143C c.427C>T 13 41767967 ESCA G A Missense p.R493C c.1477C>T 13 41766917 CM G A Missense p.S148F c.443C>T 13 41767951 CM G A Nonsense p.R582* c.1744C>T 13 41766650 ESCA G A Synonymous p.S148S c.444C>T 13 41767950 STAD G A Synonymous p.S162S c.486C>T 13 41767908 CM G C Missense p.D42E c.126C>G 13 41768268 CM G C Missense p.P372R c.1115C>G 13 41767279 MB G C Missense p.S476C c.1427C>G 13 41766967 LUSC G C Synonymous p.L357L c.1071C>G 13 41767323 BLCA - G Frameshift p.G73Wfs*66 c.215dupC 13 41768179 UCEC G T Missense p.H378N c.1132C>A 13 41767262 RCCC G T Nonsense p.S385* c.1154C>A 13 41767240 LUSC T C Missense p.K263R c.788A>G 13 41767606 PRAD T C Synonymous p.G442G c.1326A>G 13 41767068 SCLC T C Synonymous p.R166R c.498A>G 13 41767896 UCEC T - Frameshift p.D420Ifs*32 c.1257delA 13 41767137 PRAD TGTGCCAGCAGGGCTGCAGAATGGGCCGTGTCCTTTAA - Frameshift p.L40Afs*12 c.118_155delTTAAAGGACACGGCCCATTCTGCAGCCCTGCTGGCACA 13 41768239 OV