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 17 54969173 54969173 + Missense_Mutation SNP G G T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 g.chr17:54969173G>T c.1781C>A c.(1780-1782)gCc>gAc p.A594D BLCA 17 54969498 54969498 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr17:54969498G>C c.1456C>G c.(1456-1458)Cag>Gag p.Q486E BLCA 17 54978835 54978835 + Silent SNP G G C TCGA-FD-A6TG-01A-11D-A32B-08 TCGA-FD-A6TG-10A-01D-A329-08 g.chr17:54978835G>C c.1032C>G c.(1030-1032)ctC>ctG p.L344L BLCA 17 54981706 54981706 + Silent SNP C C T TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr17:54981706C>T c.837G>A c.(835-837)caG>caA p.Q279Q BLCA 17 54985878 54985878 + Missense_Mutation SNP C C G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 g.chr17:54985878C>G c.644G>C c.(643-645)gGg>gCg p.G215A BLCA 17 54990864 54990864 + Silent SNP C C G TCGA-DK-AA6R-01A-11D-A42E-08 TCGA-DK-AA6R-10A-01D-A42H-08 g.chr17:54990864C>G c.486G>C c.(484-486)cgG>cgC p.R162R BLCA 17 54990865 54990865 + Missense_Mutation SNP C C A TCGA-DK-AA6R-01A-11D-A42E-08 TCGA-DK-AA6R-10A-01D-A42H-08 g.chr17:54990865C>A c.485G>T c.(484-486)cGg>cTg p.R162L BLCA 17 54990867 54990867 + Missense_Mutation SNP A A T TCGA-DK-AA6R-01A-11D-A42E-08 TCGA-DK-AA6R-10A-01D-A42H-08 g.chr17:54990867A>T c.483T>A c.(481-483)aaT>aaA p.N161K BLCA 17 54991060 54991060 + Missense_Mutation SNP G G A TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr17:54991060G>A c.290C>T c.(289-291)tCt>tTt p.S97F BLCA 17 54991173 54991173 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr17:54991173C>T c.177G>A c.(175-177)gcG>gcA p.A59A BLCA 17 54991298 54991298 + Missense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 g.chr17:54991298C>T c.52G>A c.(52-54)Gag>Aag p.E18K BRCA 17 54973303 54973303 + Missense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr17:54973303C>A c.1164G>T c.(1162-1164)aaG>aaT p.K388N BRCA 17 54978817 54978817 + Missense_Mutation SNP C C G TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 g.chr17:54978817C>G c.1050G>C c.(1048-1050)caG>caC p.Q350H BRCA 17 54981830 54981830 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr17:54981830A>C c.713T>G c.(712-714)gTg>gGg p.V238G BRCA 17 54990828 54990828 + Silent SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 g.chr17:54990828G>A c.522C>T c.(520-522)tgC>tgT p.C174C CESC 17 54969328 54969328 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr17:54969328G>A c.1626C>T c.(1624-1626)ctC>ctT p.L542L COAD 17 54969377 54969377 + Missense_Mutation SNP A A G TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr17:54969377A>G c.1577T>C c.(1576-1578)gTa>gCa p.V526A COAD 17 54969484 54969484 + Silent SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr17:54969484C>T c.1470G>A c.(1468-1470)ccG>ccA p.P490P COAD 17 54976525 54976525 + Silent SNP A A G TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr17:54976525A>G c.1104T>C c.(1102-1104)caT>caC p.H368H COAD 17 54981641 54981641 + Missense_Mutation SNP T T C TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr17:54981641T>C c.902A>G c.(901-903)aAg>aGg p.K301R COAD 17 54981641 54981641 + Missense_Mutation SNP T T C TCGA-D5-6537-01A-11D-1719-10 TCGA-D5-6537-10A-01D-1719-10 g.chr17:54981641T>C c.902A>G c.(901-903)aAg>aGg p.K301R COAD 17 54991282 54991282 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr17:54991282G>A c.68C>T c.(67-69)cCg>cTg p.P23L COADREAD 17 54969377 54969377 + Missense_Mutation SNP A A G TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr17:54969377A>G c.1577T>C c.(1576-1578)gTa>gCa p.V526A COADREAD 17 54969484 54969484 + Silent SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr17:54969484C>T c.1470G>A c.(1468-1470)ccG>ccA p.P490P COADREAD 17 54969505 54969505 + Missense_Mutation SNP C C A TCGA-AG-3742-01A-11D-1657-10 TCGA-AG-3742-11A-01D-1657-10 g.chr17:54969505C>A c.1449G>T c.(1447-1449)gaG>gaT p.E483D COADREAD 17 54976525 54976525 + Silent SNP A A G TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr17:54976525A>G c.1104T>C c.(1102-1104)caT>caC p.H368H COADREAD 17 54981641 54981641 + Missense_Mutation SNP T T C TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr17:54981641T>C c.902A>G c.(901-903)aAg>aGg p.K301R COADREAD 17 54981641 54981641 + Missense_Mutation SNP T T C TCGA-D5-6537-01A-11D-1719-10 TCGA-D5-6537-10A-01D-1719-10 g.chr17:54981641T>C c.902A>G c.(901-903)aAg>aGg p.K301R COADREAD 17 54991282 54991282 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr17:54991282G>A c.68C>T c.(67-69)cCg>cTg p.P23L DLBC 17 54969281 54969281 + Missense_Mutation SNP A A T TCGA-GS-A9TW-01A-11D-A382-10 TCGA-GS-A9TW-10A-01D-A385-10 g.chr17:54969281A>T c.1673T>A c.(1672-1674)aTc>aAc p.I558N ESCA 17 54978858 54978858 + Missense_Mutation SNP T T A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 g.chr17:54978858T>A c.1009A>T c.(1009-1011)Atc>Ttc p.I337F HNSC 17 54985903 54985903 + Missense_Mutation SNP T T C TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr17:54985903T>C c.619A>G c.(619-621)Act>Gct p.T207A HNSC 17 54990842 54990842 + Missense_Mutation SNP C C T TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr17:54990842C>T c.508G>A c.(508-510)Gag>Aag p.E170K HNSC 17 54990924 54990924 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 g.chr17:54990924G>A c.426C>T c.(424-426)gaC>gaT p.D142D KICH 17 54985879 54985879 + Missense_Mutation SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr17:54985879C>T c.643G>A c.(643-645)Ggg>Agg p.G215R KIPAN 17 54969126 54969126 + Missense_Mutation SNP C C G TCGA-MH-A55Z-01A-11D-A26P-10 TCGA-MH-A55Z-10A-01D-A26P-10 g.chr17:54969126C>G c.1828G>C c.(1828-1830)Gct>Cct p.A610P KIPAN 17 54981679 54981679 + Missense_Mutation SNP G G C TCGA-CJ-4640-01A-02D-1386-10 TCGA-CJ-4640-11A-01D-1251-10 g.chr17:54981679G>C c.864C>G c.(862-864)atC>atG p.I288M KIPAN 17 54985850 54985850 + Missense_Mutation SNP T T G TCGA-BP-4991-01A-01D-1462-08 TCGA-BP-4991-11A-01D-1462-08 g.chr17:54985850T>G c.672A>C c.(670-672)agA>agC p.R224S KIPAN 17 54985879 54985879 + Missense_Mutation SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr17:54985879C>T c.643G>A c.(643-645)Ggg>Agg p.G215R KIRC 17 54981679 54981679 + Missense_Mutation SNP G G C TCGA-CJ-4640-01A-02D-1386-10 TCGA-CJ-4640-11A-01D-1251-10 g.chr17:54981679G>C c.864C>G c.(862-864)atC>atG p.I288M KIRC 17 54985850 54985850 + Missense_Mutation SNP T T G TCGA-BP-4991-01A-01D-1462-08 TCGA-BP-4991-11A-01D-1462-08 g.chr17:54985850T>G c.672A>C c.(670-672)agA>agC p.R224S KIRP 17 54969126 54969126 + Missense_Mutation SNP C C G TCGA-MH-A55Z-01A-11D-A26P-10 TCGA-MH-A55Z-10A-01D-A26P-10 g.chr17:54969126C>G c.1828G>C c.(1828-1830)Gct>Cct p.A610P LIHC 17 54969476 54969476 + Missense_Mutation SNP T T C TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr17:54969476T>C c.1478A>G c.(1477-1479)cAg>cGg p.Q493R LIHC 17 54981763 54981763 + Silent SNP T T A TCGA-DD-AAC8-01A-11D-A40R-10 TCGA-DD-AAC8-10A-01D-A40U-10 g.chr17:54981763T>A c.780A>T c.(778-780)acA>acT p.T260T LIHC 17 54981814 54981814 + Missense_Mutation SNP T T G TCGA-CC-A8HU-01A-11D-A35Z-10 TCGA-CC-A8HU-10A-01D-A35Z-10 g.chr17:54981814T>G c.729A>C c.(727-729)caA>caC p.Q243H LUAD 17 54969240 54969240 + Missense_Mutation SNP T T G TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr17:54969240T>G c.1714A>C c.(1714-1716)Acc>Ccc p.T572P LUAD 17 54969300 54969300 + Nonsense_Mutation SNP C C A TCGA-55-A48X-01A-11D-A24D-08 TCGA-55-A48X-10A-01D-A24F-08 g.chr17:54969300C>A c.1654G>T c.(1654-1656)Gag>Tag p.E552* LUAD 17 54969341 54969341 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 g.chr17:54969341G>A c.1613C>T c.(1612-1614)cCa>cTa p.P538L LUAD 17 54978829 54978830 + Frame_Shift_Ins INS - - T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr17:54978829_54978830insT c.1037_1038insA c.(1036-1038)aacfs p.N346fs LUAD 17 54978862 54978862 + Frame_Shift_Del DEL T T - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 g.chr17:54978862delT c.1005delA c.(1003-1005)aaafs p.K335fs LUAD 17 54978923 54978923 + Missense_Mutation SNP C C A TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chr17:54978923C>A c.944G>T c.(943-945)cGa>cTa p.R315L LUAD 17 54990997 54990997 + Missense_Mutation SNP G G T TCGA-O1-A52J-01A-11D-A25L-08 TCGA-O1-A52J-10A-01D-A25L-08 g.chr17:54990997G>T c.353C>A c.(352-354)aCg>aAg p.T118K LUSC 17 54969227 54969227 + Missense_Mutation SNP C C G TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 g.chr17:54969227C>G c.1727G>C c.(1726-1728)cGg>cCg p.R576P LUSC 17 54969297 54969297 + Missense_Mutation SNP A A T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 g.chr17:54969297A>T c.1657T>A c.(1657-1659)Tgg>Agg p.W553R PAAD 17 54972919 54972919 + Silent SNP C C A TCGA-YB-A89D-01A-12D-A36O-08 TCGA-YB-A89D-10A-01D-A367-08 g.chr17:54972919C>A c.1227G>T c.(1225-1227)ccG>ccT p.P409P PAAD 17 54978862 54978862 + Frame_Shift_Del DEL T T - TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 g.chr17:54978862delT c.1005delA c.(1003-1005)aaafs p.K335fs PAAD 17 54978862 54978862 + Frame_Shift_Del DEL T T - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 g.chr17:54978862delT c.1005delA c.(1003-1005)aaafs p.K335fs PRAD 17 54969233 54969233 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:54969233G>A c.1721C>T c.(1720-1722)gCc>gTc p.A574V PRAD 17 54969322 54969322 + Silent SNP G G A TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 g.chr17:54969322G>A c.1632C>T c.(1630-1632)cgC>cgT p.R544R PRAD 17 54969543 54969543 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:54969543C>T c.1411G>A c.(1411-1413)Gct>Act p.A471T READ 17 54969505 54969505 + Missense_Mutation SNP C C A TCGA-AG-3742-01A-11D-1657-10 TCGA-AG-3742-11A-01D-1657-10 g.chr17:54969505C>A c.1449G>T c.(1447-1449)gaG>gaT p.E483D SKCM 17 54969117 54969117 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr17:54969117G>A c.1837C>T c.(1837-1839)Ccg>Tcg p.P613S SKCM 17 54969163 54969163 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr17:54969163G>A c.1791C>T c.(1789-1791)gtC>gtT p.V597V SKCM 17 54972922 54972922 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:54972922G>A c.1224C>T c.(1222-1224)gcC>gcT p.A408A SKCM 17 54990975 54990975 + Silent SNP G G A TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr17:54990975G>A c.375C>T c.(373-375)tcC>tcT p.S125S SKCM 17 54990976 54990976 + Missense_Mutation SNP G G A TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr17:54990976G>A c.374C>T c.(373-375)tCc>tTc p.S125F

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 17 54976475 54976475 single base substitution C T downstream_gene_variant BLCA-CN 17 54976475 54976475 single base substitution C T exon_variant BLCA-CN 17 54976475 54976475 single base substitution C T splice_donor_variant BLCA-CN 17 54976475 54976475 single base substitution C T upstream_gene_variant BLCA-US 17 54969173 54969173 single base substitution G T 3_prime_UTR_variant BLCA-US 17 54969173 54969173 single base substitution G T downstream_gene_variant BLCA-US 17 54969173 54969173 single base substitution G T missense_variant A594D 1781C>A BLCA-US 17 54969173 54969173 single base substitution G T upstream_gene_variant BLCA-US 17 54985878 54985878 single base substitution C G 3_prime_UTR_variant BLCA-US 17 54985878 54985878 single base substitution C G exon_variant BLCA-US 17 54985878 54985878 single base substitution C G missense_variant G215A 644G>C BLCA-US 17 54985878 54985878 single base substitution C G upstream_gene_variant BLCA-US 17 54991173 54991173 single base substitution C T synonymous_variant A59A 177G>A BLCA-US 17 54991173 54991173 single base substitution C T upstream_gene_variant BLCA-US 17 54991298 54991298 single base substitution C T missense_variant E18K 52G>A BLCA-US 17 54991298 54991298 single base substitution C T upstream_gene_variant BRCA-EU 17 54960427 54960427 single base substitution G A downstream_gene_variant BRCA-EU 17 54960846 54960846 single base substitution G A downstream_gene_variant BRCA-EU 17 54961485 54961485 single base substitution C A downstream_gene_variant BRCA-EU 17 54963181 54963181 single base substitution C A downstream_gene_variant BRCA-EU 17 54963629 54963629 single base substitution C G downstream_gene_variant BRCA-EU 17 54964167 54964167 single base substitution G C downstream_gene_variant BRCA-EU 17 54966891 54966891 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 54966891 54966891 single base substitution C T downstream_gene_variant BRCA-EU 17 54969330 54969330 single base substitution G C 3_prime_UTR_variant BRCA-EU 17 54969330 54969330 single base substitution G C downstream_gene_variant BRCA-EU 17 54969330 54969330 single base substitution G C missense_variant L542V 1624C>G BRCA-EU 17 54969330 54969330 single base substitution G C upstream_gene_variant BRCA-EU 17 54969350 54969350 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 54969350 54969350 single base substitution C T downstream_gene_variant BRCA-EU 17 54969350 54969350 single base substitution C T missense_variant R535Q 1604G>A BRCA-EU 17 54969350 54969350 single base substitution C T upstream_gene_variant BRCA-EU 17 54969423 54969423 single base substitution T G 3_prime_UTR_variant BRCA-EU 17 54969423 54969423 single base substitution T G downstream_gene_variant BRCA-EU 17 54969423 54969423 single base substitution T G missense_variant I511L 1531A>C BRCA-EU 17 54969423 54969423 single base substitution T G upstream_gene_variant BRCA-EU 17 54970110 54970110 single base substitution T C downstream_gene_variant BRCA-EU 17 54970110 54970110 single base substitution T C intron_variant BRCA-EU 17 54970110 54970110 single base substitution T C upstream_gene_variant BRCA-EU 17 54970834 54970834 single base substitution G A downstream_gene_variant BRCA-EU 17 54970834 54970834 single base substitution G A intron_variant BRCA-EU 17 54970834 54970834 single base substitution G A upstream_gene_variant BRCA-EU 17 54971449 54971449 single base substitution G A downstream_gene_variant BRCA-EU 17 54971449 54971449 single base substitution G A intron_variant BRCA-EU 17 54971449 54971449 single base substitution G A upstream_gene_variant BRCA-EU 17 54973361 54973361 single base substitution A T downstream_gene_variant BRCA-EU 17 54973361 54973361 single base substitution A T intron_variant BRCA-EU 17 54973361 54973361 single base substitution A T upstream_gene_variant BRCA-EU 17 54973465 54973465 single base substitution C G downstream_gene_variant BRCA-EU 17 54973465 54973465 single base substitution C G intron_variant BRCA-EU 17 54973465 54973465 single base substitution C G upstream_gene_variant BRCA-EU 17 54973694 54973694 single base substitution C T downstream_gene_variant BRCA-EU 17 54973694 54973694 single base substitution C T intron_variant BRCA-EU 17 54973694 54973694 single base substitution C T upstream_gene_variant BRCA-EU 17 54977286 54977286 single base substitution T A downstream_gene_variant BRCA-EU 17 54977286 54977286 single base substitution T A intron_variant BRCA-EU 17 54977286 54977286 single base substitution T A upstream_gene_variant BRCA-EU 17 54977607 54977607 single base substitution G A downstream_gene_variant BRCA-EU 17 54977607 54977607 single base substitution G A intron_variant BRCA-EU 17 54977607 54977607 single base substitution G A upstream_gene_variant BRCA-EU 17 54978194 54978194 single base substitution G A downstream_gene_variant BRCA-EU 17 54978194 54978194 single base substitution G A intron_variant BRCA-EU 17 54978596 54978596 single base substitution C A downstream_gene_variant BRCA-EU 17 54978596 54978596 single base substitution C A intron_variant BRCA-EU 17 54979560 54979560 single base substitution C T intron_variant BRCA-EU 17 54981167 54981167 single base substitution G T downstream_gene_variant BRCA-EU 17 54981167 54981167 single base substitution G T intron_variant BRCA-EU 17 54981287 54981287 single base substitution G A downstream_gene_variant BRCA-EU 17 54981287 54981287 single base substitution G A intron_variant BRCA-EU 17 54982029 54982029 single base substitution A T downstream_gene_variant BRCA-EU 17 54982029 54982029 single base substitution A T intron_variant BRCA-EU 17 54982029 54982029 single base substitution A T upstream_gene_variant BRCA-EU 17 54983311 54983311 single base substitution G T downstream_gene_variant BRCA-EU 17 54983311 54983311 single base substitution G T intron_variant BRCA-EU 17 54983311 54983311 single base substitution G T upstream_gene_variant BRCA-EU 17 54986835 54986835 single base substitution C T intron_variant BRCA-EU 17 54986835 54986835 single base substitution C T upstream_gene_variant BRCA-EU 17 54987411 54987411 single base substitution G A intron_variant BRCA-EU 17 54987411 54987411 single base substitution G A upstream_gene_variant BRCA-EU 17 54987769 54987769 single base substitution C A intron_variant BRCA-EU 17 54987769 54987769 single base substitution C A upstream_gene_variant BRCA-EU 17 54987913 54987913 single base substitution T C intron_variant BRCA-EU 17 54987913 54987913 single base substitution T C upstream_gene_variant BRCA-EU 17 54988206 54988206 single base substitution G A intron_variant BRCA-EU 17 54988206 54988206 single base substitution G A upstream_gene_variant BRCA-EU 17 54989408 54989408 insertion of <=200bp - A intron_variant BRCA-EU 17 54989408 54989408 insertion of <=200bp - A upstream_gene_variant BRCA-EU 17 54989915 54989915 single base substitution G A intron_variant BRCA-EU 17 54989915 54989915 single base substitution G A upstream_gene_variant BRCA-EU 17 54990936 54990936 single base substitution G A synonymous_variant P138P 414C>T BRCA-EU 17 54990936 54990936 single base substitution G A upstream_gene_variant BRCA-EU 17 54990938 54990938 single base substitution G C missense_variant P138A 412C>G BRCA-EU 17 54990938 54990938 single base substitution G C upstream_gene_variant BRCA-EU 17 54991422 54991422 single base substitution G C upstream_gene_variant BRCA-EU 17 54991522 54991522 single base substitution G C upstream_gene_variant BRCA-EU 17 54991676 54991676 single base substitution C A upstream_gene_variant BRCA-EU 17 54991730 54991730 single base substitution A G upstream_gene_variant BRCA-EU 17 54992469 54992469 deletion of <=200bp G - upstream_gene_variant BRCA-EU 17 54992884 54992884 single base substitution C G upstream_gene_variant BRCA-EU 17 54994772 54994772 single base substitution G A upstream_gene_variant BRCA-EU 17 54994789 54994789 single base substitution G C upstream_gene_variant BRCA-EU 17 54995243 54995243 single base substitution T G upstream_gene_variant BRCA-EU 17 54995532 54995532 insertion of <=200bp - A upstream_gene_variant BRCA-EU 17 54995667 54995667 single base substitution T G upstream_gene_variant BRCA-EU 17 54995729 54995729 single base substitution G A upstream_gene_variant BRCA-EU 17 54996276 54996276 single base substitution T A upstream_gene_variant BRCA-FR 17 54960427 54960427 single base substitution G A downstream_gene_variant BRCA-FR 17 54960846 54960846 single base substitution G A downstream_gene_variant BRCA-FR 17 54964782 54964782 single base substitution G C downstream_gene_variant BRCA-FR 17 54969498 54969498 single base substitution G A 3_prime_UTR_variant BRCA-FR 17 54969498 54969498 single base substitution G A downstream_gene_variant BRCA-FR 17 54969498 54969498 single base substitution G A exon_variant BRCA-FR 17 54969498 54969498 single base substitution G A stop_gained Q486* 1456C>T BRCA-FR 17 54969498 54969498 single base substitution G A upstream_gene_variant BRCA-FR 17 54972843 54972843 single base substitution G C downstream_gene_variant BRCA-FR 17 54972843 54972843 single base substitution G C intron_variant BRCA-FR 17 54972843 54972843 single base substitution G C upstream_gene_variant BRCA-FR 17 54973465 54973465 single base substitution C G downstream_gene_variant BRCA-FR 17 54973465 54973465 single base substitution C G intron_variant BRCA-FR 17 54973465 54973465 single base substitution C G upstream_gene_variant BRCA-FR 17 54981167 54981167 single base substitution G T downstream_gene_variant BRCA-FR 17 54981167 54981167 single base substitution G T intron_variant BRCA-FR 17 54983311 54983311 single base substitution G T downstream_gene_variant BRCA-FR 17 54983311 54983311 single base substitution G T intron_variant BRCA-FR 17 54983311 54983311 single base substitution G T upstream_gene_variant BRCA-FR 17 54987411 54987411 single base substitution G A intron_variant BRCA-FR 17 54987411 54987411 single base substitution G A upstream_gene_variant BRCA-KR 17 54978857 54978857 single base substitution A G 3_prime_UTR_variant BRCA-KR 17 54978857 54978857 single base substitution A G exon_variant BRCA-KR 17 54978857 54978857 single base substitution A G missense_variant I337T 1010T>C BRCA-UK 17 54977607 54977607 single base substitution G A downstream_gene_variant BRCA-UK 17 54977607 54977607 single base substitution G A intron_variant BRCA-UK 17 54977607 54977607 single base substitution G A upstream_gene_variant BRCA-UK 17 54981640 54981640 single base substitution C G 3_prime_UTR_variant BRCA-UK 17 54981640 54981640 single base substitution C G downstream_gene_variant BRCA-UK 17 54981640 54981640 single base substitution C G exon_variant BRCA-UK 17 54981640 54981640 single base substitution C G missense_variant K301N 903G>C BRCA-UK 17 54982029 54982029 single base substitution A T downstream_gene_variant BRCA-UK 17 54982029 54982029 single base substitution A T intron_variant BRCA-UK 17 54982029 54982029 single base substitution A T upstream_gene_variant BRCA-UK 17 54988206 54988206 single base substitution G A intron_variant BRCA-UK 17 54988206 54988206 single base substitution G A upstream_gene_variant BRCA-UK 17 54995243 54995243 single base substitution T G upstream_gene_variant BRCA-US 17 54973303 54973303 single base substitution C A 3_prime_UTR_variant BRCA-US 17 54973303 54973303 single base substitution C A downstream_gene_variant BRCA-US 17 54973303 54973303 single base substitution C A exon_variant BRCA-US 17 54973303 54973303 single base substitution C A missense_variant K388N 1164G>T BRCA-US 17 54973303 54973303 single base substitution C A upstream_gene_variant BRCA-US 17 54978817 54978817 single base substitution C G 3_prime_UTR_variant BRCA-US 17 54978817 54978817 single base substitution C G exon_variant BRCA-US 17 54978817 54978817 single base substitution C G missense_variant Q350H 1050G>C BRCA-US 17 54981830 54981830 single base substitution A C 3_prime_UTR_variant BRCA-US 17 54981830 54981830 single base substitution A C downstream_gene_variant BRCA-US 17 54981830 54981830 single base substitution A C exon_variant BRCA-US 17 54981830 54981830 single base substitution A C missense_variant V238G 713T>G BRCA-US 17 54981830 54981830 single base substitution A C upstream_gene_variant BRCA-US 17 54990828 54990828 single base substitution G A exon_variant BRCA-US 17 54990828 54990828 single base substitution G A synonymous_variant C174C 522C>T BRCA-US 17 54990828 54990828 single base substitution G A upstream_gene_variant BTCA-JP 17 54978828 54978828 single base substitution C T 3_prime_UTR_variant BTCA-JP 17 54978828 54978828 single base substitution C T exon_variant BTCA-JP 17 54978828 54978828 single base substitution C T missense_variant E347K 1039G>A BTCA-JP 17 54985894 54985894 single base substitution A G 3_prime_UTR_variant BTCA-JP 17 54985894 54985894 single base substitution A G exon_variant BTCA-JP 17 54985894 54985894 single base substitution A G missense_variant Y210H 628T>C BTCA-JP 17 54985894 54985894 single base substitution A G upstream_gene_variant CESC-US 17 54968690 54968690 single base substitution C T 3_prime_UTR_variant CESC-US 17 54968690 54968690 single base substitution C T downstream_gene_variant CESC-US 17 54968690 54968690 single base substitution C T intron_variant CESC-US 17 54969328 54969328 single base substitution G A 3_prime_UTR_variant CESC-US 17 54969328 54969328 single base substitution G A downstream_gene_variant CESC-US 17 54969328 54969328 single base substitution G A synonymous_variant L542L 1626C>T CESC-US 17 54969328 54969328 single base substitution G A upstream_gene_variant CLLE-ES 17 54977587 54977587 single base substitution A T downstream_gene_variant CLLE-ES 17 54977587 54977587 single base substitution A T intron_variant CLLE-ES 17 54977587 54977587 single base substitution A T upstream_gene_variant CLLE-ES 17 54988664 54988664 single base substitution C T intron_variant CLLE-ES 17 54988664 54988664 single base substitution C T upstream_gene_variant COCA-CN 17 54969394 54969394 single base substitution C A 3_prime_UTR_variant COCA-CN 17 54969394 54969394 single base substitution C A downstream_gene_variant COCA-CN 17 54969394 54969394 single base substitution C A missense_variant K520N 1560G>T COCA-CN 17 54969394 54969394 single base substitution C A upstream_gene_variant COCA-CN 17 54972728 54972728 single base substitution T C 3_prime_UTR_variant COCA-CN 17 54972728 54972728 single base substitution T C downstream_gene_variant COCA-CN 17 54972728 54972728 single base substitution T C exon_variant COCA-CN 17 54972728 54972728 single base substitution T C missense_variant K447E 1339A>G COCA-CN 17 54972728 54972728 single base substitution T C upstream_gene_variant COCA-CN 17 54976496 54976496 single base substitution C T 3_prime_UTR_variant COCA-CN 17 54976496 54976496 single base substitution C T downstream_gene_variant COCA-CN 17 54976496 54976496 single base substitution C T exon_variant COCA-CN 17 54976496 54976496 single base substitution C T missense_variant R378H 1133G>A COCA-CN 17 54976496 54976496 single base substitution C T upstream_gene_variant COCA-CN 17 54981573 54981573 single base substitution A C downstream_gene_variant COCA-CN 17 54981573 54981573 single base substitution A C intron_variant COCA-CN 17 54981711 54981711 single base substitution A C 3_prime_UTR_variant COCA-CN 17 54981711 54981711 single base substitution A C downstream_gene_variant COCA-CN 17 54981711 54981711 single base substitution A C exon_variant COCA-CN 17 54981711 54981711 single base substitution A C missense_variant Y278D 832T>G COCA-CN 17 54981711 54981711 single base substitution A C upstream_gene_variant COCA-CN 17 54990684 54990684 single base substitution C A intron_variant COCA-CN 17 54990684 54990684 single base substitution C A upstream_gene_variant COCA-CN 17 54990694 54990694 single base substitution C T intron_variant COCA-CN 17 54990694 54990694 single base substitution C T upstream_gene_variant COCA-CN 17 54991136 54991136 single base substitution C A missense_variant V72L 214G>T COCA-CN 17 54991136 54991136 single base substitution C A upstream_gene_variant COCA-CN 17 54991137 54991137 single base substitution G A synonymous_variant N71N 213C>T COCA-CN 17 54991137 54991137 single base substitution G A upstream_gene_variant EOPC-DE 17 54961427 54961427 single base substitution A G downstream_gene_variant EOPC-DE 17 54976207 54976207 single base substitution G A downstream_gene_variant EOPC-DE 17 54976207 54976207 single base substitution G A intron_variant EOPC-DE 17 54976207 54976207 single base substitution G A upstream_gene_variant EOPC-DE 17 54987443 54987443 single base substitution C T intron_variant EOPC-DE 17 54987443 54987443 single base substitution C T upstream_gene_variant ESAD-UK 17 54960485 54960485 single base substitution C T downstream_gene_variant ESAD-UK 17 54960537 54960537 single base substitution C T downstream_gene_variant ESAD-UK 17 54965654 54965654 single base substitution T C 3_prime_UTR_variant ESAD-UK 17 54965654 54965654 single base substitution T C downstream_gene_variant ESAD-UK 17 54966323 54966323 single base substitution G A 3_prime_UTR_variant ESAD-UK 17 54966323 54966323 single base substitution G A downstream_gene_variant ESAD-UK 17 54969517 54969517 single base substitution A C 3_prime_UTR_variant ESAD-UK 17 54969517 54969517 single base substitution A C downstream_gene_variant ESAD-UK 17 54969517 54969517 single base substitution A C exon_variant ESAD-UK 17 54969517 54969517 single base substitution A C synonymous_variant A479A 1437T>G ESAD-UK 17 54969517 54969517 single base substitution A C upstream_gene_variant ESAD-UK 17 54971538 54971538 single base substitution T C downstream_gene_variant ESAD-UK 17 54971538 54971538 single base substitution T C intron_variant ESAD-UK 17 54971538 54971538 single base substitution T C upstream_gene_variant ESAD-UK 17 54975004 54975004 single base substitution G A downstream_gene_variant ESAD-UK 17 54975004 54975004 single base substitution G A intron_variant ESAD-UK 17 54975004 54975004 single base substitution G A upstream_gene_variant ESAD-UK 17 54979469 54979469 single base substitution T A intron_variant ESAD-UK 17 54981519 54981519 single base substitution C T downstream_gene_variant ESAD-UK 17 54981519 54981519 single base substitution C T intron_variant ESAD-UK 17 54988316 54988316 single base substitution C T intron_variant ESAD-UK 17 54988316 54988316 single base substitution C T upstream_gene_variant ESAD-UK 17 54992169 54992169 single base substitution T G upstream_gene_variant ESAD-UK 17 54992469 54992469 insertion of <=200bp - G upstream_gene_variant ESAD-UK 17 54993460 54993460 single base substitution G A upstream_gene_variant ESAD-UK 17 54995358 54995358 single base substitution C G upstream_gene_variant KIRC-US 17 54981679 54981679 single base substitution G C 3_prime_UTR_variant KIRC-US 17 54981679 54981679 single base substitution G C downstream_gene_variant KIRC-US 17 54981679 54981679 single base substitution G C exon_variant KIRC-US 17 54981679 54981679 single base substitution G C missense_variant I288M 864C>G KIRC-US 17 54985850 54985850 single base substitution T G 3_prime_UTR_variant KIRC-US 17 54985850 54985850 single base substitution T G exon_variant KIRC-US 17 54985850 54985850 single base substitution T G missense_variant R224S 672A>C KIRC-US 17 54985850 54985850 single base substitution T G upstream_gene_variant KIRP-US 17 54969126 54969126 single base substitution C G 3_prime_UTR_variant KIRP-US 17 54969126 54969126 single base substitution C G downstream_gene_variant KIRP-US 17 54969126 54969126 single base substitution C G missense_variant A610P 1828G>C KIRP-US 17 54969126 54969126 single base substitution C G upstream_gene_variant LICA-FR 17 54965045 54965045 single base substitution C G downstream_gene_variant LICA-FR 17 54972800 54972800 single base substitution C A downstream_gene_variant LICA-FR 17 54972800 54972800 single base substitution C A missense_variant A423S 1267G>T LICA-FR 17 54972800 54972800 single base substitution C A splice_region_variant LICA-FR 17 54972800 54972800 single base substitution C A upstream_gene_variant LICA-FR 17 54981796 54981796 single base substitution C T 3_prime_UTR_variant LICA-FR 17 54981796 54981796 single base substitution C T downstream_gene_variant LICA-FR 17 54981796 54981796 single base substitution C T exon_variant LICA-FR 17 54981796 54981796 single base substitution C T synonymous_variant K249K 747G>A LICA-FR 17 54981796 54981796 single base substitution C T upstream_gene_variant LINC-JP 17 54967947 54967947 single base substitution T C 3_prime_UTR_variant LINC-JP 17 54967947 54967947 single base substitution T C downstream_gene_variant LINC-JP 17 54967947 54967947 single base substitution T C exon_variant LINC-JP 17 54968451 54968451 single base substitution A G 3_prime_UTR_variant LINC-JP 17 54968451 54968451 single base substitution A G downstream_gene_variant LINC-JP 17 54968451 54968451 single base substitution A G exon_variant LINC-JP 17 54969357 54969357 single base substitution T A 3_prime_UTR_variant LINC-JP 17 54969357 54969357 single base substitution T A downstream_gene_variant LINC-JP 17 54969357 54969357 single base substitution T A missense_variant M533L 1597A>T LINC-JP 17 54969357 54969357 single base substitution T A upstream_gene_variant LINC-JP 17 54970450 54970450 single base substitution G A downstream_gene_variant LINC-JP 17 54970450 54970450 single base substitution G A intron_variant LINC-JP 17 54970450 54970450 single base substitution G A upstream_gene_variant LINC-JP 17 54973337 54973337 single base substitution T C downstream_gene_variant LINC-JP 17 54973337 54973337 single base substitution T C intron_variant LINC-JP 17 54973337 54973337 single base substitution T C upstream_gene_variant LINC-JP 17 54981572 54981572 deletion of <=200bp A - downstream_gene_variant LINC-JP 17 54981572 54981572 deletion of <=200bp A - intron_variant LINC-JP 17 54984196 54984196 single base substitution A G downstream_gene_variant LINC-JP 17 54984196 54984196 single base substitution A G intron_variant LINC-JP 17 54984196 54984196 single base substitution A G upstream_gene_variant LINC-JP 17 54987673 54987673 single base substitution G A intron_variant LINC-JP 17 54987673 54987673 single base substitution G A upstream_gene_variant LINC-JP 17 54991171 54991171 single base substitution C G missense_variant R60P 179G>C LINC-JP 17 54991171 54991171 single base substitution C G upstream_gene_variant LINC-JP 17 54994401 54994401 deletion of <=200bp G - upstream_gene_variant LINC-JP 17 54995263 54995263 single base substitution A T upstream_gene_variant LIRI-JP 17 54963057 54963057 single base substitution G A downstream_gene_variant LIRI-JP 17 54963808 54963808 single base substitution T C downstream_gene_variant LIRI-JP 17 54967527 54967527 single base substitution C A 3_prime_UTR_variant LIRI-JP 17 54967527 54967527 single base substitution C A downstream_gene_variant LIRI-JP 17 54967536 54967536 single base substitution T C 3_prime_UTR_variant LIRI-JP 17 54967536 54967536 single base substitution T C downstream_gene_variant LIRI-JP 17 54967861 54967861 single base substitution T C 3_prime_UTR_variant LIRI-JP 17 54967861 54967861 single base substitution T C downstream_gene_variant LIRI-JP 17 54968616 54968616 single base substitution T C 3_prime_UTR_variant LIRI-JP 17 54968616 54968616 single base substitution T C downstream_gene_variant LIRI-JP 17 54968616 54968616 single base substitution T C exon_variant LIRI-JP 17 54968779 54968779 insertion of <=200bp - CTGCCCAG 3_prime_UTR_variant LIRI-JP 17 54968779 54968779 insertion of <=200bp - CTGCCCAG downstream_gene_variant LIRI-JP 17 54968779 54968779 insertion of <=200bp - CTGCCCAG exon_variant LIRI-JP 17 54977958 54977958 single base substitution A T downstream_gene_variant LIRI-JP 17 54977958 54977958 single base substitution A T intron_variant LIRI-JP 17 54977958 54977958 single base substitution A T upstream_gene_variant LIRI-JP 17 54983121 54983121 single base substitution C A downstream_gene_variant LIRI-JP 17 54983121 54983121 single base substitution C A intron_variant LIRI-JP 17 54983121 54983121 single base substitution C A upstream_gene_variant LIRI-JP 17 54985886 54985886 single base substitution C T 3_prime_UTR_variant LIRI-JP 17 54985886 54985886 single base substitution C T exon_variant LIRI-JP 17 54985886 54985886 single base substitution C T synonymous_variant Q212Q 636G>A LIRI-JP 17 54985886 54985886 single base substitution C T upstream_gene_variant LIRI-JP 17 54988446 54988446 single base substitution T C intron_variant LIRI-JP 17 54988446 54988446 single base substitution T C upstream_gene_variant LIRI-JP 17 54990733 54990733 single base substitution C A intron_variant LIRI-JP 17 54990733 54990733 single base substitution C A upstream_gene_variant LIRI-JP 17 54992098 54992098 single base substitution C T upstream_gene_variant LIRI-JP 17 54993211 54993211 single base substitution G C upstream_gene_variant LUSC-KR 17 54960442 54960442 single base substitution G C downstream_gene_variant LUSC-KR 17 54979078 54979078 single base substitution G T intron_variant LUSC-KR 17 54981355 54981355 single base substitution G A downstream_gene_variant LUSC-KR 17 54981355 54981355 single base substitution G A intron_variant LUSC-KR 17 54996087 54996087 single base substitution G T upstream_gene_variant LUSC-US 17 54969227 54969227 single base substitution C G 3_prime_UTR_variant LUSC-US 17 54969227 54969227 single base substitution C G downstream_gene_variant LUSC-US 17 54969227 54969227 single base substitution C G missense_variant R576P 1727G>C LUSC-US 17 54969227 54969227 single base substitution C G upstream_gene_variant LUSC-US 17 54969297 54969297 single base substitution A T 3_prime_UTR_variant LUSC-US 17 54969297 54969297 single base substitution A T downstream_gene_variant LUSC-US 17 54969297 54969297 single base substitution A T missense_variant W553R 1657T>A LUSC-US 17 54969297 54969297 single base substitution A T upstream_gene_variant MALY-DE 17 54964684 54964685 deletion of <=200bp CA - downstream_gene_variant MALY-DE 17 54968138 54968138 single base substitution G A 3_prime_UTR_variant MALY-DE 17 54968138 54968138 single base substitution G A downstream_gene_variant MALY-DE 17 54968138 54968138 single base substitution G A exon_variant MALY-DE 17 54973975 54973975 single base substitution A C downstream_gene_variant MALY-DE 17 54973975 54973975 single base substitution A C intron_variant MALY-DE 17 54973975 54973975 single base substitution A C upstream_gene_variant MALY-DE 17 54976631 54976631 single base substitution G A downstream_gene_variant MALY-DE 17 54976631 54976631 single base substitution G A intron_variant MALY-DE 17 54976631 54976631 single base substitution G A upstream_gene_variant MALY-DE 17 54988505 54988505 single base substitution T C intron_variant MALY-DE 17 54988505 54988505 single base substitution T C upstream_gene_variant MALY-DE 17 54995567 54995567 single base substitution A C upstream_gene_variant MELA-AU 17 54960449 54960449 single base substitution G A downstream_gene_variant MELA-AU 17 54960570 54960570 single base substitution G A downstream_gene_variant MELA-AU 17 54960729 54960729 single base substitution G A downstream_gene_variant MELA-AU 17 54960895 54960895 single base substitution A G downstream_gene_variant MELA-AU 17 54961351 54961352 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 54961598 54961598 single base substitution G A downstream_gene_variant MELA-AU 17 54961690 54961690 single base substitution G C downstream_gene_variant MELA-AU 17 54961958 54961958 single base substitution C T downstream_gene_variant MELA-AU 17 54962069 54962069 single base substitution G A downstream_gene_variant MELA-AU 17 54962074 54962074 single base substitution G C downstream_gene_variant MELA-AU 17 54962754 54962754 single base substitution G C downstream_gene_variant MELA-AU 17 54962988 54962988 single base substitution A C downstream_gene_variant MELA-AU 17 54963233 54963233 single base substitution G A downstream_gene_variant MELA-AU 17 54963605 54963605 single base substitution G A downstream_gene_variant MELA-AU 17 54963672 54963672 single base substitution G A downstream_gene_variant MELA-AU 17 54964034 54964034 single base substitution G A downstream_gene_variant MELA-AU 17 54964146 54964146 single base substitution G A downstream_gene_variant MELA-AU 17 54964164 54964164 single base substitution G A downstream_gene_variant MELA-AU 17 54964190 54964190 single base substitution G A downstream_gene_variant MELA-AU 17 54964298 54964298 single base substitution G A downstream_gene_variant MELA-AU 17 54965297 54965298 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 17 54965297 54965298 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 54965298 54965298 single base substitution G A 3_prime_UTR_variant MELA-AU 17 54965298 54965298 single base substitution G A downstream_gene_variant MELA-AU 17 54965327 54965327 single base substitution G T 3_prime_UTR_variant MELA-AU 17 54965327 54965327 single base substitution G T downstream_gene_variant MELA-AU 17 54965345 54965345 single base substitution G A 3_prime_UTR_variant MELA-AU 17 54965345 54965345 single base substitution G A downstream_gene_variant MELA-AU 17 54965779 54965779 single base substitution G T 3_prime_UTR_variant MELA-AU 17 54965779 54965779 single base substitution G T downstream_gene_variant MELA-AU 17 54965903 54965903 single base substitution A T 3_prime_UTR_variant MELA-AU 17 54965903 54965903 single base substitution A T downstream_gene_variant MELA-AU 17 54965918 54965918 single base substitution G A 3_prime_UTR_variant MELA-AU 17 54965918 54965918 single base substitution G A downstream_gene_variant MELA-AU 17 54966457 54966457 single base substitution G A 3_prime_UTR_variant MELA-AU 17 54966457 54966457 single base substitution G A downstream_gene_variant MELA-AU 17 54967471 54967471 single base substitution G A 3_prime_UTR_variant MELA-AU 17 54967471 54967471 single base substitution G A downstream_gene_variant MELA-AU 17 54968745 54968745 single base substitution G A 3_prime_UTR_variant MELA-AU 17 54968745 54968745 single base substitution G A downstream_gene_variant MELA-AU 17 54968745 54968745 single base substitution G A exon_variant MELA-AU 17 54968818 54968818 single base substitution T C 3_prime_UTR_variant MELA-AU 17 54968818 54968818 single base substitution T C downstream_gene_variant MELA-AU 17 54968818 54968818 single base substitution T C exon_variant MELA-AU 17 54968853 54968853 single base substitution G A 3_prime_UTR_variant MELA-AU 17 54968853 54968853 single base substitution G A downstream_gene_variant MELA-AU 17 54968853 54968853 single base substitution G A exon_variant MELA-AU 17 54969163 54969163 single base substitution G A 3_prime_UTR_variant MELA-AU 17 54969163 54969163 single base substitution G A downstream_gene_variant MELA-AU 17 54969163 54969163 single base substitution G A synonymous_variant V597V 1791C>T MELA-AU 17 54969163 54969163 single base substitution G A upstream_gene_variant MELA-AU 17 54969367 54969367 single base substitution G A 3_prime_UTR_variant MELA-AU 17 54969367 54969367 single base substitution G A downstream_gene_variant MELA-AU 17 54969367 54969367 single base substitution G A synonymous_variant C529C 1587C>T MELA-AU 17 54969367 54969367 single base substitution G A upstream_gene_variant MELA-AU 17 54969867 54969867 single base substitution C A downstream_gene_variant MELA-AU 17 54969867 54969867 single base substitution C A intron_variant MELA-AU 17 54969867 54969867 single base substitution C A upstream_gene_variant MELA-AU 17 54970160 54970160 single base substitution G A downstream_gene_variant MELA-AU 17 54970160 54970160 single base substitution G A intron_variant MELA-AU 17 54970160 54970160 single base substitution G A upstream_gene_variant MELA-AU 17 54970433 54970433 single base substitution G A downstream_gene_variant MELA-AU 17 54970433 54970433 single base substitution G A intron_variant MELA-AU 17 54970433 54970433 single base substitution G A upstream_gene_variant MELA-AU 17 54970531 54970531 single base substitution G A downstream_gene_variant MELA-AU 17 54970531 54970531 single base substitution G A intron_variant MELA-AU 17 54970531 54970531 single base substitution G A upstream_gene_variant MELA-AU 17 54970664 54970664 single base substitution G A downstream_gene_variant MELA-AU 17 54970664 54970664 single base substitution G A intron_variant MELA-AU 17 54970664 54970664 single base substitution G A upstream_gene_variant MELA-AU 17 54970848 54970848 single base substitution G A downstream_gene_variant MELA-AU 17 54970848 54970848 single base substitution G A intron_variant MELA-AU 17 54970848 54970848 single base substitution G A upstream_gene_variant MELA-AU 17 54970968 54970968 single base substitution G A downstream_gene_variant MELA-AU 17 54970968 54970968 single base substitution G A intron_variant MELA-AU 17 54970968 54970968 single base substitution G A upstream_gene_variant MELA-AU 17 54971109 54971109 single base substitution G A downstream_gene_variant MELA-AU 17 54971109 54971109 single base substitution G A intron_variant MELA-AU 17 54971109 54971109 single base substitution G A upstream_gene_variant MELA-AU 17 54972031 54972031 single base substitution G A downstream_gene_variant MELA-AU 17 54972031 54972031 single base substitution G A intron_variant MELA-AU 17 54972031 54972031 single base substitution G A upstream_gene_variant MELA-AU 17 54972337 54972337 single base substitution G A downstream_gene_variant MELA-AU 17 54972337 54972337 single base substitution G A intron_variant MELA-AU 17 54972337 54972337 single base substitution G A upstream_gene_variant MELA-AU 17 54972376 54972376 single base substitution G A downstream_gene_variant MELA-AU 17 54972376 54972376 single base substitution G A intron_variant MELA-AU 17 54972376 54972376 single base substitution G A upstream_gene_variant MELA-AU 17 54972377 54972377 single base substitution G A downstream_gene_variant MELA-AU 17 54972377 54972377 single base substitution G A intron_variant MELA-AU 17 54972377 54972377 single base substitution G A upstream_gene_variant MELA-AU 17 54972436 54972457 deletion of <=200bp GCGCCGACCCACAGAGAAAGGT - downstream_gene_variant MELA-AU 17 54972436 54972457 deletion of <=200bp GCGCCGACCCACAGAGAAAGGT - intron_variant MELA-AU 17 54972436 54972457 deletion of <=200bp GCGCCGACCCACAGAGAAAGGT - upstream_gene_variant MELA-AU 17 54972723 54972723 single base substitution G T 3_prime_UTR_variant MELA-AU 17 54972723 54972723 single base substitution G T downstream_gene_variant MELA-AU 17 54972723 54972723 single base substitution G T exon_variant MELA-AU 17 54972723 54972723 single base substitution G T synonymous_variant S448S 1344C>A MELA-AU 17 54972723 54972723 single base substitution G T upstream_gene_variant MELA-AU 17 54972812 54972812 single base substitution G A downstream_gene_variant MELA-AU 17 54972812 54972812 single base substitution G A intron_variant MELA-AU 17 54972812 54972812 single base substitution G A upstream_gene_variant MELA-AU 17 54973168 54973168 single base substitution G A downstream_gene_variant MELA-AU 17 54973168 54973168 single base substitution G A exon_variant MELA-AU 17 54973168 54973168 single base substitution G A intron_variant MELA-AU 17 54973168 54973168 single base substitution G A upstream_gene_variant MELA-AU 17 54973472 54973472 single base substitution G A downstream_gene_variant MELA-AU 17 54973472 54973472 single base substitution G A intron_variant MELA-AU 17 54973472 54973472 single base substitution G A upstream_gene_variant MELA-AU 17 54973548 54973548 single base substitution G A downstream_gene_variant MELA-AU 17 54973548 54973548 single base substitution G A intron_variant MELA-AU 17 54973548 54973548 single base substitution G A upstream_gene_variant MELA-AU 17 54973636 54973636 single base substitution G A downstream_gene_variant MELA-AU 17 54973636 54973636 single base substitution G A intron_variant MELA-AU 17 54973636 54973636 single base substitution G A upstream_gene_variant MELA-AU 17 54973677 54973677 single base substitution G A downstream_gene_variant MELA-AU 17 54973677 54973677 single base substitution G A intron_variant MELA-AU 17 54973677 54973677 single base substitution G A upstream_gene_variant MELA-AU 17 54975127 54975127 single base substitution G A downstream_gene_variant MELA-AU 17 54975127 54975127 single base substitution G A intron_variant MELA-AU 17 54975127 54975127 single base substitution G A upstream_gene_variant MELA-AU 17 54975131 54975131 single base substitution G A downstream_gene_variant MELA-AU 17 54975131 54975131 single base substitution G A intron_variant MELA-AU 17 54975131 54975131 single base substitution G A upstream_gene_variant MELA-AU 17 54975648 54975648 single base substitution G A downstream_gene_variant MELA-AU 17 54975648 54975648 single base substitution G A intron_variant MELA-AU 17 54975648 54975648 single base substitution G A upstream_gene_variant MELA-AU 17 54976009 54976009 single base substitution G A downstream_gene_variant MELA-AU 17 54976009 54976009 single base substitution G A intron_variant MELA-AU 17 54976009 54976009 single base substitution G A upstream_gene_variant MELA-AU 17 54976169 54976169 single base substitution C T downstream_gene_variant MELA-AU 17 54976169 54976169 single base substitution C T intron_variant MELA-AU 17 54976169 54976169 single base substitution C T upstream_gene_variant MELA-AU 17 54976178 54976179 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 54976178 54976179 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 54976178 54976179 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 54977025 54977025 single base substitution G A downstream_gene_variant MELA-AU 17 54977025 54977025 single base substitution G A intron_variant MELA-AU 17 54977025 54977025 single base substitution G A upstream_gene_variant MELA-AU 17 54977206 54977206 single base substitution C T downstream_gene_variant MELA-AU 17 54977206 54977206 single base substitution C T intron_variant MELA-AU 17 54977206 54977206 single base substitution C T upstream_gene_variant MELA-AU 17 54977719 54977719 single base substitution G A downstream_gene_variant MELA-AU 17 54977719 54977719 single base substitution G A intron_variant MELA-AU 17 54977719 54977719 single base substitution G A upstream_gene_variant MELA-AU 17 54978052 54978052 single base substitution G A downstream_gene_variant MELA-AU 17 54978052 54978052 single base substitution G A intron_variant MELA-AU 17 54978052 54978052 single base substitution G A upstream_gene_variant MELA-AU 17 54978220 54978220 single base substitution G A downstream_gene_variant MELA-AU 17 54978220 54978220 single base substitution G A intron_variant MELA-AU 17 54978372 54978372 single base substitution G A downstream_gene_variant MELA-AU 17 54978372 54978372 single base substitution G A intron_variant MELA-AU 17 54978764 54978764 single base substitution G A downstream_gene_variant MELA-AU 17 54978764 54978764 single base substitution G A intron_variant MELA-AU 17 54978780 54978780 single base substitution C T downstream_gene_variant MELA-AU 17 54978780 54978780 single base substitution C T missense_variant G363S 1087G>A MELA-AU 17 54978780 54978780 single base substitution C T splice_region_variant MELA-AU 17 54978895 54978895 single base substitution G A 3_prime_UTR_variant MELA-AU 17 54978895 54978895 single base substitution G A exon_variant MELA-AU 17 54978895 54978895 single base substitution G A synonymous_variant I324I 972C>T MELA-AU 17 54979015 54979015 single base substitution G A intron_variant MELA-AU 17 54980137 54980158 deletion of <=200bp CATGTTGGAATGTGATTCCCAG - intron_variant MELA-AU 17 54980907 54980907 single base substitution G A downstream_gene_variant MELA-AU 17 54980907 54980907 single base substitution G A intron_variant MELA-AU 17 54981536 54981536 single base substitution C T downstream_gene_variant MELA-AU 17 54981536 54981536 single base substitution C T intron_variant MELA-AU 17 54982762 54982762 single base substitution G A downstream_gene_variant MELA-AU 17 54982762 54982762 single base substitution G A intron_variant MELA-AU 17 54982762 54982762 single base substitution G A upstream_gene_variant MELA-AU 17 54982849 54982849 single base substitution G A downstream_gene_variant MELA-AU 17 54982849 54982849 single base substitution G A intron_variant MELA-AU 17 54982849 54982849 single base substitution G A upstream_gene_variant MELA-AU 17 54983300 54983300 single base substitution G A downstream_gene_variant MELA-AU 17 54983300 54983300 single base substitution G A intron_variant MELA-AU 17 54983300 54983300 single base substitution G A upstream_gene_variant MELA-AU 17 54983556 54983556 single base substitution G A downstream_gene_variant MELA-AU 17 54983556 54983556 single base substitution G A intron_variant MELA-AU 17 54983556 54983556 single base substitution G A upstream_gene_variant MELA-AU 17 54984204 54984204 single base substitution C T downstream_gene_variant MELA-AU 17 54984204 54984204 single base substitution C T intron_variant MELA-AU 17 54984204 54984204 single base substitution C T upstream_gene_variant MELA-AU 17 54985336 54985336 single base substitution A G downstream_gene_variant MELA-AU 17 54985336 54985336 single base substitution A G intron_variant MELA-AU 17 54985336 54985336 single base substitution A G upstream_gene_variant MELA-AU 17 54985698 54985698 single base substitution G A downstream_gene_variant MELA-AU 17 54985698 54985698 single base substitution G A intron_variant MELA-AU 17 54985698 54985698 single base substitution G A upstream_gene_variant MELA-AU 17 54985760 54985760 single base substitution C A downstream_gene_variant MELA-AU 17 54985760 54985760 single base substitution C A intron_variant MELA-AU 17 54985760 54985760 single base substitution C A upstream_gene_variant MELA-AU 17 54985907 54985907 single base substitution T C 3_prime_UTR_variant MELA-AU 17 54985907 54985907 single base substitution T C exon_variant MELA-AU 17 54985907 54985907 single base substitution T C synonymous_variant K205K 615A>G MELA-AU 17 54985907 54985907 single base substitution T C upstream_gene_variant MELA-AU 17 54986586 54986586 single base substitution G A intron_variant MELA-AU 17 54986586 54986586 single base substitution G A upstream_gene_variant MELA-AU 17 54987099 54987100 multiple base substitution (>=2bp and <=200bp) AA TT intron_variant MELA-AU 17 54987099 54987100 multiple base substitution (>=2bp and <=200bp) AA TT upstream_gene_variant MELA-AU 17 54987776 54987776 single base substitution C T intron_variant MELA-AU 17 54987776 54987776 single base substitution C T upstream_gene_variant MELA-AU 17 54988063 54988063 single base substitution G A intron_variant MELA-AU 17 54988063 54988063 single base substitution G A upstream_gene_variant MELA-AU 17 54988120 54988120 single base substitution C T intron_variant MELA-AU 17 54988120 54988120 single base substitution C T upstream_gene_variant MELA-AU 17 54989022 54989022 single base substitution G A intron_variant MELA-AU 17 54989022 54989022 single base substitution G A upstream_gene_variant MELA-AU 17 54989049 54989049 single base substitution G A intron_variant MELA-AU 17 54989049 54989049 single base substitution G A upstream_gene_variant MELA-AU 17 54992882 54992882 single base substitution C T upstream_gene_variant MELA-AU 17 54993211 54993211 single base substitution G A upstream_gene_variant MELA-AU 17 54993669 54993669 single base substitution A T upstream_gene_variant MELA-AU 17 54993825 54993825 single base substitution G A upstream_gene_variant MELA-AU 17 54994114 54994114 single base substitution C T upstream_gene_variant MELA-AU 17 54994127 54994127 single base substitution G A upstream_gene_variant MELA-AU 17 54994244 54994244 single base substitution G A upstream_gene_variant MELA-AU 17 54995539 54995539 single base substitution C T upstream_gene_variant MELA-AU 17 54995564 54995564 single base substitution G A upstream_gene_variant MELA-AU 17 54995621 54995621 single base substitution G A upstream_gene_variant MELA-AU 17 54995729 54995729 single base substitution G A upstream_gene_variant MELA-AU 17 54996036 54996036 single base substitution C T upstream_gene_variant MELA-AU 17 54996210 54996210 single base substitution C T upstream_gene_variant MELA-AU 17 54996338 54996338 single base substitution T C upstream_gene_variant OV-AU 17 54963157 54963157 single base substitution G A downstream_gene_variant OV-AU 17 54966891 54966891 single base substitution C T 3_prime_UTR_variant OV-AU 17 54966891 54966891 single base substitution C T downstream_gene_variant OV-AU 17 54969275 54969275 single base substitution G C 3_prime_UTR_variant OV-AU 17 54969275 54969275 single base substitution G C downstream_gene_variant OV-AU 17 54969275 54969275 single base substitution G C missense_variant A560G 1679C>G OV-AU 17 54969275 54969275 single base substitution G C upstream_gene_variant OV-AU 17 54974461 54974461 single base substitution G A downstream_gene_variant OV-AU 17 54974461 54974461 single base substitution G A intron_variant OV-AU 17 54974461 54974461 single base substitution G A upstream_gene_variant OV-AU 17 54976487 54976487 single base substitution T A 3_prime_UTR_variant OV-AU 17 54976487 54976487 single base substitution T A downstream_gene_variant OV-AU 17 54976487 54976487 single base substitution T A exon_variant OV-AU 17 54976487 54976487 single base substitution T A missense_variant K381M 1142A>T OV-AU 17 54976487 54976487 single base substitution T A upstream_gene_variant OV-AU 17 54982453 54982453 single base substitution A C downstream_gene_variant OV-AU 17 54982453 54982453 single base substitution A C intron_variant OV-AU 17 54982453 54982453 single base substitution A C upstream_gene_variant OV-AU 17 54983680 54983680 single base substitution G C downstream_gene_variant OV-AU 17 54983680 54983680 single base substitution G C intron_variant OV-AU 17 54983680 54983680 single base substitution G C upstream_gene_variant OV-AU 17 54984956 54984956 single base substitution A C downstream_gene_variant OV-AU 17 54984956 54984956 single base substitution A C intron_variant OV-AU 17 54984956 54984956 single base substitution A C upstream_gene_variant OV-AU 17 54994801 54994801 single base substitution T C upstream_gene_variant PACA-AU 17 54969364 54969364 single base substitution G A 3_prime_UTR_variant PACA-AU 17 54969364 54969364 single base substitution G A downstream_gene_variant PACA-AU 17 54969364 54969364 single base substitution G A synonymous_variant Y530Y 1590C>T PACA-AU 17 54969364 54969364 single base substitution G A upstream_gene_variant PACA-AU 17 54973575 54973575 single base substitution G C downstream_gene_variant PACA-AU 17 54973575 54973575 single base substitution G C intron_variant PACA-AU 17 54973575 54973575 single base substitution G C upstream_gene_variant PACA-AU 17 54978817 54978817 single base substitution C T 3_prime_UTR_variant PACA-AU 17 54978817 54978817 single base substitution C T exon_variant PACA-AU 17 54978817 54978817 single base substitution C T synonymous_variant Q350Q 1050G>A PACA-AU 17 54984483 54984483 single base substitution C T downstream_gene_variant PACA-AU 17 54984483 54984483 single base substitution C T intron_variant PACA-AU 17 54984483 54984483 single base substitution C T upstream_gene_variant PACA-AU 17 54987187 54987187 single base substitution A T intron_variant PACA-AU 17 54987187 54987187 single base substitution A T upstream_gene_variant PACA-AU 17 54989168 54989168 single base substitution A T intron_variant PACA-AU 17 54989168 54989168 single base substitution A T upstream_gene_variant PACA-AU 17 54989535 54989535 single base substitution A G intron_variant PACA-AU 17 54989535 54989535 single base substitution A G upstream_gene_variant PACA-AU 17 54990174 54990174 single base substitution T C exon_variant PACA-AU 17 54990174 54990174 single base substitution T C intron_variant PACA-AU 17 54990174 54990174 single base substitution T C upstream_gene_variant PACA-AU 17 54990945 54990945 deletion of <=200bp G - frameshift_variant F135 PACA-AU 17 54990945 54990945 deletion of <=200bp G - upstream_gene_variant PACA-AU 17 54993714 54993714 single base substitution G A upstream_gene_variant PACA-AU 17 54993883 54993883 single base substitution G A upstream_gene_variant PACA-CA 17 54964088 54964088 single base substitution G T downstream_gene_variant PACA-CA 17 54964089 54964089 single base substitution A T downstream_gene_variant PACA-CA 17 54965778 54965778 single base substitution T C 3_prime_UTR_variant PACA-CA 17 54965778 54965778 single base substitution T C downstream_gene_variant PACA-CA 17 54968189 54968189 single base substitution G A 3_prime_UTR_variant PACA-CA 17 54968189 54968189 single base substitution G A downstream_gene_variant PACA-CA 17 54968189 54968189 single base substitution G A exon_variant PACA-CA 17 54977588 54977588 single base substitution T A downstream_gene_variant PACA-CA 17 54977588 54977588 single base substitution T A intron_variant PACA-CA 17 54977588 54977588 single base substitution T A upstream_gene_variant PACA-CA 17 54977831 54977831 single base substitution C T downstream_gene_variant PACA-CA 17 54977831 54977831 single base substitution C T intron_variant PACA-CA 17 54977831 54977831 single base substitution C T upstream_gene_variant PACA-CA 17 54980487 54980487 single base substitution C T intron_variant PACA-CA 17 54981197 54981197 single base substitution C T downstream_gene_variant PACA-CA 17 54981197 54981197 single base substitution C T intron_variant PACA-CA 17 54984794 54984794 single base substitution A T downstream_gene_variant PACA-CA 17 54984794 54984794 single base substitution A T intron_variant PACA-CA 17 54984794 54984794 single base substitution A T upstream_gene_variant PACA-CA 17 54987205 54987205 single base substitution T A intron_variant PACA-CA 17 54987205 54987205 single base substitution T A upstream_gene_variant PACA-CA 17 54987636 54987636 single base substitution C T intron_variant PACA-CA 17 54987636 54987636 single base substitution C T upstream_gene_variant PACA-CA 17 54991473 54991473 deletion of <=200bp C - upstream_gene_variant PACA-CA 17 54991511 54991511 single base substitution C T upstream_gene_variant PACA-CA 17 54993339 54993339 single base substitution T G upstream_gene_variant PACA-CA 17 54996097 54996097 single base substitution A G upstream_gene_variant PAEN-IT 17 54979168 54979168 single base substitution G A intron_variant PBCA-DE 17 54964684 54964685 deletion of <=200bp CA - downstream_gene_variant PBCA-DE 17 54969567 54969567 single base substitution A C 3_prime_UTR_variant PBCA-DE 17 54969567 54969567 single base substitution A C downstream_gene_variant PBCA-DE 17 54969567 54969567 single base substitution A C exon_variant PBCA-DE 17 54969567 54969567 single base substitution A C missense_variant Y463D 1387T>G PBCA-DE 17 54969567 54969567 single base substitution A C upstream_gene_variant PBCA-DE 17 54986063 54986063 single base substitution C T intron_variant PBCA-DE 17 54986063 54986063 single base substitution C T upstream_gene_variant PBCA-DE 17 54992688 54992688 single base substitution C A upstream_gene_variant PBCA-DE 17 54992740 54992740 insertion of <=200bp - T upstream_gene_variant PBCA-DE 17 54995540 54995540 deletion of <=200bp A - upstream_gene_variant PRAD-CA 17 54967793 54967793 single base substitution T C 3_prime_UTR_variant PRAD-CA 17 54967793 54967793 single base substitution T C downstream_gene_variant PRAD-UK 17 54968453 54968453 single base substitution G A 3_prime_UTR_variant PRAD-UK 17 54968453 54968453 single base substitution G A downstream_gene_variant PRAD-UK 17 54968453 54968453 single base substitution G A exon_variant PRAD-UK 17 54976605 54976605 single base substitution G C downstream_gene_variant PRAD-UK 17 54976605 54976605 single base substitution G C intron_variant PRAD-UK 17 54976605 54976605 single base substitution G C upstream_gene_variant PRAD-UK 17 54988648 54988648 insertion of <=200bp - T intron_variant PRAD-UK 17 54988648 54988648 insertion of <=200bp - T upstream_gene_variant PRAD-UK 17 54989940 54989940 single base substitution G A intron_variant PRAD-UK 17 54989940 54989940 single base substitution G A upstream_gene_variant PRAD-UK 17 54994517 54994517 single base substitution A G upstream_gene_variant PRAD-US 17 54969322 54969322 single base substitution G A 3_prime_UTR_variant PRAD-US 17 54969322 54969322 single base substitution G A downstream_gene_variant PRAD-US 17 54969322 54969322 single base substitution G A synonymous_variant R544R 1632C>T PRAD-US 17 54969322 54969322 single base substitution G A upstream_gene_variant READ-US 17 54969505 54969505 single base substitution C A 3_prime_UTR_variant READ-US 17 54969505 54969505 single base substitution C A downstream_gene_variant READ-US 17 54969505 54969505 single base substitution C A exon_variant READ-US 17 54969505 54969505 single base substitution C A missense_variant E483D 1449G>T READ-US 17 54969505 54969505 single base substitution C A upstream_gene_variant RECA-EU 17 54960848 54960848 single base substitution A T downstream_gene_variant RECA-EU 17 54972707 54972707 single base substitution C A 3_prime_UTR_variant RECA-EU 17 54972707 54972707 single base substitution C A downstream_gene_variant RECA-EU 17 54972707 54972707 single base substitution C A exon_variant RECA-EU 17 54972707 54972707 single base substitution C A stop_gained E454* 1360G>T RECA-EU 17 54972707 54972707 single base substitution C A upstream_gene_variant RECA-EU 17 54982912 54982912 single base substitution T G downstream_gene_variant RECA-EU 17 54982912 54982912 single base substitution T G intron_variant RECA-EU 17 54982912 54982912 single base substitution T G upstream_gene_variant SKCA-BR 17 54962183 54962202 deletion of <=200bp GCTCATGACCTTTCACATTT - downstream_gene_variant SKCA-BR 17 54966119 54966119 single base substitution A G 3_prime_UTR_variant SKCA-BR 17 54966119 54966119 single base substitution A G downstream_gene_variant SKCA-BR 17 54971412 54971412 single base substitution A G downstream_gene_variant SKCA-BR 17 54971412 54971412 single base substitution A G intron_variant SKCA-BR 17 54971412 54971412 single base substitution A G upstream_gene_variant SKCA-BR 17 54972441 54972441 single base substitution G A downstream_gene_variant SKCA-BR 17 54972441 54972441 single base substitution G A intron_variant SKCA-BR 17 54972441 54972441 single base substitution G A upstream_gene_variant SKCA-BR 17 54972748 54972748 single base substitution A C 3_prime_UTR_variant SKCA-BR 17 54972748 54972748 single base substitution A C downstream_gene_variant SKCA-BR 17 54972748 54972748 single base substitution A C exon_variant SKCA-BR 17 54972748 54972748 single base substitution A C missense_variant V440G 1319T>G SKCA-BR 17 54972748 54972748 single base substitution A C upstream_gene_variant SKCA-BR 17 54972805 54972805 single base substitution G A downstream_gene_variant SKCA-BR 17 54972805 54972805 single base substitution G A splice_region_variant SKCA-BR 17 54972805 54972805 single base substitution G A upstream_gene_variant SKCA-BR 17 54975871 54975871 single base substitution G A downstream_gene_variant SKCA-BR 17 54975871 54975871 single base substitution G A intron_variant SKCA-BR 17 54975871 54975871 single base substitution G A upstream_gene_variant SKCA-BR 17 54977286 54977286 single base substitution T A downstream_gene_variant SKCA-BR 17 54977286 54977286 single base substitution T A intron_variant SKCA-BR 17 54977286 54977286 single base substitution T A upstream_gene_variant SKCA-BR 17 54978471 54978471 single base substitution A G downstream_gene_variant SKCA-BR 17 54978471 54978471 single base substitution A G intron_variant SKCA-BR 17 54983224 54983224 single base substitution T G downstream_gene_variant SKCA-BR 17 54983224 54983224 single base substitution T G intron_variant SKCA-BR 17 54983224 54983224 single base substitution T G upstream_gene_variant SKCA-BR 17 54984910 54984910 single base substitution G A downstream_gene_variant SKCA-BR 17 54984910 54984910 single base substitution G A intron_variant SKCA-BR 17 54984910 54984910 single base substitution G A upstream_gene_variant SKCA-BR 17 54986943 54986943 single base substitution G A intron_variant SKCA-BR 17 54986943 54986943 single base substitution G A upstream_gene_variant SKCA-BR 17 54991171 54991171 single base substitution C T missense_variant R60Q 179G>A SKCA-BR 17 54991171 54991171 single base substitution C T upstream_gene_variant SKCA-BR 17 54992069 54992069 single base substitution C T upstream_gene_variant SKCA-BR 17 54993590 54993590 single base substitution A G upstream_gene_variant SKCA-BR 17 54995165 54995165 single base substitution T A upstream_gene_variant SKCM-US 17 54969117 54969117 single base substitution G A 3_prime_UTR_variant SKCM-US 17 54969117 54969117 single base substitution G A downstream_gene_variant SKCM-US 17 54969117 54969117 single base substitution G A missense_variant P613S 1837C>T SKCM-US 17 54969117 54969117 single base substitution G A upstream_gene_variant SKCM-US 17 54969163 54969163 single base substitution G A 3_prime_UTR_variant SKCM-US 17 54969163 54969163 single base substitution G A downstream_gene_variant SKCM-US 17 54969163 54969163 single base substitution G A synonymous_variant V597V 1791C>T SKCM-US 17 54969163 54969163 single base substitution G A upstream_gene_variant SKCM-US 17 54972922 54972922 single base substitution G A 3_prime_UTR_variant SKCM-US 17 54972922 54972922 single base substitution G A downstream_gene_variant SKCM-US 17 54972922 54972922 single base substitution G A exon_variant SKCM-US 17 54972922 54972922 single base substitution G A synonymous_variant A408A 1224C>T SKCM-US 17 54972922 54972922 single base substitution G A upstream_gene_variant SKCM-US 17 54981663 54981663 single base substitution C T 3_prime_UTR_variant SKCM-US 17 54981663 54981663 single base substitution C T downstream_gene_variant SKCM-US 17 54981663 54981663 single base substitution C T exon_variant SKCM-US 17 54981663 54981663 single base substitution C T missense_variant E294K 880G>A STAD-US 17 54969106 54969106 single base substitution C T 3_prime_UTR_variant STAD-US 17 54969106 54969106 single base substitution C T downstream_gene_variant STAD-US 17 54969106 54969106 single base substitution C T stop_gained W616* 1848G>A STAD-US 17 54969106 54969106 single base substitution C T upstream_gene_variant STAD-US 17 54969424 54969424 deletion of <=200bp C - 3_prime_UTR_variant STAD-US 17 54969424 54969424 deletion of <=200bp C - downstream_gene_variant STAD-US 17 54969424 54969424 deletion of <=200bp C - frameshift_variant G510 STAD-US 17 54969424 54969424 deletion of <=200bp C - upstream_gene_variant STAD-US 17 54969487 54969487 single base substitution C T 3_prime_UTR_variant STAD-US 17 54969487 54969487 single base substitution C T downstream_gene_variant STAD-US 17 54969487 54969487 single base substitution C T exon_variant STAD-US 17 54969487 54969487 single base substitution C T synonymous_variant R489R 1467G>A STAD-US 17 54969487 54969487 single base substitution C T upstream_gene_variant STAD-US 17 54972887 54972887 single base substitution A G 3_prime_UTR_variant STAD-US 17 54972887 54972887 single base substitution A G downstream_gene_variant STAD-US 17 54972887 54972887 single base substitution A G exon_variant STAD-US 17 54972887 54972887 single base substitution A G missense_variant L420S 1259T>C STAD-US 17 54972887 54972887 single base substitution A G upstream_gene_variant STAD-US 17 54976496 54976496 single base substitution C T 3_prime_UTR_variant STAD-US 17 54976496 54976496 single base substitution C T downstream_gene_variant STAD-US 17 54976496 54976496 single base substitution C T exon_variant STAD-US 17 54976496 54976496 single base substitution C T missense_variant R378H 1133G>A STAD-US 17 54976496 54976496 single base substitution C T upstream_gene_variant STAD-US 17 54978813 54978813 single base substitution T C 3_prime_UTR_variant STAD-US 17 54978813 54978813 single base substitution T C exon_variant STAD-US 17 54978813 54978813 single base substitution T C missense_variant I352V 1054A>G STAD-US 17 54981649 54981649 single base substitution G T 3_prime_UTR_variant STAD-US 17 54981649 54981649 single base substitution G T downstream_gene_variant STAD-US 17 54981649 54981649 single base substitution G T exon_variant STAD-US 17 54981649 54981649 single base substitution G T missense_variant S298R 894C>A STAD-US 17 54981735 54981735 single base substitution C T 3_prime_UTR_variant STAD-US 17 54981735 54981735 single base substitution C T downstream_gene_variant STAD-US 17 54981735 54981735 single base substitution C T exon_variant STAD-US 17 54981735 54981735 single base substitution C T missense_variant V270I 808G>A STAD-US 17 54981735 54981735 single base substitution C T upstream_gene_variant STAD-US 17 54981760 54981760 single base substitution C T 3_prime_UTR_variant STAD-US 17 54981760 54981760 single base substitution C T downstream_gene_variant STAD-US 17 54981760 54981760 single base substitution C T exon_variant STAD-US 17 54981760 54981760 single base substitution C T synonymous_variant R261R 783G>A STAD-US 17 54981760 54981760 single base substitution C T upstream_gene_variant STAD-US 17 54981777 54981777 single base substitution C A 3_prime_UTR_variant STAD-US 17 54981777 54981777 single base substitution C A downstream_gene_variant STAD-US 17 54981777 54981777 single base substitution C A exon_variant STAD-US 17 54981777 54981777 single base substitution C A stop_gained E256* 766G>T STAD-US 17 54981777 54981777 single base substitution C A upstream_gene_variant STAD-US 17 54991410 54991410 single base substitution G C upstream_gene_variant UCEC-US 17 54969127 54969127 single base substitution C T 3_prime_UTR_variant UCEC-US 17 54969127 54969127 single base substitution C T downstream_gene_variant UCEC-US 17 54969127 54969127 single base substitution C T synonymous_variant E609E 1827G>A UCEC-US 17 54969127 54969127 single base substitution C T upstream_gene_variant UCEC-US 17 54969559 54969559 single base substitution G A 3_prime_UTR_variant UCEC-US 17 54969559 54969559 single base substitution G A downstream_gene_variant UCEC-US 17 54969559 54969559 single base substitution G A exon_variant UCEC-US 17 54969559 54969559 single base substitution G A synonymous_variant T465T 1395C>T UCEC-US 17 54969559 54969559 single base substitution G A upstream_gene_variant UCEC-US 17 54973303 54973303 single base substitution C A 3_prime_UTR_variant UCEC-US 17 54973303 54973303 single base substitution C A downstream_gene_variant UCEC-US 17 54973303 54973303 single base substitution C A exon_variant UCEC-US 17 54973303 54973303 single base substitution C A missense_variant K388N 1164G>T UCEC-US 17 54973303 54973303 single base substitution C A upstream_gene_variant UCEC-US 17 54981686 54981686 single base substitution C T 3_prime_UTR_variant UCEC-US 17 54981686 54981686 single base substitution C T downstream_gene_variant UCEC-US 17 54981686 54981686 single base substitution C T exon_variant UCEC-US 17 54981686 54981686 single base substitution C T missense_variant S286N 857G>A UCEC-US 17 54981702 54981702 single base substitution G T 3_prime_UTR_variant UCEC-US 17 54981702 54981702 single base substitution G T downstream_gene_variant UCEC-US 17 54981702 54981702 single base substitution G T exon_variant UCEC-US 17 54981702 54981702 single base substitution G T missense_variant L281I 841C>A UCEC-US 17 54985867 54985867 single base substitution C A 3_prime_UTR_variant UCEC-US 17 54985867 54985867 single base substitution C A exon_variant UCEC-US 17 54985867 54985867 single base substitution C A missense_variant A219S 655G>T UCEC-US 17 54985867 54985867 single base substitution C A upstream_gene_variant UCEC-US 17 54985913 54985913 single base substitution C T 3_prime_UTR_variant UCEC-US 17 54985913 54985913 single base substitution C T exon_variant UCEC-US 17 54985913 54985913 single base substitution C T synonymous_variant R203R 609G>A UCEC-US 17 54985913 54985913 single base substitution C T upstream_gene_variant UCEC-US 17 54991092 54991092 single base substitution G A synonymous_variant P86P 258C>T UCEC-US 17 54991092 54991092 single base substitution G A upstream_gene_variant UCEC-US 17 54991311 54991311 single base substitution G T stop_gained C13* 39C>A UCEC-US 17 54991311 54991311 single base substitution G T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PD24205a COSM5787319 c.1531A>C p.I511L Substitution - Missense 17:56892062-56892062 - 8033510 COSM3388038 c.1050G>A p.Q350Q Substitution - coding silent 17:56901456-56901456 - BD124T COSM5493611 c.628T>C p.Y210H Substitution - Missense 17:56908533-56908533 - T1772 COSM4736000 c.1270G>A p.A424T Substitution - Missense 17:56895436-56895436 - TCGA-B5-A0JV-01 COSM4874341 c.1395C>T p.T465T Substitution - coding silent 17:56892198-56892198 - 05-P8014 COSM4579901 c.1056C>T p.I352I Substitution - coding silent 17:56901450-56901450 - T166 COSM307580 c.53A>T p.E18V Substitution - Missense 17:56913936-56913936 - TCGA-AX-A0J0-01 COSM981647 c.841C>A p.L281I Substitution - Missense 17:56904341-56904341 - C086 COSM5540799 c.1883C>T p.S628F Substitution - Missense 17:56891710-56891710 - TCGA-BR-6566-01 COSM4906930 c.1467G>A p.R489R Substitution - coding silent 17:56892126-56892126 - TCGA-CG-5721-01 COSM4068034 c.808G>A p.V270I Substitution - Missense 17:56904374-56904374 - TCGA-BR-4257-01 COSM4068036 c.766G>T p.E256* Substitution - Nonsense 17:56904416-56904416 - TCGA-CG-5721-01 COSM4906789 c.808G>A p.V270I Substitution - Missense 17:56904374-56904374 - sysucc-1838T COSM5763628 c.213C>T p.N71N Substitution - coding silent 17:56913776-56913776 - T578 COSM4736004 c.387G>A p.E129E Substitution - coding silent 17:56913602-56913602 - HCC64T COSM1610513 c.1597A>T p.M533L Substitution - Missense 17:56891996-56891996 - RK084_C01 COSM4944490 c.636G>A p.Q212Q Substitution - coding silent 17:56908525-56908525 - HCC64 COSM1610513 c.1597A>T p.M533L Substitution - Missense 17:56891996-56891996 - ICGC_MB94 COSM4787414 c.1387T>G p.Y463D Substitution - Missense 17:56892206-56892206 - TCGA-EE-A29L-06 COSM3519908 c.1791C>T p.V597V Substitution - coding silent 17:56891802-56891802 - TCGA-DK-A2HX-01 COSM1303087 c.52G>A p.E18K Substitution - Missense 17:56913937-56913937 - PD4874a COSM5798937 c.1624C>G p.L542V Substitution - Missense 17:56891969-56891969 - B85-0-Tumor COSM4908976 c.1153+1G>A p.? Unknown 17:56899114-56899114 - 46M COSM5589206 c.493G>C p.E165Q Substitution - Missense 17:56913496-56913496 - TCGA-B5-A0JY-01 COSM4269161 c.1164G>T p.K388N Substitution - Missense 17:56895942-56895942 - TCGA-22-5474-01 COSM4861439 c.1727G>C p.R576P Substitution - Missense 17:56891866-56891866 - TCGA-HU-A4GC-01 COSM4906878 c.1054A>G p.I352V Substitution - Missense 17:56901452-56901452 - TCGA-EB-A3Y6-01 COSM4894601 c.880G>A p.E294K Substitution - Missense 17:56904302-56904302 - BD223T COSM5496641 c.1039G>A p.E347K Substitution - Missense 17:56901467-56901467 - PD4874a COSM5798936 c.1624C>G p.L542V Substitution - Missense 17:56891969-56891969 - HCC64T COSM4781281 c.1597A>T p.M533L Substitution - Missense 17:56891996-56891996 - TCGA-EE-A3AG-06 COSM3519907 c.1837C>T p.P613S Substitution - Missense 17:56891756-56891756 - 2334192 COSM323982 c.910G>C p.E304Q Substitution - Missense 17:56904272-56904272 - HCC24T COSM1610514 c.179G>C p.R60P Substitution - Missense 17:56913810-56913810 - S02273 COSM5681703 c.1627G>C p.G543R Substitution - Missense 17:56891966-56891966 - TCGA-HU-A4GC-01 COSM4068032 c.1054A>G p.I352V Substitution - Missense 17:56901452-56901452 - Pat_16_A COSM5853051 c.460C>T p.R154C Substitution - Missense 17:56913529-56913529 - DLD1 COSM4623625 c.249G>A p.R83R Substitution - coding silent 17:56913740-56913740 - 05-P8014 COSM4579902 c.1056C>T p.I352I Substitution - coding silent 17:56901450-56901450 - HCC24T COSM4781398 c.179G>C p.R60P Substitution - Missense 17:56913810-56913810 - TCGA-HU-A4GT-01 COSM4068028 c.1848G>A p.W616* Substitution - Nonsense 17:56891745-56891745 - TCGA-AN-A046-01 COSM4269161 c.1164G>T p.K388N Substitution - Missense 17:56895942-56895942 - RK084_C01 COSM1630303 c.636G>A p.Q212Q Substitution - coding silent 17:56908525-56908525 - 9227_T COSM5042068 c.1336G>A p.A446T Substitution - Missense 17:56895370-56895370 - TCGA-DK-A2HX-01 COSM4812555 c.52G>A p.E18K Substitution - Missense 17:56913937-56913937 - ESCC_44 COSM5630038 c.1093C>T p.P365S Substitution - Missense 17:56899175-56899175 - TCGA-FW-A3R5-06 COSM3890025 c.1224C>T p.A408A Substitution - coding silent 17:56895561-56895561 - PD14433a COSM1479766 c.1604G>A p.R535Q Substitution - Missense 17:56891989-56891989 - T3064 COSM4735997 c.1631G>A p.R544H Substitution - Missense 17:56891962-56891962 - YUPTER COSM561644 c.1613C>T p.P538L Substitution - Missense 17:56891980-56891980 - 081T COSM1730824 c.1422G>T p.E474D Substitution - Missense 17:56892171-56892171 - AOCS-171-3-8 COSM4422276 c.1679C>G p.A560G Substitution - Missense 17:56891914-56891914 - TCGA-MH-A55Z-01 COSM3989172 c.1828G>C p.A610P Substitution - Missense 17:56891765-56891765 - C0058T COSM4151680 c.1360G>T p.E454* Substitution - Nonsense 17:56895346-56895346 - TCGA-C8-A12M-01 COSM436958 c.1050G>C p.Q350H Substitution - Missense 17:56901456-56901456 - S02256 COSM5681256 c.963A>T p.P321P Substitution - coding silent 17:56901543-56901543 - TCGA-AP-A056-01 COSM4868605 c.857G>A p.S286N Substitution - Missense 17:56904325-56904325 - sysucc-311T COSM5464119 c.832T>G p.Y278D Substitution - Missense 17:56904350-56904350 - TCGA-BP-4991-01 COSM473080 c.672A>C p.R224S Substitution - Missense 17:56908489-56908489 - TCGA-GC-A3BM-01 COSM4811254 c.1781C>A p.A594D Substitution - Missense 17:56891812-56891812 - TCGA-BR-4257-01 COSM4907434 c.766G>T p.E256* Substitution - Nonsense 17:56904416-56904416 - Pat_16_A COSM5853052 c.460C>T p.R154C Substitution - Missense 17:56913529-56913529 - TCGA-BR-6452-01 COSM4907461 c.894C>A p.S298R Substitution - Missense 17:56904288-56904288 - YUZINO COSM1685748 c.1618delA p.S540fs*60 Deletion - Frameshift 17:56891975-56891975 - TCGA-AX-A0J1-01 COSM981649 c.655G>T p.A219S Substitution - Missense 17:56908506-56908506 - MZ7-mel COSM24053 c.67C>T p.P23S Substitution - Missense 17:56913922-56913922 - CHC2358T COSM4953250 c.1267G>T p.A423S Substitution - Missense 17:56895439-56895439 - C0058T COSM4151679 c.1360G>T p.E454* Substitution - Nonsense 17:56895346-56895346 - sysucc-1838T COSM5763629 c.213C>T p.N71N Substitution - coding silent 17:56913776-56913776 - TCGA-CH-5737-01 COSM4879215 c.1632C>T p.R544R Substitution - coding silent 17:56891961-56891961 - S02299 COSM5690334 c.161G>T p.R54L Substitution - Missense 17:56913828-56913828 - HN_63080 COSM126997 c.634C>T p.Q212* Substitution - Nonsense 17:56908527-56908527 - TCGA-BR-6452-01 COSM4068033 c.894C>A p.S298R Substitution - Missense 17:56904288-56904288 - CHC892T COSM4796929 c.747G>A p.K249K Substitution - coding silent 17:56904435-56904435 - CHC2358T COSM4953249 c.1267G>T p.A423S Substitution - Missense 17:56895439-56895439 - S02299 COSM5690333 c.161G>T p.R54L Substitution - Missense 17:56913828-56913828 - AOCS-171-3-8 COSM3983561 c.1679C>G p.A560G Substitution - Missense 17:56891914-56891914 - 587224 COSM1230309 c.674A>T p.N225I Substitution - Missense 17:56908487-56908487 - S0045 COSM5882879 c.1477C>A p.Q493K Substitution - Missense 17:56892116-56892116 - TCGA-AX-A0J0-01 COSM4867201 c.841C>A p.L281I Substitution - Missense 17:56904341-56904341 - 9227_T COSM5042069 c.1336G>A p.A446T Substitution - Missense 17:56895370-56895370 - TCGA-CJ-4640-01 COSM4857130 c.864C>G p.I288M Substitution - Missense 17:56904318-56904318 - LUAD-D02326 COSM404916 c.920_927+8del16 p.? Unknown TCGA-A8-A0A6-01 COSM3820042 c.713T>G p.V238G Substitution - Missense 17:56904469-56904469 - TCGA-AP-A051-01 COSM981651 c.609G>A p.R203R Substitution - coding silent 17:56908552-56908552 - sysucc-311T COSM5464117 c.1339A>G p.K447E Substitution - Missense 17:56895367-56895367 - TCGA-EE-A29L-06 COSM4897369 c.1791C>T p.V597V Substitution - coding silent 17:56891802-56891802 - TCGA-AP-A056-01 COSM981645 c.857G>A p.S286N Substitution - Missense 17:56904325-56904325 - ICGC_MB94 COSM3764616 c.1387T>G p.Y463D Substitution - Missense 17:56892206-56892206 - sysucc-1838T COSM5763604 c.214G>T p.V72L Substitution - Missense 17:56913775-56913775 - 8058330 COSM3388037 c.1590C>T p.Y530Y Substitution - coding silent 17:56892003-56892003 - PD14433a COSM5198195 c.1604G>A p.R535Q Substitution - Missense 17:56891989-56891989 - KPOPBR-03-T COSM5965014 c.1010T>C p.I337T Substitution - Missense 17:56901496-56901496 - TCGA-AN-A046-01 COSM981643 c.1164G>T p.K388N Substitution - Missense 17:56895942-56895942 - LC_S14 COSM1191098 c.1241_1242insT p.L415fs*37 Insertion - Frameshift 17:56895543-56895544 - CSCC-15-T COSM4572354 c.71T>A p.V24D Substitution - Missense 17:56913918-56913918 - TCGA-70-6722-01 COSM4862539 c.1657T>A p.W553R Substitution - Missense 17:56891936-56891936 - 46M COSM5589205 c.493G>C p.E165Q Substitution - Missense 17:56913496-56913496 - T1772 COSM4736001 c.1270G>A p.A424T Substitution - Missense 17:56895436-56895436 - TCGA-MH-A55Z-01 COSM4908279 c.1828G>C p.A610P Substitution - Missense 17:56891765-56891765 - SNUH_G26_S1 COSM4000224 c.1073C>T p.P358L Substitution - Missense 17:56901433-56901433 - CHC892T COSM4796930 c.747G>A p.K249K Substitution - coding silent 17:56904435-56904435 - S02241 COSM5676793 c.566C>A p.A189E Substitution - Missense 17:56913423-56913423 - DLD1 COSM4623626 c.249G>A p.R83R Substitution - coding silent 17:56913740-56913740 - PD4003a COSM165127 c.903G>C p.K301N Substitution - Missense 17:56904279-56904279 - TCGA-AP-A059-01 COSM4866455 c.1827G>A p.E609E Substitution - coding silent 17:56891766-56891766 - SH-0622 COSM5018427 c.1080delC p.S361fs*20 Deletion - Frameshift 17:56901426-56901426 - DN1401F COSM5960836 c.1456C>T p.Q486* Substitution - Nonsense 17:56892137-56892137 - TCGA-DK-A1A7-01 COSM417436 c.644G>C p.G215A Substitution - Missense 17:56908517-56908517 - T2944 COSM4736002 c.1132delC p.R378fs*3 Deletion - Frameshift 17:56899136-56899136 - BD124T COSM5493610 c.628T>C p.Y210H Substitution - Missense 17:56908533-56908533 - TCGA-AP-A059-01 COSM981637 c.1827G>A p.E609E Substitution - coding silent 17:56891766-56891766 - sysucc-1838T COSM5763605 c.214G>T p.V72L Substitution - Missense 17:56913775-56913775 - TCGA-B5-A0K6-01 COSM981641 c.1292C>A p.P431Q Substitution - Missense 17:56895414-56895414 - 19 COSM5747877 c.1423T>C p.C475R Substitution - Missense 17:56892170-56892170 - ESCC_44 COSM5630039 c.1093C>T p.P365S Substitution - Missense 17:56899175-56899175 - 587224 COSM1230310 c.292G>A p.A98T Substitution - Missense 17:56913697-56913697 - T3225 COSM4735999 c.1381C>A p.L461M Substitution - Missense 17:56892212-56892212 - HCC24 COSM1610514 c.179G>C p.R60P Substitution - Missense 17:56913810-56913810 - CHC892T COSM4796929 c.747G>A p.K249K Substitution - coding silent 17:56904435-56904435 - ESO-250 COSM1268520 c.1180+1G>A p.? Unknown 17:56895925-56895925 - S02273 COSM5681704 c.1627G>C p.G543R Substitution - Missense 17:56891966-56891966 - TCGA-BR-4368-01 COSM4907357 c.1259T>C p.L420S Substitution - Missense 17:56895526-56895526 - CHC2358T COSM4953250 c.1267G>T p.A423S Substitution - Missense 17:56895439-56895439 - S02241 COSM5676792 c.566C>A p.A189E Substitution - Missense 17:56913423-56913423 - C086 COSM5540798 c.905G>A p.R302K Substitution - Missense 17:56904277-56904277 - TCGA-D1-A15V-01 COSM4876111 c.258C>T p.P86P Substitution - coding silent 17:56913731-56913731 - TCGA-HU-A4GT-01 COSM4907717 c.1848G>A p.W616* Substitution - Nonsense 17:56891745-56891745 - T3064 COSM4735996 c.1631G>A p.R544H Substitution - Missense 17:56891962-56891962 - PD4003a COSM4809388 c.903G>C p.K301N Substitution - Missense 17:56904279-56904279 - TCGA-GC-A3BM-01 COSM3795843 c.1781C>A p.A594D Substitution - Missense 17:56891812-56891812 - TCGA-FD-A3SS-01 COSM4811416 c.177G>A p.A59A Substitution - coding silent 17:56913812-56913812 - C086 COSM5540797 c.905G>A p.R302K Substitution - Missense 17:56904277-56904277 - AOCS-171-1-0 COSM4422276 c.1679C>G p.A560G Substitution - Missense 17:56891914-56891914 - HCC1937 COSM33044 c.901A>T p.K301* Substitution - Nonsense 17:56904281-56904281 - TCGA-EB-A3Y6-01 COSM3519909 c.880G>A p.E294K Substitution - Missense 17:56904302-56904302 - YUDON COSM5386849 c.915C>T p.F305F Substitution - coding silent 17:56904267-56904267 - TCGA-BR-6566-01 COSM4068029 c.1467G>A p.R489R Substitution - coding silent 17:56892126-56892126 - TCGA-A8-A0A6-01 COSM4815389 c.713T>G p.V238G Substitution - Missense 17:56904469-56904469 - TCGA-AA-3949-01 COSM296964 c.1470G>A p.P490P Substitution - coding silent 17:56892123-56892123 - HX28T COSM4781398 c.179G>C p.R60P Substitution - Missense 17:56913810-56913810 - HX28T COSM1610514 c.179G>C p.R60P Substitution - Missense 17:56913810-56913810 - CSCC-15-T COSM4572353 c.71T>A p.V24D Substitution - Missense 17:56913918-56913918 - TCGA-AP-A0LM-01 COSM981655 c.39C>A p.C13* Substitution - Nonsense 17:56913950-56913950 - TCGA-AA-3715-01 COSM270391 c.1577T>C p.V526A Substitution - Missense 17:56892016-56892016 - T578 COSM4736005 c.387G>A p.E129E Substitution - coding silent 17:56913602-56913602 - TCGA-AX-A0J1-01 COSM4867877 c.655G>T p.A219S Substitution - Missense 17:56908506-56908506 - B85-0-Tumor COSM1756946 c.1153+1G>A p.? Unknown 17:56899114-56899114 - S0045 COSM5882878 c.1477C>A p.Q493K Substitution - Missense 17:56892116-56892116 - TCGA-EE-A3AG-06 COSM4897555 c.1837C>T p.P613S Substitution - Missense 17:56891756-56891756 - LC_S28 COSM1189513 c.1886C>G p.P629R Substitution - Missense 17:56891707-56891707 - YUDON COSM5386850 c.915C>T p.F305F Substitution - coding silent 17:56904267-56904267 - TCGA-22-5474-01 COSM706756 c.1727G>C p.R576P Substitution - Missense 17:56891866-56891866 - B85-0 COSM1756946 c.1153+1G>A p.? Unknown 17:56899114-56899114 - T3225 COSM4735998 c.1381C>A p.L461M Substitution - Missense 17:56892212-56892212 - 2293773 COSM4607304 c.1192G>T p.A398S Substitution - Missense 17:56895593-56895593 - CHC892T COSM4796930 c.747G>A p.K249K Substitution - coding silent 17:56904435-56904435 - TCGA-BR-4184-01 COSM4068031 c.1133G>A p.R378H Substitution - Missense 17:56899135-56899135 - KM12 COSM4638991 c.279C>T p.P93P Substitution - coding silent 17:56913710-56913710 - LUAD-S01357 COSM386828 c.798G>A p.E266E Substitution - coding silent 17:56904384-56904384 - YUPTER COSM5301439 c.1613C>T p.P538L Substitution - Missense 17:56891980-56891980 - AOCS-171-1-0 COSM3983561 c.1679C>G p.A560G Substitution - Missense 17:56891914-56891914 - TCGA-BR-4368-01 COSM4068030 c.1259T>C p.L420S Substitution - Missense 17:56895526-56895526 - NCI-H1770 COSM24044 c.606G>A p.L202L Substitution - coding silent 17:56908555-56908555 - SH-0622 COSM5018426 c.1080delC p.S361fs*20 Deletion - Frameshift 17:56901426-56901426 - S02256 COSM5681255 c.963A>T p.P321P Substitution - coding silent 17:56901543-56901543 - SNUH_G10_S1 COSM4000225 c.773C>A p.T258N Substitution - Missense 17:56904409-56904409 - TCGA-CH-5737-01 COSM1130225 c.1632C>T p.R544R Substitution - coding silent 17:56891961-56891961 - TCGA-FD-A3SS-01 COSM3795844 c.177G>A p.A59A Substitution - coding silent 17:56913812-56913812 - C086 COSM5540800 c.1883C>T p.S628F Substitution - Missense 17:56891710-56891710 - LUAD-CHTN-3090346 COSM356851 c.669G>C p.V223V Substitution - coding silent 17:56908492-56908492 - TCGA-BP-4991-01 COSM4858308 c.672A>C p.R224S Substitution - Missense 17:56908489-56908489 - TCGA-IR-A3LH-01 COSM4833219 c.1626C>T p.L542L Substitution - coding silent 17:56891967-56891967 - KPOPBR-03-T COSM5965015 c.1010T>C p.I337T Substitution - Missense 17:56901496-56901496 - T2944 COSM4736003 c.1132delC p.R378fs*3 Deletion - Frameshift 17:56899136-56899136 - DN1401F COSM5960837 c.1456C>T p.Q486* Substitution - Nonsense 17:56892137-56892137 - BD223T COSM5496640 c.1039G>A p.E347K Substitution - Missense 17:56901467-56901467 - TCGA-A2-A0SY-01 COSM4813892 c.522C>T p.C174C Substitution - coding silent 17:56913467-56913467 - TCGA-IR-A3LH-01 COSM4833218 c.1626C>T p.L542L Substitution - coding silent 17:56891967-56891967 - TCGA-CJ-4640-01 COSM1135966 c.864C>G p.I288M Substitution - Missense 17:56904318-56904318 - TCGA-A2-A0SY-01 COSM436959 c.522C>T p.C174C Substitution - coding silent 17:56913467-56913467 - TCGA-AG-3742-01 COSM4946208 c.1449G>T p.E483D Substitution - Missense 17:56892144-56892144 - CHC2358T COSM4953249 c.1267G>T p.A423S Substitution - Missense 17:56895439-56895439 - 2293773 COSM4607305 c.1192G>T p.A398S Substitution - Missense 17:56895593-56895593 - sysucc-311T COSM5464116 c.1339A>G p.K447E Substitution - Missense 17:56895367-56895367 - 19 COSM5747878 c.1423T>C p.C475R Substitution - Missense 17:56892170-56892170 - KM12 COSM4638992 c.279C>T p.P93P Substitution - coding silent 17:56913710-56913710 - AOCS-138-3-X COSM3983562 c.1142A>T p.K381M Substitution - Missense 17:56899126-56899126 - TCGA-DK-A1A7-01 COSM4812500 c.644G>C p.G215A Substitution - Missense 17:56908517-56908517 - TCGA-70-6722-01 COSM706755 c.1657T>A p.W553R Substitution - Missense 17:56891936-56891936 - TCGA-AG-3742-01 COSM1563754 c.1449G>T p.E483D Substitution - Missense 17:56892144-56892144 - TCGA-AP-A0LM-01 COSM4873191 c.39C>A p.C13* Substitution - Nonsense 17:56913950-56913950 - TCGA-B5-A0JY-01 COSM981643 c.1164G>T p.K388N Substitution - Missense 17:56895942-56895942 - TCGA-AP-A051-01 COSM4872712 c.609G>A p.R203R Substitution - coding silent 17:56908552-56908552 - PD24205a COSM5787318 c.1531A>C p.I511L Substitution - Missense 17:56892062-56892062 - TCGA-B5-A0JV-01 COSM981639 c.1395C>T p.T465T Substitution - coding silent 17:56892198-56892198 - AOCS-138-3-X COSM4909156 c.1142A>T p.K381M Substitution - Missense 17:56899126-56899126 - TCGA-C8-A12M-01 COSM4813750 c.1050G>C p.Q350H Substitution - Missense 17:56901456-56901456 - TCGA-BR-4184-01 COSM4907280 c.1133G>A p.R378H Substitution - Missense 17:56899135-56899135 - 8033510 COSM4946661 c.1050G>A p.Q350Q Substitution - coding silent 17:56901456-56901456 - sysucc-311T COSM5464118 c.832T>G p.Y278D Substitution - Missense 17:56904350-56904350 - TCGA-D1-A15V-01 COSM981653 c.258C>T p.P86P Substitution - coding silent 17:56913731-56913731 - 105T COSM1725164 c.1069G>A p.E357K Substitution - Missense 17:56901437-56901437 - TCGA-BR-4279-01 COSM4068035 c.783G>A p.R261R Substitution - coding silent 17:56904399-56904399 - TCGA-BR-4279-01 COSM4907441 c.783G>A p.R261R Substitution - coding silent 17:56904399-56904399 - 8058330 COSM4945900 c.1590C>T p.Y530Y Substitution - coding silent 17:56892003-56892003 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.528945;Hs.528952 17q23.2 600453 269390|dbSNP|BC016924|C/T|coding|Leu358Pro|1116|Validated; 269390|dbSNP|BC042541|C/T|coding|Leu358Pro|1116|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.Y463D c.1387T>G 17 54969567 MB A G IntronicSNV . c.1364-34T>C 17 54969624 STAD A G Missense p.L420S c.1259T>C 17 54972887 STAD A T Missense p.W553R c.1657T>A 17 54969297 LUSC A T Nonsense p.K301* c.901A>T 17 54981642 BRCA C A Nonsense p.E256* c.766G>T 17 54981777 STAD C G Missense p.E304Q c.910G>C 17 54981633 SCLC C G Missense p.G215A c.644G>C 17 54985878 BLCA C G Missense p.K301N c.903G>C 17 54981640 BRCA C G Missense p.Q350H c.1050G>C 17 54978817 BRCA C G Missense p.R576P c.1727G>C 17 54969227 LUSC C T Missense p.E18K c.52G>A 17 54991298 BLCA C T Missense p.R535Q c.1604G>A 17 54969350 BRCA C T SpliceDonorSNV . c.1180+1G>A 17 54973286 ESCA C T Synonymous p.Q212Q c.636G>A 17 54985886 HC C T Synonymous p.R261R c.783G>A 17 54981760 STAD G A Missense p.P538L c.1613C>T 17 54969341 LUAD G A Missense p.P613S c.1837C>T 17 54969117 CM G A Nonsense p.Q212* c.634C>T 17 54985888 HNSC G A Synonymous p.C174C c.522C>T 17 54990828 BRCA G A Synonymous p.D142D c.426C>T 17 54990924 HNSC G A Synonymous p.P86P c.258C>T 17 54991092 UCEC G A Synonymous p.R544R c.1632C>T 17 54969322 PRAD G A Synonymous p.T465T c.1395C>T 17 54969559 UCEC G A Synonymous p.V597V c.1791C>T 17 54969163 CM G C Missense p.I288M c.864C>G 17 54981679 RCCC GG AA Missense p.S125F c.374_375delinsTT 17 54990975 CM T G Missense p.R224S c.672A>C 17 54985850 RCCC T G Missense p.T572P c.1714A>C 17 54969240 LUAD