Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 2 128066254 128066254 + Nonsense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr2:128066254G>C c.1541C>G c.(1540-1542)tCa>tGa p.S514* BLCA 2 128066317 128066317 + Nonsense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 g.chr2:128066317G>C c.1478C>G c.(1477-1479)tCa>tGa p.S493* BLCA 2 128075798 128075798 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 g.chr2:128075798C>G c.1141G>C c.(1141-1143)Gaa>Caa p.E381Q BLCA 2 128075805 128075805 + Silent SNP T T A TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr2:128075805T>A c.1134A>T c.(1132-1134)acA>acT p.T378T BLCA 2 128079675 128079675 + Missense_Mutation SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 g.chr2:128079675C>T c.992G>A c.(991-993)aGt>aAt p.S331N BLCA 2 128079770 128079770 + Silent SNP C C G TCGA-ZF-AA5H-01A-11D-A391-08 TCGA-ZF-AA5H-10A-01D-A394-08 g.chr2:128079770C>G c.897G>C c.(895-897)gtG>gtC p.V299V BLCA 2 128087555 128087555 + Silent SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 g.chr2:128087555T>C c.408A>G c.(406-408)ctA>ctG p.L136L BLCA 2 128088035 128088035 + Missense_Mutation SNP T T C TCGA-FD-A5BV-01A-11D-A26M-08 TCGA-FD-A5BV-10A-01D-A26K-08 g.chr2:128088035T>C c.311A>G c.(310-312)gAa>gGa p.E104G BLCA 2 128093472 128093472 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr2:128093472T>C c.238A>G c.(238-240)Atg>Gtg p.M80V BRCA 2 128066245 128066245 + Missense_Mutation SNP C C A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:128066245C>A c.1550G>T c.(1549-1551)gGa>gTa p.G517V BRCA 2 128075243 128075243 + Frame_Shift_Del DEL C C - TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:128075243delC c.1288delG c.(1288-1290)gaafs p.E430fs BRCA 2 128075321 128075321 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chr2:128075321C>T c.1210G>A c.(1210-1212)Gag>Aag p.E404K BRCA 2 128084359 128084359 + Silent SNP T T A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 g.chr2:128084359T>A c.501A>T c.(499-501)ccA>ccT p.P167P CESC 2 128088060 128088060 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr2:128088060G>A c.286C>T c.(286-288)Caa>Taa p.Q96* CHOL 2 128087578 128087578 + Missense_Mutation SNP T T G TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr2:128087578T>G c.385A>C c.(385-387)Aat>Cat p.N129H COAD 2 128072395 128072395 + Missense_Mutation SNP G G A TCGA-D5-6926-01A-11D-1924-10 TCGA-D5-6926-10A-01D-1924-10 g.chr2:128072395G>A c.1391C>T c.(1390-1392)aCc>aTc p.T464I COAD 2 128075798 128075798 + Nonsense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:128075798C>A c.1141G>T c.(1141-1143)Gaa>Taa p.E381* COAD 2 128079649 128079649 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr2:128079649C>T c.1018G>A c.(1018-1020)Gta>Ata p.V340I COAD 2 128081755 128081755 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:128081755A>C c.740T>G c.(739-741)tTt>tGt p.F247C COAD 2 128081791 128081791 + Missense_Mutation SNP G G T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:128081791G>T c.704C>A c.(703-705)cCt>cAt p.P235H COAD 2 128083319 128083319 + Missense_Mutation SNP T T C TCGA-D5-5538-01A-01D-1650-10 TCGA-D5-5538-10A-02D-1650-10 g.chr2:128083319T>C c.662A>G c.(661-663)gAt>gGt p.D221G COAD 2 128088048 128088048 + Missense_Mutation SNP C C A TCGA-D5-6537-01A-11D-1719-10 TCGA-D5-6537-10A-01D-1719-10 g.chr2:128088048C>A c.298G>T c.(298-300)Gac>Tac p.D100Y COAD 2 128093491 128093491 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:128093491T>G c.219A>C c.(217-219)aaA>aaC p.K73N COADREAD 2 128072395 128072395 + Missense_Mutation SNP G G A TCGA-D5-6926-01A-11D-1924-10 TCGA-D5-6926-10A-01D-1924-10 g.chr2:128072395G>A c.1391C>T c.(1390-1392)aCc>aTc p.T464I COADREAD 2 128072395 128072395 + Missense_Mutation SNP G G A TCGA-DC-6683-01A-11D-1826-10 TCGA-DC-6683-10A-01D-1826-10 g.chr2:128072395G>A c.1391C>T c.(1390-1392)aCc>aTc p.T464I COADREAD 2 128075798 128075798 + Nonsense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:128075798C>A c.1141G>T c.(1141-1143)Gaa>Taa p.E381* COADREAD 2 128079649 128079649 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr2:128079649C>T c.1018G>A c.(1018-1020)Gta>Ata p.V340I COADREAD 2 128081548 128081548 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:128081548C>A c.768G>T c.(766-768)gaG>gaT p.E256D COADREAD 2 128081755 128081755 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:128081755A>C c.740T>G c.(739-741)tTt>tGt p.F247C COADREAD 2 128081791 128081791 + Missense_Mutation SNP G G T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:128081791G>T c.704C>A c.(703-705)cCt>cAt p.P235H COADREAD 2 128083319 128083319 + Missense_Mutation SNP T T C TCGA-D5-5538-01A-01D-1650-10 TCGA-D5-5538-10A-02D-1650-10 g.chr2:128083319T>C c.662A>G c.(661-663)gAt>gGt p.D221G COADREAD 2 128088048 128088048 + Missense_Mutation SNP C C A TCGA-D5-6537-01A-11D-1719-10 TCGA-D5-6537-10A-01D-1719-10 g.chr2:128088048C>A c.298G>T c.(298-300)Gac>Tac p.D100Y COADREAD 2 128093491 128093491 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:128093491T>G c.219A>C c.(217-219)aaA>aaC p.K73N ESCA 2 128075781 128075781 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 g.chr2:128075781T>G c.1158A>C c.(1156-1158)caA>caC p.Q386H ESCA 2 128075818 128075818 + Missense_Mutation SNP T T A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 g.chr2:128075818T>A c.1121A>T c.(1120-1122)tAt>tTt p.Y374F ESCA 2 128096511 128096511 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr2:128096511delT c.120delA c.(118-120)aaafs p.K40fs GBMLGG 2 128072388 128072388 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:128072388C>T c.1398G>A c.(1396-1398)caG>caA p.Q466Q HNSC 2 128066276 128066276 + Missense_Mutation SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 g.chr2:128066276G>A c.1519C>T c.(1519-1521)Cgg>Tgg p.R507W HNSC 2 128075777 128075777 + Nonsense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 g.chr2:128075777G>A c.1162C>T c.(1162-1164)Caa>Taa p.Q388* KIPAN 2 128066283 128066283 + Frame_Shift_Del DEL G G - TCGA-B0-5703-01A-11D-1534-10 TCGA-B0-5703-11A-01D-1534-10 g.chr2:128066283delG c.1512delC c.(1510-1512)gccfs p.A504fs KIPAN 2 128066323 128066323 + Missense_Mutation SNP C C A TCGA-B2-5641-01A-01D-1534-10 TCGA-B2-5641-10A-01D-1535-10 g.chr2:128066323C>A c.1472G>T c.(1471-1473)cGa>cTa p.R491L KIRC 2 128066283 128066283 + Frame_Shift_Del DEL G G - TCGA-B0-5703-01A-11D-1534-10 TCGA-B0-5703-11A-01D-1534-10 g.chr2:128066283delG c.1512delC c.(1510-1512)gccfs p.A504fs KIRC 2 128066323 128066323 + Missense_Mutation SNP C C A TCGA-B2-5641-01A-01D-1534-10 TCGA-B2-5641-10A-01D-1535-10 g.chr2:128066323C>A c.1472G>T c.(1471-1473)cGa>cTa p.R491L LGG 2 128072388 128072388 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:128072388C>T c.1398G>A c.(1396-1398)caG>caA p.Q466Q LIHC 2 128065249 128065249 + Missense_Mutation SNP T T C TCGA-DD-AAEK-01A-11D-A40R-10 TCGA-DD-AAEK-10A-01D-A40U-10 g.chr2:128065249T>C c.1766A>G c.(1765-1767)tAt>tGt p.Y589C LIHC 2 128065257 128065257 + Silent SNP G G C TCGA-DD-AAEA-01A-11D-A40R-10 TCGA-DD-AAEA-10A-01D-A40U-10 g.chr2:128065257G>C c.1758C>G c.(1756-1758)gtC>gtG p.V586V LIHC 2 128075251 128075251 + Missense_Mutation SNP T T C TCGA-DD-A3A1-01A-11D-A20W-10 TCGA-DD-A3A1-11A-11D-A20W-10 g.chr2:128075251T>C c.1280A>G c.(1279-1281)gAt>gGt p.D427G LIHC 2 128075798 128075798 + Nonsense_Mutation SNP C C A TCGA-CC-5261-01A-01D-A12Z-10 TCGA-CC-5261-10A-01D-A12Z-10 g.chr2:128075798C>A c.1141G>T c.(1141-1143)Gaa>Taa p.E381* LIHC 2 128084382 128084382 + Missense_Mutation SNP T T C TCGA-UB-AA0U-01A-11D-A382-10 TCGA-UB-AA0U-10A-01D-A385-10 g.chr2:128084382T>C c.478A>G c.(478-480)Aga>Gga p.R160G LIHC 2 128096589 128096589 + Missense_Mutation SNP C C A TCGA-DD-AAEH-01A-11D-A40R-10 TCGA-DD-AAEH-10A-01D-A40U-10 g.chr2:128096589C>A c.42G>T c.(40-42)ttG>ttT p.L14F LUAD 2 128066163 128066163 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr2:128066163G>C c.1632C>G c.(1630-1632)atC>atG p.I544M LUAD 2 128066328 128066328 + Silent SNP G G T TCGA-55-8203-01A-11D-2238-08 TCGA-55-8203-10A-01D-2238-08 g.chr2:128066328G>T c.1467C>A c.(1465-1467)atC>atA p.I489I LUAD 2 128072409 128072409 + Silent SNP C C A TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr2:128072409C>A c.1377G>T c.(1375-1377)gtG>gtT p.V459V LUAD 2 128075800 128075800 + Missense_Mutation SNP C C A TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr2:128075800C>A c.1139G>T c.(1138-1140)aGa>aTa p.R380I LUAD 2 128075837 128075837 + Missense_Mutation SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 g.chr2:128075837C>G c.1102G>C c.(1102-1104)Gga>Cga p.G368R LUAD 2 128081534 128081534 + Frame_Shift_Del DEL C C - TCGA-MN-A4N1-01A-11D-A24P-08 TCGA-MN-A4N1-10A-01D-A24P-08 g.chr2:128081534delC c.782delG c.(781-783)ggafs p.G262fs LUAD 2 128087548 128087548 + Missense_Mutation SNP A A C TCGA-17-Z015-01A-01W-0746-08 TCGA-17-Z015-11A-01W-0746-08 g.chr2:128087548A>C c.415T>G c.(415-417)Ttg>Gtg p.L139V LUAD 2 128088066 128088066 + Missense_Mutation SNP T T C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 g.chr2:128088066T>C c.280A>G c.(280-282)Act>Gct p.T94A OV 2 128072395 128072395 + Missense_Mutation SNP G G C TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 g.chr2:128072395G>C c.1391C>G c.(1390-1392)aCc>aGc p.T464S OV 2 128079651 128079651 + Missense_Mutation SNP G G T TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 g.chr2:128079651G>T c.1016C>A c.(1015-1017)aCc>aAc p.T339N OV 2 128083320 128083320 + Missense_Mutation SNP C C G TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 g.chr2:128083320C>G c.661G>C c.(661-663)Gat>Cat p.D221H PAAD 2 128065219 128065219 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:128065219A>G c.1796T>C c.(1795-1797)gTa>gCa p.V599A PAAD 2 128088062 128088062 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:128088062G>A c.284C>T c.(283-285)aCt>aTt p.T95I PRAD 2 128065338 128065338 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:128065338C>T c.1677G>A c.(1675-1677)ccG>ccA p.P559P READ 2 128072395 128072395 + Missense_Mutation SNP G G A TCGA-DC-6683-01A-11D-1826-10 TCGA-DC-6683-10A-01D-1826-10 g.chr2:128072395G>A c.1391C>T c.(1390-1392)aCc>aTc p.T464I READ 2 128081548 128081548 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:128081548C>A c.768G>T c.(766-768)gaG>gaT p.E256D SKCM 2 128066208 128066208 + Silent SNP G G A TCGA-FS-A4FD-06A-11D-A25O-08 TCGA-FS-A4FD-10B-01D-A25O-08 g.chr2:128066208G>A c.1587C>T c.(1585-1587)agC>agT p.S529S SKCM 2 128066222 128066222 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr2:128066222G>A c.1573C>T c.(1573-1575)Cca>Tca p.P525S SKCM 2 128079620 128079620 + Splice_Site SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr2:128079620A>C c.e12+1 SKCM 2 128079655 128079655 + Missense_Mutation SNP A A C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 g.chr2:128079655A>C c.1012T>G c.(1012-1014)Ttg>Gtg p.L338V SKCM 2 128079751 128079751 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr2:128079751G>A c.916C>T c.(916-918)Cat>Tat p.H306Y SKCM 2 128081558 128081558 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 g.chr2:128081558G>A c.758C>T c.(757-759)cCt>cTt p.P253L SKCM 2 128083323 128083323 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 g.chr2:128083323G>A c.658C>T c.(658-660)Ctt>Ttt p.L220F SKCM 2 128083324 128083324 + Silent SNP T T A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 g.chr2:128083324T>A c.657A>T c.(655-657)tcA>tcT p.S219S SKCM 2 128083346 128083346 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr2:128083346G>A c.635C>T c.(634-636)tCt>tTt p.S212F SKCM 2 128084364 128084364 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 g.chr2:128084364G>A c.496C>T c.(496-498)Ccc>Tcc p.P166S

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 2 128066317 128066317 single base substitution G C stop_gained S493* 1478C>G BLCA-US 2 128093472 128093472 single base substitution T C downstream_gene_variant BLCA-US 2 128093472 128093472 single base substitution T C missense_variant M80V 238A>G BOCA-FR 2 128089834 128089834 single base substitution T G intron_variant BRCA-EU 2 128052023 128052023 single base substitution G A downstream_gene_variant BRCA-EU 2 128052259 128052259 single base substitution A C downstream_gene_variant BRCA-EU 2 128054406 128054406 single base substitution G C downstream_gene_variant BRCA-EU 2 128054869 128054869 single base substitution C G downstream_gene_variant BRCA-EU 2 128055053 128055053 single base substitution A T downstream_gene_variant BRCA-EU 2 128055299 128055299 single base substitution C G downstream_gene_variant BRCA-EU 2 128055805 128055805 single base substitution G T downstream_gene_variant BRCA-EU 2 128055883 128055883 single base substitution G A downstream_gene_variant BRCA-EU 2 128056787 128056787 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 128056900 128056900 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 128056901 128056901 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 128062976 128062976 single base substitution T A 3_prime_UTR_variant BRCA-EU 2 128062976 128062976 single base substitution T A downstream_gene_variant BRCA-EU 2 128066633 128066633 single base substitution A G intron_variant BRCA-EU 2 128066698 128066698 single base substitution A C intron_variant BRCA-EU 2 128066856 128066856 single base substitution A C intron_variant BRCA-EU 2 128071564 128071564 single base substitution G A intron_variant BRCA-EU 2 128072502 128072502 single base substitution T G intron_variant BRCA-EU 2 128072532 128072532 single base substitution C G intron_variant BRCA-EU 2 128075237 128075237 deletion of <=200bp T - frameshift_variant T432 BRCA-EU 2 128079264 128079264 single base substitution A T intron_variant BRCA-EU 2 128079401 128079401 single base substitution T C intron_variant BRCA-EU 2 128080161 128080161 single base substitution G A intron_variant BRCA-EU 2 128080950 128080950 single base substitution A G intron_variant BRCA-EU 2 128082206 128082206 single base substitution T C intron_variant BRCA-EU 2 128082534 128082534 single base substitution G T intron_variant BRCA-EU 2 128085116 128085116 single base substitution G C intron_variant BRCA-EU 2 128085943 128085943 single base substitution C T intron_variant BRCA-EU 2 128086148 128086148 single base substitution T A intron_variant BRCA-EU 2 128088023 128088023 single base substitution C T missense_variant R108H 323G>A BRCA-EU 2 128089517 128089517 single base substitution C T intron_variant BRCA-EU 2 128089767 128089767 single base substitution G A intron_variant BRCA-EU 2 128090378 128090378 single base substitution G C downstream_gene_variant BRCA-EU 2 128090378 128090378 single base substitution G C intron_variant BRCA-EU 2 128094419 128094419 single base substitution A T downstream_gene_variant BRCA-EU 2 128094419 128094419 single base substitution A T intron_variant BRCA-EU 2 128095652 128095652 single base substitution A G intron_variant BRCA-EU 2 128096523 128096523 single base substitution T C synonymous_variant S36S 108A>G BRCA-EU 2 128096718 128096718 single base substitution A C intron_variant BRCA-EU 2 128096980 128096980 deletion of <=200bp A - intron_variant BRCA-EU 2 128097252 128097252 single base substitution C G intron_variant BRCA-EU 2 128098894 128098894 deletion of <=200bp A - intron_variant BRCA-EU 2 128103828 128103828 single base substitution G C intron_variant BRCA-EU 2 128103828 128103828 single base substitution G C upstream_gene_variant BRCA-EU 2 128103860 128103860 single base substitution G T intron_variant BRCA-EU 2 128103860 128103860 single base substitution G T upstream_gene_variant BRCA-EU 2 128104954 128104954 single base substitution G A intron_variant BRCA-EU 2 128104954 128104954 single base substitution G A upstream_gene_variant BRCA-EU 2 128105430 128105430 single base substitution G A intron_variant BRCA-EU 2 128105430 128105430 single base substitution G A upstream_gene_variant BRCA-EU 2 128105495 128105495 single base substitution G A intron_variant BRCA-EU 2 128105495 128105495 single base substitution G A upstream_gene_variant BRCA-EU 2 128106413 128106413 single base substitution G C intron_variant BRCA-EU 2 128107125 128107125 single base substitution C A intron_variant BRCA-EU 2 128107669 128107669 single base substitution G T intron_variant BRCA-EU 2 128108474 128108474 deletion of <=200bp A - intron_variant BRCA-EU 2 128109657 128109657 single base substitution T C intron_variant BRCA-EU 2 128111247 128111247 single base substitution G A intron_variant BRCA-EU 2 128111929 128111929 single base substitution A G intron_variant BRCA-EU 2 128112757 128112757 single base substitution C G intron_variant BRCA-EU 2 128113509 128113509 single base substitution C T intron_variant BRCA-EU 2 128114264 128114264 single base substitution G A intron_variant BRCA-EU 2 128114381 128114381 single base substitution G C intron_variant BRCA-EU 2 128115103 128115103 single base substitution G T intron_variant BRCA-EU 2 128115138 128115138 single base substitution G C intron_variant BRCA-EU 2 128116442 128116442 single base substitution T A intron_variant BRCA-EU 2 128119225 128119225 single base substitution T A intron_variant BRCA-EU 2 128121511 128121511 single base substitution C T intron_variant BRCA-EU 2 128122680 128122680 single base substitution G A intron_variant BRCA-EU 2 128126573 128126573 single base substitution G C intron_variant BRCA-EU 2 128127483 128127483 single base substitution T G intron_variant BRCA-EU 2 128127687 128127687 deletion of <=200bp G - intron_variant BRCA-EU 2 128128466 128128466 single base substitution G A intron_variant BRCA-EU 2 128129137 128129137 single base substitution G A intron_variant BRCA-EU 2 128129766 128129766 single base substitution G A intron_variant BRCA-EU 2 128130024 128130024 single base substitution T A intron_variant BRCA-EU 2 128130109 128130109 single base substitution C T intron_variant BRCA-EU 2 128130933 128130933 single base substitution C G intron_variant BRCA-EU 2 128131472 128131472 single base substitution G A intron_variant BRCA-EU 2 128132355 128132355 single base substitution G C intron_variant BRCA-EU 2 128134200 128134200 single base substitution G A intron_variant BRCA-EU 2 128136295 128136295 single base substitution A G intron_variant BRCA-EU 2 128136714 128136714 single base substitution C A intron_variant BRCA-EU 2 128141750 128141750 single base substitution C T intron_variant BRCA-EU 2 128141766 128141766 single base substitution C T intron_variant BRCA-EU 2 128141913 128141913 single base substitution C T intron_variant BRCA-EU 2 128142495 128142495 single base substitution G A intron_variant BRCA-EU 2 128143358 128143358 single base substitution G A intron_variant BRCA-EU 2 128143509 128143509 deletion of <=200bp A - intron_variant BRCA-EU 2 128144772 128144772 single base substitution C A intron_variant BRCA-EU 2 128146198 128146198 single base substitution G C upstream_gene_variant BRCA-EU 2 128147000 128147000 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 128149446 128149446 single base substitution G A upstream_gene_variant BRCA-EU 2 128150994 128150994 single base substitution G A upstream_gene_variant BRCA-FR 2 128054548 128054548 single base substitution G C downstream_gene_variant BRCA-FR 2 128056529 128056529 single base substitution T A 3_prime_UTR_variant BRCA-FR 2 128057520 128057520 single base substitution G C 3_prime_UTR_variant BRCA-FR 2 128068793 128068793 single base substitution G A intron_variant BRCA-FR 2 128070950 128070950 single base substitution A T intron_variant BRCA-FR 2 128080161 128080161 single base substitution G A intron_variant BRCA-FR 2 128103828 128103828 single base substitution G C intron_variant BRCA-FR 2 128103828 128103828 single base substitution G C upstream_gene_variant BRCA-FR 2 128103860 128103860 single base substitution G T intron_variant BRCA-FR 2 128103860 128103860 single base substitution G T upstream_gene_variant BRCA-FR 2 128124797 128124797 single base substitution G A intron_variant BRCA-FR 2 128136391 128136391 single base substitution G A intron_variant BRCA-FR 2 128141766 128141766 single base substitution C T intron_variant BRCA-FR 2 128146198 128146198 single base substitution G C upstream_gene_variant BRCA-UK 2 128066633 128066633 single base substitution A G intron_variant BRCA-UK 2 128088403 128088403 single base substitution G C intron_variant BRCA-UK 2 128123908 128123908 single base substitution G T intron_variant BRCA-UK 2 128125190 128125190 single base substitution G A intron_variant BRCA-UK 2 128142571 128142571 single base substitution G A intron_variant BRCA-UK 2 128142733 128142733 single base substitution C G intron_variant BRCA-US 2 128066245 128066245 single base substitution C A missense_variant G517V 1550G>T BRCA-US 2 128075243 128075243 deletion of <=200bp C - frameshift_variant E430 BRCA-US 2 128075321 128075321 single base substitution C T missense_variant E404K 1210G>A BRCA-US 2 128084359 128084359 single base substitution T A synonymous_variant P167P 501A>T BTCA-JP 2 128066336 128066336 single base substitution C T missense_variant A487T 1459G>A BTCA-JP 2 128081842 128081842 single base substitution A C intron_variant BTCA-JP 2 128096600 128096600 single base substitution T C missense_variant M11V 31A>G CESC-US 2 128088060 128088060 single base substitution G A stop_gained Q96* 286C>T CLLE-ES 2 128095837 128095837 single base substitution C T intron_variant CLLE-ES 2 128102819 128102819 single base substitution C A intron_variant CLLE-ES 2 128102819 128102819 single base substitution C A upstream_gene_variant CLLE-ES 2 128139200 128139200 single base substitution G A intron_variant COAD-US 2 128079649 128079649 single base substitution C T missense_variant V340I 1018G>A COAD-US 2 128079806 128079806 single base substitution A G synonymous_variant A287A 861T>C COAD-US 2 128081791 128081791 single base substitution G T missense_variant P235H 704C>A COAD-US 2 128084360 128084360 deletion of <=200bp G - frameshift_variant P167 COAD-US 2 128088048 128088048 single base substitution C A missense_variant D100Y 298G>T COAD-US 2 128093491 128093491 single base substitution T G downstream_gene_variant COAD-US 2 128093491 128093491 single base substitution T G missense_variant K73N 219A>C COCA-CN 2 128065309 128065309 single base substitution G A missense_variant A569V 1706C>T COCA-CN 2 128066073 128066073 single base substitution T A intron_variant COCA-CN 2 128066275 128066275 single base substitution C T missense_variant R507Q 1520G>A COCA-CN 2 128075281 128075281 single base substitution C T missense_variant R417Q 1250G>A COCA-CN 2 128075798 128075798 single base substitution C A stop_gained E381* 1141G>T COCA-CN 2 128095430 128095430 single base substitution C A intron_variant COCA-CN 2 128096682 128096682 single base substitution A G intron_variant COCA-CN 2 128107883 128107883 single base substitution T C intron_variant EOPC-DE 2 128076953 128076953 single base substitution G C intron_variant ESAD-UK 2 128051698 128051698 single base substitution A G downstream_gene_variant ESAD-UK 2 128052698 128052698 single base substitution A T downstream_gene_variant ESAD-UK 2 128055096 128055096 single base substitution G T downstream_gene_variant ESAD-UK 2 128056530 128056530 insertion of <=200bp - A 3_prime_UTR_variant ESAD-UK 2 128056530 128056530 single base substitution A T 3_prime_UTR_variant ESAD-UK 2 128057856 128057856 deletion of <=200bp T - 3_prime_UTR_variant ESAD-UK 2 128058488 128058488 single base substitution A C 3_prime_UTR_variant ESAD-UK 2 128063311 128063311 deletion of <=200bp A - 3_prime_UTR_variant ESAD-UK 2 128063311 128063311 deletion of <=200bp A - downstream_gene_variant ESAD-UK 2 128064057 128064057 deletion of <=200bp T - 3_prime_UTR_variant ESAD-UK 2 128064057 128064057 deletion of <=200bp T - downstream_gene_variant ESAD-UK 2 128070552 128070552 single base substitution A T intron_variant ESAD-UK 2 128071808 128071808 single base substitution C T intron_variant ESAD-UK 2 128073269 128073269 single base substitution G A intron_variant ESAD-UK 2 128073941 128073941 single base substitution C A intron_variant ESAD-UK 2 128074088 128074088 single base substitution G C intron_variant ESAD-UK 2 128074250 128074250 single base substitution C G intron_variant ESAD-UK 2 128079624 128079624 single base substitution C T missense_variant R348H 1043G>A ESAD-UK 2 128081019 128081019 single base substitution G A intron_variant ESAD-UK 2 128083072 128083072 single base substitution A C intron_variant ESAD-UK 2 128085006 128085006 single base substitution C A intron_variant ESAD-UK 2 128085897 128085897 single base substitution C A intron_variant ESAD-UK 2 128086162 128086162 single base substitution C T intron_variant ESAD-UK 2 128086861 128086861 single base substitution G A intron_variant ESAD-UK 2 128093199 128093199 single base substitution C A downstream_gene_variant ESAD-UK 2 128093199 128093199 single base substitution C A intron_variant ESAD-UK 2 128093479 128093479 single base substitution T C downstream_gene_variant ESAD-UK 2 128093479 128093479 single base substitution T C synonymous_variant G77G 231A>G ESAD-UK 2 128095911 128095911 single base substitution A T intron_variant ESAD-UK 2 128096969 128096969 single base substitution A T intron_variant ESAD-UK 2 128098658 128098658 single base substitution C T intron_variant ESAD-UK 2 128099784 128099784 single base substitution G C intron_variant ESAD-UK 2 128100619 128100619 single base substitution T C intron_variant ESAD-UK 2 128101539 128101539 single base substitution G A intron_variant ESAD-UK 2 128101539 128101539 single base substitution G A upstream_gene_variant ESAD-UK 2 128103185 128103185 single base substitution C T intron_variant ESAD-UK 2 128103185 128103185 single base substitution C T upstream_gene_variant ESAD-UK 2 128103472 128103472 single base substitution C T intron_variant ESAD-UK 2 128103472 128103472 single base substitution C T upstream_gene_variant ESAD-UK 2 128103778 128103778 single base substitution G A intron_variant ESAD-UK 2 128103778 128103778 single base substitution G A upstream_gene_variant ESAD-UK 2 128104339 128104339 single base substitution G A intron_variant ESAD-UK 2 128104339 128104339 single base substitution G A upstream_gene_variant ESAD-UK 2 128105673 128105673 single base substitution T G intron_variant ESAD-UK 2 128105673 128105673 single base substitution T G upstream_gene_variant ESAD-UK 2 128109396 128109396 single base substitution G A intron_variant ESAD-UK 2 128109444 128109444 insertion of <=200bp - T intron_variant ESAD-UK 2 128110923 128110923 single base substitution C T intron_variant ESAD-UK 2 128111980 128111980 single base substitution T C intron_variant ESAD-UK 2 128113201 128113201 single base substitution T G intron_variant ESAD-UK 2 128113933 128113933 single base substitution G A intron_variant ESAD-UK 2 128115287 128115287 single base substitution T A intron_variant ESAD-UK 2 128116024 128116024 single base substitution T G intron_variant ESAD-UK 2 128116026 128116026 single base substitution A C intron_variant ESAD-UK 2 128117380 128117380 single base substitution C T intron_variant ESAD-UK 2 128117758 128117758 single base substitution A G intron_variant ESAD-UK 2 128120538 128120538 single base substitution G A intron_variant ESAD-UK 2 128120581 128120581 insertion of <=200bp - A intron_variant ESAD-UK 2 128125363 128125363 single base substitution C T intron_variant ESAD-UK 2 128129960 128129960 single base substitution G A intron_variant ESAD-UK 2 128132698 128132698 deletion of <=200bp G - intron_variant ESAD-UK 2 128134898 128134898 deletion of <=200bp A - intron_variant ESAD-UK 2 128135054 128135054 single base substitution T C intron_variant ESAD-UK 2 128136195 128136195 single base substitution A G intron_variant ESAD-UK 2 128139076 128139076 insertion of <=200bp - T intron_variant ESAD-UK 2 128141182 128141182 single base substitution G C intron_variant ESAD-UK 2 128141751 128141751 single base substitution G A intron_variant ESAD-UK 2 128145510 128145510 single base substitution G A intron_variant ESAD-UK 2 128145510 128145510 single base substitution G A upstream_gene_variant ESAD-UK 2 128147700 128147700 single base substitution C A upstream_gene_variant KIRC-US 2 128066283 128066283 deletion of <=200bp G - frameshift_variant A504 KIRC-US 2 128066323 128066323 single base substitution C A missense_variant R491L 1472G>T LAML-KR 2 128075639 128075639 single base substitution G T intron_variant LAML-KR 2 128081386 128081386 single base substitution A G intron_variant LAML-KR 2 128111275 128111275 single base substitution G T intron_variant LICA-FR 2 128052168 128052168 single base substitution A G downstream_gene_variant LICA-FR 2 128055311 128055311 single base substitution C A downstream_gene_variant LICA-FR 2 128075800 128075800 single base substitution C A missense_variant R380I 1139G>T LICA-FR 2 128079726 128079726 single base substitution C T missense_variant S314N 941G>A LICA-FR 2 128090595 128090595 single base substitution A G downstream_gene_variant LICA-FR 2 128090595 128090595 single base substitution A G intron_variant LICA-FR 2 128099965 128099965 insertion of <=200bp - GTGTGT intron_variant LICA-FR 2 128109454 128109454 insertion of <=200bp - T intron_variant LICA-FR 2 128109840 128109840 single base substitution G A intron_variant LICA-FR 2 128114342 128114342 single base substitution T C intron_variant LIHC-US 2 128075798 128075798 single base substitution C A stop_gained E381* 1141G>T LINC-JP 2 128056158 128056158 single base substitution C T downstream_gene_variant LINC-JP 2 128056529 128056529 single base substitution T A 3_prime_UTR_variant LINC-JP 2 128067939 128067939 single base substitution T C intron_variant LINC-JP 2 128079038 128079038 single base substitution T C intron_variant LINC-JP 2 128084392 128084392 single base substitution A C splice_region_variant LINC-JP 2 128091705 128091705 single base substitution G T downstream_gene_variant LINC-JP 2 128091705 128091705 single base substitution G T intron_variant LINC-JP 2 128091706 128091706 single base substitution C A downstream_gene_variant LINC-JP 2 128091706 128091706 single base substitution C A intron_variant LINC-JP 2 128099999 128099999 single base substitution A G intron_variant LINC-JP 2 128100001 128100001 single base substitution T G intron_variant LINC-JP 2 128108048 128108048 single base substitution G A intron_variant LINC-JP 2 128136569 128136569 single base substitution T A intron_variant LIRI-JP 2 128052542 128052542 single base substitution C A downstream_gene_variant LIRI-JP 2 128056111 128056126 deletion of <=200bp TACTGGAAAGATTTGG - downstream_gene_variant LIRI-JP 2 128056962 128056962 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 128057287 128057287 single base substitution T A 3_prime_UTR_variant LIRI-JP 2 128057294 128057294 single base substitution A C 3_prime_UTR_variant LIRI-JP 2 128057757 128057758 deletion of <=200bp AT - 3_prime_UTR_variant LIRI-JP 2 128058062 128058062 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 128058347 128058347 single base substitution C A 3_prime_UTR_variant LIRI-JP 2 128059663 128059663 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 128062008 128062008 single base substitution C T 3_prime_UTR_variant LIRI-JP 2 128062008 128062008 single base substitution C T downstream_gene_variant LIRI-JP 2 128062424 128062424 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 128062424 128062424 single base substitution T C downstream_gene_variant LIRI-JP 2 128064293 128064297 deletion of <=200bp TAATT - 3_prime_UTR_variant LIRI-JP 2 128064293 128064297 deletion of <=200bp TAATT - downstream_gene_variant LIRI-JP 2 128065057 128065057 single base substitution C T 3_prime_UTR_variant LIRI-JP 2 128065633 128065633 single base substitution T G intron_variant LIRI-JP 2 128065643 128065643 single base substitution T C intron_variant LIRI-JP 2 128066927 128066927 single base substitution T C intron_variant LIRI-JP 2 128068088 128068088 single base substitution C T intron_variant LIRI-JP 2 128068990 128068990 single base substitution C A intron_variant LIRI-JP 2 128070008 128070008 single base substitution T G intron_variant LIRI-JP 2 128072706 128072706 single base substitution T C intron_variant LIRI-JP 2 128074377 128074377 single base substitution A T intron_variant LIRI-JP 2 128075533 128075533 single base substitution T C intron_variant LIRI-JP 2 128076762 128076762 single base substitution C T intron_variant LIRI-JP 2 128077909 128077909 single base substitution A G intron_variant LIRI-JP 2 128078802 128078802 single base substitution T A intron_variant LIRI-JP 2 128080541 128080541 single base substitution T C intron_variant LIRI-JP 2 128081592 128081592 single base substitution T C intron_variant LIRI-JP 2 128083103 128083103 single base substitution A C intron_variant LIRI-JP 2 128083265 128083265 single base substitution T C intron_variant LIRI-JP 2 128083602 128083602 single base substitution T G intron_variant LIRI-JP 2 128084380 128084380 single base substitution T C synonymous_variant R160R 480A>G LIRI-JP 2 128084767 128084770 deletion of <=200bp TATT - intron_variant LIRI-JP 2 128086813 128086813 single base substitution T C intron_variant LIRI-JP 2 128087778 128087778 single base substitution C A intron_variant LIRI-JP 2 128088014 128088014 single base substitution T A missense_variant H111L 332A>T LIRI-JP 2 128088075 128088075 single base substitution T C missense_variant I91V 271A>G LIRI-JP 2 128089613 128089623 deletion of <=200bp TAATTTTGTAT - intron_variant LIRI-JP 2 128089861 128089861 single base substitution C A intron_variant LIRI-JP 2 128090152 128090152 single base substitution G A intron_variant LIRI-JP 2 128093629 128093629 single base substitution T C downstream_gene_variant LIRI-JP 2 128093629 128093629 single base substitution T C intron_variant LIRI-JP 2 128094400 128094400 single base substitution T C downstream_gene_variant LIRI-JP 2 128094400 128094400 single base substitution T C intron_variant LIRI-JP 2 128095435 128095435 single base substitution T C intron_variant LIRI-JP 2 128096511 128096511 deletion of <=200bp T - frameshift_variant K40 LIRI-JP 2 128098475 128098475 single base substitution T A intron_variant LIRI-JP 2 128099193 128099193 single base substitution C A intron_variant LIRI-JP 2 128099222 128099222 single base substitution G C intron_variant LIRI-JP 2 128099621 128099621 single base substitution T G intron_variant LIRI-JP 2 128099675 128099678 deletion of <=200bp AAAT - intron_variant LIRI-JP 2 128100343 128100348 deletion of <=200bp GACCAA - intron_variant LIRI-JP 2 128102819 128102819 single base substitution C A intron_variant LIRI-JP 2 128102819 128102819 single base substitution C A upstream_gene_variant LIRI-JP 2 128104788 128104788 single base substitution T C intron_variant LIRI-JP 2 128104788 128104788 single base substitution T C upstream_gene_variant LIRI-JP 2 128109639 128109639 single base substitution G A intron_variant LIRI-JP 2 128112534 128112534 single base substitution A C intron_variant LIRI-JP 2 128113884 128113884 single base substitution T C intron_variant LIRI-JP 2 128114672 128114672 single base substitution A G intron_variant LIRI-JP 2 128116045 128116045 single base substitution T C intron_variant LIRI-JP 2 128116113 128116113 single base substitution T C intron_variant LIRI-JP 2 128120673 128120673 single base substitution G A intron_variant LIRI-JP 2 128123399 128123399 single base substitution C G intron_variant LIRI-JP 2 128123478 128123478 single base substitution C A intron_variant LIRI-JP 2 128126488 128126488 single base substitution G A intron_variant LIRI-JP 2 128126494 128126494 single base substitution T G intron_variant LIRI-JP 2 128129131 128129131 single base substitution A C intron_variant LIRI-JP 2 128129569 128129569 single base substitution T C intron_variant LIRI-JP 2 128130868 128130868 single base substitution A T intron_variant LIRI-JP 2 128132757 128132757 single base substitution T A intron_variant LIRI-JP 2 128132969 128132969 single base substitution T G intron_variant LIRI-JP 2 128133175 128133175 single base substitution G T intron_variant LIRI-JP 2 128136858 128136858 single base substitution T C intron_variant LIRI-JP 2 128137492 128137492 single base substitution C T intron_variant LIRI-JP 2 128137756 128137756 single base substitution C T intron_variant LIRI-JP 2 128138133 128138133 single base substitution G T intron_variant LIRI-JP 2 128138990 128138990 single base substitution T C intron_variant LIRI-JP 2 128139716 128139716 single base substitution T C intron_variant LIRI-JP 2 128139807 128139807 single base substitution C G intron_variant LIRI-JP 2 128142705 128142705 single base substitution T C intron_variant LIRI-JP 2 128145889 128145889 single base substitution T G 5_prime_UTR_variant LIRI-JP 2 128145889 128145889 single base substitution T G upstream_gene_variant LIRI-JP 2 128146345 128146345 single base substitution T G upstream_gene_variant LIRI-JP 2 128146522 128146522 single base substitution C T upstream_gene_variant LIRI-JP 2 128148478 128148478 single base substitution A G upstream_gene_variant LIRI-JP 2 128149573 128149573 single base substitution A G upstream_gene_variant LIRI-JP 2 128149696 128149696 single base substitution A G upstream_gene_variant LIRI-JP 2 128150527 128150527 single base substitution A C upstream_gene_variant LIRI-JP 2 128150532 128150532 single base substitution A G upstream_gene_variant LUSC-KR 2 128051641 128051641 single base substitution C A downstream_gene_variant LUSC-KR 2 128055017 128055017 single base substitution G A downstream_gene_variant LUSC-KR 2 128060291 128060291 single base substitution C T 3_prime_UTR_variant LUSC-KR 2 128060291 128060291 single base substitution C T downstream_gene_variant LUSC-KR 2 128064810 128064810 single base substitution G C 3_prime_UTR_variant LUSC-KR 2 128064810 128064810 single base substitution G C downstream_gene_variant LUSC-KR 2 128064945 128064945 single base substitution A C 3_prime_UTR_variant LUSC-KR 2 128064945 128064945 single base substitution A C downstream_gene_variant LUSC-KR 2 128065082 128065082 single base substitution G C 3_prime_UTR_variant LUSC-KR 2 128070199 128070199 single base substitution T G intron_variant LUSC-KR 2 128082975 128082975 single base substitution C A intron_variant LUSC-KR 2 128091978 128091978 single base substitution A T downstream_gene_variant LUSC-KR 2 128091978 128091978 single base substitution A T intron_variant LUSC-KR 2 128092366 128092366 single base substitution G T downstream_gene_variant LUSC-KR 2 128092366 128092366 single base substitution G T intron_variant LUSC-KR 2 128099895 128099895 single base substitution C A intron_variant LUSC-KR 2 128102449 128102449 single base substitution T G intron_variant LUSC-KR 2 128102449 128102449 single base substitution T G upstream_gene_variant LUSC-KR 2 128109950 128109950 single base substitution C A intron_variant LUSC-KR 2 128111256 128111256 single base substitution C T intron_variant LUSC-KR 2 128111265 128111265 single base substitution C G intron_variant LUSC-KR 2 128111829 128111829 single base substitution G A intron_variant LUSC-KR 2 128112360 128112360 single base substitution C T intron_variant LUSC-KR 2 128121736 128121736 single base substitution G A intron_variant LUSC-KR 2 128129765 128129765 single base substitution T C intron_variant LUSC-KR 2 128133475 128133475 single base substitution C A intron_variant LUSC-KR 2 128136612 128136612 single base substitution G A intron_variant LUSC-KR 2 128144430 128144430 single base substitution T G intron_variant LUSC-KR 2 128146542 128146542 single base substitution G C upstream_gene_variant LUSC-KR 2 128147336 128147336 single base substitution G A upstream_gene_variant LUSC-KR 2 128148041 128148041 single base substitution G A upstream_gene_variant LUSC-KR 2 128148509 128148509 single base substitution G C upstream_gene_variant LUSC-KR 2 128148656 128148656 single base substitution G A upstream_gene_variant LUSC-KR 2 128148945 128148945 single base substitution G A upstream_gene_variant LUSC-KR 2 128149379 128149379 single base substitution G A upstream_gene_variant MALY-DE 2 128053445 128053445 single base substitution C T downstream_gene_variant MALY-DE 2 128056437 128056437 single base substitution T C 3_prime_UTR_variant MALY-DE 2 128056582 128056582 single base substitution C G 3_prime_UTR_variant MALY-DE 2 128060018 128060019 deletion of <=200bp CA - 3_prime_UTR_variant MALY-DE 2 128060018 128060019 deletion of <=200bp CA - downstream_gene_variant MALY-DE 2 128067711 128067711 single base substitution T C intron_variant MALY-DE 2 128067857 128067857 single base substitution T C intron_variant MALY-DE 2 128067978 128067978 single base substitution A G intron_variant MALY-DE 2 128067991 128067991 single base substitution A T intron_variant MALY-DE 2 128070107 128070107 single base substitution T A intron_variant MALY-DE 2 128072100 128072100 single base substitution T A intron_variant MALY-DE 2 128084325 128084325 single base substitution G A missense_variant R179W 535C>T MALY-DE 2 128089132 128089132 single base substitution A C intron_variant MALY-DE 2 128091751 128091751 single base substitution A G downstream_gene_variant MALY-DE 2 128091751 128091751 single base substitution A G intron_variant MALY-DE 2 128092086 128092086 single base substitution A T downstream_gene_variant MALY-DE 2 128092086 128092086 single base substitution A T intron_variant MALY-DE 2 128095078 128095078 deletion of <=200bp A - downstream_gene_variant MALY-DE 2 128095078 128095078 deletion of <=200bp A - intron_variant MALY-DE 2 128098787 128098787 single base substitution G C intron_variant MALY-DE 2 128103807 128103808 deletion of <=200bp AC - intron_variant MALY-DE 2 128103807 128103808 deletion of <=200bp AC - upstream_gene_variant MALY-DE 2 128115602 128115602 single base substitution T C intron_variant MALY-DE 2 128120048 128120048 single base substitution A G intron_variant MALY-DE 2 128120125 128120125 single base substitution G A intron_variant MALY-DE 2 128123987 128123987 single base substitution C A intron_variant MALY-DE 2 128129982 128129982 single base substitution T C intron_variant MALY-DE 2 128132776 128132776 single base substitution G A intron_variant MALY-DE 2 128149677 128149677 single base substitution T C upstream_gene_variant MELA-AU 2 128051578 128051578 single base substitution G A downstream_gene_variant MELA-AU 2 128051693 128051693 single base substitution C T downstream_gene_variant MELA-AU 2 128051750 128051750 single base substitution C T downstream_gene_variant MELA-AU 2 128051807 128051807 single base substitution G A downstream_gene_variant MELA-AU 2 128051997 128051997 single base substitution A T downstream_gene_variant MELA-AU 2 128052598 128052598 single base substitution C T downstream_gene_variant MELA-AU 2 128053178 128053178 single base substitution G A downstream_gene_variant MELA-AU 2 128053471 128053471 single base substitution C T downstream_gene_variant MELA-AU 2 128053719 128053719 single base substitution G A downstream_gene_variant MELA-AU 2 128053771 128053771 single base substitution G A downstream_gene_variant MELA-AU 2 128054030 128054030 single base substitution G A downstream_gene_variant MELA-AU 2 128054247 128054247 single base substitution G A downstream_gene_variant MELA-AU 2 128054257 128054257 single base substitution G A downstream_gene_variant MELA-AU 2 128054427 128054428 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 128055016 128055017 multiple base substitution (>=2bp and <=200bp) AG CA downstream_gene_variant MELA-AU 2 128056577 128056577 single base substitution T A 3_prime_UTR_variant MELA-AU 2 128056832 128056832 single base substitution G A 3_prime_UTR_variant MELA-AU 2 128057221 128057221 single base substitution G A 3_prime_UTR_variant MELA-AU 2 128057241 128057241 single base substitution A T 3_prime_UTR_variant MELA-AU 2 128057988 128057988 single base substitution A T 3_prime_UTR_variant MELA-AU 2 128059020 128059020 single base substitution T C 3_prime_UTR_variant MELA-AU 2 128059032 128059032 single base substitution C T 3_prime_UTR_variant MELA-AU 2 128059571 128059571 single base substitution G A 3_prime_UTR_variant MELA-AU 2 128060383 128060383 single base substitution G A 3_prime_UTR_variant MELA-AU 2 128060383 128060383 single base substitution G A downstream_gene_variant MELA-AU 2 128060447 128060447 single base substitution A G 3_prime_UTR_variant MELA-AU 2 128060447 128060447 single base substitution A G downstream_gene_variant MELA-AU 2 128061029 128061030 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 2 128061029 128061030 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 128061804 128061804 single base substitution G A 3_prime_UTR_variant MELA-AU 2 128061804 128061804 single base substitution G A downstream_gene_variant MELA-AU 2 128061964 128061964 single base substitution G A 3_prime_UTR_variant MELA-AU 2 128061964 128061964 single base substitution G A downstream_gene_variant MELA-AU 2 128062673 128062673 single base substitution G A 3_prime_UTR_variant MELA-AU 2 128062673 128062673 single base substitution G A downstream_gene_variant MELA-AU 2 128063133 128063133 single base substitution C T 3_prime_UTR_variant MELA-AU 2 128063133 128063133 single base substitution C T downstream_gene_variant MELA-AU 2 128063343 128063343 single base substitution C T 3_prime_UTR_variant MELA-AU 2 128063343 128063343 single base substitution C T downstream_gene_variant MELA-AU 2 128064005 128064005 single base substitution G A 3_prime_UTR_variant MELA-AU 2 128064005 128064005 single base substitution G A downstream_gene_variant MELA-AU 2 128064696 128064696 single base substitution G A 3_prime_UTR_variant MELA-AU 2 128064696 128064696 single base substitution G A downstream_gene_variant MELA-AU 2 128065564 128065564 single base substitution T A intron_variant MELA-AU 2 128066222 128066222 single base substitution G A missense_variant P525S 1573C>T MELA-AU 2 128067833 128067833 single base substitution G A intron_variant MELA-AU 2 128068842 128068842 single base substitution A G intron_variant MELA-AU 2 128068974 128068974 single base substitution G A intron_variant MELA-AU 2 128069613 128069613 single base substitution G A intron_variant MELA-AU 2 128070027 128070027 single base substitution G A intron_variant MELA-AU 2 128070550 128070550 single base substitution A T intron_variant MELA-AU 2 128070552 128070552 single base substitution A T intron_variant MELA-AU 2 128071487 128071488 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 128071917 128071917 single base substitution G A intron_variant MELA-AU 2 128071989 128071989 single base substitution G A intron_variant MELA-AU 2 128072028 128072028 single base substitution G A intron_variant MELA-AU 2 128072154 128072154 single base substitution G A intron_variant MELA-AU 2 128072372 128072372 single base substitution G T missense_variant H472N 1414C>A MELA-AU 2 128072384 128072384 single base substitution G A synonymous_variant L468L 1402C>T MELA-AU 2 128072750 128072750 single base substitution G A intron_variant MELA-AU 2 128075448 128075448 single base substitution A G intron_variant MELA-AU 2 128075665 128075665 single base substitution G A intron_variant MELA-AU 2 128076010 128076010 single base substitution G A intron_variant MELA-AU 2 128076481 128076481 single base substitution G A intron_variant MELA-AU 2 128076627 128076627 single base substitution G A intron_variant MELA-AU 2 128077873 128077873 single base substitution G A intron_variant MELA-AU 2 128077875 128077875 single base substitution A G intron_variant MELA-AU 2 128078603 128078603 single base substitution G A intron_variant MELA-AU 2 128078797 128078797 single base substitution G A intron_variant MELA-AU 2 128078898 128078898 single base substitution G A intron_variant MELA-AU 2 128079020 128079020 single base substitution G A intron_variant MELA-AU 2 128079638 128079638 single base substitution G A synonymous_variant I343I 1029C>T MELA-AU 2 128080940 128080940 single base substitution G A intron_variant MELA-AU 2 128080941 128080941 single base substitution G A intron_variant MELA-AU 2 128081295 128081296 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 128081397 128081397 single base substitution G A intron_variant MELA-AU 2 128082430 128082430 single base substitution G A intron_variant MELA-AU 2 128082751 128082751 single base substitution G A intron_variant MELA-AU 2 128083167 128083212 deletion of <=200bp GGTGGGAGGACTGATGGAGCCAAGGAGGTCAAGGCTGCAGTAAGCC - intron_variant MELA-AU 2 128083682 128083682 single base substitution T C intron_variant MELA-AU 2 128084435 128084435 single base substitution G A intron_variant MELA-AU 2 128085263 128085263 single base substitution G A intron_variant MELA-AU 2 128086256 128086257 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 128086668 128086668 single base substitution G A intron_variant MELA-AU 2 128086754 128086754 single base substitution G A intron_variant MELA-AU 2 128087653 128087653 single base substitution A G intron_variant MELA-AU 2 128087810 128087810 single base substitution A T intron_variant MELA-AU 2 128087856 128087856 single base substitution T C intron_variant MELA-AU 2 128088629 128088629 single base substitution T C intron_variant MELA-AU 2 128088804 128088804 single base substitution G A intron_variant MELA-AU 2 128088899 128088899 single base substitution G A intron_variant MELA-AU 2 128089730 128089730 single base substitution G A intron_variant MELA-AU 2 128089874 128089874 single base substitution G A intron_variant MELA-AU 2 128089879 128089879 single base substitution G A intron_variant MELA-AU 2 128090750 128090750 single base substitution G A downstream_gene_variant MELA-AU 2 128090750 128090750 single base substitution G A intron_variant MELA-AU 2 128092227 128092227 single base substitution C T downstream_gene_variant MELA-AU 2 128092227 128092227 single base substitution C T intron_variant MELA-AU 2 128092248 128092249 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 128092248 128092249 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 128092371 128092371 single base substitution G A downstream_gene_variant MELA-AU 2 128092371 128092371 single base substitution G A intron_variant MELA-AU 2 128092450 128092450 single base substitution G A downstream_gene_variant MELA-AU 2 128092450 128092450 single base substitution G A intron_variant MELA-AU 2 128094086 128094086 single base substitution G A downstream_gene_variant MELA-AU 2 128094086 128094086 single base substitution G A intron_variant MELA-AU 2 128094264 128094264 single base substitution G A downstream_gene_variant MELA-AU 2 128094264 128094264 single base substitution G A intron_variant MELA-AU 2 128094479 128094479 single base substitution G A downstream_gene_variant MELA-AU 2 128094479 128094479 single base substitution G A intron_variant MELA-AU 2 128094988 128094988 single base substitution G A downstream_gene_variant MELA-AU 2 128094988 128094988 single base substitution G A intron_variant MELA-AU 2 128095480 128095480 single base substitution G A intron_variant MELA-AU 2 128095727 128095727 single base substitution C T intron_variant MELA-AU 2 128096979 128096979 single base substitution G A intron_variant MELA-AU 2 128097279 128097279 single base substitution A G intron_variant MELA-AU 2 128097813 128097813 single base substitution A T intron_variant MELA-AU 2 128098526 128098526 single base substitution A T intron_variant MELA-AU 2 128098566 128098566 single base substitution G A intron_variant MELA-AU 2 128098796 128098796 single base substitution G A intron_variant MELA-AU 2 128099037 128099063 deletion of <=200bp ACTGGGCACTTATTTACCCATAAGTAC - intron_variant MELA-AU 2 128099091 128099091 single base substitution G A intron_variant MELA-AU 2 128100495 128100495 single base substitution C T intron_variant MELA-AU 2 128101037 128101037 single base substitution G A intron_variant MELA-AU 2 128101037 128101037 single base substitution G A upstream_gene_variant MELA-AU 2 128101283 128101283 single base substitution G A intron_variant MELA-AU 2 128101283 128101283 single base substitution G A upstream_gene_variant MELA-AU 2 128101508 128101508 single base substitution G A intron_variant MELA-AU 2 128101508 128101508 single base substitution G A upstream_gene_variant MELA-AU 2 128102465 128102465 single base substitution G A intron_variant MELA-AU 2 128102465 128102465 single base substitution G A upstream_gene_variant MELA-AU 2 128102883 128102883 single base substitution A G intron_variant MELA-AU 2 128102883 128102883 single base substitution A G upstream_gene_variant MELA-AU 2 128103036 128103036 single base substitution G A intron_variant MELA-AU 2 128103036 128103036 single base substitution G A upstream_gene_variant MELA-AU 2 128103255 128103255 single base substitution C T intron_variant MELA-AU 2 128103255 128103255 single base substitution C T upstream_gene_variant MELA-AU 2 128103295 128103295 single base substitution G A intron_variant MELA-AU 2 128103295 128103295 single base substitution G A upstream_gene_variant MELA-AU 2 128103561 128103561 single base substitution G A intron_variant MELA-AU 2 128103561 128103561 single base substitution G A upstream_gene_variant MELA-AU 2 128104104 128104104 single base substitution C T intron_variant MELA-AU 2 128104104 128104104 single base substitution C T upstream_gene_variant MELA-AU 2 128106357 128106357 single base substitution G A intron_variant MELA-AU 2 128107381 128107381 single base substitution G A intron_variant MELA-AU 2 128107437 128107437 single base substitution G A intron_variant MELA-AU 2 128107825 128107825 single base substitution A G intron_variant MELA-AU 2 128109249 128109249 single base substitution T A intron_variant MELA-AU 2 128110546 128110546 single base substitution G A intron_variant MELA-AU 2 128111648 128111648 single base substitution C T intron_variant MELA-AU 2 128112324 128112324 single base substitution G A intron_variant MELA-AU 2 128112522 128112522 single base substitution G A intron_variant MELA-AU 2 128113316 128113316 single base substitution T C intron_variant MELA-AU 2 128113885 128113885 single base substitution G A intron_variant MELA-AU 2 128114447 128114447 single base substitution G A intron_variant MELA-AU 2 128114584 128114584 single base substitution G A intron_variant MELA-AU 2 128114765 128114765 single base substitution G A intron_variant MELA-AU 2 128115134 128115134 single base substitution A G intron_variant MELA-AU 2 128115374 128115374 deletion of <=200bp A - intron_variant MELA-AU 2 128115419 128115419 single base substitution G A intron_variant MELA-AU 2 128115706 128115706 single base substitution A T intron_variant MELA-AU 2 128115812 128115812 single base substitution G A intron_variant MELA-AU 2 128116146 128116146 single base substitution G A intron_variant MELA-AU 2 128117489 128117489 single base substitution C T intron_variant MELA-AU 2 128117753 128117753 single base substitution T C intron_variant MELA-AU 2 128117799 128117799 single base substitution G A intron_variant MELA-AU 2 128118857 128118857 single base substitution C T intron_variant MELA-AU 2 128119284 128119284 single base substitution A T intron_variant MELA-AU 2 128119675 128119676 deletion of <=200bp TC - intron_variant MELA-AU 2 128119839 128119839 single base substitution T G intron_variant MELA-AU 2 128120026 128120026 single base substitution C T intron_variant MELA-AU 2 128120047 128120047 single base substitution G A intron_variant MELA-AU 2 128121263 128121263 single base substitution G A intron_variant MELA-AU 2 128122199 128122199 single base substitution G A intron_variant MELA-AU 2 128122617 128122617 single base substitution C A intron_variant MELA-AU 2 128123129 128123129 single base substitution G C intron_variant MELA-AU 2 128123872 128123872 single base substitution C T intron_variant MELA-AU 2 128124320 128124320 single base substitution A C intron_variant MELA-AU 2 128126764 128126764 single base substitution G A intron_variant MELA-AU 2 128127181 128127181 single base substitution G A intron_variant MELA-AU 2 128127475 128127475 single base substitution G T intron_variant MELA-AU 2 128127518 128127519 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 128127908 128127908 single base substitution T C intron_variant MELA-AU 2 128128186 128128186 deletion of <=200bp A - intron_variant MELA-AU 2 128128394 128128394 single base substitution G A intron_variant MELA-AU 2 128128466 128128466 single base substitution G A intron_variant MELA-AU 2 128129176 128129176 single base substitution G A intron_variant MELA-AU 2 128129739 128129739 single base substitution G A intron_variant MELA-AU 2 128129984 128129984 single base substitution G A intron_variant MELA-AU 2 128130465 128130465 single base substitution G A intron_variant MELA-AU 2 128130654 128130654 single base substitution C A intron_variant MELA-AU 2 128130900 128130900 single base substitution G A intron_variant MELA-AU 2 128130903 128130903 single base substitution A G intron_variant MELA-AU 2 128131680 128131680 single base substitution C T intron_variant MELA-AU 2 128132991 128132991 insertion of <=200bp - T intron_variant MELA-AU 2 128132998 128132998 single base substitution T A intron_variant MELA-AU 2 128134439 128134439 single base substitution C G intron_variant MELA-AU 2 128136192 128136192 single base substitution T C intron_variant MELA-AU 2 128136232 128136232 single base substitution G A intron_variant MELA-AU 2 128137233 128137233 single base substitution G A intron_variant MELA-AU 2 128137918 128137918 single base substitution G A intron_variant MELA-AU 2 128138193 128138193 single base substitution A G intron_variant MELA-AU 2 128138987 128138987 single base substitution T A intron_variant MELA-AU 2 128139422 128139422 single base substitution G A intron_variant MELA-AU 2 128140416 128140416 single base substitution G A intron_variant MELA-AU 2 128142493 128142493 single base substitution G A intron_variant MELA-AU 2 128144037 128144037 single base substitution C T intron_variant MELA-AU 2 128145649 128145649 single base substitution C T intron_variant MELA-AU 2 128145649 128145649 single base substitution C T upstream_gene_variant MELA-AU 2 128145887 128145887 single base substitution G A 5_prime_UTR_variant MELA-AU 2 128145887 128145887 single base substitution G A upstream_gene_variant MELA-AU 2 128147325 128147325 single base substitution C T upstream_gene_variant MELA-AU 2 128149248 128149248 single base substitution T C upstream_gene_variant MELA-AU 2 128149483 128149483 single base substitution C T upstream_gene_variant MELA-AU 2 128149537 128149537 single base substitution G A upstream_gene_variant MELA-AU 2 128149612 128149612 single base substitution G T upstream_gene_variant MELA-AU 2 128149783 128149783 single base substitution C T upstream_gene_variant MELA-AU 2 128149935 128149935 single base substitution C T upstream_gene_variant MELA-AU 2 128149959 128149959 single base substitution C T upstream_gene_variant MELA-AU 2 128150428 128150428 single base substitution C T upstream_gene_variant MELA-AU 2 128150918 128150918 single base substitution C T upstream_gene_variant ORCA-IN 2 128057879 128057879 single base substitution C G 3_prime_UTR_variant ORCA-IN 2 128061290 128061290 single base substitution C G 3_prime_UTR_variant ORCA-IN 2 128061290 128061290 single base substitution C G downstream_gene_variant ORCA-IN 2 128075494 128075494 single base substitution G A intron_variant ORCA-IN 2 128092182 128092182 single base substitution C T downstream_gene_variant ORCA-IN 2 128092182 128092182 single base substitution C T intron_variant ORCA-IN 2 128092258 128092258 single base substitution G A downstream_gene_variant ORCA-IN 2 128092258 128092258 single base substitution G A intron_variant ORCA-IN 2 128118834 128118834 single base substitution G C intron_variant ORCA-IN 2 128125003 128125003 single base substitution C G intron_variant ORCA-IN 2 128126283 128126283 single base substitution C G intron_variant OV-AU 2 128071110 128071110 single base substitution A G intron_variant OV-AU 2 128091046 128091046 single base substitution T C downstream_gene_variant OV-AU 2 128091046 128091046 single base substitution T C intron_variant OV-AU 2 128094570 128094570 single base substitution T C downstream_gene_variant OV-AU 2 128094570 128094570 single base substitution T C intron_variant OV-AU 2 128100023 128100023 single base substitution G A intron_variant OV-AU 2 128112909 128112909 single base substitution G A intron_variant OV-AU 2 128115208 128115208 single base substitution G A intron_variant OV-AU 2 128116135 128116135 single base substitution T C intron_variant OV-AU 2 128120189 128120189 single base substitution C G intron_variant OV-AU 2 128122862 128122862 single base substitution T G intron_variant OV-AU 2 128127693 128127693 single base substitution T G intron_variant OV-AU 2 128130078 128130078 single base substitution G A intron_variant OV-AU 2 128145083 128145083 single base substitution C G 5_prime_UTR_variant OV-AU 2 128145083 128145083 single base substitution C G intron_variant OV-AU 2 128149553 128149553 single base substitution A T upstream_gene_variant OV-US 2 128072395 128072395 single base substitution G C missense_variant T464S 1391C>G PACA-AU 2 128051996 128051997 deletion of <=200bp GA - downstream_gene_variant PACA-AU 2 128052945 128052945 single base substitution A C downstream_gene_variant PACA-AU 2 128055061 128055061 single base substitution C G downstream_gene_variant PACA-AU 2 128060092 128060092 single base substitution A T 3_prime_UTR_variant PACA-AU 2 128060092 128060092 single base substitution A T downstream_gene_variant PACA-AU 2 128065164 128065164 single base substitution A C missense_variant H617Q 1851T>G PACA-AU 2 128075503 128075503 single base substitution C G intron_variant PACA-AU 2 128077244 128077244 single base substitution A G intron_variant PACA-AU 2 128077643 128077643 single base substitution T G intron_variant PACA-AU 2 128078806 128078806 single base substitution A G intron_variant PACA-AU 2 128082742 128082742 single base substitution G T intron_variant PACA-AU 2 128083442 128083442 deletion of <=200bp A - intron_variant PACA-AU 2 128085569 128085569 single base substitution A G intron_variant PACA-AU 2 128087241 128087241 single base substitution T A intron_variant PACA-AU 2 128096010 128096010 single base substitution T C intron_variant PACA-AU 2 128101189 128101189 single base substitution A C intron_variant PACA-AU 2 128101189 128101189 single base substitution A C upstream_gene_variant PACA-AU 2 128108443 128108443 single base substitution C T intron_variant PACA-AU 2 128108871 128108871 single base substitution A C intron_variant PACA-AU 2 128112252 128112252 single base substitution T G intron_variant PACA-AU 2 128119756 128119756 single base substitution A T intron_variant PACA-AU 2 128126197 128126197 deletion of <=200bp A - intron_variant PACA-AU 2 128130481 128130481 single base substitution T A intron_variant PACA-AU 2 128131101 128131101 single base substitution G T intron_variant PACA-AU 2 128132993 128132994 deletion of <=200bp TA - intron_variant PACA-AU 2 128136323 128136323 deletion of <=200bp T - intron_variant PACA-AU 2 128138035 128138035 single base substitution G A intron_variant PACA-AU 2 128139341 128139341 single base substitution G A intron_variant PACA-AU 2 128141697 128141697 single base substitution T G intron_variant PACA-AU 2 128144980 128144980 single base substitution A G intron_variant PACA-CA 2 128051323 128051323 single base substitution C A downstream_gene_variant PACA-CA 2 128054499 128054499 deletion of <=200bp T - downstream_gene_variant PACA-CA 2 128057348 128057348 single base substitution C T 3_prime_UTR_variant PACA-CA 2 128057520 128057520 insertion of <=200bp - A 3_prime_UTR_variant PACA-CA 2 128058852 128058852 single base substitution C T 3_prime_UTR_variant PACA-CA 2 128074334 128074334 single base substitution C T intron_variant PACA-CA 2 128077249 128077249 single base substitution A G intron_variant PACA-CA 2 128081334 128081334 single base substitution G A intron_variant PACA-CA 2 128082124 128082124 single base substitution C A intron_variant PACA-CA 2 128082491 128082491 single base substitution C T intron_variant PACA-CA 2 128085441 128085441 single base substitution G A intron_variant PACA-CA 2 128085979 128085979 single base substitution T C intron_variant PACA-CA 2 128088124 128088124 single base substitution C T intron_variant PACA-CA 2 128089078 128089078 single base substitution T C intron_variant PACA-CA 2 128090618 128090618 single base substitution G T downstream_gene_variant PACA-CA 2 128090618 128090618 single base substitution G T intron_variant PACA-CA 2 128092980 128092980 single base substitution G C downstream_gene_variant PACA-CA 2 128092980 128092980 single base substitution G C intron_variant PACA-CA 2 128100086 128100086 single base substitution T A intron_variant PACA-CA 2 128100985 128100985 single base substitution A G intron_variant PACA-CA 2 128100985 128100985 single base substitution A G upstream_gene_variant PACA-CA 2 128101982 128101982 insertion of <=200bp - G intron_variant PACA-CA 2 128101982 128101982 insertion of <=200bp - G upstream_gene_variant PACA-CA 2 128107815 128107815 single base substitution C T intron_variant PACA-CA 2 128108331 128108331 deletion of <=200bp A - intron_variant PACA-CA 2 128112380 128112380 single base substitution G C intron_variant PACA-CA 2 128112683 128112683 single base substitution G A intron_variant PACA-CA 2 128119155 128119155 single base substitution A G intron_variant PACA-CA 2 128120153 128120153 deletion of <=200bp A - intron_variant PACA-CA 2 128126937 128126937 single base substitution G A intron_variant PACA-CA 2 128132994 128132994 single base substitution A T intron_variant PACA-CA 2 128136321 128136321 single base substitution G A intron_variant PACA-CA 2 128137176 128137176 single base substitution C T intron_variant PACA-CA 2 128137184 128137184 single base substitution G T intron_variant PACA-CA 2 128138015 128138015 single base substitution T A intron_variant PACA-CA 2 128142506 128142506 single base substitution G A intron_variant PACA-CA 2 128142614 128142614 single base substitution A C intron_variant PACA-CA 2 128143181 128143181 single base substitution A G intron_variant PACA-CA 2 128145464 128145464 single base substitution A G 5_prime_UTR_variant PACA-CA 2 128145464 128145464 single base substitution A G intron_variant PACA-CA 2 128146378 128146378 single base substitution G C upstream_gene_variant PACA-CA 2 128149998 128149998 single base substitution T G upstream_gene_variant PACA-CA 2 128150203 128150203 single base substitution C A upstream_gene_variant PAEN-AU 2 128069886 128069886 single base substitution G A intron_variant PAEN-AU 2 128088689 128088689 single base substitution A G intron_variant PAEN-AU 2 128117582 128117582 single base substitution T C intron_variant PAEN-AU 2 128145488 128145488 single base substitution A C 5_prime_UTR_variant PAEN-AU 2 128145488 128145488 single base substitution A C intron_variant PAEN-IT 2 128075638 128075638 single base substitution T G intron_variant PBCA-DE 2 128051996 128051997 deletion of <=200bp GA - downstream_gene_variant PBCA-DE 2 128074994 128074994 single base substitution A T intron_variant PBCA-DE 2 128085215 128085215 single base substitution C T intron_variant PBCA-DE 2 128087237 128087237 single base substitution C A intron_variant PBCA-DE 2 128107540 128107540 single base substitution T C intron_variant PBCA-DE 2 128109863 128109867 deletion of <=200bp AAAAG - intron_variant PBCA-DE 2 128126778 128126778 single base substitution G C intron_variant PBCA-DE 2 128132991 128132991 insertion of <=200bp - T intron_variant PBCA-DE 2 128134467 128134467 single base substitution C T intron_variant PBCA-DE 2 128141790 128141791 deletion of <=200bp AT - intron_variant PBCA-DE 2 128142573 128142573 single base substitution A C intron_variant PBCA-DE 2 128147345 128147345 single base substitution A G upstream_gene_variant PRAD-CA 2 128060917 128060917 single base substitution G A 3_prime_UTR_variant PRAD-CA 2 128060917 128060917 single base substitution G A downstream_gene_variant PRAD-CA 2 128075639 128075639 single base substitution G T intron_variant PRAD-CA 2 128128827 128128827 single base substitution C T intron_variant PRAD-CA 2 128142742 128142742 single base substitution G C intron_variant PRAD-CA 2 128144304 128144304 single base substitution G A intron_variant PRAD-UK 2 128051996 128051997 deletion of <=200bp GA - downstream_gene_variant PRAD-UK 2 128062502 128062502 single base substitution G C 3_prime_UTR_variant PRAD-UK 2 128062502 128062502 single base substitution G C downstream_gene_variant PRAD-UK 2 128062657 128062657 insertion of <=200bp - A 3_prime_UTR_variant PRAD-UK 2 128062657 128062657 insertion of <=200bp - A downstream_gene_variant PRAD-UK 2 128062666 128062666 insertion of <=200bp - A 3_prime_UTR_variant PRAD-UK 2 128062666 128062666 insertion of <=200bp - A downstream_gene_variant PRAD-UK 2 128094487 128094487 single base substitution C T downstream_gene_variant PRAD-UK 2 128094487 128094487 single base substitution C T intron_variant PRAD-UK 2 128108331 128108331 insertion of <=200bp - A intron_variant PRAD-UK 2 128108339 128108339 insertion of <=200bp - A intron_variant PRAD-UK 2 128108741 128108741 single base substitution T C intron_variant PRAD-UK 2 128127337 128127337 single base substitution G A intron_variant PRAD-UK 2 128129112 128129112 single base substitution C G intron_variant PRAD-UK 2 128141907 128141907 single base substitution G A intron_variant READ-US 2 128087551 128087551 single base substitution C A missense_variant D138Y 412G>T RECA-EU 2 128060295 128060295 single base substitution G T 3_prime_UTR_variant RECA-EU 2 128060295 128060295 single base substitution G T downstream_gene_variant RECA-EU 2 128065974 128065974 single base substitution G T intron_variant RECA-EU 2 128069223 128069223 single base substitution C T intron_variant RECA-EU 2 128070164 128070164 single base substitution G C intron_variant RECA-EU 2 128109864 128109864 single base substitution A C intron_variant RECA-EU 2 128109932 128109932 single base substitution C T intron_variant RECA-EU 2 128118355 128118355 single base substitution T A intron_variant RECA-EU 2 128118803 128118803 single base substitution C A intron_variant RECA-EU 2 128137598 128137598 single base substitution C A intron_variant RECA-EU 2 128150764 128150764 single base substitution G A upstream_gene_variant SKCA-BR 2 128053401 128053401 single base substitution A G downstream_gene_variant SKCA-BR 2 128055878 128055878 single base substitution G A downstream_gene_variant SKCA-BR 2 128063506 128063507 deletion of <=200bp CT - 3_prime_UTR_variant SKCA-BR 2 128063506 128063507 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 2 128063945 128063945 single base substitution T C 3_prime_UTR_variant SKCA-BR 2 128063945 128063945 single base substitution T C downstream_gene_variant SKCA-BR 2 128074088 128074088 single base substitution G A intron_variant SKCA-BR 2 128074623 128074623 insertion of <=200bp - ATTTT intron_variant SKCA-BR 2 128076010 128076010 single base substitution G A intron_variant SKCA-BR 2 128076810 128076811 deletion of <=200bp AG - intron_variant SKCA-BR 2 128078124 128078124 single base substitution G A intron_variant SKCA-BR 2 128083374 128083374 single base substitution G A missense_variant P203S 607C>T SKCA-BR 2 128084111 128084111 single base substitution G A intron_variant SKCA-BR 2 128085256 128085256 single base substitution A G intron_variant SKCA-BR 2 128095005 128095005 single base substitution G A downstream_gene_variant SKCA-BR 2 128095005 128095005 single base substitution G A intron_variant SKCA-BR 2 128097519 128097519 single base substitution G A intron_variant SKCA-BR 2 128099106 128099106 single base substitution G T intron_variant SKCA-BR 2 128099964 128099964 insertion of <=200bp - GGGGTGTGT intron_variant SKCA-BR 2 128099966 128099966 single base substitution T G intron_variant SKCA-BR 2 128103627 128103627 single base substitution G A intron_variant SKCA-BR 2 128103627 128103627 single base substitution G A upstream_gene_variant SKCA-BR 2 128103986 128103987 deletion of <=200bp TA - intron_variant SKCA-BR 2 128103986 128103987 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 2 128105740 128105740 single base substitution G A intron_variant SKCA-BR 2 128105740 128105740 single base substitution G A upstream_gene_variant SKCA-BR 2 128107176 128107176 single base substitution C T intron_variant SKCA-BR 2 128107300 128107300 single base substitution C T intron_variant SKCA-BR 2 128108674 128108674 single base substitution T G intron_variant SKCA-BR 2 128111264 128111264 single base substitution C T intron_variant SKCA-BR 2 128111815 128111815 insertion of <=200bp - TA intron_variant SKCA-BR 2 128116126 128116126 single base substitution T A intron_variant SKCA-BR 2 128122619 128122619 insertion of <=200bp - GGAGGCAGAGGTTGCAAT intron_variant SKCA-BR 2 128123987 128123987 single base substitution C A intron_variant SKCA-BR 2 128125302 128125302 single base substitution G A intron_variant SKCA-BR 2 128126427 128126427 single base substitution A C intron_variant SKCA-BR 2 128128455 128128455 single base substitution A T intron_variant SKCA-BR 2 128131853 128131853 single base substitution A G intron_variant SKCA-BR 2 128132990 128132990 single base substitution A T intron_variant SKCA-BR 2 128133907 128133907 single base substitution G A intron_variant SKCA-BR 2 128136551 128136551 insertion of <=200bp - TTTG intron_variant SKCA-BR 2 128136557 128136558 deletion of <=200bp GT - intron_variant SKCA-BR 2 128136831 128136831 single base substitution C T intron_variant SKCA-BR 2 128138323 128138323 single base substitution T C intron_variant SKCA-BR 2 128148839 128148839 single base substitution C T upstream_gene_variant SKCA-BR 2 128148944 128148944 single base substitution G A upstream_gene_variant SKCM-US 2 128066208 128066208 single base substitution G A synonymous_variant S529S 1587C>T SKCM-US 2 128066222 128066222 single base substitution G A missense_variant P525S 1573C>T SKCM-US 2 128079620 128079620 single base substitution A C splice_donor_variant SKCM-US 2 128079655 128079655 single base substitution A C missense_variant L338V 1012T>G SKCM-US 2 128079751 128079751 single base substitution G A missense_variant H306Y 916C>T SKCM-US 2 128081558 128081558 single base substitution G A missense_variant P253L 758C>T STAD-US 2 128065338 128065338 single base substitution C T synonymous_variant P559P 1677G>A STAD-US 2 128072426 128072426 single base substitution C T missense_variant A454T 1360G>A STAD-US 2 128079649 128079649 single base substitution C T missense_variant V340I 1018G>A STAD-US 2 128079820 128079820 single base substitution T G missense_variant T283P 847A>C STAD-US 2 128083333 128083333 single base substitution A G synonymous_variant S216S 648T>C STAD-US 2 128096511 128096511 deletion of <=200bp T - frameshift_variant K40 UCEC-US 2 128065305 128065305 single base substitution G T synonymous_variant I570I 1710C>A UCEC-US 2 128066248 128066248 deletion of <=200bp G - frameshift_variant T516 UCEC-US 2 128066306 128066306 single base substitution C T missense_variant V497I 1489G>A UCEC-US 2 128074538 128074538 single base substitution A G intron_variant UCEC-US 2 128075281 128075281 single base substitution C T missense_variant R417Q 1250G>A UCEC-US 2 128075798 128075798 single base substitution C A stop_gained E381* 1141G>T UCEC-US 2 128075887 128075887 single base substitution C T missense_variant R351Q 1052G>A UCEC-US 2 128079624 128079624 single base substitution C T missense_variant R348H 1043G>A UCEC-US 2 128079684 128079684 single base substitution C A missense_variant R328I 983G>T UCEC-US 2 128081548 128081548 single base substitution C A missense_variant E256D 768G>T UCEC-US 2 128095323 128095323 single base substitution C A downstream_gene_variant UCEC-US 2 128095323 128095323 single base substitution C A missense_variant G52V 155G>T UCEC-US 2 128096544 128096544 single base substitution T G missense_variant E29D 87A>C UCEC-US 2 128096605 128096605 single base substitution G A missense_variant S9L 26C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 12M COSM5577575 c.792T>G p.Y264* Substitution - Nonsense 2:127323948-127323948 - T3724 COSM3042296 c.120delA p.K40fs*29 Deletion - Frameshift 2:127338935-127338935 - TCGA-B5-A0JY-01 COSM1006201 c.155G>T p.G52V Substitution - Missense 2:127337747-127337747 - TCGA-IR-A3LH-01 COSM4832415 c.286C>T p.Q96* Substitution - Nonsense 2:127330484-127330484 - DM8 COSM48527 c.853C>T p.P285S Substitution - Missense 2:127322238-127322238 - TCGA-AP-A059-01 COSM1006205 c.26C>T p.S9L Substitution - Missense 2:127339029-127339029 - Gp5D COSM3042296 c.120delA p.K40fs*29 Deletion - Frameshift 2:127338935-127338935 - TCGA-A2-A0T0-01 COSM4815524 c.501A>T p.P167P Substitution - coding silent 2:127326783-127326783 - TCGA-D8-A1J8-01 COSM3836750 c.1210G>A p.E404K Substitution - Missense 2:127317745-127317745 - TCGA-BT-A2LB-01 COSM3797929 c.238A>G p.M80V Substitution - Missense 2:127335896-127335896 - Gp5D COSM3042295 c.120delA p.K40fs*29 Deletion - Frameshift 2:127338935-127338935 - DM28 COSM5609298 c.607C>T p.P203S Substitution - Missense 2:127325798-127325798 - 65 COSM5010861 c.1546A>G p.T516A Substitution - Missense 2:127308673-127308673 - CSCC-30-T COSM4471658 c.1733C>A p.T578K Substitution - Missense 2:127307706-127307706 - ESO-137 COSM1257275 c.1488C>T p.N496N Substitution - coding silent 2:127308731-127308731 - RK280_C01 COSM4944383 c.480A>G p.R160R Substitution - coding silent 2:127326804-127326804 - SS6003125 COSM3414303 c.1471C>T p.R491* Substitution - Nonsense 2:127308748-127308748 - TCGA-D1-A16F-01 COSM1006189 c.1489G>A p.V497I Substitution - Missense 2:127308730-127308730 - TCGA-B2-5641-01 COSM475868 c.1472G>T p.R491L Substitution - Missense 2:127308747-127308747 - PTC-7C COSM4133046 c.1608A>T p.E536D Substitution - Missense 2:127308611-127308611 - 041T COSM1729237 c.165-2A>T p.? Unknown 2:127335971-127335971 - sysucc-1317T COSM5449478 c.1706C>T p.A569V Substitution - Missense 2:127307733-127307733 - TCGA-AM-5821-01 COSM3757612 c.861T>C p.A287A Substitution - coding silent 2:127322230-127322230 - TCGA-29-1762-01 COSM1325942 c.1016C>A p.T339N Substitution - Missense 2:127322075-127322075 - TCGA-CF-A1HR-01 COSM418589 c.1478C>G p.S493* Substitution - Nonsense 2:127308741-127308741 - RK147_C01 COSM1631268 c.839-9A>T p.? Unknown 2:127322261-127322261 - TCGA-AP-A0LM-01 COSM1006202 c.87A>C p.E29D Substitution - Missense 2:127338968-127338968 - CSCC-11-T COSM4507814 c.757C>T p.P253S Substitution - Missense 2:127323983-127323983 - tumor_4120193 COSM3953000 c.535C>T p.R179W Substitution - Missense 2:127326749-127326749 - 16668 COSM48935 c.112_113insA p.P38fs*6 Insertion - Frameshift 2:127338942-127338943 - CHC892T COSM4961259 c.941G>A p.S314N Substitution - Missense 2:127322150-127322150 - TCGA-AC-A23H-01 COSM5203299 c.1288delG p.E430fs*20 Deletion - Frameshift 2:127317667-127317667 - 17766 COSM48527 c.853C>T p.P285S Substitution - Missense 2:127322238-127322238 - TCGA-CC-5261-01 COSM203500 c.1141G>T p.E381* Substitution - Nonsense 2:127318222-127318222 - 8057543 COSM3390911 c.1851T>G p.H617Q Substitution - Missense 2:127307588-127307588 - HX26T COSM3708871 c.468T>G p.G156G Substitution - coding silent 2:127326816-127326816 - TCGA-13-1509-01 COSM75356 c.1391C>G p.T464S Substitution - Missense 2:127314819-127314819 - T3024 COSM4700325 c.885A>G p.L295L Substitution - coding silent 2:127322206-127322206 - PD7250a COSM5775272 c.108A>G p.S36S Substitution - coding silent 2:127338947-127338947 - TCGA-G2-A2EL-01 COSM1305611 c.992G>A p.S331N Substitution - Missense 2:127322099-127322099 - ccRCC-40 COSM1665942 c.379-1G>T p.? Unknown 2:127330009-127330009 - PD1520a COSM20412 c.500delC p.P167fs*40 Deletion - Frameshift 2:127326784-127326784 - ATL007 COSM5707756 c.1258C>G p.Q420E Substitution - Missense 2:127317697-127317697 - BCM269T COSM4951601 c.1139G>T p.R380I Substitution - Missense 2:127318224-127318224 - TCGA-AX-A05Z-01 COSM1006185 c.1710C>A p.I570I Substitution - coding silent 2:127307729-127307729 - TCGA-AP-A0LM-01 COSM1006203 c.87A>C p.E29D Substitution - Missense 2:127338968-127338968 - TCGA-CA-6717-01 COSM1399227 c.219A>C p.K73N Substitution - Missense 2:127335915-127335915 - DM28 COSM5609297 c.607C>T p.P203S Substitution - Missense 2:127325798-127325798 - TCGA-AX-A05Z-01 COSM1006184 c.1710C>A p.I570I Substitution - coding silent 2:127307729-127307729 - TCGA-D8-A1J8-01 COSM3836751 c.1210G>A p.E404K Substitution - Missense 2:127317745-127317745 - LN229 COSM3042270 c.830A>G p.Y277C Substitution - Missense 2:127323910-127323910 - T3724 COSM3042295 c.120delA p.K40fs*29 Deletion - Frameshift 2:127338935-127338935 - T3024 COSM4700326 c.885A>G p.L295L Substitution - coding silent 2:127322206-127322206 - CHC892T COSM4961260 c.941G>A p.S314N Substitution - Missense 2:127322150-127322150 - RK147_C01 COSM1631267 c.839-9A>T p.? Unknown 2:127322261-127322261 - RK123_C01 COSM3743997 c.271A>G p.I91V Substitution - Missense 2:127330499-127330499 - 18 COSM5449477 c.1706C>T p.A569V Substitution - Missense 2:127307733-127307733 - Gp2D COSM3042295 c.120delA p.K40fs*29 Deletion - Frameshift 2:127338935-127338935 - 12-P4072 COSM4582626 c.215C>T p.A72V Substitution - Missense 2:127335919-127335919 - LN229 COSM3042269 c.830A>G p.Y277C Substitution - Missense 2:127323910-127323910 - ACC-3 COSM4967541 c.1697C>A p.A566E Substitution - Missense 2:127307742-127307742 - TCGA-GN-A266-06 COSM3566085 c.1045+2T>G p.? Unknown 2:127322044-127322044 - TCGA-D1-A17Q-01 COSM1006199 c.768G>T p.E256D Substitution - Missense 2:127323972-127323972 - TCGA-AX-A0J0-01 COSM203500 c.1141G>T p.E381* Substitution - Nonsense 2:127318222-127318222 - BCM269T COSM4951602 c.1139G>T p.R380I Substitution - Missense 2:127318224-127318224 - TCGA-D1-A103-01 COSM1006195 c.1043G>A p.R348H Substitution - Missense 2:127322048-127322048 - TCGA-BR-4280-01 COSM3042239 c.1677G>A p.P559P Substitution - coding silent 2:127307762-127307762 - YUTUR COSM5394260 c.1299T>C p.L433L Substitution - coding silent 2:127317656-127317656 - TCGA-D1-A16F-01 COSM1006188 c.1489G>A p.V497I Substitution - Missense 2:127308730-127308730 - BD232T COSM5501495 c.31A>G p.M11V Substitution - Missense 2:127339024-127339024 - TCGA-AD-6964-01 COSM1399217 c.1018G>A p.V340I Substitution - Missense 2:127322073-127322073 - PTC-7C COSM4133047 c.1608A>T p.E536D Substitution - Missense 2:127308611-127308611 - 446 COSM4434983 c.1458C>T p.G486G Substitution - coding silent 2:127308761-127308761 - TCGA-HU-A4GU-01 COSM1399218 c.1018G>A p.V340I Substitution - Missense 2:127322073-127322073 - TARGET-30-PARSBI COSM1286082 c.1360G>A p.A454T Substitution - Missense 2:127314850-127314850 - TCGA-AM-5821-01 COSM3757613 c.861T>C p.A287A Substitution - coding silent 2:127322230-127322230 - TCGA-BR-8680-01 COSM4084678 c.847A>C p.T283P Substitution - Missense 2:127322244-127322244 - TCGA-A6-6140-01 COSM3757612 c.861T>C p.A287A Substitution - coding silent 2:127322230-127322230 - DM11 COSM5609296 c.1194G>A p.K398K Substitution - coding silent 2:127318169-127318169 - SC_9030 COSM5571495 c.1411G>A p.V471I Substitution - Missense 2:127314799-127314799 - TCGA-D1-A103-01 COSM1006196 c.1043G>A p.R348H Substitution - Missense 2:127322048-127322048 - TCGA-BT-A2LB-01 COSM3797930 c.238A>G p.M80V Substitution - Missense 2:127335896-127335896 - CSCC-30-T COSM4471659 c.1733C>A p.T578K Substitution - Missense 2:127307706-127307706 - SS6003125 COSM3414302 c.1471C>T p.R491* Substitution - Nonsense 2:127308748-127308748 - TCGA-HU-A4GU-01 COSM1399217 c.1018G>A p.V340I Substitution - Missense 2:127322073-127322073 - TCGA-AP-A0LM-01 COSM203500 c.1141G>T p.E381* Substitution - Nonsense 2:127318222-127318222 - ATL007 COSM5707755 c.1258C>G p.Q420E Substitution - Missense 2:127317697-127317697 - RK200_C01 COSM3743994 c.332A>T p.H111L Substitution - Missense 2:127330438-127330438 - TCGA-BR-8680-01 COSM4084677 c.847A>C p.T283P Substitution - Missense 2:127322244-127322244 - CLL104 COSM1291294 c.535C>A p.R179R Substitution - coding silent 2:127326749-127326749 - 65 COSM5010860 c.1546A>G p.T516A Substitution - Missense 2:127308673-127308673 - PD1362a COSM12872 c.336G>A p.M112I Substitution - Missense TCGA-AP-A0LM-01 COSM1006193 c.1052G>A p.R351Q Substitution - Missense 2:127318311-127318311 - PD1520a COSM20412 c.500delC p.P167fs*40 Deletion - Frameshift 2:127326784-127326784 - RK200_C01 COSM3743995 c.332A>T p.H111L Substitution - Missense 2:127330438-127330438 - TCGA-EE-A29M-06 COSM3566083 c.1573C>T p.P525S Substitution - Missense 2:127308646-127308646 - TCGA-F5-6814-01 COSM3425164 c.412G>T p.D138Y Substitution - Missense 2:127329975-127329975 - TCGA-EE-A20H-06 COSM3566086 c.1012T>G p.L338V Substitution - Missense 2:127322079-127322079 - CSCC-11-T COSM4507815 c.757C>T p.P253S Substitution - Missense 2:127323983-127323983 - RK123_C01 COSM3743996 c.271A>G p.I91V Substitution - Missense 2:127330499-127330499 - tumor_4120193 COSM3952999 c.535C>T p.R179W Substitution - Missense 2:127326749-127326749 - 446 COSM4434984 c.1458C>T p.G486G Substitution - coding silent 2:127308761-127308761 - CSCC-44-T COSM4457736 c.1057C>T p.P353S Substitution - Missense 2:127318306-127318306 - PD7250a COSM5775273 c.108A>G p.S36S Substitution - coding silent 2:127338947-127338947 - TCGA-D5-6537-01 COSM1399224 c.298G>T p.D100Y Substitution - Missense 2:127330472-127330472 - ESO-137 COSM1257274 c.1488C>T p.N496N Substitution - coding silent 2:127308731-127308731 - PD11340a COSM5800655 c.323G>A p.R108H Substitution - Missense 2:127330447-127330447 - TCGA-EE-A20H-06 COSM3566087 c.1012T>G p.L338V Substitution - Missense 2:127322079-127322079 - ACC-3 COSM4967540 c.1697C>A p.A566E Substitution - Missense 2:127307742-127307742 - 115 COSM5015950 c.673delG p.D225fs*75 Deletion - Frameshift 2:127325732-127325732 - TCGA-CC-5261-01 COSM1006192 c.1141G>T p.E381* Substitution - Nonsense 2:127318222-127318222 - TCGA-AD-6964-01 COSM1399218 c.1018G>A p.V340I Substitution - Missense 2:127322073-127322073 - CHC892T COSM4961259 c.941G>A p.S314N Substitution - Missense 2:127322150-127322150 - TCGA-F5-6702-01 COSM5080051 c.698G>A p.R233Q Substitution - Missense 2:127324221-127324221 - TCGA-IR-A3LH-01 COSM4832414 c.286C>T p.Q96* Substitution - Nonsense 2:127330484-127330484 - TCGA-AC-A23H-01 COSM5203298 c.1288delG p.E430fs*20 Deletion - Frameshift 2:127317667-127317667 - PD1487a COSM13336 c.1701G>A p.M567I Substitution - Missense 2:127307738-127307738 - 12-P4072 COSM4582627 c.215C>T p.A72V Substitution - Missense 2:127335919-127335919 - CSCC-44-T COSM4457737 c.1057C>T p.P353S Substitution - Missense 2:127318306-127318306 - TCGA-AP-A0LM-01 COSM1006192 c.1141G>T p.E381* Substitution - Nonsense 2:127318222-127318222 - DM11 COSM5609295 c.1194G>A p.K398K Substitution - coding silent 2:127318169-127318169 - TCGA-AP-A056-01 COSM1006198 c.983G>T p.R328I Substitution - Missense 2:127322108-127322108 - TCGA-B5-A0K9-01 COSM1006186 c.1547delC p.T516fs*3 Deletion - Frameshift 2:127308672-127308672 - TCGA-BR-7703-01 COSM4084679 c.648T>C p.S216S Substitution - coding silent 2:127325757-127325757 - YUKAT COSM5394264 c.920C>T p.S307F Substitution - Missense 2:127322171-127322171 - TCGA-HU-A4G8-01 COSM1286082 c.1360G>A p.A454T Substitution - Missense 2:127314850-127314850 - DM55 COSM5609300 c.1537C>T p.L513F Substitution - Missense 2:127308682-127308682 - TCGA-B2-5641-01 COSM4857856 c.1472G>T p.R491L Substitution - Missense 2:127308747-127308747 - CHC892T COSM4961260 c.941G>A p.S314N Substitution - Missense 2:127322150-127322150 - HCT116 COSM3042248 c.1595T>C p.V532A Substitution - Missense 2:127308624-127308624 - TCGA-F4-6570-01 COSM1399219 c.704C>A p.P235H Substitution - Missense 2:127324215-127324215 - 18 COSM5449478 c.1706C>T p.A569V Substitution - Missense 2:127307733-127307733 - TCGA-D9-A149-06 COSM3566091 c.758C>T p.P253L Substitution - Missense 2:127323982-127323982 - TCGA-AX-A0J0-01 COSM1006192 c.1141G>T p.E381* Substitution - Nonsense 2:127318222-127318222 - BCM269T COSM4951601 c.1139G>T p.R380I Substitution - Missense 2:127318224-127318224 - TCGA-B5-A0JY-01 COSM1006200 c.155G>T p.G52V Substitution - Missense 2:127337747-127337747 - TCGA-AC-A23H-01 COSM3836749 c.1550G>T p.G517V Substitution - Missense 2:127308669-127308669 - TCGA-AZ-4615-01 COSM20412 c.500delC p.P167fs*40 Deletion - Frameshift 2:127326784-127326784 - TCGA-GN-A266-06 COSM3566084 c.1045+2T>G p.? Unknown 2:127322044-127322044 - EGC15 COSM5058043 c.1472G>A p.R491Q Substitution - Missense 2:127308747-127308747 - BCM269T COSM4951602 c.1139G>T p.R380I Substitution - Missense 2:127318224-127318224 - TCGA-CF-A1HR-01 COSM4812769 c.1478C>G p.S493* Substitution - Nonsense 2:127308741-127308741 - ESCC_72 COSM5634328 c.1443T>G p.H481Q Substitution - Missense 2:127314767-127314767 - 8057543 COSM3390910 c.1851T>G p.H617Q Substitution - Missense 2:127307588-127307588 - 115 COSM5015949 c.673delG p.D225fs*75 Deletion - Frameshift 2:127325732-127325732 - PD11340a COSM5800654 c.323G>A p.R108H Substitution - Missense 2:127330447-127330447 - TCGA-HU-A4G8-01 COSM1286083 c.1360G>A p.A454T Substitution - Missense 2:127314850-127314850 - PD1487a COSM13336 c.1701G>A p.M567I Substitution - Missense 2:127307738-127307738 - TCGA-EE-A29D-06 COSM3566089 c.916C>T p.H306Y Substitution - Missense 2:127322175-127322175 - 12M COSM5577574 c.792T>G p.Y264* Substitution - Nonsense 2:127323948-127323948 - DM55 COSM5609299 c.1537C>T p.L513F Substitution - Missense 2:127308682-127308682 - TCGA-G2-A2EL-01 COSM1305612 c.992G>A p.S331N Substitution - Missense 2:127322099-127322099 - SC_9030 COSM5571496 c.1411G>A p.V471I Substitution - Missense 2:127314799-127314799 - TCGA-25-2400-01 COSM71557 c.661G>C p.D221H Substitution - Missense 2:127325744-127325744 - 587368 COSM1214417 c.1355A>G p.Y452C Substitution - Missense 2:127314855-127314855 - DM18 COSM3042258 c.1173C>T p.P391P Substitution - coding silent 2:127318190-127318190 - TCGA-D1-A17Q-01 COSM261908 c.768G>T p.E256D Substitution - Missense 2:127323972-127323972 - CLL104 COSM1291293 c.535C>A p.R179R Substitution - coding silent 2:127326749-127326749 - TCGA-EJ-7125-01 COSM3673471 c.1017C>A p.T339T Substitution - coding silent 2:127322074-127322074 - BD111T COSM5520785 c.1459G>A p.A487T Substitution - Missense 2:127308760-127308760 - TCGA-F5-6814-01 COSM3425165 c.412G>T p.D138Y Substitution - Missense 2:127329975-127329975 - T3024 COSM1006191 c.1250G>A p.R417Q Substitution - Missense 2:127317705-127317705 - TCGA-D5-6537-01 COSM1399223 c.298G>T p.D100Y Substitution - Missense 2:127330472-127330472 - sysucc-1317T COSM5449477 c.1706C>T p.A569V Substitution - Missense 2:127307733-127307733 - PD1362a COSM12872 c.336G>A p.M112I Substitution - Missense TCGA-AP-A056-01 COSM1006191 c.1250G>A p.R417Q Substitution - Missense 2:127317705-127317705 - EGC15 COSM5058042 c.1472G>A p.R491Q Substitution - Missense 2:127308747-127308747 - TCGA-13-1509-01 COSM4946874 c.1391C>G p.T464S Substitution - Missense 2:127314819-127314819 - YUOMEGA COSM5394262 c.1017C>T p.T339T Substitution - coding silent 2:127322074-127322074 - TCGA-BR-4280-01 COSM3042240 c.1677G>A p.P559P Substitution - coding silent 2:127307762-127307762 - TCGA-AG-A002-01 COSM261908 c.768G>T p.E256D Substitution - Missense 2:127323972-127323972 - DM18 COSM3042257 c.1173C>T p.P391P Substitution - coding silent 2:127318190-127318190 - TARGET-30-PARSBI COSM1286083 c.1360G>A p.A454T Substitution - Missense 2:127314850-127314850 - TCGA-FS-A4FD-06 COSM3566081 c.1587C>T p.S529S Substitution - coding silent 2:127308632-127308632 - YUOMEGA COSM5394263 c.1017C>T p.T339T Substitution - coding silent 2:127322074-127322074 - TCGA-AZ-4615-01 COSM5139724 c.500delC p.P167fs*40 Deletion - Frameshift 2:127326784-127326784 - TCGA-AC-A23H-01 COSM3836748 c.1550G>T p.G517V Substitution - Missense 2:127308669-127308669 - TCGA-EE-A29D-06 COSM3566088 c.916C>T p.H306Y Substitution - Missense 2:127322175-127322175 - BD111T COSM5520786 c.1459G>A p.A487T Substitution - Missense 2:127308760-127308760 - TCGA-CA-6717-01 COSM1399226 c.219A>C p.K73N Substitution - Missense 2:127335915-127335915 - T3024 COSM1006190 c.1250G>A p.R417Q Substitution - Missense 2:127317705-127317705 - TCGA-29-1762-01 COSM1325943 c.1016C>A p.T339N Substitution - Missense 2:127322075-127322075 - RK280_C01 COSM4944384 c.480A>G p.R160R Substitution - coding silent 2:127326804-127326804 - TCGA-BR-7703-01 COSM4084680 c.648T>C p.S216S Substitution - coding silent 2:127325757-127325757 - DM8 COSM5609301 c.853C>T p.P285S Substitution - Missense 2:127322238-127322238 - HX26T COSM3708870 c.468T>G p.G156G Substitution - coding silent 2:127326816-127326816 - YUKAT COSM5394265 c.920C>T p.S307F Substitution - Missense 2:127322171-127322171 - TCGA-D9-A149-06 COSM3566090 c.758C>T p.P253L Substitution - Missense 2:127323982-127323982 - 041T COSM1729236 c.165-2A>T p.? Unknown 2:127335971-127335971 - TCGA-AP-A056-01 COSM1006190 c.1250G>A p.R417Q Substitution - Missense 2:127317705-127317705 - TCGA-A6-6140-01 COSM3757613 c.861T>C p.A287A Substitution - coding silent 2:127322230-127322230 - Gp2D COSM3042296 c.120delA p.K40fs*29 Deletion - Frameshift 2:127338935-127338935 - TCGA-A2-A0T0-01 COSM441079 c.501A>T p.P167P Substitution - coding silent 2:127326783-127326783 - TCGA-FS-A4FD-06 COSM3566080 c.1587C>T p.S529S Substitution - coding silent 2:127308632-127308632 - TCGA-B5-A0K9-01 COSM1006187 c.1547delC p.T516fs*3 Deletion - Frameshift 2:127308672-127308672 - ESCC_72 COSM5634327 c.1443T>G p.H481Q Substitution - Missense 2:127314767-127314767 - ccRCC-40 COSM1665943 c.379-1G>T p.? Unknown 2:127330009-127330009 - HCT116 COSM3042247 c.1595T>C p.V532A Substitution - Missense 2:127308624-127308624 - TCGA-AP-A0LM-01 COSM1006194 c.1052G>A p.R351Q Substitution - Missense 2:127318311-127318311 - TCGA-F4-6570-01 COSM1399220 c.704C>A p.P235H Substitution - Missense 2:127324215-127324215 - TCGA-AG-3891-01 COSM5068987 c.530T>G p.V177G Substitution - Missense 2:127326754-127326754 - TCGA-AP-A056-01 COSM1006197 c.983G>T p.R328I Substitution - Missense 2:127322108-127322108 - TCGA-AP-A059-01 COSM1006204 c.26C>T p.S9L Substitution - Missense 2:127339029-127339029 - BD232T COSM5501496 c.31A>G p.M11V Substitution - Missense 2:127339024-127339024 - TCGA-EE-A29M-06 COSM3566082 c.1573C>T p.P525S Substitution - Missense 2:127308646-127308646 - TCGA-EJ-7125-01 COSM3673470 c.1017C>A p.T339T Substitution - coding silent 2:127322074-127322074 - YUTUR COSM5394261 c.1299T>C p.L433L Substitution - coding silent 2:127317656-127317656 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.145603;Hs.145605 2q14.3 609487

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.L139V c.415T>G 2 128087548 LUAD A C Missense p.L338V c.1012T>G 2 128079655 CM C A Missense p.R491L c.1472G>T 2 128066323 RCCC C A Synonymous p.V459V c.1377G>T 2 128072409 LUAD C G Missense p.D221H c.661G>C 2 128083320 OV C G Missense p.G368R c.1102G>C 2 128075837 LUAD C T IntronicSNV . c.124-483G>A 2 128095837 CLL C T Missense p.A454T c.1360G>A 2 128072426 NB C T Missense p.S331N c.992G>A 2 128079675 BLCA C T Missense p.V497I c.1489G>A 2 128066306 UCEC C T Synonymous p.P559P c.1677G>A 2 128065338 STAD G A Missense p.P253L c.758C>T 2 128081558 CM G A Missense p.P285S c.853C>T 2 128079814 LUAD G A Missense p.P525S c.1573C>T 2 128066222 CM G A Synonymous p.N496N c.1488C>T 2 128066307 ESCA G C Missense p.I544M c.1632C>G 2 128066163 LUAD G C Missense p.T464S c.1391C>G 2 128072395 OV G C Nonsense p.S493* c.1478C>G 2 128066317 BLCA G - Frameshift p.S505Afs*14 c.1512delC 2 128066283 RCCC G - Frameshift p.T516Kfs*3 c.1547delC 2 128066248 UCEC GT AA Missense p.L220F c.657_658delinsTT 2 128083323 CM G T Synonymous p.R179R c.535C>A 2 128084325 CLL T A Synonymous p.P167P c.501A>T 2 128084359 BRCA T C 3-UTRSNV . c.1857+7096A>G 2 128058062 HC T C Missense p.M80V c.238A>G 2 128093472 BLCA T C Missense p.S302G c.904A>G 2 128079763 STAD T C Missense p.T94A c.280A>G 2 128088066 LUAD T - Frameshift p.K40Nfs*29 c.120delA 2 128096511 STAD - T Frameshift p.P38Tfs*6 c.111dupA 2 128096519 LUAD