Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 7 134871775 134871775 + Silent SNP C C T TCGA-OR-A5JP-01A-11D-A29I-10 TCGA-OR-A5JP-10A-01D-A29L-10 g.chr7:134871775C>T c.2028G>A c.(2026-2028)tcG>tcA p.S676S BLCA 7 134873230 134873230 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr7:134873230G>A c.1836C>T c.(1834-1836)ttC>ttT p.F612F BLCA 7 134873240 134873240 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr7:134873240G>A c.1826C>T c.(1825-1827)tCt>tTt p.S609F BLCA 7 134874169 134874169 + Missense_Mutation SNP G G C TCGA-GU-AATQ-01A-11D-A391-08 TCGA-GU-AATQ-10A-01D-A394-08 g.chr7:134874169G>C c.1695C>G c.(1693-1695)atC>atG p.I565M BLCA 7 134878389 134878389 + Silent SNP G G C TCGA-XF-AAMW-01A-11D-A42E-08 TCGA-XF-AAMW-10A-01D-A42H-08 g.chr7:134878389G>C c.1431C>G c.(1429-1431)ctC>ctG p.L477L BLCA 7 134881081 134881081 + Silent SNP C C T TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr7:134881081C>T c.1059G>A c.(1057-1059)gaG>gaA p.E353E BLCA 7 134882828 134882828 + Missense_Mutation SNP A A T TCGA-XF-A9T6-01A-11D-A42E-08 TCGA-XF-A9T6-10A-01D-A42H-08 g.chr7:134882828A>T c.967T>A c.(967-969)Tcc>Acc p.S323T BLCA 7 134891901 134891901 + Missense_Mutation SNP G G C TCGA-XF-AAN5-01A-11D-A42E-08 TCGA-XF-AAN5-10A-01D-A42H-08 g.chr7:134891901G>C c.565C>G c.(565-567)Caa>Gaa p.Q189E BLCA 7 134891917 134891917 + Silent SNP C C T TCGA-DK-AA6R-01A-11D-A42E-08 TCGA-DK-AA6R-10A-01D-A42H-08 g.chr7:134891917C>T c.549G>A c.(547-549)caG>caA p.Q183Q BLCA 7 134893697 134893697 + Silent SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 g.chr7:134893697G>C c.357C>G c.(355-357)ctC>ctG p.L119L BLCA 7 134894412 134894412 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr7:134894412G>A c.219C>T c.(217-219)ttC>ttT p.F73F BRCA 7 134871826 134871826 + Silent SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 g.chr7:134871826G>A c.1977C>T c.(1975-1977)agC>agT p.S659S BRCA 7 134889109 134889109 + Frame_Shift_Del DEL G G - TCGA-AO-A1KS-01A-11D-A13L-09 TCGA-AO-A1KS-10A-01W-A14R-09 g.chr7:134889109delG c.802delC c.(802-804)cagfs p.Q268fs BRCA 7 134890683 134890683 + Missense_Mutation SNP T T C TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-10A-01W-A021-09 g.chr7:134890683T>C c.722A>G c.(721-723)gAa>gGa p.E241G BRCA 7 134890705 134890705 + Missense_Mutation SNP T T C TCGA-A1-A0SE-01A-11D-A099-09 TCGA-A1-A0SE-10A-03D-A099-09 g.chr7:134890705T>C c.700A>G c.(700-702)Atg>Gtg p.M234V CESC 7 134880995 134880995 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 g.chr7:134880995G>A c.1145C>T c.(1144-1146)tCg>tTg p.S382L COAD 7 134870950 134870950 + Missense_Mutation SNP T T C TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr7:134870950T>C c.2197A>G c.(2197-2199)Atg>Gtg p.M733V COAD 7 134870954 134870954 + Silent SNP G G C TCGA-CA-6715-01A-21D-1835-10 TCGA-CA-6715-10A-01D-1835-10 g.chr7:134870954G>C c.2193C>G c.(2191-2193)gcC>gcG p.A731A COAD 7 134870985 134870985 + Missense_Mutation SNP G G T TCGA-AA-A00Z-01A-01W-A005-10 TCGA-AA-A00Z-10A-01W-A005-10 g.chr7:134870985G>T c.2162C>A c.(2161-2163)aCt>aAt p.T721N COAD 7 134871020 134871020 + Silent SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr7:134871020G>A c.2127C>T c.(2125-2127)ggC>ggT p.G709G COAD 7 134873275 134873275 + Silent SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr7:134873275C>T c.1791G>A c.(1789-1791)gcG>gcA p.A597A COAD 7 134878343 134878343 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:134878343C>T c.1477G>A c.(1477-1479)Gac>Aac p.D493N COAD 7 134882846 134882846 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr7:134882846C>T c.949G>A c.(949-951)Ggg>Agg p.G317R COAD 7 134889048 134889048 + Missense_Mutation SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr7:134889048G>A c.863C>T c.(862-864)tCg>tTg p.S288L COAD 7 134889147 134889147 + Missense_Mutation SNP T T C TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr7:134889147T>C c.764A>G c.(763-765)cAg>cGg p.Q255R COAD 7 134890690 134890690 + Frame_Shift_Del DEL C C - TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr7:134890690delC c.715delG c.(715-717)gacfs p.D239fs COAD 7 134890782 134890782 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr7:134890782C>T c.623G>A c.(622-624)cGa>cAa p.R208Q COAD 7 134891927 134891927 + Missense_Mutation SNP G G A TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr7:134891927G>A c.539C>T c.(538-540)gCg>gTg p.A180V COAD 7 134893598 134893598 + Silent SNP A A G TCGA-CM-6170-01A-11D-1650-10 TCGA-CM-6170-10A-01D-1650-10 g.chr7:134893598A>G c.456T>C c.(454-456)gcT>gcC p.A152A COAD 7 134894382 134894382 + Silent SNP T T C TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr7:134894382T>C c.249A>G c.(247-249)acA>acG p.T83T COAD 7 134894467 134894467 + Missense_Mutation SNP A A G TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr7:134894467A>G c.164T>C c.(163-165)gTg>gCg p.V55A COAD 7 134896162 134896162 + Silent SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr7:134896162C>T c.93G>A c.(91-93)gaG>gaA p.E31E COADREAD 7 134870950 134870950 + Missense_Mutation SNP T T C TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr7:134870950T>C c.2197A>G c.(2197-2199)Atg>Gtg p.M733V COADREAD 7 134870954 134870954 + Silent SNP G G C TCGA-CA-6715-01A-21D-1835-10 TCGA-CA-6715-10A-01D-1835-10 g.chr7:134870954G>C c.2193C>G c.(2191-2193)gcC>gcG p.A731A COADREAD 7 134870985 134870985 + Missense_Mutation SNP G G T TCGA-AA-A00Z-01A-01W-A005-10 TCGA-AA-A00Z-10A-01W-A005-10 g.chr7:134870985G>T c.2162C>A c.(2161-2163)aCt>aAt p.T721N COADREAD 7 134871020 134871020 + Silent SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr7:134871020G>A c.2127C>T c.(2125-2127)ggC>ggT p.G709G COADREAD 7 134873275 134873275 + Silent SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr7:134873275C>T c.1791G>A c.(1789-1791)gcG>gcA p.A597A COADREAD 7 134878343 134878343 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:134878343C>T c.1477G>A c.(1477-1479)Gac>Aac p.D493N COADREAD 7 134881005 134881005 + Missense_Mutation SNP G G A TCGA-AG-3599-01A-02W-0833-10 TCGA-AG-3599-10A-01W-0833-10 g.chr7:134881005G>A c.1135C>T c.(1135-1137)Cgg>Tgg p.R379W COADREAD 7 134882846 134882846 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr7:134882846C>T c.949G>A c.(949-951)Ggg>Agg p.G317R COADREAD 7 134889048 134889048 + Missense_Mutation SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr7:134889048G>A c.863C>T c.(862-864)tCg>tTg p.S288L COADREAD 7 134889139 134889139 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:134889139G>A c.772C>T c.(772-774)Cgt>Tgt p.R258C COADREAD 7 134889147 134889147 + Missense_Mutation SNP T T C TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr7:134889147T>C c.764A>G c.(763-765)cAg>cGg p.Q255R COADREAD 7 134890690 134890690 + Frame_Shift_Del DEL C C - TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr7:134890690delC c.715delG c.(715-717)gacfs p.D239fs COADREAD 7 134890782 134890782 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr7:134890782C>T c.623G>A c.(622-624)cGa>cAa p.R208Q COADREAD 7 134891927 134891927 + Missense_Mutation SNP G G A TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr7:134891927G>A c.539C>T c.(538-540)gCg>gTg p.A180V COADREAD 7 134893598 134893598 + Silent SNP A A G TCGA-CM-6170-01A-11D-1650-10 TCGA-CM-6170-10A-01D-1650-10 g.chr7:134893598A>G c.456T>C c.(454-456)gcT>gcC p.A152A COADREAD 7 134894382 134894382 + Silent SNP T T C TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr7:134894382T>C c.249A>G c.(247-249)acA>acG p.T83T COADREAD 7 134894467 134894467 + Missense_Mutation SNP A A G TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr7:134894467A>G c.164T>C c.(163-165)gTg>gCg p.V55A COADREAD 7 134896162 134896162 + Silent SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr7:134896162C>T c.93G>A c.(91-93)gaG>gaA p.E31E ESCA 7 134878362 134878362 + Silent SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 g.chr7:134878362G>A c.1458C>T c.(1456-1458)ctC>ctT p.L486L ESCA 7 134882799 134882799 + Silent SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 g.chr7:134882799G>T c.996C>A c.(994-996)cgC>cgA p.R332R ESCA 7 134891942 134891942 + Missense_Mutation SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 g.chr7:134891942A>G c.524T>C c.(523-525)aTc>aCc p.I175T GBM 7 134874110 134874110 + Missense_Mutation SNP A A G TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 g.chr7:134874110A>G c.1754T>C c.(1753-1755)gTc>gCc p.V585A GBM 7 134878049 134878049 + Silent SNP G G T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 g.chr7:134878049G>T c.1593C>A c.(1591-1593)ggC>ggA p.G531G GBMLGG 7 134874110 134874110 + Missense_Mutation SNP A A G TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 g.chr7:134874110A>G c.1754T>C c.(1753-1755)gTc>gCc p.V585A GBMLGG 7 134878049 134878049 + Silent SNP G G T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 g.chr7:134878049G>T c.1593C>A c.(1591-1593)ggC>ggA p.G531G GBMLGG 7 134891927 134891927 + Missense_Mutation SNP G G A TCGA-S9-A7QY-01A-11D-A34A-08 TCGA-S9-A7QY-10A-01D-A34A-08 g.chr7:134891927G>A c.539C>T c.(538-540)gCg>gTg p.A180V HNSC 7 134878065 134878065 + Missense_Mutation SNP G G A TCGA-CN-A497-01A-11D-A24D-08 TCGA-CN-A497-10A-01D-A24F-08 g.chr7:134878065G>A c.1577C>T c.(1576-1578)tCa>tTa p.S526L HNSC 7 134878366 134878366 + Missense_Mutation SNP T T G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 g.chr7:134878366T>G c.1454A>C c.(1453-1455)aAt>aCt p.N485T HNSC 7 134889075 134889075 + Missense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 g.chr7:134889075G>A c.836C>T c.(835-837)gCt>gTt p.A279V HNSC 7 134893687 134893687 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 g.chr7:134893687C>T c.367G>A c.(367-369)Gct>Act p.A123T KIPAN 7 134871027 134871027 + Missense_Mutation SNP A A T TCGA-A4-7584-01A-11D-2136-08 TCGA-A4-7584-10A-01D-2136-08 g.chr7:134871027A>T c.2120T>A c.(2119-2121)cTa>cAa p.L707Q KIPAN 7 134873248 134873248 + Silent SNP C C T TCGA-A4-8311-01A-11D-2396-08 TCGA-A4-8311-10A-01D-2396-08 g.chr7:134873248C>T c.1818G>A c.(1816-1818)gaG>gaA p.E606E KIPAN 7 134889161 134889161 + Silent SNP A A G TCGA-CJ-6033-01A-11D-1669-08 TCGA-CJ-6033-11A-01D-1669-08 g.chr7:134889161A>G c.750T>C c.(748-750)aaT>aaC p.N250N KIPAN 7 134890789 134890789 + Frame_Shift_Del DEL T T - TCGA-2Z-A9JL-01A-11D-A42J-10 TCGA-2Z-A9JL-10A-01D-A42M-10 g.chr7:134890789delT c.616delA c.(616-618)atcfs p.I206fs KIPAN 7 134891906 134891906 + Missense_Mutation SNP T T A TCGA-CZ-5986-01A-11D-1669-08 TCGA-CZ-5986-11A-01D-1669-08 g.chr7:134891906T>A c.560A>T c.(559-561)cAg>cTg p.Q187L KIPAN 7 134893687 134893687 + Missense_Mutation SNP C C A TCGA-MH-A562-01A-11D-A26P-10 TCGA-MH-A562-10A-01D-A26P-10 g.chr7:134893687C>A c.367G>T c.(367-369)Gct>Tct p.A123S KIRC 7 134889161 134889161 + Silent SNP A A G TCGA-CJ-6033-01A-11D-1669-08 TCGA-CJ-6033-11A-01D-1669-08 g.chr7:134889161A>G c.750T>C c.(748-750)aaT>aaC p.N250N KIRC 7 134891906 134891906 + Missense_Mutation SNP T T A TCGA-CZ-5986-01A-11D-1669-08 TCGA-CZ-5986-11A-01D-1669-08 g.chr7:134891906T>A c.560A>T c.(559-561)cAg>cTg p.Q187L KIRP 7 134871027 134871027 + Missense_Mutation SNP A A T TCGA-A4-7584-01A-11D-2136-08 TCGA-A4-7584-10A-01D-2136-08 g.chr7:134871027A>T c.2120T>A c.(2119-2121)cTa>cAa p.L707Q KIRP 7 134873248 134873248 + Silent SNP C C T TCGA-A4-8311-01A-11D-2396-08 TCGA-A4-8311-10A-01D-2396-08 g.chr7:134873248C>T c.1818G>A c.(1816-1818)gaG>gaA p.E606E KIRP 7 134890789 134890789 + Frame_Shift_Del DEL T T - TCGA-2Z-A9JL-01A-11D-A42J-10 TCGA-2Z-A9JL-10A-01D-A42M-10 g.chr7:134890789delT c.616delA c.(616-618)atcfs p.I206fs KIRP 7 134893687 134893687 + Missense_Mutation SNP C C A TCGA-MH-A562-01A-11D-A26P-10 TCGA-MH-A562-10A-01D-A26P-10 g.chr7:134893687C>A c.367G>T c.(367-369)Gct>Tct p.A123S LGG 7 134891927 134891927 + Missense_Mutation SNP G G A TCGA-S9-A7QY-01A-11D-A34A-08 TCGA-S9-A7QY-10A-01D-A34A-08 g.chr7:134891927G>A c.539C>T c.(538-540)gCg>gTg p.A180V LIHC 7 134870994 134870994 + Missense_Mutation SNP T T C TCGA-DD-A3A1-01A-11D-A20W-10 TCGA-DD-A3A1-11A-11D-A20W-10 g.chr7:134870994T>C c.2153A>G c.(2152-2154)gAc>gGc p.D718G LIHC 7 134874129 134874129 + Missense_Mutation SNP T T C TCGA-DD-AAD6-01A-11D-A40R-10 TCGA-DD-AAD6-10A-01D-A40U-10 g.chr7:134874129T>C c.1735A>G c.(1735-1737)Aca>Gca p.T579A LIHC 7 134894482 134894482 + Missense_Mutation SNP T T A TCGA-DD-AACL-01A-11D-A40R-10 TCGA-DD-AACL-10A-01D-A40U-10 g.chr7:134894482T>A c.149A>T c.(148-150)cAg>cTg p.Q50L LIHC 7 134896232 134896232 + Missense_Mutation SNP G G A TCGA-2Y-A9GZ-01A-11D-A38X-10 TCGA-2Y-A9GZ-10A-01D-A38X-10 g.chr7:134896232G>A c.23C>T c.(22-24)aCt>aTt p.T8I LUAD 7 134870995 134870996 + Frame_Shift_Ins INS - - CACGGTGACCACAGGGG TCGA-05-4250-01A-01D-1105-08 TCGA-05-4250-10A-01D-1105-08 g.chr7:134870995_134870996insCACGGTGACCACAGGGG c.2151_2152insCCCCTGTGGTCACCGTG c.(2149-2154)gtggacfs p.D718fs LUAD 7 134873250 134873250 + Frame_Shift_Del DEL C C - TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr7:134873250delC c.1816delG c.(1816-1818)gagfs p.E606fs LUAD 7 134873253 134873253 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 g.chr7:134873253C>A c.1813G>T c.(1813-1815)Ggg>Tgg p.G605W LUAD 7 134878404 134878404 + Silent SNP C C A TCGA-95-A4VN-01A-11D-A25L-08 TCGA-95-A4VN-10A-01D-A25L-08 g.chr7:134878404C>A c.1416G>T c.(1414-1416)gtG>gtT p.V472V LUAD 7 134879797 134879797 + Silent SNP T T A TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr7:134879797T>A c.1284A>T c.(1282-1284)gtA>gtT p.V428V LUAD 7 134879799 134879799 + Missense_Mutation SNP C C G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 g.chr7:134879799C>G c.1282G>C c.(1282-1284)Gta>Cta p.V428L LUAD 7 134881057 134881057 + Silent SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 g.chr7:134881057T>A c.1083A>T c.(1081-1083)ccA>ccT p.P361P LUAD 7 134889090 134889090 + Nonsense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr7:134889090G>C c.821C>G c.(820-822)tCa>tGa p.S274* LUAD 7 134896244 134896244 + Missense_Mutation SNP G G A TCGA-44-3919-01A-02D-1458-08 TCGA-44-3919-10A-01D-1458-08 g.chr7:134896244G>A c.11C>T c.(10-12)gCc>gTc p.A4V LUSC 7 134873261 134873261 + Missense_Mutation SNP G G C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr7:134873261G>C c.1805C>G c.(1804-1806)gCc>gGc p.A602G LUSC 7 134878009 134878009 + Missense_Mutation SNP A A G TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 g.chr7:134878009A>G c.1633T>C c.(1633-1635)Tgg>Cgg p.W545R LUSC 7 134881005 134881005 + Silent SNP G G T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 g.chr7:134881005G>T c.1135C>A c.(1135-1137)Cgg>Agg p.R379R LUSC 7 134890724 134890724 + Missense_Mutation SNP C C A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 g.chr7:134890724C>A c.681G>T c.(679-681)ttG>ttT p.L227F LUSC 7 134890753 134890753 + Missense_Mutation SNP C C G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 g.chr7:134890753C>G c.652G>C c.(652-654)Gag>Cag p.E218Q LUSC 7 134890771 134890771 + Missense_Mutation SNP C C T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 g.chr7:134890771C>T c.634G>A c.(634-636)Gag>Aag p.E212K OV 7 134880941 134880941 + Missense_Mutation SNP C C G TCGA-24-1551-01A-01W-0551-08 TCGA-24-1551-10A-01W-0551-08 g.chr7:134880941C>G c.1199G>C c.(1198-1200)gGa>gCa p.G400A OV 7 134893552 134893552 + Missense_Mutation SNP G G T TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 g.chr7:134893552G>T c.502C>A c.(502-504)Cag>Aag p.Q168K PRAD 7 134889022 134889022 + Nonsense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr7:134889022G>A c.889C>T c.(889-891)Cag>Tag p.Q297* READ 7 134881005 134881005 + Missense_Mutation SNP G G A TCGA-AG-3599-01A-02W-0833-10 TCGA-AG-3599-10A-01W-0833-10 g.chr7:134881005G>A c.1135C>T c.(1135-1137)Cgg>Tgg p.R379W READ 7 134889139 134889139 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:134889139G>A c.772C>T c.(772-774)Cgt>Tgt p.R258C SKCM 7 134871868 134871868 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 g.chr7:134871868G>A c.1935C>T c.(1933-1935)ctC>ctT p.L645L SKCM 7 134878080 134878080 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr7:134878080G>A c.1562C>T c.(1561-1563)tCc>tTc p.S521F SKCM 7 134878093 134878093 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 g.chr7:134878093G>A c.1549C>T c.(1549-1551)Ccg>Tcg p.P517S SKCM 7 134889048 134889048 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 g.chr7:134889048G>A c.863C>T c.(862-864)tCg>tTg p.S288L SKCM 7 134889048 134889048 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr7:134889048G>A c.863C>T c.(862-864)tCg>tTg p.S288L SKCM 7 134890719 134890719 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:134890719G>A c.686C>T c.(685-687)cCt>cTt p.P229L SKCM 7 134890723 134890723 + Missense_Mutation SNP G G T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr7:134890723G>T c.682C>A c.(682-684)Cct>Act p.P228T SKCM 7 134891950 134891950 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 g.chr7:134891950G>A c.516C>T c.(514-516)gtC>gtT p.V172V SKCM 7 134894380 134894381 + Frame_Shift_Ins INS - - T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr7:134894380_134894381insT c.250_251insA c.(250-252)atcfs p.I84fs

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 7 134879729 134879729 single base substitution G A downstream_gene_variant BLCA-CN 7 134879729 134879729 single base substitution G A exon_variant BLCA-CN 7 134879729 134879729 single base substitution G A missense_variant S416L 1247C>T BLCA-CN 7 134879729 134879729 single base substitution G A missense_variant S451L 1352C>T BLCA-CN 7 134879729 134879729 single base substitution G A upstream_gene_variant BLCA-CN 7 134889055 134889055 single base substitution G A exon_variant BLCA-CN 7 134889055 134889055 single base substitution G A stop_gained Q251* 751C>T BLCA-CN 7 134889055 134889055 single base substitution G A stop_gained Q286* 856C>T BLCA-US 7 134873230 134873230 single base substitution G A downstream_gene_variant BLCA-US 7 134873230 134873230 single base substitution G A exon_variant BLCA-US 7 134873230 134873230 single base substitution G A intron_variant BLCA-US 7 134873230 134873230 single base substitution G A synonymous_variant F577F 1731C>T BLCA-US 7 134873230 134873230 single base substitution G A synonymous_variant F612F 1836C>T BLCA-US 7 134873240 134873240 single base substitution G A downstream_gene_variant BLCA-US 7 134873240 134873240 single base substitution G A exon_variant BLCA-US 7 134873240 134873240 single base substitution G A intron_variant BLCA-US 7 134873240 134873240 single base substitution G A missense_variant S574F 1721C>T BLCA-US 7 134873240 134873240 single base substitution G A missense_variant S609F 1826C>T BLCA-US 7 134894412 134894412 single base substitution G A exon_variant BLCA-US 7 134894412 134894412 single base substitution G A synonymous_variant F38F 114C>T BLCA-US 7 134894412 134894412 single base substitution G A synonymous_variant F73F 219C>T BLCA-US 7 134894412 134894412 single base substitution G A upstream_gene_variant BRCA-EU 7 134863949 134863949 single base substitution G C downstream_gene_variant BRCA-EU 7 134866153 134866153 single base substitution C G downstream_gene_variant BRCA-EU 7 134866649 134866649 single base substitution G A downstream_gene_variant BRCA-EU 7 134869415 134869415 single base substitution T C 3_prime_UTR_variant BRCA-EU 7 134869415 134869415 single base substitution T C downstream_gene_variant BRCA-EU 7 134870290 134870290 single base substitution C T 3_prime_UTR_variant BRCA-EU 7 134870290 134870290 single base substitution C T downstream_gene_variant BRCA-EU 7 134871159 134871159 single base substitution G C downstream_gene_variant BRCA-EU 7 134871159 134871159 single base substitution G C intron_variant BRCA-EU 7 134871271 134871271 single base substitution C G downstream_gene_variant BRCA-EU 7 134871271 134871271 single base substitution C G intron_variant BRCA-EU 7 134874017 134874017 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 134874017 134874017 deletion of <=200bp A - intron_variant BRCA-EU 7 134874416 134874416 single base substitution T G downstream_gene_variant BRCA-EU 7 134874416 134874416 single base substitution T G intron_variant BRCA-EU 7 134874839 134874839 single base substitution G C downstream_gene_variant BRCA-EU 7 134874839 134874839 single base substitution G C intron_variant BRCA-EU 7 134874957 134874957 single base substitution A G downstream_gene_variant BRCA-EU 7 134874957 134874957 single base substitution A G intron_variant BRCA-EU 7 134876066 134876066 single base substitution A T downstream_gene_variant BRCA-EU 7 134876066 134876066 single base substitution A T intron_variant BRCA-EU 7 134878271 134878271 single base substitution C G downstream_gene_variant BRCA-EU 7 134878271 134878271 single base substitution C G exon_variant BRCA-EU 7 134878271 134878271 single base substitution C G intron_variant BRCA-EU 7 134878618 134878618 single base substitution G C downstream_gene_variant BRCA-EU 7 134878618 134878618 single base substitution G C exon_variant BRCA-EU 7 134878618 134878618 single base substitution G C intron_variant BRCA-EU 7 134878618 134878618 single base substitution G C upstream_gene_variant BRCA-EU 7 134878868 134878868 single base substitution G C downstream_gene_variant BRCA-EU 7 134878868 134878868 single base substitution G C intron_variant BRCA-EU 7 134878868 134878868 single base substitution G C upstream_gene_variant BRCA-EU 7 134878888 134878888 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 134878888 134878888 deletion of <=200bp A - intron_variant BRCA-EU 7 134878888 134878888 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 134879224 134879224 single base substitution T A downstream_gene_variant BRCA-EU 7 134879224 134879224 single base substitution T A intron_variant BRCA-EU 7 134879224 134879224 single base substitution T A upstream_gene_variant BRCA-EU 7 134880618 134880618 single base substitution G C downstream_gene_variant BRCA-EU 7 134880618 134880618 single base substitution G C intron_variant BRCA-EU 7 134880618 134880618 single base substitution G C upstream_gene_variant BRCA-EU 7 134880911 134880911 single base substitution G C downstream_gene_variant BRCA-EU 7 134880911 134880911 single base substitution G C exon_variant BRCA-EU 7 134880911 134880911 single base substitution G C missense_variant S375C 1124C>G BRCA-EU 7 134880911 134880911 single base substitution G C missense_variant S410C 1229C>G BRCA-EU 7 134880911 134880911 single base substitution G C upstream_gene_variant BRCA-EU 7 134881604 134881604 single base substitution G C intron_variant BRCA-EU 7 134881604 134881604 single base substitution G C upstream_gene_variant BRCA-EU 7 134881907 134881907 insertion of <=200bp - A exon_variant BRCA-EU 7 134881907 134881907 insertion of <=200bp - A intron_variant BRCA-EU 7 134881907 134881907 insertion of <=200bp - A upstream_gene_variant BRCA-EU 7 134882148 134882148 single base substitution C T exon_variant BRCA-EU 7 134882148 134882148 single base substitution C T intron_variant BRCA-EU 7 134882148 134882148 single base substitution C T upstream_gene_variant BRCA-EU 7 134882987 134882987 deletion of <=200bp G - intron_variant BRCA-EU 7 134882987 134882987 deletion of <=200bp G - upstream_gene_variant BRCA-EU 7 134883719 134883719 single base substitution G A intron_variant BRCA-EU 7 134883719 134883719 single base substitution G A upstream_gene_variant BRCA-EU 7 134884986 134884986 single base substitution A T intron_variant BRCA-EU 7 134884986 134884986 single base substitution A T upstream_gene_variant BRCA-EU 7 134885670 134885670 single base substitution C T intron_variant BRCA-EU 7 134885670 134885670 single base substitution C T upstream_gene_variant BRCA-EU 7 134886227 134886227 single base substitution A T intron_variant BRCA-EU 7 134886227 134886227 single base substitution A T upstream_gene_variant BRCA-EU 7 134886758 134886758 single base substitution G A intron_variant BRCA-EU 7 134886758 134886758 single base substitution G A upstream_gene_variant BRCA-EU 7 134886933 134886933 single base substitution G T intron_variant BRCA-EU 7 134886933 134886933 single base substitution G T upstream_gene_variant BRCA-EU 7 134887127 134887127 single base substitution G C intron_variant BRCA-EU 7 134889073 134889073 single base substitution G A exon_variant BRCA-EU 7 134889073 134889073 single base substitution G A stop_gained Q245* 733C>T BRCA-EU 7 134889073 134889073 single base substitution G A stop_gained Q280* 838C>T BRCA-EU 7 134889290 134889290 single base substitution G T intron_variant BRCA-EU 7 134889980 134889980 single base substitution G A intron_variant BRCA-EU 7 134890615 134890615 single base substitution G C intron_variant BRCA-EU 7 134892290 134892290 single base substitution G C intron_variant BRCA-EU 7 134892290 134892290 single base substitution G C upstream_gene_variant BRCA-EU 7 134893319 134893319 single base substitution C T intron_variant BRCA-EU 7 134893319 134893319 single base substitution C T upstream_gene_variant BRCA-EU 7 134893788 134893788 single base substitution G T intron_variant BRCA-EU 7 134893788 134893788 single base substitution G T upstream_gene_variant BRCA-EU 7 134894146 134894146 single base substitution G A intron_variant BRCA-EU 7 134894146 134894146 single base substitution G A upstream_gene_variant BRCA-EU 7 134894725 134894725 single base substitution C A intron_variant BRCA-EU 7 134894725 134894725 single base substitution C A upstream_gene_variant BRCA-EU 7 134895292 134895292 single base substitution G C intron_variant BRCA-EU 7 134895292 134895292 single base substitution G C upstream_gene_variant BRCA-EU 7 134895785 134895785 single base substitution A C intron_variant BRCA-EU 7 134895785 134895785 single base substitution A C upstream_gene_variant BRCA-EU 7 134896019 134896019 single base substitution G A intron_variant BRCA-EU 7 134896019 134896019 single base substitution G A upstream_gene_variant BRCA-EU 7 134896302 134896302 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 7 134896302 134896302 single base substitution G A upstream_gene_variant BRCA-EU 7 134897079 134897079 single base substitution C T upstream_gene_variant BRCA-EU 7 134897960 134897960 single base substitution G A upstream_gene_variant BRCA-EU 7 134899852 134899852 single base substitution T C upstream_gene_variant BRCA-EU 7 134899888 134899888 deletion of <=200bp T - upstream_gene_variant BRCA-EU 7 134901046 134901046 single base substitution C A upstream_gene_variant BRCA-EU 7 134901272 134901272 single base substitution T C upstream_gene_variant BRCA-FR 7 134871159 134871159 single base substitution G C downstream_gene_variant BRCA-FR 7 134871159 134871159 single base substitution G C intron_variant BRCA-FR 7 134879224 134879224 single base substitution T A downstream_gene_variant BRCA-FR 7 134879224 134879224 single base substitution T A intron_variant BRCA-FR 7 134879224 134879224 single base substitution T A upstream_gene_variant BRCA-FR 7 134880618 134880618 single base substitution G C downstream_gene_variant BRCA-FR 7 134880618 134880618 single base substitution G C intron_variant BRCA-FR 7 134880618 134880618 single base substitution G C upstream_gene_variant BRCA-FR 7 134886758 134886758 single base substitution G A intron_variant BRCA-FR 7 134886758 134886758 single base substitution G A upstream_gene_variant BRCA-FR 7 134889073 134889073 single base substitution G A exon_variant BRCA-FR 7 134889073 134889073 single base substitution G A stop_gained Q245* 733C>T BRCA-FR 7 134889073 134889073 single base substitution G A stop_gained Q280* 838C>T BRCA-UK 7 134884986 134884986 single base substitution A T intron_variant BRCA-UK 7 134884986 134884986 single base substitution A T upstream_gene_variant BRCA-UK 7 134886444 134886444 single base substitution C G intron_variant BRCA-UK 7 134886444 134886444 single base substitution C G upstream_gene_variant BRCA-UK 7 134889980 134889980 single base substitution G A intron_variant BRCA-US 7 134871826 134871826 single base substitution G A downstream_gene_variant BRCA-US 7 134871826 134871826 single base substitution G A exon_variant BRCA-US 7 134871826 134871826 single base substitution G A missense_variant R622W 1864C>T BRCA-US 7 134871826 134871826 single base substitution G A synonymous_variant S624S 1872C>T BRCA-US 7 134871826 134871826 single base substitution G A synonymous_variant S659S 1977C>T BRCA-US 7 134889109 134889109 deletion of <=200bp G - exon_variant BRCA-US 7 134889109 134889109 deletion of <=200bp G - frameshift_variant Q233 BRCA-US 7 134889109 134889109 deletion of <=200bp G - frameshift_variant Q268 BRCA-US 7 134890683 134890683 single base substitution T C exon_variant BRCA-US 7 134890683 134890683 single base substitution T C missense_variant E206G 617A>G BRCA-US 7 134890683 134890683 single base substitution T C missense_variant E241G 722A>G BRCA-US 7 134890705 134890705 single base substitution T C exon_variant BRCA-US 7 134890705 134890705 single base substitution T C missense_variant M199V 595A>G BRCA-US 7 134890705 134890705 single base substitution T C missense_variant M234V 700A>G BTCA-JP 7 134870957 134870957 single base substitution G A 3_prime_UTR_variant BTCA-JP 7 134870957 134870957 single base substitution G A downstream_gene_variant BTCA-JP 7 134870957 134870957 single base substitution G A exon_variant BTCA-JP 7 134870957 134870957 single base substitution G A synonymous_variant T695T 2085C>T BTCA-JP 7 134870957 134870957 single base substitution G A synonymous_variant T730T 2190C>T BTCA-JP 7 134873134 134873134 single base substitution G A downstream_gene_variant BTCA-JP 7 134873134 134873134 single base substitution G A intron_variant BTCA-JP 7 134873278 134873278 single base substitution G A downstream_gene_variant BTCA-JP 7 134873278 134873278 single base substitution G A exon_variant BTCA-JP 7 134873278 134873278 single base substitution G A intron_variant BTCA-JP 7 134873278 134873278 single base substitution G A synonymous_variant C561C 1683C>T BTCA-JP 7 134873278 134873278 single base substitution G A synonymous_variant C596C 1788C>T BTCA-JP 7 134873310 134873310 single base substitution G A downstream_gene_variant BTCA-JP 7 134873310 134873310 single base substitution G A intron_variant CESC-US 7 134880995 134880995 single base substitution G A downstream_gene_variant CESC-US 7 134880995 134880995 single base substitution G A exon_variant CESC-US 7 134880995 134880995 single base substitution G A missense_variant S347L 1040C>T CESC-US 7 134880995 134880995 single base substitution G A missense_variant S382L 1145C>T CESC-US 7 134880995 134880995 single base substitution G A upstream_gene_variant CESC-US 7 134884911 134884911 single base substitution G T intron_variant CESC-US 7 134884911 134884911 single base substitution G T upstream_gene_variant CLLE-ES 7 134868326 134868326 single base substitution C G downstream_gene_variant COAD-US 7 134871736 134871736 single base substitution G A 3_prime_UTR_variant COAD-US 7 134871736 134871736 single base substitution G A downstream_gene_variant COAD-US 7 134871736 134871736 single base substitution G A exon_variant COAD-US 7 134871736 134871736 single base substitution G A synonymous_variant G654G 1962C>T COAD-US 7 134871736 134871736 single base substitution G A synonymous_variant G689G 2067C>T COAD-US 7 134880949 134880949 single base substitution A G downstream_gene_variant COAD-US 7 134880949 134880949 single base substitution A G exon_variant COAD-US 7 134880949 134880949 single base substitution A G synonymous_variant I362I 1086T>C COAD-US 7 134880949 134880949 single base substitution A G synonymous_variant I397I 1191T>C COAD-US 7 134880949 134880949 single base substitution A G upstream_gene_variant COAD-US 7 134889048 134889048 single base substitution G A exon_variant COAD-US 7 134889048 134889048 single base substitution G A missense_variant S253L 758C>T COAD-US 7 134889048 134889048 single base substitution G A missense_variant S288L 863C>T COAD-US 7 134890690 134890690 deletion of <=200bp C - exon_variant COAD-US 7 134890690 134890690 deletion of <=200bp C - frameshift_variant D204 COAD-US 7 134890690 134890690 deletion of <=200bp C - frameshift_variant D239 COCA-CN 7 134864691 134864691 single base substitution C T downstream_gene_variant COCA-CN 7 134869649 134869649 single base substitution T C 3_prime_UTR_variant COCA-CN 7 134869649 134869649 single base substitution T C downstream_gene_variant COCA-CN 7 134873212 134873212 single base substitution G A downstream_gene_variant COCA-CN 7 134873212 134873212 single base substitution G A exon_variant COCA-CN 7 134873212 134873212 single base substitution G A intron_variant COCA-CN 7 134873212 134873212 single base substitution G A synonymous_variant T583T 1749C>T COCA-CN 7 134873212 134873212 single base substitution G A synonymous_variant T618T 1854C>T COCA-CN 7 134873355 134873355 single base substitution G A downstream_gene_variant COCA-CN 7 134873355 134873355 single base substitution G A intron_variant COCA-CN 7 134874144 134874144 single base substitution C T downstream_gene_variant COCA-CN 7 134874144 134874144 single base substitution C T exon_variant COCA-CN 7 134874144 134874144 single base substitution C T missense_variant G539R 1615G>A COCA-CN 7 134874144 134874144 single base substitution C T missense_variant G574R 1720G>A COCA-CN 7 134876870 134876870 single base substitution T G downstream_gene_variant COCA-CN 7 134876870 134876870 single base substitution T G intron_variant COCA-CN 7 134878076 134878076 single base substitution C A downstream_gene_variant COCA-CN 7 134878076 134878076 single base substitution C A exon_variant COCA-CN 7 134878076 134878076 single base substitution C A missense_variant Q487H 1461G>T COCA-CN 7 134878076 134878076 single base substitution C A missense_variant Q522H 1566G>T COCA-CN 7 134879830 134879830 single base substitution G A downstream_gene_variant COCA-CN 7 134879830 134879830 single base substitution G A exon_variant COCA-CN 7 134879830 134879830 single base substitution G A synonymous_variant D382D 1146C>T COCA-CN 7 134879830 134879830 single base substitution G A synonymous_variant D417D 1251C>T COCA-CN 7 134879830 134879830 single base substitution G A upstream_gene_variant COCA-CN 7 134882800 134882800 single base substitution C T exon_variant COCA-CN 7 134882800 134882800 single base substitution C T missense_variant R297H 890G>A COCA-CN 7 134882800 134882800 single base substitution C T missense_variant R332H 995G>A COCA-CN 7 134882800 134882800 single base substitution C T upstream_gene_variant COCA-CN 7 134882826 134882826 single base substitution G A exon_variant COCA-CN 7 134882826 134882826 single base substitution G A synonymous_variant S288S 864C>T COCA-CN 7 134882826 134882826 single base substitution G A synonymous_variant S323S 969C>T COCA-CN 7 134882826 134882826 single base substitution G A upstream_gene_variant COCA-CN 7 134888510 134888510 single base substitution G A intron_variant COCA-CN 7 134893721 134893721 single base substitution G T exon_variant COCA-CN 7 134893721 134893721 single base substitution G T missense_variant F111L 333C>A COCA-CN 7 134893721 134893721 single base substitution G T missense_variant F76L 228C>A COCA-CN 7 134893721 134893721 single base substitution G T upstream_gene_variant EOPC-DE 7 134864383 134864383 single base substitution C T downstream_gene_variant EOPC-DE 7 134892892 134892892 single base substitution T C intron_variant EOPC-DE 7 134892892 134892892 single base substitution T C upstream_gene_variant ESAD-UK 7 134866725 134866725 single base substitution C G downstream_gene_variant ESAD-UK 7 134869506 134869506 single base substitution G A 3_prime_UTR_variant ESAD-UK 7 134869506 134869506 single base substitution G A downstream_gene_variant ESAD-UK 7 134869721 134869721 single base substitution A G 3_prime_UTR_variant ESAD-UK 7 134869721 134869721 single base substitution A G downstream_gene_variant ESAD-UK 7 134871285 134871285 deletion of <=200bp A - downstream_gene_variant ESAD-UK 7 134871285 134871285 deletion of <=200bp A - intron_variant ESAD-UK 7 134872088 134872088 single base substitution A C downstream_gene_variant ESAD-UK 7 134872088 134872088 single base substitution A C intron_variant ESAD-UK 7 134875051 134875051 single base substitution C T downstream_gene_variant ESAD-UK 7 134875051 134875051 single base substitution C T intron_variant ESAD-UK 7 134875206 134875206 single base substitution C T downstream_gene_variant ESAD-UK 7 134875206 134875206 single base substitution C T intron_variant ESAD-UK 7 134876826 134876826 single base substitution A G downstream_gene_variant ESAD-UK 7 134876826 134876826 single base substitution A G intron_variant ESAD-UK 7 134879005 134879005 single base substitution T C downstream_gene_variant ESAD-UK 7 134879005 134879005 single base substitution T C intron_variant ESAD-UK 7 134879005 134879005 single base substitution T C upstream_gene_variant ESAD-UK 7 134879186 134879186 insertion of <=200bp - A downstream_gene_variant ESAD-UK 7 134879186 134879186 insertion of <=200bp - A intron_variant ESAD-UK 7 134879186 134879186 insertion of <=200bp - A upstream_gene_variant ESAD-UK 7 134881415 134881415 single base substitution T C intron_variant ESAD-UK 7 134881415 134881415 single base substitution T C upstream_gene_variant ESAD-UK 7 134882812 134882812 single base substitution T A exon_variant ESAD-UK 7 134882812 134882812 single base substitution T A missense_variant H293L 878A>T ESAD-UK 7 134882812 134882812 single base substitution T A missense_variant H328L 983A>T ESAD-UK 7 134882812 134882812 single base substitution T A upstream_gene_variant ESAD-UK 7 134884073 134884073 single base substitution G A intron_variant ESAD-UK 7 134884073 134884073 single base substitution G A upstream_gene_variant ESAD-UK 7 134884587 134884587 single base substitution T C intron_variant ESAD-UK 7 134884587 134884587 single base substitution T C upstream_gene_variant ESAD-UK 7 134887033 134887033 single base substitution T A intron_variant ESAD-UK 7 134887269 134887269 single base substitution T C intron_variant ESAD-UK 7 134887426 134887426 single base substitution C T intron_variant ESAD-UK 7 134891462 134891463 deletion of <=200bp TG - intron_variant ESAD-UK 7 134891518 134891518 insertion of <=200bp - TA intron_variant ESAD-UK 7 134891617 134891617 single base substitution T C intron_variant ESAD-UK 7 134891618 134891618 single base substitution C A intron_variant ESAD-UK 7 134891671 134891671 single base substitution A G intron_variant ESAD-UK 7 134894159 134894159 single base substitution C T intron_variant ESAD-UK 7 134894159 134894159 single base substitution C T upstream_gene_variant ESCA-CN 7 134870816 134870816 single base substitution G C 3_prime_UTR_variant ESCA-CN 7 134870816 134870816 single base substitution G C downstream_gene_variant ESCA-CN 7 134870816 134870816 single base substitution G C exon_variant ESCA-CN 7 134878065 134878065 single base substitution G A downstream_gene_variant ESCA-CN 7 134878065 134878065 single base substitution G A exon_variant ESCA-CN 7 134878065 134878065 single base substitution G A missense_variant S491L 1472C>T ESCA-CN 7 134878065 134878065 single base substitution G A missense_variant S526L 1577C>T ESCA-CN 7 134891954 134891954 single base substitution G A missense_variant P136L 407C>T ESCA-CN 7 134891954 134891954 single base substitution G A missense_variant P171L 512C>T ESCA-CN 7 134891954 134891954 single base substitution G A splice_region_variant ESCA-CN 7 134891954 134891954 single base substitution G A upstream_gene_variant ESCA-CN 7 134895532 134895532 single base substitution T C intron_variant ESCA-CN 7 134895532 134895532 single base substitution T C upstream_gene_variant GBM-US 7 134878049 134878049 single base substitution G T downstream_gene_variant GBM-US 7 134878049 134878049 single base substitution G T exon_variant GBM-US 7 134878049 134878049 single base substitution G T synonymous_variant G496G 1488C>A GBM-US 7 134878049 134878049 single base substitution G T synonymous_variant G531G 1593C>A KIRC-US 7 134889161 134889161 single base substitution A G exon_variant KIRC-US 7 134889161 134889161 single base substitution A G synonymous_variant N215N 645T>C KIRC-US 7 134889161 134889161 single base substitution A G synonymous_variant N250N 750T>C KIRC-US 7 134891906 134891906 single base substitution T A exon_variant KIRC-US 7 134891906 134891906 single base substitution T A missense_variant Q152L 455A>T KIRC-US 7 134891906 134891906 single base substitution T A missense_variant Q187L 560A>T KIRC-US 7 134891906 134891906 single base substitution T A upstream_gene_variant KIRC-US 7 134894458 134894458 single base substitution A G exon_variant KIRC-US 7 134894458 134894458 single base substitution A G missense_variant L23S 68T>C KIRC-US 7 134894458 134894458 single base substitution A G missense_variant L58S 173T>C KIRC-US 7 134894458 134894458 single base substitution A G upstream_gene_variant KIRP-US 7 134871027 134871027 single base substitution A T 3_prime_UTR_variant KIRP-US 7 134871027 134871027 single base substitution A T downstream_gene_variant KIRP-US 7 134871027 134871027 single base substitution A T exon_variant KIRP-US 7 134871027 134871027 single base substitution A T missense_variant L672Q 2015T>A KIRP-US 7 134871027 134871027 single base substitution A T missense_variant L707Q 2120T>A KIRP-US 7 134873248 134873248 single base substitution C T downstream_gene_variant KIRP-US 7 134873248 134873248 single base substitution C T exon_variant KIRP-US 7 134873248 134873248 single base substitution C T intron_variant KIRP-US 7 134873248 134873248 single base substitution C T synonymous_variant E571E 1713G>A KIRP-US 7 134873248 134873248 single base substitution C T synonymous_variant E606E 1818G>A KIRP-US 7 134893687 134893687 single base substitution C A exon_variant KIRP-US 7 134893687 134893687 single base substitution C A missense_variant A123S 367G>T KIRP-US 7 134893687 134893687 single base substitution C A missense_variant A88S 262G>T KIRP-US 7 134893687 134893687 single base substitution C A upstream_gene_variant LAML-KR 7 134888910 134888910 single base substitution C A intron_variant LICA-FR 7 134877028 134877028 single base substitution C T downstream_gene_variant LICA-FR 7 134877028 134877028 single base substitution C T intron_variant LICA-FR 7 134891944 134891944 single base substitution C T exon_variant LICA-FR 7 134891944 134891944 single base substitution C T synonymous_variant V139V 417G>A LICA-FR 7 134891944 134891944 single base substitution C T synonymous_variant V174V 522G>A LICA-FR 7 134891944 134891944 single base substitution C T upstream_gene_variant LIHC-US 7 134894445 134894445 single base substitution C T exon_variant LIHC-US 7 134894445 134894445 single base substitution C T synonymous_variant R27R 81G>A LIHC-US 7 134894445 134894445 single base substitution C T synonymous_variant R62R 186G>A LIHC-US 7 134894445 134894445 single base substitution C T upstream_gene_variant LINC-JP 7 134870781 134870781 single base substitution T C 3_prime_UTR_variant LINC-JP 7 134870781 134870781 single base substitution T C downstream_gene_variant LINC-JP 7 134870781 134870781 single base substitution T C exon_variant LINC-JP 7 134872016 134872016 single base substitution C A downstream_gene_variant LINC-JP 7 134872016 134872016 single base substitution C A intron_variant LINC-JP 7 134879278 134879278 single base substitution A G downstream_gene_variant LINC-JP 7 134879278 134879278 single base substitution A G intron_variant LINC-JP 7 134879278 134879278 single base substitution A G upstream_gene_variant LINC-JP 7 134885161 134885161 single base substitution G A intron_variant LINC-JP 7 134885161 134885161 single base substitution G A upstream_gene_variant LINC-JP 7 134887322 134887322 single base substitution A G intron_variant LINC-JP 7 134890665 134890665 single base substitution G A intron_variant LINC-JP 7 134890681 134890681 single base substitution G T missense_variant L207I 619C>A LINC-JP 7 134890681 134890681 single base substitution G T missense_variant L242I 724C>A LINC-JP 7 134890681 134890681 single base substitution G T splice_region_variant LINC-JP 7 134894456 134894456 single base substitution C T exon_variant LINC-JP 7 134894456 134894456 single base substitution C T missense_variant A24T 70G>A LINC-JP 7 134894456 134894456 single base substitution C T missense_variant A59T 175G>A LINC-JP 7 134894456 134894456 single base substitution C T upstream_gene_variant LINC-JP 7 134899291 134899291 single base substitution C T upstream_gene_variant LINC-JP 7 134900791 134900791 single base substitution A G upstream_gene_variant LIRI-JP 7 134864190 134864190 single base substitution C T downstream_gene_variant LIRI-JP 7 134864308 134864308 single base substitution T A downstream_gene_variant LIRI-JP 7 134864718 134864718 single base substitution T C downstream_gene_variant LIRI-JP 7 134865235 134865235 single base substitution G C downstream_gene_variant LIRI-JP 7 134865316 134865316 single base substitution T C downstream_gene_variant LIRI-JP 7 134867986 134867986 single base substitution T C downstream_gene_variant LIRI-JP 7 134868091 134868091 single base substitution A G downstream_gene_variant LIRI-JP 7 134872038 134872038 single base substitution G A downstream_gene_variant LIRI-JP 7 134872038 134872038 single base substitution G A intron_variant LIRI-JP 7 134873800 134873800 single base substitution A C downstream_gene_variant LIRI-JP 7 134873800 134873800 single base substitution A C intron_variant LIRI-JP 7 134876094 134876094 single base substitution T A downstream_gene_variant LIRI-JP 7 134876094 134876094 single base substitution T A intron_variant LIRI-JP 7 134883562 134883562 single base substitution G A intron_variant LIRI-JP 7 134883562 134883562 single base substitution G A upstream_gene_variant LIRI-JP 7 134884155 134884155 single base substitution A C intron_variant LIRI-JP 7 134884155 134884155 single base substitution A C upstream_gene_variant LIRI-JP 7 134884157 134884157 single base substitution T G intron_variant LIRI-JP 7 134884157 134884157 single base substitution T G upstream_gene_variant LIRI-JP 7 134885060 134885060 single base substitution A G intron_variant LIRI-JP 7 134885060 134885060 single base substitution A G upstream_gene_variant LIRI-JP 7 134889382 134889382 single base substitution T A intron_variant LIRI-JP 7 134891453 134891453 single base substitution C G intron_variant LIRI-JP 7 134891585 134891585 single base substitution T G intron_variant LIRI-JP 7 134891608 134891608 single base substitution T C intron_variant LIRI-JP 7 134895357 134895357 single base substitution A C intron_variant LIRI-JP 7 134895357 134895357 single base substitution A C upstream_gene_variant LIRI-JP 7 134896061 134896061 single base substitution T A intron_variant LIRI-JP 7 134896061 134896061 single base substitution T A upstream_gene_variant LIRI-JP 7 134900757 134900757 single base substitution A G upstream_gene_variant LIRI-JP 7 134900765 134900765 single base substitution A G upstream_gene_variant LUSC-KR 7 134869360 134869360 single base substitution G T 3_prime_UTR_variant LUSC-KR 7 134869360 134869360 single base substitution G T downstream_gene_variant LUSC-KR 7 134870619 134870619 single base substitution C G 3_prime_UTR_variant LUSC-KR 7 134870619 134870619 single base substitution C G downstream_gene_variant LUSC-KR 7 134870619 134870619 single base substitution C G exon_variant LUSC-KR 7 134870816 134870816 single base substitution G T 3_prime_UTR_variant LUSC-KR 7 134870816 134870816 single base substitution G T downstream_gene_variant LUSC-KR 7 134870816 134870816 single base substitution G T exon_variant LUSC-KR 7 134876872 134876872 single base substitution T G downstream_gene_variant LUSC-KR 7 134876872 134876872 single base substitution T G intron_variant LUSC-KR 7 134891849 134891849 single base substitution G C intron_variant LUSC-KR 7 134894594 134894594 single base substitution G T intron_variant LUSC-KR 7 134894594 134894594 single base substitution G T upstream_gene_variant LUSC-KR 7 134895051 134895051 single base substitution G C intron_variant LUSC-KR 7 134895051 134895051 single base substitution G C upstream_gene_variant LUSC-KR 7 134895771 134895771 single base substitution G A intron_variant LUSC-KR 7 134895771 134895771 single base substitution G A upstream_gene_variant LUSC-US 7 134873261 134873261 single base substitution G C downstream_gene_variant LUSC-US 7 134873261 134873261 single base substitution G C exon_variant LUSC-US 7 134873261 134873261 single base substitution G C intron_variant LUSC-US 7 134873261 134873261 single base substitution G C missense_variant A567G 1700C>G LUSC-US 7 134873261 134873261 single base substitution G C missense_variant A602G 1805C>G LUSC-US 7 134878009 134878009 single base substitution A G downstream_gene_variant LUSC-US 7 134878009 134878009 single base substitution A G exon_variant LUSC-US 7 134878009 134878009 single base substitution A G missense_variant W510R 1528T>C LUSC-US 7 134878009 134878009 single base substitution A G missense_variant W545R 1633T>C LUSC-US 7 134881005 134881005 single base substitution G T downstream_gene_variant LUSC-US 7 134881005 134881005 single base substitution G T exon_variant LUSC-US 7 134881005 134881005 single base substitution G T synonymous_variant R344R 1030C>A LUSC-US 7 134881005 134881005 single base substitution G T synonymous_variant R379R 1135C>A LUSC-US 7 134881005 134881005 single base substitution G T upstream_gene_variant LUSC-US 7 134890724 134890724 single base substitution C A exon_variant LUSC-US 7 134890724 134890724 single base substitution C A missense_variant L192F 576G>T LUSC-US 7 134890724 134890724 single base substitution C A missense_variant L227F 681G>T LUSC-US 7 134890753 134890753 single base substitution C G exon_variant LUSC-US 7 134890753 134890753 single base substitution C G missense_variant E183Q 547G>C LUSC-US 7 134890753 134890753 single base substitution C G missense_variant E218Q 652G>C LUSC-US 7 134890771 134890771 single base substitution C T exon_variant LUSC-US 7 134890771 134890771 single base substitution C T missense_variant E177K 529G>A LUSC-US 7 134890771 134890771 single base substitution C T missense_variant E212K 634G>A MALY-DE 7 134876437 134876437 single base substitution G C downstream_gene_variant MALY-DE 7 134876437 134876437 single base substitution G C intron_variant MALY-DE 7 134900571 134900571 single base substitution G A upstream_gene_variant MELA-AU 7 134863772 134863772 single base substitution G A downstream_gene_variant MELA-AU 7 134863957 134863957 single base substitution G A downstream_gene_variant MELA-AU 7 134864878 134864878 single base substitution C T downstream_gene_variant MELA-AU 7 134865096 134865096 single base substitution G A downstream_gene_variant MELA-AU 7 134865305 134865305 single base substitution G A downstream_gene_variant MELA-AU 7 134865383 134865383 single base substitution G A downstream_gene_variant MELA-AU 7 134865802 134865802 single base substitution G A downstream_gene_variant MELA-AU 7 134865946 134865946 single base substitution T A downstream_gene_variant MELA-AU 7 134865964 134865964 single base substitution A G downstream_gene_variant MELA-AU 7 134866553 134866553 single base substitution G A downstream_gene_variant MELA-AU 7 134867519 134867519 single base substitution G A downstream_gene_variant MELA-AU 7 134867531 134867531 single base substitution G A downstream_gene_variant MELA-AU 7 134868045 134868045 single base substitution C T downstream_gene_variant MELA-AU 7 134869321 134869321 single base substitution G A 3_prime_UTR_variant MELA-AU 7 134869321 134869321 single base substitution G A downstream_gene_variant MELA-AU 7 134869356 134869356 single base substitution G A 3_prime_UTR_variant MELA-AU 7 134869356 134869356 single base substitution G A downstream_gene_variant MELA-AU 7 134869496 134869496 single base substitution C G 3_prime_UTR_variant MELA-AU 7 134869496 134869496 single base substitution C G downstream_gene_variant MELA-AU 7 134870149 134870149 single base substitution C T 3_prime_UTR_variant MELA-AU 7 134870149 134870149 single base substitution C T downstream_gene_variant MELA-AU 7 134870729 134870729 single base substitution G A 3_prime_UTR_variant MELA-AU 7 134870729 134870729 single base substitution G A downstream_gene_variant MELA-AU 7 134870729 134870729 single base substitution G A exon_variant MELA-AU 7 134870859 134870859 single base substitution C T 3_prime_UTR_variant MELA-AU 7 134870859 134870859 single base substitution C T downstream_gene_variant MELA-AU 7 134870859 134870859 single base substitution C T exon_variant MELA-AU 7 134871525 134871525 single base substitution G A downstream_gene_variant MELA-AU 7 134871525 134871525 single base substitution G A intron_variant MELA-AU 7 134871650 134871650 single base substitution C A downstream_gene_variant MELA-AU 7 134871650 134871650 single base substitution C A intron_variant MELA-AU 7 134871669 134871669 single base substitution G A downstream_gene_variant MELA-AU 7 134871669 134871669 single base substitution G A intron_variant MELA-AU 7 134871809 134871809 single base substitution T C downstream_gene_variant MELA-AU 7 134871809 134871809 single base substitution T C exon_variant MELA-AU 7 134871809 134871809 single base substitution T C missense_variant Q630R 1889A>G MELA-AU 7 134871809 134871809 single base substitution T C missense_variant Q665R 1994A>G MELA-AU 7 134871809 134871809 single base substitution T C synonymous_variant S627S 1881A>G MELA-AU 7 134873157 134873157 single base substitution C T downstream_gene_variant MELA-AU 7 134873157 134873157 single base substitution C T intron_variant MELA-AU 7 134873213 134873213 single base substitution G A downstream_gene_variant MELA-AU 7 134873213 134873213 single base substitution G A exon_variant MELA-AU 7 134873213 134873213 single base substitution G A intron_variant MELA-AU 7 134873213 134873213 single base substitution G A missense_variant T583I 1748C>T MELA-AU 7 134873213 134873213 single base substitution G A missense_variant T618I 1853C>T MELA-AU 7 134874052 134874052 single base substitution G A downstream_gene_variant MELA-AU 7 134874052 134874052 single base substitution G A intron_variant MELA-AU 7 134874178 134874178 single base substitution G A downstream_gene_variant MELA-AU 7 134874178 134874178 single base substitution G A exon_variant MELA-AU 7 134874178 134874178 single base substitution G A synonymous_variant P527P 1581C>T MELA-AU 7 134874178 134874178 single base substitution G A synonymous_variant P562P 1686C>T MELA-AU 7 134874569 134874569 single base substitution T G downstream_gene_variant MELA-AU 7 134874569 134874569 single base substitution T G intron_variant MELA-AU 7 134875247 134875247 single base substitution G A downstream_gene_variant MELA-AU 7 134875247 134875247 single base substitution G A intron_variant MELA-AU 7 134876425 134876425 single base substitution G A downstream_gene_variant MELA-AU 7 134876425 134876425 single base substitution G A intron_variant MELA-AU 7 134876872 134876872 single base substitution T G downstream_gene_variant MELA-AU 7 134876872 134876872 single base substitution T G intron_variant MELA-AU 7 134877803 134877803 single base substitution A T downstream_gene_variant MELA-AU 7 134877803 134877803 single base substitution A T intron_variant MELA-AU 7 134878558 134878558 single base substitution G A downstream_gene_variant MELA-AU 7 134878558 134878558 single base substitution G A exon_variant MELA-AU 7 134878558 134878558 single base substitution G A intron_variant MELA-AU 7 134878558 134878558 single base substitution G A upstream_gene_variant MELA-AU 7 134878852 134878852 single base substitution G A downstream_gene_variant MELA-AU 7 134878852 134878852 single base substitution G A intron_variant MELA-AU 7 134878852 134878852 single base substitution G A upstream_gene_variant MELA-AU 7 134879741 134879741 single base substitution G A downstream_gene_variant MELA-AU 7 134879741 134879741 single base substitution G A exon_variant MELA-AU 7 134879741 134879741 single base substitution G A missense_variant S412F 1235C>T MELA-AU 7 134879741 134879741 single base substitution G A missense_variant S447F 1340C>T MELA-AU 7 134879741 134879741 single base substitution G A upstream_gene_variant MELA-AU 7 134879744 134879744 single base substitution G A downstream_gene_variant MELA-AU 7 134879744 134879744 single base substitution G A exon_variant MELA-AU 7 134879744 134879744 single base substitution G A missense_variant S411F 1232C>T MELA-AU 7 134879744 134879744 single base substitution G A missense_variant S446F 1337C>T MELA-AU 7 134879744 134879744 single base substitution G A upstream_gene_variant MELA-AU 7 134880625 134880625 single base substitution G A downstream_gene_variant MELA-AU 7 134880625 134880625 single base substitution G A intron_variant MELA-AU 7 134880625 134880625 single base substitution G A upstream_gene_variant MELA-AU 7 134880736 134880736 single base substitution G A downstream_gene_variant MELA-AU 7 134880736 134880736 single base substitution G A intron_variant MELA-AU 7 134880736 134880736 single base substitution G A upstream_gene_variant MELA-AU 7 134881856 134881856 single base substitution G A exon_variant MELA-AU 7 134881856 134881856 single base substitution G A intron_variant MELA-AU 7 134881856 134881856 single base substitution G A upstream_gene_variant MELA-AU 7 134881863 134881863 single base substitution C T exon_variant MELA-AU 7 134881863 134881863 single base substitution C T intron_variant MELA-AU 7 134881863 134881863 single base substitution C T upstream_gene_variant MELA-AU 7 134882042 134882042 single base substitution G A exon_variant MELA-AU 7 134882042 134882042 single base substitution G A intron_variant MELA-AU 7 134882042 134882042 single base substitution G A upstream_gene_variant MELA-AU 7 134882093 134882093 single base substitution G A exon_variant MELA-AU 7 134882093 134882093 single base substitution G A intron_variant MELA-AU 7 134882093 134882093 single base substitution G A upstream_gene_variant MELA-AU 7 134882224 134882224 single base substitution G A exon_variant MELA-AU 7 134882224 134882224 single base substitution G A intron_variant MELA-AU 7 134882224 134882224 single base substitution G A upstream_gene_variant MELA-AU 7 134882388 134882388 single base substitution G A exon_variant MELA-AU 7 134882388 134882388 single base substitution G A intron_variant MELA-AU 7 134882388 134882388 single base substitution G A upstream_gene_variant MELA-AU 7 134882760 134882760 single base substitution G A exon_variant MELA-AU 7 134882760 134882760 single base substitution G A synonymous_variant S310S 930C>T MELA-AU 7 134882760 134882760 single base substitution G A synonymous_variant S345S 1035C>T MELA-AU 7 134882760 134882760 single base substitution G A upstream_gene_variant MELA-AU 7 134883174 134883174 deletion of <=200bp G - intron_variant MELA-AU 7 134883174 134883174 deletion of <=200bp G - upstream_gene_variant MELA-AU 7 134883800 134883800 single base substitution A G intron_variant MELA-AU 7 134883800 134883800 single base substitution A G upstream_gene_variant MELA-AU 7 134884444 134884444 single base substitution G A intron_variant MELA-AU 7 134884444 134884444 single base substitution G A upstream_gene_variant MELA-AU 7 134884744 134884744 single base substitution C T intron_variant MELA-AU 7 134884744 134884744 single base substitution C T upstream_gene_variant MELA-AU 7 134888090 134888090 single base substitution G A intron_variant MELA-AU 7 134888188 134888188 single base substitution G A intron_variant MELA-AU 7 134890035 134890035 single base substitution C T intron_variant MELA-AU 7 134890418 134890419 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 7 134890841 134890841 single base substitution G A intron_variant MELA-AU 7 134891600 134891600 single base substitution G A intron_variant MELA-AU 7 134892734 134892734 single base substitution G A intron_variant MELA-AU 7 134892734 134892734 single base substitution G A upstream_gene_variant MELA-AU 7 134895848 134895848 single base substitution G A intron_variant MELA-AU 7 134895848 134895848 single base substitution G A upstream_gene_variant MELA-AU 7 134896295 134896295 single base substitution G A 5_prime_UTR_variant MELA-AU 7 134896295 134896295 single base substitution G A upstream_gene_variant MELA-AU 7 134896311 134896311 single base substitution G A 5_prime_UTR_variant MELA-AU 7 134896311 134896311 single base substitution G A upstream_gene_variant MELA-AU 7 134896426 134896427 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 134896438 134896438 single base substitution C T upstream_gene_variant MELA-AU 7 134896977 134896977 single base substitution T C upstream_gene_variant MELA-AU 7 134897421 134897421 single base substitution C T upstream_gene_variant MELA-AU 7 134897455 134897455 single base substitution G A upstream_gene_variant MELA-AU 7 134897790 134897790 single base substitution C T upstream_gene_variant MELA-AU 7 134897908 134897908 single base substitution G A upstream_gene_variant MELA-AU 7 134898512 134898512 single base substitution C T upstream_gene_variant MELA-AU 7 134898733 134898733 single base substitution C T upstream_gene_variant MELA-AU 7 134898803 134898803 single base substitution C T upstream_gene_variant MELA-AU 7 134898832 134898832 single base substitution C T upstream_gene_variant MELA-AU 7 134899098 134899098 single base substitution T A upstream_gene_variant MELA-AU 7 134899995 134899995 single base substitution A G upstream_gene_variant MELA-AU 7 134900471 134900471 single base substitution G A upstream_gene_variant MELA-AU 7 134900774 134900774 single base substitution C T upstream_gene_variant ORCA-IN 7 134870140 134870140 single base substitution G T 3_prime_UTR_variant ORCA-IN 7 134870140 134870140 single base substitution G T downstream_gene_variant OV-AU 7 134878512 134878512 single base substitution G A downstream_gene_variant OV-AU 7 134878512 134878512 single base substitution G A exon_variant OV-AU 7 134878512 134878512 single base substitution G A intron_variant OV-AU 7 134878512 134878512 single base substitution G A upstream_gene_variant OV-AU 7 134880528 134880528 single base substitution G C downstream_gene_variant OV-AU 7 134880528 134880528 single base substitution G C intron_variant OV-AU 7 134880528 134880528 single base substitution G C upstream_gene_variant OV-AU 7 134880867 134880867 single base substitution G C downstream_gene_variant OV-AU 7 134880867 134880867 single base substitution G C intron_variant OV-AU 7 134880867 134880867 single base substitution G C upstream_gene_variant OV-AU 7 134880964 134880964 single base substitution G C downstream_gene_variant OV-AU 7 134880964 134880964 single base substitution G C exon_variant OV-AU 7 134880964 134880964 single base substitution G C synonymous_variant P357P 1071C>G OV-AU 7 134880964 134880964 single base substitution G C synonymous_variant P392P 1176C>G OV-AU 7 134880964 134880964 single base substitution G C upstream_gene_variant OV-AU 7 134891058 134891058 single base substitution G C intron_variant OV-AU 7 134892995 134892995 single base substitution T A intron_variant OV-AU 7 134892995 134892995 single base substitution T A upstream_gene_variant OV-AU 7 134894975 134894975 single base substitution G A intron_variant OV-AU 7 134894975 134894975 single base substitution G A upstream_gene_variant OV-AU 7 134898368 134898368 single base substitution G C upstream_gene_variant OV-AU 7 134899841 134899841 single base substitution A C upstream_gene_variant PACA-AU 7 134871473 134871473 single base substitution T G downstream_gene_variant PACA-AU 7 134871473 134871473 single base substitution T G intron_variant PACA-AU 7 134871739 134871739 single base substitution G A 3_prime_UTR_variant PACA-AU 7 134871739 134871739 single base substitution G A downstream_gene_variant PACA-AU 7 134871739 134871739 single base substitution G A exon_variant PACA-AU 7 134871739 134871739 single base substitution G A synonymous_variant G653G 1959C>T PACA-AU 7 134871739 134871739 single base substitution G A synonymous_variant G688G 2064C>T PACA-AU 7 134872341 134872341 single base substitution C G downstream_gene_variant PACA-AU 7 134872341 134872341 single base substitution C G intron_variant PACA-AU 7 134874981 134874981 single base substitution C T downstream_gene_variant PACA-AU 7 134874981 134874981 single base substitution C T intron_variant PACA-AU 7 134876868 134876868 single base substitution T G downstream_gene_variant PACA-AU 7 134876868 134876868 single base substitution T G intron_variant PACA-AU 7 134876873 134876873 single base substitution T G downstream_gene_variant PACA-AU 7 134876873 134876873 single base substitution T G intron_variant PACA-AU 7 134878882 134878882 single base substitution C T downstream_gene_variant PACA-AU 7 134878882 134878882 single base substitution C T intron_variant PACA-AU 7 134878882 134878882 single base substitution C T upstream_gene_variant PACA-AU 7 134882810 134882810 single base substitution G A exon_variant PACA-AU 7 134882810 134882810 single base substitution G A missense_variant R294W 880C>T PACA-AU 7 134882810 134882810 single base substitution G A missense_variant R329W 985C>T PACA-AU 7 134882810 134882810 single base substitution G A upstream_gene_variant PACA-AU 7 134887738 134887738 single base substitution A T intron_variant PACA-AU 7 134888391 134888391 single base substitution T C intron_variant PACA-AU 7 134888667 134888667 single base substitution A G intron_variant PACA-AU 7 134888934 134888934 single base substitution G C intron_variant PACA-AU 7 134899654 134899654 single base substitution C A upstream_gene_variant PACA-AU 7 134900332 134900332 single base substitution C T upstream_gene_variant PACA-CA 7 134863620 134863620 single base substitution C T downstream_gene_variant PACA-CA 7 134864229 134864229 single base substitution C A downstream_gene_variant PACA-CA 7 134876410 134876410 single base substitution G A downstream_gene_variant PACA-CA 7 134876410 134876410 single base substitution G A intron_variant PACA-CA 7 134876873 134876873 single base substitution T G downstream_gene_variant PACA-CA 7 134876873 134876873 single base substitution T G intron_variant PACA-CA 7 134882733 134882733 single base substitution A C exon_variant PACA-CA 7 134882733 134882733 single base substitution A C intron_variant PACA-CA 7 134882733 134882733 single base substitution A C upstream_gene_variant PACA-CA 7 134887209 134887209 single base substitution C T intron_variant PACA-CA 7 134889081 134889081 single base substitution G A exon_variant PACA-CA 7 134889081 134889081 single base substitution G A missense_variant S242L 725C>T PACA-CA 7 134889081 134889081 single base substitution G A missense_variant S277L 830C>T PACA-CA 7 134889338 134889338 insertion of <=200bp - T intron_variant PACA-CA 7 134891517 134891517 insertion of <=200bp - TA intron_variant PACA-CA 7 134891519 134891519 single base substitution A G intron_variant PACA-CA 7 134893740 134893740 single base substitution T C exon_variant PACA-CA 7 134893740 134893740 single base substitution T C missense_variant N105S 314A>G PACA-CA 7 134893740 134893740 single base substitution T C missense_variant N70S 209A>G PACA-CA 7 134893740 134893740 single base substitution T C upstream_gene_variant PACA-CA 7 134896482 134896482 single base substitution C T upstream_gene_variant PACA-CA 7 134898468 134898468 single base substitution G C upstream_gene_variant PACA-CA 7 134899730 134899730 single base substitution C T upstream_gene_variant PACA-CA 7 134899887 134899887 insertion of <=200bp - T upstream_gene_variant PAEN-AU 7 134866846 134866846 single base substitution C T downstream_gene_variant PAEN-AU 7 134867490 134867490 single base substitution T A downstream_gene_variant PAEN-AU 7 134891196 134891196 single base substitution C T intron_variant PAEN-AU 7 134897812 134897812 single base substitution T C upstream_gene_variant PAEN-IT 7 134876984 134876984 single base substitution C T downstream_gene_variant PAEN-IT 7 134876984 134876984 single base substitution C T intron_variant PBCA-DE 7 134879471 134879471 single base substitution C T downstream_gene_variant PBCA-DE 7 134879471 134879471 single base substitution C T intron_variant PBCA-DE 7 134879471 134879471 single base substitution C T upstream_gene_variant PBCA-DE 7 134880038 134880038 insertion of <=200bp - G downstream_gene_variant PBCA-DE 7 134880038 134880038 insertion of <=200bp - G intron_variant PBCA-DE 7 134880038 134880038 insertion of <=200bp - G upstream_gene_variant PBCA-DE 7 134885491 134885491 single base substitution A T intron_variant PBCA-DE 7 134885491 134885491 single base substitution A T upstream_gene_variant PBCA-DE 7 134891518 134891518 insertion of <=200bp - TA intron_variant PRAD-CA 7 134876147 134876147 single base substitution G T downstream_gene_variant PRAD-CA 7 134876147 134876147 single base substitution G T intron_variant PRAD-CA 7 134899871 134899871 single base substitution A C upstream_gene_variant PRAD-UK 7 134884940 134884940 single base substitution A C intron_variant PRAD-UK 7 134884940 134884940 single base substitution A C upstream_gene_variant PRAD-UK 7 134894167 134894167 deletion of <=200bp A - intron_variant PRAD-UK 7 134894167 134894167 deletion of <=200bp A - upstream_gene_variant PRAD-UK 7 134897635 134897635 single base substitution T A upstream_gene_variant PRAD-UK 7 134900373 134900373 single base substitution C A upstream_gene_variant RECA-EU 7 134866852 134866852 single base substitution C G downstream_gene_variant RECA-EU 7 134876867 134876867 single base substitution T G downstream_gene_variant RECA-EU 7 134876867 134876867 single base substitution T G intron_variant RECA-EU 7 134876870 134876870 single base substitution T G downstream_gene_variant RECA-EU 7 134876870 134876870 single base substitution T G intron_variant RECA-EU 7 134876871 134876871 single base substitution T G downstream_gene_variant RECA-EU 7 134876871 134876871 single base substitution T G intron_variant RECA-EU 7 134876872 134876872 single base substitution T G downstream_gene_variant RECA-EU 7 134876872 134876872 single base substitution T G intron_variant RECA-EU 7 134879746 134879746 single base substitution T A downstream_gene_variant RECA-EU 7 134879746 134879746 single base substitution T A exon_variant RECA-EU 7 134879746 134879746 single base substitution T A synonymous_variant A410A 1230A>T RECA-EU 7 134879746 134879746 single base substitution T A synonymous_variant A445A 1335A>T RECA-EU 7 134879746 134879746 single base substitution T A upstream_gene_variant RECA-EU 7 134880208 134880208 single base substitution C T downstream_gene_variant RECA-EU 7 134880208 134880208 single base substitution C T intron_variant RECA-EU 7 134880208 134880208 single base substitution C T upstream_gene_variant RECA-EU 7 134890741 134890741 single base substitution A G exon_variant RECA-EU 7 134890741 134890741 single base substitution A G synonymous_variant L187L 559T>C RECA-EU 7 134890741 134890741 single base substitution A G synonymous_variant L222L 664T>C RECA-EU 7 134891850 134891850 single base substitution A G intron_variant SKCA-BR 7 134869871 134869871 single base substitution C T 3_prime_UTR_variant SKCA-BR 7 134869871 134869871 single base substitution C T downstream_gene_variant SKCA-BR 7 134869918 134869918 single base substitution A G 3_prime_UTR_variant SKCA-BR 7 134869918 134869918 single base substitution A G downstream_gene_variant SKCA-BR 7 134872024 134872024 single base substitution A C downstream_gene_variant SKCA-BR 7 134872024 134872024 single base substitution A C intron_variant SKCA-BR 7 134873550 134873550 single base substitution G A downstream_gene_variant SKCA-BR 7 134873550 134873550 single base substitution G A intron_variant SKCA-BR 7 134876866 134876866 insertion of <=200bp - TG downstream_gene_variant SKCA-BR 7 134876866 134876866 insertion of <=200bp - TG intron_variant SKCA-BR 7 134876872 134876872 single base substitution T G downstream_gene_variant SKCA-BR 7 134876872 134876872 single base substitution T G intron_variant SKCA-BR 7 134877374 134877374 single base substitution C T downstream_gene_variant SKCA-BR 7 134877374 134877374 single base substitution C T intron_variant SKCA-BR 7 134877841 134877841 single base substitution G A downstream_gene_variant SKCA-BR 7 134877841 134877841 single base substitution G A intron_variant SKCA-BR 7 134881403 134881403 single base substitution G A intron_variant SKCA-BR 7 134881403 134881403 single base substitution G A upstream_gene_variant SKCA-BR 7 134891179 134891179 single base substitution C T intron_variant SKCA-BR 7 134891180 134891181 deletion of <=200bp TG - intron_variant SKCA-BR 7 134892211 134892211 single base substitution A T intron_variant SKCA-BR 7 134892211 134892211 single base substitution A T upstream_gene_variant SKCA-BR 7 134896318 134896318 single base substitution G A upstream_gene_variant SKCA-BR 7 134896419 134896419 single base substitution T C upstream_gene_variant SKCA-BR 7 134896426 134896426 single base substitution C T upstream_gene_variant SKCA-BR 7 134897455 134897455 single base substitution G A upstream_gene_variant SKCA-BR 7 134899596 134899596 single base substitution A G upstream_gene_variant SKCA-BR 7 134899887 134899887 insertion of <=200bp - GT upstream_gene_variant SKCA-BR 7 134900682 134900682 single base substitution G A upstream_gene_variant SKCA-BR 7 134900924 134900924 single base substitution C T upstream_gene_variant SKCM-US 7 134871868 134871868 single base substitution G A downstream_gene_variant SKCM-US 7 134871868 134871868 single base substitution G A exon_variant SKCM-US 7 134871868 134871868 single base substitution G A missense_variant P608S 1822C>T SKCM-US 7 134871868 134871868 single base substitution G A synonymous_variant L610L 1830C>T SKCM-US 7 134871868 134871868 single base substitution G A synonymous_variant L645L 1935C>T SKCM-US 7 134871889 134871889 single base substitution G A downstream_gene_variant SKCM-US 7 134871889 134871889 single base substitution G A exon_variant SKCM-US 7 134871889 134871889 single base substitution G A stop_gained Q601* 1801C>T SKCM-US 7 134871889 134871889 single base substitution G A synonymous_variant L603L 1809C>T SKCM-US 7 134871889 134871889 single base substitution G A synonymous_variant L638L 1914C>T SKCM-US 7 134878080 134878080 single base substitution G A downstream_gene_variant SKCM-US 7 134878080 134878080 single base substitution G A exon_variant SKCM-US 7 134878080 134878080 single base substitution G A missense_variant S486F 1457C>T SKCM-US 7 134878080 134878080 single base substitution G A missense_variant S521F 1562C>T SKCM-US 7 134878093 134878093 single base substitution G A downstream_gene_variant SKCM-US 7 134878093 134878093 single base substitution G A exon_variant SKCM-US 7 134878093 134878093 single base substitution G A missense_variant P482S 1444C>T SKCM-US 7 134878093 134878093 single base substitution G A missense_variant P517S 1549C>T SKCM-US 7 134878103 134878103 single base substitution C T downstream_gene_variant SKCM-US 7 134878103 134878103 single base substitution C T exon_variant SKCM-US 7 134878103 134878103 single base substitution C T synonymous_variant S478S 1434G>A SKCM-US 7 134878103 134878103 single base substitution C T synonymous_variant S513S 1539G>A SKCM-US 7 134889048 134889048 single base substitution G A exon_variant SKCM-US 7 134889048 134889048 single base substitution G A missense_variant S253L 758C>T SKCM-US 7 134889048 134889048 single base substitution G A missense_variant S288L 863C>T SKCM-US 7 134890719 134890719 single base substitution G A exon_variant SKCM-US 7 134890719 134890719 single base substitution G A missense_variant P194L 581C>T SKCM-US 7 134890719 134890719 single base substitution G A missense_variant P229L 686C>T SKCM-US 7 134890723 134890723 single base substitution G T exon_variant SKCM-US 7 134890723 134890723 single base substitution G T missense_variant P193T 577C>A SKCM-US 7 134890723 134890723 single base substitution G T missense_variant P228T 682C>A SKCM-US 7 134891950 134891950 single base substitution G A exon_variant SKCM-US 7 134891950 134891950 single base substitution G A synonymous_variant V137V 411C>T SKCM-US 7 134891950 134891950 single base substitution G A synonymous_variant V172V 516C>T SKCM-US 7 134891950 134891950 single base substitution G A upstream_gene_variant SKCM-US 7 134894380 134894380 insertion of <=200bp - T exon_variant SKCM-US 7 134894380 134894380 insertion of <=200bp - T frameshift_variant I49I? SKCM-US 7 134894380 134894380 insertion of <=200bp - T frameshift_variant I84I? SKCM-US 7 134894380 134894380 insertion of <=200bp - T upstream_gene_variant SKCM-US 7 134896318 134896318 single base substitution G A upstream_gene_variant STAD-US 7 134871064 134871064 single base substitution C T 3_prime_UTR_variant STAD-US 7 134871064 134871064 single base substitution C T downstream_gene_variant STAD-US 7 134871064 134871064 single base substitution C T exon_variant STAD-US 7 134871064 134871064 single base substitution C T missense_variant G660S 1978G>A STAD-US 7 134871064 134871064 single base substitution C T missense_variant G695S 2083G>A STAD-US 7 134871808 134871808 insertion of <=200bp - T downstream_gene_variant STAD-US 7 134871808 134871808 insertion of <=200bp - T exon_variant STAD-US 7 134871808 134871808 insertion of <=200bp - T frameshift_variant Q630Q? STAD-US 7 134871808 134871808 insertion of <=200bp - T frameshift_variant Q665Q? STAD-US 7 134871808 134871808 insertion of <=200bp - T frameshift_variant S628K? STAD-US 7 134873256 134873256 single base substitution A G downstream_gene_variant STAD-US 7 134873256 134873256 single base substitution A G exon_variant STAD-US 7 134873256 134873256 single base substitution A G intron_variant STAD-US 7 134873256 134873256 single base substitution A G missense_variant Y569H 1705T>C STAD-US 7 134873256 134873256 single base substitution A G missense_variant Y604H 1810T>C STAD-US 7 134878091 134878091 single base substitution C T downstream_gene_variant STAD-US 7 134878091 134878091 single base substitution C T exon_variant STAD-US 7 134878091 134878091 single base substitution C T synonymous_variant P482P 1446G>A STAD-US 7 134878091 134878091 single base substitution C T synonymous_variant P517P 1551G>A STAD-US 7 134878103 134878103 single base substitution C T downstream_gene_variant STAD-US 7 134878103 134878103 single base substitution C T exon_variant STAD-US 7 134878103 134878103 single base substitution C T synonymous_variant S478S 1434G>A STAD-US 7 134878103 134878103 single base substitution C T synonymous_variant S513S 1539G>A STAD-US 7 134878329 134878329 single base substitution C T downstream_gene_variant STAD-US 7 134878329 134878329 single base substitution C T splice_donor_variant STAD-US 7 134878329 134878329 single base substitution C T upstream_gene_variant STAD-US 7 134889047 134889047 single base substitution C T exon_variant STAD-US 7 134889047 134889047 single base substitution C T synonymous_variant S253S 759G>A STAD-US 7 134889047 134889047 single base substitution C T synonymous_variant S288S 864G>A STAD-US 7 134890686 134890686 single base substitution G A exon_variant STAD-US 7 134890686 134890686 single base substitution G A missense_variant S205L 614C>T STAD-US 7 134890686 134890686 single base substitution G A missense_variant S240L 719C>T STAD-US 7 134891882 134891882 single base substitution A G exon_variant STAD-US 7 134891882 134891882 single base substitution A G missense_variant L160P 479T>C STAD-US 7 134891882 134891882 single base substitution A G missense_variant L195P 584T>C STAD-US 7 134893650 134893658 deletion of <=200bp GGCAGGAAG - disruptive_inframe_deletion PFLP132P STAD-US 7 134893650 134893658 deletion of <=200bp GGCAGGAAG - disruptive_inframe_deletion PFLP97P STAD-US 7 134893650 134893658 deletion of <=200bp GGCAGGAAG - exon_variant STAD-US 7 134893650 134893658 deletion of <=200bp GGCAGGAAG - upstream_gene_variant UCEC-US 7 134871735 134871735 single base substitution C T 3_prime_UTR_variant UCEC-US 7 134871735 134871735 single base substitution C T downstream_gene_variant UCEC-US 7 134871735 134871735 single base substitution C T exon_variant UCEC-US 7 134871735 134871735 single base substitution C T missense_variant V655I 1963G>A UCEC-US 7 134871735 134871735 single base substitution C T missense_variant V690I 2068G>A UCEC-US 7 134871760 134871760 single base substitution C T 3_prime_UTR_variant UCEC-US 7 134871760 134871760 single base substitution C T downstream_gene_variant UCEC-US 7 134871760 134871760 single base substitution C T exon_variant UCEC-US 7 134871760 134871760 single base substitution C T missense_variant M646I 1938G>A UCEC-US 7 134871760 134871760 single base substitution C T missense_variant M681I 2043G>A UCEC-US 7 134871854 134871854 single base substitution G A downstream_gene_variant UCEC-US 7 134871854 134871854 single base substitution G A exon_variant UCEC-US 7 134871854 134871854 single base substitution G A missense_variant T615M 1844C>T UCEC-US 7 134871854 134871854 single base substitution G A missense_variant T650M 1949C>T UCEC-US 7 134871854 134871854 single base substitution G A synonymous_variant H612H 1836C>T UCEC-US 7 134878067 134878067 single base substitution G A downstream_gene_variant UCEC-US 7 134878067 134878067 single base substitution G A exon_variant UCEC-US 7 134878067 134878067 single base substitution G A synonymous_variant F490F 1470C>T UCEC-US 7 134878067 134878067 single base substitution G A synonymous_variant F525F 1575C>T UCEC-US 7 134878103 134878103 single base substitution C T downstream_gene_variant UCEC-US 7 134878103 134878103 single base substitution C T exon_variant UCEC-US 7 134878103 134878103 single base substitution C T synonymous_variant S478S 1434G>A UCEC-US 7 134878103 134878103 single base substitution C T synonymous_variant S513S 1539G>A UCEC-US 7 134878136 134878136 single base substitution C T downstream_gene_variant UCEC-US 7 134878136 134878136 single base substitution C T exon_variant UCEC-US 7 134878136 134878136 single base substitution C T synonymous_variant A467A 1401G>A UCEC-US 7 134878136 134878136 single base substitution C T synonymous_variant A502A 1506G>A UCEC-US 7 134878368 134878368 single base substitution C A downstream_gene_variant UCEC-US 7 134878368 134878368 single base substitution C A exon_variant UCEC-US 7 134878368 134878368 single base substitution C A missense_variant K449N 1347G>T UCEC-US 7 134878368 134878368 single base substitution C A missense_variant K484N 1452G>T UCEC-US 7 134878368 134878368 single base substitution C A upstream_gene_variant UCEC-US 7 134879799 134879799 single base substitution C T downstream_gene_variant UCEC-US 7 134879799 134879799 single base substitution C T exon_variant UCEC-US 7 134879799 134879799 single base substitution C T missense_variant V393I 1177G>A UCEC-US 7 134879799 134879799 single base substitution C T missense_variant V428I 1282G>A UCEC-US 7 134879799 134879799 single base substitution C T upstream_gene_variant UCEC-US 7 134882867 134882867 single base substitution C T exon_variant UCEC-US 7 134882867 134882867 single base substitution C T missense_variant D275N 823G>A UCEC-US 7 134882867 134882867 single base substitution C T missense_variant D310N 928G>A UCEC-US 7 134882867 134882867 single base substitution C T upstream_gene_variant UCEC-US 7 134889080 134889080 single base substitution C T exon_variant UCEC-US 7 134889080 134889080 single base substitution C T synonymous_variant S242S 726G>A UCEC-US 7 134889080 134889080 single base substitution C T synonymous_variant S277S 831G>A UCEC-US 7 134889139 134889139 single base substitution G A exon_variant UCEC-US 7 134889139 134889139 single base substitution G A missense_variant R223C 667C>T UCEC-US 7 134889139 134889139 single base substitution G A missense_variant R258C 772C>T UCEC-US 7 134893731 134893731 single base substitution G A exon_variant UCEC-US 7 134893731 134893731 single base substitution G A missense_variant A108V 323C>T UCEC-US 7 134893731 134893731 single base substitution G A missense_variant A73V 218C>T UCEC-US 7 134893731 134893731 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AA-3821-01 COSM294948 c.249A>G p.T83T Substitution - coding silent 7:135209630-135209630 - SS6003119 COSM3413987 c.983A>T p.H328L Substitution - Missense 7:135198060-135198060 - TCGA-D1-A176-01 COSM1085821 c.831G>A p.S277S Substitution - coding silent 7:135204328-135204328 - HCC57T COSM1622364 c.175G>A p.A59T Substitution - Missense 7:135209704-135209704 - HT115 COSM2858981 c.224G>A p.R75H Substitution - Missense 7:135209655-135209655 - TCGA-FS-A4FC-06 COSM3633615 c.1935C>T p.L645L Substitution - coding silent 7:135187116-135187116 - TCGA-D1-A17Q-01 COSM1085817 c.1506G>A p.A502A Substitution - coding silent 7:135193384-135193384 - SNU-175 COSM2858982 c.212G>A p.R71Q Substitution - Missense 7:135209667-135209667 - BD72T COSM2858919 c.2190C>T p.T730T Substitution - coding silent 7:135186205-135186205 - 2492723 COSM5723898 c.933G>A p.G311G Substitution - coding silent 7:135198110-135198110 - T8 COSM5618568 c.815G>C p.S272T Substitution - Missense 7:135204344-135204344 - 2492722 COSM5723898 c.933G>A p.G311G Substitution - coding silent 7:135198110-135198110 - TCGA-B5-A0JY-01 COSM1085820 c.928G>A p.D310N Substitution - Missense 7:135198115-135198115 - LUAD-F00089 COSM339887 c.51C>G p.L17L Substitution - coding silent 7:135211452-135211452 - ESCC-134T COSM3942046 c.512C>T p.P171L Substitution - Missense 7:135207202-135207202 - CHC1704T COSM4804154 c.522G>A p.V174V Substitution - coding silent 7:135207192-135207192 - 528 COSM5612224 c.1720G>T p.G574W Substitution - Missense 7:135189392-135189392 - 2492721 COSM5723898 c.933G>A p.G311G Substitution - coding silent 7:135198110-135198110 - TCGA-BS-A0UF-01 COSM1085822 c.323C>T p.A108V Substitution - Missense 7:135208979-135208979 - TCGA-30-1714-01 COSM1330061 c.502C>A p.Q168K Substitution - Missense 7:135208800-135208800 - C0021T COSM4155416 c.664T>C p.L222L Substitution - coding silent 7:135205989-135205989 - TCGA-EE-A3JA-06 COSM3633618 c.682C>A p.P228T Substitution - Missense 7:135205971-135205971 - STC297 COSM5062200 c.1323G>A p.M441I Substitution - Missense 7:135195006-135195006 - TCGA-CZ-5986-01 COSM484875 c.560A>T p.Q187L Substitution - Missense 7:135207154-135207154 - HCC57 COSM1622364 c.175G>A p.A59T Substitution - Missense 7:135209704-135209704 - 2367456 COSM5004148 c.610G>T p.A204S Substitution - Missense 7:135206043-135206043 - 587228 COSM1232710 c.1831G>A p.E611K Substitution - Missense 7:135188483-135188483 - PDA_077 COSM5002274 c.1246G>T p.V416L Substitution - Missense 7:135195083-135195083 - TCGA-AA-A010-01 COSM286523 c.1477G>A p.D493N Substitution - Missense 7:135193591-135193591 - TCGA-BR-4292-01 COSM3878313 c.2083G>A p.G695S Substitution - Missense 7:135186312-135186312 - B66 COSM1755101 c.856C>T p.Q286* Substitution - Nonsense 7:135204303-135204303 - TCGA-B5-A11E-01 COSM136633 c.772C>T p.R258C Substitution - Missense 7:135204387-135204387 - HT115 COSM136633 c.772C>T p.R258C Substitution - Missense 7:135204387-135204387 - AOCS-116-1-3 COSM4153859 c.1176C>G p.P392P Substitution - coding silent 7:135196212-135196212 - Pat_28_B COSM5871888 c.383G>A p.W128* Substitution - Nonsense 7:135208919-135208919 - ICGC_0046 COSM218907 c.985C>T p.R329W Substitution - Missense 7:135198058-135198058 - LUAD-5V8LT COSM402934 c.2066G>A p.G689D Substitution - Missense 7:135186985-135186985 - TCGA-A7-A0CH-01 COSM452394 c.722A>G p.E241G Substitution - Missense 7:135205931-135205931 - sysucc-880T COSM5463592 c.1566G>T p.Q522H Substitution - Missense 7:135193324-135193324 - ESCC_BICR_070T COSM5445128 c.1577C>T p.S526L Substitution - Missense 7:135193313-135193313 - LC_S17 COSM1187441 c.174G>C p.L58F Substitution - Missense 7:135209705-135209705 - TCGA-AM-5820-01 COSM3698192 c.1191T>C p.I397I Substitution - coding silent 7:135196197-135196197 - TCGA-BR-4368-01 COSM3878319 c.584T>C p.L195P Substitution - Missense 7:135207130-135207130 - KM12 COSM2858954 c.938G>A p.S313N Substitution - Missense 7:135198105-135198105 - TCGA-EE-A3JD-06 COSM106540 c.1562C>T p.S521F Substitution - Missense 7:135193328-135193328 - T3021 COSM4741126 c.1930A>G p.S644G Substitution - Missense 7:135187121-135187121 - YURAY COSM1755100 c.1352C>T p.S451L Substitution - Missense 7:135194977-135194977 - ESO-610 COSM1270446 c.2149G>A p.V717M Substitution - Missense 7:135186246-135186246 - 8069453 COSM3784998 c.2064C>T p.G688G Substitution - coding silent 7:135186987-135186987 - TCGA-A4-8311-01 COSM3995368 c.1818G>A p.E606E Substitution - coding silent 7:135188496-135188496 - TCGA-AX-A0J1-01 COSM1085812 c.2068G>A p.V690I Substitution - Missense 7:135186983-135186983 - TCGA-BR-6566-01 COSM3878314 c.1810T>C p.Y604H Substitution - Missense 7:135188504-135188504 - TCGA-EB-A3XB-01 COSM3633616 c.1914C>T p.L638L Substitution - coding silent 7:135187137-135187137 - TCGA-B7-5818-01 COSM3878318 c.719C>T p.S240L Substitution - Missense 7:135205934-135205934 - 8015764 COSM218907 c.985C>T p.R329W Substitution - Missense 7:135198058-135198058 - TCGA-AP-A051-01 COSM1085814 c.1949C>T p.T650M Substitution - Missense 7:135187102-135187102 - TCGA-MH-A562-01 COSM3995369 c.367G>T p.A123S Substitution - Missense 7:135208935-135208935 - HDC87 COSM4637166 c.965A>T p.E322V Substitution - Missense 7:135198078-135198078 - LUAD-S01381 COSM398626 c.582T>G p.V194V Substitution - coding silent 7:135207132-135207132 - OVCAR-3 COSM1673557 c.589C>T p.Q197* Substitution - Nonsense 7:135207125-135207125 - RKO COSM3878315 c.1551G>A p.P517P Substitution - coding silent 7:135193339-135193339 - HCC19T COSM3662932 c.724C>A p.L242I Substitution - Missense 7:135205929-135205929 - DN11135 COSM5782292 c.838C>T p.Q280* Substitution - Nonsense 7:135204321-135204321 - ESO-0292 COSM1241899 c.1112C>T p.T371M Substitution - Missense 7:135196276-135196276 - TCGA-33-4582-01 COSM744437 c.1135C>A p.R379R Substitution - coding silent 7:135196253-135196253 - sysucc-880T COSM5463591 c.1854C>T p.T618T Substitution - coding silent 7:135188460-135188460 - PDA_055 COSM5000865 c.1504G>T p.A502S Substitution - Missense 7:135193386-135193386 - TCGA-BT-A2LB-01 COSM3778134 c.219C>T p.F73F Substitution - coding silent 7:135209660-135209660 - STC252 COSM5062201 c.184C>T p.R62W Substitution - Missense 7:135209695-135209695 - TCGA-A1-A0SE-01 COSM452395 c.700A>G p.M234V Substitution - Missense 7:135205953-135205953 - HCC19 COSM3662932 c.724C>A p.L242I Substitution - Missense 7:135205929-135205929 - LAU149 COSM235572 c.1530C>T p.F510F Substitution - coding silent 7:135193360-135193360 - TCGA-AA-A00N-01 COSM278136 c.623G>A p.R208Q Substitution - Missense 7:135206030-135206030 - TCGA-FS-A1ZK-06 COSM1448247 c.863C>T p.S288L Substitution - Missense 7:135204296-135204296 - TCGA-BC-A69H-01 COSM4918999 c.186G>A p.R62R Substitution - coding silent 7:135209693-135209693 - 2334187 COSM324308 c.770C>T p.P257L Substitution - Missense 7:135204389-135204389 - TCGA-D1-A17M-01 COSM1085811 c.2191G>A p.A731T Substitution - Missense 7:135186204-135186204 - TCGA-37-4133-01 COSM744438 c.1633T>C p.W545R Substitution - Missense 7:135193257-135193257 - B89-10 COSM1755100 c.1352C>T p.S451L Substitution - Missense 7:135194977-135194977 - ASHPC_0006_Pa_P COSM3781266 c.830C>T p.S277L Substitution - Missense 7:135204329-135204329 - Pat_45_B COSM5871889 c.124G>A p.V42M Substitution - Missense 7:135209755-135209755 - TCGA-DK-A1AC-01 COSM1312698 c.1836C>T p.F612F Substitution - coding silent 7:135188478-135188478 - TCGA-EA-A3QE-01 COSM4843541 c.1145C>T p.S382L Substitution - Missense 7:135196243-135196243 - pfg068T COSM1643251 c.209G>A p.R70H Substitution - Missense 7:135209670-135209670 - HN_62506 COSM128485 c.978A>G p.S326S Substitution - coding silent 7:135198065-135198065 - TCGA-CJ-6033-01 COSM484874 c.750T>C p.N250N Substitution - coding silent 7:135204409-135204409 - 1517_PT COSM5756976 c.2204G>A p.G735D Substitution - Missense 7:135186191-135186191 - HCC2157 COSM50574 c.2132G>C p.R711P Substitution - Missense 7:135186263-135186263 - TCGA-EB-A4OY-01 COSM1085816 c.1539G>A p.S513S Substitution - coding silent 7:135193351-135193351 - S01020 COSM5665334 c.907G>C p.D303H Substitution - Missense 7:135198136-135198136 - ESCC_58 COSM5632634 c.1146G>A p.S382S Substitution - coding silent 7:135196242-135196242 - ESO-118 COSM1270445 c.1897A>C p.I633L Substitution - Missense 7:135187154-135187154 - PT35 COSM5912718 c.512-7C>T p.? Unknown 7:135207209-135207209 - TCGA-AZ-4615-01 COSM3698191 c.2067C>T p.G689G Substitution - coding silent 7:135186984-135186984 - LUAD-NYU1219 COSM370251 c.457G>A p.D153N Substitution - Missense 7:135208845-135208845 - H838 COSM1193171 c.493G>A p.V165I Substitution - Missense 7:135208809-135208809 - TCGA-39-5030-01 COSM744434 c.652G>C p.E218Q Substitution - Missense 7:135206001-135206001 - SNUH_G16_S1 COSM4004300 c.610G>A p.A204T Substitution - Missense 7:135206043-135206043 - BB13T COSM50575 c.454G>A p.A152T Substitution - Missense 7:135208848-135208848 - PDA_016 COSM324308 c.770C>T p.P257L Substitution - Missense 7:135204389-135204389 - CSCC-45-T COSM4476294 c.2058C>T p.A686A Substitution - coding silent 7:135186993-135186993 - YUTUCO COSM3633619 c.516C>T p.V172V Substitution - coding silent 7:135207198-135207198 - SNU-175 COSM1085821 c.831G>A p.S277S Substitution - coding silent 7:135204328-135204328 - 587284 COSM1232712 c.1858T>C p.Y620H Substitution - Missense 7:135188456-135188456 - TCGA-ER-A3PL-06 COSM3633617 c.1549C>T p.P517S Substitution - Missense 7:135193341-135193341 - CSCC-17-T COSM4447475 c.123+3G>A p.? Unknown 7:135211377-135211377 - TCGA-22-5473-01 COSM744439 c.1805C>G p.A602G Substitution - Missense 7:135188509-135188509 - HCT15 COSM1673556 c.1426C>A p.R476S Substitution - Missense 7:135193642-135193642 - PTC-28C COSM4161819 c.1810T>A p.Y604N Substitution - Missense 7:135188504-135188504 - M14 COSM278136 c.623G>A p.R208Q Substitution - Missense 7:135206030-135206030 - 587286 COSM1085811 c.2191G>A p.A731T Substitution - Missense 7:135186204-135186204 - TCGA-AP-A054-01 COSM1085813 c.2043G>A p.M681I Substitution - Missense 7:135187008-135187008 - TCGA-FP-A4BE-01 COSM1085816 c.1539G>A p.S513S Substitution - coding silent 7:135193351-135193351 - 61 COSM1232711 c.1426C>T p.R476C Substitution - Missense 7:135193642-135193642 - LS411 COSM2858934 c.1665G>A p.Q555Q Substitution - coding silent 7:135189447-135189447 - ESO-717 COSM1242999 c.1042A>C p.T348P Substitution - Missense 7:135198001-135198001 - T41 COSM5345269 c.586C>T p.R196C Substitution - Missense 7:135207128-135207128 - TCGA-AO-A1KS-01 COSM5835322 c.802delC p.Q268fs*110 Deletion - Frameshift 7:135204357-135204357 - TCGA-HU-A4GX-01 COSM3878315 c.1551G>A p.P517P Substitution - coding silent 7:135193339-135193339 - TCGA-FW-A3R5-06 COSM3922760 c.686C>T p.P229L Substitution - Missense 7:135205967-135205967 - C0030T COSM4155415 c.1335A>T p.A445A Substitution - coding silent 7:135194994-135194994 - MDA-N COSM278136 c.623G>A p.R208Q Substitution - Missense 7:135206030-135206030 - T3021 COSM4741128 c.64A>G p.T22A Substitution - Missense 7:135211439-135211439 - pfg008T COSM1643250 c.1522G>A p.A508T Substitution - Missense 7:135193368-135193368 - HCT-15 COSM1673556 c.1426C>A p.R476S Substitution - Missense 7:135193642-135193642 - PD9579a COSM5786019 c.1229C>G p.S410C Substitution - Missense 7:135196159-135196159 - TCGA-IN-8462-01 COSM3878317 c.864G>A p.S288S Substitution - coding silent 7:135204295-135204295 - sysucc-1370T COSM5472354 c.1720G>A p.G574R Substitution - Missense 7:135189392-135189392 - 12T COSM106540 c.1562C>T p.S521F Substitution - Missense 7:135193328-135193328 - cSCCP6 COSM136633 c.772C>T p.R258C Substitution - Missense 7:135204387-135204387 - DLD1 COSM1673556 c.1426C>A p.R476S Substitution - Missense 7:135193642-135193642 - TCGA-18-3417-01 COSM744433 c.634G>A p.E212K Substitution - Missense 7:135206019-135206019 - BD124T COSM5492311 c.1788C>T p.C596C Substitution - coding silent 7:135188526-135188526 - B89-10-Tumor COSM1755100 c.1352C>T p.S451L Substitution - Missense 7:135194977-135194977 - B66-Tumor COSM1755101 c.856C>T p.Q286* Substitution - Nonsense 7:135204303-135204303 - TCGA-AX-A0J1-01 COSM1085819 c.1282G>A p.V428I Substitution - Missense 7:135195047-135195047 - PT21_2 COSM5901526 c.854C>T p.P285L Substitution - Missense 7:135204305-135204305 - pfg002T COSM1643251 c.209G>A p.R70H Substitution - Missense 7:135209670-135209670 - TCGA-DK-A1AC-01 COSM1312699 c.1826C>T p.S609F Substitution - Missense 7:135188488-135188488 - T3724 COSM4741127 c.1592G>A p.G531D Substitution - Missense 7:135193298-135193298 - TCGA-AX-A05Z-01 COSM1085818 c.1452G>T p.K484N Substitution - Missense 7:135193616-135193616 - TCGA-BS-A0UF-01 COSM1085815 c.1575C>T p.F525F Substitution - coding silent 7:135193315-135193315 - 587278 COSM1232711 c.1426C>T p.R476C Substitution - Missense 7:135193642-135193642 - TCGA-CM-5861-01 COSM1448249 c.715delG p.D239fs*139 Deletion - Frameshift 7:135205938-135205938 - TCGA-33-4583-01 COSM744435 c.681G>T p.L227F Substitution - Missense 7:135205972-135205972 - T14 COSM5345270 c.258G>A p.K86K Substitution - coding silent 7:135209621-135209621 - 66 COSM1085818 c.1452G>T p.K484N Substitution - Missense 7:135193616-135193616 - CHC1704T COSM4804154 c.522G>A p.V174V Substitution - coding silent 7:135207192-135207192 - 2492720 COSM5723898 c.933G>A p.G311G Substitution - coding silent 7:135198110-135198110 - HN_62298 COSM130211 c.1401G>T p.L467F Substitution - Missense 7:135193667-135193667 - TCGA-CZ-4858-01 COSM3366789 c.173T>C p.L58S Substitution - Missense 7:135209706-135209706 - TCGA-CA-6718-01 COSM1448247 c.863C>T p.S288L Substitution - Missense 7:135204296-135204296 - T5 COSM5345268 c.2027C>T p.S676L Substitution - Missense 7:135187024-135187024 - 353 COSM3724177 c.1398C>G p.L466L Substitution - coding silent 7:135193670-135193670 - pfg008T COSM1643250 c.1522G>A p.A508T Substitution - Missense 7:135193368-135193368 - TCGA-OL-A5RZ-01 COSM2858924 c.1977C>T p.S659S Substitution - coding silent 7:135187074-135187074 - CSCC-16-T COSM4520961 c.1086G>A p.E362E Substitution - coding silent 7:135196302-135196302 - TCGA-24-1551-01 COSM73291 c.1199G>C p.G400A Substitution - Missense 7:135196189-135196189 - ATL089 COSM5710422 c.1731_1744del14 p.V578fs*1 Deletion - Frameshift 7:135189368-135189381 - TCGA-AA-3715-01 COSM270552 c.2127C>T p.G709G Substitution - coding silent 7:135186268-135186268 - TCGA-DA-A1I4-06 COSM3633619 c.516C>T p.V172V Substitution - coding silent 7:135207198-135207198 - TCGA-AP-A051-01 COSM1085816 c.1539G>A p.S513S Substitution - coding silent 7:135193351-135193351 - TCGA-06-0214-01 COSM3411614 c.1593C>A p.G531G Substitution - coding silent 7:135193297-135193297 - ccRCC-102 COSM1660316 c.1123_1137del15 p.E375_R379delEPLTR Deletion - In frame 7:135196251-135196265 - MDA-MB-435 COSM278136 c.623G>A p.R208Q Substitution - Missense 7:135206030-135206030 - CCK81 COSM278136 c.623G>A p.R208Q Substitution - Missense 7:135206030-135206030 - PD8995a COSM5782292 c.838C>T p.Q280* Substitution - Nonsense 7:135204321-135204321 - TCGA-19-5951-01 COSM3411613 c.1754T>C p.V585A Substitution - Missense 7:135189358-135189358 - TCGA-HU-A4GQ-01 COSM3878316 c.1490+1G>A p.? Unknown 7:135193577-135193577 - TCGA-ER-A3PL-06 COSM1448247 c.863C>T p.S288L Substitution - Missense 7:135204296-135204296 - C658 COSM4443561 c.160C>A p.Q54K Substitution - Missense 7:135209719-135209719 - TCGA-A4-7584-01 COSM3995367 c.2120T>A p.L707Q Substitution - Missense 7:135186275-135186275 - ESCC_122 COSM5640805 c.1433A>G p.Y478C Substitution - Missense 7:135193635-135193635 - SNUH_G22_S1 COSM4004301 c.331T>G p.F111V Substitution - Missense 7:135208971-135208971 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.459847;Hs.459855;Hs.459858 7q33 2467895|dbSNP|BC017246|A/G|coding|Ser676Ser|2028|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.L195P c.584T>C 7 134891882 STAD A G Missense p.L58S c.173T>C 7 134894458 RCCC A G Missense p.V585A c.1754T>C 7 134874110 GBM A G Missense p.W545R c.1633T>C 7 134878009 LUSC A G Synonymous p.N250N c.750T>C 7 134889161 RCCC - CACGGTGACCACAGGGG Frameshift p.D718Pfs*28 c.2150_2151insCCCCTGTGGTCACCGTG 7 134870996 LUAD C A Missense p.G605W c.1813G>T 7 134873253 CM C A Missense p.G605W c.1813G>T 7 134873253 LUAD C A Missense p.L227F c.681G>T 7 134890724 LUSC C A Missense p.L467F c.1401G>T 7 134878419 HNSC C - Frameshift p.E606Rfs*77 c.1816delG 7 134873250 LUAD C G Missense p.E218Q c.652G>C 7 134890753 LUSC C G Missense p.G400A c.1199G>C 7 134880941 OV C T Missense p.A123T c.367G>A 7 134893687 HNSC C T Missense p.A508T c.1522G>A 7 134878120 STAD C T Missense p.E212K c.634G>A 7 134890771 LUSC C T Missense p.G695S c.2083G>A 7 134871064 STAD C T Missense p.M681I c.2043G>A 7 134871760 UCEC C T Missense p.R70H c.209G>A 7 134894422 STAD C T Synonymous p.S277S c.831G>A 7 134889080 UCEC G A Missense p.A279V c.836C>T 7 134889075 HNSC G A Missense p.A4V c.11C>T 7 134896244 LUAD G A Missense p.P257L c.770C>T 7 134889141 SCLC G A Missense p.R329W c.985C>T 7 134882810 PAAD G A Missense p.R379W c.1135C>T 7 134881005 COREAD G A Missense p.S240L c.719C>T 7 134890686 STAD G A Missense p.S288L c.863C>T 7 134889048 CM G A Missense p.S521F c.1562C>T 7 134878080 CM G A Nonsense p.R149* c.445C>T 7 134893609 CM G A Synonymous p.A569A c.1707C>T 7 134874157 CM G A Synonymous p.A602A c.1806C>T 7 134873260 CM G A Synonymous p.F73F c.219C>T 7 134894412 BLCA G A Synonymous p.G623G c.1869C>T 7 134873197 BRCA G A Synonymous p.V172V c.516C>T 7 134891950 CM G C Missense p.A602G c.1805C>G 7 134873261 LUSC G T Missense p.P228T c.682C>A 7 134890723 CM G T Missense p.T721N c.2162C>A 7 134870985 COREAD G T Synonymous p.G531G c.1593C>A 7 134878049 GBM G T Synonymous p.R379R c.1135C>A 7 134881005 LUSC T A Missense p.Q187L c.560A>T 7 134891906 RCCC T A Synonymous p.V428V c.1284A>T 7 134879797 LUAD T C Missense p.E241G c.722A>G 7 134890683 BRCA T C Missense p.M234V c.700A>G 7 134890705 BRCA T C Synonymous p.S326S c.978A>G 7 134882817 HNSC T G Missense p.I633L c.1897A>C 7 134871906 ESCA T G Missense p.N485T c.1454A>C 7 134878366 HNSC