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 7 122341899 122341899 + Silent SNP G G A TCGA-DK-AA6L-01A-11D-A391-08 TCGA-DK-AA6L-10A-01D-A394-08 g.chr7:122341899G>A c.906C>T c.(904-906)atC>atT p.I302I BLCA 7 122341991 122341991 + Missense_Mutation SNP G G A TCGA-YC-A8S6-01A-31D-A38G-08 TCGA-YC-A8S6-10A-01D-A38J-08 g.chr7:122341991G>A c.814C>T c.(814-816)Cgc>Tgc p.R272C BLCA 7 122342073 122342073 + Silent SNP G G C TCGA-DK-AA6L-01A-11D-A391-08 TCGA-DK-AA6L-10A-01D-A394-08 g.chr7:122342073G>C c.732C>G c.(730-732)ctC>ctG p.L244L BLCA 7 122342214 122342214 + Silent SNP G G A TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr7:122342214G>A c.591C>T c.(589-591)ttC>ttT p.F197F BLCA 7 122342732 122342732 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr7:122342732G>C c.73C>G c.(73-75)Cta>Gta p.L25V BRCA 7 122342073 122342073 + Silent SNP G G A TCGA-D8-A1JN-01A-11D-A13L-09 TCGA-D8-A1JN-10A-01D-A13O-09 g.chr7:122342073G>A c.732C>T c.(730-732)ctC>ctT p.L244L BRCA 7 122342347 122342347 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr7:122342347A>C c.458T>G c.(457-459)gTg>gGg p.V153G BRCA 7 122342418 122342418 + Missense_Mutation SNP G G C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 g.chr7:122342418G>C c.387C>G c.(385-387)atC>atG p.I129M BRCA 7 122342439 122342439 + Missense_Mutation SNP C C A TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 g.chr7:122342439C>A c.366G>T c.(364-366)aaG>aaT p.K122N BRCA 7 122342506 122342506 + Nonsense_Mutation SNP G G T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 g.chr7:122342506G>T c.299C>A c.(298-300)tCa>tAa p.S100* CESC 7 122342331 122342331 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr7:122342331C>G c.474G>C c.(472-474)ctG>ctC p.L158L COAD 7 122341936 122341936 + Frame_Shift_Del DEL A A - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr7:122341936delA c.869delT c.(868-870)ttafs p.L290fs COAD 7 122341983 122341983 + Silent SNP T T C TCGA-CM-5862-01A-01D-1650-10 TCGA-CM-5862-10A-01D-1650-10 g.chr7:122341983T>C c.822A>G c.(820-822)ttA>ttG p.L274L COAD 7 122341990 122341990 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr7:122341990C>T c.815G>A c.(814-816)cGc>cAc p.R272H COAD 7 122341990 122341990 + Missense_Mutation SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr7:122341990C>T c.815G>A c.(814-816)cGc>cAc p.R272H COAD 7 122342057 122342057 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr7:122342057C>T c.748G>A c.(748-750)Gaa>Aaa p.E250K COAD 7 122342442 122342442 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr7:122342442C>A c.363G>T c.(361-363)gaG>gaT p.E121D COAD 7 122342489 122342489 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr7:122342489C>T c.316G>A c.(316-318)Gaa>Aaa p.E106K COAD 7 122342706 122342706 + Silent SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr7:122342706G>A c.99C>T c.(97-99)aaC>aaT p.N33N COADREAD 7 122341936 122341936 + Frame_Shift_Del DEL A A - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr7:122341936delA c.869delT c.(868-870)ttafs p.L290fs COADREAD 7 122341983 122341983 + Silent SNP T T C TCGA-CM-5862-01A-01D-1650-10 TCGA-CM-5862-10A-01D-1650-10 g.chr7:122341983T>C c.822A>G c.(820-822)ttA>ttG p.L274L COADREAD 7 122341990 122341990 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr7:122341990C>T c.815G>A c.(814-816)cGc>cAc p.R272H COADREAD 7 122341990 122341990 + Missense_Mutation SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr7:122341990C>T c.815G>A c.(814-816)cGc>cAc p.R272H COADREAD 7 122342057 122342057 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr7:122342057C>T c.748G>A c.(748-750)Gaa>Aaa p.E250K COADREAD 7 122342077 122342077 + Missense_Mutation SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:122342077A>G c.728T>C c.(727-729)gTt>gCt p.V243A COADREAD 7 122342385 122342385 + Missense_Mutation SNP A A T TCGA-AG-3732-01A-11D-1657-10 TCGA-AG-3732-11A-01D-1657-10 g.chr7:122342385A>T c.420T>A c.(418-420)ttT>ttA p.F140L COADREAD 7 122342442 122342442 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr7:122342442C>A c.363G>T c.(361-363)gaG>gaT p.E121D COADREAD 7 122342489 122342489 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr7:122342489C>T c.316G>A c.(316-318)Gaa>Aaa p.E106K COADREAD 7 122342706 122342706 + Silent SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr7:122342706G>A c.99C>T c.(97-99)aaC>aaT p.N33N COADREAD 7 122342770 122342770 + Missense_Mutation SNP C C T TCGA-AG-3896-01A-01W-1073-09 TCGA-AG-3896-10A-01W-1073-09 g.chr7:122342770C>T c.35G>A c.(34-36)aGt>aAt p.S12N COADREAD 7 122342791 122342791 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:122342791C>A c.14G>T c.(13-15)aGa>aTa p.R5I ESCA 7 122342265 122342265 + Silent SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 g.chr7:122342265C>G c.540G>C c.(538-540)ggG>ggC p.G180G ESCA 7 122342397 122342397 + Silent SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 g.chr7:122342397G>T c.408C>A c.(406-408)ggC>ggA p.G136G ESCA 7 122342776 122342776 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 g.chr7:122342776G>A c.29C>T c.(28-30)aCg>aTg p.T10M GBM 7 122342705 122342705 + Missense_Mutation SNP C C T TCGA-06-6389-01A-11D-1696-08 TCGA-06-6389-10A-01D-1696-08 g.chr7:122342705C>T c.100G>A c.(100-102)Gga>Aga p.G34R GBMLGG 7 122342350 122342350 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:122342350G>A c.455C>T c.(454-456)gCg>gTg p.A152V GBMLGG 7 122342705 122342705 + Missense_Mutation SNP C C T TCGA-06-6389-01A-11D-1696-08 TCGA-06-6389-10A-01D-1696-08 g.chr7:122342705C>T c.100G>A c.(100-102)Gga>Aga p.G34R HNSC 7 122341901 122341901 + Missense_Mutation SNP T T C TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 g.chr7:122341901T>C c.904A>G c.(904-906)Atc>Gtc p.I302V HNSC 7 122342350 122342350 + Missense_Mutation SNP G G A TCGA-CV-7245-01A-11D-2012-08 TCGA-CV-7245-10A-01D-2013-08 g.chr7:122342350G>A c.455C>T c.(454-456)gCg>gTg p.A152V HNSC 7 122342351 122342351 + Missense_Mutation SNP C C T TCGA-CQ-6220-01A-11D-1912-08 TCGA-CQ-6220-10A-01D-1912-08 g.chr7:122342351C>T c.454G>A c.(454-456)Gcg>Acg p.A152T HNSC 7 122342525 122342525 + Missense_Mutation SNP T T A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 g.chr7:122342525T>A c.280A>T c.(280-282)Agg>Tgg p.R94W HNSC 7 122342612 122342612 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr7:122342612G>A c.193C>T c.(193-195)Cat>Tat p.H65Y HNSC 7 122342732 122342732 + Silent SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 g.chr7:122342732G>A c.73C>T c.(73-75)Cta>Tta p.L25L KIPAN 7 122342196 122342196 + Silent SNP G G C TCGA-BP-5004-01A-01D-1462-08 TCGA-BP-5004-11A-01D-1462-08 g.chr7:122342196G>C c.609C>G c.(607-609)gcC>gcG p.A203A KIRC 7 122342196 122342196 + Silent SNP G G C TCGA-BP-5004-01A-01D-1462-08 TCGA-BP-5004-11A-01D-1462-08 g.chr7:122342196G>C c.609C>G c.(607-609)gcC>gcG p.A203A LGG 7 122342350 122342350 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:122342350G>A c.455C>T c.(454-456)gCg>gTg p.A152V LIHC 7 122342140 122342140 + Missense_Mutation SNP G G T TCGA-2Y-A9H9-01A-21D-A38X-10 TCGA-2Y-A9H9-10A-01D-A38X-10 g.chr7:122342140G>T c.665C>A c.(664-666)aCc>aAc p.T222N LIHC 7 122342165 122342165 + Missense_Mutation SNP T T C TCGA-2Y-A9H1-01A-11D-A382-10 TCGA-2Y-A9H1-10A-01D-A385-10 g.chr7:122342165T>C c.640A>G c.(640-642)Aca>Gca p.T214A LIHC 7 122342188 122342188 + Missense_Mutation SNP T T C TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr7:122342188T>C c.617A>G c.(616-618)tAc>tGc p.Y206C LIHC 7 122342235 122342235 + Silent SNP G G A TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr7:122342235G>A c.570C>T c.(568-570)taC>taT p.Y190Y LIHC 7 122342607 122342620 + Frame_Shift_Del DEL AGAATGATTCCCGA AGAATGATTCCCGA - TCGA-MI-A75G-01A-11D-A32G-10 TCGA-MI-A75G-10A-01D-A32G-10 g.chr7:122342607_122342620delAGAATGATTCCCGA c.185_198delTCGGGAATCATTCT c.(184-198)ttcgggaatcattctfs p.FGNHS62fs LUAD 7 122342159 122342159 + Nonsense_Mutation SNP T T A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 g.chr7:122342159T>A c.646A>T c.(646-648)Aga>Tga p.R216* LUAD 7 122342609 122342609 + Missense_Mutation SNP A A T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 g.chr7:122342609A>T c.196T>A c.(196-198)Tct>Act p.S66T LUAD 7 122342626 122342626 + Missense_Mutation SNP C C A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 g.chr7:122342626C>A c.179G>T c.(178-180)gGa>gTa p.G60V LUAD 7 122342643 122342643 + Silent SNP C C T TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 g.chr7:122342643C>T c.162G>A c.(160-162)tcG>tcA p.S54S LUSC 7 122341945 122341945 + Missense_Mutation SNP G G C TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 g.chr7:122341945G>C c.860C>G c.(859-861)cCc>cGc p.P287R LUSC 7 122342063 122342063 + Missense_Mutation SNP C C T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr7:122342063C>T c.742G>A c.(742-744)Gat>Aat p.D248N LUSC 7 122342126 122342126 + Missense_Mutation SNP G G C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 g.chr7:122342126G>C c.679C>G c.(679-681)Caa>Gaa p.Q227E LUSC 7 122342406 122342406 + Missense_Mutation SNP T T A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 g.chr7:122342406T>A c.399A>T c.(397-399)caA>caT p.Q133H LUSC 7 122342616 122342616 + Frame_Shift_Del DEL C C - TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr7:122342616delC c.189delG c.(187-189)gggfs p.G63fs OV 7 122342021 122342021 + Missense_Mutation SNP A A T TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 g.chr7:122342021A>T c.784T>A c.(784-786)Ttt>Att p.F262I PAAD 7 122342708 122342708 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:122342708T>G c.97A>C c.(97-99)Aac>Cac p.N33H PRAD 7 122342454 122342454 + Silent SNP G G A TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr7:122342454G>A c.351C>T c.(349-351)aaC>aaT p.N117N READ 7 122342077 122342077 + Missense_Mutation SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:122342077A>G c.728T>C c.(727-729)gTt>gCt p.V243A READ 7 122342385 122342385 + Missense_Mutation SNP A A T TCGA-AG-3732-01A-11D-1657-10 TCGA-AG-3732-11A-01D-1657-10 g.chr7:122342385A>T c.420T>A c.(418-420)ttT>ttA p.F140L READ 7 122342770 122342770 + Missense_Mutation SNP C C T TCGA-AG-3896-01A-01W-1073-09 TCGA-AG-3896-10A-01W-1073-09 g.chr7:122342770C>T c.35G>A c.(34-36)aGt>aAt p.S12N READ 7 122342791 122342791 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:122342791C>A c.14G>T c.(13-15)aGa>aTa p.R5I SKCM 7 122342004 122342004 + Silent SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr7:122342004G>A c.801C>T c.(799-801)ccC>ccT p.P267P SKCM 7 122342240 122342240 + Missense_Mutation SNP G G T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 g.chr7:122342240G>T c.565C>A c.(565-567)Cat>Aat p.H189N SKCM 7 122342352 122342352 + Silent SNP G G C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr7:122342352G>C c.453C>G c.(451-453)gtC>gtG p.V151V SKCM 7 122342384 122342384 + Missense_Mutation SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr7:122342384G>A c.421C>T c.(421-423)Ccc>Tcc p.P141S SKCM 7 122342400 122342400 + Silent SNP C C A TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr7:122342400C>A c.405G>T c.(403-405)acG>acT p.T135T SKCM 7 122342428 122342428 + Missense_Mutation SNP C C T TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr7:122342428C>T c.377G>A c.(376-378)gGg>gAg p.G126E SKCM 7 122342533 122342542 + Frame_Shift_Del DEL TTGGTCAAAG TTGGTCAAAG - TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 g.chr7:122342533_122342542delTTGGTCAAAG c.263_272delCTTTGACCAA c.(262-273)cctttgaccaatfs p.PLTN88fs SKCM 7 122342619 122342619 + Silent SNP G G A TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 g.chr7:122342619G>A c.186C>T c.(184-186)ttC>ttT p.F62F SKCM 7 122342631 122342631 + Missense_Mutation SNP C C G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr7:122342631C>G c.174G>C c.(172-174)gaG>gaC p.E58D SKCM 7 122342649 122342649 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr7:122342649G>A c.156C>T c.(154-156)atC>atT p.I52I SKCM 7 122342725 122342725 + Missense_Mutation SNP A A T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 g.chr7:122342725A>T c.80T>A c.(79-81)cTt>cAt p.L27H SKCM 7 122342756 122342756 + Missense_Mutation SNP C C T TCGA-D3-A1Q5-06A-11D-A196-08 TCGA-D3-A1Q5-10A-01D-A198-08 g.chr7:122342756C>T c.49G>A c.(49-51)Gga>Aga p.G17R

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 7 122342351 122342351 single base substitution C T missense_variant A152T 454G>A ALL-US 7 122342351 122342351 single base substitution C T missense_variant A54T 160G>A AML-US 7 122342135 122342135 single base substitution T A missense_variant E89V 266A>T AML-US 7 122342135 122342135 single base substitution T A missense_variant R224W 670A>T BLCA-US 7 122337916 122337916 single base substitution C T downstream_gene_variant BLCA-US 7 122338738 122338738 single base substitution C G downstream_gene_variant BLCA-US 7 122342732 122342732 single base substitution G C missense_variant L25V 73C>G BOCA-FR 7 122342785 122342785 deletion of <=200bp G - frameshift_variant T7 BRCA-EU 7 122336803 122336803 single base substitution G A downstream_gene_variant BRCA-EU 7 122337260 122337260 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 122337642 122337642 single base substitution C T downstream_gene_variant BRCA-EU 7 122337682 122337682 single base substitution G T downstream_gene_variant BRCA-EU 7 122337933 122337933 single base substitution T C downstream_gene_variant BRCA-EU 7 122338318 122338318 single base substitution G A downstream_gene_variant BRCA-EU 7 122339497 122339497 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 122339910 122339910 single base substitution T C downstream_gene_variant BRCA-EU 7 122340385 122340385 single base substitution G C downstream_gene_variant BRCA-EU 7 122342058 122342058 single base substitution C T 3_prime_UTR_variant BRCA-EU 7 122342058 122342058 single base substitution C T synonymous_variant E249E 747G>A BRCA-EU 7 122342633 122342633 single base substitution C A intron_variant BRCA-EU 7 122342633 122342633 single base substitution C A stop_gained E58* 172G>T BRCA-EU 7 122343615 122343615 single base substitution G A upstream_gene_variant BRCA-EU 7 122344989 122344989 single base substitution A T upstream_gene_variant BRCA-EU 7 122345510 122345510 single base substitution T C upstream_gene_variant BRCA-EU 7 122347407 122347407 single base substitution A C upstream_gene_variant BRCA-EU 7 122347487 122347487 single base substitution C A upstream_gene_variant BRCA-FR 7 122340585 122340585 single base substitution C G downstream_gene_variant BRCA-KR 7 122338891 122338891 single base substitution T C downstream_gene_variant BRCA-UK 7 122338168 122338168 single base substitution C T downstream_gene_variant BRCA-US 7 122338268 122338268 single base substitution T G downstream_gene_variant BRCA-US 7 122338358 122338358 single base substitution G A downstream_gene_variant BRCA-US 7 122338886 122338889 deletion of <=200bp CTGA - downstream_gene_variant BRCA-US 7 122342073 122342073 single base substitution G A 3_prime_UTR_variant BRCA-US 7 122342073 122342073 single base substitution G A synonymous_variant L244L 732C>T BRCA-US 7 122342347 122342347 single base substitution A C missense_variant V153G 458T>G BRCA-US 7 122342347 122342347 single base substitution A C missense_variant V55G 164T>G BRCA-US 7 122342418 122342418 single base substitution G C intron_variant BRCA-US 7 122342418 122342418 single base substitution G C missense_variant I129M 387C>G BRCA-US 7 122342439 122342439 single base substitution C A intron_variant BRCA-US 7 122342439 122342439 single base substitution C A missense_variant K122N 366G>T BRCA-US 7 122342506 122342506 single base substitution G T intron_variant BRCA-US 7 122342506 122342506 single base substitution G T stop_gained S100* 299C>A BTCA-JP 7 122342775 122342775 single base substitution C T synonymous_variant T10T 30G>A CESC-US 7 122338231 122338231 single base substitution C T downstream_gene_variant CESC-US 7 122338409 122338409 single base substitution A G downstream_gene_variant CESC-US 7 122338412 122338412 single base substitution C T downstream_gene_variant CESC-US 7 122338779 122338779 single base substitution C T downstream_gene_variant CESC-US 7 122342331 122342331 single base substitution C G synonymous_variant L158L 474G>C CESC-US 7 122342331 122342331 single base substitution C G synonymous_variant L60L 180G>C CLLE-ES 7 122339017 122339017 single base substitution C T downstream_gene_variant CLLE-ES 7 122342262 122342262 single base substitution T C synonymous_variant R181R 543A>G CLLE-ES 7 122342262 122342262 single base substitution T C synonymous_variant R83R 249A>G CLLE-ES 7 122347282 122347282 single base substitution C T upstream_gene_variant CLLE-ES 7 122347443 122347443 single base substitution C A upstream_gene_variant COAD-US 7 122338015 122338015 single base substitution G T downstream_gene_variant COAD-US 7 122338124 122338124 single base substitution A G downstream_gene_variant COAD-US 7 122338254 122338254 single base substitution C T downstream_gene_variant COAD-US 7 122341936 122341936 deletion of <=200bp A - 3_prime_UTR_variant COAD-US 7 122341936 122341936 deletion of <=200bp A - frameshift_variant L290 COAD-US 7 122341983 122341983 single base substitution T C 3_prime_UTR_variant COAD-US 7 122341983 122341983 single base substitution T C synonymous_variant L274L 822A>G COAD-US 7 122341990 122341990 single base substitution C T 3_prime_UTR_variant COAD-US 7 122341990 122341990 single base substitution C T missense_variant R272H 815G>A COAD-US 7 122342489 122342489 single base substitution C T intron_variant COAD-US 7 122342489 122342489 single base substitution C T missense_variant E106K 316G>A COAD-US 7 122342706 122342706 single base substitution G A synonymous_variant N33N 99C>T COCA-CN 7 122338654 122338654 single base substitution G A downstream_gene_variant COCA-CN 7 122342579 122342579 single base substitution C T intron_variant COCA-CN 7 122342579 122342579 single base substitution C T missense_variant A76T 226G>A COCA-CN 7 122344407 122344407 single base substitution T G upstream_gene_variant COCA-CN 7 122346263 122346263 single base substitution C T upstream_gene_variant ESAD-UK 7 122338140 122338140 insertion of <=200bp - A downstream_gene_variant ESAD-UK 7 122339660 122339660 single base substitution A C downstream_gene_variant ESAD-UK 7 122340764 122340764 single base substitution G A downstream_gene_variant ESAD-UK 7 122341656 122341656 insertion of <=200bp - A downstream_gene_variant ESAD-UK 7 122344290 122344290 single base substitution T G upstream_gene_variant ESAD-UK 7 122344311 122344311 single base substitution T A upstream_gene_variant ESAD-UK 7 122345024 122345024 single base substitution A G upstream_gene_variant ESCA-CN 7 122342776 122342776 single base substitution G A missense_variant T10M 29C>T GBM-US 7 122338474 122338474 single base substitution T G downstream_gene_variant GBM-US 7 122338662 122338662 single base substitution A C downstream_gene_variant KIRC-US 7 122341888 122341888 single base substitution T A 3_prime_UTR_variant KIRC-US 7 122341888 122341888 single base substitution T A stop_lost *306L 917A>T KIRC-US 7 122342196 122342196 single base substitution G C intron_variant KIRC-US 7 122342196 122342196 single base substitution G C synonymous_variant A203A 609C>G KIRP-US 7 122338189 122338189 single base substitution G A downstream_gene_variant LGG-US 7 122338205 122338205 single base substitution G A downstream_gene_variant LICA-CN 7 122338559 122338559 single base substitution C A downstream_gene_variant LICA-FR 7 122338964 122338964 single base substitution T C downstream_gene_variant LICA-FR 7 122346290 122346290 single base substitution C T upstream_gene_variant LIHC-US 7 122338762 122338763 deletion of <=200bp CT - downstream_gene_variant LIHC-US 7 122342188 122342188 single base substitution T C intron_variant LIHC-US 7 122342188 122342188 single base substitution T C missense_variant Y206C 617A>G LIHC-US 7 122342607 122342620 deletion of <=200bp AGAATGATTCCCGA - frameshift_variant FGNHS62 LIHC-US 7 122342607 122342620 deletion of <=200bp AGAATGATTCCCGA - intron_variant LINC-JP 7 122346159 122346159 single base substitution C T upstream_gene_variant LIRI-JP 7 122336982 122336982 single base substitution G C downstream_gene_variant LIRI-JP 7 122338868 122338868 single base substitution A G downstream_gene_variant LIRI-JP 7 122339183 122339183 single base substitution C T downstream_gene_variant LIRI-JP 7 122340379 122340379 single base substitution A G downstream_gene_variant LIRI-JP 7 122340405 122340405 single base substitution T C downstream_gene_variant LIRI-JP 7 122342346 122342346 single base substitution C G synonymous_variant V153V 459G>C LIRI-JP 7 122342346 122342346 single base substitution C G synonymous_variant V55V 165G>C LIRI-JP 7 122342617 122342617 single base substitution C G intron_variant LIRI-JP 7 122342617 122342617 single base substitution C G missense_variant G63A 188G>C LIRI-JP 7 122343689 122343689 single base substitution C A upstream_gene_variant LUSC-KR 7 122342090 122342090 single base substitution G A 3_prime_UTR_variant LUSC-KR 7 122342090 122342090 single base substitution G A missense_variant L239F 715C>T LUSC-KR 7 122342468 122342468 single base substitution T A intron_variant LUSC-KR 7 122342468 122342468 single base substitution T A missense_variant T113S 337A>T LUSC-KR 7 122342861 122342861 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 7 122343210 122343210 single base substitution T G upstream_gene_variant LUSC-KR 7 122346290 122346290 single base substitution C T upstream_gene_variant LUSC-US 7 122338498 122338498 single base substitution T A downstream_gene_variant LUSC-US 7 122338528 122338528 single base substitution C T downstream_gene_variant LUSC-US 7 122338572 122338572 single base substitution C G downstream_gene_variant LUSC-US 7 122341945 122341945 single base substitution G C 3_prime_UTR_variant LUSC-US 7 122341945 122341945 single base substitution G C missense_variant P287R 860C>G LUSC-US 7 122342063 122342063 single base substitution C T 3_prime_UTR_variant LUSC-US 7 122342063 122342063 single base substitution C T missense_variant D248N 742G>A LUSC-US 7 122342126 122342126 single base substitution G C missense_variant Q227E 679C>G LUSC-US 7 122342126 122342126 single base substitution G C stop_gained S92* 275C>G LUSC-US 7 122342406 122342406 single base substitution T A intron_variant LUSC-US 7 122342406 122342406 single base substitution T A missense_variant Q133H 399A>T LUSC-US 7 122342616 122342616 deletion of <=200bp C - frameshift_variant G63 LUSC-US 7 122342616 122342616 deletion of <=200bp C - intron_variant MALY-DE 7 122337044 122337044 single base substitution C T downstream_gene_variant MALY-DE 7 122337569 122337569 single base substitution T C downstream_gene_variant MALY-DE 7 122337583 122337583 single base substitution T C downstream_gene_variant MALY-DE 7 122337591 122337591 single base substitution A G downstream_gene_variant MALY-DE 7 122337652 122337652 single base substitution G A downstream_gene_variant MALY-DE 7 122337745 122337745 single base substitution G T downstream_gene_variant MALY-DE 7 122338142 122338142 single base substitution A C downstream_gene_variant MALY-DE 7 122341199 122341199 single base substitution T C downstream_gene_variant MALY-DE 7 122341736 122341736 single base substitution A C 3_prime_UTR_variant MALY-DE 7 122342566 122342566 single base substitution C A intron_variant MALY-DE 7 122342566 122342566 single base substitution C A missense_variant G80V 239G>T MALY-DE 7 122342896 122342896 single base substitution T C 5_prime_UTR_variant MALY-DE 7 122344838 122344838 single base substitution G C upstream_gene_variant MALY-DE 7 122347694 122347694 deletion of <=200bp T - upstream_gene_variant MALY-DE 7 122347853 122347853 insertion of <=200bp - TA upstream_gene_variant MELA-AU 7 122336752 122336752 single base substitution T A downstream_gene_variant MELA-AU 7 122336946 122336946 single base substitution G A downstream_gene_variant MELA-AU 7 122337227 122337227 single base substitution A T downstream_gene_variant MELA-AU 7 122337958 122337958 single base substitution C T downstream_gene_variant MELA-AU 7 122338119 122338119 single base substitution G A downstream_gene_variant MELA-AU 7 122338165 122338165 single base substitution G A downstream_gene_variant MELA-AU 7 122338255 122338255 single base substitution G A downstream_gene_variant MELA-AU 7 122338480 122338480 single base substitution G A downstream_gene_variant MELA-AU 7 122338490 122338490 single base substitution C G downstream_gene_variant MELA-AU 7 122338734 122338734 single base substitution C T downstream_gene_variant MELA-AU 7 122338769 122338769 single base substitution C T downstream_gene_variant MELA-AU 7 122339172 122339172 single base substitution G A downstream_gene_variant MELA-AU 7 122339291 122339291 single base substitution G A downstream_gene_variant MELA-AU 7 122339319 122339319 single base substitution T G downstream_gene_variant MELA-AU 7 122339402 122339402 single base substitution C T downstream_gene_variant MELA-AU 7 122339479 122339479 single base substitution C T downstream_gene_variant MELA-AU 7 122339497 122339498 deletion of <=200bp AA - downstream_gene_variant MELA-AU 7 122339923 122339923 single base substitution T C downstream_gene_variant MELA-AU 7 122340188 122340188 single base substitution C T downstream_gene_variant MELA-AU 7 122340216 122340216 single base substitution C T downstream_gene_variant MELA-AU 7 122340433 122340433 single base substitution G A downstream_gene_variant MELA-AU 7 122340915 122340915 single base substitution C T downstream_gene_variant MELA-AU 7 122341262 122341262 single base substitution G A downstream_gene_variant MELA-AU 7 122341263 122341263 single base substitution G T downstream_gene_variant MELA-AU 7 122341323 122341323 single base substitution G A downstream_gene_variant MELA-AU 7 122341345 122341345 single base substitution G A downstream_gene_variant MELA-AU 7 122341504 122341504 single base substitution G A downstream_gene_variant MELA-AU 7 122341618 122341618 single base substitution C T downstream_gene_variant MELA-AU 7 122341660 122341660 deletion of <=200bp A - downstream_gene_variant MELA-AU 7 122341791 122341791 single base substitution G A 3_prime_UTR_variant MELA-AU 7 122341977 122341977 single base substitution G C 3_prime_UTR_variant MELA-AU 7 122341977 122341977 single base substitution G C missense_variant C276W 828C>G MELA-AU 7 122342069 122342069 single base substitution C T 3_prime_UTR_variant MELA-AU 7 122342069 122342069 single base substitution C T missense_variant E246K 736G>A MELA-AU 7 122342240 122342240 single base substitution G A missense_variant H189Y 565C>T MELA-AU 7 122342240 122342240 single base substitution G A splice_region_variant MELA-AU 7 122342375 122342375 single base substitution G A missense_variant H144Y 430C>T MELA-AU 7 122342375 122342375 single base substitution G A splice_region_variant MELA-AU 7 122342384 122342384 single base substitution G A intron_variant MELA-AU 7 122342384 122342384 single base substitution G A missense_variant P141S 421C>T MELA-AU 7 122342573 122342573 single base substitution G A intron_variant MELA-AU 7 122342573 122342573 single base substitution G A missense_variant P78S 232C>T MELA-AU 7 122342619 122342619 single base substitution G A intron_variant MELA-AU 7 122342619 122342619 single base substitution G A synonymous_variant F62F 186C>T MELA-AU 7 122342659 122342659 single base substitution C T intron_variant MELA-AU 7 122342659 122342659 single base substitution C T missense_variant G49E 146G>A MELA-AU 7 122342704 122342705 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant G34K 100GG>AA MELA-AU 7 122342761 122342761 single base substitution G A missense_variant S15L 44C>T MELA-AU 7 122342796 122342796 single base substitution G A synonymous_variant F3F 9C>T MELA-AU 7 122342878 122342878 single base substitution T G 5_prime_UTR_variant MELA-AU 7 122342963 122342963 single base substitution A T 5_prime_UTR_variant MELA-AU 7 122342991 122342991 single base substitution G A 5_prime_UTR_variant MELA-AU 7 122342991 122342991 single base substitution G A upstream_gene_variant MELA-AU 7 122343177 122343177 single base substitution G A upstream_gene_variant MELA-AU 7 122343961 122343961 single base substitution G A upstream_gene_variant MELA-AU 7 122344183 122344183 single base substitution G A upstream_gene_variant MELA-AU 7 122344643 122344643 single base substitution A T upstream_gene_variant MELA-AU 7 122344921 122344921 single base substitution C T upstream_gene_variant MELA-AU 7 122345013 122345013 single base substitution T C upstream_gene_variant MELA-AU 7 122345058 122345058 single base substitution G A upstream_gene_variant MELA-AU 7 122345532 122345532 single base substitution T C upstream_gene_variant MELA-AU 7 122346202 122346202 single base substitution G A upstream_gene_variant MELA-AU 7 122346682 122346682 single base substitution G A upstream_gene_variant MELA-AU 7 122346942 122346942 single base substitution T A upstream_gene_variant MELA-AU 7 122346961 122346961 single base substitution A C upstream_gene_variant MELA-AU 7 122347345 122347345 single base substitution G A upstream_gene_variant MELA-AU 7 122347443 122347443 single base substitution C T upstream_gene_variant MELA-AU 7 122347553 122347553 single base substitution G A upstream_gene_variant MELA-AU 7 122347813 122347813 single base substitution G A upstream_gene_variant ORCA-IN 7 122338090 122338090 single base substitution T C downstream_gene_variant ORCA-IN 7 122344773 122344773 single base substitution G A upstream_gene_variant OV-AU 7 122336841 122336841 single base substitution T C downstream_gene_variant OV-AU 7 122337676 122337676 single base substitution C T downstream_gene_variant OV-AU 7 122338301 122338301 single base substitution C T downstream_gene_variant OV-AU 7 122340879 122340879 single base substitution G T downstream_gene_variant OV-AU 7 122341097 122341097 single base substitution A C downstream_gene_variant OV-AU 7 122344080 122344080 single base substitution A T upstream_gene_variant OV-AU 7 122344083 122344083 single base substitution T A upstream_gene_variant OV-AU 7 122346040 122346040 single base substitution T A upstream_gene_variant PACA-AU 7 122338348 122338348 single base substitution G A downstream_gene_variant PACA-AU 7 122341069 122341069 single base substitution T A downstream_gene_variant PACA-AU 7 122341265 122341265 single base substitution T C downstream_gene_variant PACA-AU 7 122342164 122342164 single base substitution G T intron_variant PACA-AU 7 122342164 122342164 single base substitution G T missense_variant T214K 641C>A PACA-CA 7 122338574 122338574 single base substitution T A downstream_gene_variant PACA-CA 7 122338886 122338886 single base substitution C A downstream_gene_variant PACA-CA 7 122343583 122343583 single base substitution T C upstream_gene_variant PACA-CA 7 122343978 122343978 single base substitution G C upstream_gene_variant PACA-CA 7 122346352 122346352 single base substitution C T upstream_gene_variant PACA-CA 7 122346865 122346865 single base substitution C T upstream_gene_variant PACA-CA 7 122347852 122347852 insertion of <=200bp - TA upstream_gene_variant PAEN-IT 7 122338489 122338489 single base substitution C G downstream_gene_variant PBCA-DE 7 122337486 122337486 single base substitution A T downstream_gene_variant PBCA-DE 7 122339412 122339412 single base substitution G A downstream_gene_variant PBCA-DE 7 122343274 122343274 insertion of <=200bp - T upstream_gene_variant PBCA-DE 7 122343843 122343843 single base substitution C T upstream_gene_variant PBCA-DE 7 122345489 122345489 deletion of <=200bp G - upstream_gene_variant PBCA-DE 7 122346634 122346635 deletion of <=200bp TA - upstream_gene_variant PBCA-DE 7 122346803 122346804 deletion of <=200bp AT - upstream_gene_variant PRAD-CA 7 122337682 122337682 single base substitution G T downstream_gene_variant PRAD-CA 7 122346159 122346159 single base substitution C T upstream_gene_variant PRAD-UK 7 122337673 122337673 single base substitution A T downstream_gene_variant PRAD-UK 7 122341509 122341509 single base substitution G A downstream_gene_variant PRAD-UK 7 122342438 122342438 single base substitution C T intron_variant PRAD-UK 7 122342438 122342438 single base substitution C T missense_variant G123R 367G>A PRAD-UK 7 122345318 122345318 single base substitution G A upstream_gene_variant PRAD-UK 7 122345990 122346012 deletion of <=200bp TATATAATATAATATATAATATA - upstream_gene_variant PRAD-UK 7 122345991 122346018 deletion of <=200bp ATATAATATAATATATAATATATATATA - upstream_gene_variant PRAD-US 7 122342454 122342454 single base substitution G A intron_variant PRAD-US 7 122342454 122342454 single base substitution G A synonymous_variant N117N 351C>T RECA-EU 7 122337222 122337222 single base substitution A G downstream_gene_variant RECA-EU 7 122341925 122341925 single base substitution T C 3_prime_UTR_variant RECA-EU 7 122341925 122341925 single base substitution T C missense_variant T294A 880A>G RECA-EU 7 122344215 122344215 single base substitution T A upstream_gene_variant SKCA-BR 7 122339172 122339172 single base substitution G A downstream_gene_variant SKCA-BR 7 122339778 122339778 single base substitution A T downstream_gene_variant SKCA-BR 7 122340592 122340592 single base substitution T C downstream_gene_variant SKCA-BR 7 122341274 122341274 single base substitution G A downstream_gene_variant SKCA-BR 7 122341501 122341501 single base substitution G A downstream_gene_variant SKCA-BR 7 122341504 122341504 single base substitution G A downstream_gene_variant SKCA-BR 7 122343633 122343633 single base substitution G A upstream_gene_variant SKCA-BR 7 122345609 122345625 deletion of <=200bp TTATATTATATATTATC - upstream_gene_variant SKCA-BR 7 122345976 122345976 insertion of <=200bp - ATCTC upstream_gene_variant SKCA-BR 7 122345989 122345989 insertion of <=200bp - TAA upstream_gene_variant SKCA-BR 7 122346001 122346001 single base substitution A T upstream_gene_variant SKCA-BR 7 122346002 122346002 single base substitution T C upstream_gene_variant SKCA-BR 7 122346004 122346004 single base substitution T C upstream_gene_variant SKCA-BR 7 122346008 122346008 single base substitution A T upstream_gene_variant SKCA-BR 7 122346017 122346017 single base substitution T A upstream_gene_variant SKCA-BR 7 122346145 122346147 deletion of <=200bp AAT - upstream_gene_variant SKCA-BR 7 122346174 122346176 deletion of <=200bp AAT - upstream_gene_variant SKCA-BR 7 122346263 122346263 single base substitution C T upstream_gene_variant SKCA-BR 7 122346290 122346290 single base substitution C T upstream_gene_variant SKCA-BR 7 122346317 122346317 single base substitution T C upstream_gene_variant SKCA-BR 7 122347575 122347575 single base substitution G A upstream_gene_variant SKCM-US 7 122337852 122337852 single base substitution G A downstream_gene_variant SKCM-US 7 122338165 122338165 single base substitution G A downstream_gene_variant SKCM-US 7 122338180 122338180 single base substitution G A downstream_gene_variant SKCM-US 7 122338182 122338182 single base substitution T G downstream_gene_variant SKCM-US 7 122338308 122338308 single base substitution C T downstream_gene_variant SKCM-US 7 122338481 122338481 single base substitution G A downstream_gene_variant SKCM-US 7 122338482 122338482 single base substitution A G downstream_gene_variant SKCM-US 7 122338483 122338483 single base substitution A T downstream_gene_variant SKCM-US 7 122338646 122338646 single base substitution A G downstream_gene_variant SKCM-US 7 122338703 122338703 single base substitution G A downstream_gene_variant SKCM-US 7 122341965 122341965 single base substitution G A 3_prime_UTR_variant SKCM-US 7 122341965 122341965 single base substitution G A synonymous_variant F280F 840C>T SKCM-US 7 122342004 122342004 single base substitution G A 3_prime_UTR_variant SKCM-US 7 122342004 122342004 single base substitution G A synonymous_variant P267P 801C>T SKCM-US 7 122342240 122342240 single base substitution G T missense_variant H189N 565C>A SKCM-US 7 122342240 122342240 single base substitution G T splice_region_variant SKCM-US 7 122342352 122342352 single base substitution G C synonymous_variant V151V 453C>G SKCM-US 7 122342352 122342352 single base substitution G C synonymous_variant V53V 159C>G SKCM-US 7 122342384 122342384 single base substitution G A intron_variant SKCM-US 7 122342384 122342384 single base substitution G A missense_variant P141S 421C>T SKCM-US 7 122342400 122342400 single base substitution C A intron_variant SKCM-US 7 122342400 122342400 single base substitution C A synonymous_variant T135T 405G>T SKCM-US 7 122342428 122342428 single base substitution C T intron_variant SKCM-US 7 122342428 122342428 single base substitution C T missense_variant G126E 377G>A SKCM-US 7 122342533 122342542 deletion of <=200bp TTGGTCAAAG - frameshift_variant PLTN88 SKCM-US 7 122342533 122342542 deletion of <=200bp TTGGTCAAAG - intron_variant SKCM-US 7 122342619 122342619 single base substitution G A intron_variant SKCM-US 7 122342619 122342619 single base substitution G A synonymous_variant F62F 186C>T SKCM-US 7 122342631 122342631 single base substitution C G intron_variant SKCM-US 7 122342631 122342631 single base substitution C G missense_variant E58D 174G>C SKCM-US 7 122342642 122342642 single base substitution C T intron_variant SKCM-US 7 122342642 122342642 single base substitution C T missense_variant E55K 163G>A SKCM-US 7 122342649 122342649 single base substitution G A intron_variant SKCM-US 7 122342649 122342649 single base substitution G A synonymous_variant I52I 156C>T SKCM-US 7 122342725 122342725 single base substitution A T missense_variant L27H 80T>A SKCM-US 7 122342756 122342756 single base substitution C T missense_variant G17R 49G>A STAD-US 7 122338188 122338188 single base substitution C T downstream_gene_variant STAD-US 7 122338523 122338523 single base substitution G A downstream_gene_variant STAD-US 7 122338599 122338599 single base substitution C T downstream_gene_variant STAD-US 7 122338722 122338722 single base substitution T C downstream_gene_variant STAD-US 7 122338733 122338733 single base substitution T C downstream_gene_variant STAD-US 7 122338804 122338804 single base substitution C T downstream_gene_variant STAD-US 7 122341966 122341966 insertion of <=200bp - A 3_prime_UTR_variant STAD-US 7 122341966 122341966 insertion of <=200bp - A frameshift_variant F280F? STAD-US 7 122341990 122341990 single base substitution C T 3_prime_UTR_variant STAD-US 7 122341990 122341990 single base substitution C T missense_variant R272H 815G>A STAD-US 7 122342061 122342061 single base substitution A G 3_prime_UTR_variant STAD-US 7 122342061 122342061 single base substitution A G synonymous_variant D248D 744T>C STAD-US 7 122342177 122342177 single base substitution C T intron_variant STAD-US 7 122342177 122342177 single base substitution C T missense_variant V210I 628G>A STAD-US 7 122342388 122342388 single base substitution T A intron_variant STAD-US 7 122342388 122342388 single base substitution T A synonymous_variant V139V 417A>T STAD-US 7 122342486 122342486 single base substitution G A intron_variant STAD-US 7 122342486 122342486 single base substitution G A missense_variant R107C 319C>T STAD-US 7 122342670 122342670 single base substitution T A synonymous_variant T45T 135A>T STAD-US 7 122342678 122342678 single base substitution T G missense_variant N43H 127A>C THCA-US 7 122342453 122342453 single base substitution C T intron_variant THCA-US 7 122342453 122342453 single base substitution C T missense_variant V118M 352G>A UCEC-US 7 122338164 122338164 single base substitution C T downstream_gene_variant UCEC-US 7 122338487 122338487 single base substitution T G downstream_gene_variant UCEC-US 7 122338543 122338543 single base substitution G T downstream_gene_variant UCEC-US 7 122338702 122338702 single base substitution T C downstream_gene_variant UCEC-US 7 122341977 122341977 single base substitution G A 3_prime_UTR_variant UCEC-US 7 122341977 122341977 single base substitution G A synonymous_variant C276C 828C>T UCEC-US 7 122342106 122342106 single base substitution C A missense_variant K233N 699G>T UCEC-US 7 122342106 122342106 single base substitution C A stop_gained E99* 295G>T UCEC-US 7 122342131 122342131 single base substitution C T missense_variant R225Q 674G>A UCEC-US 7 122342131 122342131 single base substitution C T synonymous_variant A90A 270G>A UCEC-US 7 122342250 122342250 single base substitution C T synonymous_variant Q185Q 555G>A UCEC-US 7 122342250 122342250 single base substitution C T synonymous_variant Q87Q 261G>A UCEC-US 7 122342351 122342351 single base substitution C T missense_variant A152T 454G>A UCEC-US 7 122342351 122342351 single base substitution C T missense_variant A54T 160G>A UCEC-US 7 122342425 122342425 single base substitution A G intron_variant UCEC-US 7 122342425 122342425 single base substitution A G missense_variant V127A 380T>C UCEC-US 7 122342489 122342489 single base substitution C T intron_variant UCEC-US 7 122342489 122342489 single base substitution C T missense_variant E106K 316G>A UCEC-US 7 122342644 122342644 single base substitution G A intron_variant UCEC-US 7 122342644 122342644 single base substitution G A missense_variant S54L 161C>T UCEC-US 7 122342775 122342775 single base substitution C T synonymous_variant T10T 30G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand YUOTHO COSM5406360 c.145G>A p.G49R Substitution - Missense 7:122702606-122702606 - PT37 COSM5919429 c.805G>A p.D269N Substitution - Missense 7:122701946-122701946 - RK035_C01 COSM1635090 c.188G>C p.G63A Substitution - Missense 7:122702563-122702563 - YUROG COSM5406362 c.101G>A p.G34E Substitution - Missense 7:122702650-122702650 - T3080 COSM4722005 c.441G>A p.T147T Substitution - coding silent 7:122702310-122702310 - 2492715 COSM1635089 c.188G>C p.G63A Substitution - Missense 7:122702563-122702563 - Gp2D COSM4628578 c.494A>G p.H165R Substitution - Missense 7:122702257-122702257 - LUAD-TLLGS COSM347659 c.899G>A p.C300Y Substitution - Missense 7:122701852-122701852 - TCGA-EL-A3ZK-01 COSM2767161 c.352G>A p.V118M Substitution - Missense 7:122702399-122702399 - TCGA-BR-4257-01 COSM1223908 c.815G>A p.R272H Substitution - Missense 7:122701936-122701936 - PT45 COSM5927482 c.50G>A p.G17E Substitution - Missense 7:122702701-122702701 - 3N63-VS-3T63 COSM744801 c.860C>G p.P287R Substitution - Missense 7:122701891-122701891 - Pat_76_A COSM3632586 c.421C>T p.P141S Substitution - Missense 7:122702330-122702330 - TCGA-EE-A2M8-06 COSM3632600 c.80T>A p.L27H Substitution - Missense 7:122702671-122702671 - TCGA-EB-A3XB-01 COSM3632579 c.840C>T p.F280F Substitution - coding silent 7:122701911-122701911 - 2000756 COSM1644955 c.46T>C p.S16P Substitution - Missense 7:122702705-122702705 - TCGA-BR-4257-01 COSM267342 c.815G>A p.R272H Substitution - Missense 7:122701936-122701936 - P154 COSM1735802 c.620_621insTT p.L207fs*2 Insertion - Frameshift 7:122702130-122702131 - TCGA-HU-A4H8-01 COSM3877685 c.744T>C p.D248D Substitution - coding silent 7:122702007-122702007 - 2250188 COSM5030741 c.20delC p.P8fs*12 Deletion - Frameshift 7:122702731-122702731 - DLD1 COSM4625910 c.66T>C p.S22S Substitution - coding silent 7:122702685-122702685 - TCGA-AP-A051-01 COSM1596735 c.699G>T p.K233N Substitution - Missense 7:122702052-122702052 - tumor_4135099 COSM3928023 c.239G>T p.G80V Substitution - Missense 7:122702512-122702512 - TCGA-AA-3492-01 COSM1447655 c.869delT p.L290fs*1 Deletion - Frameshift 7:122701882-122701882 - CSCC-27-T COSM4512062 c.88C>T p.P30S Substitution - Missense 7:122702663-122702663 - PT37 COSM5919433 c.239G>A p.G80E Substitution - Missense 7:122702512-122702512 - TCGA-AP-A0LM-01 COSM1596732 c.674G>A p.R225Q Substitution - Missense 7:122702077-122702077 - TCGA-BR-8360-01 COSM3877693 c.135A>T p.T45T Substitution - coding silent 7:122702616-122702616 - TCGA-D8-A1JT-01 COSM1488181 c.366G>T p.K122N Substitution - Missense 7:122702385-122702385 - TCGA-B7-5818-01 COSM3877695 c.127A>C p.N43H Substitution - Missense 7:122702624-122702624 - PT37 COSM5919434 c.239G>A p.G80E Substitution - Missense 7:122702512-122702512 - TCGA-AC-A3W5-01 COSM3831756 c.387C>G p.I129M Substitution - Missense 7:122702364-122702364 - TCGA-BR-6452-01 COSM3877689 c.417A>T p.V139V Substitution - coding silent 7:122702334-122702334 - TCGA-60-2723-01 COSM744801 c.860C>G p.P287R Substitution - Missense 7:122701891-122701891 - PT37 COSM5919430 c.805G>A p.D269N Substitution - Missense 7:122701946-122701946 - TCGA-GN-A265-06 COSM3632582 c.565C>A p.H189N Substitution - Missense 7:122702186-122702186 - CSCC-11-T COSM4462507 c.124C>T p.L42L Substitution - coding silent 7:122702627-122702627 - TCGA-AU-6004-01 COSM1223908 c.815G>A p.R272H Substitution - Missense 7:122701936-122701936 - TCGA-CM-5862-01 COSM1447658 c.822A>G p.L274L Substitution - coding silent 7:122701929-122701929 - PD13311a COSM5790294 c.172G>T p.E58* Substitution - Nonsense 7:122702579-122702579 - ATL045 COSM5710337 c.265T>G p.L89V Substitution - Missense 7:122702486-122702486 - TCGA-B0-4822-01 COSM3366748 c.917A>T p.*306L Nonstop extension 7:122701834-122701834 - 8061109 COSM3394502 c.641C>A p.T214K Substitution - Missense 7:122702110-122702110 - LN18 COSM5712429 c.843T>G p.H281Q Substitution - Missense 7:122701908-122701908 - T3090 COSM4722006 c.346delA p.I116fs*12 Deletion - Frameshift 7:122702405-122702405 - TCGA-CA-6718-01 COSM1447659 c.316G>A p.E106K Substitution - Missense 7:122702435-122702435 - TCGA-A2-A3Y0-01 COSM3831758 c.299C>A p.S100* Substitution - Nonsense 7:122702452-122702452 - PT38 COSM5922648 c.422C>T p.P141L Substitution - Missense 7:122702329-122702329 - 8061109 COSM3394501 c.641C>A p.T214K Substitution - Missense 7:122702110-122702110 - TCGA-29-1783-01 COSM1330126 c.784T>A p.F262I Substitution - Missense 7:122701967-122701967 - TCGA-D1-A160-01 COSM1596730 c.555G>A p.Q185Q Substitution - coding silent 7:122702196-122702196 - TCGA-AP-A0LM-01 COSM1596733 c.674G>A p.R225Q Substitution - Missense 7:122702077-122702077 - S00841 COSM5662045 c.803A>G p.Q268R Substitution - Missense 7:122701948-122701948 - TCGA-J9-A52C-01 COSM4877435 c.351C>T p.N117N Substitution - coding silent 7:122702400-122702400 - TCGA-B0-4822-01 COSM3366749 c.917A>T p.*306L Nonstop extension 7:122701834-122701834 - ESCC_141 COSM5643611 c.464T>G p.I155R Substitution - Missense 7:122702287-122702287 - TCGA-G4-6588-01 COSM1154737 c.99C>T p.N33N Substitution - coding silent 7:122702652-122702652 - PCSI_0612_Pa_P_526 COSM5762050 c.109A>C p.I37L Substitution - Missense 7:122702642-122702642 - 2290930 COSM4440120 c.414delA p.V139fs*12 Deletion - Frameshift 7:122702337-122702337 - Gp5D COSM2767158 c.411T>C p.S137S Substitution - coding silent 7:122702340-122702340 - TCGA-D3-A1Q5-06 COSM3632603 c.49G>A p.G17R Substitution - Missense 7:122702702-122702702 - TCGA-AX-A0J0-01 COSM1447659 c.316G>A p.E106K Substitution - Missense 7:122702435-122702435 - TCGA-GN-A266-06 COSM3632594 c.174G>C p.E58D Substitution - Missense 7:122702577-122702577 - CSCC-27-T COSM4512063 c.88C>T p.P30S Substitution - Missense 7:122702663-122702663 - C008 COSM5523697 c.205G>A p.E69K Substitution - Missense 7:122702546-122702546 - 587256 COSM1223908 c.815G>A p.R272H Substitution - Missense 7:122701936-122701936 - CSCC-29-T COSM4566608 c.422_423CC>TT p.P141L Substitution - Missense 7:122702328-122702329 - C008 COSM5523699 c.44C>T p.S15L Substitution - Missense 7:122702707-122702707 - BD124T COSM1596725 c.30G>A p.T10T Substitution - coding silent 7:122702721-122702721 - TCGA-G2-A3VY-01 COSM3778067 c.73C>G p.L25V Substitution - Missense 7:122702678-122702678 - 244-05-1TD COSM5417129 c.543A>G p.R181R Substitution - coding silent 7:122702208-122702208 - TCGA-BS-A0UV-01 COSM1447660 c.316G>A p.E106K Substitution - Missense 7:122702435-122702435 - TCGA-JX-A3Q0-01 COSM4824691 c.474G>C p.L158L Substitution - coding silent 7:122702277-122702277 - TCGA-J9-A52C-01 COSM4877434 c.351C>T p.N117N Substitution - coding silent 7:122702400-122702400 - TCGA-CM-5862-01 COSM1447657 c.822A>G p.L274L Substitution - coding silent 7:122701929-122701929 - Pat_60_B COSM5871705 c.169G>A p.G57R Substitution - Missense 7:122702582-122702582 - TCGA-EB-A3XB-01 COSM3632578 c.840C>T p.F280F Substitution - coding silent 7:122701911-122701911 - TCGA-AG-A002-01 COSM263368 c.14G>T p.R5I Substitution - Missense 7:122702737-122702737 - TCGA-AG-A02N-01 COSM1596725 c.30G>A p.T10T Substitution - coding silent 7:122702721-122702721 - PD17991a COSM5795540 c.747G>A p.E249E Substitution - coding silent 7:122702004-122702004 - TCGA-D8-A1JN-01 COSM1488179 c.732C>T p.L244L Substitution - coding silent 7:122702019-122702019 - TCGA-A8-A0A6-01 COSM3831755 c.458T>G p.V153G Substitution - Missense 7:122702293-122702293 - PT52 COSM5939746 c.10C>T p.L4F Substitution - Missense 7:122702741-122702741 - YUOTHO COSM5406354 c.653C>A p.P218H Substitution - Missense 7:122702098-122702098 - Pat_60_B COSM5871706 c.169G>A p.G57R Substitution - Missense 7:122702582-122702582 - TCGA-BS-A0UV-01 COSM1447659 c.316G>A p.E106K Substitution - Missense 7:122702435-122702435 - T3090 COSM4722007 c.346delA p.I116fs*12 Deletion - Frameshift 7:122702405-122702405 - TCGA-HU-A4GT-01 COSM3877690 c.319C>T p.R107C Substitution - Missense 7:122702432-122702432 - TCGA-EE-A2M8-06 COSM3632601 c.80T>A p.L27H Substitution - Missense 7:122702671-122702671 - Gp5D COSM2767157 c.411T>C p.S137S Substitution - coding silent 7:122702340-122702340 - P154 COSM1735803 c.620_621insTT p.L207fs*2 Insertion - Frameshift 7:122702130-122702131 - 3N63-VS-3T63 COSM1150558 c.860C>G p.P287R Substitution - Missense 7:122701891-122701891 - T42 COSM4877434 c.351C>T p.N117N Substitution - coding silent 7:122702400-122702400 - SJDOSTEOS005 COSM5760528 c.158C>G p.T53R Substitution - Missense 7:122702593-122702593 - TCGA-JX-A3Q0-01 COSM4824692 c.474G>C p.L158L Substitution - coding silent 7:122702277-122702277 - C086 COSM3632586 c.421C>T p.P141S Substitution - Missense 7:122702330-122702330 - Pat_08_A COSM3632586 c.421C>T p.P141S Substitution - Missense 7:122702330-122702330 - sysucc-834T COSM5486593 c.226G>A p.A76T Substitution - Missense 7:122702525-122702525 - TCGA-AG-3896-01 COSM258678 c.35G>A p.S12N Substitution - Missense 7:122702716-122702716 - EGC15 COSM5062146 c.467G>T p.S156I Substitution - Missense 7:122702284-122702284 - C008 COSM5523701 c.204G>A p.L68L Substitution - coding silent 7:122702547-122702547 - TCGA-BS-A0UV-01 COSM1596724 c.30G>A p.T10T Substitution - coding silent 7:122702721-122702721 - CSCC-29-T COSM4479484 c.232C>T p.P78S Substitution - Missense 7:122702519-122702519 - 2492729 COSM5727568 c.609C>T p.A203A Substitution - coding silent 7:122702142-122702142 - TCGA-FS-A1ZU-06 COSM3632592 c.186C>T p.F62F Substitution - coding silent 7:122702565-122702565 - TCGA-D1-A17Q-01 COSM1596727 c.161C>T p.S54L Substitution - Missense 7:122702590-122702590 - PT45 COSM5927481 c.50G>A p.G17E Substitution - Missense 7:122702701-122702701 - PT48 COSM5908796 c.659C>T p.S220F Substitution - Missense 7:122702092-122702092 - TCGA-D1-A17M-01 COSM1154737 c.99C>T p.N33N Substitution - coding silent 7:122702652-122702652 - 2492715 COSM1635090 c.188G>C p.G63A Substitution - Missense 7:122702563-122702563 - RK035_C01 COSM1635089 c.188G>C p.G63A Substitution - Missense 7:122702563-122702563 - 2250188 COSM5030740 c.20delC p.P8fs*12 Deletion - Frameshift 7:122702731-122702731 - TCGA-AP-A059-01 COSM1084847 c.828C>T p.C276C Substitution - coding silent 7:122701923-122701923 - TCGA-B7-5816-01 COSM3877687 c.628G>A p.V210I Substitution - Missense 7:122702123-122702123 - TCGA-AP-A051-01 COSM1596734 c.699G>T p.K233N Substitution - Missense 7:122702052-122702052 - 587256 COSM267342 c.815G>A p.R272H Substitution - Missense 7:122701936-122701936 - S00841 COSM5662044 c.803A>G p.Q268R Substitution - Missense 7:122701948-122701948 - Gp2D COSM4628577 c.494A>G p.H165R Substitution - Missense 7:122702257-122702257 - TCGA-33-4566-01 COSM1150559 c.742G>A p.D248N Substitution - Missense 7:122702009-122702009 - ATL045 COSM5710338 c.265T>G p.L89V Substitution - Missense 7:122702486-122702486 - PT52 COSM5939745 c.10C>T p.L4F Substitution - Missense 7:122702741-122702741 - 0110_CRUK_PC_0110_T1_DNA COSM5424007 c.367G>A p.G123R Substitution - Missense 7:122702384-122702384 - sysucc-834T COSM5486594 c.226G>A p.A76T Substitution - Missense 7:122702525-122702525 - TCGA-AG-3732-01 COSM1568654 c.420T>A p.F140L Substitution - Missense 7:122702331-122702331 - Au1 COSM5597501 c.484G>A p.E162K Substitution - Missense 7:122702267-122702267 - Ad4 COSM4441047 c.489T>G p.I163M Substitution - Missense 7:122702262-122702262 - Pat_76_B COSM3632587 c.421C>T p.P141S Substitution - Missense 7:122702330-122702330 - TCGA-FS-A1ZU-06 COSM3632593 c.186C>T p.F62F Substitution - coding silent 7:122702565-122702565 - PT37 COSM5919432 c.436G>A p.G146R Substitution - Missense 7:122702315-122702315 - TCGA-AC-A3W5-01 COSM3831757 c.387C>G p.I129M Substitution - Missense 7:122702364-122702364 - TCGA-D3-A1Q6-06 COSM3632589 c.405G>T p.T135T Substitution - coding silent 7:122702346-122702346 - CHEWS027 COSM4587081 c.45A>G p.S15S Substitution - coding silent 7:122702706-122702706 - PASLZM COSM1596728 c.454G>A p.A152T Substitution - Missense 7:122702297-122702297 - TCGA-AA-A00N-01 COSM277084 c.748G>A p.E250K Substitution - Missense 7:122702003-122702003 - CSCC-29-T COSM4566609 c.422_423CC>TT p.P141L Substitution - Missense 7:122702328-122702329 - CNE1 COSM4997207 c.91G>A p.D31N Substitution - Missense 7:122702660-122702660 - ESCC_118 COSM5640349 c.658T>A p.S220T Substitution - Missense 7:122702093-122702093 - 422 COSM4432395 c.647G>C p.R216T Substitution - Missense 7:122702104-122702104 - Pat_76_B COSM3632586 c.421C>T p.P141S Substitution - Missense 7:122702330-122702330 - TARGET-20-PARHVK-09A-01D COSM5487485 c.670A>T p.R224W Substitution - Missense 7:122702081-122702081 - DLD1 COSM4625911 c.66T>C p.S22S Substitution - coding silent 7:122702685-122702685 - PT33 COSM5908796 c.659C>T p.S220F Substitution - Missense 7:122702092-122702092 - TCGA-D8-A1JN-01 COSM1488180 c.732C>T p.L244L Substitution - coding silent 7:122702019-122702019 - TCGA-EE-A2MR-06 COSM3632585 c.453C>G p.V151V Substitution - coding silent 7:122702298-122702298 - 66 COSM5743216 c.574A>G p.M192V Substitution - Missense 7:122702177-122702177 - TCGA-EE-A29S-06 COSM3632591 c.377G>A p.G126E Substitution - Missense 7:122702374-122702374 - TARGET-20-PARHVK-09A-01D COSM5487484 c.670A>T p.R224W Substitution - Missense 7:122702081-122702081 - TCGA-70-6722-01 COSM1150560 c.679C>G p.Q227E Substitution - Missense 7:122702072-122702072 - 2000756 COSM1644954 c.46T>C p.S16P Substitution - Missense 7:122702705-122702705 - TCGA-A2-A3Y0-01 COSM3831759 c.299C>A p.S100* Substitution - Nonsense 7:122702452-122702452 - TCGA-B7-5816-01 COSM3877686 c.628G>A p.V210I Substitution - Missense 7:122702123-122702123 - C008 COSM5523700 c.204G>A p.L68L Substitution - coding silent 7:122702547-122702547 - TCGA-AA-3672-01 COSM267342 c.815G>A p.R272H Substitution - Missense 7:122701936-122701936 - TCGA-BP-5004-01 COSM484715 c.609C>G p.A203A Substitution - coding silent 7:122702142-122702142 - Ad4 COSM4441048 c.489T>G p.I163M Substitution - Missense 7:122702262-122702262 - Pat_08_B COSM3632586 c.421C>T p.P141S Substitution - Missense 7:122702330-122702330 - TCGA-BP-5004-01 COSM1137623 c.609C>G p.A203A Substitution - coding silent 7:122702142-122702142 - YUOTHO COSM5406359 c.145G>A p.G49R Substitution - Missense 7:122702606-122702606 - TCGA-D3-A5GO-06 COSM3632598 c.156C>T p.I52I Substitution - coding silent 7:122702595-122702595 - ESCC_141 COSM5643612 c.464T>G p.I155R Substitution - Missense 7:122702287-122702287 - PD13311a COSM5790295 c.172G>T p.E58* Substitution - Nonsense 7:122702579-122702579 - 2290930 COSM4440119 c.414delA p.V139fs*12 Deletion - Frameshift 7:122702337-122702337 - 66 COSM5743217 c.574A>G p.M192V Substitution - Missense 7:122702177-122702177 - CSCC-11-T COSM4462508 c.124C>T p.L42L Substitution - coding silent 7:122702627-122702627 - PD17991a COSM5795541 c.747G>A p.E249E Substitution - coding silent 7:122702004-122702004 - ESCC_118 COSM5640350 c.658T>A p.S220T Substitution - Missense 7:122702093-122702093 - TCGA-60-2723-01 COSM1150558 c.860C>G p.P287R Substitution - Missense 7:122701891-122701891 - TCGA-D3-A5GO-06 COSM3632599 c.156C>T p.I52I Substitution - coding silent 7:122702595-122702595 - C008 COSM5523696 c.205G>A p.E69K Substitution - Missense 7:122702546-122702546 - HH14 COSM2767177 c.82A>G p.S28G Substitution - Missense 7:122702669-122702669 - ESO-859 COSM1240075 c.255C>A p.A85A Substitution - coding silent 7:122702496-122702496 - ESO-859 COSM1240076 c.255C>A p.A85A Substitution - coding silent 7:122702496-122702496 - TCGA-EE-A181-06 COSM3632586 c.421C>T p.P141S Substitution - Missense 7:122702330-122702330 - TCGA-AP-A059-01 COSM1596736 c.828C>T p.C276C Substitution - coding silent 7:122701923-122701923 - TCGA-BR-6452-01 COSM3877688 c.417A>T p.V139V Substitution - coding silent 7:122702334-122702334 - PT48 COSM5908797 c.659C>T p.S220F Substitution - Missense 7:122702092-122702092 - CSCC-38-T COSM4518303 c.59_60GG>AA p.R20K Substitution - Missense 7:122702691-122702692 - YUFIT COSM5406356 c.400G>A p.G134S Substitution - Missense 7:122702351-122702351 - TCGA-D1-A17M-01 COSM1154736 c.99C>T p.N33N Substitution - coding silent 7:122702652-122702652 - TCGA-D1-A16Y-01 COSM1596729 c.454G>A p.A152T Substitution - Missense 7:122702297-122702297 - 0110_CRUK_PC_0110_T1_DNA COSM5424008 c.367G>A p.G123R Substitution - Missense 7:122702384-122702384 - PASLZM COSM1596729 c.454G>A p.A152T Substitution - Missense 7:122702297-122702297 - HH14 COSM2767178 c.82A>G p.S28G Substitution - Missense 7:122702669-122702669 - TCGA-HU-A4GT-01 COSM3877691 c.319C>T p.R107C Substitution - Missense 7:122702432-122702432 - 422 COSM4432394 c.647G>C p.R216T Substitution - Missense 7:122702104-122702104 - TCGA-EE-A2GO-06 COSM3632580 c.801C>T p.P267P Substitution - coding silent 7:122701950-122701950 - TCGA-AA-3492-01 COSM1447656 c.869delT p.L290fs*1 Deletion - Frameshift 7:122701882-122701882 - CSCC-38-T COSM4518304 c.59_60GG>AA p.R20K Substitution - Missense 7:122702691-122702692 - tumor_4135099 COSM3928022 c.239G>T p.G80V Substitution - Missense 7:122702512-122702512 - YUFIT COSM5406355 c.400G>A p.G134S Substitution - Missense 7:122702351-122702351 - CNE1 COSM4997206 c.91G>A p.D31N Substitution - Missense 7:122702660-122702660 - TCGA-EE-A29S-06 COSM3632590 c.377G>A p.G126E Substitution - Missense 7:122702374-122702374 - TCGA-GN-A266-06 COSM3632595 c.174G>C p.E58D Substitution - Missense 7:122702577-122702577 - TCGA-UB-A7MB-01 COSM4931344 c.617A>G p.Y206C Substitution - Missense 7:122702134-122702134 - Au1 COSM5597500 c.484G>A p.E162K Substitution - Missense 7:122702267-122702267 - PCSI_0612_Pa_P_526 COSM5762049 c.109A>C p.I37L Substitution - Missense 7:122702642-122702642 - J10_T COSM3949845 c.337A>G p.T113A Substitution - Missense 7:122702414-122702414 - PT38 COSM5922647 c.422C>T p.P141L Substitution - Missense 7:122702329-122702329 - TCGA-70-6722-01 COSM744799 c.679C>G p.Q227E Substitution - Missense 7:122702072-122702072 - TCGA-EE-A2GO-06 COSM3632581 c.801C>T p.P267P Substitution - coding silent 7:122701950-122701950 - T42 COSM4877435 c.351C>T p.N117N Substitution - coding silent 7:122702400-122702400 - CSCC-29-T COSM4479483 c.232C>T p.P78S Substitution - Missense 7:122702519-122702519 - SJDOSTEOS005 COSM5760529 c.158C>G p.T53R Substitution - Missense 7:122702593-122702593 - TCGA-CA-6718-01 COSM1447660 c.316G>A p.E106K Substitution - Missense 7:122702435-122702435 - C0091T COSM4155394 c.880A>G p.T294A Substitution - Missense 7:122701871-122701871 - YUROG COSM5406361 c.101G>A p.G34E Substitution - Missense 7:122702650-122702650 - TCGA-AG-A002-01 COSM263367 c.728T>C p.V243A Substitution - Missense 7:122702023-122702023 - TCGA-66-2759-01 COSM1150561 c.399A>T p.Q133H Substitution - Missense 7:122702352-122702352 - Pat_08_B COSM3632587 c.421C>T p.P141S Substitution - Missense 7:122702330-122702330 - LIM2405 COSM1154736 c.99C>T p.N33N Substitution - coding silent 7:122702652-122702652 - ESCC_BICR_044T COSM5439957 c.29C>T p.T10M Substitution - Missense 7:122702722-122702722 - TCGA-D1-A17Q-01 COSM1596726 c.161C>T p.S54L Substitution - Missense 7:122702590-122702590 - TCGA-A8-A0A6-01 COSM3831754 c.458T>G p.V153G Substitution - Missense 7:122702293-122702293 - TCGA-BR-8360-01 COSM3877692 c.135A>T p.T45T Substitution - coding silent 7:122702616-122702616 - BD124T COSM1596724 c.30G>A p.T10T Substitution - coding silent 7:122702721-122702721 - TCGA-33-4566-01 COSM744800 c.742G>A p.D248N Substitution - Missense 7:122702009-122702009 - TCGA-GN-A265-06 COSM3632583 c.565C>A p.H189N Substitution - Missense 7:122702186-122702186 - LN18 COSM5712428 c.843T>G p.H281Q Substitution - Missense 7:122701908-122701908 - TCGA-G2-A3VY-01 COSM3778066 c.73C>G p.L25V Substitution - Missense 7:122702678-122702678 - TCGA-D1-A16Y-01 COSM1596728 c.454G>A p.A152T Substitution - Missense 7:122702297-122702297 - J10_T COSM3949844 c.337A>G p.T113A Substitution - Missense 7:122702414-122702414 - TCGA-D1-A160-01 COSM1596731 c.555G>A p.Q185Q Substitution - coding silent 7:122702196-122702196 - TCGA-HU-A4H8-01 COSM3877684 c.744T>C p.D248D Substitution - coding silent 7:122702007-122702007 - TCGA-D8-A1JT-01 COSM1488182 c.366G>T p.K122N Substitution - Missense 7:122702385-122702385 - TCGA-BS-A0UV-01 COSM1596725 c.30G>A p.T10T Substitution - coding silent 7:122702721-122702721 - Pat_76_A COSM3632587 c.421C>T p.P141S Substitution - Missense 7:122702330-122702330 - Pat_08_A COSM3632587 c.421C>T p.P141S Substitution - Missense 7:122702330-122702330 - TCGA-B5-A0JR-01 COSM1154735 c.380T>C p.V127A Substitution - Missense 7:122702371-122702371 - TCGA-G4-6588-01 COSM1154736 c.99C>T p.N33N Substitution - coding silent 7:122702652-122702652 - T3080 COSM4722004 c.441G>A p.T147T Substitution - coding silent 7:122702310-122702310 - TCGA-EL-A3ZK-01 COSM2767162 c.352G>A p.V118M Substitution - Missense 7:122702399-122702399 - RK165_C01 COSM1635088 c.459G>C p.V153V Substitution - coding silent 7:122702292-122702292 - 2492729 COSM5727569 c.609C>T p.A203A Substitution - coding silent 7:122702142-122702142 - TCGA-UB-A7MB-01 COSM4931343 c.617A>G p.Y206C Substitution - Missense 7:122702134-122702134 - YUOTHO COSM5406353 c.653C>A p.P218H Substitution - Missense 7:122702098-122702098 - C086 COSM3632587 c.421C>T p.P141S Substitution - Missense 7:122702330-122702330 - EGC15 COSM5062147 c.467G>T p.S156I Substitution - Missense 7:122702284-122702284 - PT33 COSM5908797 c.659C>T p.S220F Substitution - Missense 7:122702092-122702092 - C0091T COSM4155395 c.880A>G p.T294A Substitution - Missense 7:122701871-122701871 - YUPAER COSM5406357 c.168A>C p.L56F Substitution - Missense 7:122702583-122702583 - TCGA-D3-A1Q6-06 COSM3632588 c.405G>T p.T135T Substitution - coding silent 7:122702346-122702346 - C008 COSM5523698 c.44C>T p.S15L Substitution - Missense 7:122702707-122702707 - TCGA-BF-A1PV-01 COSM3632596 c.163G>A p.E55K Substitution - Missense 7:122702588-122702588 - RK165_C01 COSM1635087 c.459G>C p.V153V Substitution - coding silent 7:122702292-122702292 - TCGA-EE-A181-06 COSM3632587 c.421C>T p.P141S Substitution - Missense 7:122702330-122702330 - TCGA-D3-A1Q5-06 COSM3632602 c.49G>A p.G17R Substitution - Missense 7:122702702-122702702 - CSCC-10-T COSM4517730 c.405_406GG>AA p.G136S Substitution - Missense 7:122702345-122702346 - CHEWS027 COSM4587082 c.45A>G p.S15S Substitution - coding silent 7:122702706-122702706 - ESCC_BICR_044T COSM5439956 c.29C>T p.T10M Substitution - Missense 7:122702722-122702722 - TCGA-B5-A0JR-01 COSM1154734 c.380T>C p.V127A Substitution - Missense 7:122702371-122702371 - LIM2405 COSM1154737 c.99C>T p.N33N Substitution - coding silent 7:122702652-122702652 - TCGA-B7-5818-01 COSM3877694 c.127A>C p.N43H Substitution - Missense 7:122702624-122702624 - TCGA-AU-6004-01 COSM267342 c.815G>A p.R272H Substitution - Missense 7:122701936-122701936 - TCGA-BF-A1PV-01 COSM3632597 c.163G>A p.E55K Substitution - Missense 7:122702588-122702588 - YUPAER COSM5406358 c.168A>C p.L56F Substitution - Missense 7:122702583-122702583 - TCGA-29-1783-01 COSM1330125 c.784T>A p.F262I Substitution - Missense 7:122701967-122701967 - PT37 COSM5919431 c.436G>A p.G146R Substitution - Missense 7:122702315-122702315 - TCGA-EE-A2MR-06 COSM3632584 c.453C>G p.V151V Substitution - coding silent 7:122702298-122702298 - 244-05-1TD COSM5417128 c.543A>G p.R181R Substitution - coding silent 7:122702208-122702208 - TCGA-66-2759-01 COSM744798 c.399A>T p.Q133H Substitution - Missense 7:122702352-122702352 - TCGA-AX-A0J0-01 COSM1447660 c.316G>A p.E106K Substitution - Missense 7:122702435-122702435 - CSCC-10-T COSM4517731 c.405_406GG>AA p.G136S Substitution - Missense 7:122702345-122702346 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.675158;Hs.675159;Hs.675160;Hs.675161;Hs.675162;Hs.675163;Hs.675165;Hs.675166;Hs.675169;Hs.675170;Hs.675171;Hs.675172;Hs.675173;Hs.675174;Hs.675175;Hs.675176;Hs.675177;Hs.675178;Hs.675179;Hs.675180;Hs.675182;Hs.675183;Hs.675185;Hs.675186;Hs.675188;Hs.675189;Hs.675190;Hs.675191 7q31.33

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.V127A c.380T>C 7 122342425 UCEC A T Missense p.S66T c.196T>A 7 122342609 LUAD C A Missense p.K122N c.366G>T 7 122342439 BRCA C - Frameshift p.N64Ifs*26 c.189delG 7 122342616 LUSC C G Missense p.G63A c.188G>C 7 122342617 HC C T Missense p.A152T c.454G>A 7 122342351 HNSC C T Missense p.A152T c.454G>A 7 122342351 UCEC C T Missense p.E55K c.163G>A 7 122342642 CM C T Missense p.G126E c.377G>A 7 122342428 CM C T Missense p.G17R c.49G>A 7 122342756 CM C T Missense p.G34E c.101G>A 7 122342704 CM C T Missense p.G34R c.100G>A 7 122342705 GBM C T Missense p.R272H c.815G>A 7 122341990 STAD C T Missense p.S12N c.35G>A 7 122342770 COREAD C T Missense p.V210I c.628G>A 7 122342177 STAD G A Missense p.A152V c.455C>T 7 122342350 HNSC G A Missense p.P141S c.421C>T 7 122342384 CM G C Missense p.P287R c.860C>G 7 122341945 LUSC G C Missense p.Q227E c.679C>G 7 122342126 LUSC GG AA Missense p.L4F c.9_10delinsTT 7 122342795 CM G T Missense p.P8H c.23C>A 7 122342782 MM T A Missense p.Q133H c.399A>T 7 122342406 LUSC T A Nonsense p.R216* c.646A>T 7 122342159 LUAD T C Missense p.I302V c.904A>G 7 122341901 HNSC T G Missense p.N43H c.127A>C 7 122342678 STAD TTGGTCAAAG - Frameshift p.P88Lfs*37 c.263_272delCTTTGACCAA 7 122342533 CM