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 1 6640684 6640684 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr1:6640684C>T c.15C>T c.(13-15)ttC>ttT p.F5F BLCA 1 6640690 6640690 + Silent SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr1:6640690G>A c.21G>A c.(19-21)caG>caA p.Q7Q BLCA 1 6640717 6640717 + Silent SNP C C T TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr1:6640717C>T c.48C>T c.(46-48)ctC>ctT p.L16L BLCA 1 6641236 6641236 + Silent SNP C C T TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chr1:6641236C>T c.567C>T c.(565-567)ctC>ctT p.L189L BLCA 1 6642191 6642191 + Missense_Mutation SNP G G C TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr1:6642191G>C c.764G>C c.(763-765)aGg>aCg p.R255T BLCA 1 6642229 6642229 + Missense_Mutation SNP G G A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr1:6642229G>A c.802G>A c.(802-804)Gag>Aag p.E268K BLCA 1 6648248 6648248 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 g.chr1:6648248G>C c.1508G>C c.(1507-1509)cGa>cCa p.R503P BLCA 1 6649195 6649195 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr1:6649195G>A c.1990G>A c.(1990-1992)Gag>Aag p.E664K BRCA 1 6640763 6640763 + Missense_Mutation SNP G G T TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 g.chr1:6640763G>T c.94G>T c.(94-96)Gtg>Ttg p.V32L BRCA 1 6642356 6642356 + Missense_Mutation SNP A A G TCGA-A8-A07C-01A-11D-A045-09 TCGA-A8-A07C-10A-01W-A055-09 g.chr1:6642356A>G c.929A>G c.(928-930)aAc>aGc p.N310S BRCA 1 6648359 6648359 + Missense_Mutation SNP G G A TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 g.chr1:6648359G>A c.1538G>A c.(1537-1539)cGc>cAc p.R513H BRCA 1 6649225 6649225 + Frame_Shift_Del DEL C C - TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 g.chr1:6649225delC c.2020delC c.(2020-2022)cccfs p.P674fs COAD 1 6646807 6646807 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr1:6646807G>A c.1097G>A c.(1096-1098)cGg>cAg p.R366Q COAD 1 6647546 6647546 + Silent SNP C C G TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr1:6647546C>G c.1233C>G c.(1231-1233)acC>acG p.T411T COAD 1 6648194 6648194 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr1:6648194G>A c.1454G>A c.(1453-1455)cGc>cAc p.R485H COAD 1 6648248 6648248 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:6648248G>A c.1508G>A c.(1507-1509)cGa>cAa p.R503Q COAD 1 6648413 6648413 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr1:6648413C>T c.1592C>T c.(1591-1593)aCt>aTt p.T531I COADREAD 1 6646807 6646807 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr1:6646807G>A c.1097G>A c.(1096-1098)cGg>cAg p.R366Q COADREAD 1 6647546 6647546 + Silent SNP C C G TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr1:6647546C>G c.1233C>G c.(1231-1233)acC>acG p.T411T COADREAD 1 6648194 6648194 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr1:6648194G>A c.1454G>A c.(1453-1455)cGc>cAc p.R485H COADREAD 1 6648248 6648248 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:6648248G>A c.1508G>A c.(1507-1509)cGa>cAa p.R503Q COADREAD 1 6648413 6648413 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr1:6648413C>T c.1592C>T c.(1591-1593)aCt>aTt p.T531I COADREAD 1 6648899 6648899 + Nonsense_Mutation SNP C C T TCGA-F5-6465-01A-11D-1733-10 TCGA-F5-6465-10A-01D-1733-10 g.chr1:6648899C>T c.1765C>T c.(1765-1767)Cga>Tga p.R589* ESCA 1 6642271 6642271 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 g.chr1:6642271G>A c.844G>A c.(844-846)Gag>Aag p.E282K ESCA 1 6649032 6649032 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr1:6649032G>A c.1827G>A c.(1825-1827)cgG>cgA p.R609R ESCA 1 6649261 6649262 + Frame_Shift_Del DEL TG TG - TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 g.chr1:6649261_6649262delTG c.2056_2057delTG c.(2056-2058)tgtfs p.C686fs GBMLGG 1 6647351 6647354 + Splice_Site DEL AGTA AGTA - TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr1:6647351_6647354delAGTA c.1224delAGTA c.(1222-1224)gca>gc p.A408fs HNSC 1 6640991 6640991 + Missense_Mutation SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr1:6640991G>A c.322G>A c.(322-324)Gta>Ata p.V108I HNSC 1 6642211 6642211 + Nonsense_Mutation SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr1:6642211C>T c.784C>T c.(784-786)Cga>Tga p.R262* HNSC 1 6646822 6646822 + Missense_Mutation SNP C C G TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 g.chr1:6646822C>G c.1112C>G c.(1111-1113)tCt>tGt p.S371C HNSC 1 6648384 6648384 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr1:6648384C>T c.1563C>T c.(1561-1563)ttC>ttT p.F521F HNSC 1 6648389 6648389 + Missense_Mutation SNP G G A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 g.chr1:6648389G>A c.1568G>A c.(1567-1569)tGc>tAc p.C523Y HNSC 1 6648997 6648997 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 g.chr1:6648997G>C c.1792G>C c.(1792-1794)Gag>Cag p.E598Q KICH 1 6641321 6641321 + Nonsense_Mutation SNP G G T TCGA-KN-8435-01A-11D-2310-10 TCGA-KN-8435-11A-01D-2311-10 g.chr1:6641321G>T c.652G>T c.(652-654)Gag>Tag p.E218* KICH 1 6646763 6646763 + Silent SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr1:6646763G>A c.1053G>A c.(1051-1053)acG>acA p.T351T KICH 1 6646821 6646821 + Missense_Mutation SNP T T C TCGA-KM-8443-01A-11D-2310-10 TCGA-KM-8443-10A-01D-2311-10 g.chr1:6646821T>C c.1111T>C c.(1111-1113)Tct>Cct p.S371P KIPAN 1 6640756 6640756 + Silent SNP T T A TCGA-BP-4341-01A-01D-1366-10 TCGA-BP-4341-11A-01D-1366-10 g.chr1:6640756T>A c.87T>A c.(85-87)acT>acA p.T29T KIPAN 1 6640799 6640799 + Missense_Mutation SNP C C T TCGA-2Z-A9JL-01A-11D-A42J-10 TCGA-2Z-A9JL-10A-01D-A42M-10 g.chr1:6640799C>T c.130C>T c.(130-132)Ctt>Ttt p.L44F KIPAN 1 6641321 6641321 + Nonsense_Mutation SNP G G T TCGA-KN-8435-01A-11D-2310-10 TCGA-KN-8435-11A-01D-2311-10 g.chr1:6641321G>T c.652G>T c.(652-654)Gag>Tag p.E218* KIPAN 1 6646763 6646763 + Silent SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr1:6646763G>A c.1053G>A c.(1051-1053)acG>acA p.T351T KIPAN 1 6646821 6646821 + Missense_Mutation SNP T T C TCGA-KM-8443-01A-11D-2310-10 TCGA-KM-8443-10A-01D-2311-10 g.chr1:6646821T>C c.1111T>C c.(1111-1113)Tct>Cct p.S371P KIPAN 1 6647268 6647280 + Frame_Shift_Del DEL TCCTCCTGCTCCC TCCTCCTGCTCCC - TCGA-CZ-4859-01A-02D-1429-08 TCGA-CZ-4859-11A-01D-1429-08 g.chr1:6647268_6647280delTCCTCCTGCTCCC c.1141_1153delTCCTCCTGCTCCC c.(1141-1155)tcctcctgctcccagfs p.SSCSQ381fs KIRC 1 6640756 6640756 + Silent SNP T T A TCGA-BP-4341-01A-01D-1366-10 TCGA-BP-4341-11A-01D-1366-10 g.chr1:6640756T>A c.87T>A c.(85-87)acT>acA p.T29T KIRC 1 6647268 6647280 + Frame_Shift_Del DEL TCCTCCTGCTCCC TCCTCCTGCTCCC - TCGA-CZ-4859-01A-02D-1429-08 TCGA-CZ-4859-11A-01D-1429-08 g.chr1:6647268_6647280delTCCTCCTGCTCCC c.1141_1153delTCCTCCTGCTCCC c.(1141-1155)tcctcctgctcccagfs p.SSCSQ381fs KIRP 1 6640799 6640799 + Missense_Mutation SNP C C T TCGA-2Z-A9JL-01A-11D-A42J-10 TCGA-2Z-A9JL-10A-01D-A42M-10 g.chr1:6640799C>T c.130C>T c.(130-132)Ctt>Ttt p.L44F LGG 1 6647351 6647354 + Splice_Site DEL AGTA AGTA - TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr1:6647351_6647354delAGTA c.1224delAGTA c.(1222-1224)gca>gc p.A408fs LIHC 1 6641168 6641168 + Nonsense_Mutation SNP A A T TCGA-DD-AACQ-01A-11D-A40R-10 TCGA-DD-AACQ-10A-01D-A40U-10 g.chr1:6641168A>T c.499A>T c.(499-501)Aga>Tga p.R167* LIHC 1 6642238 6642238 + Silent SNP C C T TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr1:6642238C>T c.811C>T c.(811-813)Ctg>Ttg p.L271L LIHC 1 6642352 6642352 + Missense_Mutation SNP C C T TCGA-RC-A6M6-01A-11D-A32G-10 TCGA-RC-A6M6-10A-01D-A32G-10 g.chr1:6642352C>T c.925C>T c.(925-927)Cac>Tac p.H309Y LUAD 1 6640757 6640757 + Silent SNP C C T TCGA-55-A48Y-01A-11D-A24D-08 TCGA-55-A48Y-10A-01D-A24F-08 g.chr1:6640757C>T c.88C>T c.(88-90)Ctg>Ttg p.L30L LUAD 1 6641229 6641229 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 g.chr1:6641229C>T c.560C>T c.(559-561)tCc>tTc p.S187F LUAD 1 6641242 6641242 + Silent SNP G G A TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr1:6641242G>A c.573G>A c.(571-573)ggG>ggA p.G191G LUSC 1 6642200 6642200 + Nonsense_Mutation SNP C C G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 g.chr1:6642200C>G c.773C>G c.(772-774)tCa>tGa p.S258* LUSC 1 6648820 6648820 + Silent SNP G G T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 g.chr1:6648820G>T c.1686G>T c.(1684-1686)gtG>gtT p.V562V PRAD 1 6640742 6640742 + Missense_Mutation SNP T T C TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:6640742T>C c.73T>C c.(73-75)Tac>Cac p.Y25H PRAD 1 6648255 6648255 + Splice_Site SNP A A T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 g.chr1:6648255A>T c.1515A>T c.(1513-1515)caA>caT p.Q505H PRAD 1 6649154 6649154 + Missense_Mutation SNP G G A TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 g.chr1:6649154G>A c.1949G>A c.(1948-1950)gGc>gAc p.G650D READ 1 6648899 6648899 + Nonsense_Mutation SNP C C T TCGA-F5-6465-01A-11D-1733-10 TCGA-F5-6465-10A-01D-1733-10 g.chr1:6648899C>T c.1765C>T c.(1765-1767)Cga>Tga p.R589* SKCM 1 6640826 6640826 + Missense_Mutation SNP A A G TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr1:6640826A>G c.157A>G c.(157-159)Agc>Ggc p.S53G SKCM 1 6640876 6640876 + Silent SNP C C T TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr1:6640876C>T c.207C>T c.(205-207)ttC>ttT p.F69F SKCM 1 6648404 6648405 + Frame_Shift_Del DEL AG AG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr1:6648404_6648405delAG c.1583_1584delAG c.(1582-1584)cagfs p.Q528fs SKCM 1 6649172 6649172 + Missense_Mutation SNP C C T TCGA-D3-A51F-06A-11D-A25O-08 TCGA-D3-A51F-10A-01D-A25O-08 g.chr1:6649172C>T c.1967C>T c.(1966-1968)cCc>cTc p.P656L SKCM 1 6649218 6649218 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr1:6649218C>T c.2013C>T c.(2011-2013)gtC>gtT p.V671V SKCM 1 6649219 6649219 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr1:6649219C>T c.2014C>T c.(2014-2016)Ctg>Ttg p.L672L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 6635247 6635247 single base substitution G A upstream_gene_variant BLCA-CN 1 6646824 6646824 single base substitution C G downstream_gene_variant BLCA-CN 1 6646824 6646824 single base substitution C G exon_variant BLCA-CN 1 6646824 6646824 single base substitution C G missense_variant H127D 379C>G BLCA-CN 1 6646824 6646824 single base substitution C G missense_variant H372D 1114C>G BLCA-CN 1 6646824 6646824 single base substitution C G upstream_gene_variant BLCA-CN 1 6648411 6648411 single base substitution C T downstream_gene_variant BLCA-CN 1 6648411 6648411 single base substitution C T exon_variant BLCA-CN 1 6648411 6648411 single base substitution C T synonymous_variant F530F 1590C>T BLCA-CN 1 6648411 6648411 single base substitution C T upstream_gene_variant BLCA-US 1 6639125 6639125 single base substitution C G upstream_gene_variant BLCA-US 1 6639332 6639332 single base substitution C T upstream_gene_variant BLCA-US 1 6639338 6639338 single base substitution C T upstream_gene_variant BLCA-US 1 6639446 6639446 single base substitution C G upstream_gene_variant BLCA-US 1 6649195 6649195 single base substitution G A 3_prime_UTR_variant BLCA-US 1 6649195 6649195 single base substitution G A downstream_gene_variant BLCA-US 1 6649195 6649195 single base substitution G A exon_variant BLCA-US 1 6649195 6649195 single base substitution G A missense_variant E664K 1990G>A BRCA-EU 1 6637150 6637150 single base substitution G T upstream_gene_variant BRCA-EU 1 6637894 6637894 single base substitution A G upstream_gene_variant BRCA-EU 1 6637973 6637986 deletion of <=200bp TCCTACAAAAGCAG - upstream_gene_variant BRCA-EU 1 6638293 6638293 single base substitution C G upstream_gene_variant BRCA-EU 1 6638414 6638414 single base substitution G C upstream_gene_variant BRCA-EU 1 6640919 6640919 single base substitution C T intron_variant BRCA-EU 1 6640919 6640919 single base substitution C T missense_variant H84Y 250C>T BRCA-EU 1 6640919 6640919 single base substitution C T upstream_gene_variant BRCA-EU 1 6643668 6643668 single base substitution T A downstream_gene_variant BRCA-EU 1 6643668 6643668 single base substitution T A intron_variant BRCA-EU 1 6643668 6643668 single base substitution T A upstream_gene_variant BRCA-EU 1 6643817 6643817 single base substitution C T downstream_gene_variant BRCA-EU 1 6643817 6643817 single base substitution C T intron_variant BRCA-EU 1 6643817 6643817 single base substitution C T upstream_gene_variant BRCA-EU 1 6644844 6644844 single base substitution G C downstream_gene_variant BRCA-EU 1 6644844 6644844 single base substitution G C intron_variant BRCA-EU 1 6644844 6644844 single base substitution G C upstream_gene_variant BRCA-EU 1 6644953 6644953 single base substitution G A downstream_gene_variant BRCA-EU 1 6644953 6644953 single base substitution G A intron_variant BRCA-EU 1 6644953 6644953 single base substitution G A upstream_gene_variant BRCA-EU 1 6646772 6646772 single base substitution G A downstream_gene_variant BRCA-EU 1 6646772 6646772 single base substitution G A exon_variant BRCA-EU 1 6646772 6646772 single base substitution G A synonymous_variant V109V 327G>A BRCA-EU 1 6646772 6646772 single base substitution G A synonymous_variant V354V 1062G>A BRCA-EU 1 6646772 6646772 single base substitution G A upstream_gene_variant BRCA-EU 1 6646818 6646818 single base substitution G C downstream_gene_variant BRCA-EU 1 6646818 6646818 single base substitution G C exon_variant BRCA-EU 1 6646818 6646818 single base substitution G C missense_variant V125L 373G>C BRCA-EU 1 6646818 6646818 single base substitution G C missense_variant V370L 1108G>C BRCA-EU 1 6646818 6646818 single base substitution G C upstream_gene_variant BRCA-EU 1 6647130 6647130 single base substitution C G downstream_gene_variant BRCA-EU 1 6647130 6647130 single base substitution C G exon_variant BRCA-EU 1 6647130 6647130 single base substitution C G intron_variant BRCA-EU 1 6647130 6647130 single base substitution C G upstream_gene_variant BRCA-EU 1 6647898 6647898 single base substitution C G intron_variant BRCA-EU 1 6647898 6647898 single base substitution C G upstream_gene_variant BRCA-EU 1 6648484 6648484 single base substitution T C 3_prime_UTR_variant BRCA-EU 1 6648484 6648484 single base substitution T C downstream_gene_variant BRCA-EU 1 6648484 6648484 single base substitution T C exon_variant BRCA-EU 1 6648484 6648484 single base substitution T C missense_variant C555R 1663T>C BRCA-EU 1 6648484 6648484 single base substitution T C upstream_gene_variant BRCA-EU 1 6651086 6651086 single base substitution C A downstream_gene_variant BRCA-EU 1 6653663 6653663 single base substitution C T downstream_gene_variant BRCA-EU 1 6654004 6654004 single base substitution C T downstream_gene_variant BRCA-FR 1 6638293 6638293 single base substitution C G upstream_gene_variant BRCA-FR 1 6640919 6640919 single base substitution C T intron_variant BRCA-FR 1 6640919 6640919 single base substitution C T missense_variant H84Y 250C>T BRCA-FR 1 6640919 6640919 single base substitution C T upstream_gene_variant BRCA-FR 1 6644844 6644844 single base substitution G C downstream_gene_variant BRCA-FR 1 6644844 6644844 single base substitution G C intron_variant BRCA-FR 1 6644844 6644844 single base substitution G C upstream_gene_variant BRCA-UK 1 6637847 6637847 single base substitution C T upstream_gene_variant BRCA-UK 1 6637856 6637856 single base substitution C G upstream_gene_variant BRCA-UK 1 6638458 6638458 single base substitution C T upstream_gene_variant BRCA-UK 1 6638518 6638518 single base substitution C T upstream_gene_variant BRCA-UK 1 6639612 6639612 single base substitution C G upstream_gene_variant BRCA-US 1 6637090 6637090 single base substitution G A upstream_gene_variant BRCA-US 1 6639317 6639317 single base substitution C G upstream_gene_variant BRCA-US 1 6640763 6640763 single base substitution G T intron_variant BRCA-US 1 6640763 6640763 single base substitution G T missense_variant V32L 94G>T BRCA-US 1 6640763 6640763 single base substitution G T upstream_gene_variant BRCA-US 1 6642356 6642356 single base substitution A G downstream_gene_variant BRCA-US 1 6642356 6642356 single base substitution A G missense_variant N310S 929A>G BRCA-US 1 6642356 6642356 single base substitution A G missense_variant N65S 194A>G BRCA-US 1 6642356 6642356 single base substitution A G upstream_gene_variant BRCA-US 1 6648359 6648359 single base substitution G A downstream_gene_variant BRCA-US 1 6648359 6648359 single base substitution G A exon_variant BRCA-US 1 6648359 6648359 single base substitution G A missense_variant R513H 1538G>A BRCA-US 1 6648359 6648359 single base substitution G A upstream_gene_variant BRCA-US 1 6649225 6649225 deletion of <=200bp C - downstream_gene_variant BRCA-US 1 6649225 6649225 deletion of <=200bp C - exon_variant BRCA-US 1 6649225 6649225 deletion of <=200bp C - frameshift_variant P674 BTCA-JP 1 6636612 6636612 single base substitution C T upstream_gene_variant BTCA-JP 1 6641104 6641104 single base substitution G A intron_variant BTCA-JP 1 6641104 6641104 single base substitution G A synonymous_variant P145P 435G>A BTCA-JP 1 6641104 6641104 single base substitution G A upstream_gene_variant BTCA-JP 1 6646765 6646765 single base substitution G T downstream_gene_variant BTCA-JP 1 6646765 6646765 single base substitution G T exon_variant BTCA-JP 1 6646765 6646765 single base substitution G T missense_variant C107F 320G>T BTCA-JP 1 6646765 6646765 single base substitution G T missense_variant C352F 1055G>T BTCA-JP 1 6646765 6646765 single base substitution G T upstream_gene_variant BTCA-JP 1 6647070 6647070 single base substitution G A downstream_gene_variant BTCA-JP 1 6647070 6647070 single base substitution G A exon_variant BTCA-JP 1 6647070 6647070 single base substitution G A intron_variant BTCA-JP 1 6647070 6647070 single base substitution G A upstream_gene_variant BTCA-JP 1 6647585 6647585 single base substitution G A exon_variant BTCA-JP 1 6647585 6647585 single base substitution G A synonymous_variant L179L 537G>A BTCA-JP 1 6647585 6647585 single base substitution G A synonymous_variant L424L 1272G>A BTCA-JP 1 6647585 6647585 single base substitution G A upstream_gene_variant BTCA-JP 1 6648084 6648084 single base substitution G A intron_variant BTCA-JP 1 6648084 6648084 single base substitution G A upstream_gene_variant BTCA-JP 1 6648186 6648186 single base substitution G A downstream_gene_variant BTCA-JP 1 6648186 6648186 single base substitution G A exon_variant BTCA-JP 1 6648186 6648186 single base substitution G A missense_variant M482I 1446G>A BTCA-JP 1 6648186 6648186 single base substitution G A upstream_gene_variant BTCA-JP 1 6648208 6648208 single base substitution G C downstream_gene_variant BTCA-JP 1 6648208 6648208 single base substitution G C exon_variant BTCA-JP 1 6648208 6648208 single base substitution G C missense_variant E490Q 1468G>C BTCA-JP 1 6648208 6648208 single base substitution G C upstream_gene_variant CESC-US 1 6635241 6635241 single base substitution G A upstream_gene_variant CESC-US 1 6638780 6638780 single base substitution G A upstream_gene_variant CESC-US 1 6638937 6638937 single base substitution C T upstream_gene_variant CLLE-ES 1 6643666 6643666 insertion of <=200bp - A downstream_gene_variant CLLE-ES 1 6643666 6643666 insertion of <=200bp - A intron_variant CLLE-ES 1 6643666 6643666 insertion of <=200bp - A upstream_gene_variant COAD-US 1 6636588 6636588 single base substitution A G upstream_gene_variant COAD-US 1 6638856 6638856 single base substitution C T upstream_gene_variant COAD-US 1 6638925 6638925 single base substitution C T upstream_gene_variant COAD-US 1 6638968 6638968 single base substitution G A upstream_gene_variant COAD-US 1 6639073 6639073 single base substitution G A upstream_gene_variant COAD-US 1 6639180 6639180 single base substitution G A upstream_gene_variant COAD-US 1 6639400 6639400 single base substitution G T upstream_gene_variant COAD-US 1 6647546 6647546 single base substitution C G exon_variant COAD-US 1 6647546 6647546 single base substitution C G intron_variant COAD-US 1 6647546 6647546 single base substitution C G synonymous_variant T166T 498C>G COAD-US 1 6647546 6647546 single base substitution C G synonymous_variant T411T 1233C>G COAD-US 1 6647546 6647546 single base substitution C G upstream_gene_variant COAD-US 1 6648194 6648194 single base substitution G A downstream_gene_variant COAD-US 1 6648194 6648194 single base substitution G A exon_variant COAD-US 1 6648194 6648194 single base substitution G A missense_variant R485H 1454G>A COAD-US 1 6648194 6648194 single base substitution G A upstream_gene_variant COAD-US 1 6648248 6648248 single base substitution G A downstream_gene_variant COAD-US 1 6648248 6648248 single base substitution G A exon_variant COAD-US 1 6648248 6648248 single base substitution G A missense_variant R503Q 1508G>A COAD-US 1 6648248 6648248 single base substitution G A upstream_gene_variant COAD-US 1 6648413 6648413 single base substitution C T downstream_gene_variant COAD-US 1 6648413 6648413 single base substitution C T exon_variant COAD-US 1 6648413 6648413 single base substitution C T missense_variant T531I 1592C>T COAD-US 1 6648413 6648413 single base substitution C T upstream_gene_variant COAD-US 1 6649228 6649228 single base substitution T G downstream_gene_variant COAD-US 1 6649228 6649228 single base substitution T G exon_variant COAD-US 1 6649228 6649228 single base substitution T G missense_variant S675A 2023T>G COAD-US 1 6653586 6653586 single base substitution G A downstream_gene_variant COAD-US 1 6653694 6653694 single base substitution C T downstream_gene_variant COAD-US 1 6653704 6653704 insertion of <=200bp - C downstream_gene_variant COCA-CN 1 6636461 6636461 single base substitution C T upstream_gene_variant COCA-CN 1 6636522 6636522 single base substitution T G upstream_gene_variant COCA-CN 1 6636873 6636873 single base substitution C T upstream_gene_variant COCA-CN 1 6636934 6636934 single base substitution G T upstream_gene_variant COCA-CN 1 6637536 6637536 single base substitution A G upstream_gene_variant COCA-CN 1 6638561 6638561 single base substitution C T upstream_gene_variant COCA-CN 1 6638923 6638923 single base substitution G C upstream_gene_variant COCA-CN 1 6639163 6639163 single base substitution T C upstream_gene_variant COCA-CN 1 6641229 6641229 single base substitution C A intron_variant COCA-CN 1 6641229 6641229 single base substitution C A missense_variant S187Y 560C>A COCA-CN 1 6641229 6641229 single base substitution C A upstream_gene_variant COCA-CN 1 6642384 6642384 single base substitution C A downstream_gene_variant COCA-CN 1 6642384 6642384 single base substitution C A intron_variant COCA-CN 1 6642384 6642384 single base substitution C A upstream_gene_variant COCA-CN 1 6646876 6646876 single base substitution G T downstream_gene_variant COCA-CN 1 6646876 6646876 single base substitution G T exon_variant COCA-CN 1 6646876 6646876 single base substitution G T intron_variant COCA-CN 1 6646876 6646876 single base substitution G T upstream_gene_variant COCA-CN 1 6647059 6647059 single base substitution C A downstream_gene_variant COCA-CN 1 6647059 6647059 single base substitution C A exon_variant COCA-CN 1 6647059 6647059 single base substitution C A intron_variant COCA-CN 1 6647059 6647059 single base substitution C A upstream_gene_variant COCA-CN 1 6647706 6647706 single base substitution G A intron_variant COCA-CN 1 6647706 6647706 single base substitution G A upstream_gene_variant ESAD-UK 1 6636176 6636176 single base substitution T C upstream_gene_variant ESAD-UK 1 6636385 6636385 single base substitution C T upstream_gene_variant ESAD-UK 1 6639114 6639114 single base substitution G T upstream_gene_variant ESAD-UK 1 6644612 6644612 single base substitution C T downstream_gene_variant ESAD-UK 1 6644612 6644612 single base substitution C T intron_variant ESAD-UK 1 6644612 6644612 single base substitution C T upstream_gene_variant ESAD-UK 1 6649031 6649031 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 6649031 6649031 single base substitution G A downstream_gene_variant ESAD-UK 1 6649031 6649031 single base substitution G A exon_variant ESAD-UK 1 6649031 6649031 single base substitution G A missense_variant R609Q 1826G>A ESAD-UK 1 6649712 6649712 single base substitution T G downstream_gene_variant ESAD-UK 1 6651423 6651423 single base substitution C T downstream_gene_variant ESAD-UK 1 6652071 6652071 single base substitution C T downstream_gene_variant ESAD-UK 1 6652457 6652457 single base substitution C T downstream_gene_variant ESAD-UK 1 6653978 6653978 single base substitution C T downstream_gene_variant ESAD-UK 1 6654250 6654250 single base substitution G A downstream_gene_variant ESCA-CN 1 6646770 6646770 single base substitution G A downstream_gene_variant ESCA-CN 1 6646770 6646770 single base substitution G A exon_variant ESCA-CN 1 6646770 6646770 single base substitution G A missense_variant V109M 325G>A ESCA-CN 1 6646770 6646770 single base substitution G A missense_variant V354M 1060G>A ESCA-CN 1 6646770 6646770 single base substitution G A upstream_gene_variant GBM-US 1 6638981 6638981 insertion of <=200bp - T upstream_gene_variant GBM-US 1 6639227 6639227 single base substitution A G upstream_gene_variant KIRC-US 1 6638984 6638984 insertion of <=200bp - T upstream_gene_variant KIRC-US 1 6640756 6640756 single base substitution T A intron_variant KIRC-US 1 6640756 6640756 single base substitution T A synonymous_variant T29T 87T>A KIRC-US 1 6640756 6640756 single base substitution T A upstream_gene_variant KIRC-US 1 6647268 6647280 deletion of <=200bp TCCTCCTGCTCCC - downstream_gene_variant KIRC-US 1 6647268 6647280 deletion of <=200bp TCCTCCTGCTCCC - exon_variant KIRC-US 1 6647268 6647280 deletion of <=200bp TCCTCCTGCTCCC - frameshift_variant SSCSQ136 KIRC-US 1 6647268 6647280 deletion of <=200bp TCCTCCTGCTCCC - frameshift_variant SSCSQ381 KIRC-US 1 6647268 6647280 deletion of <=200bp TCCTCCTGCTCCC - upstream_gene_variant KIRP-US 1 6639491 6639491 single base substitution C T upstream_gene_variant KIRP-US 1 6639633 6639633 single base substitution G A upstream_gene_variant LAML-KR 1 6643300 6643300 single base substitution T C downstream_gene_variant LAML-KR 1 6643300 6643300 single base substitution T C intron_variant LAML-KR 1 6643300 6643300 single base substitution T C upstream_gene_variant LAML-KR 1 6644225 6644225 single base substitution T C downstream_gene_variant LAML-KR 1 6644225 6644225 single base substitution T C intron_variant LAML-KR 1 6644225 6644225 single base substitution T C upstream_gene_variant LGG-US 1 6647351 6647354 deletion of <=200bp AGTA - downstream_gene_variant LGG-US 1 6647351 6647354 deletion of <=200bp AGTA - frameshift_variant A163 LGG-US 1 6647351 6647354 deletion of <=200bp AGTA - frameshift_variant A408 LGG-US 1 6647351 6647354 deletion of <=200bp AGTA - splice_donor_variant LGG-US 1 6647351 6647354 deletion of <=200bp AGTA - upstream_gene_variant LICA-FR 1 6636500 6636500 single base substitution A G upstream_gene_variant LICA-FR 1 6646030 6646030 single base substitution C T downstream_gene_variant LICA-FR 1 6646030 6646030 single base substitution C T exon_variant LICA-FR 1 6646030 6646030 single base substitution C T synonymous_variant Y328Y 984C>T LICA-FR 1 6646030 6646030 single base substitution C T synonymous_variant Y83Y 249C>T LICA-FR 1 6646030 6646030 single base substitution C T upstream_gene_variant LICA-FR 1 6649028 6649028 single base substitution C T 3_prime_UTR_variant LICA-FR 1 6649028 6649028 single base substitution C T downstream_gene_variant LICA-FR 1 6649028 6649028 single base substitution C T exon_variant LICA-FR 1 6649028 6649028 single base substitution C T missense_variant P608L 1823C>T LIHC-US 1 6635364 6635364 single base substitution G A upstream_gene_variant LIHC-US 1 6635435 6635435 single base substitution C T upstream_gene_variant LIHC-US 1 6639185 6639185 single base substitution C T upstream_gene_variant LIHC-US 1 6646059 6646059 single base substitution A G downstream_gene_variant LIHC-US 1 6646059 6646059 single base substitution A G exon_variant LIHC-US 1 6646059 6646059 single base substitution A G missense_variant E338G 1013A>G LIHC-US 1 6646059 6646059 single base substitution A G missense_variant E93G 278A>G LIHC-US 1 6646059 6646059 single base substitution A G upstream_gene_variant LINC-JP 1 6639818 6639818 single base substitution T C upstream_gene_variant LINC-JP 1 6646595 6646595 single base substitution G A downstream_gene_variant LINC-JP 1 6646595 6646595 single base substitution G A exon_variant LINC-JP 1 6646595 6646595 single base substitution G A intron_variant LINC-JP 1 6646595 6646595 single base substitution G A upstream_gene_variant LINC-JP 1 6646765 6646765 single base substitution G T downstream_gene_variant LINC-JP 1 6646765 6646765 single base substitution G T exon_variant LINC-JP 1 6646765 6646765 single base substitution G T missense_variant C107F 320G>T LINC-JP 1 6646765 6646765 single base substitution G T missense_variant C352F 1055G>T LINC-JP 1 6646765 6646765 single base substitution G T upstream_gene_variant LINC-JP 1 6646977 6646977 single base substitution C T downstream_gene_variant LINC-JP 1 6646977 6646977 single base substitution C T exon_variant LINC-JP 1 6646977 6646977 single base substitution C T intron_variant LINC-JP 1 6646977 6646977 single base substitution C T upstream_gene_variant LINC-JP 1 6647070 6647070 single base substitution G A downstream_gene_variant LINC-JP 1 6647070 6647070 single base substitution G A exon_variant LINC-JP 1 6647070 6647070 single base substitution G A intron_variant LINC-JP 1 6647070 6647070 single base substitution G A upstream_gene_variant LINC-JP 1 6647337 6647337 single base substitution C T downstream_gene_variant LINC-JP 1 6647337 6647337 single base substitution C T exon_variant LINC-JP 1 6647337 6647337 single base substitution C T missense_variant P159S 475C>T LINC-JP 1 6647337 6647337 single base substitution C T missense_variant P404S 1210C>T LINC-JP 1 6647337 6647337 single base substitution C T upstream_gene_variant LINC-JP 1 6647585 6647585 single base substitution G A exon_variant LINC-JP 1 6647585 6647585 single base substitution G A synonymous_variant L179L 537G>A LINC-JP 1 6647585 6647585 single base substitution G A synonymous_variant L424L 1272G>A LINC-JP 1 6647585 6647585 single base substitution G A upstream_gene_variant LINC-JP 1 6648084 6648084 single base substitution G A intron_variant LINC-JP 1 6648084 6648084 single base substitution G A upstream_gene_variant LINC-JP 1 6648186 6648186 single base substitution G A downstream_gene_variant LINC-JP 1 6648186 6648186 single base substitution G A exon_variant LINC-JP 1 6648186 6648186 single base substitution G A missense_variant M482I 1446G>A LINC-JP 1 6648186 6648186 single base substitution G A upstream_gene_variant LINC-JP 1 6648208 6648208 single base substitution G C downstream_gene_variant LINC-JP 1 6648208 6648208 single base substitution G C exon_variant LINC-JP 1 6648208 6648208 single base substitution G C missense_variant E490Q 1468G>C LINC-JP 1 6648208 6648208 single base substitution G C upstream_gene_variant LINC-JP 1 6651250 6651250 single base substitution G A downstream_gene_variant LIRI-JP 1 6637610 6637610 single base substitution C T upstream_gene_variant LIRI-JP 1 6637951 6637951 single base substitution G C upstream_gene_variant LIRI-JP 1 6639075 6639075 single base substitution T A upstream_gene_variant LIRI-JP 1 6639076 6639076 single base substitution C T upstream_gene_variant LIRI-JP 1 6639895 6639895 single base substitution C G upstream_gene_variant LIRI-JP 1 6642591 6642591 single base substitution A G downstream_gene_variant LIRI-JP 1 6642591 6642591 single base substitution A G intron_variant LIRI-JP 1 6642591 6642591 single base substitution A G upstream_gene_variant LIRI-JP 1 6647293 6647295 deletion of <=200bp AGA - downstream_gene_variant LIRI-JP 1 6647293 6647295 deletion of <=200bp AGA - exon_variant LIRI-JP 1 6647293 6647295 deletion of <=200bp AGA - inframe_deletion QK144Q LIRI-JP 1 6647293 6647295 deletion of <=200bp AGA - inframe_deletion QK389Q LIRI-JP 1 6647293 6647295 deletion of <=200bp AGA - upstream_gene_variant LIRI-JP 1 6649117 6649117 single base substitution T A 3_prime_UTR_variant LIRI-JP 1 6649117 6649117 single base substitution T A downstream_gene_variant LIRI-JP 1 6649117 6649117 single base substitution T A exon_variant LIRI-JP 1 6649117 6649117 single base substitution T A missense_variant S638T 1912T>A LIRI-JP 1 6651033 6651033 single base substitution T G downstream_gene_variant LIRI-JP 1 6652062 6652062 single base substitution A C downstream_gene_variant LIRI-JP 1 6653864 6653864 single base substitution C A downstream_gene_variant LIRI-JP 1 6653868 6653868 single base substitution T C downstream_gene_variant LUSC-KR 1 6635648 6635648 single base substitution G T upstream_gene_variant LUSC-KR 1 6636461 6636461 single base substitution C T upstream_gene_variant LUSC-KR 1 6637171 6637171 single base substitution G A upstream_gene_variant LUSC-KR 1 6638995 6638995 single base substitution C T upstream_gene_variant LUSC-KR 1 6639864 6639864 single base substitution C T upstream_gene_variant LUSC-KR 1 6645866 6645866 single base substitution C T downstream_gene_variant LUSC-KR 1 6645866 6645866 single base substitution C T exon_variant LUSC-KR 1 6645866 6645866 single base substitution C T intron_variant LUSC-KR 1 6645866 6645866 single base substitution C T upstream_gene_variant LUSC-KR 1 6647704 6647704 single base substitution C G intron_variant LUSC-KR 1 6647704 6647704 single base substitution C G upstream_gene_variant LUSC-KR 1 6651259 6651259 single base substitution T C downstream_gene_variant LUSC-KR 1 6651349 6651349 single base substitution A C downstream_gene_variant LUSC-KR 1 6651728 6651728 single base substitution C T downstream_gene_variant LUSC-KR 1 6652718 6652718 single base substitution G A downstream_gene_variant LUSC-KR 1 6652745 6652745 single base substitution G A downstream_gene_variant LUSC-US 1 6635260 6635260 single base substitution C T upstream_gene_variant LUSC-US 1 6636553 6636553 single base substitution A T upstream_gene_variant LUSC-US 1 6637114 6637114 single base substitution C A upstream_gene_variant LUSC-US 1 6639480 6639480 single base substitution C T upstream_gene_variant LUSC-US 1 6642200 6642200 single base substitution C G stop_gained S13* 38C>G LUSC-US 1 6642200 6642200 single base substitution C G stop_gained S258* 773C>G LUSC-US 1 6642200 6642200 single base substitution C G upstream_gene_variant LUSC-US 1 6648820 6648820 single base substitution G T 3_prime_UTR_variant LUSC-US 1 6648820 6648820 single base substitution G T downstream_gene_variant LUSC-US 1 6648820 6648820 single base substitution G T exon_variant LUSC-US 1 6648820 6648820 single base substitution G T synonymous_variant V562V 1686G>T MALY-DE 1 6636253 6636253 single base substitution A C upstream_gene_variant MALY-DE 1 6638063 6638063 single base substitution C T upstream_gene_variant MALY-DE 1 6638895 6638895 single base substitution G T upstream_gene_variant MALY-DE 1 6645587 6645587 single base substitution G A downstream_gene_variant MALY-DE 1 6645587 6645587 single base substitution G A exon_variant MALY-DE 1 6645587 6645587 single base substitution G A intron_variant MALY-DE 1 6645587 6645587 single base substitution G A upstream_gene_variant MALY-DE 1 6650262 6650262 single base substitution T G downstream_gene_variant MALY-DE 1 6651730 6651730 single base substitution A G downstream_gene_variant MELA-AU 1 6635133 6635133 single base substitution G A upstream_gene_variant MELA-AU 1 6635134 6635134 single base substitution G A upstream_gene_variant MELA-AU 1 6635286 6635286 single base substitution G A upstream_gene_variant MELA-AU 1 6635427 6635427 single base substitution C T upstream_gene_variant MELA-AU 1 6635514 6635514 single base substitution G A upstream_gene_variant MELA-AU 1 6635740 6635740 single base substitution G A upstream_gene_variant MELA-AU 1 6635783 6635783 single base substitution C T upstream_gene_variant MELA-AU 1 6635888 6635888 single base substitution G A upstream_gene_variant MELA-AU 1 6635898 6635898 single base substitution G C upstream_gene_variant MELA-AU 1 6636023 6636023 single base substitution G A upstream_gene_variant MELA-AU 1 6636024 6636024 single base substitution G A upstream_gene_variant MELA-AU 1 6636110 6636110 single base substitution G A upstream_gene_variant MELA-AU 1 6636141 6636141 single base substitution C T upstream_gene_variant MELA-AU 1 6636177 6636177 single base substitution C T upstream_gene_variant MELA-AU 1 6636184 6636184 single base substitution C T upstream_gene_variant MELA-AU 1 6636834 6636834 single base substitution G A upstream_gene_variant MELA-AU 1 6636874 6636875 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 6637310 6637310 single base substitution G A upstream_gene_variant MELA-AU 1 6637596 6637596 single base substitution G A upstream_gene_variant MELA-AU 1 6638362 6638362 single base substitution G A upstream_gene_variant MELA-AU 1 6638364 6638364 single base substitution G A upstream_gene_variant MELA-AU 1 6638688 6638688 single base substitution G T upstream_gene_variant MELA-AU 1 6638742 6638742 single base substitution G A upstream_gene_variant MELA-AU 1 6639128 6639128 single base substitution C T upstream_gene_variant MELA-AU 1 6639898 6639898 single base substitution G A upstream_gene_variant MELA-AU 1 6639920 6639920 single base substitution C T upstream_gene_variant MELA-AU 1 6639922 6639922 single base substitution G A upstream_gene_variant MELA-AU 1 6639983 6639983 single base substitution C T upstream_gene_variant MELA-AU 1 6640005 6640005 single base substitution G A upstream_gene_variant MELA-AU 1 6640684 6640684 single base substitution C T intron_variant MELA-AU 1 6640684 6640684 single base substitution C T synonymous_variant F5F 15C>T MELA-AU 1 6640684 6640684 single base substitution C T upstream_gene_variant MELA-AU 1 6641215 6641215 single base substitution G A intron_variant MELA-AU 1 6641215 6641215 single base substitution G A synonymous_variant Q182Q 546G>A MELA-AU 1 6641215 6641215 single base substitution G A upstream_gene_variant MELA-AU 1 6641335 6641335 single base substitution C T intron_variant MELA-AU 1 6641335 6641335 single base substitution C T synonymous_variant A222A 666C>T MELA-AU 1 6641335 6641335 single base substitution C T upstream_gene_variant MELA-AU 1 6641581 6641581 single base substitution G A intron_variant MELA-AU 1 6641581 6641581 single base substitution G A upstream_gene_variant MELA-AU 1 6642445 6642445 single base substitution G A downstream_gene_variant MELA-AU 1 6642445 6642445 single base substitution G A intron_variant MELA-AU 1 6642445 6642445 single base substitution G A upstream_gene_variant MELA-AU 1 6642682 6642682 single base substitution T A downstream_gene_variant MELA-AU 1 6642682 6642682 single base substitution T A intron_variant MELA-AU 1 6642682 6642682 single base substitution T A upstream_gene_variant MELA-AU 1 6642974 6642975 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 6642974 6642975 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 6642974 6642975 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 6644018 6644018 single base substitution G A downstream_gene_variant MELA-AU 1 6644018 6644018 single base substitution G A intron_variant MELA-AU 1 6644018 6644018 single base substitution G A upstream_gene_variant MELA-AU 1 6644354 6644354 single base substitution G T downstream_gene_variant MELA-AU 1 6644354 6644354 single base substitution G T intron_variant MELA-AU 1 6644354 6644354 single base substitution G T upstream_gene_variant MELA-AU 1 6645705 6645705 single base substitution C T downstream_gene_variant MELA-AU 1 6645705 6645705 single base substitution C T exon_variant MELA-AU 1 6645705 6645705 single base substitution C T intron_variant MELA-AU 1 6645705 6645705 single base substitution C T upstream_gene_variant MELA-AU 1 6646374 6646374 single base substitution C T downstream_gene_variant MELA-AU 1 6646374 6646374 single base substitution C T exon_variant MELA-AU 1 6646374 6646374 single base substitution C T intron_variant MELA-AU 1 6646374 6646374 single base substitution C T upstream_gene_variant MELA-AU 1 6647201 6647202 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 6647201 6647202 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 1 6647201 6647202 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 6647201 6647202 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 6647278 6647278 single base substitution C T downstream_gene_variant MELA-AU 1 6647278 6647278 single base substitution C T exon_variant MELA-AU 1 6647278 6647278 single base substitution C T missense_variant S139F 416C>T MELA-AU 1 6647278 6647278 single base substitution C T missense_variant S384F 1151C>T MELA-AU 1 6647278 6647278 single base substitution C T upstream_gene_variant MELA-AU 1 6647644 6647644 single base substitution G A exon_variant MELA-AU 1 6647644 6647644 single base substitution G A missense_variant R199Q 596G>A MELA-AU 1 6647644 6647644 single base substitution G A missense_variant R444Q 1331G>A MELA-AU 1 6647644 6647644 single base substitution G A upstream_gene_variant MELA-AU 1 6650570 6650570 single base substitution G T downstream_gene_variant MELA-AU 1 6651731 6651731 single base substitution G A downstream_gene_variant MELA-AU 1 6651740 6651740 single base substitution G A downstream_gene_variant MELA-AU 1 6652317 6652317 single base substitution G A downstream_gene_variant MELA-AU 1 6652831 6652831 single base substitution G A downstream_gene_variant MELA-AU 1 6653759 6653759 single base substitution G A downstream_gene_variant MELA-AU 1 6653838 6653838 single base substitution C T downstream_gene_variant MELA-AU 1 6654064 6654064 single base substitution G A downstream_gene_variant ORCA-IN 1 6636504 6636504 single base substitution C T upstream_gene_variant ORCA-IN 1 6636637 6636637 single base substitution C G upstream_gene_variant ORCA-IN 1 6640753 6640753 single base substitution C T intron_variant ORCA-IN 1 6640753 6640753 single base substitution C T synonymous_variant A28A 84C>T ORCA-IN 1 6640753 6640753 single base substitution C T upstream_gene_variant ORCA-IN 1 6646052 6646052 single base substitution G C downstream_gene_variant ORCA-IN 1 6646052 6646052 single base substitution G C exon_variant ORCA-IN 1 6646052 6646052 single base substitution G C missense_variant E336Q 1006G>C ORCA-IN 1 6646052 6646052 single base substitution G C missense_variant E91Q 271G>C ORCA-IN 1 6646052 6646052 single base substitution G C upstream_gene_variant OV-AU 1 6637013 6637013 single base substitution C G upstream_gene_variant OV-AU 1 6637894 6637894 single base substitution A G upstream_gene_variant OV-AU 1 6640309 6640309 single base substitution C T intron_variant OV-AU 1 6641283 6641283 single base substitution A T intron_variant OV-AU 1 6641283 6641283 single base substitution A T missense_variant K205M 614A>T OV-AU 1 6641283 6641283 single base substitution A T upstream_gene_variant OV-AU 1 6649708 6649708 single base substitution G C downstream_gene_variant PACA-AU 1 6635134 6635138 deletion of <=200bp GATCC - upstream_gene_variant PACA-AU 1 6636603 6636603 single base substitution C A upstream_gene_variant PACA-AU 1 6639008 6639008 single base substitution G A upstream_gene_variant PACA-AU 1 6646758 6646758 single base substitution T C downstream_gene_variant PACA-AU 1 6646758 6646758 single base substitution T C exon_variant PACA-AU 1 6646758 6646758 single base substitution T C missense_variant F105L 313T>C PACA-AU 1 6646758 6646758 single base substitution T C missense_variant F350L 1048T>C PACA-AU 1 6646758 6646758 single base substitution T C upstream_gene_variant PACA-AU 1 6647427 6647427 single base substitution G A intron_variant PACA-AU 1 6647427 6647427 single base substitution G A upstream_gene_variant PACA-CA 1 6635475 6635475 single base substitution C A upstream_gene_variant PACA-CA 1 6637589 6637589 deletion of <=200bp A - upstream_gene_variant PACA-CA 1 6638311 6638311 single base substitution A C upstream_gene_variant PACA-CA 1 6638981 6638981 insertion of <=200bp - T upstream_gene_variant PACA-CA 1 6640783 6640783 single base substitution G A intron_variant PACA-CA 1 6640783 6640783 single base substitution G A synonymous_variant K38K 114G>A PACA-CA 1 6640783 6640783 single base substitution G A upstream_gene_variant PACA-CA 1 6649362 6649362 single base substitution C A downstream_gene_variant PACA-CA 1 6651516 6651516 single base substitution C T downstream_gene_variant PACA-CA 1 6653230 6653230 single base substitution C T downstream_gene_variant PACA-CA 1 6653368 6653368 single base substitution C T downstream_gene_variant PBCA-DE 1 6644661 6644661 single base substitution G A downstream_gene_variant PBCA-DE 1 6644661 6644661 single base substitution G A intron_variant PBCA-DE 1 6644661 6644661 single base substitution G A upstream_gene_variant PRAD-CA 1 6639865 6639865 single base substitution T C upstream_gene_variant PRAD-UK 1 6651084 6651084 single base substitution G A downstream_gene_variant PRAD-US 1 6648255 6648255 single base substitution A T downstream_gene_variant PRAD-US 1 6648255 6648255 single base substitution A T exon_variant PRAD-US 1 6648255 6648255 single base substitution A T missense_variant Q505H 1515A>T PRAD-US 1 6648255 6648255 single base substitution A T splice_region_variant PRAD-US 1 6648255 6648255 single base substitution A T upstream_gene_variant PRAD-US 1 6649154 6649154 single base substitution G A 3_prime_UTR_variant PRAD-US 1 6649154 6649154 single base substitution G A downstream_gene_variant PRAD-US 1 6649154 6649154 single base substitution G A exon_variant PRAD-US 1 6649154 6649154 single base substitution G A missense_variant G650D 1949G>A READ-US 1 6648899 6648899 single base substitution C T 3_prime_UTR_variant READ-US 1 6648899 6648899 single base substitution C T downstream_gene_variant READ-US 1 6648899 6648899 single base substitution C T exon_variant READ-US 1 6648899 6648899 single base substitution C T stop_gained R589* 1765C>T READ-US 1 6649065 6649065 single base substitution C T 3_prime_UTR_variant READ-US 1 6649065 6649065 single base substitution C T downstream_gene_variant READ-US 1 6649065 6649065 single base substitution C T exon_variant READ-US 1 6649065 6649065 single base substitution C T synonymous_variant D620D 1860C>T RECA-EU 1 6636429 6636429 single base substitution G C upstream_gene_variant RECA-EU 1 6639449 6639449 single base substitution C G upstream_gene_variant RECA-EU 1 6641923 6641923 single base substitution T A intron_variant RECA-EU 1 6641923 6641923 single base substitution T A upstream_gene_variant RECA-EU 1 6642246 6642246 single base substitution G T synonymous_variant A273A 819G>T RECA-EU 1 6642246 6642246 single base substitution G T synonymous_variant A28A 84G>T RECA-EU 1 6642246 6642246 single base substitution G T upstream_gene_variant SKCA-BR 1 6635816 6635816 single base substitution G C upstream_gene_variant SKCA-BR 1 6637189 6637189 single base substitution G A upstream_gene_variant SKCA-BR 1 6640010 6640010 single base substitution G A upstream_gene_variant SKCA-BR 1 6640111 6640111 single base substitution T G 5_prime_UTR_variant SKCA-BR 1 6640111 6640111 single base substitution T G splice_donor_variant SKCA-BR 1 6640111 6640111 single base substitution T G upstream_gene_variant SKCA-BR 1 6640132 6640132 single base substitution T G 5_prime_UTR_variant SKCA-BR 1 6640132 6640132 single base substitution T G intron_variant SKCA-BR 1 6640132 6640132 single base substitution T G splice_donor_variant SKCA-BR 1 6640132 6640132 single base substitution T G upstream_gene_variant SKCA-BR 1 6643836 6643837 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 1 6643836 6643837 deletion of <=200bp CT - intron_variant SKCA-BR 1 6643836 6643837 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 1 6645860 6645860 single base substitution A C downstream_gene_variant SKCA-BR 1 6645860 6645860 single base substitution A C exon_variant SKCA-BR 1 6645860 6645860 single base substitution A C intron_variant SKCA-BR 1 6645860 6645860 single base substitution A C upstream_gene_variant SKCA-BR 1 6648942 6648942 single base substitution T C downstream_gene_variant SKCA-BR 1 6648942 6648942 single base substitution T C exon_variant SKCA-BR 1 6648942 6648942 single base substitution T C intron_variant SKCA-BR 1 6651251 6651251 single base substitution T G downstream_gene_variant SKCM-US 1 6635077 6635077 single base substitution G A upstream_gene_variant SKCM-US 1 6635078 6635078 single base substitution G A upstream_gene_variant SKCM-US 1 6635361 6635361 single base substitution A G upstream_gene_variant SKCM-US 1 6635392 6635392 single base substitution C T upstream_gene_variant SKCM-US 1 6636587 6636587 single base substitution G A upstream_gene_variant SKCM-US 1 6639129 6639129 single base substitution C T upstream_gene_variant SKCM-US 1 6639206 6639206 single base substitution T G upstream_gene_variant SKCM-US 1 6639326 6639326 single base substitution C A upstream_gene_variant SKCM-US 1 6640826 6640826 single base substitution A G intron_variant SKCM-US 1 6640826 6640826 single base substitution A G missense_variant S53G 157A>G SKCM-US 1 6640826 6640826 single base substitution A G upstream_gene_variant SKCM-US 1 6640876 6640876 single base substitution C T intron_variant SKCM-US 1 6640876 6640876 single base substitution C T synonymous_variant F69F 207C>T SKCM-US 1 6640876 6640876 single base substitution C T upstream_gene_variant SKCM-US 1 6648404 6648405 deletion of <=200bp AG - downstream_gene_variant SKCM-US 1 6648404 6648405 deletion of <=200bp AG - exon_variant SKCM-US 1 6648404 6648405 deletion of <=200bp AG - frameshift_variant Q528 SKCM-US 1 6648404 6648405 deletion of <=200bp AG - upstream_gene_variant SKCM-US 1 6649172 6649172 single base substitution C T 3_prime_UTR_variant SKCM-US 1 6649172 6649172 single base substitution C T downstream_gene_variant SKCM-US 1 6649172 6649172 single base substitution C T exon_variant SKCM-US 1 6649172 6649172 single base substitution C T missense_variant P656L 1967C>T SKCM-US 1 6653669 6653669 single base substitution G A downstream_gene_variant SKCM-US 1 6653691 6653691 single base substitution G A downstream_gene_variant STAD-US 1 6636476 6636476 deletion of <=200bp T - upstream_gene_variant STAD-US 1 6636499 6636499 single base substitution C T upstream_gene_variant STAD-US 1 6637105 6637105 single base substitution G A upstream_gene_variant STAD-US 1 6639380 6639380 single base substitution G A upstream_gene_variant STAD-US 1 6640765 6640765 deletion of <=200bp G - frameshift_variant V32 STAD-US 1 6640765 6640765 deletion of <=200bp G - intron_variant STAD-US 1 6640765 6640765 deletion of <=200bp G - upstream_gene_variant STAD-US 1 6641353 6641353 single base substitution T C intron_variant STAD-US 1 6641353 6641353 single base substitution T C synonymous_variant S228S 684T>C STAD-US 1 6641353 6641353 single base substitution T C upstream_gene_variant STAD-US 1 6642155 6642155 single base substitution G A 5_prime_UTR_variant STAD-US 1 6642155 6642155 single base substitution G A missense_variant G243D 728G>A STAD-US 1 6642155 6642155 single base substitution G A upstream_gene_variant STAD-US 1 6646027 6646027 single base substitution T C downstream_gene_variant STAD-US 1 6646027 6646027 single base substitution T C exon_variant STAD-US 1 6646027 6646027 single base substitution T C synonymous_variant C327C 981T>C STAD-US 1 6646027 6646027 single base substitution T C synonymous_variant C82C 246T>C STAD-US 1 6646027 6646027 single base substitution T C upstream_gene_variant STAD-US 1 6647651 6647651 single base substitution G A exon_variant STAD-US 1 6647651 6647651 single base substitution G A synonymous_variant S201S 603G>A STAD-US 1 6647651 6647651 single base substitution G A synonymous_variant S446S 1338G>A STAD-US 1 6647651 6647651 single base substitution G A upstream_gene_variant STAD-US 1 6648463 6648463 single base substitution C T 3_prime_UTR_variant STAD-US 1 6648463 6648463 single base substitution C T downstream_gene_variant STAD-US 1 6648463 6648463 single base substitution C T exon_variant STAD-US 1 6648463 6648463 single base substitution C T missense_variant R548W 1642C>T STAD-US 1 6648463 6648463 single base substitution C T upstream_gene_variant STAD-US 1 6649079 6649079 single base substitution T C 3_prime_UTR_variant STAD-US 1 6649079 6649079 single base substitution T C downstream_gene_variant STAD-US 1 6649079 6649079 single base substitution T C exon_variant STAD-US 1 6649079 6649079 single base substitution T C missense_variant V625A 1874T>C STAD-US 1 6649173 6649173 single base substitution C T 3_prime_UTR_variant STAD-US 1 6649173 6649173 single base substitution C T downstream_gene_variant STAD-US 1 6649173 6649173 single base substitution C T exon_variant STAD-US 1 6649173 6649173 single base substitution C T synonymous_variant P656P 1968C>T STAD-US 1 6653565 6653567 deletion of <=200bp AGA - downstream_gene_variant STAD-US 1 6653646 6653646 single base substitution C A downstream_gene_variant STAD-US 1 6653683 6653683 deletion of <=200bp C - downstream_gene_variant THCA-US 1 6635194 6635194 single base substitution G A upstream_gene_variant UCEC-US 1 6638793 6638793 single base substitution T C upstream_gene_variant UCEC-US 1 6638795 6638795 single base substitution T G upstream_gene_variant UCEC-US 1 6638925 6638925 single base substitution C A upstream_gene_variant UCEC-US 1 6638968 6638968 single base substitution G A upstream_gene_variant UCEC-US 1 6639441 6639441 single base substitution G A upstream_gene_variant UCEC-US 1 6639530 6639530 single base substitution C T upstream_gene_variant UCEC-US 1 6639591 6639591 single base substitution G T upstream_gene_variant UCEC-US 1 6641117 6641117 single base substitution G T intron_variant UCEC-US 1 6641117 6641117 single base substitution G T stop_gained E150* 448G>T UCEC-US 1 6641117 6641117 single base substitution G T upstream_gene_variant UCEC-US 1 6641284 6641284 single base substitution G T intron_variant UCEC-US 1 6641284 6641284 single base substitution G T missense_variant K205N 615G>T UCEC-US 1 6641284 6641284 single base substitution G T upstream_gene_variant UCEC-US 1 6653508 6653508 single base substitution G A downstream_gene_variant UCEC-US 1 6653515 6653515 single base substitution C T downstream_gene_variant UCEC-US 1 6653606 6653606 single base substitution C T downstream_gene_variant UCEC-US 1 6653673 6653673 single base substitution C T downstream_gene_variant UCEC-US 1 6653713 6653713 single base substitution A G downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand B80-13-Tumor COSM3930849 c.1590C>T p.F530F Substitution - coding silent 1:6588351-6588351 + OSCC-GB_00240111 COSM3712163 c.1006G>C p.E336Q Substitution - Missense 1:6585992-6585992 + CSCC-7-T COSM4475321 c.197C>T p.P66L Substitution - Missense 1:6580806-6580806 + TCGA-BP-4341-01 COSM3360982 c.87T>A p.T29T Substitution - coding silent 1:6580696-6580696 + YUGATOR COSM5381425 c.483C>T p.P161P Substitution - coding silent 1:6581092-6581092 + SNU-175 COSM1343944 c.1454G>A p.R485H Substitution - Missense 1:6588134-6588134 + TCGA-22-5472-01 COSM682384 c.1686G>T p.V562V Substitution - coding silent 1:6588760-6588760 + ESCC_72 COSM5634235 c.1172A>G p.K391R Substitution - Missense 1:6587239-6587239 + KM12 COSM1667112 c.1970G>A p.G657D Substitution - Missense 1:6589115-6589115 + TCGA-A8-A07C-01 COSM426605 c.929A>G p.N310S Substitution - Missense 1:6582296-6582296 + PDA_095 COSM5003242 c.165C>A p.Y55* Substitution - Nonsense 1:6580774-6580774 + 407 COSM4430291 c.167G>A p.G56E Substitution - Missense 1:6580776-6580776 + TCGA-E9-A247-01 COSM1474151 c.94G>T p.V32L Substitution - Missense 1:6580703-6580703 + 824_T COSM3977821 c.1453C>T p.R485C Substitution - Missense 1:6588133-6588133 + TCGA-AM-5820-01 COSM3751366 c.2023T>G p.S675A Substitution - Missense 1:6589168-6589168 + TCGA-BR-8363-01 COSM4009492 c.1642C>T p.R548W Substitution - Missense 1:6588403-6588403 + PCSI_0078_Pa_P_526 COSM3377263 c.114G>A p.K38K Substitution - coding silent 1:6580723-6580723 + TCGA-BR-8487-01 COSM4009494 c.1968C>T p.P656P Substitution - coding silent 1:6589113-6589113 + CSCC-29-T COSM4521676 c.1125G>A p.E375E Substitution - coding silent 1:6586775-6586775 + HCC120 COSM3705989 c.1210C>T p.P404S Substitution - Missense 1:6587277-6587277 + TCGA-34-5929-01 COSM682385 c.773C>G p.S258* Substitution - Nonsense 1:6582140-6582140 + CCC2 COSM3705992 c.1468G>C p.E490Q Substitution - Missense 1:6588148-6588148 + TCGA-FS-A1ZC-06 COSM3491904 c.207C>T p.F69F Substitution - coding silent 1:6580816-6580816 + BD124T COSM5491014 c.435G>A p.P145P Substitution - coding silent 1:6581044-6581044 + RMS105_ COSM4986404 c.1604C>A p.P535H Substitution - Missense 1:6588365-6588365 + B104-0-Tumor COSM1748563 c.1114C>G p.H372D Substitution - Missense 1:6586764-6586764 + CRC-29T COSM5452212 c.560C>A p.S187Y Substitution - Missense 1:6581169-6581169 + CSCC-11-T COSM4561015 c.865G>A p.V289M Substitution - Missense 1:6582232-6582232 + PD8978a COSM5799519 c.1663T>C p.C555R Substitution - Missense 1:6588424-6588424 + GC_370T-GC_370N COSM4772872 c.1426C>A p.Q476K Substitution - Missense 1:6588106-6588106 + T3152 COSM4742200 c.177_178insG p.S62fs*10 Insertion - Frameshift 1:6580786-6580787 + TCGA-B7-5818-01 COSM4009490 c.981T>C p.C327C Substitution - coding silent 1:6585967-6585967 + SWE-53 COSM1180355 c.924C>G p.V308V Substitution - coding silent 1:6582291-6582291 + QC2-33-T2 COSM5654450 c.132T>C p.L44L Substitution - coding silent 1:6580741-6580741 + 8033523 COSM3386306 c.1048T>C p.F350L Substitution - Missense 1:6586698-6586698 + TCGA-J4-A67R-01 COSM4392153 c.1949G>A p.G650D Substitution - Missense 1:6589094-6589094 + B104-0 COSM1748563 c.1114C>G p.H372D Substitution - Missense 1:6586764-6586764 + KM12 COSM1667112 c.1970G>A p.G657D Substitution - Missense 1:6589115-6589115 + CCC2 COSM3705991 c.1446G>A p.M482I Substitution - Missense 1:6588126-6588126 + CCC2 COSM3705988 c.1055G>T p.C352F Substitution - Missense 1:6586705-6586705 + TCGA-BR-6452-01 COSM4009493 c.1874T>C p.V625A Substitution - Missense 1:6589019-6589019 + CCC2T COSM3705992 c.1468G>C p.E490Q Substitution - Missense 1:6588148-6588148 + TCGA-D5-6928-01 COSM1343944 c.1454G>A p.R485H Substitution - Missense 1:6588134-6588134 + TCGA-EE-A29S-06 COSM3491903 c.157A>G p.S53G Substitution - Missense 1:6580766-6580766 + PCSI_0078_Pa_X COSM3377263 c.114G>A p.K38K Substitution - coding silent 1:6580723-6580723 + cSCCP2 COSM137300 c.718G>T p.D240Y Substitution - Missense 1:6582085-6582085 + LUAD_E00522 COSM352930 c.2034C>G p.I678M Substitution - Missense 1:6589179-6589179 + 2290929 COSM4439788 c.2001C>T p.T667T Substitution - coding silent 1:6589146-6589146 + TCGA-F5-6465-01 COSM1560530 c.1765C>T p.R589* Substitution - Nonsense 1:6588839-6588839 + HOP-62 COSM1667110 c.266C>G p.S89* Substitution - Nonsense 1:6580875-6580875 + 23T COSM3711392 c.84C>T p.A28A Substitution - coding silent 1:6580693-6580693 + T2568 COSM4742202 c.1038G>A p.S346S Substitution - coding silent 1:6586024-6586024 + S00936 COSM316643 c.1063T>C p.C355R Substitution - Missense 1:6586713-6586713 + RKO COSM2239629 c.22_23delCA p.H8fs*30 Deletion - Frameshift 1:6580631-6580632 + TCGA-OL-A66I-01 COSM2239657 c.1538G>A p.R513H Substitution - Missense 1:6588299-6588299 + CCC2T COSM3705990 c.1272G>A p.L424L Substitution - coding silent 1:6587525-6587525 + SNU-175 COSM2239653 c.1275T>C p.H425H Substitution - coding silent 1:6587528-6587528 + Pat_41_B COSM5847214 c.8G>A p.G3D Substitution - Missense 1:6580617-6580617 + 24T COSM3712163 c.1006G>C p.E336Q Substitution - Missense 1:6585992-6585992 + CHC433T COSM217106 c.1823C>T p.P608L Substitution - Missense 1:6588968-6588968 + 587238 COSM1233165 c.596C>T p.P199L Substitution - Missense 1:6581205-6581205 + Au4 COSM5605377 c.546G>A p.Q182Q Substitution - coding silent 1:6581155-6581155 + CCC2 COSM3705990 c.1272G>A p.L424L Substitution - coding silent 1:6587525-6587525 + TCGA-AH-6897-01 COSM3419405 c.1860C>T p.D620D Substitution - coding silent 1:6589005-6589005 + ZZUFHECRKL-G072T COSM5432879 c.1060G>A p.V354M Substitution - Missense 1:6586710-6586710 + TCGA-AY-6196-01 COSM1343943 c.1233C>G p.T411T Substitution - coding silent 1:6587486-6587486 + TCGA-F1-A448-01 COSM4009489 c.684T>C p.S228S Substitution - coding silent 1:6581293-6581293 + HCC120T COSM3705989 c.1210C>T p.P404S Substitution - Missense 1:6587277-6587277 + QC2-33-T2 COSM5654451 c.133G>T p.A45S Substitution - Missense 1:6580742-6580742 + PD5945a COSM5785399 c.1108G>C p.V370L Substitution - Missense 1:6586758-6586758 + CADO-ES1 COSM2239651 c.1105A>G p.M369V Substitution - Missense 1:6586755-6586755 + ccRCC-62 COSM1665066 c.1087A>T p.M363L Substitution - Missense 1:6586737-6586737 + MD-292 COSM303594 c.985T>C p.F329L Substitution - Missense 1:6585971-6585971 + TCGA-D1-A17Q-01 COSM911655 c.615G>T p.K205N Substitution - Missense 1:6581224-6581224 + OSCC-GB_00230111 COSM3711392 c.84C>T p.A28A Substitution - coding silent 1:6580693-6580693 + ESCC_55 COSM5631613 c.15C>T p.F5F Substitution - coding silent 1:6580624-6580624 + CHC1035T COSM3667572 c.984C>T p.Y328Y Substitution - coding silent 1:6585970-6585970 + TCGA-25-2400-01 COSM116719 c.1191G>A p.M397I Substitution - Missense 1:6587258-6587258 + C0061T COSM4165285 c.819G>T p.A273A Substitution - coding silent 1:6582186-6582186 + PD4261a COSM5771425 c.1062G>A p.V354V Substitution - coding silent 1:6586712-6586712 + Patient_2_Relapse COSM5414980 c.562_563insA p.S188fs*16 Insertion - Frameshift 1:6581171-6581172 + TCGA-D3-A51F-06 COSM3491905 c.1967C>T p.P656L Substitution - Missense 1:6589112-6589112 + TCGA-BR-4184-01 COSM2239642 c.728G>A p.G243D Substitution - Missense 1:6582095-6582095 + CHC433T COSM217106 c.1823C>T p.P608L Substitution - Missense 1:6588968-6588968 + PT08_1 COSM5892677 c.1018C>T p.R340W Substitution - Missense 1:6586004-6586004 + RK091_C01 COSM1627154 c.1912T>A p.S638T Substitution - Missense 1:6589057-6589057 + CHEWS012 COSM4577531 c.419G>C p.S140T Substitution - Missense 1:6581028-6581028 + TCGA-BR-8680-01 COSM4009491 c.1338G>A p.S446S Substitution - coding silent 1:6587591-6587591 + LUAD-E00897 COSM364169 c.1913C>T p.S638L Substitution - Missense 1:6589058-6589058 + 410 COSM4430855 c.19C>T p.Q7* Substitution - Nonsense 1:6580628-6580628 + TCGA-A8-A08H-01 COSM426606 c.2020delC p.S675fs*>14 Deletion - Frameshift 1:6589165-6589165 + HCT-15 COSM1667111 c.1877T>C p.V626A Substitution - Missense 1:6589022-6589022 + TCGA-CA-6717-01 COSM1343945 c.1508G>A p.R503Q Substitution - Missense 1:6588188-6588188 + CHC1035T COSM3667572 c.984C>T p.Y328Y Substitution - coding silent 1:6585970-6585970 + TCGA-DK-A1A3-01 COSM414812 c.1990G>A p.E664K Substitution - Missense 1:6589135-6589135 + TCGA-AZ-6601-01 COSM1343946 c.1592C>T p.T531I Substitution - Missense 1:6588353-6588353 + TCGA-AX-A0J0-01 COSM911654 c.448G>T p.E150* Substitution - Nonsense 1:6581057-6581057 + T3080 COSM4742201 c.274C>T p.R92W Substitution - Missense 1:6580883-6580883 + CHC433T COSM217106 c.1823C>T p.P608L Substitution - Missense 1:6588968-6588968 + TCGA-G3-A25T-01 COSM4941589 c.1013A>G p.E338G Substitution - Missense 1:6585999-6585999 + CCC2T COSM3705988 c.1055G>T p.C352F Substitution - Missense 1:6586705-6586705 + HT115 COSM2239634 c.322G>A p.V108I Substitution - Missense 1:6580931-6580931 + TCGA-CW-5584-01 COSM464874 c.1767A>G p.R589R Substitution - coding silent 1:6588841-6588841 + PT08_2 COSM5892677 c.1018C>T p.R340W Substitution - Missense 1:6586004-6586004 + SC_9082 COSM5569579 c.762C>G p.T254T Substitution - coding silent 1:6582129-6582129 + HCT15 COSM1667111 c.1877T>C p.V626A Substitution - Missense 1:6589022-6589022 + AOCS-091-3-0 COSM3948625 c.614A>T p.K205M Substitution - Missense 1:6581223-6581223 + TCGA-EJ-7125-01 COSM3671810 c.1515A>T p.Q505H Substitution - Missense 1:6588195-6588195 + CCC2T COSM3705991 c.1446G>A p.M482I Substitution - Missense 1:6588126-6588126 + SWE-8 COSM1178692 c.120C>T p.H40H Substitution - coding silent 1:6580729-6580729 + LC_S19 COSM1185291 c.921A>T p.K307N Substitution - Missense 1:6582288-6582288 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.502330 1p36.3 165270 2425745|dbSNP|BC013573|C/T|coding|Pro656Pro|2041|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AG - Frameshift p.Q528Pfs*4 c.1583_1584delAG 1 6648404 CM A G Missense p.N310S c.929A>G 1 6642356 BRCA A G Missense p.S53G c.157A>G 1 6640826 CM CC TT Synonymous p.(=) c.2013_2014delinsTT 1 6649218 CM C - Frameshift p.S675Pfs*41 c.2022delC 1 6649225 BRCA C G Missense p.S371C c.1112C>G 1 6646822 HNSC C G Nonsense p.S258* c.773C>G 1 6642200 LUSC C T Missense p.P608L c.1823C>T 1 6649028 HC C T Missense p.R330W c.988C>T 1 6646034 CM C T Synonymous p.F69F c.207C>T 1 6640876 CM C T Synonymous p.F69F c.207C>T 1 6640876 LUAD G A Missense p.E664K c.1990G>A 1 6649195 BLCA G A Missense p.G650D c.1949G>A 1 6649154 PRAD G A Missense p.M397I c.1191G>A 1 6647318 OV G A Synonymous p.G191G c.573G>A 1 6641242 LUAD G A Synonymous p.P630P c.1890G>A 1 6649095 STAD G C Missense p.E598Q c.1792G>C 1 6648997 HNSC G T Missense p.R448L c.1343G>T 1 6647656 STAD G T Missense p.V32L c.94G>T 1 6640763 BRCA G T Synonymous p.V562V c.1686G>T 1 6648820 LUSC T A Synonymous p.T29T c.87T>A 1 6640756 RCCC TCCTCCTGCTCCC - Frameshift p.C383Sfs*11 c.1141_1153delTCCTCCTGCTCCC 1 6647268 RCCC T C Missense p.C355R c.1063T>C 1 6646773 SCLC T C Synonymous p.C327C c.981T>C 1 6646027 STAD TG - Frameshift p.C438*fs*1 c.1314_1315delTG 1 6647621 LUAD