Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 3 51968549 51968549 + Missense_Mutation SNP A A G TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr3:51968549A>G c.1199T>C c.(1198-1200)gTg>gCg p.V400A BLCA 3 51967533 51967533 + Missense_Mutation SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 g.chr3:51967533C>T c.1417G>A c.(1417-1419)Gct>Act p.A473T BLCA 3 51967777 51967777 + Silent SNP G G A TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr3:51967777G>A c.1281C>T c.(1279-1281)ctC>ctT p.L427L BLCA 3 51968530 51968530 + Silent SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 g.chr3:51968530C>T c.1218G>A c.(1216-1218)ggG>ggA p.G406G BLCA 3 51971684 51971684 + Splice_Site SNP C C T TCGA-DK-AA6R-01A-11D-A42E-08 TCGA-DK-AA6R-10A-01D-A42H-08 g.chr3:51971684C>T c.e4+1 BRCA 3 51967602 51967602 + Missense_Mutation SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr3:51967602A>C c.1348T>G c.(1348-1350)Tgg>Ggg p.W450G BRCA 3 51969380 51969380 + Nonsense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:51969380G>A c.949C>T c.(949-951)Cag>Tag p.Q317* BRCA 3 51969486 51969487 + Frame_Shift_Ins INS - - GG TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 g.chr3:51969486_51969487insGG c.842_843insCC c.(841-843)ggafs p.G281fs CESC 3 51967558 51967558 + Silent SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr3:51967558G>T c.1392C>A c.(1390-1392)ctC>ctA p.L464L CESC 3 51969651 51969651 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 g.chr3:51969651C>T c.793G>A c.(793-795)Gtg>Atg p.V265M CESC 3 51970552 51970552 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 g.chr3:51970552C>T c.537G>A c.(535-537)cgG>cgA p.R179R COAD 3 51968680 51968680 + Missense_Mutation SNP C C T TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr3:51968680C>T c.1147G>A c.(1147-1149)Gca>Aca p.A383T COAD 3 51968776 51968776 + Missense_Mutation SNP C C A TCGA-DM-A0XF-01A-11D-A152-10 TCGA-DM-A0XF-10A-01D-A152-10 g.chr3:51968776C>A c.1051G>T c.(1051-1053)Ggt>Tgt p.G351C COAD 3 51969469 51969469 + Missense_Mutation SNP G G T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr3:51969469G>T c.860C>A c.(859-861)gCt>gAt p.A287D COAD 3 51970286 51970286 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr3:51970286C>T c.722G>A c.(721-723)cGg>cAg p.R241Q COAD 3 51970353 51970353 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr3:51970353G>A c.655C>T c.(655-657)Cgc>Tgc p.R219C COAD 3 51970462 51970464 + In_Frame_Del DEL GGA GGA - TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr3:51970462_51970464delGGA c.625_627delTCC c.(625-627)tccdel p.S209del COAD 3 51971272 51971272 + Missense_Mutation SNP A A C TCGA-AA-3979-01A-01W-0995-10 TCGA-AA-3979-10A-01W-0999-10 g.chr3:51971272A>C c.453T>G c.(451-453)tgT>tgG p.C151W COAD 3 51972181 51972183 + In_Frame_Del DEL CTC CTC - TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr3:51972181_51972183delCTC c.208_210delGAG c.(208-210)gagdel p.E70del COAD 3 51975451 51975453 + In_Frame_Del DEL CTC CTC - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:51975451_51975453delCTC c.142_144delGAG c.(142-144)gagdel p.E48del COAD 3 51975464 51975464 + Missense_Mutation SNP T T C TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr3:51975464T>C c.131A>G c.(130-132)aAg>aGg p.K44R COAD 3 51975464 51975464 + Missense_Mutation SNP T T C TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr3:51975464T>C c.131A>G c.(130-132)aAg>aGg p.K44R COAD 3 51975464 51975464 + Missense_Mutation SNP T T C TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr3:51975464T>C c.131A>G c.(130-132)aAg>aGg p.K44R COADREAD 3 51968680 51968680 + Missense_Mutation SNP C C T TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr3:51968680C>T c.1147G>A c.(1147-1149)Gca>Aca p.A383T COADREAD 3 51968776 51968776 + Missense_Mutation SNP C C A TCGA-DM-A0XF-01A-11D-A152-10 TCGA-DM-A0XF-10A-01D-A152-10 g.chr3:51968776C>A c.1051G>T c.(1051-1053)Ggt>Tgt p.G351C COADREAD 3 51969469 51969469 + Missense_Mutation SNP G G T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr3:51969469G>T c.860C>A c.(859-861)gCt>gAt p.A287D COADREAD 3 51970286 51970286 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr3:51970286C>T c.722G>A c.(721-723)cGg>cAg p.R241Q COADREAD 3 51970353 51970353 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr3:51970353G>A c.655C>T c.(655-657)Cgc>Tgc p.R219C COADREAD 3 51970462 51970464 + In_Frame_Del DEL GGA GGA - TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr3:51970462_51970464delGGA c.625_627delTCC c.(625-627)tccdel p.S209del COADREAD 3 51971272 51971272 + Missense_Mutation SNP A A C TCGA-AA-3979-01A-01W-0995-10 TCGA-AA-3979-10A-01W-0999-10 g.chr3:51971272A>C c.453T>G c.(451-453)tgT>tgG p.C151W COADREAD 3 51972119 51972119 + Missense_Mutation SNP C C T TCGA-AG-4007-01A-01W-1073-09 TCGA-AG-4007-10A-01W-1073-09 g.chr3:51972119C>T c.272G>A c.(271-273)cGt>cAt p.R91H COADREAD 3 51972152 51972152 + Missense_Mutation SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:51972152A>G c.239T>C c.(238-240)cTg>cCg p.L80P COADREAD 3 51972181 51972183 + In_Frame_Del DEL CTC CTC - TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr3:51972181_51972183delCTC c.208_210delGAG c.(208-210)gagdel p.E70del COADREAD 3 51975451 51975453 + In_Frame_Del DEL CTC CTC - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:51975451_51975453delCTC c.142_144delGAG c.(142-144)gagdel p.E48del COADREAD 3 51975464 51975464 + Missense_Mutation SNP T T C TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr3:51975464T>C c.131A>G c.(130-132)aAg>aGg p.K44R COADREAD 3 51975464 51975464 + Missense_Mutation SNP T T C TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr3:51975464T>C c.131A>G c.(130-132)aAg>aGg p.K44R COADREAD 3 51975464 51975464 + Missense_Mutation SNP T T C TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr3:51975464T>C c.131A>G c.(130-132)aAg>aGg p.K44R DLBC 3 51969389 51969389 + Missense_Mutation SNP C C T TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr3:51969389C>T c.940G>A c.(940-942)Gag>Aag p.E314K ESCA 3 51968680 51968680 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 g.chr3:51968680C>T c.1147G>A c.(1147-1149)Gca>Aca p.A383T ESCA 3 51969420 51969420 + Silent SNP C C A TCGA-LN-A9FP-01A-31D-A387-09 TCGA-LN-A9FP-10A-01D-A38A-09 g.chr3:51969420C>A c.909G>T c.(907-909)cgG>cgT p.R303R GBM 3 51969702 51969702 + Missense_Mutation SNP C C T TCGA-12-0618-01A-01D-1492-08 TCGA-12-0618-10A-01D-1492-08 g.chr3:51969702C>T c.742G>A c.(742-744)Gca>Aca p.A248T GBMLGG 3 51967796 51967796 + Splice_Site SNP A A C TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 g.chr3:51967796A>C c.1262T>G c.(1261-1263)gTg>gGg p.V421G GBMLGG 3 51969702 51969702 + Missense_Mutation SNP C C T TCGA-12-0618-01A-01D-1492-08 TCGA-12-0618-10A-01D-1492-08 g.chr3:51969702C>T c.742G>A c.(742-744)Gca>Aca p.A248T KIPAN 3 51971260 51971260 + Silent SNP G G T TCGA-BP-5176-01A-01D-1429-08 TCGA-BP-5176-11A-01D-1429-08 g.chr3:51971260G>T c.465C>A c.(463-465)acC>acA p.T155T KIRC 3 51971260 51971260 + Silent SNP G G T TCGA-BP-5176-01A-01D-1429-08 TCGA-BP-5176-11A-01D-1429-08 g.chr3:51971260G>T c.465C>A c.(463-465)acC>acA p.T155T LGG 3 51967796 51967796 + Splice_Site SNP A A C TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 g.chr3:51967796A>C c.1262T>G c.(1261-1263)gTg>gGg p.V421G LIHC 3 51969471 51969471 + Silent SNP C C T TCGA-DD-A73A-01A-12D-A32G-10 TCGA-DD-A73A-10A-01D-A32G-10 g.chr3:51969471C>T c.858G>A c.(856-858)gtG>gtA p.V286V LIHC 3 51970364 51970364 + Splice_Site SNP G G C TCGA-BC-A8YO-01A-11D-A36X-10 TCGA-BC-A8YO-10A-01D-A370-10 g.chr3:51970364G>C c.644C>G c.(643-645)gCc>gGc p.A215G LUAD 3 51968721 51968721 + Missense_Mutation SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 g.chr3:51968721C>G c.1106G>C c.(1105-1107)gGa>gCa p.G369A LUAD 3 51969221 51969221 + Silent SNP C C T TCGA-55-7995-01A-11D-2184-08 TCGA-55-7995-10A-01D-2184-08 g.chr3:51969221C>T c.1026G>A c.(1024-1026)gcG>gcA p.A342A LUAD 3 51969674 51969674 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr3:51969674T>C c.770A>G c.(769-771)tAc>tGc p.Y257C LUAD 3 51971226 51971226 + Missense_Mutation SNP C C T TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr3:51971226C>T c.499G>A c.(499-501)Gac>Aac p.D167N LUAD 3 51971706 51971706 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr3:51971706C>A c.327G>T c.(325-327)gcG>gcT p.A109A LUAD 3 51972152 51972152 + Missense_Mutation SNP A A T TCGA-80-5611-01A-01D-1625-08 TCGA-80-5611-10A-01D-1625-08 g.chr3:51972152A>T c.239T>A c.(238-240)cTg>cAg p.L80Q LUSC 3 51967584 51967584 + Silent SNP G G T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 g.chr3:51967584G>T c.1366C>A c.(1366-1368)Cgg>Agg p.R456R LUSC 3 51970535 51970535 + Missense_Mutation SNP G G A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 g.chr3:51970535G>A c.554C>T c.(553-555)cCt>cTt p.P185L OV 3 51975463 51975463 + Missense_Mutation SNP C C A TCGA-04-1331-01A-01W-0486-08 TCGA-04-1331-10A-01W-0486-08 g.chr3:51975463C>A c.132G>T c.(130-132)aaG>aaT p.K44N PRAD 3 51972181 51972183 + In_Frame_Del DEL CTC CTC - TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 g.chr3:51972181_51972183delCTC c.208_210delGAG c.(208-210)gagdel p.E70del READ 3 51972119 51972119 + Missense_Mutation SNP C C T TCGA-AG-4007-01A-01W-1073-09 TCGA-AG-4007-10A-01W-1073-09 g.chr3:51972119C>T c.272G>A c.(271-273)cGt>cAt p.R91H READ 3 51972152 51972152 + Missense_Mutation SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:51972152A>G c.239T>C c.(238-240)cTg>cCg p.L80P SKCM 3 51967557 51967557 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 g.chr3:51967557G>A c.1393C>T c.(1393-1395)Cgc>Tgc p.R465C SKCM 3 51967584 51967584 + Missense_Mutation SNP G G A TCGA-EE-A2GP-06A-11D-A197-08 TCGA-EE-A2GP-10A-01D-A199-08 g.chr3:51967584G>A c.1366C>T c.(1366-1368)Cgg>Tgg p.R456W SKCM 3 51967753 51967753 + Silent SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr3:51967753G>A c.1305C>T c.(1303-1305)ttC>ttT p.F435F SKCM 3 51968490 51968490 + Silent SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr3:51968490G>A c.1258C>T c.(1258-1260)Ctg>Ttg p.L420L SKCM 3 51968672 51968672 + Silent SNP G G A TCGA-FS-A4FD-06A-11D-A25O-08 TCGA-FS-A4FD-10B-01D-A25O-08 g.chr3:51968672G>A c.1155C>T c.(1153-1155)ctC>ctT p.L385L SKCM 3 51968772 51968772 + Frame_Shift_Del DEL A A - TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr3:51968772delA c.1055delT c.(1054-1056)ctcfs p.L352fs SKCM 3 51969227 51969227 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr3:51969227G>A c.1020C>T c.(1018-1020)tcC>tcT p.S340S SKCM 3 51969369 51969369 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:51969369G>A c.960C>T c.(958-960)ttC>ttT p.F320F SKCM 3 51969657 51969657 + Missense_Mutation SNP G G A TCGA-EE-A2MU-06A-21D-A196-08 TCGA-EE-A2MU-10A-01D-A198-08 g.chr3:51969657G>A c.787C>T c.(787-789)Cgc>Tgc p.R263C SKCM 3 51971239 51971239 + Silent SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 g.chr3:51971239G>A c.486C>T c.(484-486)ttC>ttT p.F162F SKCM 3 51971266 51971266 + Silent SNP G G A TCGA-EE-A2A0-06A-11D-A196-08 TCGA-EE-A2A0-10A-01D-A198-08 g.chr3:51971266G>A c.459C>T c.(457-459)gtC>gtT p.V153V SKCM 3 51971282 51971282 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 g.chr3:51971282G>A c.443C>T c.(442-444)tCt>tTt p.S148F SKCM 3 51971732 51971732 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr3:51971732G>A c.301C>T c.(301-303)Cgt>Tgt p.R101C

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 3 51979531 51979531 single base substitution G A upstream_gene_variant BLCA-CN 3 51979911 51979911 single base substitution T G upstream_gene_variant BLCA-CN 3 51980193 51980193 single base substitution C T upstream_gene_variant BLCA-US 3 51967533 51967533 single base substitution C T missense_variant A473T 1417G>A BLCA-US 3 51979599 51979599 single base substitution G T upstream_gene_variant BRCA-EU 3 51965292 51965292 single base substitution C T downstream_gene_variant BRCA-EU 3 51966684 51966684 single base substitution G A downstream_gene_variant BRCA-EU 3 51967906 51967906 single base substitution C G intron_variant BRCA-EU 3 51969412 51969419 deletion of <=200bp GTCCCATC - frameshift_variant DGT304 BRCA-EU 3 51971403 51971403 single base substitution G A intron_variant BRCA-EU 3 51974205 51974205 single base substitution G A intron_variant BRCA-EU 3 51974456 51974456 single base substitution C T intron_variant BRCA-EU 3 51974545 51974545 deletion of <=200bp T - intron_variant BRCA-EU 3 51976616 51976616 single base substitution T A upstream_gene_variant BRCA-EU 3 51977243 51977243 single base substitution G T upstream_gene_variant BRCA-EU 3 51977615 51977615 single base substitution G A upstream_gene_variant BRCA-EU 3 51977745 51977745 single base substitution C T upstream_gene_variant BRCA-EU 3 51978426 51978426 single base substitution G C upstream_gene_variant BRCA-EU 3 51978532 51978532 single base substitution C A upstream_gene_variant BRCA-FR 3 51965907 51965907 single base substitution A T downstream_gene_variant BRCA-FR 3 51974205 51974205 single base substitution G A intron_variant BRCA-FR 3 51977745 51977745 single base substitution C T upstream_gene_variant BRCA-FR 3 51978426 51978426 single base substitution G C upstream_gene_variant BRCA-KR 3 51976657 51976657 single base substitution C T upstream_gene_variant BRCA-UK 3 51966684 51966684 single base substitution G A downstream_gene_variant BRCA-US 3 51967602 51967602 single base substitution A C missense_variant W450G 1348T>G BRCA-US 3 51969380 51969380 single base substitution G A stop_gained Q317* 949C>T BRCA-US 3 51969486 51969486 insertion of <=200bp - GG frameshift_variant G281G? BRCA-US 3 51978147 51978147 single base substitution G C upstream_gene_variant BRCA-US 3 51978149 51978149 single base substitution G C upstream_gene_variant BRCA-US 3 51978890 51978890 single base substitution G A upstream_gene_variant BRCA-US 3 51979013 51979013 single base substitution G A upstream_gene_variant BTCA-JP 3 51978191 51978191 deletion of <=200bp C - upstream_gene_variant BTCA-JP 3 51978219 51978219 single base substitution C T upstream_gene_variant BTCA-JP 3 51978640 51978640 single base substitution G A upstream_gene_variant BTCA-JP 3 51979120 51979120 single base substitution C T upstream_gene_variant CESC-US 3 51967558 51967558 single base substitution G T synonymous_variant L464L 1392C>A CESC-US 3 51969651 51969651 single base substitution C T missense_variant V265M 793G>A CESC-US 3 51970552 51970552 single base substitution C T synonymous_variant R179R 537G>A COAD-US 3 51968776 51968776 single base substitution C A missense_variant G351C 1051G>T COAD-US 3 51970462 51970464 deletion of <=200bp GGA - inframe_deletion S209 COAD-US 3 51975451 51975453 deletion of <=200bp CTC - inframe_deletion E48 COAD-US 3 51978827 51978827 single base substitution C T upstream_gene_variant COAD-US 3 51979191 51979191 single base substitution C T upstream_gene_variant COAD-US 3 51979569 51979569 single base substitution C T upstream_gene_variant COAD-US 3 51980305 51980305 single base substitution C T upstream_gene_variant COCA-CN 3 51970516 51970516 single base substitution G T synonymous_variant A191A 573C>A COCA-CN 3 51971555 51971555 single base substitution A G splice_region_variant COCA-CN 3 51972793 51972793 single base substitution G A intron_variant COCA-CN 3 51978042 51978042 single base substitution G A upstream_gene_variant COCA-CN 3 51978468 51978468 single base substitution T A upstream_gene_variant COCA-CN 3 51979531 51979531 single base substitution G A upstream_gene_variant COCA-CN 3 51980259 51980259 single base substitution C T upstream_gene_variant ESAD-UK 3 51962503 51962503 single base substitution T G downstream_gene_variant ESAD-UK 3 51963254 51963254 single base substitution G T downstream_gene_variant ESAD-UK 3 51964946 51964946 single base substitution A G downstream_gene_variant ESAD-UK 3 51965979 51965979 single base substitution G A downstream_gene_variant ESAD-UK 3 51969052 51969052 single base substitution G A intron_variant ESAD-UK 3 51969315 51969315 single base substitution C T intron_variant ESAD-UK 3 51970554 51970554 single base substitution G A missense_variant R179W 535C>T ESCA-CN 3 51975570 51975570 deletion of <=200bp C - intron_variant ESCA-CN 3 51975577 51975577 single base substitution C T intron_variant GBM-US 3 51969702 51969702 single base substitution C T missense_variant A248T 742G>A KIRC-US 3 51971260 51971260 single base substitution G T synonymous_variant T155T 465C>A KIRC-US 3 51972151 51972151 single base substitution C G synonymous_variant L80L 240G>C KIRP-US 3 51968675 51968675 single base substitution G A synonymous_variant A384A 1152C>T KIRP-US 3 51971298 51971298 single base substitution G A missense_variant R143W 427C>T LAML-KR 3 51975577 51975577 single base substitution C T intron_variant LIAD-FR 3 51977479 51977479 single base substitution C A upstream_gene_variant LICA-CN 3 51978918 51978918 single base substitution T A upstream_gene_variant LICA-FR 3 51967736 51967736 single base substitution C T missense_variant G441E 1322G>A LICA-FR 3 51968542 51968542 single base substitution A C synonymous_variant L402L 1206T>G LICA-FR 3 51968546 51968546 single base substitution C A missense_variant R401L 1202G>T LICA-FR 3 51978536 51978536 single base substitution G A upstream_gene_variant LICA-FR 3 51978855 51978855 single base substitution C G upstream_gene_variant LICA-FR 3 51979909 51979909 single base substitution G A upstream_gene_variant LIHC-US 3 51969471 51969471 single base substitution C T synonymous_variant V286V 858G>A LINC-JP 3 51968572 51968572 single base substitution G A splice_region_variant LINC-JP 3 51969460 51969460 single base substitution T C missense_variant D290G 869A>G LINC-JP 3 51975158 51975158 single base substitution T C intron_variant LINC-JP 3 51976804 51976804 single base substitution G C upstream_gene_variant LIRI-JP 3 51964643 51964643 single base substitution G C downstream_gene_variant LIRI-JP 3 51965149 51965149 single base substitution A G downstream_gene_variant LIRI-JP 3 51965888 51965888 single base substitution A T downstream_gene_variant LIRI-JP 3 51966265 51966265 single base substitution G T downstream_gene_variant LIRI-JP 3 51968436 51968436 single base substitution G A intron_variant LIRI-JP 3 51968614 51968614 single base substitution C T intron_variant LUSC-KR 3 51964836 51964836 single base substitution G A downstream_gene_variant LUSC-KR 3 51965419 51965419 single base substitution G C downstream_gene_variant LUSC-KR 3 51967439 51967439 single base substitution A G downstream_gene_variant LUSC-KR 3 51967583 51967583 single base substitution C G missense_variant R456P 1367G>C LUSC-KR 3 51967833 51967833 single base substitution G A intron_variant LUSC-KR 3 51968429 51968429 single base substitution C T intron_variant LUSC-KR 3 51971382 51971382 single base substitution T C intron_variant LUSC-KR 3 51976676 51976676 single base substitution C A upstream_gene_variant LUSC-KR 3 51978327 51978327 single base substitution A G upstream_gene_variant LUSC-KR 3 51978640 51978640 single base substitution G A upstream_gene_variant LUSC-KR 3 51980574 51980574 single base substitution A T upstream_gene_variant LUSC-US 3 51967584 51967584 single base substitution G T synonymous_variant R456R 1366C>A LUSC-US 3 51970535 51970535 single base substitution G A missense_variant P185L 554C>T LUSC-US 3 51978871 51978871 single base substitution C T upstream_gene_variant LUSC-US 3 51980220 51980220 single base substitution G T upstream_gene_variant MELA-AU 3 51962804 51962804 single base substitution G A downstream_gene_variant MELA-AU 3 51962928 51962928 single base substitution C T downstream_gene_variant MELA-AU 3 51962966 51962966 single base substitution G A downstream_gene_variant MELA-AU 3 51963048 51963048 single base substitution G A downstream_gene_variant MELA-AU 3 51963072 51963072 single base substitution G A downstream_gene_variant MELA-AU 3 51963160 51963160 single base substitution C T downstream_gene_variant MELA-AU 3 51963323 51963323 single base substitution C T downstream_gene_variant MELA-AU 3 51963457 51963457 single base substitution G A downstream_gene_variant MELA-AU 3 51963739 51963739 single base substitution G A downstream_gene_variant MELA-AU 3 51963749 51963749 single base substitution G A downstream_gene_variant MELA-AU 3 51964101 51964101 single base substitution G A downstream_gene_variant MELA-AU 3 51964150 51964150 single base substitution G A downstream_gene_variant MELA-AU 3 51964286 51964286 single base substitution G A downstream_gene_variant MELA-AU 3 51964287 51964287 single base substitution G A downstream_gene_variant MELA-AU 3 51964340 51964340 single base substitution G A downstream_gene_variant MELA-AU 3 51964348 51964348 single base substitution G T downstream_gene_variant MELA-AU 3 51964569 51964569 single base substitution C A downstream_gene_variant MELA-AU 3 51965125 51965126 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 51965591 51965591 single base substitution A T downstream_gene_variant MELA-AU 3 51965912 51965912 single base substitution A G downstream_gene_variant MELA-AU 3 51965972 51965972 single base substitution G A downstream_gene_variant MELA-AU 3 51965979 51965979 single base substitution G A downstream_gene_variant MELA-AU 3 51967197 51967197 single base substitution A G downstream_gene_variant MELA-AU 3 51967768 51967768 single base substitution G A synonymous_variant S430S 1290C>T MELA-AU 3 51968165 51968165 single base substitution C T intron_variant MELA-AU 3 51968315 51968315 single base substitution G T intron_variant MELA-AU 3 51968688 51968688 single base substitution G A missense_variant S380L 1139C>T MELA-AU 3 51968803 51968803 single base substitution G A intron_variant MELA-AU 3 51969281 51969281 single base substitution G A splice_region_variant MELA-AU 3 51969482 51969482 single base substitution G A stop_gained Q283* 847C>T MELA-AU 3 51969657 51969657 single base substitution G A missense_variant R263C 787C>T MELA-AU 3 51970582 51970582 single base substitution G A intron_variant MELA-AU 3 51970588 51970588 single base substitution G A intron_variant MELA-AU 3 51970816 51970816 single base substitution G A intron_variant MELA-AU 3 51970851 51970851 single base substitution G A intron_variant MELA-AU 3 51970863 51970864 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 51971029 51971029 single base substitution A T intron_variant MELA-AU 3 51971117 51971117 single base substitution G A intron_variant MELA-AU 3 51971265 51971265 single base substitution C T missense_variant V154I 460G>A MELA-AU 3 51972041 51972041 single base substitution G A intron_variant MELA-AU 3 51972613 51972613 single base substitution G A intron_variant MELA-AU 3 51972688 51972688 single base substitution G A intron_variant MELA-AU 3 51974625 51974625 single base substitution C T intron_variant MELA-AU 3 51975608 51975608 single base substitution G A intron_variant MELA-AU 3 51976008 51976008 single base substitution C T upstream_gene_variant MELA-AU 3 51976030 51976030 single base substitution C T upstream_gene_variant MELA-AU 3 51976035 51976035 single base substitution G A upstream_gene_variant MELA-AU 3 51976049 51976049 single base substitution C T upstream_gene_variant MELA-AU 3 51976125 51976136 deletion of <=200bp AAGCCCGCATCT - upstream_gene_variant MELA-AU 3 51976229 51976229 single base substitution C T upstream_gene_variant MELA-AU 3 51976704 51976705 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 51976738 51976739 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 51977482 51977482 single base substitution G A upstream_gene_variant MELA-AU 3 51977567 51977567 single base substitution C T upstream_gene_variant MELA-AU 3 51977851 51977851 single base substitution C T upstream_gene_variant MELA-AU 3 51978024 51978024 single base substitution C T upstream_gene_variant MELA-AU 3 51978186 51978186 single base substitution C T upstream_gene_variant MELA-AU 3 51978634 51978634 single base substitution G A upstream_gene_variant MELA-AU 3 51978704 51978704 single base substitution G A upstream_gene_variant MELA-AU 3 51979000 51979000 single base substitution C T upstream_gene_variant MELA-AU 3 51979194 51979194 single base substitution C T upstream_gene_variant MELA-AU 3 51979204 51979204 single base substitution C T upstream_gene_variant MELA-AU 3 51979437 51979437 single base substitution C T upstream_gene_variant MELA-AU 3 51979503 51979503 single base substitution C T upstream_gene_variant MELA-AU 3 51979706 51979706 single base substitution C T upstream_gene_variant MELA-AU 3 51979764 51979764 single base substitution C T upstream_gene_variant MELA-AU 3 51979764 51979765 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 51979961 51979961 single base substitution G C upstream_gene_variant MELA-AU 3 51979979 51979979 single base substitution C T upstream_gene_variant MELA-AU 3 51980037 51980037 single base substitution C T upstream_gene_variant MELA-AU 3 51980142 51980142 single base substitution G A upstream_gene_variant MELA-AU 3 51980193 51980193 single base substitution C T upstream_gene_variant MELA-AU 3 51980439 51980439 single base substitution C T upstream_gene_variant MELA-AU 3 51980659 51980659 single base substitution C T upstream_gene_variant MELA-AU 3 51980832 51980832 single base substitution T G upstream_gene_variant MELA-AU 3 51980857 51980857 single base substitution C T upstream_gene_variant ORCA-IN 3 51978858 51978858 single base substitution C T upstream_gene_variant OV-AU 3 51964773 51964773 single base substitution A G downstream_gene_variant OV-AU 3 51976264 51976264 single base substitution T A upstream_gene_variant PACA-AU 3 51968007 51968007 single base substitution G A intron_variant PACA-CA 3 51963894 51963894 single base substitution G A downstream_gene_variant PACA-CA 3 51964946 51964946 single base substitution A G downstream_gene_variant PACA-CA 3 51968746 51968746 single base substitution G T missense_variant Q361K 1081C>A PACA-CA 3 51973189 51973189 single base substitution G A intron_variant PACA-CA 3 51973402 51973402 insertion of <=200bp - TC intron_variant PAEN-AU 3 51969586 51969586 single base substitution A C intron_variant PAEN-AU 3 51971297 51971297 single base substitution C T missense_variant R143Q 428G>A PAEN-IT 3 51967159 51967159 single base substitution G A downstream_gene_variant PBCA-DE 3 51963352 51963352 single base substitution G T downstream_gene_variant PRAD-CA 3 51966101 51966101 single base substitution G A downstream_gene_variant PRAD-CA 3 51979363 51979363 single base substitution C T upstream_gene_variant PRAD-CA 3 51980886 51980886 single base substitution C T upstream_gene_variant PRAD-UK 3 51969821 51969821 single base substitution C T intron_variant PRAD-UK 3 51972008 51972008 single base substitution G A intron_variant PRAD-UK 3 51973834 51973834 single base substitution C T intron_variant PRAD-UK 3 51975451 51975451 single base substitution C A missense_variant E48D 144G>T PRAD-UK 3 51978189 51978189 single base substitution G A upstream_gene_variant RECA-EU 3 51971346 51971346 single base substitution G T intron_variant SKCA-BR 3 51967792 51967792 single base substitution A C synonymous_variant G422G 1266T>G SKCA-BR 3 51969392 51969392 single base substitution G A missense_variant P313S 937C>T SKCA-BR 3 51969869 51969869 single base substitution G A intron_variant SKCA-BR 3 51971621 51971621 single base substitution G A intron_variant SKCA-BR 3 51973400 51973400 single base substitution G A intron_variant SKCA-BR 3 51975964 51975964 single base substitution A C upstream_gene_variant SKCA-BR 3 51975997 51975997 single base substitution G A upstream_gene_variant SKCA-BR 3 51980037 51980037 single base substitution C T upstream_gene_variant SKCA-BR 3 51980522 51980522 single base substitution T G upstream_gene_variant SKCA-BR 3 51980847 51980847 single base substitution T G upstream_gene_variant SKCA-BR 3 51980923 51980923 single base substitution G A upstream_gene_variant SKCM-US 3 51967526 51967526 single base substitution G A missense_variant S475F 1424C>T SKCM-US 3 51967557 51967557 single base substitution G A missense_variant R465C 1393C>T SKCM-US 3 51967584 51967584 single base substitution G A missense_variant R456W 1366C>T SKCM-US 3 51967753 51967753 single base substitution G A synonymous_variant F435F 1305C>T SKCM-US 3 51968490 51968490 single base substitution G A splice_region_variant SKCM-US 3 51968672 51968672 single base substitution G A synonymous_variant L385L 1155C>T SKCM-US 3 51968772 51968772 deletion of <=200bp A - frameshift_variant L352 SKCM-US 3 51969227 51969227 single base substitution G A synonymous_variant S340S 1020C>T SKCM-US 3 51969369 51969369 single base substitution G A synonymous_variant F320F 960C>T SKCM-US 3 51969657 51969657 single base substitution G A missense_variant R263C 787C>T SKCM-US 3 51971239 51971239 single base substitution G A synonymous_variant F162F 486C>T SKCM-US 3 51971266 51971266 single base substitution G A synonymous_variant V153V 459C>T SKCM-US 3 51971282 51971282 single base substitution G A missense_variant S148F 443C>T SKCM-US 3 51971732 51971732 single base substitution G A missense_variant R101C 301C>T SKCM-US 3 51979163 51979163 single base substitution C T upstream_gene_variant SKCM-US 3 51979178 51979178 single base substitution C T upstream_gene_variant SKCM-US 3 51979198 51979198 single base substitution C T upstream_gene_variant SKCM-US 3 51980193 51980193 single base substitution C T upstream_gene_variant STAD-US 3 51968519 51968519 single base substitution C T missense_variant R410Q 1229G>A STAD-US 3 51969429 51969429 single base substitution A G synonymous_variant A300A 900T>C STAD-US 3 51969657 51969657 single base substitution G A missense_variant R263C 787C>T STAD-US 3 51970287 51970287 single base substitution G A missense_variant R241W 721C>T STAD-US 3 51970485 51970485 single base substitution C T missense_variant V202I 604G>A STAD-US 3 51978146 51978146 single base substitution C T upstream_gene_variant STAD-US 3 51978417 51978417 single base substitution C T upstream_gene_variant STAD-US 3 51978458 51978458 single base substitution A G upstream_gene_variant STAD-US 3 51979157 51979157 single base substitution G A upstream_gene_variant STAD-US 3 51979569 51979569 single base substitution C T upstream_gene_variant STAD-US 3 51979583 51979583 single base substitution C T upstream_gene_variant STAD-US 3 51980202 51980202 single base substitution C T upstream_gene_variant STAD-US 3 51980232 51980232 single base substitution G A upstream_gene_variant THCA-SA 3 51977429 51977429 single base substitution C T upstream_gene_variant THCA-SA 3 51980193 51980193 single base substitution C T upstream_gene_variant THCA-US 3 51969488 51969488 single base substitution C T missense_variant G281R 841G>A UCEC-US 3 51967609 51967609 single base substitution G T synonymous_variant G447G 1341C>A UCEC-US 3 51969223 51969223 single base substitution C T missense_variant A342T 1024G>A UCEC-US 3 51969265 51969265 single base substitution C T missense_variant D328N 982G>A UCEC-US 3 51969628 51969628 single base substitution C T synonymous_variant E272E 816G>A UCEC-US 3 51970561 51970561 single base substitution C T synonymous_variant E176E 528G>A UCEC-US 3 51971581 51971581 single base substitution G A stop_gained Q124* 370C>T UCEC-US 3 51972149 51972149 single base substitution C T missense_variant R81H 242G>A UCEC-US 3 51978146 51978146 single base substitution C T upstream_gene_variant UCEC-US 3 51978459 51978459 single base substitution G T upstream_gene_variant UCEC-US 3 51978481 51978481 single base substitution C T upstream_gene_variant UCEC-US 3 51978570 51978570 single base substitution T C upstream_gene_variant UCEC-US 3 51978832 51978832 single base substitution G A upstream_gene_variant UCEC-US 3 51978880 51978880 single base substitution C A upstream_gene_variant UCEC-US 3 51979514 51979514 single base substitution C A upstream_gene_variant UCEC-US 3 51979926 51979926 single base substitution C T upstream_gene_variant UCEC-US 3 51980337 51980337 single base substitution G T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EK-A2RK-01 COSM4829093 c.537G>A p.R179R Substitution - coding silent 3:51936536-51936536 - TCGA-BR-8081-01 COSM4118899 c.1229G>A p.R410Q Substitution - Missense 3:51934503-51934503 - TCGA-DK-A3WX-01 COSM3775210 c.1417G>A p.A473T Substitution - Missense 3:51933517-51933517 - YUROG COSM5399700 c.626C>T p.S209F Substitution - Missense 3:51936447-51936447 - Pat_45_B COSM5864945 c.97G>A p.A33T Substitution - Missense 3:51941482-51941482 - TCGA-EE-A2MU-06 COSM3595840 c.787C>T p.R263C Substitution - Missense 3:51935641-51935641 - CSCC-11-T COSM4460462 c.1167C>T p.D389D Substitution - coding silent 3:51934644-51934644 - C086 COSM5538402 c.318C>T p.D106D Substitution - coding silent 3:51937699-51937699 - ME043T COSM228356 c.938C>T p.P313L Substitution - Missense 3:51935375-51935375 - Pat_55_A COSM5864944 c.851A>G p.D284G Substitution - Missense 3:51935462-51935462 - TCGA-A2-A0T5-01 COSM3824264 c.1348T>G p.W450G Substitution - Missense 3:51933586-51933586 - TCGA-A8-A06Q-01 COSM5834707 c.842_843insCC p.Q283fs*11 Insertion - Frameshift 3:51935470-51935471 - TCGA-FS-A4FD-06 COSM3595838 c.1155C>T p.L385L Substitution - coding silent 3:51934656-51934656 - TCGA-AP-A059-01 COSM1046764 c.982G>A p.D328N Substitution - Missense 3:51935249-51935249 - ESCC_103 COSM5638250 c.101G>C p.G34A Substitution - Missense 3:51941478-51941478 - TCGA-EE-A2A0-06 COSM3595842 c.459C>T p.V153V Substitution - coding silent 3:51937250-51937250 - HCC39 COSM1617824 c.1181-5C>T p.? Unknown 3:51934556-51934556 - TCGA-EE-A2MJ-06 COSM3595836 c.1305C>T p.F435F Substitution - coding silent 3:51933737-51933737 - TCGA-12-0618-01 COSM3408777 c.742G>A p.A248T Substitution - Missense 3:51935686-51935686 - C086 COSM3595833 c.1424C>T p.S475F Substitution - Missense 3:51933510-51933510 - CHC306T COSM251112 c.1202G>T p.R401L Substitution - Missense 3:51934530-51934530 - TCGA-EE-A2MR-06 COSM2852245 c.301C>T p.R101C Substitution - Missense 3:51937716-51937716 - LIM2405 COSM4642788 c.1202G>A p.R401Q Substitution - Missense 3:51934530-51934530 - YULONE COSM5399701 c.285G>A p.E95E Substitution - coding silent 3:51937732-51937732 - TCGA-D3-A3MV-06 COSM3595834 c.1393C>T p.R465C Substitution - Missense 3:51933541-51933541 - PT33 COSM5908332 c.1411C>T p.P471S Substitution - Missense 3:51933523-51933523 - TCGA-AC-A23H-01 COSM3824265 c.949C>T p.Q317* Substitution - Nonsense 3:51935364-51935364 - pfg068T COSM4755202 c.778T>C p.S260P Substitution - Missense 3:51935650-51935650 - CHC892T COSM4793917 c.1322G>A p.G441E Substitution - Missense 3:51933720-51933720 - TCGA-DW-5560-01 COSM3993190 c.427C>T p.R143W Substitution - Missense 3:51937282-51937282 - CSCC-31-T COSM4513690 c.947C>T p.S316F Substitution - Missense 3:51935366-51935366 - TCGA-B1-A47N-01 COSM4414320 c.1152C>T p.A384A Substitution - coding silent 3:51934659-51934659 - TCGA-21-1070-01 COSM731151 c.554C>T p.P185L Substitution - Missense 3:51936519-51936519 - HCC128T COSM1617825 c.869A>G p.D290G Substitution - Missense 3:51935444-51935444 - CSCC-27-T COSM4459772 c.1139C>T p.S380L Substitution - Missense 3:51934672-51934672 - CHC306T COSM3669160 c.1206T>G p.L402L Substitution - coding silent 3:51934526-51934526 - BHY COSM1046763 c.1024G>A p.A342T Substitution - Missense 3:51935207-51935207 - TCGA-AP-A059-01 COSM1046765 c.816G>A p.E272E Substitution - coding silent 3:51935612-51935612 - TCGA-B5-A0JR-01 COSM1046762 c.1341C>A p.G447G Substitution - coding silent 3:51933593-51933593 - BB23T COSM33243 c.1025C>A p.A342E Substitution - Missense 3:51935206-51935206 - CHC306T COSM251112 c.1202G>T p.R401L Substitution - Missense 3:51934530-51934530 - LUAD-D01382 COSM337120 c.239T>A p.L80Q Substitution - Missense 3:51938136-51938136 - sysucc-882T COSM5447570 c.390+6T>C p.? Unknown 3:51937539-51937539 - 8051734 COSM4135367 c.428G>A p.R143Q Substitution - Missense 3:51937281-51937281 - TCGA-FW-A3R5-06 COSM3916358 c.960C>T p.F320F Substitution - coding silent 3:51935353-51935353 - TCGA-B0-4690-01 COSM3365248 c.240G>C p.L80L Substitution - coding silent 3:51938135-51938135 - C086 COSM5538401 c.1184C>T p.S395F Substitution - Missense 3:51934548-51934548 - LUAD-S01315 COSM345544 c.1321G>T p.G441W Substitution - Missense 3:51933721-51933721 - TCGA-B5-A0JY-01 COSM1046766 c.528G>A p.E176E Substitution - coding silent 3:51936545-51936545 - T155 COSM1176870 c.135G>T p.M45I Substitution - Missense 3:51941444-51941444 - T1154 COSM4722900 c.1092T>G p.A364A Substitution - coding silent 3:51934719-51934719 - TCGA-AA-3833-01 COSM271512 c.1147G>A p.A383T Substitution - Missense 3:51934664-51934664 - T256 COSM1424313 c.208_210delGAG p.E70delE Deletion - In frame 3:51938165-51938167 - 0006_CRUK_PC_0006_T1_DNA COSM3849635 c.144G>T p.E48D Substitution - Missense 3:51941435-51941435 - TCGA-HU-A4GX-01 COSM3595840 c.787C>T p.R263C Substitution - Missense 3:51935641-51935641 - 587342 COSM1224325 c.241C>T p.R81C Substitution - Missense 3:51938134-51938134 - RKO COSM2852242 c.367C>T p.L123L Substitution - coding silent 3:51937568-51937568 - TCGA-HU-A4GD-01 COSM3595840 c.787C>T p.R263C Substitution - Missense 3:51935641-51935641 - TCGA-04-1331-01 COSM72495 c.132G>T p.K44N Substitution - Missense 3:51941447-51941447 - MO_1410 COSM3595841 c.486C>T p.F162F Substitution - coding silent 3:51937223-51937223 - TCGA-AA-3672-01 COSM267365 c.722G>A p.R241Q Substitution - Missense 3:51936270-51936270 - CCK81 COSM2852233 c.604G>A p.V202I Substitution - Missense 3:51936469-51936469 - TCGA-C5-A1BL-01 COSM4836998 c.793G>A p.V265M Substitution - Missense 3:51935635-51935635 - TCGA-BJ-A18Y-01 COSM3373249 c.841G>A p.G281R Substitution - Missense 3:51935472-51935472 - TCGA-EK-A3GK-01 COSM4853001 c.1392C>A p.L464L Substitution - coding silent 3:51933542-51933542 - PCSI_0048_Pa_P_526 COSM3781846 c.1081C>A p.Q361K Substitution - Missense 3:51934730-51934730 - Gp5D COSM2852231 c.656G>A p.R219H Substitution - Missense 3:51936336-51936336 - PD5934a COSM5801165 c.910_917delGATGGGAC p.D304fs*29 Deletion - Frameshift 3:51935396-51935403 - SJHGG034_D COSM4970560 c.1201C>T p.R401W Substitution - Missense 3:51934531-51934531 - TCGA-CK-4952-01 COSM1424312 c.625_627delTCC p.S209delS Deletion - In frame 3:51936446-51936448 - RKO COSM2852244 c.347T>C p.V116A Substitution - Missense 3:51937670-51937670 - TCGA-D9-A3Z1-06 COSM3595843 c.443C>T p.S148F Substitution - Missense 3:51937266-51937266 - TCGA-B7-5816-01 COSM4118901 c.721C>T p.R241W Substitution - Missense 3:51936271-51936271 - PT09_2 COSM5895130 c.518-1G>A p.? Unknown 3:51936556-51936556 - TCGA-FS-A1ZE-06 COSM3595841 c.486C>T p.F162F Substitution - coding silent 3:51937223-51937223 - 034T COSM1728576 c.1252A>G p.I418V Substitution - Missense 3:51934480-51934480 - TCGA-BR-8589-01 COSM4118900 c.900T>C p.A300A Substitution - coding silent 3:51935413-51935413 - HCC1187 COSM32570 c.22C>G p.R8G Substitution - Missense 3:51941846-51941846 - TCGA-EE-A2MJ-06 COSM3595837 c.1258C>T p.L420L Substitution - coding silent 3:51934474-51934474 - TCGA-DM-A0XF-01 COSM1424311 c.1051G>T p.G351C Substitution - Missense 3:51934760-51934760 - 473 COSM4438177 c.174A>T p.L58L Substitution - coding silent 3:51938201-51938201 - T3021 COSM2852243 c.349-1G>A p.? Unknown 3:51937587-51937587 - TCGA-AP-A059-01 COSM1046767 c.370C>T p.Q124* Substitution - Nonsense 3:51937565-51937565 - TCGA-BP-5176-01 COSM480265 c.465C>A p.T155T Substitution - coding silent 3:51937244-51937244 - TCGA-AA-3663-01 COSM1424314 c.142_144delGAG p.E48delE Deletion - In frame 3:51941435-51941437 - TCGA-EE-A29V-06 COSM3595839 c.1020C>T p.S340S Substitution - coding silent 3:51935211-51935211 - CHC892T COSM4793917 c.1322G>A p.G441E Substitution - Missense 3:51933720-51933720 - TCGA-A5-A0VP-01 COSM1046763 c.1024G>A p.A342T Substitution - Missense 3:51935207-51935207 - 49M COSM5592944 c.393C>T p.I131I Substitution - coding silent 3:51937316-51937316 - TCGA-CG-4442-01 COSM2852233 c.604G>A p.V202I Substitution - Missense 3:51936469-51936469 - C135 COSM4618360 c.1A>C p.M1L Substitution - Missense 3:51941867-51941867 - HCC39T COSM1617824 c.1181-5C>T p.? Unknown 3:51934556-51934556 - SA218 COSM212390 c.1318G>A p.V440I Substitution - Missense 3:51933724-51933724 - Gp2D COSM2852231 c.656G>A p.R219H Substitution - Missense 3:51936336-51936336 - 6115219 COSM5565500 c.907C>T p.R303W Substitution - Missense 3:51935406-51935406 - CRC-02T COSM5455210 c.573C>A p.A191A Substitution - coding silent 3:51936500-51936500 - TCGA-DD-A73A-01 COSM4916559 c.858G>A p.V286V Substitution - coding silent 3:51935455-51935455 - TCGA-EE-A2GP-06 COSM3595835 c.1366C>T p.R456W Substitution - Missense 3:51933568-51933568 - TCGA-66-2770-01 COSM731152 c.1366C>A p.R456R Substitution - coding silent 3:51933568-51933568 - TCGA-AX-A0J0-01 COSM1046768 c.242G>A p.R81H Substitution - Missense 3:51938133-51938133 - TCGA-EB-A5UM-01 COSM3595833 c.1424C>T p.S475F Substitution - Missense 3:51933510-51933510 - CHC306T COSM3669160 c.1206T>G p.L402L Substitution - coding silent 3:51934526-51934526 - TCGA-AG-4007-01 COSM259083 c.272G>A p.R91H Substitution - Missense 3:51938103-51938103 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.153768 3p21.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.C151W c.453T>G 3 51971272 COREAD A - Frameshift p.L352Pfs*89 c.1055delT 3 51968772 CM A T Missense p.L80Q c.239T>A 3 51972152 LUAD C A Missense p.K44N c.132G>T 3 51975463 OV C G Missense p.G369A c.1106G>C 3 51968721 LUAD C G Synonymous p.L80L c.240G>C 3 51972151 RCCC C T Missense p.A248T c.742G>A 3 51969702 GBM C T Missense p.G281R c.841G>A 3 51969488 THCA C T Missense p.R91H c.272G>A 3 51972119 COREAD C T Missense p.V440I c.1318G>A 3 51967740 BRCA G A Missense p.P185L c.554C>T 3 51970535 LUSC G A Missense p.P313L c.938C>T 3 51969391 CM G A Missense p.R241W c.721C>T 3 51970287 STAD G A Missense p.R456W c.1366C>T 3 51967584 CM G A Missense p.R465C c.1393C>T 3 51967557 CM G A Missense p.S208F c.623C>T 3 51970466 CM G A Synonymous p.C296C c.888C>T 3 51969441 CM G A Synonymous p.F162F c.486C>T 3 51971239 CM G A Synonymous p.F435F c.1305C>T 3 51967753 CM G A Synonymous p.L420L c.1258C>T 3 51968490 CM G A Synonymous p.S340S c.1020C>T 3 51969227 CM G A Synonymous p.V153V c.459C>T 3 51971266 CM G T Synonymous p.G447G c.1341C>A 3 51967609 UCEC G T Synonymous p.R456R c.1366C>A 3 51967584 LUSC G T Synonymous p.T155T c.465C>A 3 51971260 RCCC