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 1 16580181 16580181 + Frame_Shift_Del DEL G G - TCGA-OR-A5KP-01A-11D-A30A-10 TCGA-OR-A5KP-10A-01D-A30A-10 g.chr1:16580181delG c.813delC c.(811-813)tccfs p.S271fs BLCA 1 16577222 16577222 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 g.chr1:16577222C>G c.2097G>C c.(2095-2097)caG>caC p.Q699H BLCA 1 16577371 16577371 + Missense_Mutation SNP C C T TCGA-4Z-AA7O-01A-31D-A391-08 TCGA-4Z-AA7O-10A-01D-A394-08 g.chr1:16577371C>T c.1948G>A c.(1948-1950)Gac>Aac p.D650N BLCA 1 16577397 16577397 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 g.chr1:16577397C>T c.1922G>A c.(1921-1923)tGc>tAc p.C641Y BLCA 1 16577604 16577604 + Missense_Mutation SNP G G A TCGA-GU-A42P-01A-11D-A23U-08 TCGA-GU-A42P-10A-01D-A23U-08 g.chr1:16577604G>A c.1715C>T c.(1714-1716)tCg>tTg p.S572L BLCA 1 16577749 16577749 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 g.chr1:16577749C>T c.1570G>A c.(1570-1572)Ggg>Agg p.G524R BLCA 1 16578086 16578086 + Silent SNP C C T TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr1:16578086C>T c.1233G>A c.(1231-1233)ctG>ctA p.L411L BLCA 1 16578101 16578101 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 g.chr1:16578101G>A c.1218C>T c.(1216-1218)ggC>ggT p.G406G BLCA 1 16579618 16579618 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 g.chr1:16579618G>A c.894C>T c.(892-894)atC>atT p.I298I BLCA 1 16583177 16583177 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 g.chr1:16583177G>A c.580C>T c.(580-582)Cgg>Tgg p.R194W BLCA 1 16621317 16621317 + Missense_Mutation SNP C C T TCGA-DK-AA6L-01A-11D-A391-08 TCGA-DK-AA6L-10A-01D-A394-08 g.chr1:16621317C>T c.463G>A c.(463-465)Gac>Aac p.D155N BLCA 1 16621380 16621380 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr1:16621380A>G c.400T>C c.(400-402)Tat>Cat p.Y134H BLCA 1 16632313 16632313 + Nonsense_Mutation SNP G G A TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr1:16632313G>A c.352C>T c.(352-354)Cag>Tag p.Q118* BLCA 1 16632350 16632350 + Silent SNP C C T TCGA-4Z-AA7M-01A-11D-A391-08 TCGA-4Z-AA7M-10A-01D-A394-08 g.chr1:16632350C>T c.315G>A c.(313-315)gaG>gaA p.E105E BLCA 1 16632383 16632383 + Missense_Mutation SNP C C T TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr1:16632383C>T c.282G>A c.(280-282)atG>atA p.M94I BLCA 1 16641716 16641716 + Silent SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 g.chr1:16641716C>T c.198G>A c.(196-198)caG>caA p.Q66Q BLCA 1 16641726 16641726 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 g.chr1:16641726G>A c.188C>T c.(187-189)tCa>tTa p.S63L BLCA 1 16641730 16641730 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 g.chr1:16641730G>A c.184C>T c.(184-186)Ctc>Ttc p.L62F BLCA 1 16641859 16641859 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 g.chr1:16641859C>G c.55G>C c.(55-57)Gaa>Caa p.E19Q BLCA 1 16641900 16641900 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr1:16641900G>A c.14C>T c.(13-15)tCg>tTg p.S5L BLCA 1 16641903 16641903 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 g.chr1:16641903G>A c.11C>T c.(10-12)tCc>tTc p.S4F BRCA 1 16577863 16577863 + Nonsense_Mutation SNP G G A TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr1:16577863G>A c.1456C>T c.(1456-1458)Cga>Tga p.R486* BRCA 1 16577968 16577968 + Missense_Mutation SNP C C G TCGA-D8-A27H-01A-11D-A16D-09 TCGA-D8-A27H-10A-01D-A16D-09 g.chr1:16577968C>G c.1351G>C c.(1351-1353)Gtg>Ctg p.V451L BRCA 1 16641842 16641842 + Silent SNP C C T TCGA-E2-A3DX-01A-21D-A20S-09 TCGA-E2-A3DX-10A-01D-A20S-09 g.chr1:16641842C>T c.72G>A c.(70-72)ggG>ggA p.G24G CESC 1 16577299 16577299 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr1:16577299G>T c.2020C>A c.(2020-2022)Cct>Act p.P674T CESC 1 16577630 16577630 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr1:16577630G>C c.1689C>G c.(1687-1689)atC>atG p.I563M CESC 1 16577862 16577862 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 g.chr1:16577862C>T c.1457G>A c.(1456-1458)cGa>cAa p.R486Q CESC 1 16577905 16577905 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 g.chr1:16577905C>T c.1414G>A c.(1414-1416)Gaa>Aaa p.E472K CESC 1 16577965 16577965 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 g.chr1:16577965C>G c.1354G>C c.(1354-1356)Ggt>Cgt p.G452R CHOL 1 16632409 16632409 + Missense_Mutation SNP C C T TCGA-W5-AA2G-01A-11D-A417-09 TCGA-W5-AA2G-10A-01D-A41A-09 g.chr1:16632409C>T c.256G>A c.(256-258)Gcc>Acc p.A86T COAD 1 16577313 16577313 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:16577313G>T c.2006C>A c.(2005-2007)tCt>tAt p.S669Y COAD 1 16577707 16577707 + Missense_Mutation SNP G G A TCGA-AA-A00U-01A-01W-A005-10 TCGA-AA-A00U-10A-01W-A005-10 g.chr1:16577707G>A c.1612C>T c.(1612-1614)Cat>Tat p.H538Y COAD 1 16577872 16577872 + Missense_Mutation SNP C C G TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr1:16577872C>G c.1447G>C c.(1447-1449)Gcc>Ccc p.A483P COAD 1 16577976 16577976 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:16577976G>A c.1343C>T c.(1342-1344)aCg>aTg p.T448M COAD 1 16578237 16578237 + Missense_Mutation SNP C C T TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr1:16578237C>T c.1082G>A c.(1081-1083)aGa>aAa p.R361K COAD 1 16580147 16580147 + Silent SNP G G T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr1:16580147G>T c.847C>A c.(847-849)Cga>Aga p.R283R COAD 1 16580190 16580191 + Frame_Shift_Ins INS - - CACTG TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chr1:16580190_16580191insCACTG c.803_804insCAGTG c.(802-804)tggfs p.W268fs COAD 1 16582282 16582282 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:16582282G>A c.691C>T c.(691-693)Ccc>Tcc p.P231S COADREAD 1 16577169 16577169 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:16577169C>A c.2150G>T c.(2149-2151)aGa>aTa p.R717I COADREAD 1 16577313 16577313 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:16577313G>T c.2006C>A c.(2005-2007)tCt>tAt p.S669Y COADREAD 1 16577707 16577707 + Missense_Mutation SNP G G A TCGA-AA-A00U-01A-01W-A005-10 TCGA-AA-A00U-10A-01W-A005-10 g.chr1:16577707G>A c.1612C>T c.(1612-1614)Cat>Tat p.H538Y COADREAD 1 16577872 16577872 + Missense_Mutation SNP C C G TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr1:16577872C>G c.1447G>C c.(1447-1449)Gcc>Ccc p.A483P COADREAD 1 16577976 16577976 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:16577976G>A c.1343C>T c.(1342-1344)aCg>aTg p.T448M COADREAD 1 16578237 16578237 + Missense_Mutation SNP C C T TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr1:16578237C>T c.1082G>A c.(1081-1083)aGa>aAa p.R361K COADREAD 1 16580147 16580147 + Silent SNP G G T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr1:16580147G>T c.847C>A c.(847-849)Cga>Aga p.R283R COADREAD 1 16580190 16580191 + Frame_Shift_Ins INS - - CACTG TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chr1:16580190_16580191insCACTG c.803_804insCAGTG c.(802-804)tggfs p.W268fs COADREAD 1 16582282 16582282 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:16582282G>A c.691C>T c.(691-693)Ccc>Tcc p.P231S DLBC 1 16577948 16577948 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr1:16577948G>A c.1371C>T c.(1369-1371)gaC>gaT p.D457D DLBC 1 16641797 16641797 + Silent SNP C C T TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr1:16641797C>T c.117G>A c.(115-117)gaG>gaA p.E39E ESCA 1 16583183 16583184 + Missense_Mutation DNP AG AG GA TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 g.chr1:16583183_16583184AG>GA c.573_574CT>TC c.(571-576)ggCTgg>ggTCgg p.W192R ESCA 1 16632345 16632345 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 g.chr1:16632345C>T c.320G>A c.(319-321)cGt>cAt p.R107H GBMLGG 1 16577865 16577865 + Missense_Mutation SNP C C T TCGA-TQ-A7RM-01A-11D-A33T-08 TCGA-TQ-A7RM-10A-01D-A33W-08 g.chr1:16577865C>T c.1454G>A c.(1453-1455)cGa>cAa p.R485Q GBMLGG 1 16641705 16641705 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:16641705G>A c.209C>T c.(208-210)aCt>aTt p.T70I HNSC 1 16577604 16577604 + Missense_Mutation SNP G G A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 g.chr1:16577604G>A c.1715C>T c.(1714-1716)tCg>tTg p.S572L HNSC 1 16641805 16641805 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 g.chr1:16641805C>G c.109G>C c.(109-111)Gag>Cag p.E37Q KIPAN 1 16577186 16577186 + Nonsense_Mutation SNP G G C TCGA-CJ-5675-01A-11D-1534-10 TCGA-CJ-5675-11A-01D-1534-10 g.chr1:16577186G>C c.2133C>G c.(2131-2133)taC>taG p.Y711* KIPAN 1 16577319 16577320 + Frame_Shift_Ins INS - - TATTAAA TCGA-A4-8310-01A-11D-2396-08 TCGA-A4-8310-10A-01D-2396-08 g.chr1:16577319_16577320insTATTAAA c.1999_2000insTTTAATA c.(1999-2001)agcfs p.S667fs KIPAN 1 16583146 16583146 + Missense_Mutation SNP T T G TCGA-CJ-6031-01A-11D-1669-08 TCGA-CJ-6031-11A-01D-1669-08 g.chr1:16583146T>G c.611A>C c.(610-612)gAg>gCg p.E204A KIRC 1 16577186 16577186 + Nonsense_Mutation SNP G G C TCGA-CJ-5675-01A-11D-1534-10 TCGA-CJ-5675-11A-01D-1534-10 g.chr1:16577186G>C c.2133C>G c.(2131-2133)taC>taG p.Y711* KIRC 1 16583146 16583146 + Missense_Mutation SNP T T G TCGA-CJ-6031-01A-11D-1669-08 TCGA-CJ-6031-11A-01D-1669-08 g.chr1:16583146T>G c.611A>C c.(610-612)gAg>gCg p.E204A KIRP 1 16577319 16577320 + Frame_Shift_Ins INS - - TATTAAA TCGA-A4-8310-01A-11D-2396-08 TCGA-A4-8310-10A-01D-2396-08 g.chr1:16577319_16577320insTATTAAA c.1999_2000insTTTAATA c.(1999-2001)agcfs p.S667fs LGG 1 16577865 16577865 + Missense_Mutation SNP C C T TCGA-TQ-A7RM-01A-11D-A33T-08 TCGA-TQ-A7RM-10A-01D-A33W-08 g.chr1:16577865C>T c.1454G>A c.(1453-1455)cGa>cAa p.R485Q LGG 1 16641705 16641705 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:16641705G>A c.209C>T c.(208-210)aCt>aTt p.T70I LIHC 1 16577289 16577289 + Missense_Mutation SNP C C A TCGA-CC-5264-01A-01D-A12Z-10 TCGA-CC-5264-10A-01D-A12Z-10 g.chr1:16577289C>A c.2030G>T c.(2029-2031)aGc>aTc p.S677I LIHC 1 16577608 16577609 + Frame_Shift_Ins INS - - C TCGA-RC-A7S9-01A-11D-A33Q-10 TCGA-RC-A7S9-10A-02D-A33Q-10 g.chr1:16577608_16577609insC c.1710_1711insG c.(1708-1713)ggccccfs p.P571fs LIHC 1 16577701 16577701 + Missense_Mutation SNP G G C TCGA-DD-AADV-01A-11D-A38X-10 TCGA-DD-AADV-10A-01D-A38X-10 g.chr1:16577701G>C c.1618C>G c.(1618-1620)Cca>Gca p.P540A LIHC 1 16578144 16578145 + Frame_Shift_Del DEL TG TG - TCGA-ED-A459-01A-11D-A25V-10 TCGA-ED-A459-10A-01D-A25V-10 g.chr1:16578144_16578145delTG c.1174_1175delCA c.(1174-1176)cagfs p.Q392fs LIHC 1 16579610 16579610 + Missense_Mutation SNP C C T TCGA-DD-AAE4-01A-11D-A40R-10 TCGA-DD-AAE4-10A-01D-A40U-10 g.chr1:16579610C>T c.902G>A c.(901-903)gGg>gAg p.G301E LUAD 1 16577171 16577171 + Missense_Mutation SNP C C G TCGA-55-6968-01A-11D-1945-08 TCGA-55-6968-11A-01D-1945-08 g.chr1:16577171C>G c.2148G>C c.(2146-2148)aaG>aaC p.K716N LUAD 1 16577832 16577832 + Missense_Mutation SNP C C A TCGA-55-8511-01A-11D-2393-08 TCGA-55-8511-10A-01D-2393-08 g.chr1:16577832C>A c.1487G>T c.(1486-1488)aGa>aTa p.R496I LUAD 1 16577865 16577865 + Missense_Mutation SNP C C A TCGA-86-8673-01A-11D-2393-08 TCGA-86-8673-10A-01D-2393-08 g.chr1:16577865C>A c.1454G>T c.(1453-1455)cGa>cTa p.R485L LUAD 1 16578015 16578015 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr1:16578015C>T c.1304G>A c.(1303-1305)gGc>gAc p.G435D LUAD 1 16580198 16580198 + Missense_Mutation SNP C C G TCGA-91-8499-01A-11D-2393-08 TCGA-91-8499-10A-01D-2393-08 g.chr1:16580198C>G c.796G>C c.(796-798)Gag>Cag p.E266Q LUAD 1 16632321 16632321 + Missense_Mutation SNP G G C TCGA-75-5125-01A-01D-1753-08 TCGA-75-5125-10A-01D-1753-08 g.chr1:16632321G>C c.344C>G c.(343-345)cCa>cGa p.P115R LUSC 1 16577480 16577480 + Silent SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr1:16577480G>A c.1839C>T c.(1837-1839)tcC>tcT p.S613S LUSC 1 16577630 16577630 + Missense_Mutation SNP G G C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 g.chr1:16577630G>C c.1689C>G c.(1687-1689)atC>atG p.I563M LUSC 1 16577801 16577801 + Silent SNP C C G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 g.chr1:16577801C>G c.1518G>C c.(1516-1518)ctG>ctC p.L506L PAAD 1 16579592 16579592 + Splice_Site SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:16579592G>A c.920C>T c.(919-921)gCt>gTt p.A307V PAAD 1 16641844 16641844 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:16641844C>T c.70G>A c.(70-72)Ggg>Agg p.G24R PRAD 1 16577179 16577179 + Nonsense_Mutation SNP G G A TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 g.chr1:16577179G>A c.2140C>T c.(2140-2142)Cga>Tga p.R714* PRAD 1 16577179 16577179 + Nonsense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:16577179G>A c.2140C>T c.(2140-2142)Cga>Tga p.R714* PRAD 1 16577707 16577707 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:16577707G>A c.1612C>T c.(1612-1614)Cat>Tat p.H538Y PRAD 1 16577790 16577790 + Missense_Mutation SNP G G A TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 g.chr1:16577790G>A c.1529C>T c.(1528-1530)tCc>tTc p.S510F PRAD 1 16621337 16621337 + Missense_Mutation SNP A A G TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 g.chr1:16621337A>G c.443T>C c.(442-444)tTc>tCc p.F148S PRAD 1 16641764 16641764 + Silent SNP C C A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 g.chr1:16641764C>A c.150G>T c.(148-150)ctG>ctT p.L50L READ 1 16577169 16577169 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:16577169C>A c.2150G>T c.(2149-2151)aGa>aTa p.R717I SARC 1 16577304 16577304 + Missense_Mutation SNP C C T TCGA-MB-A5Y9-01A-11D-A29N-09 TCGA-MB-A5Y9-10A-01D-A29N-09 g.chr1:16577304C>T c.2015G>A c.(2014-2016)gGa>gAa p.G672E SARC 1 16578032 16578032 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr1:16578032G>A c.1287C>T c.(1285-1287)tcC>tcT p.S429S SARC 1 16578257 16578257 + Silent SNP G G A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 g.chr1:16578257G>A c.1062C>T c.(1060-1062)ttC>ttT p.F354F SARC 1 16580201 16580201 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr1:16580201G>A c.793C>T c.(793-795)Ctt>Ttt p.L265F SKCM 1 16577301 16577301 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:16577301G>A c.2018C>T c.(2017-2019)cCt>cTt p.P673L SKCM 1 16577532 16577532 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr1:16577532C>T c.1787G>A c.(1786-1788)gGa>gAa p.G596E SKCM 1 16577615 16577615 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr1:16577615G>A c.1704C>T c.(1702-1704)tcC>tcT p.S568S SKCM 1 16577664 16577664 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 g.chr1:16577664G>A c.1655C>T c.(1654-1656)tCc>tTc p.S552F SKCM 1 16577797 16577797 + Missense_Mutation SNP G G A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 g.chr1:16577797G>A c.1522C>T c.(1522-1524)Ccc>Tcc p.P508S SKCM 1 16577850 16577850 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr1:16577850G>A c.1469C>T c.(1468-1470)cCa>cTa p.P490L SKCM 1 16577944 16577944 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 g.chr1:16577944G>A c.1375C>T c.(1375-1377)Cct>Tct p.P459S SKCM 1 16583245 16583245 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 g.chr1:16583245G>A c.512C>T c.(511-513)cCt>cTt p.P171L SKCM 1 16583246 16583246 + Missense_Mutation SNP G G A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 g.chr1:16583246G>A c.511C>T c.(511-513)Cct>Tct p.P171S SKCM 1 16632330 16632330 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr1:16632330G>A c.335C>T c.(334-336)cCt>cTt p.P112L SKCM 1 16632330 16632330 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr1:16632330G>A c.335C>T c.(334-336)cCt>cTt p.P112L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 1 16577222 16577222 single base substitution C G downstream_gene_variant BLCA-US 1 16577222 16577222 single base substitution C G missense_variant Q699H 2097G>C BLCA-US 1 16577397 16577397 single base substitution C T downstream_gene_variant BLCA-US 1 16577397 16577397 single base substitution C T missense_variant C641Y 1922G>A BLCA-US 1 16579618 16579618 single base substitution G A synonymous_variant I16I 48C>T BLCA-US 1 16579618 16579618 single base substitution G A synonymous_variant I298I 894C>T BLCA-US 1 16641859 16641859 single base substitution C G exon_variant BLCA-US 1 16641859 16641859 single base substitution C G missense_variant E19Q 55G>C BLCA-US 1 16641900 16641900 single base substitution G A missense_variant S5L 14C>T BLCA-US 1 16641900 16641900 single base substitution G A upstream_gene_variant BLCA-US 1 16641903 16641903 single base substitution G A missense_variant S4F 11C>T BLCA-US 1 16641903 16641903 single base substitution G A upstream_gene_variant BOCA-FR 1 16576172 16576172 single base substitution G A 3_prime_UTR_variant BOCA-FR 1 16576172 16576172 single base substitution G A downstream_gene_variant BRCA-EU 1 16568952 16568952 single base substitution C G downstream_gene_variant BRCA-EU 1 16569859 16569859 single base substitution C G downstream_gene_variant BRCA-EU 1 16570330 16570330 single base substitution T A downstream_gene_variant BRCA-EU 1 16571940 16571940 single base substitution C G downstream_gene_variant BRCA-EU 1 16572827 16572827 single base substitution T G downstream_gene_variant BRCA-EU 1 16572954 16572954 single base substitution C T downstream_gene_variant BRCA-EU 1 16575493 16575493 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 16575493 16575493 single base substitution G A downstream_gene_variant BRCA-EU 1 16575680 16575680 single base substitution T A 3_prime_UTR_variant BRCA-EU 1 16575680 16575680 single base substitution T A downstream_gene_variant BRCA-EU 1 16576416 16576416 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 16576416 16576416 single base substitution G A downstream_gene_variant BRCA-EU 1 16576425 16576425 single base substitution T A 3_prime_UTR_variant BRCA-EU 1 16576425 16576425 single base substitution T A downstream_gene_variant BRCA-EU 1 16577725 16577725 single base substitution C T missense_variant E250K 748G>A BRCA-EU 1 16577725 16577725 single base substitution C T missense_variant E532K 1594G>A BRCA-EU 1 16578958 16578958 single base substitution C T intron_variant BRCA-EU 1 16579230 16579230 single base substitution C G intron_variant BRCA-EU 1 16579824 16579824 single base substitution A G 5_prime_UTR_variant BRCA-EU 1 16579824 16579824 single base substitution A G intron_variant BRCA-EU 1 16585655 16585655 single base substitution C G intron_variant BRCA-EU 1 16589173 16589173 single base substitution C T intron_variant BRCA-EU 1 16590786 16590786 single base substitution G T intron_variant BRCA-EU 1 16592156 16592156 single base substitution A C intron_variant BRCA-EU 1 16592429 16592429 single base substitution T C intron_variant BRCA-EU 1 16595280 16595280 single base substitution G A intron_variant BRCA-EU 1 16597535 16597535 single base substitution G A intron_variant BRCA-EU 1 16598027 16598027 single base substitution C T intron_variant BRCA-EU 1 16598940 16598940 single base substitution G C intron_variant BRCA-EU 1 16599364 16599364 single base substitution C T intron_variant BRCA-EU 1 16600420 16600420 single base substitution G T intron_variant BRCA-EU 1 16600709 16600709 single base substitution G C intron_variant BRCA-EU 1 16600786 16600786 single base substitution G A intron_variant BRCA-EU 1 16601516 16601516 single base substitution G C intron_variant BRCA-EU 1 16602011 16602011 single base substitution G A intron_variant BRCA-EU 1 16602127 16602127 single base substitution G A intron_variant BRCA-EU 1 16602604 16602604 single base substitution C T intron_variant BRCA-EU 1 16602696 16602696 single base substitution G A intron_variant BRCA-EU 1 16606242 16606242 single base substitution G A intron_variant BRCA-EU 1 16607474 16607474 single base substitution G C intron_variant BRCA-EU 1 16616665 16616665 single base substitution C G downstream_gene_variant BRCA-EU 1 16616665 16616665 single base substitution C G intron_variant BRCA-EU 1 16616822 16616822 single base substitution G T downstream_gene_variant BRCA-EU 1 16616822 16616822 single base substitution G T intron_variant BRCA-EU 1 16617422 16617422 single base substitution G C downstream_gene_variant BRCA-EU 1 16617422 16617422 single base substitution G C intron_variant BRCA-EU 1 16617937 16617937 single base substitution G A downstream_gene_variant BRCA-EU 1 16617937 16617937 single base substitution G A intron_variant BRCA-EU 1 16618400 16618400 single base substitution C G downstream_gene_variant BRCA-EU 1 16618400 16618400 single base substitution C G intron_variant BRCA-EU 1 16623059 16623059 single base substitution C T intron_variant BRCA-EU 1 16623611 16623611 single base substitution T G intron_variant BRCA-EU 1 16625513 16625513 single base substitution A T intron_variant BRCA-EU 1 16626750 16626750 single base substitution C T intron_variant BRCA-EU 1 16627402 16627402 insertion of <=200bp - C intron_variant BRCA-EU 1 16628468 16628468 single base substitution A C intron_variant BRCA-EU 1 16628563 16628563 single base substitution T A intron_variant BRCA-EU 1 16628563 16628563 single base substitution T C intron_variant BRCA-EU 1 16628849 16628849 single base substitution C T intron_variant BRCA-EU 1 16631356 16631356 single base substitution C T intron_variant BRCA-EU 1 16634647 16634647 deletion of <=200bp T - intron_variant BRCA-EU 1 16636120 16636120 single base substitution G A intron_variant BRCA-EU 1 16636522 16636522 single base substitution C T intron_variant BRCA-EU 1 16636945 16636945 single base substitution G C intron_variant BRCA-EU 1 16637167 16637167 single base substitution T C intron_variant BRCA-EU 1 16637764 16637764 single base substitution G C intron_variant BRCA-EU 1 16638466 16638466 single base substitution C T intron_variant BRCA-EU 1 16638534 16638534 deletion of <=200bp A - intron_variant BRCA-EU 1 16639723 16639723 single base substitution A C intron_variant BRCA-EU 1 16641438 16641438 single base substitution T C intron_variant BRCA-EU 1 16642353 16642353 single base substitution G A intron_variant BRCA-EU 1 16642353 16642353 single base substitution G A upstream_gene_variant BRCA-EU 1 16643020 16643020 single base substitution C A intron_variant BRCA-EU 1 16643020 16643020 single base substitution C A upstream_gene_variant BRCA-EU 1 16643099 16643099 single base substitution G A intron_variant BRCA-EU 1 16643099 16643099 single base substitution G A upstream_gene_variant BRCA-EU 1 16643939 16643939 single base substitution C A intron_variant BRCA-EU 1 16643939 16643939 single base substitution C A upstream_gene_variant BRCA-EU 1 16644256 16644256 deletion of <=200bp A - intron_variant BRCA-EU 1 16644256 16644256 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 16644995 16644995 single base substitution C G intron_variant BRCA-EU 1 16644995 16644995 single base substitution C G upstream_gene_variant BRCA-EU 1 16648567 16648567 deletion of <=200bp A - intron_variant BRCA-EU 1 16648736 16648736 single base substitution G T intron_variant BRCA-EU 1 16648846 16648846 single base substitution G T intron_variant BRCA-EU 1 16650099 16650099 single base substitution C T intron_variant BRCA-EU 1 16650212 16650212 single base substitution G A intron_variant BRCA-EU 1 16650478 16650478 single base substitution C T intron_variant BRCA-EU 1 16650666 16650666 single base substitution A G intron_variant BRCA-EU 1 16651310 16651310 single base substitution C G intron_variant BRCA-EU 1 16652349 16652349 single base substitution G A intron_variant BRCA-EU 1 16653119 16653119 single base substitution C T intron_variant BRCA-EU 1 16653267 16653267 single base substitution G A intron_variant BRCA-EU 1 16653673 16653673 single base substitution G A intron_variant BRCA-EU 1 16655235 16655235 single base substitution T C intron_variant BRCA-EU 1 16655248 16655248 single base substitution A G intron_variant BRCA-EU 1 16658880 16658880 deletion of <=200bp A - intron_variant BRCA-EU 1 16659485 16659485 single base substitution A C intron_variant BRCA-EU 1 16659722 16659722 single base substitution T A intron_variant BRCA-EU 1 16660002 16660002 insertion of <=200bp - A intron_variant BRCA-EU 1 16661613 16661613 deletion of <=200bp A - intron_variant BRCA-EU 1 16661935 16661935 single base substitution C T intron_variant BRCA-EU 1 16662798 16662798 single base substitution G A intron_variant BRCA-EU 1 16665187 16665187 single base substitution C T intron_variant BRCA-EU 1 16666939 16666939 single base substitution C A intron_variant BRCA-EU 1 16667742 16667742 single base substitution A G intron_variant BRCA-EU 1 16670710 16670710 single base substitution C T intron_variant BRCA-EU 1 16671602 16671602 single base substitution G A intron_variant BRCA-EU 1 16675196 16675196 deletion of <=200bp A - intron_variant BRCA-EU 1 16677341 16677341 single base substitution T A intron_variant BRCA-EU 1 16678941 16678941 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 1 16679749 16679749 single base substitution C A upstream_gene_variant BRCA-EU 1 16680216 16680216 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 16680532 16680532 single base substitution G C upstream_gene_variant BRCA-EU 1 16681495 16681495 single base substitution C T upstream_gene_variant BRCA-EU 1 16682679 16682679 single base substitution G C upstream_gene_variant BRCA-FR 1 16590786 16590786 single base substitution G T intron_variant BRCA-FR 1 16595280 16595280 single base substitution G A intron_variant BRCA-FR 1 16606242 16606242 single base substitution G A intron_variant BRCA-FR 1 16616822 16616822 single base substitution G T downstream_gene_variant BRCA-FR 1 16616822 16616822 single base substitution G T intron_variant BRCA-FR 1 16617422 16617422 single base substitution G C downstream_gene_variant BRCA-FR 1 16617422 16617422 single base substitution G C intron_variant BRCA-FR 1 16622036 16622036 single base substitution C A intron_variant BRCA-FR 1 16628563 16628563 single base substitution T A intron_variant BRCA-FR 1 16636945 16636945 single base substitution G C intron_variant BRCA-FR 1 16637764 16637764 single base substitution G C intron_variant BRCA-FR 1 16645324 16645324 single base substitution G A intron_variant BRCA-FR 1 16645324 16645324 single base substitution G A upstream_gene_variant BRCA-FR 1 16648736 16648736 single base substitution G T intron_variant BRCA-FR 1 16650666 16650666 single base substitution A G intron_variant BRCA-FR 1 16652349 16652349 single base substitution G A intron_variant BRCA-UK 1 16589609 16589609 single base substitution C T intron_variant BRCA-US 1 16577863 16577863 single base substitution G A stop_gained R204* 610C>T BRCA-US 1 16577863 16577863 single base substitution G A stop_gained R486* 1456C>T BRCA-US 1 16577968 16577968 single base substitution C G missense_variant V169L 505G>C BRCA-US 1 16577968 16577968 single base substitution C G missense_variant V451L 1351G>C BRCA-US 1 16579650 16579650 single base substitution G A splice_region_variant BRCA-US 1 16579650 16579650 single base substitution G A stop_gained Q6* 16C>T BRCA-US 1 16641842 16641842 single base substitution C T exon_variant BRCA-US 1 16641842 16641842 single base substitution C T synonymous_variant G24G 72G>A BTCA-JP 1 16577625 16577625 single base substitution G A missense_variant A283V 848C>T BTCA-JP 1 16577625 16577625 single base substitution G A missense_variant A565V 1694C>T BTCA-JP 1 16577925 16577925 insertion of <=200bp - G frameshift_variant P183P? BTCA-JP 1 16577925 16577925 insertion of <=200bp - G frameshift_variant P465P? CESC-US 1 16577299 16577299 single base substitution G T downstream_gene_variant CESC-US 1 16577299 16577299 single base substitution G T missense_variant P674T 2020C>A CESC-US 1 16577630 16577630 single base substitution G C missense_variant I281M 843C>G CESC-US 1 16577630 16577630 single base substitution G C missense_variant I563M 1689C>G CESC-US 1 16577862 16577862 single base substitution C T missense_variant R204Q 611G>A CESC-US 1 16577862 16577862 single base substitution C T missense_variant R486Q 1457G>A CESC-US 1 16577905 16577905 single base substitution C T missense_variant E190K 568G>A CESC-US 1 16577905 16577905 single base substitution C T missense_variant E472K 1414G>A CESC-US 1 16577965 16577965 single base substitution C G missense_variant G170R 508G>C CESC-US 1 16577965 16577965 single base substitution C G missense_variant G452R 1354G>C CLLE-ES 1 16568787 16568787 single base substitution G C downstream_gene_variant CLLE-ES 1 16572084 16572084 single base substitution C T downstream_gene_variant CLLE-ES 1 16629628 16629628 single base substitution T C intron_variant COAD-US 1 16578237 16578237 single base substitution C T missense_variant R361K 1082G>A COAD-US 1 16578237 16578237 single base substitution C T missense_variant R79K 236G>A COAD-US 1 16580190 16580190 insertion of <=200bp - CACTG frameshift_variant W268WQ? COAD-US 1 16580190 16580190 insertion of <=200bp - CACTG upstream_gene_variant COCA-CN 1 16577123 16577123 single base substitution C A 3_prime_UTR_variant COCA-CN 1 16577123 16577123 single base substitution C A downstream_gene_variant COCA-CN 1 16577142 16577142 single base substitution A C 3_prime_UTR_variant COCA-CN 1 16577142 16577142 single base substitution A C downstream_gene_variant COCA-CN 1 16578317 16578317 single base substitution G T intron_variant COCA-CN 1 16578920 16578920 single base substitution A C intron_variant COCA-CN 1 16579545 16579545 single base substitution A C intron_variant COCA-CN 1 16579700 16579700 single base substitution T G 5_prime_UTR_variant COCA-CN 1 16579700 16579700 single base substitution T G intron_variant COCA-CN 1 16582381 16582381 single base substitution G T intron_variant COCA-CN 1 16582381 16582381 single base substitution G T upstream_gene_variant COCA-CN 1 16582404 16582404 single base substitution A T intron_variant COCA-CN 1 16582404 16582404 single base substitution A T upstream_gene_variant COCA-CN 1 16641702 16641702 single base substitution G A exon_variant COCA-CN 1 16641702 16641702 single base substitution G A missense_variant A71V 212C>T EOPC-DE 1 16626720 16626720 single base substitution G T intron_variant EOPC-DE 1 16671410 16671410 single base substitution C A intron_variant ESAD-UK 1 16569422 16569422 single base substitution G A downstream_gene_variant ESAD-UK 1 16571339 16571339 single base substitution C A downstream_gene_variant ESAD-UK 1 16576375 16576375 single base substitution A C 3_prime_UTR_variant ESAD-UK 1 16576375 16576375 single base substitution A C downstream_gene_variant ESAD-UK 1 16578785 16578785 single base substitution G A missense_variant R346W 1036C>T ESAD-UK 1 16578785 16578785 single base substitution G A missense_variant R64W 190C>T ESAD-UK 1 16582368 16582368 single base substitution G A intron_variant ESAD-UK 1 16582368 16582368 single base substitution G A upstream_gene_variant ESAD-UK 1 16583387 16583387 single base substitution T C intron_variant ESAD-UK 1 16583387 16583387 single base substitution T C upstream_gene_variant ESAD-UK 1 16585895 16585895 single base substitution C T intron_variant ESAD-UK 1 16588340 16588340 single base substitution A T intron_variant ESAD-UK 1 16590019 16590019 single base substitution C T intron_variant ESAD-UK 1 16590088 16590088 single base substitution C T intron_variant ESAD-UK 1 16592813 16592813 single base substitution G A intron_variant ESAD-UK 1 16594588 16594588 single base substitution C A intron_variant ESAD-UK 1 16598847 16598847 single base substitution C T intron_variant ESAD-UK 1 16599259 16599259 single base substitution C T intron_variant ESAD-UK 1 16599333 16599333 single base substitution T C intron_variant ESAD-UK 1 16603668 16603668 single base substitution A C intron_variant ESAD-UK 1 16603896 16603896 single base substitution G A intron_variant ESAD-UK 1 16605406 16605406 single base substitution T C intron_variant ESAD-UK 1 16607974 16607974 single base substitution T G intron_variant ESAD-UK 1 16609597 16609597 single base substitution G A intron_variant ESAD-UK 1 16610334 16610334 single base substitution G C intron_variant ESAD-UK 1 16610563 16610563 single base substitution C G intron_variant ESAD-UK 1 16613200 16613200 single base substitution G A intron_variant ESAD-UK 1 16614944 16614944 single base substitution T A downstream_gene_variant ESAD-UK 1 16614944 16614944 single base substitution T A intron_variant ESAD-UK 1 16617937 16617937 single base substitution G A downstream_gene_variant ESAD-UK 1 16617937 16617937 single base substitution G A intron_variant ESAD-UK 1 16618097 16618097 single base substitution G T downstream_gene_variant ESAD-UK 1 16618097 16618097 single base substitution G T intron_variant ESAD-UK 1 16622485 16622485 single base substitution T C intron_variant ESAD-UK 1 16624768 16624768 single base substitution A G intron_variant ESAD-UK 1 16625526 16625526 single base substitution G A intron_variant ESAD-UK 1 16627147 16627147 single base substitution G A intron_variant ESAD-UK 1 16630342 16630342 single base substitution G A intron_variant ESAD-UK 1 16631123 16631123 single base substitution C T intron_variant ESAD-UK 1 16632219 16632219 deletion of <=200bp A - intron_variant ESAD-UK 1 16632536 16632536 single base substitution G T intron_variant ESAD-UK 1 16632747 16632747 single base substitution C T intron_variant ESAD-UK 1 16633384 16633384 single base substitution C G intron_variant ESAD-UK 1 16634793 16634793 single base substitution A C intron_variant ESAD-UK 1 16635712 16635712 single base substitution G A intron_variant ESAD-UK 1 16637684 16637684 single base substitution A G intron_variant ESAD-UK 1 16643903 16643903 single base substitution G A intron_variant ESAD-UK 1 16643903 16643903 single base substitution G A upstream_gene_variant ESAD-UK 1 16647579 16647579 single base substitution G A intron_variant ESAD-UK 1 16648226 16648226 single base substitution C A intron_variant ESAD-UK 1 16649665 16649665 single base substitution G A intron_variant ESAD-UK 1 16650013 16650013 single base substitution C T intron_variant ESAD-UK 1 16650789 16650789 single base substitution A C intron_variant ESAD-UK 1 16651942 16651942 single base substitution G A intron_variant ESAD-UK 1 16652097 16652097 single base substitution A T intron_variant ESAD-UK 1 16652396 16652396 single base substitution C T intron_variant ESAD-UK 1 16654387 16654387 single base substitution G T intron_variant ESAD-UK 1 16654682 16654682 single base substitution C A intron_variant ESAD-UK 1 16655125 16655125 single base substitution C T intron_variant ESAD-UK 1 16657194 16657194 single base substitution T C intron_variant ESAD-UK 1 16659803 16659803 single base substitution G A intron_variant ESAD-UK 1 16666796 16666796 single base substitution A G intron_variant ESAD-UK 1 16669450 16669450 single base substitution C A intron_variant ESAD-UK 1 16672547 16672547 single base substitution A G intron_variant ESAD-UK 1 16675309 16675309 single base substitution A T intron_variant ESAD-UK 1 16677265 16677265 insertion of <=200bp - A intron_variant ESAD-UK 1 16678176 16678176 single base substitution C T intron_variant ESAD-UK 1 16679003 16679003 single base substitution C T upstream_gene_variant ESAD-UK 1 16680485 16680485 single base substitution A C upstream_gene_variant ESAD-UK 1 16682075 16682075 single base substitution C T upstream_gene_variant ESAD-UK 1 16682120 16682120 single base substitution A C upstream_gene_variant ESAD-UK 1 16683574 16683574 single base substitution G A upstream_gene_variant KIRC-US 1 16577186 16577186 single base substitution G C downstream_gene_variant KIRC-US 1 16577186 16577186 single base substitution G C stop_gained Y711* 2133C>G KIRC-US 1 16583146 16583146 single base substitution T G missense_variant E204A 611A>C KIRC-US 1 16583146 16583146 single base substitution T G upstream_gene_variant KIRP-US 1 16577319 16577319 insertion of <=200bp - TATTAAA downstream_gene_variant KIRP-US 1 16577319 16577319 insertion of <=200bp - TATTAAA frameshift_variant S667SLI? LAML-KR 1 16641899 16641899 single base substitution C T synonymous_variant S5S 15G>A LAML-KR 1 16641899 16641899 single base substitution C T upstream_gene_variant LAML-KR 1 16658070 16658070 single base substitution T A intron_variant LIAD-FR 1 16577371 16577371 single base substitution C A downstream_gene_variant LIAD-FR 1 16577371 16577371 single base substitution C A missense_variant D650Y 1948G>T LICA-CN 1 16577182 16577182 single base substitution C A downstream_gene_variant LICA-CN 1 16577182 16577182 single base substitution C A missense_variant V713L 2137G>T LICA-CN 1 16583196 16583196 single base substitution C T synonymous_variant V187V 561G>A LICA-CN 1 16583196 16583196 single base substitution C T upstream_gene_variant LICA-FR 1 16578804 16578804 single base substitution C T synonymous_variant L339L 1017G>A LICA-FR 1 16578804 16578804 single base substitution C T synonymous_variant L57L 171G>A LICA-FR 1 16578817 16578817 single base substitution C A missense_variant G335V 1004G>T LICA-FR 1 16578817 16578817 single base substitution C A missense_variant G53V 158G>T LICA-FR 1 16583135 16583135 single base substitution C T missense_variant D208N 622G>A LICA-FR 1 16583135 16583135 single base substitution C T upstream_gene_variant LICA-FR 1 16588052 16588052 single base substitution A C intron_variant LICA-FR 1 16598609 16598609 single base substitution C T intron_variant LICA-FR 1 16598744 16598744 single base substitution T A intron_variant LICA-FR 1 16608872 16608872 single base substitution C A intron_variant LICA-FR 1 16630609 16630610 deletion of <=200bp TT - intron_variant LICA-FR 1 16641853 16641853 single base substitution C A exon_variant LICA-FR 1 16641853 16641853 single base substitution C A missense_variant V21L 61G>T LICA-FR 1 16648236 16648236 single base substitution A T intron_variant LICA-FR 1 16674518 16674518 single base substitution G A intron_variant LIHC-US 1 16577289 16577289 single base substitution C A downstream_gene_variant LIHC-US 1 16577289 16577289 single base substitution C A missense_variant S677I 2030G>T LIHC-US 1 16577608 16577608 insertion of <=200bp - C frameshift_variant P289R? LIHC-US 1 16577608 16577608 insertion of <=200bp - C frameshift_variant P571R? LIHC-US 1 16578144 16578145 deletion of <=200bp TG - frameshift_variant Q110 LIHC-US 1 16578144 16578145 deletion of <=200bp TG - frameshift_variant Q392 LINC-JP 1 16573019 16573019 single base substitution G T downstream_gene_variant LINC-JP 1 16578761 16578761 single base substitution A G intron_variant LINC-JP 1 16579818 16579818 single base substitution T C 5_prime_UTR_variant LINC-JP 1 16579818 16579818 single base substitution T C intron_variant LINC-JP 1 16580779 16580779 single base substitution T C intron_variant LINC-JP 1 16580779 16580779 single base substitution T C upstream_gene_variant LINC-JP 1 16583982 16583982 deletion of <=200bp A - intron_variant LINC-JP 1 16583982 16583982 deletion of <=200bp A - upstream_gene_variant LINC-JP 1 16608730 16608730 single base substitution C T intron_variant LINC-JP 1 16623930 16623938 deletion of <=200bp AATAATGGA - intron_variant LINC-JP 1 16635235 16635235 single base substitution G T intron_variant LINC-JP 1 16635833 16635833 single base substitution A C intron_variant LINC-JP 1 16642979 16642979 single base substitution C T intron_variant LINC-JP 1 16642979 16642979 single base substitution C T upstream_gene_variant LINC-JP 1 16658495 16658495 single base substitution G T intron_variant LINC-JP 1 16664872 16664872 single base substitution G A intron_variant LINC-JP 1 16679238 16679238 single base substitution C G upstream_gene_variant LIRI-JP 1 16569831 16569831 single base substitution C G downstream_gene_variant LIRI-JP 1 16575459 16575483 deletion of <=200bp CTTATCAGTACACTTAGGCTGCCAG - 3_prime_UTR_variant LIRI-JP 1 16575459 16575483 deletion of <=200bp CTTATCAGTACACTTAGGCTGCCAG - downstream_gene_variant LIRI-JP 1 16575900 16575900 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 16575900 16575900 single base substitution T C downstream_gene_variant LIRI-JP 1 16576342 16576342 single base substitution A G 3_prime_UTR_variant LIRI-JP 1 16576342 16576342 single base substitution A G downstream_gene_variant LIRI-JP 1 16576849 16576849 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 16576849 16576849 single base substitution T C downstream_gene_variant LIRI-JP 1 16577423 16577423 single base substitution G A downstream_gene_variant LIRI-JP 1 16577423 16577423 single base substitution G A synonymous_variant G632G 1896C>T LIRI-JP 1 16577781 16577781 single base substitution T G missense_variant N231T 692A>C LIRI-JP 1 16577781 16577781 single base substitution T G missense_variant N513T 1538A>C LIRI-JP 1 16581231 16581231 single base substitution A C intron_variant LIRI-JP 1 16581231 16581231 single base substitution A C upstream_gene_variant LIRI-JP 1 16581258 16581258 single base substitution G C intron_variant LIRI-JP 1 16581258 16581258 single base substitution G C upstream_gene_variant LIRI-JP 1 16583792 16583792 single base substitution C T intron_variant LIRI-JP 1 16583792 16583792 single base substitution C T upstream_gene_variant LIRI-JP 1 16588017 16588017 single base substitution T G intron_variant LIRI-JP 1 16589922 16589922 single base substitution A G intron_variant LIRI-JP 1 16590817 16590817 single base substitution T C intron_variant LIRI-JP 1 16590824 16590824 single base substitution T C intron_variant LIRI-JP 1 16591798 16591798 single base substitution C A intron_variant LIRI-JP 1 16592546 16592546 single base substitution A C intron_variant LIRI-JP 1 16593452 16593452 single base substitution A G intron_variant LIRI-JP 1 16593748 16593748 single base substitution A T intron_variant LIRI-JP 1 16595676 16595676 single base substitution G C intron_variant LIRI-JP 1 16596188 16596188 single base substitution T C intron_variant LIRI-JP 1 16599183 16599183 single base substitution C A intron_variant LIRI-JP 1 16599316 16599316 single base substitution G T intron_variant LIRI-JP 1 16601756 16601756 single base substitution A C intron_variant LIRI-JP 1 16601794 16601794 single base substitution A G intron_variant LIRI-JP 1 16604907 16604907 single base substitution T G intron_variant LIRI-JP 1 16604978 16604978 single base substitution T C intron_variant LIRI-JP 1 16605427 16605427 single base substitution C A intron_variant LIRI-JP 1 16606038 16606038 single base substitution C A intron_variant LIRI-JP 1 16608489 16608489 single base substitution C T intron_variant LIRI-JP 1 16610770 16610770 single base substitution T C intron_variant LIRI-JP 1 16611362 16611362 single base substitution C T intron_variant LIRI-JP 1 16612334 16612334 single base substitution A G intron_variant LIRI-JP 1 16616255 16616255 single base substitution C T downstream_gene_variant LIRI-JP 1 16616255 16616255 single base substitution C T intron_variant LIRI-JP 1 16618649 16618649 single base substitution T C downstream_gene_variant LIRI-JP 1 16618649 16618649 single base substitution T C intron_variant LIRI-JP 1 16619657 16619657 single base substitution T C exon_variant LIRI-JP 1 16619657 16619657 single base substitution T C intron_variant LIRI-JP 1 16620007 16620007 single base substitution C G exon_variant LIRI-JP 1 16620007 16620007 single base substitution C G intron_variant LIRI-JP 1 16624578 16624578 single base substitution G A intron_variant LIRI-JP 1 16625975 16625975 single base substitution G C intron_variant LIRI-JP 1 16626686 16626686 single base substitution T C intron_variant LIRI-JP 1 16629168 16629168 single base substitution C T intron_variant LIRI-JP 1 16629390 16629390 single base substitution C T intron_variant LIRI-JP 1 16631046 16631046 single base substitution C T intron_variant LIRI-JP 1 16631047 16631047 single base substitution C A intron_variant LIRI-JP 1 16631127 16631127 single base substitution A T intron_variant LIRI-JP 1 16631283 16631283 single base substitution G C intron_variant LIRI-JP 1 16631934 16631934 single base substitution G A intron_variant LIRI-JP 1 16638271 16638271 single base substitution T C intron_variant LIRI-JP 1 16638431 16638431 single base substitution T C intron_variant LIRI-JP 1 16638575 16638575 single base substitution C T intron_variant LIRI-JP 1 16643133 16643133 single base substitution G C intron_variant LIRI-JP 1 16643133 16643133 single base substitution G C upstream_gene_variant LIRI-JP 1 16643287 16643287 single base substitution A C intron_variant LIRI-JP 1 16643287 16643287 single base substitution A C upstream_gene_variant LIRI-JP 1 16647616 16647616 single base substitution C A intron_variant LIRI-JP 1 16648365 16648365 single base substitution T C intron_variant LIRI-JP 1 16648890 16648890 single base substitution G T intron_variant LIRI-JP 1 16649060 16649060 single base substitution G A intron_variant LIRI-JP 1 16649455 16649455 single base substitution A C intron_variant LIRI-JP 1 16649463 16649463 single base substitution T C intron_variant LIRI-JP 1 16654191 16654191 single base substitution T C intron_variant LIRI-JP 1 16657012 16657012 single base substitution T C intron_variant LIRI-JP 1 16657639 16657639 single base substitution T C intron_variant LIRI-JP 1 16658454 16658454 single base substitution G C intron_variant LIRI-JP 1 16659276 16659276 single base substitution T C intron_variant LIRI-JP 1 16659706 16659706 single base substitution G A intron_variant LIRI-JP 1 16660118 16660118 single base substitution A C intron_variant LIRI-JP 1 16666413 16666413 single base substitution G A intron_variant LIRI-JP 1 16667449 16667449 single base substitution T C intron_variant LIRI-JP 1 16667957 16667957 single base substitution T A intron_variant LIRI-JP 1 16677049 16677049 single base substitution C T intron_variant LIRI-JP 1 16677181 16677181 single base substitution G A intron_variant LIRI-JP 1 16677387 16677387 single base substitution T C intron_variant LIRI-JP 1 16681940 16681940 single base substitution T G upstream_gene_variant LUSC-KR 1 16573339 16573339 single base substitution G A 3_prime_UTR_variant LUSC-KR 1 16573339 16573339 single base substitution G A downstream_gene_variant LUSC-KR 1 16576836 16576836 single base substitution A G 3_prime_UTR_variant LUSC-KR 1 16576836 16576836 single base substitution A G downstream_gene_variant LUSC-KR 1 16577794 16577794 single base substitution C T missense_variant A227T 679G>A LUSC-KR 1 16577794 16577794 single base substitution C T missense_variant A509T 1525G>A LUSC-KR 1 16577908 16577908 single base substitution G C missense_variant P189A 565C>G LUSC-KR 1 16577908 16577908 single base substitution G C missense_variant P471A 1411C>G LUSC-KR 1 16579070 16579070 single base substitution C T intron_variant LUSC-KR 1 16582053 16582053 single base substitution C T intron_variant LUSC-KR 1 16582053 16582053 single base substitution C T upstream_gene_variant LUSC-KR 1 16589168 16589168 single base substitution G A intron_variant LUSC-KR 1 16604265 16604265 single base substitution G C intron_variant LUSC-KR 1 16605800 16605800 single base substitution C G intron_variant LUSC-KR 1 16616585 16616585 single base substitution G A downstream_gene_variant LUSC-KR 1 16616585 16616585 single base substitution G A intron_variant LUSC-KR 1 16620109 16620109 single base substitution C A exon_variant LUSC-KR 1 16620109 16620109 single base substitution C A intron_variant LUSC-KR 1 16620110 16620110 single base substitution C A exon_variant LUSC-KR 1 16620110 16620110 single base substitution C A intron_variant LUSC-KR 1 16635150 16635150 single base substitution C A intron_variant LUSC-KR 1 16635258 16635258 single base substitution G T intron_variant LUSC-KR 1 16639135 16639135 single base substitution T C intron_variant LUSC-KR 1 16643317 16643317 single base substitution G C intron_variant LUSC-KR 1 16643317 16643317 single base substitution G C upstream_gene_variant LUSC-KR 1 16647994 16647994 single base substitution C T intron_variant LUSC-KR 1 16654828 16654828 single base substitution G C intron_variant LUSC-KR 1 16655687 16655687 single base substitution T A intron_variant LUSC-KR 1 16665324 16665324 single base substitution G T intron_variant LUSC-KR 1 16666008 16666008 single base substitution A T intron_variant LUSC-KR 1 16675791 16675791 single base substitution A G intron_variant LUSC-US 1 16577480 16577480 single base substitution G A downstream_gene_variant LUSC-US 1 16577480 16577480 single base substitution G A synonymous_variant S613S 1839C>T LUSC-US 1 16577630 16577630 single base substitution G C missense_variant I281M 843C>G LUSC-US 1 16577630 16577630 single base substitution G C missense_variant I563M 1689C>G LUSC-US 1 16577801 16577801 single base substitution C G synonymous_variant L224L 672G>C LUSC-US 1 16577801 16577801 single base substitution C G synonymous_variant L506L 1518G>C MALY-DE 1 16572136 16572136 single base substitution A G downstream_gene_variant MALY-DE 1 16576970 16576971 deletion of <=200bp AT - 3_prime_UTR_variant MALY-DE 1 16576970 16576971 deletion of <=200bp AT - downstream_gene_variant MALY-DE 1 16584494 16584494 single base substitution A T intron_variant MALY-DE 1 16584494 16584494 single base substitution A T upstream_gene_variant MALY-DE 1 16612120 16612120 deletion of <=200bp A - intron_variant MALY-DE 1 16615559 16615559 single base substitution C T downstream_gene_variant MALY-DE 1 16615559 16615559 single base substitution C T intron_variant MALY-DE 1 16630568 16630568 single base substitution G C intron_variant MALY-DE 1 16637582 16637582 single base substitution G A intron_variant MALY-DE 1 16643773 16643773 single base substitution C T intron_variant MALY-DE 1 16643773 16643773 single base substitution C T upstream_gene_variant MALY-DE 1 16644554 16644554 single base substitution G C intron_variant MALY-DE 1 16644554 16644554 single base substitution G C upstream_gene_variant MALY-DE 1 16645032 16645032 single base substitution A G intron_variant MALY-DE 1 16645032 16645032 single base substitution A G upstream_gene_variant MALY-DE 1 16647374 16647374 single base substitution G T intron_variant MALY-DE 1 16654288 16654288 single base substitution C G intron_variant MALY-DE 1 16662723 16662723 single base substitution G A intron_variant MALY-DE 1 16677794 16677794 single base substitution A G intron_variant MALY-DE 1 16679271 16679271 single base substitution C A upstream_gene_variant MELA-AU 1 16568746 16568746 single base substitution G A downstream_gene_variant MELA-AU 1 16568761 16568761 single base substitution G A downstream_gene_variant MELA-AU 1 16569236 16569237 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 16569286 16569286 single base substitution G A downstream_gene_variant MELA-AU 1 16569425 16569425 single base substitution G A downstream_gene_variant MELA-AU 1 16569466 16569466 single base substitution C A downstream_gene_variant MELA-AU 1 16569481 16569481 single base substitution G A downstream_gene_variant MELA-AU 1 16570019 16570019 single base substitution G A downstream_gene_variant MELA-AU 1 16570047 16570048 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 16570423 16570423 single base substitution T A downstream_gene_variant MELA-AU 1 16570926 16570926 single base substitution G A downstream_gene_variant MELA-AU 1 16571084 16571084 single base substitution G A downstream_gene_variant MELA-AU 1 16571295 16571295 single base substitution T C downstream_gene_variant MELA-AU 1 16572264 16572264 single base substitution G A downstream_gene_variant MELA-AU 1 16572272 16572272 single base substitution C A downstream_gene_variant MELA-AU 1 16572366 16572366 single base substitution T C downstream_gene_variant MELA-AU 1 16573089 16573089 single base substitution C T downstream_gene_variant MELA-AU 1 16573294 16573294 single base substitution G A downstream_gene_variant MELA-AU 1 16573809 16573809 single base substitution G A 3_prime_UTR_variant MELA-AU 1 16573809 16573809 single base substitution G A downstream_gene_variant MELA-AU 1 16573869 16573869 single base substitution G A 3_prime_UTR_variant MELA-AU 1 16573869 16573869 single base substitution G A downstream_gene_variant MELA-AU 1 16574486 16574486 single base substitution G A 3_prime_UTR_variant MELA-AU 1 16574486 16574486 single base substitution G A downstream_gene_variant MELA-AU 1 16574648 16574648 single base substitution G A 3_prime_UTR_variant MELA-AU 1 16574648 16574648 single base substitution G A downstream_gene_variant MELA-AU 1 16575994 16575994 single base substitution G A 3_prime_UTR_variant MELA-AU 1 16575994 16575994 single base substitution G A downstream_gene_variant MELA-AU 1 16577150 16577150 single base substitution G A 3_prime_UTR_variant MELA-AU 1 16577150 16577150 single base substitution G A downstream_gene_variant MELA-AU 1 16577823 16577823 single base substitution G A missense_variant S217F 650C>T MELA-AU 1 16577823 16577823 single base substitution G A missense_variant S499F 1496C>T MELA-AU 1 16578283 16578283 single base substitution G A intron_variant MELA-AU 1 16579339 16579339 single base substitution G A intron_variant MELA-AU 1 16579618 16579618 single base substitution G A synonymous_variant I16I 48C>T MELA-AU 1 16579618 16579618 single base substitution G A synonymous_variant I298I 894C>T MELA-AU 1 16579724 16579724 single base substitution G A 5_prime_UTR_variant MELA-AU 1 16579724 16579724 single base substitution G A intron_variant MELA-AU 1 16580451 16580451 single base substitution C A intron_variant MELA-AU 1 16580451 16580451 single base substitution C A upstream_gene_variant MELA-AU 1 16580619 16580619 single base substitution G A intron_variant MELA-AU 1 16580619 16580619 single base substitution G A upstream_gene_variant MELA-AU 1 16580735 16580735 insertion of <=200bp - A intron_variant MELA-AU 1 16580735 16580735 insertion of <=200bp - A upstream_gene_variant MELA-AU 1 16581344 16581344 single base substitution G A intron_variant MELA-AU 1 16581344 16581344 single base substitution G A upstream_gene_variant MELA-AU 1 16582548 16582548 single base substitution G A intron_variant MELA-AU 1 16582548 16582548 single base substitution G A upstream_gene_variant MELA-AU 1 16583088 16583088 single base substitution C T intron_variant MELA-AU 1 16583088 16583088 single base substitution C T upstream_gene_variant MELA-AU 1 16583147 16583147 single base substitution C T missense_variant E204K 610G>A MELA-AU 1 16583147 16583147 single base substitution C T upstream_gene_variant MELA-AU 1 16583448 16583448 single base substitution A G intron_variant MELA-AU 1 16583448 16583448 single base substitution A G upstream_gene_variant MELA-AU 1 16583911 16583911 single base substitution C A intron_variant MELA-AU 1 16583911 16583911 single base substitution C A upstream_gene_variant MELA-AU 1 16584038 16584038 single base substitution G A intron_variant MELA-AU 1 16584038 16584038 single base substitution G A upstream_gene_variant MELA-AU 1 16585305 16585305 single base substitution C A intron_variant MELA-AU 1 16585324 16585324 single base substitution T A intron_variant MELA-AU 1 16586799 16586799 single base substitution G A intron_variant MELA-AU 1 16587181 16587181 single base substitution G A intron_variant MELA-AU 1 16587343 16587343 single base substitution G A intron_variant MELA-AU 1 16588629 16588629 single base substitution A G intron_variant MELA-AU 1 16588797 16588797 single base substitution A T intron_variant MELA-AU 1 16589095 16589095 single base substitution G A intron_variant MELA-AU 1 16589104 16589104 single base substitution G A intron_variant MELA-AU 1 16591806 16591806 single base substitution G A intron_variant MELA-AU 1 16592170 16592170 single base substitution A C intron_variant MELA-AU 1 16592639 16592639 single base substitution G A intron_variant MELA-AU 1 16592790 16592790 single base substitution G A intron_variant MELA-AU 1 16592882 16592882 single base substitution G A intron_variant MELA-AU 1 16593187 16593187 single base substitution A C intron_variant MELA-AU 1 16593248 16593248 single base substitution G A intron_variant MELA-AU 1 16593319 16593319 single base substitution G A intron_variant MELA-AU 1 16593616 16593616 single base substitution G A intron_variant MELA-AU 1 16594322 16594322 single base substitution C G intron_variant MELA-AU 1 16594503 16594503 single base substitution C T intron_variant MELA-AU 1 16594619 16594619 single base substitution G A intron_variant MELA-AU 1 16596506 16596506 single base substitution C G intron_variant MELA-AU 1 16596620 16596620 single base substitution G A intron_variant MELA-AU 1 16596621 16596621 single base substitution G A intron_variant MELA-AU 1 16596867 16596867 single base substitution G A intron_variant MELA-AU 1 16597460 16597460 single base substitution G A intron_variant MELA-AU 1 16597467 16597467 single base substitution G A intron_variant MELA-AU 1 16597667 16597667 single base substitution G A intron_variant MELA-AU 1 16597985 16597985 single base substitution A C intron_variant MELA-AU 1 16599247 16599247 single base substitution G A intron_variant MELA-AU 1 16600099 16600099 single base substitution G A intron_variant MELA-AU 1 16600535 16600535 single base substitution G A intron_variant MELA-AU 1 16601162 16601162 single base substitution C G intron_variant MELA-AU 1 16601522 16601522 single base substitution T C intron_variant MELA-AU 1 16601769 16601769 single base substitution G A intron_variant MELA-AU 1 16601818 16601818 single base substitution T A intron_variant MELA-AU 1 16601871 16601871 single base substitution G A intron_variant MELA-AU 1 16602173 16602173 single base substitution C T intron_variant MELA-AU 1 16602587 16602587 single base substitution G A intron_variant MELA-AU 1 16602755 16602755 single base substitution G T intron_variant MELA-AU 1 16603166 16603166 single base substitution G A intron_variant MELA-AU 1 16603623 16603623 single base substitution G A intron_variant MELA-AU 1 16603980 16603980 single base substitution G A intron_variant MELA-AU 1 16604147 16604147 single base substitution G A intron_variant MELA-AU 1 16604397 16604397 single base substitution C T intron_variant MELA-AU 1 16604966 16604966 single base substitution G A intron_variant MELA-AU 1 16605053 16605053 single base substitution G A intron_variant MELA-AU 1 16605832 16605832 single base substitution G A intron_variant MELA-AU 1 16607298 16607298 single base substitution G A intron_variant MELA-AU 1 16607693 16607693 single base substitution G A intron_variant MELA-AU 1 16607739 16607739 single base substitution G A intron_variant MELA-AU 1 16607970 16607970 single base substitution T G intron_variant MELA-AU 1 16608112 16608112 single base substitution G A intron_variant MELA-AU 1 16608287 16608287 single base substitution G T intron_variant MELA-AU 1 16608661 16608661 single base substitution T C intron_variant MELA-AU 1 16609173 16609173 single base substitution C T intron_variant MELA-AU 1 16609609 16609609 single base substitution A G intron_variant MELA-AU 1 16609868 16609868 single base substitution G A intron_variant MELA-AU 1 16610126 16610126 single base substitution G A intron_variant MELA-AU 1 16610320 16610321 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 16610566 16610566 single base substitution G A intron_variant MELA-AU 1 16610744 16610744 single base substitution G C intron_variant MELA-AU 1 16611036 16611036 deletion of <=200bp A - intron_variant MELA-AU 1 16612268 16612268 single base substitution G A intron_variant MELA-AU 1 16614227 16614227 single base substitution G A downstream_gene_variant MELA-AU 1 16614227 16614227 single base substitution G A intron_variant MELA-AU 1 16614294 16614294 single base substitution C T downstream_gene_variant MELA-AU 1 16614294 16614294 single base substitution C T intron_variant MELA-AU 1 16614448 16614448 single base substitution T A downstream_gene_variant MELA-AU 1 16614448 16614448 single base substitution T A intron_variant MELA-AU 1 16614449 16614449 single base substitution G A downstream_gene_variant MELA-AU 1 16614449 16614449 single base substitution G A intron_variant MELA-AU 1 16614568 16614568 single base substitution G A downstream_gene_variant MELA-AU 1 16614568 16614568 single base substitution G A intron_variant MELA-AU 1 16614756 16614756 single base substitution C T downstream_gene_variant MELA-AU 1 16614756 16614756 single base substitution C T intron_variant MELA-AU 1 16614850 16614851 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 16614850 16614851 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 16615286 16615286 single base substitution C G downstream_gene_variant MELA-AU 1 16615286 16615286 single base substitution C G intron_variant MELA-AU 1 16615347 16615347 single base substitution G A downstream_gene_variant MELA-AU 1 16615347 16615347 single base substitution G A intron_variant MELA-AU 1 16615909 16615909 single base substitution A T downstream_gene_variant MELA-AU 1 16615909 16615909 single base substitution A T intron_variant MELA-AU 1 16615918 16615918 single base substitution A T downstream_gene_variant MELA-AU 1 16615918 16615918 single base substitution A T intron_variant MELA-AU 1 16616130 16616130 single base substitution C T downstream_gene_variant MELA-AU 1 16616130 16616130 single base substitution C T intron_variant MELA-AU 1 16616410 16616410 deletion of <=200bp A - downstream_gene_variant MELA-AU 1 16616410 16616410 deletion of <=200bp A - intron_variant MELA-AU 1 16616432 16616432 single base substitution T A downstream_gene_variant MELA-AU 1 16616432 16616432 single base substitution T A intron_variant MELA-AU 1 16617005 16617005 single base substitution G A downstream_gene_variant MELA-AU 1 16617005 16617005 single base substitution G A intron_variant MELA-AU 1 16617443 16617443 single base substitution A G downstream_gene_variant MELA-AU 1 16617443 16617443 single base substitution A G intron_variant MELA-AU 1 16617451 16617451 single base substitution A G downstream_gene_variant MELA-AU 1 16617451 16617451 single base substitution A G intron_variant MELA-AU 1 16618941 16618941 single base substitution A T exon_variant MELA-AU 1 16618941 16618941 single base substitution A T intron_variant MELA-AU 1 16619070 16619070 single base substitution G A exon_variant MELA-AU 1 16619070 16619070 single base substitution G A intron_variant MELA-AU 1 16619871 16619871 single base substitution C T exon_variant MELA-AU 1 16619871 16619871 single base substitution C T intron_variant MELA-AU 1 16619934 16619934 single base substitution T A exon_variant MELA-AU 1 16619934 16619934 single base substitution T A intron_variant MELA-AU 1 16620188 16620188 single base substitution G A exon_variant MELA-AU 1 16620188 16620188 single base substitution G A intron_variant MELA-AU 1 16620952 16620952 single base substitution G A exon_variant MELA-AU 1 16620952 16620952 single base substitution G A intron_variant MELA-AU 1 16621011 16621011 single base substitution A G exon_variant MELA-AU 1 16621011 16621011 single base substitution A G intron_variant MELA-AU 1 16621477 16621477 deletion of <=200bp A - intron_variant MELA-AU 1 16622126 16622126 single base substitution G A intron_variant MELA-AU 1 16622309 16622309 single base substitution G A intron_variant MELA-AU 1 16622311 16622311 single base substitution G A intron_variant MELA-AU 1 16622694 16622694 single base substitution G A intron_variant MELA-AU 1 16622849 16622849 single base substitution G A intron_variant MELA-AU 1 16623804 16623804 single base substitution A C intron_variant MELA-AU 1 16625697 16625697 single base substitution G A intron_variant MELA-AU 1 16625920 16625920 single base substitution C T intron_variant MELA-AU 1 16626445 16626445 single base substitution A G intron_variant MELA-AU 1 16626476 16626476 single base substitution T A intron_variant MELA-AU 1 16627348 16627348 single base substitution G A intron_variant MELA-AU 1 16627385 16627385 single base substitution G C intron_variant MELA-AU 1 16627723 16627723 insertion of <=200bp - T intron_variant MELA-AU 1 16628051 16628052 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 16628437 16628437 single base substitution G A intron_variant MELA-AU 1 16629508 16629508 single base substitution G A intron_variant MELA-AU 1 16630582 16630582 single base substitution G A intron_variant MELA-AU 1 16631371 16631371 single base substitution G A intron_variant MELA-AU 1 16631530 16631530 single base substitution C T intron_variant MELA-AU 1 16631543 16631543 single base substitution A C intron_variant MELA-AU 1 16631966 16631966 single base substitution C T intron_variant MELA-AU 1 16632102 16632102 single base substitution G A intron_variant MELA-AU 1 16632303 16632303 single base substitution G A exon_variant MELA-AU 1 16632303 16632303 single base substitution G A missense_variant S121L 362C>T MELA-AU 1 16632833 16632833 single base substitution G A intron_variant MELA-AU 1 16633364 16633364 single base substitution G A intron_variant MELA-AU 1 16633387 16633387 single base substitution G A intron_variant MELA-AU 1 16633388 16633388 single base substitution A G intron_variant MELA-AU 1 16633590 16633590 single base substitution G A intron_variant MELA-AU 1 16633612 16633612 single base substitution C T intron_variant MELA-AU 1 16634433 16634433 single base substitution C T intron_variant MELA-AU 1 16635098 16635098 single base substitution G A intron_variant MELA-AU 1 16635111 16635111 single base substitution C T intron_variant MELA-AU 1 16635221 16635221 single base substitution G A intron_variant MELA-AU 1 16635466 16635466 single base substitution G A intron_variant MELA-AU 1 16635535 16635535 single base substitution G A intron_variant MELA-AU 1 16635540 16635540 single base substitution G A intron_variant MELA-AU 1 16635861 16635861 single base substitution C T intron_variant MELA-AU 1 16635966 16635966 single base substitution G A intron_variant MELA-AU 1 16636057 16636057 single base substitution G A intron_variant MELA-AU 1 16636362 16636363 multiple base substitution (>=2bp and <=200bp) AA CC intron_variant MELA-AU 1 16636702 16636702 single base substitution A C intron_variant MELA-AU 1 16637419 16637419 single base substitution A C intron_variant MELA-AU 1 16638540 16638540 single base substitution A C intron_variant MELA-AU 1 16639014 16639014 single base substitution G A intron_variant MELA-AU 1 16639082 16639082 single base substitution G A intron_variant MELA-AU 1 16639665 16639665 single base substitution A T intron_variant MELA-AU 1 16639737 16639738 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 16639769 16639769 single base substitution A G intron_variant MELA-AU 1 16639853 16639853 single base substitution A G intron_variant MELA-AU 1 16641209 16641209 single base substitution C T intron_variant MELA-AU 1 16641289 16641289 single base substitution G A intron_variant MELA-AU 1 16641460 16641460 single base substitution A G intron_variant MELA-AU 1 16641583 16641583 single base substitution G A intron_variant MELA-AU 1 16642682 16642682 single base substitution A C intron_variant MELA-AU 1 16642682 16642682 single base substitution A C upstream_gene_variant MELA-AU 1 16643052 16643052 single base substitution G A intron_variant MELA-AU 1 16643052 16643052 single base substitution G A upstream_gene_variant MELA-AU 1 16643603 16643603 single base substitution C T intron_variant MELA-AU 1 16643603 16643603 single base substitution C T upstream_gene_variant MELA-AU 1 16643930 16643930 single base substitution A C intron_variant MELA-AU 1 16643930 16643930 single base substitution A C upstream_gene_variant MELA-AU 1 16643932 16643933 multiple base substitution (>=2bp and <=200bp) TC AA intron_variant MELA-AU 1 16643932 16643933 multiple base substitution (>=2bp and <=200bp) TC AA upstream_gene_variant MELA-AU 1 16644421 16644421 single base substitution A T intron_variant MELA-AU 1 16644421 16644421 single base substitution A T upstream_gene_variant MELA-AU 1 16644967 16644967 single base substitution G A intron_variant MELA-AU 1 16644967 16644967 single base substitution G A upstream_gene_variant MELA-AU 1 16645065 16645065 single base substitution T C intron_variant MELA-AU 1 16645065 16645065 single base substitution T C upstream_gene_variant MELA-AU 1 16645068 16645068 single base substitution A T intron_variant MELA-AU 1 16645068 16645068 single base substitution A T upstream_gene_variant MELA-AU 1 16645120 16645120 single base substitution G A intron_variant MELA-AU 1 16645120 16645120 single base substitution G A upstream_gene_variant MELA-AU 1 16645246 16645246 single base substitution G A intron_variant MELA-AU 1 16645246 16645246 single base substitution G A upstream_gene_variant MELA-AU 1 16646371 16646371 single base substitution C T intron_variant MELA-AU 1 16646371 16646371 single base substitution C T upstream_gene_variant MELA-AU 1 16646390 16646390 single base substitution A T intron_variant MELA-AU 1 16646390 16646390 single base substitution A T upstream_gene_variant MELA-AU 1 16646591 16646591 single base substitution A C intron_variant MELA-AU 1 16646591 16646591 single base substitution A C upstream_gene_variant MELA-AU 1 16646674 16646674 single base substitution G A intron_variant MELA-AU 1 16646674 16646674 single base substitution G A upstream_gene_variant MELA-AU 1 16646766 16646766 single base substitution G A intron_variant MELA-AU 1 16646766 16646766 single base substitution G A upstream_gene_variant MELA-AU 1 16648000 16648000 single base substitution A C intron_variant MELA-AU 1 16648293 16648293 single base substitution T C intron_variant MELA-AU 1 16648322 16648322 single base substitution G A intron_variant MELA-AU 1 16649979 16649979 single base substitution G A intron_variant MELA-AU 1 16650139 16650139 single base substitution G A intron_variant MELA-AU 1 16650955 16650955 single base substitution G A intron_variant MELA-AU 1 16651544 16651544 single base substitution G A intron_variant MELA-AU 1 16652547 16652547 single base substitution G C intron_variant MELA-AU 1 16652555 16652555 single base substitution C G intron_variant MELA-AU 1 16652573 16652574 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 16652614 16652614 single base substitution G A intron_variant MELA-AU 1 16652771 16652771 single base substitution G A intron_variant MELA-AU 1 16652804 16652804 single base substitution G A intron_variant MELA-AU 1 16652948 16652948 single base substitution G A intron_variant MELA-AU 1 16653230 16653230 single base substitution G A intron_variant MELA-AU 1 16653398 16653398 single base substitution G A intron_variant MELA-AU 1 16654803 16654803 single base substitution G A intron_variant MELA-AU 1 16654975 16654975 single base substitution G A intron_variant MELA-AU 1 16655309 16655310 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 16655445 16655445 single base substitution G A intron_variant MELA-AU 1 16656160 16656160 single base substitution A T intron_variant MELA-AU 1 16656205 16656205 single base substitution G A intron_variant MELA-AU 1 16657475 16657475 single base substitution G A intron_variant MELA-AU 1 16657710 16657710 single base substitution C T intron_variant MELA-AU 1 16658451 16658451 single base substitution G A intron_variant MELA-AU 1 16658550 16658550 single base substitution A T intron_variant MELA-AU 1 16659004 16659004 single base substitution C T intron_variant MELA-AU 1 16660218 16660218 single base substitution G A intron_variant MELA-AU 1 16660254 16660254 single base substitution G A intron_variant MELA-AU 1 16660689 16660689 single base substitution G A intron_variant MELA-AU 1 16660855 16660855 single base substitution G A intron_variant MELA-AU 1 16660893 16660893 single base substitution G A intron_variant MELA-AU 1 16661259 16661259 single base substitution G A intron_variant MELA-AU 1 16661380 16661380 single base substitution G A intron_variant MELA-AU 1 16661497 16661497 single base substitution G A intron_variant MELA-AU 1 16661577 16661577 single base substitution A T intron_variant MELA-AU 1 16661989 16661989 single base substitution C A intron_variant MELA-AU 1 16662256 16662257 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 16662339 16662339 single base substitution G A intron_variant MELA-AU 1 16662457 16662457 single base substitution G A intron_variant MELA-AU 1 16662824 16662824 single base substitution G A intron_variant MELA-AU 1 16663720 16663720 single base substitution G A intron_variant MELA-AU 1 16663831 16663831 single base substitution G A intron_variant MELA-AU 1 16664358 16664358 single base substitution G A intron_variant MELA-AU 1 16664531 16664531 single base substitution G A intron_variant MELA-AU 1 16665087 16665087 single base substitution G A intron_variant MELA-AU 1 16667110 16667111 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 16667849 16667849 single base substitution C A intron_variant MELA-AU 1 16668719 16668720 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 16669494 16669494 single base substitution G A intron_variant MELA-AU 1 16670109 16670109 single base substitution G A intron_variant MELA-AU 1 16670240 16670240 single base substitution C T intron_variant MELA-AU 1 16671457 16671457 single base substitution G A intron_variant MELA-AU 1 16671883 16671883 single base substitution A G intron_variant MELA-AU 1 16672236 16672237 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 16673098 16673098 single base substitution G A intron_variant MELA-AU 1 16673332 16673332 single base substitution C T intron_variant MELA-AU 1 16673385 16673385 single base substitution G A intron_variant MELA-AU 1 16673439 16673439 single base substitution C T intron_variant MELA-AU 1 16673473 16673473 single base substitution C T intron_variant MELA-AU 1 16674006 16674006 single base substitution C T intron_variant MELA-AU 1 16674613 16674622 deletion of <=200bp CAAGCTGTCA - intron_variant MELA-AU 1 16674760 16674760 single base substitution G A intron_variant MELA-AU 1 16674932 16674932 single base substitution G T intron_variant MELA-AU 1 16675126 16675126 single base substitution G A intron_variant MELA-AU 1 16677247 16677247 single base substitution A G intron_variant MELA-AU 1 16678373 16678374 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 16678801 16678801 single base substitution G A 5_prime_UTR_variant MELA-AU 1 16680114 16680114 single base substitution C T upstream_gene_variant MELA-AU 1 16680155 16680155 single base substitution C T upstream_gene_variant MELA-AU 1 16680376 16680376 single base substitution C T upstream_gene_variant MELA-AU 1 16680708 16680708 single base substitution T C upstream_gene_variant MELA-AU 1 16680745 16680745 single base substitution C T upstream_gene_variant MELA-AU 1 16681281 16681281 single base substitution C T upstream_gene_variant MELA-AU 1 16681329 16681329 single base substitution C T upstream_gene_variant MELA-AU 1 16681331 16681331 single base substitution C T upstream_gene_variant MELA-AU 1 16681739 16681739 single base substitution C T upstream_gene_variant MELA-AU 1 16681793 16681793 single base substitution C T upstream_gene_variant MELA-AU 1 16681830 16681830 single base substitution C T upstream_gene_variant MELA-AU 1 16681872 16681872 single base substitution C T upstream_gene_variant MELA-AU 1 16681880 16681880 single base substitution C T upstream_gene_variant MELA-AU 1 16682218 16682218 single base substitution C T upstream_gene_variant MELA-AU 1 16682351 16682351 single base substitution C T upstream_gene_variant MELA-AU 1 16682643 16682643 single base substitution G A upstream_gene_variant MELA-AU 1 16682697 16682697 single base substitution C T upstream_gene_variant MELA-AU 1 16682902 16682902 single base substitution C T upstream_gene_variant MELA-AU 1 16682982 16682982 single base substitution C T upstream_gene_variant MELA-AU 1 16683092 16683092 single base substitution T C upstream_gene_variant MELA-AU 1 16683593 16683594 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 16683891 16683891 single base substitution G A upstream_gene_variant ORCA-IN 1 16569559 16569559 single base substitution C A downstream_gene_variant ORCA-IN 1 16582212 16582212 single base substitution C T missense_variant R254Q 761G>A ORCA-IN 1 16582212 16582212 single base substitution C T upstream_gene_variant ORCA-IN 1 16584975 16584975 single base substitution C T intron_variant ORCA-IN 1 16584975 16584975 single base substitution C T upstream_gene_variant ORCA-IN 1 16593093 16593093 single base substitution C T intron_variant ORCA-IN 1 16593779 16593779 single base substitution C T intron_variant ORCA-IN 1 16606534 16606534 single base substitution G A intron_variant ORCA-IN 1 16638856 16638856 single base substitution C G intron_variant OV-AU 1 16568655 16568655 single base substitution C T downstream_gene_variant OV-AU 1 16580311 16580311 single base substitution C G intron_variant OV-AU 1 16580311 16580311 single base substitution C G upstream_gene_variant OV-AU 1 16590108 16590108 single base substitution C T intron_variant OV-AU 1 16590599 16590599 single base substitution C G intron_variant OV-AU 1 16596475 16596475 single base substitution C T intron_variant OV-AU 1 16596823 16596823 single base substitution C G intron_variant OV-AU 1 16597686 16597686 single base substitution A T intron_variant OV-AU 1 16598383 16598383 single base substitution C A intron_variant OV-AU 1 16604081 16604081 single base substitution G A intron_variant OV-AU 1 16606735 16606735 single base substitution T C intron_variant OV-AU 1 16609904 16609904 single base substitution C A intron_variant OV-AU 1 16619585 16619585 single base substitution T G exon_variant OV-AU 1 16619585 16619585 single base substitution T G intron_variant OV-AU 1 16629718 16629718 single base substitution T C intron_variant OV-AU 1 16630424 16630424 single base substitution T A intron_variant OV-AU 1 16630523 16630523 single base substitution C T intron_variant OV-AU 1 16633350 16633350 single base substitution T G intron_variant OV-AU 1 16645420 16645420 single base substitution C T intron_variant OV-AU 1 16645420 16645420 single base substitution C T upstream_gene_variant OV-AU 1 16650865 16650865 single base substitution C A intron_variant OV-AU 1 16652814 16652814 single base substitution G T intron_variant OV-AU 1 16654303 16654303 single base substitution T A intron_variant OV-AU 1 16659851 16659851 single base substitution T C intron_variant OV-AU 1 16665607 16665607 single base substitution C T intron_variant OV-AU 1 16665898 16665898 single base substitution C A intron_variant OV-AU 1 16667337 16667337 single base substitution G C intron_variant OV-AU 1 16672148 16672148 single base substitution T A intron_variant OV-AU 1 16672898 16672898 single base substitution A G intron_variant PACA-AU 1 16569484 16569484 single base substitution G A downstream_gene_variant PACA-AU 1 16574420 16574420 single base substitution A T 3_prime_UTR_variant PACA-AU 1 16574420 16574420 single base substitution A T downstream_gene_variant PACA-AU 1 16576939 16576939 single base substitution C A 3_prime_UTR_variant PACA-AU 1 16576939 16576939 single base substitution C A downstream_gene_variant PACA-AU 1 16579092 16579092 single base substitution A G intron_variant PACA-AU 1 16580339 16580339 single base substitution C A intron_variant PACA-AU 1 16580339 16580339 single base substitution C A upstream_gene_variant PACA-AU 1 16583321 16583321 single base substitution C T intron_variant PACA-AU 1 16583321 16583321 single base substitution C T upstream_gene_variant PACA-AU 1 16584493 16584493 single base substitution T A intron_variant PACA-AU 1 16584493 16584493 single base substitution T A upstream_gene_variant PACA-AU 1 16586458 16586458 single base substitution G A intron_variant PACA-AU 1 16590240 16590240 insertion of <=200bp - C intron_variant PACA-AU 1 16590250 16590250 insertion of <=200bp - A intron_variant PACA-AU 1 16592313 16592313 single base substitution G C intron_variant PACA-AU 1 16592598 16592598 single base substitution G C intron_variant PACA-AU 1 16592917 16592917 single base substitution T C intron_variant PACA-AU 1 16595288 16595288 single base substitution G A intron_variant PACA-AU 1 16597434 16597434 deletion of <=200bp G - intron_variant PACA-AU 1 16607970 16607970 single base substitution T G intron_variant PACA-AU 1 16607971 16607971 single base substitution T G intron_variant PACA-AU 1 16608727 16608727 single base substitution T C intron_variant PACA-AU 1 16617547 16617547 single base substitution C G downstream_gene_variant PACA-AU 1 16617547 16617547 single base substitution C G intron_variant PACA-AU 1 16620778 16620778 single base substitution G A exon_variant PACA-AU 1 16620778 16620778 single base substitution G A intron_variant PACA-AU 1 16626243 16626243 single base substitution G A intron_variant PACA-AU 1 16637274 16637277 deletion of <=200bp TTAT - intron_variant PACA-AU 1 16639820 16639823 deletion of <=200bp AAAG - intron_variant PACA-AU 1 16649243 16649244 deletion of <=200bp CA - intron_variant PACA-AU 1 16661192 16661192 single base substitution G C intron_variant PACA-AU 1 16671535 16671535 single base substitution A G intron_variant PACA-AU 1 16672176 16672176 single base substitution C G intron_variant PACA-AU 1 16673636 16673639 deletion of <=200bp TGTG - intron_variant PACA-AU 1 16676900 16676900 single base substitution G T intron_variant PACA-AU 1 16677485 16677485 single base substitution C G intron_variant PACA-AU 1 16679172 16679172 single base substitution G C upstream_gene_variant PACA-AU 1 16679457 16679457 single base substitution C A upstream_gene_variant PACA-AU 1 16681146 16681146 single base substitution C G upstream_gene_variant PACA-AU 1 16682914 16682914 single base substitution G A upstream_gene_variant PACA-CA 1 16568399 16568399 single base substitution C T downstream_gene_variant PACA-CA 1 16572084 16572084 single base substitution C T downstream_gene_variant PACA-CA 1 16572511 16572511 single base substitution T C downstream_gene_variant PACA-CA 1 16574685 16574685 single base substitution C A 3_prime_UTR_variant PACA-CA 1 16574685 16574685 single base substitution C A downstream_gene_variant PACA-CA 1 16575170 16575170 single base substitution T G 3_prime_UTR_variant PACA-CA 1 16575170 16575170 single base substitution T G downstream_gene_variant PACA-CA 1 16575630 16575633 deletion of <=200bp AAAT - 3_prime_UTR_variant PACA-CA 1 16575630 16575633 deletion of <=200bp AAAT - downstream_gene_variant PACA-CA 1 16583981 16583981 insertion of <=200bp - A intron_variant PACA-CA 1 16583981 16583981 insertion of <=200bp - A upstream_gene_variant PACA-CA 1 16586512 16586512 single base substitution G A intron_variant PACA-CA 1 16588675 16588675 single base substitution G A intron_variant PACA-CA 1 16592409 16592409 single base substitution C T intron_variant PACA-CA 1 16603302 16603302 deletion of <=200bp A - intron_variant PACA-CA 1 16603529 16603529 single base substitution T A intron_variant PACA-CA 1 16606477 16606477 single base substitution G T intron_variant PACA-CA 1 16607366 16607366 single base substitution C A intron_variant PACA-CA 1 16625378 16625378 single base substitution A G intron_variant PACA-CA 1 16627885 16627885 single base substitution C T intron_variant PACA-CA 1 16629311 16629311 single base substitution G A intron_variant PACA-CA 1 16637685 16637685 single base substitution A G intron_variant PACA-CA 1 16638581 16638581 single base substitution C T intron_variant PACA-CA 1 16644712 16644712 single base substitution G A intron_variant PACA-CA 1 16644712 16644712 single base substitution G A upstream_gene_variant PACA-CA 1 16652574 16652574 single base substitution G T intron_variant PACA-CA 1 16655367 16655367 single base substitution T C intron_variant PACA-CA 1 16656506 16656506 single base substitution A G intron_variant PACA-CA 1 16662277 16662277 single base substitution G A intron_variant PACA-CA 1 16662287 16662287 single base substitution G C intron_variant PACA-CA 1 16671594 16671594 deletion of <=200bp A - intron_variant PACA-CA 1 16678262 16678262 single base substitution A G intron_variant PACA-CA 1 16679324 16679324 single base substitution A G upstream_gene_variant PACA-CA 1 16681695 16681695 single base substitution A T upstream_gene_variant PACA-CA 1 16682120 16682120 single base substitution A G upstream_gene_variant PAEN-AU 1 16652547 16652547 single base substitution G C intron_variant PAEN-AU 1 16654930 16654930 single base substitution G A intron_variant PAEN-IT 1 16580327 16580327 single base substitution G A intron_variant PAEN-IT 1 16580327 16580327 single base substitution G A upstream_gene_variant PAEN-IT 1 16583290 16583290 single base substitution G C intron_variant PAEN-IT 1 16583290 16583290 single base substitution G C upstream_gene_variant PAEN-IT 1 16618504 16618504 single base substitution C T downstream_gene_variant PAEN-IT 1 16618504 16618504 single base substitution C T intron_variant PAEN-IT 1 16659253 16659253 single base substitution C T intron_variant PAEN-IT 1 16672955 16672955 single base substitution G A intron_variant PAEN-IT 1 16674477 16674477 single base substitution G C intron_variant PBCA-DE 1 16574160 16574161 deletion of <=200bp GG - 3_prime_UTR_variant PBCA-DE 1 16574160 16574161 deletion of <=200bp GG - downstream_gene_variant PBCA-DE 1 16577343 16577343 single base substitution C T downstream_gene_variant PBCA-DE 1 16577343 16577343 single base substitution C T missense_variant R659Q 1976G>A PBCA-DE 1 16583982 16583982 insertion of <=200bp - A intron_variant PBCA-DE 1 16583982 16583982 insertion of <=200bp - A upstream_gene_variant PBCA-DE 1 16588367 16588367 deletion of <=200bp T - intron_variant PBCA-DE 1 16589151 16589151 single base substitution C G intron_variant PBCA-DE 1 16590330 16590330 single base substitution A T intron_variant PBCA-DE 1 16591705 16591705 single base substitution C T intron_variant PBCA-DE 1 16600076 16600076 deletion of <=200bp A - intron_variant PBCA-DE 1 16613428 16613428 single base substitution G A intron_variant PBCA-DE 1 16622989 16622989 insertion of <=200bp - A intron_variant PBCA-DE 1 16663990 16663990 single base substitution A C intron_variant PBCA-DE 1 16673395 16673395 single base substitution A T intron_variant PRAD-CA 1 16572997 16572997 single base substitution T C downstream_gene_variant PRAD-CA 1 16575391 16575391 single base substitution G C 3_prime_UTR_variant PRAD-CA 1 16575391 16575391 single base substitution G C downstream_gene_variant PRAD-CA 1 16581602 16581602 single base substitution G C intron_variant PRAD-CA 1 16581602 16581602 single base substitution G C upstream_gene_variant PRAD-CA 1 16589183 16589183 single base substitution T C intron_variant PRAD-CA 1 16590205 16590205 single base substitution C T intron_variant PRAD-CA 1 16608730 16608730 single base substitution C T intron_variant PRAD-CA 1 16616437 16616437 single base substitution T C downstream_gene_variant PRAD-CA 1 16616437 16616437 single base substitution T C intron_variant PRAD-CA 1 16625867 16625867 single base substitution C G intron_variant PRAD-CA 1 16626153 16626153 single base substitution T A intron_variant PRAD-CA 1 16643177 16643177 single base substitution T C intron_variant PRAD-CA 1 16643177 16643177 single base substitution T C upstream_gene_variant PRAD-CA 1 16663055 16663055 single base substitution T C intron_variant PRAD-CA 1 16671538 16671538 single base substitution G A intron_variant PRAD-UK 1 16569190 16569190 single base substitution G A downstream_gene_variant PRAD-UK 1 16588430 16588430 single base substitution A T intron_variant PRAD-UK 1 16588779 16588779 single base substitution A C intron_variant PRAD-UK 1 16595482 16595482 single base substitution T C intron_variant PRAD-UK 1 16598139 16598139 single base substitution C T intron_variant PRAD-UK 1 16611463 16611463 single base substitution T A intron_variant PRAD-UK 1 16619709 16619709 deletion of <=200bp G - exon_variant PRAD-UK 1 16619709 16619709 deletion of <=200bp G - intron_variant PRAD-UK 1 16624524 16624524 single base substitution C T intron_variant PRAD-UK 1 16640267 16640267 single base substitution G A intron_variant PRAD-US 1 16577179 16577179 single base substitution G A downstream_gene_variant PRAD-US 1 16577179 16577179 single base substitution G A stop_gained R714* 2140C>T PRAD-US 1 16577790 16577790 single base substitution G A missense_variant S228F 683C>T PRAD-US 1 16577790 16577790 single base substitution G A missense_variant S510F 1529C>T READ-US 1 16577466 16577466 single base substitution G T downstream_gene_variant READ-US 1 16577466 16577466 single base substitution G T missense_variant A618D 1853C>A RECA-EU 1 16580460 16580460 single base substitution T A intron_variant RECA-EU 1 16580460 16580460 single base substitution T A upstream_gene_variant RECA-EU 1 16586347 16586347 single base substitution G A intron_variant RECA-EU 1 16587449 16587449 single base substitution T C intron_variant RECA-EU 1 16620324 16620324 single base substitution T G exon_variant RECA-EU 1 16620324 16620324 single base substitution T G intron_variant RECA-EU 1 16633009 16633009 single base substitution A T intron_variant RECA-EU 1 16633780 16633780 single base substitution A C intron_variant RECA-EU 1 16636330 16636330 single base substitution G T intron_variant RECA-EU 1 16638974 16638974 single base substitution G T intron_variant RECA-EU 1 16643930 16643930 single base substitution A C intron_variant RECA-EU 1 16643930 16643930 single base substitution A C upstream_gene_variant RECA-EU 1 16644075 16644075 single base substitution G A intron_variant RECA-EU 1 16644075 16644075 single base substitution G A upstream_gene_variant RECA-EU 1 16644317 16644317 single base substitution A C intron_variant RECA-EU 1 16644317 16644317 single base substitution A C upstream_gene_variant RECA-EU 1 16647845 16647845 single base substitution T G intron_variant RECA-EU 1 16648006 16648006 single base substitution C A intron_variant RECA-EU 1 16654744 16654744 single base substitution T C intron_variant RECA-EU 1 16673421 16673421 single base substitution G T intron_variant RECA-EU 1 16674192 16674192 single base substitution A G intron_variant RECA-EU 1 16675028 16675028 single base substitution C T intron_variant RECA-EU 1 16677248 16677248 single base substitution A G intron_variant SKCA-BR 1 16569503 16569503 single base substitution G A downstream_gene_variant SKCA-BR 1 16571536 16571536 single base substitution G A downstream_gene_variant SKCA-BR 1 16576082 16576082 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 16576082 16576082 single base substitution G A downstream_gene_variant SKCA-BR 1 16577908 16577908 single base substitution G C missense_variant P189A 565C>G SKCA-BR 1 16577908 16577908 single base substitution G C missense_variant P471A 1411C>G SKCA-BR 1 16580477 16580477 single base substitution G A intron_variant SKCA-BR 1 16580477 16580477 single base substitution G A upstream_gene_variant SKCA-BR 1 16581223 16581223 single base substitution G A intron_variant SKCA-BR 1 16581223 16581223 single base substitution G A upstream_gene_variant SKCA-BR 1 16581224 16581224 single base substitution G A intron_variant SKCA-BR 1 16581224 16581224 single base substitution G A upstream_gene_variant SKCA-BR 1 16581861 16581861 single base substitution G A intron_variant SKCA-BR 1 16581861 16581861 single base substitution G A upstream_gene_variant SKCA-BR 1 16581955 16581955 single base substitution A G intron_variant SKCA-BR 1 16581955 16581955 single base substitution A G upstream_gene_variant SKCA-BR 1 16584494 16584494 single base substitution A T intron_variant SKCA-BR 1 16584494 16584494 single base substitution A T upstream_gene_variant SKCA-BR 1 16586286 16586286 single base substitution A G intron_variant SKCA-BR 1 16588199 16588200 deletion of <=200bp AT - intron_variant SKCA-BR 1 16588450 16588450 single base substitution A C intron_variant SKCA-BR 1 16592275 16592276 deletion of <=200bp TA - intron_variant SKCA-BR 1 16593753 16593753 single base substitution T C intron_variant SKCA-BR 1 16593928 16593928 single base substitution G A intron_variant SKCA-BR 1 16595574 16595574 single base substitution G A intron_variant SKCA-BR 1 16595740 16595740 single base substitution A C intron_variant SKCA-BR 1 16595871 16595871 single base substitution A C intron_variant SKCA-BR 1 16596346 16596351 deletion of <=200bp CTGTTT - intron_variant SKCA-BR 1 16597246 16597246 insertion of <=200bp - TACAC intron_variant SKCA-BR 1 16599490 16599490 single base substitution A T intron_variant SKCA-BR 1 16602181 16602181 single base substitution G A intron_variant SKCA-BR 1 16602789 16602789 single base substitution G A intron_variant SKCA-BR 1 16602897 16602897 single base substitution G A intron_variant SKCA-BR 1 16606349 16606349 insertion of <=200bp - CTTTTCTTTTT intron_variant SKCA-BR 1 16606354 16606354 single base substitution T C intron_variant SKCA-BR 1 16607034 16607034 single base substitution T C intron_variant SKCA-BR 1 16608715 16608715 insertion of <=200bp - CT intron_variant SKCA-BR 1 16609492 16609492 single base substitution T A intron_variant SKCA-BR 1 16609988 16609988 insertion of <=200bp - AGTTTTTTTTTTTT intron_variant SKCA-BR 1 16609990 16609990 insertion of <=200bp - TTTTTTTTTTTTG intron_variant SKCA-BR 1 16609999 16609999 insertion of <=200bp - TTTG intron_variant SKCA-BR 1 16610001 16610001 insertion of <=200bp - TG intron_variant SKCA-BR 1 16610522 16610522 single base substitution G A intron_variant SKCA-BR 1 16610940 16610940 single base substitution T C intron_variant SKCA-BR 1 16615903 16615903 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 1 16615903 16615903 insertion of <=200bp - TA intron_variant SKCA-BR 1 16619330 16619330 single base substitution A G exon_variant SKCA-BR 1 16619330 16619330 single base substitution A G intron_variant SKCA-BR 1 16626256 16626256 single base substitution C A intron_variant SKCA-BR 1 16626549 16626549 single base substitution A T intron_variant SKCA-BR 1 16628179 16628179 single base substitution C A intron_variant SKCA-BR 1 16628182 16628182 insertion of <=200bp - CA intron_variant SKCA-BR 1 16628198 16628198 single base substitution G A intron_variant SKCA-BR 1 16629166 16629166 single base substitution G A intron_variant SKCA-BR 1 16634018 16634018 insertion of <=200bp - CA intron_variant SKCA-BR 1 16637991 16638002 deletion of <=200bp AAAAAAAAATAT - intron_variant SKCA-BR 1 16639819 16639823 deletion of <=200bp CAAAG - intron_variant SKCA-BR 1 16640249 16640249 single base substitution G C intron_variant SKCA-BR 1 16643429 16643429 single base substitution G A intron_variant SKCA-BR 1 16643429 16643429 single base substitution G A upstream_gene_variant SKCA-BR 1 16647156 16647156 insertion of <=200bp - AT intron_variant SKCA-BR 1 16648892 16648892 single base substitution G A intron_variant SKCA-BR 1 16650698 16650698 single base substitution C A intron_variant SKCA-BR 1 16652509 16652509 insertion of <=200bp - TTGTGTGTGTGTGTGTGTGTGTG intron_variant SKCA-BR 1 16652545 16652545 single base substitution C G intron_variant SKCA-BR 1 16654331 16654331 single base substitution G A intron_variant SKCA-BR 1 16654332 16654332 single base substitution G A intron_variant SKCA-BR 1 16656846 16656846 single base substitution G A intron_variant SKCA-BR 1 16657832 16657832 single base substitution C G intron_variant SKCA-BR 1 16662905 16662905 single base substitution G A intron_variant SKCA-BR 1 16664202 16664202 single base substitution A C intron_variant SKCA-BR 1 16665495 16665495 single base substitution G A intron_variant SKCA-BR 1 16665496 16665496 single base substitution G A intron_variant SKCA-BR 1 16667541 16667541 single base substitution G C intron_variant SKCA-BR 1 16668040 16668040 single base substitution T C intron_variant SKCA-BR 1 16668052 16668052 single base substitution A G intron_variant SKCA-BR 1 16668060 16668060 single base substitution A C intron_variant SKCA-BR 1 16668104 16668115 deletion of <=200bp TAAAAAAAAAAA - intron_variant SKCA-BR 1 16668891 16668892 deletion of <=200bp CA - intron_variant SKCA-BR 1 16670319 16670319 single base substitution A C intron_variant SKCA-BR 1 16670818 16670820 deletion of <=200bp ATT - intron_variant SKCA-BR 1 16670981 16670982 deletion of <=200bp CT - intron_variant SKCA-BR 1 16671780 16671780 single base substitution T A intron_variant SKCA-BR 1 16673248 16673248 insertion of <=200bp - AT intron_variant SKCA-BR 1 16674487 16674488 deletion of <=200bp CA - intron_variant SKCA-BR 1 16674497 16674505 deletion of <=200bp AAAAAAAAG - intron_variant SKCA-BR 1 16674505 16674505 single base substitution G A intron_variant SKCA-BR 1 16675636 16675636 single base substitution C T intron_variant SKCA-BR 1 16677243 16677243 insertion of <=200bp - AAG intron_variant SKCA-BR 1 16677251 16677256 deletion of <=200bp AAAAAG - intron_variant SKCA-BR 1 16681039 16681039 single base substitution T C upstream_gene_variant SKCA-BR 1 16683291 16683291 single base substitution G A upstream_gene_variant SKCM-US 1 16577258 16577258 single base substitution T C downstream_gene_variant SKCM-US 1 16577258 16577258 single base substitution T C synonymous_variant E687E 2061A>G SKCM-US 1 16577301 16577301 single base substitution G A downstream_gene_variant SKCM-US 1 16577301 16577301 single base substitution G A missense_variant P673L 2018C>T SKCM-US 1 16577468 16577468 single base substitution A G downstream_gene_variant SKCM-US 1 16577468 16577468 single base substitution A G synonymous_variant I617I 1851T>C SKCM-US 1 16577532 16577532 single base substitution C T downstream_gene_variant SKCM-US 1 16577532 16577532 single base substitution C T missense_variant G596E 1787G>A SKCM-US 1 16577615 16577615 single base substitution G A synonymous_variant S286S 858C>T SKCM-US 1 16577615 16577615 single base substitution G A synonymous_variant S568S 1704C>T SKCM-US 1 16577664 16577664 single base substitution G A missense_variant S270F 809C>T SKCM-US 1 16577664 16577664 single base substitution G A missense_variant S552F 1655C>T SKCM-US 1 16577797 16577797 single base substitution G A missense_variant P226S 676C>T SKCM-US 1 16577797 16577797 single base substitution G A missense_variant P508S 1522C>T SKCM-US 1 16577850 16577850 single base substitution G A missense_variant P208L 623C>T SKCM-US 1 16577850 16577850 single base substitution G A missense_variant P490L 1469C>T SKCM-US 1 16577944 16577944 single base substitution G A missense_variant P177S 529C>T SKCM-US 1 16577944 16577944 single base substitution G A missense_variant P459S 1375C>T SKCM-US 1 16583245 16583245 single base substitution G A missense_variant P171L 512C>T SKCM-US 1 16583245 16583245 single base substitution G A upstream_gene_variant SKCM-US 1 16583246 16583246 single base substitution G A missense_variant P171S 511C>T SKCM-US 1 16583246 16583246 single base substitution G A upstream_gene_variant SKCM-US 1 16632330 16632330 single base substitution G A exon_variant SKCM-US 1 16632330 16632330 single base substitution G A missense_variant P112L 335C>T STAD-US 1 16577504 16577504 single base substitution C T downstream_gene_variant STAD-US 1 16577504 16577504 single base substitution C T synonymous_variant G605G 1815G>A STAD-US 1 16583174 16583174 single base substitution G A missense_variant P195S 583C>T STAD-US 1 16583174 16583174 single base substitution G A upstream_gene_variant STAD-US 1 16632304 16632304 single base substitution A G exon_variant STAD-US 1 16632304 16632304 single base substitution A G missense_variant S121P 361T>C THCA-US 1 16577866 16577866 single base substitution G C missense_variant R203G 607C>G THCA-US 1 16577866 16577866 single base substitution G C missense_variant R485G 1453C>G UCEC-US 1 16577348 16577348 single base substitution C T downstream_gene_variant UCEC-US 1 16577348 16577348 single base substitution C T synonymous_variant K657K 1971G>A UCEC-US 1 16577461 16577461 single base substitution G A downstream_gene_variant UCEC-US 1 16577461 16577461 single base substitution G A missense_variant R620C 1858C>T UCEC-US 1 16577762 16577762 single base substitution G A synonymous_variant D237D 711C>T UCEC-US 1 16577762 16577762 single base substitution G A synonymous_variant D519D 1557C>T UCEC-US 1 16578103 16578103 single base substitution C T missense_variant G124S 370G>A UCEC-US 1 16578103 16578103 single base substitution C T missense_variant G406S 1216G>A UCEC-US 1 16641780 16641780 single base substitution C A exon_variant UCEC-US 1 16641780 16641780 single base substitution C A missense_variant R45M 134G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-HC-8256-01 COSM2089104 c.2140C>T p.R714* Substitution - Nonsense 1:16250684-16250684 - 2492720 COSM5719212 c.1288C>T p.P430S Substitution - Missense 1:16251536-16251536 - TCGA-CF-A1HR-01 COSM414358 c.11C>T p.S4F Substitution - Missense 1:16315408-16315408 - HCT8 COSM1667180 c.2120C>T p.T707I Substitution - Missense 1:16250704-16250704 - 9T COSM106391 c.1357G>T p.G453C Substitution - Missense 1:16251467-16251467 - TCGA-D8-A27H-01 COSM1472923 c.1351G>C p.V451L Substitution - Missense 1:16251473-16251473 - 266 COSM97876 c.500C>G p.S167* Substitution - Nonsense 1:16294785-16294785 - Pat_60_B COSM5844371 c.568G>T p.G190C Substitution - Missense 1:16256694-16256694 - TCGA-B5-A0K2-01 COSM898957 c.1216G>A p.G406S Substitution - Missense 1:16251608-16251608 - TCGA-CC-5264-01 COSM4915233 c.2030G>T p.S677I Substitution - Missense 1:16250794-16250794 - CHC1754T COSM4792675 c.1004G>T p.G335V Substitution - Missense 1:16252322-16252322 - TCGA-BF-A1Q0-01 COSM3477655 c.2061A>G p.E687E Substitution - coding silent 1:16250763-16250763 - PDA_065 COSM5001399 c.2010_2011insTG p.V671fs*32 Insertion - Frameshift 1:16250813-16250814 - ESCC_158 COSM5646516 c.143C>T p.S48L Substitution - Missense 1:16315276-16315276 - C10 COSM4616429 c.253G>A p.V85I Substitution - Missense 1:16305917-16305917 - LUAD_E00522 COSM352851 c.154G>C p.E52Q Substitution - Missense 1:16315265-16315265 - T36 COSM4684008 c.1574delG p.G525fs*3 Deletion - Frameshift 1:16251250-16251250 - T207 COSM4684006 c.1975C>T p.R659W Substitution - Missense 1:16250849-16250849 - HCT15 COSM1667180 c.2120C>T p.T707I Substitution - Missense 1:16250704-16250704 - RMS10_ COSM4985771 c.1972G>A p.G658R Substitution - Missense 1:16250852-16250852 - TCGA-24-0979-01 COSM116497 c.1693G>T p.A565S Substitution - Missense 1:16251131-16251131 - LUAD-QCHM7 COSM377092 c.956C>T p.S319F Substitution - Missense 1:16252370-16252370 - TCGA-CK-4952-01 COSM1335944 c.1082G>A p.R361K Substitution - Missense 1:16251742-16251742 - RK004_C01 COSM1626597 c.1896C>T p.G632G Substitution - coding silent 1:16250928-16250928 - OSCC-GB_00410111 COSM3710393 c.761G>A p.R254Q Substitution - Missense 1:16255717-16255717 - PT19_1 COSM5899351 c.656+7C>A p.? Unknown 1:16256599-16256599 - pfg016T COSM1639606 c.2040C>T p.T680T Substitution - coding silent 1:16250784-16250784 - TCGA-E2-A3DX-01 COSM3802700 c.72G>A p.G24G Substitution - coding silent 1:16315347-16315347 - TCGA-DK-A1A5-01 COSM414360 c.2097G>C p.Q699H Substitution - Missense 1:16250727-16250727 - TCGA-EE-A2GI-06 COSM3477667 c.335C>T p.P112L Substitution - Missense 1:16305835-16305835 - HCT-15 COSM1667180 c.2120C>T p.T707I Substitution - Missense 1:16250704-16250704 - 41T COSM3710393 c.761G>A p.R254Q Substitution - Missense 1:16255717-16255717 - TCGA-EE-A2MR-06 COSM2089109 c.1851T>C p.I617I Substitution - coding silent 1:16250973-16250973 - TCGA-EE-A2GJ-06 COSM3477667 c.335C>T p.P112L Substitution - Missense 1:16305835-16305835 - TCGA-CG-5721-01 COSM4024748 c.1815G>A p.G605G Substitution - coding silent 1:16251009-16251009 - SNU-175 COSM2089188 c.318C>T p.S106S Substitution - coding silent 1:16305852-16305852 - TCGA-CJ-6031-01 COSM463335 c.611A>C p.E204A Substitution - Missense 1:16256651-16256651 - TCGA-B5-A11E-01 COSM898967 c.134G>T p.R45M Substitution - Missense 1:16315285-16315285 - RK021_C01 COSM1626598 c.1538A>C p.N513T Substitution - Missense 1:16251286-16251286 - BCM257T COSM4951580 c.1017G>A p.L339L Substitution - coding silent 1:16252309-16252309 - CSCC-41-T COSM4471727 c.1738C>T p.P580S Substitution - Missense 1:16251086-16251086 - CHC1754T COSM4792675 c.1004G>T p.G335V Substitution - Missense 1:16252322-16252322 - HN_62739 COSM123125 c.43G>C p.V15L Substitution - Missense 1:16315376-16315376 - pfg008T COSM1639607 c.1615A>G p.T539A Substitution - Missense 1:16251209-16251209 - 587278 COSM1206843 c.1259C>A p.P420H Substitution - Missense 1:16251565-16251565 - BCM257T COSM4951580 c.1017G>A p.L339L Substitution - coding silent 1:16252309-16252309 - TCGA-AP-A051-01 COSM898954 c.1971G>A p.K657K Substitution - coding silent 1:16250853-16250853 - TCGA-F5-6814-01 COSM3418267 c.1853C>A p.A618D Substitution - Missense 1:16250971-16250971 - 2492724 COSM5725231 c.1712C>T p.P571L Substitution - Missense 1:16251112-16251112 - TCGA-FS-A4F9-06 COSM3477663 c.511C>T p.P171S Substitution - Missense 1:16256751-16256751 - TCGA-DR-A0ZM-01 COSM458443 c.2020C>A p.P674T Substitution - Missense 1:16250804-16250804 - YUKLAB COSM1687069 c.1529C>T p.S510F Substitution - Missense 1:16251295-16251295 - 10821 COSM3728067 c.26A>T p.D9V Substitution - Missense 1:16315393-16315393 - I2L-P19Tb-Tumor-Organoid COSM5352505 c.210_211delTG p.A71fs*57 Deletion - Frameshift 1:16315208-16315209 - TCGA-FS-A1ZK-06 COSM3477657 c.1787G>A p.G596E Substitution - Missense 1:16251037-16251037 - TCGA-D3-A1QA-06 COSM3477662 c.512C>T p.P171L Substitution - Missense 1:16256750-16256750 - CHC205T COSM3747581 c.1411C>G p.P471A Substitution - Missense 1:16251413-16251413 - TCGA-CJ-5675-01 COSM463334 c.2133C>G p.Y711* Substitution - Nonsense 1:16250691-16250691 - T36 COSM4684007 c.1627G>A p.V543M Substitution - Missense 1:16251197-16251197 - 2492703 COSM5599543 c.819G>A p.P273P Substitution - coding silent 1:16253680-16253680 - TCGA-DM-A28H-01 COSM1335945 c.803_804insCAGTG p.W268fs*26 Insertion - Frameshift 1:16253695-16253696 - TCGA-EE-A2MR-06 COSM3477656 c.2018C>T p.P673L Substitution - Missense 1:16250806-16250806 - TCGA-EE-A2GE-06 COSM3477660 c.1522C>T p.P508S Substitution - Missense 1:16251302-16251302 - cSCCP2 COSM137304 c.1150C>T p.P384S Substitution - Missense 1:16251674-16251674 - TCGA-A8-A09Z-01 COSM3802696 c.1456C>T p.R486* Substitution - Nonsense 1:16251368-16251368 - TCGA-CF-A3MG-01 COSM1295416 c.55G>C p.E19Q Substitution - Missense 1:16315364-16315364 - TCGA-B6-A0IK-01 COSM3802697 c.865-3C>T p.? Unknown 1:16253155-16253155 - TCGA-Q1-A5R2-01 COSM4850633 c.1354G>C p.G452R Substitution - Missense 1:16251470-16251470 - TCGA-AP-A059-01 COSM898956 c.1557C>T p.D519D Substitution - coding silent 1:16251267-16251267 - TCGA-21-5782-01 COSM676487 c.1689C>G p.I563M Substitution - Missense 1:16251135-16251135 - TCGA-AG-A002-01 COSM260902 c.2150G>T p.R717I Substitution - Missense 1:16250674-16250674 - 587342 COSM1206844 c.221T>A p.V74D Substitution - Missense 1:16315198-16315198 - CHC1209T COSM4804721 c.622G>A p.D208N Substitution - Missense 1:16256640-16256640 - TCGA-BR-A4QL-01 COSM4024749 c.583C>T p.P195S Substitution - Missense 1:16256679-16256679 - C80 COSM4619664 c.346A>G p.I116V Substitution - Missense 1:16305824-16305824 - BD110T COSM5514463 c.1694C>T p.A565V Substitution - Missense 1:16251130-16251130 - TCGA-EE-A3JD-06 COSM4395700 c.1469C>T p.P490L Substitution - Missense 1:16251355-16251355 - T3090 COSM4684009 c.235T>C p.Y79H Substitution - Missense 1:16315184-16315184 - CHC1209T COSM4804721 c.622G>A p.D208N Substitution - Missense 1:16256640-16256640 - TCGA-B5-A0JY-01 COSM898955 c.1858C>T p.R620C Substitution - Missense 1:16250966-16250966 - 2492721 COSM5719212 c.1288C>T p.P430S Substitution - Missense 1:16251536-16251536 - 2492723 COSM5719212 c.1288C>T p.P430S Substitution - Missense 1:16251536-16251536 - CHC432T COSM4953983 c.61G>T p.V21L Substitution - Missense 1:16315358-16315358 - I2L-P7-Tumor-Organoid COSM5353669 c.562C>T p.L188L Substitution - coding silent 1:16256700-16256700 - TCGA-DK-A1A5-01 COSM414359 c.1922G>A p.C641Y Substitution - Missense 1:16250902-16250902 - TCGA-J4-A67R-01 COSM1687069 c.1529C>T p.S510F Substitution - Missense 1:16251295-16251295 - ESO-916 COSM1252273 c.1152T>C p.P384P Substitution - coding silent 1:16251672-16251672 - TCGA-ER-A19C-06 COSM3477661 c.1375C>T p.P459S Substitution - Missense 1:16251449-16251449 - LS411 COSM2089127 c.865A>G p.I289V Substitution - Missense 1:16253152-16253152 - LUAD-CHTN-MAD06-00668 COSM358077 c.63G>C p.V21V Substitution - coding silent 1:16315356-16315356 - Pat_45_A COSM5844370 c.1364C>T p.S455F Substitution - Missense 1:16251460-16251460 - TCGA-EK-A3GK-01 COSM676487 c.1689C>G p.I563M Substitution - Missense 1:16251135-16251135 - I2L-P19Tb-Tumor-Biopsy COSM5352505 c.210_211delTG p.A71fs*57 Deletion - Frameshift 1:16315208-16315209 - 2492702 COSM5599543 c.819G>A p.P273P Substitution - coding silent 1:16253680-16253680 - TCGA-D9-A1JW-06 COSM3477658 c.1704C>T p.S568S Substitution - coding silent 1:16251120-16251120 - 40M COSM5585197 c.540C>T p.V180V Substitution - coding silent 1:16256722-16256722 - WA43-44 COSM239848 c.262C>A p.Q88K Substitution - Missense 1:16305908-16305908 - Au2 COSM5599543 c.819G>A p.P273P Substitution - coding silent 1:16253680-16253680 - TCGA-D1-A17H-01 COSM898958 c.581G>A p.R194Q Substitution - Missense 1:16256681-16256681 - RH30SJ_ COSM2089108 c.1858C>A p.R620S Substitution - Missense 1:16250966-16250966 - CSCC-4-T COSM4556213 c.682G>A p.G228R Substitution - Missense 1:16255796-16255796 - TCGA-GC-A3YS-01 COSM3789030 c.894C>T p.I298I Substitution - coding silent 1:16253123-16253123 - PD6730b COSM5791707 c.1594G>A p.E532K Substitution - Missense 1:16251230-16251230 - DLD1 COSM1667180 c.2120C>T p.T707I Substitution - Missense 1:16250704-16250704 - N604T COSM236425 c.1923C>A p.C641* Substitution - Nonsense 1:16250901-16250901 - LP6007594 COSM4410099 c.1036C>T p.R346W Substitution - Missense 1:16252290-16252290 - STC252 COSM5052775 c.2124C>T p.N708N Substitution - coding silent 1:16250700-16250700 - 2492700 COSM5599543 c.819G>A p.P273P Substitution - coding silent 1:16253680-16253680 - TCGA-34-2596-01 COSM676486 c.1518G>C p.L506L Substitution - coding silent 1:16251306-16251306 - YURIDA COSM1687070 c.994G>A p.E332K Substitution - Missense 1:16252332-16252332 - SW48 COSM2089107 c.1925A>T p.K642M Substitution - Missense 1:16250899-16250899 - TCGA-E8-A2EA-01 COSM3369391 c.1453C>G p.R485G Substitution - Missense 1:16251371-16251371 - TCGA-DK-A3X1-01 COSM3789032 c.14C>T p.S5L Substitution - Missense 1:16315405-16315405 - YUKAT COSM5378286 c.1373G>A p.S458N Substitution - Missense 1:16251451-16251451 - 8012352 COSM1168649 c.1614_1623del10 p.P540fs*35 Deletion - Frameshift 1:16251201-16251210 - 2492701 COSM5599543 c.819G>A p.P273P Substitution - coding silent 1:16253680-16253680 - HCC078T COSM5806235 c.2137G>T p.V713L Substitution - Missense 1:16250687-16250687 - HCC054T COSM5809709 c.561G>A p.V187V Substitution - coding silent 1:16256701-16256701 - 261T COSM1726999 c.1522C>G p.P508A Substitution - Missense 1:16251302-16251302 - CHC432T COSM4953983 c.61G>T p.V21L Substitution - Missense 1:16315358-16315358 - NCI-H716 COSM2089121 c.1142C>T p.A381V Substitution - Missense 1:16251682-16251682 - TCGA-18-3409-01 COSM676488 c.1839C>T p.S613S Substitution - coding silent 1:16250985-16250985 - CN-AML-CR-30-Dx COSM5427407 c.15G>A p.S5S Substitution - coding silent 1:16315404-16315404 - 2492726 COSM5725231 c.1712C>T p.P571L Substitution - Missense 1:16251112-16251112 - LC_S3 COSM1185340 c.256G>T p.A86S Substitution - Missense 1:16305914-16305914 - PT48 COSM5930530 c.1238C>T p.P413L Substitution - Missense 1:16251586-16251586 - TCGA-BR-8680-01 COSM4024754 c.361T>C p.S121P Substitution - Missense 1:16305809-16305809 - TCGA-AA-A00N-01 COSM275145 c.691C>T p.P231S Substitution - Missense 1:16255787-16255787 - 2492722 COSM5719212 c.1288C>T p.P430S Substitution - Missense 1:16251536-16251536 - 169 COSM3728529 c.1422C>T p.Y474Y Substitution - coding silent 1:16251402-16251402 - TCGA-D3-A2JN-06 COSM3477659 c.1655C>T p.S552F Substitution - Missense 1:16251169-16251169 - 40M COSM5585196 c.1441T>G p.S481A Substitution - Missense 1:16251383-16251383 - LUAD-D02185 COSM338646 c.1713C>T p.P571P Substitution - coding silent 1:16251111-16251111 - pfg008T COSM1639607 c.1615A>G p.T539A Substitution - Missense 1:16251209-16251209 - CHC1439T COSM3667030 c.1948G>T p.D650Y Substitution - Missense 1:16250876-16250876 - PTC-70C COSM4142975 c.1371C>T p.D457D Substitution - coding silent 1:16251453-16251453 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.522384 1p36.23-p36.11 609109

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - AAAAACAAAACAAAACAAAACAAAACAAAA IntronicInsertion . c.503-6996_503-6995insTGTTTTGTTTTGTTTTGTTTTGTTTTTTTT 1 16590252 CLL A G Synonymous p.P384P c.1152T>C 1 16578167 ESCA - CAAAAAAAAA IntronicInsertion . c.503-7013_503-7012insTTTTTTTTGT 1 16590267 CLL C A Missense p.A565S c.1693G>T 1 16577626 OV C G 3-UTRSNV . c.2151+82G>C 1 16577086 MM C G IntronicSNV . c.502+1271G>C 1 16620007 HC C G Missense p.E19Q c.55G>C 1 16641859 BLCA C G Missense p.E37Q c.109G>C 1 16641805 HNSC C G Missense p.Q699H c.2097G>C 1 16577222 BLCA C G Missense p.V15L c.43G>C 1 16641871 HNSC C G Missense p.V451L c.1351G>C 1 16577968 BRCA C G Synonymous p.L506L c.1518G>C 1 16577801 LUSC C T Missense p.C641Y c.1922G>A 1 16577397 BLCA C T Missense p.G406S c.1216G>A 1 16578103 UCEC C T Missense p.G596E c.1787G>A 1 16577532 CM C T Synonymous p.E204E c.612G>A 1 16583145 BRCA G A Missense p.H538Y c.1612C>T 1 16577707 COREAD G A Missense p.L547F c.1639C>T 1 16577680 CM G A Missense p.P112L c.335C>T 1 16632330 CM G A Missense p.P171L c.512C>T 1 16583245 CM G A Missense p.P459S c.1375C>T 1 16577944 CM G A Missense p.P490L c.1469C>T 1 16577850 CM G A Missense p.P508S c.1522C>T 1 16577797 CM G A Missense p.P616S c.1846C>T 1 16577473 CM G A Missense p.P705L c.2114C>T 1 16577205 CM G A Missense p.S4F c.11C>T 1 16641903 BLCA G A Missense p.S510F c.1529C>T 1 16577790 PRAD G A Missense p.S552F c.1655C>T 1 16577664 CM G A Missense p.S613F c.1838C>T 1 16577481 CM G A Nonsense p.R714* c.2140C>T 1 16577179 PRAD G A Synonymous p.G632G c.1896C>T 1 16577423 HC G A Synonymous p.S568S c.1704C>T 1 16577615 CM G A Synonymous p.T680T c.2040C>T 1 16577279 STAD G C Missense p.I563M c.1689C>G 1 16577630 LUSC G C Missense p.P115R c.344C>G 1 16632321 LUAD G C Missense p.P199A c.595C>G 1 16583162 CM G C Missense p.R485G c.1453C>G 1 16577866 THCA G C Nonsense p.Y711* c.2133C>G 1 16577186 RCCC G T Missense p.P164H c.491C>A 1 16621289 CM G T Missense p.S287Y c.860C>A 1 16580134 HNSC G T Missense p.S552Y c.1655C>A 1 16577664 STAD T C IntronicSNV . c.502+1621A>G 1 16619657 HC T C Missense p.T539A c.1615A>G 1 16577704 STAD T C Synonymous p.E687E c.2061A>G 1 16577258 CM T G Missense p.E204A c.611A>C 1 16583146 RCCC T G Missense p.N513T c.1538A>C 1 16577781 HC