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 17 33463472 33463472 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 g.chr17:33463472G>A c.873C>T c.(871-873)aaC>aaT p.N291N BLCA 17 33464878 33464878 + Missense_Mutation SNP C C A TCGA-K4-A5RI-01A-11D-A289-08 TCGA-K4-A5RI-10A-01D-A289-08 g.chr17:33464878C>A c.492G>T c.(490-492)tgG>tgT p.W164C BLCA 17 33467040 33467040 + Missense_Mutation SNP C C T TCGA-UY-A9PF-01A-11D-A38G-08 TCGA-UY-A9PF-10A-01D-A38J-08 g.chr17:33467040C>T c.208G>A c.(208-210)Gtc>Atc p.V70I BLCA 17 33469022 33469022 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr17:33469022G>A c.138C>T c.(136-138)ctC>ctT p.L46L BRCA 17 33463230 33463230 + Silent SNP C C T TCGA-BH-A0BM-01A-11W-A071-09 TCGA-BH-A0BM-10A-01W-A071-09 g.chr17:33463230C>T c.969G>A c.(967-969)caG>caA p.Q323Q BRCA 17 33463426 33463426 + Missense_Mutation SNP C C G TCGA-A8-A08L-01A-11W-A019-09 TCGA-A8-A08L-10A-01W-A021-09 g.chr17:33463426C>G c.919G>C c.(919-921)Gaa>Caa p.E307Q CESC 17 33467052 33467052 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 g.chr17:33467052C>T c.196G>A c.(196-198)Gat>Aat p.D66N COAD 17 33460442 33460442 + Silent SNP G G C TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr17:33460442G>C c.1290C>G c.(1288-1290)gtC>gtG p.V430V COAD 17 33460468 33460468 + Missense_Mutation SNP A A C TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr17:33460468A>C c.1264T>G c.(1264-1266)Tgg>Ggg p.W422G COAD 17 33460469 33460469 + Silent SNP C C T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr17:33460469C>T c.1263G>A c.(1261-1263)gcG>gcA p.A421A COAD 17 33463189 33463189 + Splice_Site SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr17:33463189C>T c.1010G>A c.(1009-1011)cGg>cAg p.R337Q COAD 17 33463390 33463390 + Nonsense_Mutation SNP G G A TCGA-D5-5538-01A-01D-1650-10 TCGA-D5-5538-10A-02D-1650-10 g.chr17:33463390G>A c.955C>T c.(955-957)Caa>Taa p.Q319* COAD 17 33463440 33463440 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr17:33463440C>T c.905G>A c.(904-906)cGc>cAc p.R302H COAD 17 33464077 33464077 + Missense_Mutation SNP G G C TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr17:33464077G>C c.771C>G c.(769-771)gaC>gaG p.D257E COAD 17 33464119 33464119 + Silent SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr17:33464119G>A c.729C>T c.(727-729)acC>acT p.T243T COAD 17 33464130 33464130 + Missense_Mutation SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr17:33464130G>A c.718C>T c.(718-720)Cgc>Tgc p.R240C COAD 17 33466892 33466892 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr17:33466892G>T c.356C>A c.(355-357)tCt>tAt p.S119Y COADREAD 17 33460366 33460366 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr17:33460366C>T c.1366G>A c.(1366-1368)Gcg>Acg p.A456T COADREAD 17 33460442 33460442 + Silent SNP G G C TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr17:33460442G>C c.1290C>G c.(1288-1290)gtC>gtG p.V430V COADREAD 17 33460468 33460468 + Missense_Mutation SNP A A C TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr17:33460468A>C c.1264T>G c.(1264-1266)Tgg>Ggg p.W422G COADREAD 17 33460469 33460469 + Silent SNP C C T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr17:33460469C>T c.1263G>A c.(1261-1263)gcG>gcA p.A421A COADREAD 17 33463189 33463189 + Splice_Site SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr17:33463189C>T c.1010G>A c.(1009-1011)cGg>cAg p.R337Q COADREAD 17 33463390 33463390 + Nonsense_Mutation SNP G G A TCGA-D5-5538-01A-01D-1650-10 TCGA-D5-5538-10A-02D-1650-10 g.chr17:33463390G>A c.955C>T c.(955-957)Caa>Taa p.Q319* COADREAD 17 33463440 33463440 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr17:33463440C>T c.905G>A c.(904-906)cGc>cAc p.R302H COADREAD 17 33464077 33464077 + Missense_Mutation SNP G G C TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr17:33464077G>C c.771C>G c.(769-771)gaC>gaG p.D257E COADREAD 17 33464119 33464119 + Silent SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr17:33464119G>A c.729C>T c.(727-729)acC>acT p.T243T COADREAD 17 33464130 33464130 + Missense_Mutation SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr17:33464130G>A c.718C>T c.(718-720)Cgc>Tgc p.R240C COADREAD 17 33466892 33466892 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr17:33466892G>T c.356C>A c.(355-357)tCt>tAt p.S119Y ESCA 17 33462280 33462280 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr17:33462280C>A c.1202G>T c.(1201-1203)gGc>gTc p.G401V ESCA 17 33464163 33464163 + Missense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 g.chr17:33464163G>A c.685C>T c.(685-687)Cgg>Tgg p.R229W GBM 17 33463392 33463392 + Missense_Mutation SNP A A G TCGA-26-6173-01A-11D-1845-08 TCGA-26-6173-10A-01D-1845-08 g.chr17:33463392A>G c.953T>C c.(952-954)cTc>cCc p.L318P GBMLGG 17 33463392 33463392 + Missense_Mutation SNP A A G TCGA-26-6173-01A-11D-1845-08 TCGA-26-6173-10A-01D-1845-08 g.chr17:33463392A>G c.953T>C c.(952-954)cTc>cCc p.L318P GBMLGG 17 33464147 33464147 + Missense_Mutation SNP G G T TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 g.chr17:33464147G>T c.701C>A c.(700-702)aCt>aAt p.T234N GBMLGG 17 33464148 33464148 + Missense_Mutation SNP T T A TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 g.chr17:33464148T>A c.700A>T c.(700-702)Act>Tct p.T234S GBMLGG 17 33464163 33464163 + Missense_Mutation SNP G G A TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 g.chr17:33464163G>A c.685C>T c.(685-687)Cgg>Tgg p.R229W HNSC 17 33460199 33460199 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr17:33460199C>A c.1436G>T c.(1435-1437)tGc>tTc p.C479F HNSC 17 33469078 33469078 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 g.chr17:33469078G>A c.82C>T c.(82-84)Ctg>Ttg p.L28L KICH 17 33469279 33469279 + Missense_Mutation SNP G G C TCGA-KN-8434-01A-11D-2310-10 TCGA-KN-8434-11A-01D-2311-10 g.chr17:33469279G>C c.16C>G c.(16-18)Ccg>Gcg p.P6A KIPAN 17 33463419 33463419 + Missense_Mutation SNP G G C TCGA-B0-4694-01A-01D-1361-10 TCGA-B0-4694-11A-01D-1361-10 g.chr17:33463419G>C c.926C>G c.(925-927)gCt>gGt p.A309G KIPAN 17 33464021 33464021 + Splice_Site SNP T T G TCGA-B8-5158-01A-01D-1421-08 TCGA-B8-5158-10A-01D-1421-08 g.chr17:33464021T>G c.827A>C c.(826-828)gAc>gCc p.D276A KIPAN 17 33469279 33469279 + Missense_Mutation SNP G G C TCGA-KN-8434-01A-11D-2310-10 TCGA-KN-8434-11A-01D-2311-10 g.chr17:33469279G>C c.16C>G c.(16-18)Ccg>Gcg p.P6A KIRC 17 33463419 33463419 + Missense_Mutation SNP G G C TCGA-B0-4694-01A-01D-1361-10 TCGA-B0-4694-11A-01D-1361-10 g.chr17:33463419G>C c.926C>G c.(925-927)gCt>gGt p.A309G KIRC 17 33464021 33464021 + Splice_Site SNP T T G TCGA-B8-5158-01A-01D-1421-08 TCGA-B8-5158-10A-01D-1421-08 g.chr17:33464021T>G c.827A>C c.(826-828)gAc>gCc p.D276A LGG 17 33464147 33464147 + Missense_Mutation SNP G G T TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 g.chr17:33464147G>T c.701C>A c.(700-702)aCt>aAt p.T234N LGG 17 33464148 33464148 + Missense_Mutation SNP T T A TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 g.chr17:33464148T>A c.700A>T c.(700-702)Act>Tct p.T234S LGG 17 33464163 33464163 + Missense_Mutation SNP G G A TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 g.chr17:33464163G>A c.685C>T c.(685-687)Cgg>Tgg p.R229W LIHC 17 33460235 33460235 + Missense_Mutation SNP T T C TCGA-CC-A3MB-01A-11D-A20W-10 TCGA-CC-A3MB-10A-01D-A20W-10 g.chr17:33460235T>C c.1400A>G c.(1399-1401)gAt>gGt p.D467G LIHC 17 33460449 33460449 + Missense_Mutation SNP A A G TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr17:33460449A>G c.1283T>C c.(1282-1284)cTc>cCc p.L428P LIHC 17 33462285 33462285 + Missense_Mutation SNP C C A TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr17:33462285C>A c.1197G>T c.(1195-1197)tgG>tgT p.W399C LIHC 17 33469091 33469091 + Silent SNP A A G TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr17:33469091A>G c.69T>C c.(67-69)gaT>gaC p.D23D LUAD 17 33462471 33462471 + Splice_Site SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 g.chr17:33462471C>G c.e10-1 LUAD 17 33463193 33463193 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr17:33463193C>A c.1006G>T c.(1006-1008)Gtg>Ttg p.V336L LUAD 17 33463440 33463440 + Missense_Mutation SNP C C T TCGA-17-Z018-01A-01W-0746-08 TCGA-17-Z018-11A-01W-0746-08 g.chr17:33463440C>T c.905G>A c.(904-906)cGc>cAc p.R302H LUAD 17 33464163 33464163 + Silent SNP G G T TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr17:33464163G>T c.685C>A c.(685-687)Cgg>Agg p.R229R LUAD 17 33464164 33464164 + Silent SNP C C T TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr17:33464164C>T c.684G>A c.(682-684)gtG>gtA p.V228V LUAD 17 33464656 33464656 + Missense_Mutation SNP G G C TCGA-62-A470-01A-11D-A24D-08 TCGA-62-A470-10A-01D-A24F-08 g.chr17:33464656G>C c.541C>G c.(541-543)Ctc>Gtc p.L181V LUAD 17 33467047 33467047 + Silent SNP A A C TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 g.chr17:33467047A>C c.201T>G c.(199-201)gcT>gcG p.A67A LUAD 17 33469093 33469093 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 g.chr17:33469093C>A c.67G>T c.(67-69)Gat>Tat p.D23Y LUSC 17 33463218 33463218 + Silent SNP C C T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 g.chr17:33463218C>T c.981G>A c.(979-981)gaG>gaA p.E327E OV 17 33460466 33460466 + Missense_Mutation SNP C C A TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 g.chr17:33460466C>A c.1266G>T c.(1264-1266)tgG>tgT p.W422C PAAD 17 33463193 33463193 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:33463193C>T c.1006G>A c.(1006-1008)Gtg>Atg p.V336M PAAD 17 33464116 33464116 + Silent SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:33464116C>A c.732G>T c.(730-732)ggG>ggT p.G244G PAAD 17 33467027 33467027 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:33467027C>A c.221G>T c.(220-222)gGg>gTg p.G74V PRAD 17 33462276 33462276 + Silent SNP C C T TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 g.chr17:33462276C>T c.1206G>A c.(1204-1206)agG>agA p.R402R READ 17 33460366 33460366 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr17:33460366C>T c.1366G>A c.(1366-1368)Gcg>Acg p.A456T SKCM 17 33464139 33464139 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr17:33464139G>A c.709C>T c.(709-711)Cgc>Tgc p.R237C SKCM 17 33464654 33464654 + Silent SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr17:33464654G>A c.543C>T c.(541-543)ctC>ctT p.L181L SKCM 17 33466921 33466921 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr17:33466921G>A c.327C>T c.(325-327)tcC>tcT p.S109S SKCM 17 33466948 33466948 + Silent SNP G G T TCGA-FS-A1Z7-06A-11D-A197-08 TCGA-FS-A1Z7-10A-01D-A199-08 g.chr17:33466948G>T c.300C>A c.(298-300)gtC>gtA p.V100V

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 17 33460246 33460246 single base substitution G A downstream_gene_variant BLCA-CN 17 33460246 33460246 single base substitution G A synonymous_variant D171D 513C>T BLCA-CN 17 33460246 33460246 single base substitution G A synonymous_variant D281D 843C>T BLCA-CN 17 33460246 33460246 single base substitution G A synonymous_variant D421D 1263C>T BLCA-CN 17 33460246 33460246 single base substitution G A synonymous_variant D463D 1389C>T BLCA-US 17 33463472 33463472 single base substitution G A 3_prime_UTR_variant BLCA-US 17 33463472 33463472 single base substitution G A 5_prime_UTR_variant BLCA-US 17 33463472 33463472 single base substitution G A downstream_gene_variant BLCA-US 17 33463472 33463472 single base substitution G A synonymous_variant N249N 747C>T BLCA-US 17 33463472 33463472 single base substitution G A synonymous_variant N291N 873C>T BLCA-US 17 33463472 33463472 single base substitution G A synonymous_variant N70N 210C>T BOCA-FR 17 33456963 33456963 single base substitution G A 3_prime_UTR_variant BOCA-FR 17 33456963 33456963 single base substitution G A downstream_gene_variant BRCA-EU 17 33452616 33452616 single base substitution T C downstream_gene_variant BRCA-EU 17 33452758 33452758 single base substitution G A downstream_gene_variant BRCA-EU 17 33452968 33452980 deletion of <=200bp CTCACTCTGTTGC - downstream_gene_variant BRCA-EU 17 33453556 33453556 single base substitution C G downstream_gene_variant BRCA-EU 17 33454430 33454430 single base substitution A G downstream_gene_variant BRCA-EU 17 33458191 33458191 single base substitution G C 3_prime_UTR_variant BRCA-EU 17 33458191 33458191 single base substitution G C downstream_gene_variant BRCA-EU 17 33460365 33460365 single base substitution G A downstream_gene_variant BRCA-EU 17 33460365 33460365 single base substitution G A missense_variant A164V 491C>T BRCA-EU 17 33460365 33460365 single base substitution G A missense_variant A274V 821C>T BRCA-EU 17 33460365 33460365 single base substitution G A missense_variant A414V 1241C>T BRCA-EU 17 33460365 33460365 single base substitution G A missense_variant A456V 1367C>T BRCA-EU 17 33460516 33460516 single base substitution A G downstream_gene_variant BRCA-EU 17 33460516 33460516 single base substitution A G missense_variant Y114H 340T>C BRCA-EU 17 33460516 33460516 single base substitution A G missense_variant Y224H 670T>C BRCA-EU 17 33460516 33460516 single base substitution A G missense_variant Y364H 1090T>C BRCA-EU 17 33460516 33460516 single base substitution A G missense_variant Y406H 1216T>C BRCA-EU 17 33460518 33460518 single base substitution C T downstream_gene_variant BRCA-EU 17 33460518 33460518 single base substitution C T splice_acceptor_variant BRCA-EU 17 33461635 33461635 single base substitution T C downstream_gene_variant BRCA-EU 17 33461635 33461635 single base substitution T C intron_variant BRCA-EU 17 33463650 33463650 single base substitution G A downstream_gene_variant BRCA-EU 17 33463650 33463650 single base substitution G A intron_variant BRCA-EU 17 33463687 33463687 single base substitution G C downstream_gene_variant BRCA-EU 17 33463687 33463687 single base substitution G C intron_variant BRCA-EU 17 33464177 33464177 single base substitution T C 3_prime_UTR_variant BRCA-EU 17 33464177 33464177 single base substitution T C 5_prime_UTR_variant BRCA-EU 17 33464177 33464177 single base substitution T C exon_variant BRCA-EU 17 33464177 33464177 single base substitution T C missense_variant K182R 545A>G BRCA-EU 17 33464177 33464177 single base substitution T C missense_variant K224R 671A>G BRCA-EU 17 33464177 33464177 single base substitution T C missense_variant K3R 8A>G BRCA-EU 17 33465331 33465331 single base substitution G A intron_variant BRCA-EU 17 33465331 33465331 single base substitution G A upstream_gene_variant BRCA-EU 17 33465562 33465562 single base substitution G A intron_variant BRCA-EU 17 33465562 33465562 single base substitution G A upstream_gene_variant BRCA-EU 17 33465678 33465678 single base substitution G T intron_variant BRCA-EU 17 33465678 33465678 single base substitution G T upstream_gene_variant BRCA-EU 17 33465977 33465977 single base substitution G C intron_variant BRCA-EU 17 33465977 33465977 single base substitution G C upstream_gene_variant BRCA-EU 17 33466135 33466135 single base substitution C A intron_variant BRCA-EU 17 33466135 33466135 single base substitution C A upstream_gene_variant BRCA-EU 17 33469978 33469978 single base substitution C T upstream_gene_variant BRCA-EU 17 33470378 33470378 single base substitution C G upstream_gene_variant BRCA-EU 17 33471637 33471637 single base substitution G C upstream_gene_variant BRCA-FR 17 33458543 33458543 single base substitution G A 3_prime_UTR_variant BRCA-FR 17 33458543 33458543 single base substitution G A downstream_gene_variant BRCA-FR 17 33460365 33460365 single base substitution G A downstream_gene_variant BRCA-FR 17 33460365 33460365 single base substitution G A missense_variant A164V 491C>T BRCA-FR 17 33460365 33460365 single base substitution G A missense_variant A274V 821C>T BRCA-FR 17 33460365 33460365 single base substitution G A missense_variant A414V 1241C>T BRCA-FR 17 33460365 33460365 single base substitution G A missense_variant A456V 1367C>T BRCA-UK 17 33453556 33453556 single base substitution C G downstream_gene_variant BRCA-UK 17 33463687 33463687 single base substitution G C downstream_gene_variant BRCA-UK 17 33463687 33463687 single base substitution G C intron_variant BRCA-US 17 33456560 33456560 single base substitution C T 3_prime_UTR_variant BRCA-US 17 33456560 33456560 single base substitution C T downstream_gene_variant BRCA-US 17 33463230 33463230 single base substitution C T downstream_gene_variant BRCA-US 17 33463230 33463230 single base substitution C T synonymous_variant Q102Q 306G>A BRCA-US 17 33463230 33463230 single base substitution C T synonymous_variant Q281Q 843G>A BRCA-US 17 33463230 33463230 single base substitution C T synonymous_variant Q31Q 93G>A BRCA-US 17 33463230 33463230 single base substitution C T synonymous_variant Q323Q 969G>A BRCA-US 17 33463426 33463426 single base substitution C G 3_prime_UTR_variant BRCA-US 17 33463426 33463426 single base substitution C G downstream_gene_variant BRCA-US 17 33463426 33463426 single base substitution C G missense_variant E15Q 43G>C BRCA-US 17 33463426 33463426 single base substitution C G missense_variant E265Q 793G>C BRCA-US 17 33463426 33463426 single base substitution C G missense_variant E307Q 919G>C BRCA-US 17 33463426 33463426 single base substitution C G missense_variant E86Q 256G>C BTCA-JP 17 33456473 33456473 single base substitution G A 3_prime_UTR_variant BTCA-JP 17 33456473 33456473 single base substitution G A downstream_gene_variant BTCA-JP 17 33456629 33456629 single base substitution C T 3_prime_UTR_variant BTCA-JP 17 33456629 33456629 single base substitution C T downstream_gene_variant BTCA-JP 17 33462320 33462320 single base substitution C T downstream_gene_variant BTCA-JP 17 33462320 33462320 single base substitution C T missense_variant A167T 499G>A BTCA-JP 17 33462320 33462320 single base substitution C T missense_variant A346T 1036G>A BTCA-JP 17 33462320 33462320 single base substitution C T missense_variant A388T 1162G>A BTCA-JP 17 33462320 33462320 single base substitution C T missense_variant A96T 286G>A BTCA-JP 17 33464088 33464088 single base substitution A G 3_prime_UTR_variant BTCA-JP 17 33464088 33464088 single base substitution A G 5_prime_UTR_variant BTCA-JP 17 33464088 33464088 single base substitution A G exon_variant BTCA-JP 17 33464088 33464088 single base substitution A G missense_variant W212R 634T>C BTCA-JP 17 33464088 33464088 single base substitution A G missense_variant W254R 760T>C BTCA-JP 17 33464088 33464088 single base substitution A G missense_variant W33R 97T>C CESC-US 17 33467052 33467052 single base substitution C T 5_prime_UTR_variant CESC-US 17 33467052 33467052 single base substitution C T exon_variant CESC-US 17 33467052 33467052 single base substitution C T intron_variant CESC-US 17 33467052 33467052 single base substitution C T missense_variant D66N 196G>A CESC-US 17 33467052 33467052 single base substitution C T upstream_gene_variant CLLE-ES 17 33462448 33462448 single base substitution A C downstream_gene_variant CLLE-ES 17 33462448 33462448 single base substitution A C missense_variant V124G 371T>G CLLE-ES 17 33462448 33462448 single base substitution A C missense_variant V303G 908T>G CLLE-ES 17 33462448 33462448 single base substitution A C missense_variant V345G 1034T>G CLLE-ES 17 33462448 33462448 single base substitution A C missense_variant V53G 158T>G COAD-US 17 33457361 33457361 single base substitution G A 3_prime_UTR_variant COAD-US 17 33457361 33457361 single base substitution G A downstream_gene_variant COAD-US 17 33457379 33457379 single base substitution C T 3_prime_UTR_variant COAD-US 17 33457379 33457379 single base substitution C T downstream_gene_variant COAD-US 17 33460442 33460442 single base substitution G C downstream_gene_variant COAD-US 17 33460442 33460442 single base substitution G C synonymous_variant V138V 414C>G COAD-US 17 33460442 33460442 single base substitution G C synonymous_variant V248V 744C>G COAD-US 17 33460442 33460442 single base substitution G C synonymous_variant V388V 1164C>G COAD-US 17 33460442 33460442 single base substitution G C synonymous_variant V430V 1290C>G COAD-US 17 33460469 33460469 single base substitution C T downstream_gene_variant COAD-US 17 33460469 33460469 single base substitution C T synonymous_variant A129A 387G>A COAD-US 17 33460469 33460469 single base substitution C T synonymous_variant A239A 717G>A COAD-US 17 33460469 33460469 single base substitution C T synonymous_variant A379A 1137G>A COAD-US 17 33460469 33460469 single base substitution C T synonymous_variant A421A 1263G>A COAD-US 17 33460499 33460499 single base substitution G A downstream_gene_variant COAD-US 17 33460499 33460499 single base substitution G A synonymous_variant R119R 357C>T COAD-US 17 33460499 33460499 single base substitution G A synonymous_variant R229R 687C>T COAD-US 17 33460499 33460499 single base substitution G A synonymous_variant R369R 1107C>T COAD-US 17 33460499 33460499 single base substitution G A synonymous_variant R411R 1233C>T COAD-US 17 33462270 33462270 single base substitution G A downstream_gene_variant COAD-US 17 33462270 33462270 single base substitution G A splice_region_variant COAD-US 17 33462328 33462328 single base substitution C T downstream_gene_variant COAD-US 17 33462328 33462328 single base substitution C T missense_variant R164H 491G>A COAD-US 17 33462328 33462328 single base substitution C T missense_variant R343H 1028G>A COAD-US 17 33462328 33462328 single base substitution C T missense_variant R385H 1154G>A COAD-US 17 33462328 33462328 single base substitution C T missense_variant R93H 278G>A COAD-US 17 33463213 33463213 single base substitution G A downstream_gene_variant COAD-US 17 33463213 33463213 single base substitution G A missense_variant A108V 323C>T COAD-US 17 33463213 33463213 single base substitution G A missense_variant A287V 860C>T COAD-US 17 33463213 33463213 single base substitution G A missense_variant A329V 986C>T COAD-US 17 33463213 33463213 single base substitution G A missense_variant A37V 110C>T COAD-US 17 33464077 33464077 single base substitution G C 3_prime_UTR_variant COAD-US 17 33464077 33464077 single base substitution G C 5_prime_UTR_variant COAD-US 17 33464077 33464077 single base substitution G C exon_variant COAD-US 17 33464077 33464077 single base substitution G C missense_variant D215E 645C>G COAD-US 17 33464077 33464077 single base substitution G C missense_variant D257E 771C>G COAD-US 17 33464077 33464077 single base substitution G C missense_variant D36E 108C>G COAD-US 17 33464119 33464119 single base substitution G A 3_prime_UTR_variant COAD-US 17 33464119 33464119 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COAD-US 17 33464119 33464119 single base substitution G A exon_variant COAD-US 17 33464119 33464119 single base substitution G A synonymous_variant T201T 603C>T COAD-US 17 33464119 33464119 single base substitution G A synonymous_variant T22T 66C>T COAD-US 17 33464119 33464119 single base substitution G A synonymous_variant T243T 729C>T COAD-US 17 33464130 33464130 single base substitution G A 3_prime_UTR_variant COAD-US 17 33464130 33464130 single base substitution G A 5_prime_UTR_variant COAD-US 17 33464130 33464130 single base substitution G A exon_variant COAD-US 17 33464130 33464130 single base substitution G A missense_variant R198C 592C>T COAD-US 17 33464130 33464130 single base substitution G A missense_variant R19C 55C>T COAD-US 17 33464130 33464130 single base substitution G A missense_variant R240C 718C>T COAD-US 17 33469279 33469279 single base substitution G C 5_prime_UTR_variant COAD-US 17 33469279 33469279 single base substitution G C missense_variant P6A 16C>G COAD-US 17 33469279 33469279 single base substitution G C splice_region_variant COAD-US 17 33469279 33469279 single base substitution G C upstream_gene_variant COCA-CN 17 33454042 33454042 single base substitution G A downstream_gene_variant COCA-CN 17 33454283 33454283 single base substitution G A downstream_gene_variant COCA-CN 17 33456440 33456440 single base substitution G T 3_prime_UTR_variant COCA-CN 17 33456440 33456440 single base substitution G T downstream_gene_variant COCA-CN 17 33456500 33456500 single base substitution G T 3_prime_UTR_variant COCA-CN 17 33456500 33456500 single base substitution G T downstream_gene_variant COCA-CN 17 33456540 33456540 single base substitution A C 3_prime_UTR_variant COCA-CN 17 33456540 33456540 single base substitution A C downstream_gene_variant COCA-CN 17 33463006 33463006 single base substitution G A downstream_gene_variant COCA-CN 17 33463006 33463006 single base substitution G A intron_variant COCA-CN 17 33464719 33464719 single base substitution C T intron_variant COCA-CN 17 33464719 33464719 single base substitution C T upstream_gene_variant COCA-CN 17 33464722 33464722 single base substitution T C intron_variant COCA-CN 17 33464722 33464722 single base substitution T C upstream_gene_variant EOPC-DE 17 33473289 33473289 single base substitution A G upstream_gene_variant ESAD-UK 17 33451503 33451503 single base substitution G A downstream_gene_variant ESAD-UK 17 33451856 33451856 single base substitution C T downstream_gene_variant ESAD-UK 17 33452257 33452257 single base substitution A C downstream_gene_variant ESAD-UK 17 33454415 33454415 single base substitution C T downstream_gene_variant ESAD-UK 17 33454748 33454748 single base substitution G A downstream_gene_variant ESAD-UK 17 33457361 33457361 single base substitution G A 3_prime_UTR_variant ESAD-UK 17 33457361 33457361 single base substitution G A downstream_gene_variant ESAD-UK 17 33460659 33460659 single base substitution G C downstream_gene_variant ESAD-UK 17 33460659 33460659 single base substitution G C intron_variant ESAD-UK 17 33463393 33463393 single base substitution G C 3_prime_UTR_variant ESAD-UK 17 33463393 33463393 single base substitution G C downstream_gene_variant ESAD-UK 17 33463393 33463393 single base substitution G C missense_variant L26V 76C>G ESAD-UK 17 33463393 33463393 single base substitution G C missense_variant L276V 826C>G ESAD-UK 17 33463393 33463393 single base substitution G C missense_variant L318V 952C>G ESAD-UK 17 33463393 33463393 single base substitution G C missense_variant L97V 289C>G ESAD-UK 17 33466965 33466965 single base substitution G A 5_prime_UTR_variant ESAD-UK 17 33466965 33466965 single base substitution G A exon_variant ESAD-UK 17 33466965 33466965 single base substitution G A intron_variant ESAD-UK 17 33466965 33466965 single base substitution G A stop_gained Q95* 283C>T ESAD-UK 17 33466965 33466965 single base substitution G A upstream_gene_variant ESAD-UK 17 33469374 33469374 single base substitution C T upstream_gene_variant ESAD-UK 17 33470734 33470734 single base substitution G A upstream_gene_variant ESAD-UK 17 33471363 33471363 single base substitution G C upstream_gene_variant ESAD-UK 17 33474059 33474059 single base substitution G A upstream_gene_variant GBM-US 17 33463392 33463392 single base substitution A G 3_prime_UTR_variant GBM-US 17 33463392 33463392 single base substitution A G downstream_gene_variant GBM-US 17 33463392 33463392 single base substitution A G missense_variant L26P 77T>C GBM-US 17 33463392 33463392 single base substitution A G missense_variant L276P 827T>C GBM-US 17 33463392 33463392 single base substitution A G missense_variant L318P 953T>C GBM-US 17 33463392 33463392 single base substitution A G missense_variant L97P 290T>C KIRC-US 17 33463419 33463419 single base substitution G C 3_prime_UTR_variant KIRC-US 17 33463419 33463419 single base substitution G C downstream_gene_variant KIRC-US 17 33463419 33463419 single base substitution G C missense_variant A17G 50C>G KIRC-US 17 33463419 33463419 single base substitution G C missense_variant A267G 800C>G KIRC-US 17 33463419 33463419 single base substitution G C missense_variant A309G 926C>G KIRC-US 17 33463419 33463419 single base substitution G C missense_variant A88G 263C>G KIRC-US 17 33464021 33464021 single base substitution T G downstream_gene_variant KIRC-US 17 33464021 33464021 single base substitution T G missense_variant D234A 701A>C KIRC-US 17 33464021 33464021 single base substitution T G missense_variant D276A 827A>C KIRC-US 17 33464021 33464021 single base substitution T G missense_variant D55A 164A>C KIRC-US 17 33464021 33464021 single base substitution T G splice_region_variant KIRP-US 17 33464163 33464163 single base substitution G A 3_prime_UTR_variant KIRP-US 17 33464163 33464163 single base substitution G A 5_prime_UTR_variant KIRP-US 17 33464163 33464163 single base substitution G A exon_variant KIRP-US 17 33464163 33464163 single base substitution G A missense_variant R187W 559C>T KIRP-US 17 33464163 33464163 single base substitution G A missense_variant R229W 685C>T KIRP-US 17 33464163 33464163 single base substitution G A missense_variant R8W 22C>T LAML-CN 17 33462338 33462338 single base substitution G A downstream_gene_variant LAML-CN 17 33462338 33462338 single base substitution G A missense_variant P161S 481C>T LAML-CN 17 33462338 33462338 single base substitution G A missense_variant P340S 1018C>T LAML-CN 17 33462338 33462338 single base substitution G A missense_variant P382S 1144C>T LAML-CN 17 33462338 33462338 single base substitution G A missense_variant P90S 268C>T LAML-KR 17 33468592 33468592 single base substitution T G intron_variant LAML-KR 17 33468592 33468592 single base substitution T G upstream_gene_variant LGG-US 17 33464163 33464163 single base substitution G A 3_prime_UTR_variant LGG-US 17 33464163 33464163 single base substitution G A 5_prime_UTR_variant LGG-US 17 33464163 33464163 single base substitution G A exon_variant LGG-US 17 33464163 33464163 single base substitution G A missense_variant R187W 559C>T LGG-US 17 33464163 33464163 single base substitution G A missense_variant R229W 685C>T LGG-US 17 33464163 33464163 single base substitution G A missense_variant R8W 22C>T LICA-CN 17 33454072 33454072 single base substitution C A downstream_gene_variant LICA-FR 17 33466328 33466328 single base substitution A T 3_prime_UTR_variant LICA-FR 17 33466328 33466328 single base substitution A T 5_prime_UTR_variant LICA-FR 17 33466328 33466328 single base substitution A T exon_variant LICA-FR 17 33466328 33466328 single base substitution A T missense_variant L129Q 386T>A LICA-FR 17 33466328 33466328 single base substitution A T upstream_gene_variant LIHC-US 17 33462285 33462285 single base substitution C A downstream_gene_variant LIHC-US 17 33462285 33462285 single base substitution C A missense_variant W107C 321G>T LIHC-US 17 33462285 33462285 single base substitution C A missense_variant W178C 534G>T LIHC-US 17 33462285 33462285 single base substitution C A missense_variant W357C 1071G>T LIHC-US 17 33462285 33462285 single base substitution C A missense_variant W399C 1197G>T LIHC-US 17 33467033 33467033 single base substitution G A 5_prime_UTR_variant LIHC-US 17 33467033 33467033 single base substitution G A exon_variant LIHC-US 17 33467033 33467033 single base substitution G A intron_variant LIHC-US 17 33467033 33467033 single base substitution G A missense_variant S72L 215C>T LIHC-US 17 33467033 33467033 single base substitution G A upstream_gene_variant LINC-JP 17 33456251 33456251 single base substitution G C 3_prime_UTR_variant LINC-JP 17 33456251 33456251 single base substitution G C downstream_gene_variant LINC-JP 17 33467045 33467045 single base substitution T C 5_prime_UTR_variant LINC-JP 17 33467045 33467045 single base substitution T C exon_variant LINC-JP 17 33467045 33467045 single base substitution T C intron_variant LINC-JP 17 33467045 33467045 single base substitution T C missense_variant E68G 203A>G LINC-JP 17 33467045 33467045 single base substitution T C upstream_gene_variant LIRI-JP 17 33451581 33451581 single base substitution A G downstream_gene_variant LIRI-JP 17 33456378 33456378 deletion of <=200bp G - 3_prime_UTR_variant LIRI-JP 17 33456378 33456378 deletion of <=200bp G - downstream_gene_variant LIRI-JP 17 33456873 33456873 single base substitution T C 3_prime_UTR_variant LIRI-JP 17 33456873 33456873 single base substitution T C downstream_gene_variant LIRI-JP 17 33457562 33457562 single base substitution T C 3_prime_UTR_variant LIRI-JP 17 33457562 33457562 single base substitution T C downstream_gene_variant LIRI-JP 17 33461801 33461801 single base substitution C A downstream_gene_variant LIRI-JP 17 33461801 33461801 single base substitution C A intron_variant LIRI-JP 17 33465021 33465021 single base substitution T C intron_variant LIRI-JP 17 33465021 33465021 single base substitution T C upstream_gene_variant LIRI-JP 17 33465416 33465416 single base substitution C A intron_variant LIRI-JP 17 33465416 33465416 single base substitution C A upstream_gene_variant LIRI-JP 17 33468040 33468040 single base substitution A T intron_variant LIRI-JP 17 33468040 33468040 single base substitution A T upstream_gene_variant LIRI-JP 17 33468199 33468199 single base substitution G C intron_variant LIRI-JP 17 33468199 33468199 single base substitution G C upstream_gene_variant LIRI-JP 17 33470118 33470118 single base substitution G A upstream_gene_variant LIRI-JP 17 33470282 33470282 single base substitution T C upstream_gene_variant LIRI-JP 17 33470547 33470547 single base substitution C A upstream_gene_variant LIRI-JP 17 33472095 33472095 single base substitution C T upstream_gene_variant LIRI-JP 17 33472833 33472833 single base substitution A G upstream_gene_variant LIRI-JP 17 33473818 33473818 single base substitution A T upstream_gene_variant LUSC-KR 17 33451203 33451203 single base substitution G A downstream_gene_variant LUSC-KR 17 33452563 33452563 single base substitution G A downstream_gene_variant LUSC-KR 17 33460516 33460516 single base substitution A G downstream_gene_variant LUSC-KR 17 33460516 33460516 single base substitution A G missense_variant Y114H 340T>C LUSC-KR 17 33460516 33460516 single base substitution A G missense_variant Y224H 670T>C LUSC-KR 17 33460516 33460516 single base substitution A G missense_variant Y364H 1090T>C LUSC-KR 17 33460516 33460516 single base substitution A G missense_variant Y406H 1216T>C LUSC-KR 17 33462801 33462801 single base substitution A G downstream_gene_variant LUSC-KR 17 33462801 33462801 single base substitution A G intron_variant LUSC-KR 17 33463560 33463560 single base substitution C T downstream_gene_variant LUSC-KR 17 33463560 33463560 single base substitution C T intron_variant LUSC-KR 17 33464802 33464802 single base substitution T G intron_variant LUSC-KR 17 33464802 33464802 single base substitution T G upstream_gene_variant LUSC-KR 17 33467502 33467502 single base substitution C G intron_variant LUSC-KR 17 33467502 33467502 single base substitution C G upstream_gene_variant LUSC-US 17 33456482 33456482 single base substitution C T 3_prime_UTR_variant LUSC-US 17 33456482 33456482 single base substitution C T downstream_gene_variant LUSC-US 17 33463218 33463218 single base substitution C T downstream_gene_variant LUSC-US 17 33463218 33463218 single base substitution C T synonymous_variant E106E 318G>A LUSC-US 17 33463218 33463218 single base substitution C T synonymous_variant E285E 855G>A LUSC-US 17 33463218 33463218 single base substitution C T synonymous_variant E327E 981G>A LUSC-US 17 33463218 33463218 single base substitution C T synonymous_variant E35E 105G>A MALY-DE 17 33453544 33453544 single base substitution T G downstream_gene_variant MALY-DE 17 33463036 33463036 single base substitution T C downstream_gene_variant MALY-DE 17 33463036 33463036 single base substitution T C intron_variant MALY-DE 17 33473196 33473198 deletion of <=200bp AAC - upstream_gene_variant MELA-AU 17 33450903 33450903 single base substitution G A downstream_gene_variant MELA-AU 17 33451574 33451574 single base substitution A T downstream_gene_variant MELA-AU 17 33452054 33452054 single base substitution G A downstream_gene_variant MELA-AU 17 33452254 33452254 single base substitution C T downstream_gene_variant MELA-AU 17 33452384 33452385 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 33452897 33452897 single base substitution G A downstream_gene_variant MELA-AU 17 33453167 33453167 single base substitution C T downstream_gene_variant MELA-AU 17 33453422 33453422 single base substitution G A downstream_gene_variant MELA-AU 17 33453772 33453772 single base substitution G A downstream_gene_variant MELA-AU 17 33454025 33454025 single base substitution C T downstream_gene_variant MELA-AU 17 33454251 33454251 single base substitution G A downstream_gene_variant MELA-AU 17 33454560 33454560 single base substitution G A downstream_gene_variant MELA-AU 17 33455631 33455631 single base substitution G A downstream_gene_variant MELA-AU 17 33456886 33456886 single base substitution G A 3_prime_UTR_variant MELA-AU 17 33456886 33456886 single base substitution G A downstream_gene_variant MELA-AU 17 33457007 33457007 single base substitution G A 3_prime_UTR_variant MELA-AU 17 33457007 33457007 single base substitution G A downstream_gene_variant MELA-AU 17 33457183 33457183 single base substitution G A 3_prime_UTR_variant MELA-AU 17 33457183 33457183 single base substitution G A downstream_gene_variant MELA-AU 17 33457400 33457400 single base substitution G A 3_prime_UTR_variant MELA-AU 17 33457400 33457400 single base substitution G A downstream_gene_variant MELA-AU 17 33458400 33458400 single base substitution G A 3_prime_UTR_variant MELA-AU 17 33458400 33458400 single base substitution G A downstream_gene_variant MELA-AU 17 33459677 33459678 multiple base substitution (>=2bp and <=200bp) GG AT downstream_gene_variant MELA-AU 17 33459677 33459678 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 17 33460280 33460280 single base substitution G A downstream_gene_variant MELA-AU 17 33460280 33460280 single base substitution G A intron_variant MELA-AU 17 33461056 33461056 single base substitution G A downstream_gene_variant MELA-AU 17 33461056 33461056 single base substitution G A intron_variant MELA-AU 17 33461689 33461689 single base substitution G T downstream_gene_variant MELA-AU 17 33461689 33461689 single base substitution G T intron_variant MELA-AU 17 33461722 33461722 single base substitution A G downstream_gene_variant MELA-AU 17 33461722 33461722 single base substitution A G intron_variant MELA-AU 17 33462324 33462324 single base substitution G A downstream_gene_variant MELA-AU 17 33462324 33462324 single base substitution G A synonymous_variant I165I 495C>T MELA-AU 17 33462324 33462324 single base substitution G A synonymous_variant I344I 1032C>T MELA-AU 17 33462324 33462324 single base substitution G A synonymous_variant I386I 1158C>T MELA-AU 17 33462324 33462324 single base substitution G A synonymous_variant I94I 282C>T MELA-AU 17 33462411 33462411 single base substitution G A downstream_gene_variant MELA-AU 17 33462411 33462411 single base substitution G A synonymous_variant S136S 408C>T MELA-AU 17 33462411 33462411 single base substitution G A synonymous_variant S315S 945C>T MELA-AU 17 33462411 33462411 single base substitution G A synonymous_variant S357S 1071C>T MELA-AU 17 33462411 33462411 single base substitution G A synonymous_variant S65S 195C>T MELA-AU 17 33462523 33462523 single base substitution G A downstream_gene_variant MELA-AU 17 33462523 33462523 single base substitution G A intron_variant MELA-AU 17 33462826 33462826 single base substitution G A downstream_gene_variant MELA-AU 17 33462826 33462826 single base substitution G A intron_variant MELA-AU 17 33462827 33462827 single base substitution G A downstream_gene_variant MELA-AU 17 33462827 33462827 single base substitution G A intron_variant MELA-AU 17 33462899 33462899 single base substitution A T downstream_gene_variant MELA-AU 17 33462899 33462899 single base substitution A T intron_variant MELA-AU 17 33463720 33463720 single base substitution G A downstream_gene_variant MELA-AU 17 33463720 33463720 single base substitution G A intron_variant MELA-AU 17 33463814 33463815 multiple base substitution (>=2bp and <=200bp) GT AA downstream_gene_variant MELA-AU 17 33463814 33463815 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 17 33463981 33463981 single base substitution G A downstream_gene_variant MELA-AU 17 33463981 33463981 single base substitution G A intron_variant MELA-AU 17 33464188 33464188 single base substitution G A 3_prime_UTR_variant MELA-AU 17 33464188 33464188 single base substitution G A 5_prime_UTR_variant MELA-AU 17 33464188 33464188 single base substitution G A exon_variant MELA-AU 17 33464188 33464188 single base substitution G A synonymous_variant A178A 534C>T MELA-AU 17 33464188 33464188 single base substitution G A synonymous_variant A220A 660C>T MELA-AU 17 33464188 33464188 single base substitution G A upstream_gene_variant MELA-AU 17 33465780 33465780 single base substitution C G intron_variant MELA-AU 17 33465780 33465780 single base substitution C G upstream_gene_variant MELA-AU 17 33466037 33466037 single base substitution G A intron_variant MELA-AU 17 33466037 33466037 single base substitution G A upstream_gene_variant MELA-AU 17 33466339 33466339 single base substitution G A splice_region_variant MELA-AU 17 33466339 33466339 single base substitution G A upstream_gene_variant MELA-AU 17 33466586 33466586 single base substitution G T intron_variant MELA-AU 17 33466586 33466586 single base substitution G T upstream_gene_variant MELA-AU 17 33467054 33467054 single base substitution T A 5_prime_UTR_variant MELA-AU 17 33467054 33467054 single base substitution T A exon_variant MELA-AU 17 33467054 33467054 single base substitution T A intron_variant MELA-AU 17 33467054 33467054 single base substitution T A missense_variant H65L 194A>T MELA-AU 17 33467054 33467054 single base substitution T A upstream_gene_variant MELA-AU 17 33468484 33468484 single base substitution G A intron_variant MELA-AU 17 33468484 33468484 single base substitution G A upstream_gene_variant MELA-AU 17 33468626 33468626 single base substitution G A intron_variant MELA-AU 17 33468626 33468626 single base substitution G A upstream_gene_variant MELA-AU 17 33469377 33469377 single base substitution C T upstream_gene_variant MELA-AU 17 33469488 33469488 single base substitution C T upstream_gene_variant MELA-AU 17 33470158 33470159 multiple base substitution (>=2bp and <=200bp) GG AC upstream_gene_variant MELA-AU 17 33470331 33470331 single base substitution G A upstream_gene_variant MELA-AU 17 33470616 33470616 single base substitution C T upstream_gene_variant MELA-AU 17 33470620 33470620 single base substitution G A upstream_gene_variant MELA-AU 17 33470751 33470751 single base substitution G A upstream_gene_variant MELA-AU 17 33470955 33470955 single base substitution C G upstream_gene_variant MELA-AU 17 33471014 33471014 single base substitution C T upstream_gene_variant MELA-AU 17 33471203 33471203 single base substitution G A upstream_gene_variant MELA-AU 17 33471206 33471206 single base substitution G A upstream_gene_variant MELA-AU 17 33471476 33471476 single base substitution G A upstream_gene_variant MELA-AU 17 33471980 33471980 single base substitution G A upstream_gene_variant MELA-AU 17 33472062 33472062 single base substitution C T upstream_gene_variant MELA-AU 17 33472851 33472851 single base substitution C T upstream_gene_variant MELA-AU 17 33473127 33473127 single base substitution G A upstream_gene_variant MELA-AU 17 33473149 33473149 single base substitution C T upstream_gene_variant MELA-AU 17 33473405 33473405 single base substitution G A upstream_gene_variant MELA-AU 17 33473532 33473532 single base substitution C T upstream_gene_variant MELA-AU 17 33473560 33473560 single base substitution C T upstream_gene_variant MELA-AU 17 33473706 33473706 single base substitution C T upstream_gene_variant MELA-AU 17 33474003 33474003 single base substitution G A upstream_gene_variant MELA-AU 17 33474035 33474035 single base substitution C T upstream_gene_variant MELA-AU 17 33474054 33474054 single base substitution G A upstream_gene_variant MELA-AU 17 33474220 33474220 single base substitution G A upstream_gene_variant MELA-AU 17 33474229 33474229 single base substitution G A upstream_gene_variant ORCA-IN 17 33464882 33464882 single base substitution G A 3_prime_UTR_variant ORCA-IN 17 33464882 33464882 single base substitution G A 5_prime_UTR_variant ORCA-IN 17 33464882 33464882 single base substitution G A exon_variant ORCA-IN 17 33464882 33464882 single base substitution G A intron_variant ORCA-IN 17 33464882 33464882 single base substitution G A missense_variant S163F 488C>T ORCA-IN 17 33464882 33464882 single base substitution G A upstream_gene_variant OV-AU 17 33450911 33450911 single base substitution T A downstream_gene_variant OV-AU 17 33453756 33453756 single base substitution G C downstream_gene_variant OV-AU 17 33460830 33460830 single base substitution C T downstream_gene_variant OV-AU 17 33460830 33460830 single base substitution C T intron_variant OV-AU 17 33465548 33465548 single base substitution C T intron_variant OV-AU 17 33465548 33465548 single base substitution C T upstream_gene_variant OV-AU 17 33472827 33472827 single base substitution G C upstream_gene_variant OV-US 17 33457378 33457378 single base substitution C T 3_prime_UTR_variant OV-US 17 33457378 33457378 single base substitution C T downstream_gene_variant PACA-AU 17 33451338 33451338 single base substitution A T downstream_gene_variant PACA-AU 17 33454729 33454729 single base substitution T C downstream_gene_variant PACA-AU 17 33456066 33456066 single base substitution G A 3_prime_UTR_variant PACA-AU 17 33456066 33456066 single base substitution G A downstream_gene_variant PACA-AU 17 33456319 33456319 single base substitution C T 3_prime_UTR_variant PACA-AU 17 33456319 33456319 single base substitution C T downstream_gene_variant PACA-AU 17 33457989 33457989 single base substitution C T 3_prime_UTR_variant PACA-AU 17 33457989 33457989 single base substitution C T downstream_gene_variant PACA-AU 17 33460905 33460905 single base substitution C A downstream_gene_variant PACA-AU 17 33460905 33460905 single base substitution C A intron_variant PACA-AU 17 33466393 33466393 single base substitution C T intron_variant PACA-AU 17 33466393 33466393 single base substitution C T upstream_gene_variant PACA-AU 17 33469014 33469014 single base substitution T C 5_prime_UTR_variant PACA-AU 17 33469014 33469014 single base substitution T C exon_variant PACA-AU 17 33469014 33469014 single base substitution T C missense_variant N49S 146A>G PACA-AU 17 33469014 33469014 single base substitution T C upstream_gene_variant PACA-AU 17 33470037 33470037 single base substitution A G upstream_gene_variant PACA-AU 17 33473017 33473017 single base substitution A G upstream_gene_variant PACA-CA 17 33457239 33457242 deletion of <=200bp AGAG - 3_prime_UTR_variant PACA-CA 17 33457239 33457242 deletion of <=200bp AGAG - downstream_gene_variant PACA-CA 17 33463665 33463665 single base substitution C G downstream_gene_variant PACA-CA 17 33463665 33463665 single base substitution C G intron_variant PACA-CA 17 33472805 33472805 single base substitution A G upstream_gene_variant PAEN-AU 17 33470183 33470186 deletion of <=200bp AATA - upstream_gene_variant PBCA-DE 17 33453097 33453097 single base substitution G A downstream_gene_variant PBCA-DE 17 33466024 33466024 single base substitution C T intron_variant PBCA-DE 17 33466024 33466024 single base substitution C T upstream_gene_variant PBCA-DE 17 33467040 33467040 single base substitution C T 5_prime_UTR_variant PBCA-DE 17 33467040 33467040 single base substitution C T exon_variant PBCA-DE 17 33467040 33467040 single base substitution C T intron_variant PBCA-DE 17 33467040 33467040 single base substitution C T missense_variant V70I 208G>A PBCA-DE 17 33467040 33467040 single base substitution C T upstream_gene_variant PRAD-UK 17 33453665 33453665 single base substitution G T downstream_gene_variant PRAD-UK 17 33458796 33458796 single base substitution G T 3_prime_UTR_variant PRAD-UK 17 33458796 33458796 single base substitution G T downstream_gene_variant PRAD-UK 17 33460389 33460389 deletion of <=200bp A - downstream_gene_variant PRAD-UK 17 33460389 33460389 deletion of <=200bp A - frameshift_variant L156 PRAD-UK 17 33460389 33460389 deletion of <=200bp A - frameshift_variant L266 PRAD-UK 17 33460389 33460389 deletion of <=200bp A - frameshift_variant L406 PRAD-UK 17 33460389 33460389 deletion of <=200bp A - frameshift_variant L448 PRAD-UK 17 33461363 33461363 single base substitution C A downstream_gene_variant PRAD-UK 17 33461363 33461363 single base substitution C A intron_variant PRAD-US 17 33462276 33462276 single base substitution C T downstream_gene_variant PRAD-US 17 33462276 33462276 single base substitution C T synonymous_variant R110R 330G>A PRAD-US 17 33462276 33462276 single base substitution C T synonymous_variant R181R 543G>A PRAD-US 17 33462276 33462276 single base substitution C T synonymous_variant R360R 1080G>A PRAD-US 17 33462276 33462276 single base substitution C T synonymous_variant R402R 1206G>A READ-US 17 33454242 33454242 single base substitution G A downstream_gene_variant READ-US 17 33456551 33456551 single base substitution A C 3_prime_UTR_variant READ-US 17 33456551 33456551 single base substitution A C downstream_gene_variant RECA-EU 17 33453517 33453517 single base substitution T A downstream_gene_variant RECA-EU 17 33457382 33457382 single base substitution C T 3_prime_UTR_variant RECA-EU 17 33457382 33457382 single base substitution C T downstream_gene_variant RECA-EU 17 33457732 33457732 single base substitution G C 3_prime_UTR_variant RECA-EU 17 33457732 33457732 single base substitution G C downstream_gene_variant RECA-EU 17 33458088 33458088 single base substitution A T 3_prime_UTR_variant RECA-EU 17 33458088 33458088 single base substitution A T downstream_gene_variant RECA-EU 17 33463884 33463884 single base substitution A T downstream_gene_variant RECA-EU 17 33463884 33463884 single base substitution A T intron_variant SKCA-BR 17 33452699 33452699 single base substitution T A downstream_gene_variant SKCA-BR 17 33453516 33453516 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 17 33453517 33453517 single base substitution T A downstream_gene_variant SKCA-BR 17 33453671 33453671 single base substitution A G downstream_gene_variant SKCA-BR 17 33454944 33454944 single base substitution G A downstream_gene_variant SKCA-BR 17 33457616 33457616 single base substitution G A 3_prime_UTR_variant SKCA-BR 17 33457616 33457616 single base substitution G A downstream_gene_variant SKCA-BR 17 33457617 33457617 single base substitution G A 3_prime_UTR_variant SKCA-BR 17 33457617 33457617 single base substitution G A downstream_gene_variant SKCA-BR 17 33459283 33459283 single base substitution A G 3_prime_UTR_variant SKCA-BR 17 33459283 33459283 single base substitution A G downstream_gene_variant SKCA-BR 17 33463006 33463006 single base substitution G A downstream_gene_variant SKCA-BR 17 33463006 33463006 single base substitution G A intron_variant SKCA-BR 17 33468592 33468592 single base substitution T A intron_variant SKCA-BR 17 33468592 33468592 single base substitution T A upstream_gene_variant SKCA-BR 17 33469540 33469540 single base substitution C T upstream_gene_variant SKCA-BR 17 33469995 33469995 single base substitution A G upstream_gene_variant SKCA-BR 17 33471797 33471797 single base substitution G A upstream_gene_variant SKCA-BR 17 33472395 33472395 single base substitution A C upstream_gene_variant SKCA-BR 17 33473972 33473972 single base substitution C T upstream_gene_variant SKCA-BR 17 33474063 33474063 single base substitution G A upstream_gene_variant SKCM-US 17 33454248 33454248 single base substitution G A downstream_gene_variant SKCM-US 17 33454271 33454271 deletion of <=200bp C - downstream_gene_variant SKCM-US 17 33456448 33456448 single base substitution G A 3_prime_UTR_variant SKCM-US 17 33456448 33456448 single base substitution G A downstream_gene_variant SKCM-US 17 33457354 33457354 single base substitution G A 3_prime_UTR_variant SKCM-US 17 33457354 33457354 single base substitution G A downstream_gene_variant SKCM-US 17 33457401 33457401 single base substitution G A 3_prime_UTR_variant SKCM-US 17 33457401 33457401 single base substitution G A downstream_gene_variant SKCM-US 17 33464057 33464057 single base substitution G A 3_prime_UTR_variant SKCM-US 17 33464057 33464057 single base substitution G A 5_prime_UTR_variant SKCM-US 17 33464057 33464057 single base substitution G A downstream_gene_variant SKCM-US 17 33464057 33464057 single base substitution G A exon_variant SKCM-US 17 33464057 33464057 single base substitution G A missense_variant S222F 665C>T SKCM-US 17 33464057 33464057 single base substitution G A missense_variant S264F 791C>T SKCM-US 17 33464057 33464057 single base substitution G A missense_variant S43F 128C>T SKCM-US 17 33464139 33464139 single base substitution G A 3_prime_UTR_variant SKCM-US 17 33464139 33464139 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 17 33464139 33464139 single base substitution G A exon_variant SKCM-US 17 33464139 33464139 single base substitution G A missense_variant R16C 46C>T SKCM-US 17 33464139 33464139 single base substitution G A missense_variant R195C 583C>T SKCM-US 17 33464139 33464139 single base substitution G A missense_variant R237C 709C>T SKCM-US 17 33464654 33464654 single base substitution G A 3_prime_UTR_variant SKCM-US 17 33464654 33464654 single base substitution G A 5_prime_UTR_variant SKCM-US 17 33464654 33464654 single base substitution G A intron_variant SKCM-US 17 33464654 33464654 single base substitution G A synonymous_variant L139L 417C>T SKCM-US 17 33464654 33464654 single base substitution G A synonymous_variant L181L 543C>T SKCM-US 17 33464654 33464654 single base substitution G A upstream_gene_variant SKCM-US 17 33466921 33466921 single base substitution G A 5_prime_UTR_variant SKCM-US 17 33466921 33466921 single base substitution G A exon_variant SKCM-US 17 33466921 33466921 single base substitution G A intron_variant SKCM-US 17 33466921 33466921 single base substitution G A synonymous_variant S109S 327C>T SKCM-US 17 33466921 33466921 single base substitution G A upstream_gene_variant SKCM-US 17 33466948 33466948 single base substitution G T 5_prime_UTR_variant SKCM-US 17 33466948 33466948 single base substitution G T exon_variant SKCM-US 17 33466948 33466948 single base substitution G T intron_variant SKCM-US 17 33466948 33466948 single base substitution G T synonymous_variant V100V 300C>A SKCM-US 17 33466948 33466948 single base substitution G T upstream_gene_variant SKCM-US 17 33469070 33469070 single base substitution A G 5_prime_UTR_variant SKCM-US 17 33469070 33469070 single base substitution A G exon_variant SKCM-US 17 33469070 33469070 single base substitution A G synonymous_variant G30G 90T>C SKCM-US 17 33469070 33469070 single base substitution A G upstream_gene_variant STAD-US 17 33454302 33454302 single base substitution A G downstream_gene_variant STAD-US 17 33460365 33460365 single base substitution G A downstream_gene_variant STAD-US 17 33460365 33460365 single base substitution G A missense_variant A164V 491C>T STAD-US 17 33460365 33460365 single base substitution G A missense_variant A274V 821C>T STAD-US 17 33460365 33460365 single base substitution G A missense_variant A414V 1241C>T STAD-US 17 33460365 33460365 single base substitution G A missense_variant A456V 1367C>T STAD-US 17 33460484 33460484 single base substitution G A downstream_gene_variant STAD-US 17 33460484 33460484 single base substitution G A synonymous_variant A124A 372C>T STAD-US 17 33460484 33460484 single base substitution G A synonymous_variant A234A 702C>T STAD-US 17 33460484 33460484 single base substitution G A synonymous_variant A374A 1122C>T STAD-US 17 33460484 33460484 single base substitution G A synonymous_variant A416A 1248C>T STAD-US 17 33464035 33464035 single base substitution G A 3_prime_UTR_variant STAD-US 17 33464035 33464035 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant STAD-US 17 33464035 33464035 single base substitution G A downstream_gene_variant STAD-US 17 33464035 33464035 single base substitution G A synonymous_variant V229V 687C>T STAD-US 17 33464035 33464035 single base substitution G A synonymous_variant V271V 813C>T STAD-US 17 33464035 33464035 single base substitution G A synonymous_variant V50V 150C>T STAD-US 17 33464048 33464048 single base substitution C T 3_prime_UTR_variant STAD-US 17 33464048 33464048 single base substitution C T 5_prime_UTR_variant STAD-US 17 33464048 33464048 single base substitution C T downstream_gene_variant STAD-US 17 33464048 33464048 single base substitution C T exon_variant STAD-US 17 33464048 33464048 single base substitution C T missense_variant R225H 674G>A STAD-US 17 33464048 33464048 single base substitution C T missense_variant R267H 800G>A STAD-US 17 33464048 33464048 single base substitution C T missense_variant R46H 137G>A STAD-US 17 33464132 33464132 single base substitution T A 3_prime_UTR_variant STAD-US 17 33464132 33464132 single base substitution T A 5_prime_UTR_variant STAD-US 17 33464132 33464132 single base substitution T A exon_variant STAD-US 17 33464132 33464132 single base substitution T A missense_variant E18V 53A>T STAD-US 17 33464132 33464132 single base substitution T A missense_variant E197V 590A>T STAD-US 17 33464132 33464132 single base substitution T A missense_variant E239V 716A>T STAD-US 17 33467011 33467011 single base substitution G T 5_prime_UTR_variant STAD-US 17 33467011 33467011 single base substitution G T exon_variant STAD-US 17 33467011 33467011 single base substitution G T intron_variant STAD-US 17 33467011 33467011 single base substitution G T synonymous_variant S79S 237C>A STAD-US 17 33467011 33467011 single base substitution G T upstream_gene_variant UCEC-US 17 33454269 33454274 deletion of <=200bp TGCCCA - downstream_gene_variant UCEC-US 17 33454349 33454349 single base substitution C A downstream_gene_variant UCEC-US 17 33454424 33454424 single base substitution T G downstream_gene_variant UCEC-US 17 33456542 33456542 single base substitution G T 3_prime_UTR_variant UCEC-US 17 33456542 33456542 single base substitution G T downstream_gene_variant UCEC-US 17 33463460 33463460 single base substitution G T 3_prime_UTR_variant UCEC-US 17 33463460 33463460 single base substitution G T downstream_gene_variant UCEC-US 17 33463460 33463460 single base substitution G T synonymous_variant L253L 759C>A UCEC-US 17 33463460 33463460 single base substitution G T synonymous_variant L295L 885C>A UCEC-US 17 33463460 33463460 single base substitution G T synonymous_variant L3L 9C>A UCEC-US 17 33463460 33463460 single base substitution G T synonymous_variant L74L 222C>A UCEC-US 17 33463486 33463486 single base substitution C T 3_prime_UTR_variant UCEC-US 17 33463486 33463486 single base substitution C T 5_prime_UTR_variant UCEC-US 17 33463486 33463486 single base substitution C T downstream_gene_variant UCEC-US 17 33463486 33463486 single base substitution C T missense_variant G245S 733G>A UCEC-US 17 33463486 33463486 single base substitution C T missense_variant G287S 859G>A UCEC-US 17 33463486 33463486 single base substitution C T missense_variant G66S 196G>A UCEC-US 17 33464163 33464163 single base substitution G A 3_prime_UTR_variant UCEC-US 17 33464163 33464163 single base substitution G A 5_prime_UTR_variant UCEC-US 17 33464163 33464163 single base substitution G A exon_variant UCEC-US 17 33464163 33464163 single base substitution G A missense_variant R187W 559C>T UCEC-US 17 33464163 33464163 single base substitution G A missense_variant R229W 685C>T UCEC-US 17 33464163 33464163 single base substitution G A missense_variant R8W 22C>T UCEC-US 17 33464601 33464601 single base substitution C A 3_prime_UTR_variant UCEC-US 17 33464601 33464601 single base substitution C A 5_prime_UTR_variant UCEC-US 17 33464601 33464601 single base substitution C A intron_variant UCEC-US 17 33464601 33464601 single base substitution C A missense_variant S157I 470G>T UCEC-US 17 33464601 33464601 single base substitution C A missense_variant S199I 596G>T UCEC-US 17 33464601 33464601 single base substitution C A upstream_gene_variant UCEC-US 17 33464889 33464889 single base substitution T C 3_prime_UTR_variant UCEC-US 17 33464889 33464889 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 17 33464889 33464889 single base substitution T C exon_variant UCEC-US 17 33464889 33464889 single base substitution T C intron_variant UCEC-US 17 33464889 33464889 single base substitution T C missense_variant S161G 481A>G UCEC-US 17 33464889 33464889 single base substitution T C upstream_gene_variant UCEC-US 17 33466306 33466306 single base substitution G A 3_prime_UTR_variant UCEC-US 17 33466306 33466306 single base substitution G A 5_prime_UTR_variant UCEC-US 17 33466306 33466306 single base substitution G A exon_variant UCEC-US 17 33466306 33466306 single base substitution G A synonymous_variant T136T 408C>T UCEC-US 17 33466306 33466306 single base substitution G A upstream_gene_variant UCEC-US 17 33466960 33466960 single base substitution A G 5_prime_UTR_variant UCEC-US 17 33466960 33466960 single base substitution A G exon_variant UCEC-US 17 33466960 33466960 single base substitution A G intron_variant UCEC-US 17 33466960 33466960 single base substitution A G synonymous_variant A96A 288T>C UCEC-US 17 33466960 33466960 single base substitution A G upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand pfg068T COSM4752423 c.301C>T p.R101W Substitution - Missense 17:35139928-35139928 - TCGA-B5-A0JR-01 COSM977825 c.1089G>A p.K363K Substitution - coding silent 17:35135374-35135374 - HCC2998 COSM3181289 c.207C>T p.I69I Substitution - coding silent 17:35140022-35140022 - D8 COSM5007569 c.603G>A p.W201* Substitution - Nonsense 17:35137575-35137575 - TCGA-DM-A28F-01 COSM1382410 c.1290C>G p.V430V Substitution - coding silent 17:35133423-35133423 - LUAD-D02185 COSM338552 c.1280G>A p.R427Q Substitution - Missense 17:35133433-35133433 - PD8995a COSM4065532 c.1367C>T p.A456V Substitution - Missense 17:35133346-35133346 - PD24308a COSM5784814 c.1216T>C p.Y406H Substitution - Missense 17:35133497-35133497 - TCGA-UB-A7MB-01 COSM4932360 c.1197G>T p.W399C Substitution - Missense 17:35135266-35135266 - TCGA-A6-6653-01 COSM1382416 c.718C>T p.R240C Substitution - Missense 17:35137111-35137111 - TCGA-A4-7585-01 COSM977831 c.685C>T p.R229W Substitution - Missense 17:35137144-35137144 - LUAD-B02077 COSM335054 c.593A>T p.H198L Substitution - Missense 17:35137585-35137585 - 3N25-VS-3T25 COSM4979949 c.1399G>A p.D467N Substitution - Missense 17:35133217-35133217 - 587316 COSM977831 c.685C>T p.R229W Substitution - Missense 17:35137144-35137144 - TCGA-DI-A0WH-01 COSM977840 c.288T>C p.A96A Substitution - coding silent 17:35139941-35139941 - Pat_11_A COSM5852234 c.1382C>T p.A461V Substitution - Missense 17:35133234-35133234 - TCGA-A8-A08L-01 COSM436388 c.919G>C p.E307Q Substitution - Missense 17:35136407-35136407 - TCGA-B0-4694-01 COSM3362080 c.926C>G p.A309G Substitution - Missense 17:35136400-35136400 - PTC-7C COSM4129843 c.195C>T p.H65H Substitution - coding silent 17:35140034-35140034 - BN33 COSM1610083 c.203A>G p.E68G Substitution - Missense 17:35140026-35140026 - TCGA-AM-5820-01 COSM3691490 c.1154G>A p.R385H Substitution - Missense 17:35135309-35135309 - B50 COSM1749963 c.122C>A p.P41Q Substitution - Missense 17:35142019-35142019 - BD114T COSM5504286 c.1162G>A p.A388T Substitution - Missense 17:35135301-35135301 - TCGA-BS-A0UM-01 COSM977827 c.885C>A p.L295L Substitution - coding silent 17:35136441-35136441 - CACO2 COSM3181276 c.783C>G p.Y261* Substitution - Nonsense 17:35137046-35137046 - TCGA-AY-6386-01 COSM3755395 c.16C>G p.P6A Substitution - Missense 17:35142260-35142260 - TCGA-BR-8590-01 COSM4065533 c.813C>T p.V271V Substitution - coding silent 17:35137016-35137016 - HCC1599 COSM25313 c.829-1G>C p.? Unknown 17:35136498-35136498 - TCGA-AP-A0LM-01 COSM977833 c.596G>T p.S199I Substitution - Missense 17:35137582-35137582 - TCGA-PD-A5DF-01 COSM4909784 c.215C>T p.S72L Substitution - Missense 17:35140014-35140014 - TCGA-FS-A1Z7-06 COSM3516178 c.300C>A p.V100V Substitution - coding silent 17:35139929-35139929 - TCGA-G4-6302-01 COSM3691489 c.1212C>T p.G404G Substitution - coding silent 17:35135251-35135251 - B114-Tumor COSM3932541 c.1389C>T p.D463D Substitution - coding silent 17:35133227-35133227 - TCGA-G4-6588-01 COSM1382414 c.771C>G p.D257E Substitution - Missense 17:35137058-35137058 - CSCC-60-T COSM4508967 c.792C>T p.S264S Substitution - coding silent 17:35137037-35137037 - TCGA-FG-7637-01 COSM977831 c.685C>T p.R229W Substitution - Missense 17:35137144-35137144 - DLD1 COSM4623527 c.789C>A p.A263A Substitution - coding silent 17:35137040-35137040 - 0041_CRUK_PC_0041_T1_DNA COSM5422651 c.1343delT p.L448fs*>38 Deletion - Frameshift 17:35133370-35133370 - 1517_PT COSM5755009 c.197A>T p.D66V Substitution - Missense 17:35140032-35140032 - TCGA-AA-3977-01 COSM297599 c.356C>A p.S119Y Substitution - Missense 17:35139873-35139873 - TCGA-B8-5158-01 COSM472580 c.827A>C p.D276A Substitution - Missense 17:35137002-35137002 - TCGA-CG-5721-01 COSM4065535 c.237C>A p.S79S Substitution - coding silent 17:35139992-35139992 - 53M COSM5594977 c.1005C>T p.L335L Substitution - coding silent 17:35136175-35136175 - TCGA-18-3411-01 COSM705529 c.981G>A p.E327E Substitution - coding silent 17:35136199-35136199 - TCGA-BR-8372-01 COSM3181267 c.1248C>T p.A416A Substitution - coding silent 17:35133465-35133465 - TCGA-FD-A3SO-01 COSM3795471 c.873C>T p.N291N Substitution - coding silent 17:35136453-35136453 - T3152 COSM4707106 c.1021C>T p.P341S Substitution - Missense 17:35135442-35135442 - KM12 COSM1679719 c.1442G>A p.R481Q Substitution - Missense 17:35133174-35133174 - CSCC-11-T COSM4568413 c.1138T>A p.F380I Substitution - Missense 17:35135325-35135325 - HCC1599 COSM25313 c.829-1G>C p.? Unknown 17:35136498-35136498 - DLD1 COSM4623526 c.1053C>T p.F351F Substitution - coding silent 17:35135410-35135410 - TCGA-BH-A0BM-01 COSM3819316 c.969G>A p.Q323Q Substitution - coding silent 17:35136211-35136211 - BD72T COSM5513294 c.760T>C p.W254R Substitution - Missense 17:35137069-35137069 - CSCC-6-T COSM4508577 c.780C>T p.L260L Substitution - coding silent 17:35137049-35137049 - TCGA-CH-5748-01 COSM1128759 c.1206G>A p.R402R Substitution - coding silent 17:35135257-35135257 - TCGA-GN-A269-01 COSM3516175 c.791C>T p.S264F Substitution - Missense 17:35137038-35137038 - HT115 COSM4638203 c.168T>C p.D56D Substitution - coding silent 17:35140061-35140061 - PD9702a COSM5772608 c.671A>G p.K224R Substitution - Missense 17:35137158-35137158 - ME018T COSM225386 c.326C>T p.S109F Substitution - Missense 17:35139903-35139903 - TCGA-AM-5820-01 COSM3691491 c.986C>T p.A329V Substitution - Missense 17:35136194-35136194 - TCGA-AP-A051-01 COSM977829 c.859G>A p.G287S Substitution - Missense 17:35136467-35136467 - TCGA-AY-6197-01 COSM3691488 c.1233C>T p.R411R Substitution - coding silent 17:35133480-35133480 - 136-02-3TD COSM145676 c.1034T>G p.V345G Substitution - Missense 17:35135429-35135429 - CSCC-31-T COSM4550732 c.507G>A p.R169R Substitution - coding silent 17:35137844-35137844 - TCGA-D5-6537-01 COSM3755395 c.16C>G p.P6A Substitution - Missense 17:35142260-35142260 - TCGA-EB-A44N-01 COSM3516179 c.90T>C p.G30G Substitution - coding silent 17:35142051-35142051 - S00035 COSM5656719 c.964+1G>C p.? Unknown 17:35136361-35136361 - Pat_41_B COSM3712232 c.488C>T p.S163F Substitution - Missense 17:35137863-35137863 - CML022T COSM5803112 c.1144C>T p.P382S Substitution - Missense 17:35135319-35135319 - 2246936 COSM4413501 c.710G>T p.R237L Substitution - Missense 17:35137119-35137119 - TCGA-EE-A29D-06 COSM3516176 c.543C>T p.L181L Substitution - coding silent 17:35137635-35137635 - T3049 COSM4707107 c.822T>C p.A274A Substitution - coding silent 17:35137007-35137007 - 136 COSM145676 c.1034T>G p.V345G Substitution - Missense 17:35135429-35135429 - TCGA-A5-A0VP-01 COSM977831 c.685C>T p.R229W Substitution - Missense 17:35137144-35137144 - TCGA-G4-6628-01 COSM1382415 c.729C>T p.T243T Substitution - coding silent 17:35137100-35137100 - BN33T COSM1610083 c.203A>G p.E68G Substitution - Missense 17:35140026-35140026 - TCGA-C5-A1ME-01 COSM4820631 c.196G>A p.D66N Substitution - Missense 17:35140033-35140033 - TCGA-24-2267-01 COSM71841 c.1266G>T p.W422C Substitution - Missense 17:35133447-35133447 - MedB-1 COSM5621386 c.1208C>T p.T403M Substitution - Missense 17:35135255-35135255 - TCGA-AA-3662-01 COSM3755395 c.16C>G p.P6A Substitution - Missense 17:35142260-35142260 - S02139 COSM5674225 c.527A>T p.K176M Substitution - Missense 17:35137824-35137824 - 2_RESISTANT COSM1723196 c.79C>A p.Q27K Substitution - Missense 17:35142062-35142062 - 038T COSM1728741 c.985G>C p.A329P Substitution - Missense 17:35136195-35136195 - BB5T COSM33457 c.955C>A p.Q319K Substitution - Missense 17:35136371-35136371 - TCGA-26-6173-01 COSM3402775 c.953T>C p.L318P Substitution - Missense 17:35136373-35136373 - TCGA-AA-3713-01 COSM1382412 c.1263G>A p.A421A Substitution - coding silent 17:35133450-35133450 - T3174 COSM4707108 c.460G>T p.G154* Substitution - Nonsense 17:35139235-35139235 - CHC703T COSM4957389 c.386T>A p.L129Q Substitution - Missense 17:35139309-35139309 - LIM2405 COSM4642097 c.534C>T p.G178G Substitution - coding silent 17:35137817-35137817 - SS6003111 COSM5033081 c.952C>G p.L318V Substitution - Missense 17:35136374-35136374 - PD8612a COSM5785696 c.1215-1G>A p.? Unknown 17:35133499-35133499 - NB2181 COSM5703184 c.1327G>A p.V443M Substitution - Missense 17:35133386-35133386 - STC246 COSM5055383 c.1209G>A p.T403T Substitution - coding silent 17:35135254-35135254 - LIM2405 COSM267029 c.905G>A p.R302H Substitution - Missense 17:35136421-35136421 - TCGA-AA-3712-01 COSM3755395 c.16C>G p.P6A Substitution - Missense 17:35142260-35142260 - TCGA-EE-A2GC-06 COSM3181279 c.709C>T p.R237C Substitution - Missense 17:35137120-35137120 - 45T COSM3712232 c.488C>T p.S163F Substitution - Missense 17:35137863-35137863 - TCGA-AX-A06H-01 COSM977823 c.1239C>T p.H413H Substitution - coding silent 17:35133474-35133474 - CSCC-27-T COSM4463275 c.1284C>T p.L428L Substitution - coding silent 17:35133429-35133429 - T368 COSM176831 c.1366G>A p.A456T Substitution - Missense 17:35133347-35133347 - KM12 COSM1679719 c.1442G>A p.R481Q Substitution - Missense 17:35133174-35133174 - CHC703T COSM4957389 c.386T>A p.L129Q Substitution - Missense 17:35139309-35139309 - TCGA-AA-3672-01 COSM267029 c.905G>A p.R302H Substitution - Missense 17:35136421-35136421 - OSCC-GB_00450111 COSM3712232 c.488C>T p.S163F Substitution - Missense 17:35137863-35137863 - TCGA-CG-4306-01 COSM3181275 c.800G>A p.R267H Substitution - Missense 17:35137029-35137029 - TCGA-CD-A4MG-01 COSM4065532 c.1367C>T p.A456V Substitution - Missense 17:35133346-35133346 - TCGA-G4-6321-01 COSM3755395 c.16C>G p.P6A Substitution - Missense 17:35142260-35142260 - PTC-7C COSM3755395 c.16C>G p.P6A Substitution - Missense 17:35142260-35142260 - TCGA-BR-6454-01 COSM4065534 c.716A>T p.E239V Substitution - Missense 17:35137113-35137113 - 8012321 COSM3387797 c.146A>G p.N49S Substitution - Missense 17:35141995-35141995 - TCGA-AP-A0LI-01 COSM977838 c.408C>T p.T136T Substitution - coding silent 17:35139287-35139287 - TCGA-B5-A11G-01 COSM977836 c.481A>G p.S161G Substitution - Missense 17:35137870-35137870 - STC291 COSM5055384 c.347C>G p.A116G Substitution - Missense 17:35139882-35139882 - MDA-Pca-2B COSM33457 c.955C>A p.Q319K Substitution - Missense 17:35136371-35136371 - DN11135 COSM4065532 c.1367C>T p.A456V Substitution - Missense 17:35133346-35133346 - TCGA-D3-A5GO-06 COSM3516177 c.327C>T p.S109S Substitution - coding silent 17:35139902-35139902 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.85570 17q12 2419838|CGAP|BC012075|A/G|coding|Lys169Arg|518|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.L318P c.953T>C 17 33463392 GBM A G Synonymous p.A96A c.288T>C 17 33466960 UCEC C A Missense p.V336L c.1006G>T 17 33463193 LUAD C A Missense p.W422C c.1266G>T 17 33460466 OV C A Missense p.W464L c.1391G>T 17 33460244 CM C G Missense p.E307Q c.919G>C 17 33463426 BRCA C G SpliceAcceptorSNV . c.1012-1G>C 17 33462471 LUAD C T Missense p.R267H c.800G>A 17 33464048 STAD C T Missense p.R302H c.905G>A 17 33463440 LUAD C T Missense p.S331N c.992G>A 17 33463207 LUAD C T Synonymous p.E327E c.981G>A 17 33463218 LUSC C T Synonymous p.L110L c.330G>A 17 33466918 CM C T Synonymous p.R402R c.1206G>A 17 33462276 PRAD G A 3-UTRSNV . c.1455+209C>T 17 33459250 PIA G A Missense p.H211Y c.631C>T 17 33464566 CM G A Missense p.P358S c.1072C>T 17 33462410 CM G A Missense p.R229W c.685C>T 17 33464163 LGG G A Missense p.R229W c.685C>T 17 33464163 UCEC G A Missense p.R237C c.709C>T 17 33464139 CM G A Missense p.S109F c.326C>T 17 33466922 CM G A Missense p.S264F c.791C>T 17 33464057 CM G A Synonymous p.L28L c.82C>T 17 33469078 HNSC G A Synonymous p.T136T c.408C>T 17 33466306 UCEC G C Missense p.A309G c.926C>G 17 33463419 RCCC G C Synonymous p.L480L c.1440C>G 17 33460195 LUAD G T Synonymous p.L295L c.885C>A 17 33463460 UCEC G T Synonymous p.V100V c.300C>A 17 33466948 CM T A Missense p.E239V c.716A>T 17 33464132 STAD T C Missense p.S161G c.481A>G 17 33464889 UCEC T G Missense p.D276A c.827A>C 17 33464021 RCCC