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 9 130216823 130216823 + Missense_Mutation SNP G G T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 g.chr9:130216823G>T c.17G>T c.(16-18)cGg>cTg p.R6L BLCA 9 130217858 130217858 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 g.chr9:130217858C>G c.133C>G c.(133-135)Cca>Gca p.P45A BLCA 9 130221351 130221351 + Splice_Site SNP G G T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 g.chr9:130221351G>T c.e6+1 BLCA 9 130223461 130223461 + Missense_Mutation SNP G G A TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr9:130223461G>A c.331G>A c.(331-333)Gtg>Atg p.V111M BLCA 9 130236155 130236155 + Missense_Mutation SNP G G A TCGA-GD-A76B-01A-11D-A32B-08 TCGA-GD-A76B-10A-01D-A329-08 g.chr9:130236155G>A c.695G>A c.(694-696)cGg>cAg p.R232Q BLCA 9 130241761 130241761 + Missense_Mutation SNP G G A TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr9:130241761G>A c.880G>A c.(880-882)Gag>Aag p.E294K BLCA 9 130241761 130241761 + Missense_Mutation SNP G G A TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr9:130241761G>A c.880G>A c.(880-882)Gag>Aag p.E294K BLCA 9 130263353 130263353 + Silent SNP G G A TCGA-4Z-AA7O-01A-31D-A391-08 TCGA-4Z-AA7O-10A-01D-A394-08 g.chr9:130263353G>A c.1977G>A c.(1975-1977)gtG>gtA p.V659V BLCA 9 130265127 130265127 + Silent SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 g.chr9:130265127G>A c.2121G>A c.(2119-2121)ccG>ccA p.P707P BLCA 9 130265177 130265177 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 g.chr9:130265177G>A c.2171G>A c.(2170-2172)tGa>tAa p.*724* BRCA 9 130223478 130223478 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr9:130223478G>C c.348G>C c.(346-348)ctG>ctC p.L116L BRCA 9 130223502 130223502 + Silent SNP G G A TCGA-A7-A56D-01A-11D-A27P-09 TCGA-A7-A56D-10A-01D-A27P-09 g.chr9:130223502G>A c.372G>A c.(370-372)ggG>ggA p.G124G BRCA 9 130236137 130236137 + Missense_Mutation SNP A A G TCGA-A8-A076-01A-21W-A019-09 TCGA-A8-A076-10A-01W-A021-09 g.chr9:130236137A>G c.677A>G c.(676-678)gAt>gGt p.D226G BRCA 9 130245270 130245271 + Frame_Shift_Del DEL CT CT - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 g.chr9:130245270_130245271delCT c.1130_1131delCT c.(1129-1131)actfs p.T377fs BRCA 9 130249962 130249962 + Missense_Mutation SNP G G A TCGA-D8-A1JN-01A-11D-A13L-09 TCGA-D8-A1JN-10A-01D-A13O-09 g.chr9:130249962G>A c.1267G>A c.(1267-1269)Gaa>Aaa p.E423K BRCA 9 130250014 130250014 + Missense_Mutation SNP A A T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 g.chr9:130250014A>T c.1319A>T c.(1318-1320)aAc>aTc p.N440I BRCA 9 130263396 130263396 + Missense_Mutation SNP G G C TCGA-AR-A1AR-01A-31D-A135-09 TCGA-AR-A1AR-10A-01D-A135-09 g.chr9:130263396G>C c.2020G>C c.(2020-2022)Gag>Cag p.E674Q CESC 9 130249962 130249962 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr9:130249962G>A c.1267G>A c.(1267-1269)Gaa>Aaa p.E423K CESC 9 130251773 130251773 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 g.chr9:130251773G>A c.1398G>A c.(1396-1398)ctG>ctA p.L466L CESC 9 130257620 130257620 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 g.chr9:130257620G>A c.1621G>A c.(1621-1623)Gaa>Aaa p.E541K CESC 9 130257661 130257661 + Silent SNP G G T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 g.chr9:130257661G>T c.1662G>T c.(1660-1662)cgG>cgT p.R554R CESC 9 130259564 130259564 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 g.chr9:130259564G>C c.1863G>C c.(1861-1863)gaG>gaC p.E621D CESC 9 130263375 130263375 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 g.chr9:130263375G>A c.1999G>A c.(1999-2001)Gag>Aag p.E667K COAD 9 130216822 130216822 + Missense_Mutation SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr9:130216822C>T c.16C>T c.(16-18)Cgg>Tgg p.R6W COAD 9 130263314 130263314 + Silent SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr9:130263314C>T c.1938C>T c.(1936-1938)gtC>gtT p.V646V COADREAD 9 130216822 130216822 + Missense_Mutation SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr9:130216822C>T c.16C>T c.(16-18)Cgg>Tgg p.R6W COADREAD 9 130263314 130263314 + Silent SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr9:130263314C>T c.1938C>T c.(1936-1938)gtC>gtT p.V646V DLBC 9 130263362 130263362 + Silent SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr9:130263362C>T c.1986C>T c.(1984-1986)tcC>tcT p.S662S ESCA 9 130230083 130230083 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 g.chr9:130230083C>T c.593C>T c.(592-594)gCg>gTg p.A198V ESCA 9 130236144 130236144 + Silent SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 g.chr9:130236144C>A c.684C>A c.(682-684)atC>atA p.I228I ESCA 9 130265075 130265075 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chr9:130265075G>A c.2069G>A c.(2068-2070)tGt>tAt p.C690Y GBMLGG 9 130259537 130259537 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:130259537C>T c.1836C>T c.(1834-1836)ggC>ggT p.G612G HNSC 9 130241706 130241706 + Missense_Mutation SNP A A C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 g.chr9:130241706A>C c.825A>C c.(823-825)gaA>gaC p.E275D HNSC 9 130241717 130241717 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr9:130241717G>T c.836G>T c.(835-837)cGg>cTg p.R279L HNSC 9 130241761 130241761 + Missense_Mutation SNP G G A TCGA-CV-A45U-01A-12D-A24D-08 TCGA-CV-A45U-10A-01D-A24F-08 g.chr9:130241761G>A c.880G>A c.(880-882)Gag>Aag p.E294K HNSC 9 130253536 130253536 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 g.chr9:130253536G>C c.1465G>C c.(1465-1467)Gag>Cag p.E489Q HNSC 9 130257620 130257620 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 g.chr9:130257620G>A c.1621G>A c.(1621-1623)Gaa>Aaa p.E541K HNSC 9 130259572 130259572 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 g.chr9:130259572G>A c.1871G>A c.(1870-1872)cGg>cAg p.R624Q HNSC 9 130263293 130263293 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 g.chr9:130263293G>A c.1917G>A c.(1915-1917)ctG>ctA p.L639L HNSC 9 130263396 130263396 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr9:130263396G>C c.2020G>C c.(2020-2022)Gag>Cag p.E674Q HNSC 9 130265101 130265101 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr9:130265101T>C c.2095T>C c.(2095-2097)Tgc>Cgc p.C699R KIPAN 9 130241215 130241215 + Silent SNP C C T TCGA-B0-4849-01A-01D-1361-10 TCGA-B0-4849-11A-01D-1361-10 g.chr9:130241215C>T c.753C>T c.(751-753)aaC>aaT p.N251N KIRC 9 130241215 130241215 + Silent SNP C C T TCGA-B0-4849-01A-01D-1361-10 TCGA-B0-4849-11A-01D-1361-10 g.chr9:130241215C>T c.753C>T c.(751-753)aaC>aaT p.N251N LGG 9 130259537 130259537 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:130259537C>T c.1836C>T c.(1834-1836)ggC>ggT p.G612G LIHC 9 130242226 130242226 + Missense_Mutation SNP C C T TCGA-RG-A7D4-01A-12D-A33Q-10 TCGA-RG-A7D4-10A-01D-A33Q-10 g.chr9:130242226C>T c.1012C>T c.(1012-1014)Cgg>Tgg p.R338W LUAD 9 130216818 130216818 + Silent SNP C C T TCGA-97-A4M5-01A-11D-A24P-08 TCGA-97-A4M5-10A-01D-A24P-08 g.chr9:130216818C>T c.12C>T c.(10-12)ttC>ttT p.F4F LUAD 9 130221303 130221303 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr9:130221303C>G c.274C>G c.(274-276)Cag>Gag p.Q92E LUAD 9 130241233 130241233 + Missense_Mutation SNP G G T TCGA-55-8616-01A-11D-2393-08 TCGA-55-8616-10A-01D-2393-08 g.chr9:130241233G>T c.771G>T c.(769-771)gaG>gaT p.E257D LUAD 9 130242172 130242172 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr9:130242172G>C c.958G>C c.(958-960)Gag>Cag p.E320Q LUAD 9 130251778 130251778 + Missense_Mutation SNP A A G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 g.chr9:130251778A>G c.1403A>G c.(1402-1404)cAt>cGt p.H468R LUAD 9 130257628 130257628 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 g.chr9:130257628G>T c.1629G>T c.(1627-1629)agG>agT p.R543S LUSC 9 130217333 130217333 + Splice_Site SNP G G T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 g.chr9:130217333G>T c.129G>T c.(127-129)gaG>gaT p.E43D LUSC 9 130258289 130258289 + Nonsense_Mutation SNP C C A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 g.chr9:130258289C>A c.1745C>A c.(1744-1746)tCg>tAg p.S582* OV 9 130230081 130230081 + Silent SNP T T G TCGA-13-0727-01A-01W-0370-10 TCGA-13-0727-10B-01W-0370-10 g.chr9:130230081T>G c.591T>G c.(589-591)acT>acG p.T197T OV 9 130230081 130230081 + Silent SNP T T G TCGA-25-1628-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 g.chr9:130230081T>G c.591T>G c.(589-591)acT>acG p.T197T PAAD 9 130230041 130230041 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr9:130230041C>A c.551C>A c.(550-552)gCc>gAc p.A184D PAAD 9 130251727 130251727 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr9:130251727C>T c.1352C>T c.(1351-1353)gCg>gTg p.A451V PAAD 9 130251746 130251746 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr9:130251746C>T c.1371C>T c.(1369-1371)ttC>ttT p.F457F SKCM 9 130219603 130219603 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr9:130219603C>T c.183C>T c.(181-183)atC>atT p.I61I SKCM 9 130230109 130230109 + Splice_Site SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 g.chr9:130230109G>A c.619G>A c.(619-621)Gag>Aag p.E207K SKCM 9 130236188 130236188 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr9:130236188C>T c.728C>T c.(727-729)tCa>tTa p.S243L SKCM 9 130248022 130248024 + In_Frame_Del DEL GCA GCA - TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 g.chr9:130248022_130248024delGCA c.1167_1169delGCA c.(1165-1170)atgcag>atg p.Q391del SKCM 9 130251788 130251788 + Silent SNP C C T TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr9:130251788C>T c.1413C>T c.(1411-1413)atC>atT p.I471I SKCM 9 130255173 130255173 + Silent SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr9:130255173C>T c.1596C>T c.(1594-1596)atC>atT p.I532I SKCM 9 130263419 130263419 + Silent SNP G G A TCGA-ER-A19E-06A-11D-A197-08 TCGA-ER-A19E-10A-01D-A199-08 g.chr9:130263419G>A c.2043G>A c.(2041-2043)cgG>cgA p.R681R

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 9 130219650 130219650 single base substitution T C downstream_gene_variant BLCA-CN 9 130219650 130219650 single base substitution T C exon_variant BLCA-CN 9 130219650 130219650 single base substitution T C missense_variant L77P 230T>C BLCA-CN 9 130258319 130258319 single base substitution A C exon_variant BLCA-CN 9 130258319 130258319 single base substitution A C missense_variant H565P 1694A>C BLCA-CN 9 130258319 130258319 single base substitution A C missense_variant H592P 1775A>C BLCA-US 9 130210620 130210620 single base substitution G C upstream_gene_variant BLCA-US 9 130217858 130217858 single base substitution C G downstream_gene_variant BLCA-US 9 130217858 130217858 single base substitution C G intron_variant BLCA-US 9 130217858 130217858 single base substitution C G missense_variant P45A 133C>G BLCA-US 9 130265127 130265127 single base substitution G A downstream_gene_variant BLCA-US 9 130265127 130265127 single base substitution G A exon_variant BLCA-US 9 130265127 130265127 single base substitution G A intron_variant BLCA-US 9 130265127 130265127 single base substitution G A synonymous_variant P680P 2040G>A BLCA-US 9 130265127 130265127 single base substitution G A synonymous_variant P707P 2121G>A BLCA-US 9 130265177 130265177 single base substitution G A downstream_gene_variant BLCA-US 9 130265177 130265177 single base substitution G A exon_variant BLCA-US 9 130265177 130265177 single base substitution G A intron_variant BLCA-US 9 130265177 130265177 single base substitution G A stop_retained_variant *697* 2090G>A BLCA-US 9 130265177 130265177 single base substitution G A stop_retained_variant *724* 2171G>A BLCA-US 9 130269539 130269539 single base substitution G A downstream_gene_variant BRCA-EU 9 130208775 130208775 single base substitution G C upstream_gene_variant BRCA-EU 9 130209295 130209295 single base substitution G T upstream_gene_variant BRCA-EU 9 130209908 130209908 single base substitution C G upstream_gene_variant BRCA-EU 9 130210028 130210028 single base substitution C T upstream_gene_variant BRCA-EU 9 130210569 130210569 deletion of <=200bp A - upstream_gene_variant BRCA-EU 9 130211140 130211140 single base substitution C T upstream_gene_variant BRCA-EU 9 130211915 130211915 single base substitution G T upstream_gene_variant BRCA-EU 9 130212320 130212320 single base substitution C T upstream_gene_variant BRCA-EU 9 130212760 130212760 single base substitution C G upstream_gene_variant BRCA-EU 9 130214129 130214129 single base substitution G C 5_prime_UTR_variant BRCA-EU 9 130214129 130214129 single base substitution G C intron_variant BRCA-EU 9 130214129 130214129 single base substitution G C upstream_gene_variant BRCA-EU 9 130215339 130215339 single base substitution C G intron_variant BRCA-EU 9 130215599 130215599 single base substitution G A intron_variant BRCA-EU 9 130217156 130217156 single base substitution G T downstream_gene_variant BRCA-EU 9 130217156 130217156 single base substitution G T intron_variant BRCA-EU 9 130218195 130218195 single base substitution G A downstream_gene_variant BRCA-EU 9 130218195 130218195 single base substitution G A intron_variant BRCA-EU 9 130220617 130220617 single base substitution C T downstream_gene_variant BRCA-EU 9 130220617 130220617 single base substitution C T intron_variant BRCA-EU 9 130223651 130223651 single base substitution G A downstream_gene_variant BRCA-EU 9 130223651 130223651 single base substitution G A intron_variant BRCA-EU 9 130225636 130225636 single base substitution G T intron_variant BRCA-EU 9 130226617 130226617 single base substitution C T intron_variant BRCA-EU 9 130228969 130228969 deletion of <=200bp T - intron_variant BRCA-EU 9 130233920 130233920 single base substitution G C intron_variant BRCA-EU 9 130233920 130233920 single base substitution G C upstream_gene_variant BRCA-EU 9 130234273 130234273 single base substitution C T intron_variant BRCA-EU 9 130234273 130234273 single base substitution C T upstream_gene_variant BRCA-EU 9 130235295 130235295 single base substitution C G intron_variant BRCA-EU 9 130235295 130235295 single base substitution C G upstream_gene_variant BRCA-EU 9 130237293 130237293 single base substitution G A intron_variant BRCA-EU 9 130237293 130237293 single base substitution G A upstream_gene_variant BRCA-EU 9 130238803 130238803 single base substitution G A intron_variant BRCA-EU 9 130238803 130238803 single base substitution G A upstream_gene_variant BRCA-EU 9 130240138 130240138 deletion of <=200bp C - intron_variant BRCA-EU 9 130240138 130240138 deletion of <=200bp C - upstream_gene_variant BRCA-EU 9 130242175 130242175 single base substitution C T exon_variant BRCA-EU 9 130242175 130242175 single base substitution C T missense_variant R321W 961C>T BRCA-EU 9 130242175 130242175 single base substitution C T upstream_gene_variant BRCA-EU 9 130242206 130242206 single base substitution C T exon_variant BRCA-EU 9 130242206 130242206 single base substitution C T missense_variant T331M 992C>T BRCA-EU 9 130242206 130242206 single base substitution C T upstream_gene_variant BRCA-EU 9 130244960 130244960 single base substitution G A intron_variant BRCA-EU 9 130246188 130246188 single base substitution G A intron_variant BRCA-EU 9 130246457 130246457 single base substitution T C intron_variant BRCA-EU 9 130247829 130247829 single base substitution C T intron_variant BRCA-EU 9 130249174 130249174 single base substitution G C intron_variant BRCA-EU 9 130251543 130251543 single base substitution C T downstream_gene_variant BRCA-EU 9 130251543 130251543 single base substitution C T intron_variant BRCA-EU 9 130251963 130251963 single base substitution C G downstream_gene_variant BRCA-EU 9 130251963 130251963 single base substitution C G intron_variant BRCA-EU 9 130252586 130252586 single base substitution C T downstream_gene_variant BRCA-EU 9 130252586 130252586 single base substitution C T intron_variant BRCA-EU 9 130253189 130253189 single base substitution C A downstream_gene_variant BRCA-EU 9 130253189 130253189 single base substitution C A intron_variant BRCA-EU 9 130253189 130253189 single base substitution C A upstream_gene_variant BRCA-EU 9 130255589 130255589 single base substitution C T intron_variant BRCA-EU 9 130255589 130255589 single base substitution C T upstream_gene_variant BRCA-EU 9 130256538 130256538 single base substitution G A intron_variant BRCA-EU 9 130256538 130256538 single base substitution G A upstream_gene_variant BRCA-EU 9 130257194 130257194 single base substitution C A intron_variant BRCA-EU 9 130257194 130257194 single base substitution C A upstream_gene_variant BRCA-EU 9 130257229 130257229 single base substitution T G intron_variant BRCA-EU 9 130257229 130257229 single base substitution T G upstream_gene_variant BRCA-EU 9 130258355 130258355 single base substitution G C exon_variant BRCA-EU 9 130258355 130258355 single base substitution G C intron_variant BRCA-EU 9 130258355 130258355 single base substitution G C missense_variant S577T 1730G>C BRCA-EU 9 130258355 130258355 single base substitution G C missense_variant S604T 1811G>C BRCA-EU 9 130261686 130261686 single base substitution C T intron_variant BRCA-EU 9 130261756 130261756 single base substitution G C intron_variant BRCA-EU 9 130261997 130261997 single base substitution C G intron_variant BRCA-EU 9 130262328 130262328 single base substitution C T intron_variant BRCA-EU 9 130262653 130262653 single base substitution A G intron_variant BRCA-EU 9 130262949 130262949 single base substitution C A intron_variant BRCA-EU 9 130262966 130262966 single base substitution C T intron_variant BRCA-EU 9 130262993 130262993 single base substitution G C intron_variant BRCA-EU 9 130263706 130263706 single base substitution G C downstream_gene_variant BRCA-EU 9 130263706 130263706 single base substitution G C intron_variant BRCA-EU 9 130264648 130264648 single base substitution C T downstream_gene_variant BRCA-EU 9 130264648 130264648 single base substitution C T intron_variant BRCA-EU 9 130264917 130264917 single base substitution G C downstream_gene_variant BRCA-EU 9 130264917 130264917 single base substitution G C intron_variant BRCA-EU 9 130264953 130264953 single base substitution G A downstream_gene_variant BRCA-EU 9 130264953 130264953 single base substitution G A intron_variant BRCA-EU 9 130265302 130265302 single base substitution C T 3_prime_UTR_variant BRCA-EU 9 130265302 130265302 single base substitution C T downstream_gene_variant BRCA-EU 9 130265302 130265302 single base substitution C T exon_variant BRCA-EU 9 130265302 130265302 single base substitution C T intron_variant BRCA-EU 9 130266422 130266422 single base substitution T A downstream_gene_variant BRCA-EU 9 130267369 130267369 single base substitution G A downstream_gene_variant BRCA-FR 9 130210028 130210028 single base substitution C T upstream_gene_variant BRCA-FR 9 130233920 130233920 single base substitution G C intron_variant BRCA-FR 9 130233920 130233920 single base substitution G C upstream_gene_variant BRCA-FR 9 130242175 130242175 single base substitution C T exon_variant BRCA-FR 9 130242175 130242175 single base substitution C T missense_variant R321W 961C>T BRCA-FR 9 130242175 130242175 single base substitution C T upstream_gene_variant BRCA-FR 9 130246188 130246188 single base substitution G A intron_variant BRCA-FR 9 130257229 130257229 single base substitution T G intron_variant BRCA-FR 9 130257229 130257229 single base substitution T G upstream_gene_variant BRCA-FR 9 130261875 130261875 single base substitution G C intron_variant BRCA-UK 9 130261756 130261756 single base substitution G C intron_variant BRCA-US 9 130210055 130210055 single base substitution A C upstream_gene_variant BRCA-US 9 130210060 130210060 single base substitution A C upstream_gene_variant BRCA-US 9 130210124 130210124 single base substitution A C upstream_gene_variant BRCA-US 9 130211976 130211976 deletion of <=200bp T - upstream_gene_variant BRCA-US 9 130223478 130223478 single base substitution G C downstream_gene_variant BRCA-US 9 130223478 130223478 single base substitution G C synonymous_variant L116L 348G>C BRCA-US 9 130223502 130223502 single base substitution G A downstream_gene_variant BRCA-US 9 130223502 130223502 single base substitution G A synonymous_variant G124G 372G>A BRCA-US 9 130236137 130236137 single base substitution A G missense_variant D226G 677A>G BRCA-US 9 130236137 130236137 single base substitution A G upstream_gene_variant BRCA-US 9 130245270 130245271 deletion of <=200bp CT - exon_variant BRCA-US 9 130245270 130245271 deletion of <=200bp CT - frameshift_variant T377 BRCA-US 9 130249962 130249962 single base substitution G A downstream_gene_variant BRCA-US 9 130249962 130249962 single base substitution G A exon_variant BRCA-US 9 130249962 130249962 single base substitution G A missense_variant E423K 1267G>A BRCA-US 9 130250014 130250014 single base substitution A T downstream_gene_variant BRCA-US 9 130250014 130250014 single base substitution A T exon_variant BRCA-US 9 130250014 130250014 single base substitution A T missense_variant N440I 1319A>T BRCA-US 9 130263396 130263396 single base substitution G C downstream_gene_variant BRCA-US 9 130263396 130263396 single base substitution G C exon_variant BRCA-US 9 130263396 130263396 single base substitution G C intron_variant BRCA-US 9 130263396 130263396 single base substitution G C missense_variant E647Q 1939G>C BRCA-US 9 130263396 130263396 single base substitution G C missense_variant E674Q 2020G>C BTCA-JP 9 130210017 130210017 deletion of <=200bp A - upstream_gene_variant BTCA-JP 9 130212915 130212915 single base substitution C T upstream_gene_variant BTCA-JP 9 130224563 130224563 single base substitution G A downstream_gene_variant BTCA-JP 9 130224563 130224563 single base substitution G A missense_variant G147R 439G>A BTCA-JP 9 130229938 130229938 single base substitution C T intron_variant BTCA-JP 9 130253297 130253297 single base substitution G A downstream_gene_variant BTCA-JP 9 130253297 130253297 single base substitution G A intron_variant BTCA-JP 9 130253297 130253297 single base substitution G A upstream_gene_variant BTCA-JP 9 130253463 130253463 deletion of <=200bp A - downstream_gene_variant BTCA-JP 9 130253463 130253463 deletion of <=200bp A - intron_variant BTCA-JP 9 130253463 130253463 deletion of <=200bp A - upstream_gene_variant BTCA-JP 9 130258289 130258289 single base substitution C T exon_variant BTCA-JP 9 130258289 130258289 single base substitution C T missense_variant S555L 1664C>T BTCA-JP 9 130258289 130258289 single base substitution C T missense_variant S582L 1745C>T BTCA-JP 9 130259471 130259471 single base substitution C G intron_variant CESC-US 9 130210804 130210804 single base substitution G C upstream_gene_variant CESC-US 9 130249962 130249962 single base substitution G A downstream_gene_variant CESC-US 9 130249962 130249962 single base substitution G A exon_variant CESC-US 9 130249962 130249962 single base substitution G A missense_variant E423K 1267G>A CESC-US 9 130251773 130251773 single base substitution G A downstream_gene_variant CESC-US 9 130251773 130251773 single base substitution G A exon_variant CESC-US 9 130251773 130251773 single base substitution G A synonymous_variant L466L 1398G>A CESC-US 9 130257502 130257502 single base substitution G A intron_variant CESC-US 9 130257502 130257502 single base substitution G A upstream_gene_variant CESC-US 9 130257620 130257620 single base substitution G A exon_variant CESC-US 9 130257620 130257620 single base substitution G A intron_variant CESC-US 9 130257620 130257620 single base substitution G A missense_variant E514K 1540G>A CESC-US 9 130257620 130257620 single base substitution G A missense_variant E541K 1621G>A CESC-US 9 130257620 130257620 single base substitution G A upstream_gene_variant CESC-US 9 130257661 130257661 single base substitution G T exon_variant CESC-US 9 130257661 130257661 single base substitution G T intron_variant CESC-US 9 130257661 130257661 single base substitution G T synonymous_variant R527R 1581G>T CESC-US 9 130257661 130257661 single base substitution G T synonymous_variant R554R 1662G>T CESC-US 9 130259564 130259564 single base substitution G C exon_variant CESC-US 9 130259564 130259564 single base substitution G C intron_variant CESC-US 9 130259564 130259564 single base substitution G C missense_variant E594D 1782G>C CESC-US 9 130259564 130259564 single base substitution G C missense_variant E621D 1863G>C CESC-US 9 130263375 130263375 single base substitution G A downstream_gene_variant CESC-US 9 130263375 130263375 single base substitution G A exon_variant CESC-US 9 130263375 130263375 single base substitution G A intron_variant CESC-US 9 130263375 130263375 single base substitution G A missense_variant E640K 1918G>A CESC-US 9 130263375 130263375 single base substitution G A missense_variant E667K 1999G>A CLLE-ES 9 130250686 130250686 single base substitution A T downstream_gene_variant CLLE-ES 9 130250686 130250686 single base substitution A T intron_variant COAD-US 9 130210156 130210156 single base substitution G A upstream_gene_variant COAD-US 9 130211976 130211976 deletion of <=200bp T - upstream_gene_variant COCA-CN 9 130210292 130210292 single base substitution T C upstream_gene_variant COCA-CN 9 130216313 130216313 single base substitution T C downstream_gene_variant COCA-CN 9 130216313 130216313 single base substitution T C intron_variant COCA-CN 9 130216326 130216326 single base substitution A C downstream_gene_variant COCA-CN 9 130216326 130216326 single base substitution A C intron_variant COCA-CN 9 130216713 130216713 single base substitution T A downstream_gene_variant COCA-CN 9 130216713 130216713 single base substitution T A intron_variant COCA-CN 9 130216951 130216951 single base substitution G T downstream_gene_variant COCA-CN 9 130216951 130216951 single base substitution G T intron_variant COCA-CN 9 130218372 130218372 single base substitution G T downstream_gene_variant COCA-CN 9 130218372 130218372 single base substitution G T intron_variant COCA-CN 9 130220673 130220673 single base substitution C A downstream_gene_variant COCA-CN 9 130220673 130220673 single base substitution C A intron_variant COCA-CN 9 130220698 130220698 single base substitution C A downstream_gene_variant COCA-CN 9 130220698 130220698 single base substitution C A intron_variant COCA-CN 9 130221918 130221918 single base substitution A G downstream_gene_variant COCA-CN 9 130221918 130221918 single base substitution A G intron_variant COCA-CN 9 130224572 130224572 single base substitution C T downstream_gene_variant COCA-CN 9 130224572 130224572 single base substitution C T stop_gained R150* 448C>T COCA-CN 9 130226663 130226663 single base substitution G A intron_variant COCA-CN 9 130226667 130226667 single base substitution A G intron_variant COCA-CN 9 130226675 130226675 single base substitution C T intron_variant COCA-CN 9 130229353 130229353 single base substitution G A intron_variant COCA-CN 9 130229375 130229375 single base substitution A G intron_variant COCA-CN 9 130229392 130229392 single base substitution T C intron_variant COCA-CN 9 130229686 130229686 single base substitution T C intron_variant COCA-CN 9 130229770 130229770 single base substitution G C intron_variant COCA-CN 9 130234371 130234371 single base substitution G A intron_variant COCA-CN 9 130234371 130234371 single base substitution G A upstream_gene_variant COCA-CN 9 130244993 130244993 single base substitution C A intron_variant COCA-CN 9 130245422 130245422 single base substitution T C intron_variant COCA-CN 9 130253320 130253320 single base substitution C A downstream_gene_variant COCA-CN 9 130253320 130253320 single base substitution C A intron_variant COCA-CN 9 130253320 130253320 single base substitution C A upstream_gene_variant COCA-CN 9 130263404 130263404 single base substitution C T downstream_gene_variant COCA-CN 9 130263404 130263404 single base substitution C T exon_variant COCA-CN 9 130263404 130263404 single base substitution C T intron_variant COCA-CN 9 130263404 130263404 single base substitution C T synonymous_variant V649V 1947C>T COCA-CN 9 130263404 130263404 single base substitution C T synonymous_variant V676V 2028C>T COCA-CN 9 130265116 130265116 single base substitution C T downstream_gene_variant COCA-CN 9 130265116 130265116 single base substitution C T exon_variant COCA-CN 9 130265116 130265116 single base substitution C T intron_variant COCA-CN 9 130265116 130265116 single base substitution C T missense_variant R677C 2029C>T COCA-CN 9 130265116 130265116 single base substitution C T missense_variant R704C 2110C>T COCA-CN 9 130269555 130269555 single base substitution G A downstream_gene_variant COCA-CN 9 130270142 130270142 single base substitution C T downstream_gene_variant COCA-CN 9 130270193 130270193 single base substitution G A downstream_gene_variant COCA-CN 9 130270436 130270436 single base substitution C T downstream_gene_variant EOPC-DE 9 130209637 130209637 single base substitution T C upstream_gene_variant EOPC-DE 9 130247978 130247978 single base substitution C T intron_variant EOPC-DE 9 130265629 130265629 single base substitution G T 3_prime_UTR_variant EOPC-DE 9 130265629 130265629 single base substitution G T downstream_gene_variant EOPC-DE 9 130265629 130265629 single base substitution G T exon_variant ESAD-UK 9 130211216 130211216 single base substitution T C upstream_gene_variant ESAD-UK 9 130215170 130215170 single base substitution T G intron_variant ESAD-UK 9 130216120 130216120 single base substitution G A exon_variant ESAD-UK 9 130216120 130216120 single base substitution G A intron_variant ESAD-UK 9 130218022 130218022 single base substitution C G downstream_gene_variant ESAD-UK 9 130218022 130218022 single base substitution C G intron_variant ESAD-UK 9 130219091 130219091 single base substitution G A downstream_gene_variant ESAD-UK 9 130219091 130219091 single base substitution G A intron_variant ESAD-UK 9 130221395 130221395 single base substitution G C downstream_gene_variant ESAD-UK 9 130221395 130221395 single base substitution G C intron_variant ESAD-UK 9 130222754 130222754 single base substitution A C downstream_gene_variant ESAD-UK 9 130222754 130222754 single base substitution A C intron_variant ESAD-UK 9 130226586 130226586 single base substitution G A intron_variant ESAD-UK 9 130227318 130227318 single base substitution T C intron_variant ESAD-UK 9 130227870 130227870 single base substitution G C intron_variant ESAD-UK 9 130228586 130228586 insertion of <=200bp - A intron_variant ESAD-UK 9 130231027 130231027 single base substitution G T intron_variant ESAD-UK 9 130232112 130232112 single base substitution C T intron_variant ESAD-UK 9 130232112 130232112 single base substitution C T upstream_gene_variant ESAD-UK 9 130234052 130234052 single base substitution C G intron_variant ESAD-UK 9 130234052 130234052 single base substitution C G upstream_gene_variant ESAD-UK 9 130234302 130234302 single base substitution G A intron_variant ESAD-UK 9 130234302 130234302 single base substitution G A upstream_gene_variant ESAD-UK 9 130236176 130236176 single base substitution C T missense_variant T239M 716C>T ESAD-UK 9 130236176 130236176 single base substitution C T upstream_gene_variant ESAD-UK 9 130237293 130237293 single base substitution G A intron_variant ESAD-UK 9 130237293 130237293 single base substitution G A upstream_gene_variant ESAD-UK 9 130238354 130238354 single base substitution C T intron_variant ESAD-UK 9 130238354 130238354 single base substitution C T upstream_gene_variant ESAD-UK 9 130246028 130246028 single base substitution C T intron_variant ESAD-UK 9 130246148 130246148 single base substitution G A intron_variant ESAD-UK 9 130249851 130249851 single base substitution C T downstream_gene_variant ESAD-UK 9 130249851 130249851 single base substitution C T intron_variant ESAD-UK 9 130252609 130252609 single base substitution G A downstream_gene_variant ESAD-UK 9 130252609 130252609 single base substitution G A intron_variant ESAD-UK 9 130253971 130253971 single base substitution G C downstream_gene_variant ESAD-UK 9 130253971 130253971 single base substitution G C intron_variant ESAD-UK 9 130253971 130253971 single base substitution G C upstream_gene_variant ESAD-UK 9 130261035 130261035 single base substitution T C intron_variant ESAD-UK 9 130263315 130263315 single base substitution G A exon_variant ESAD-UK 9 130263315 130263315 single base substitution G A intron_variant ESAD-UK 9 130263315 130263315 single base substitution G A missense_variant V620I 1858G>A ESAD-UK 9 130263315 130263315 single base substitution G A missense_variant V647I 1939G>A ESAD-UK 9 130264113 130264113 single base substitution G A downstream_gene_variant ESAD-UK 9 130264113 130264113 single base substitution G A intron_variant ESAD-UK 9 130268437 130268437 single base substitution T C downstream_gene_variant ESAD-UK 9 130270005 130270005 single base substitution G A downstream_gene_variant ESCA-CN 9 130216951 130216951 single base substitution G T downstream_gene_variant ESCA-CN 9 130216951 130216951 single base substitution G T intron_variant ESCA-CN 9 130236243 130236243 single base substitution G A intron_variant KIRC-US 9 130241215 130241215 single base substitution C T splice_region_variant KIRC-US 9 130241215 130241215 single base substitution C T upstream_gene_variant KIRP-US 9 130213582 130213582 single base substitution G A upstream_gene_variant LAML-KR 9 130213508 130213508 single base substitution A G upstream_gene_variant LAML-KR 9 130216639 130216639 single base substitution G A downstream_gene_variant LAML-KR 9 130216639 130216639 single base substitution G A intron_variant LAML-KR 9 130217476 130217476 single base substitution C T downstream_gene_variant LAML-KR 9 130217476 130217476 single base substitution C T intron_variant LAML-KR 9 130259618 130259618 single base substitution A C intron_variant LAML-KR 9 130259618 130259618 single base substitution A C splice_region_variant LAML-KR 9 130259656 130259656 single base substitution G A intron_variant LICA-CN 9 130223536 130223536 single base substitution G T downstream_gene_variant LICA-CN 9 130223536 130223536 single base substitution G T missense_variant D136Y 406G>T LICA-FR 9 130213023 130213023 single base substitution C G upstream_gene_variant LICA-FR 9 130229442 130229442 single base substitution T C intron_variant LICA-FR 9 130235300 130235300 single base substitution C A intron_variant LICA-FR 9 130235300 130235300 single base substitution C A upstream_gene_variant LICA-FR 9 130241744 130241744 single base substitution G A exon_variant LICA-FR 9 130241744 130241744 single base substitution G A missense_variant S288N 863G>A LICA-FR 9 130241744 130241744 single base substitution G A upstream_gene_variant LICA-FR 9 130241747 130241747 single base substitution G T exon_variant LICA-FR 9 130241747 130241747 single base substitution G T missense_variant S289I 866G>T LICA-FR 9 130241747 130241747 single base substitution G T upstream_gene_variant LICA-FR 9 130242257 130242257 single base substitution G A missense_variant R348K 1043G>A LICA-FR 9 130242257 130242257 single base substitution G A splice_region_variant LICA-FR 9 130244509 130244509 single base substitution C T intron_variant LICA-FR 9 130246702 130246702 single base substitution G A intron_variant LICA-FR 9 130269193 130269193 single base substitution G T downstream_gene_variant LICA-FR 9 130269471 130269471 single base substitution C T downstream_gene_variant LIHC-US 9 130242224 130242224 single base substitution G T exon_variant LIHC-US 9 130242224 130242224 single base substitution G T missense_variant S337I 1010G>T LIHC-US 9 130242224 130242224 single base substitution G T upstream_gene_variant LIHC-US 9 130242226 130242226 single base substitution C T exon_variant LIHC-US 9 130242226 130242226 single base substitution C T missense_variant R338W 1012C>T LIHC-US 9 130242226 130242226 single base substitution C T upstream_gene_variant LINC-JP 9 130210190 130210190 single base substitution T A upstream_gene_variant LINC-JP 9 130210640 130210640 single base substitution G C upstream_gene_variant LINC-JP 9 130210810 130210810 single base substitution T C upstream_gene_variant LINC-JP 9 130211911 130211911 single base substitution G C upstream_gene_variant LINC-JP 9 130218224 130218224 single base substitution G A downstream_gene_variant LINC-JP 9 130218224 130218224 single base substitution G A intron_variant LINC-JP 9 130223126 130223126 single base substitution C T downstream_gene_variant LINC-JP 9 130223126 130223126 single base substitution C T intron_variant LINC-JP 9 130224342 130224342 single base substitution A G downstream_gene_variant LINC-JP 9 130224342 130224342 single base substitution A G intron_variant LINC-JP 9 130229746 130229746 single base substitution G C intron_variant LINC-JP 9 130230829 130230829 single base substitution A T intron_variant LINC-JP 9 130242060 130242060 single base substitution A G intron_variant LINC-JP 9 130242060 130242060 single base substitution A G upstream_gene_variant LINC-JP 9 130251628 130251628 single base substitution G A downstream_gene_variant LINC-JP 9 130251628 130251628 single base substitution G A intron_variant LINC-JP 9 130257775 130257775 single base substitution T G intron_variant LINC-JP 9 130258289 130258289 single base substitution C T exon_variant LINC-JP 9 130258289 130258289 single base substitution C T missense_variant S555L 1664C>T LINC-JP 9 130258289 130258289 single base substitution C T missense_variant S582L 1745C>T LIRI-JP 9 130208933 130208933 single base substitution C A upstream_gene_variant LIRI-JP 9 130209764 130209764 single base substitution C T upstream_gene_variant LIRI-JP 9 130215119 130215119 single base substitution T A intron_variant LIRI-JP 9 130215382 130215382 single base substitution A T intron_variant LIRI-JP 9 130217517 130217517 single base substitution C T downstream_gene_variant LIRI-JP 9 130217517 130217517 single base substitution C T intron_variant LIRI-JP 9 130222020 130222020 single base substitution T C downstream_gene_variant LIRI-JP 9 130222020 130222020 single base substitution T C intron_variant LIRI-JP 9 130222787 130222787 single base substitution T A downstream_gene_variant LIRI-JP 9 130222787 130222787 single base substitution T A intron_variant LIRI-JP 9 130228444 130228444 single base substitution C T intron_variant LIRI-JP 9 130228738 130228738 single base substitution C G intron_variant LIRI-JP 9 130232512 130232512 single base substitution A G intron_variant LIRI-JP 9 130232512 130232512 single base substitution A G upstream_gene_variant LIRI-JP 9 130233349 130233349 single base substitution G T intron_variant LIRI-JP 9 130233349 130233349 single base substitution G T upstream_gene_variant LIRI-JP 9 130234103 130234103 single base substitution G T intron_variant LIRI-JP 9 130234103 130234103 single base substitution G T upstream_gene_variant LIRI-JP 9 130235018 130235018 single base substitution A G intron_variant LIRI-JP 9 130235018 130235018 single base substitution A G upstream_gene_variant LIRI-JP 9 130237043 130237043 single base substitution T A intron_variant LIRI-JP 9 130237043 130237043 single base substitution T A upstream_gene_variant LIRI-JP 9 130237551 130237551 single base substitution C T intron_variant LIRI-JP 9 130237551 130237551 single base substitution C T upstream_gene_variant LIRI-JP 9 130238363 130238363 single base substitution C T intron_variant LIRI-JP 9 130238363 130238363 single base substitution C T upstream_gene_variant LIRI-JP 9 130241657 130241657 single base substitution T C splice_region_variant LIRI-JP 9 130241657 130241657 single base substitution T C upstream_gene_variant LIRI-JP 9 130243065 130243065 single base substitution C G intron_variant LIRI-JP 9 130247383 130247383 single base substitution G A intron_variant LIRI-JP 9 130248993 130248993 single base substitution T C intron_variant LIRI-JP 9 130251657 130251657 single base substitution A G downstream_gene_variant LIRI-JP 9 130251657 130251657 single base substitution A G intron_variant LIRI-JP 9 130252914 130252914 single base substitution G A downstream_gene_variant LIRI-JP 9 130252914 130252914 single base substitution G A intron_variant LIRI-JP 9 130252914 130252914 single base substitution G A upstream_gene_variant LIRI-JP 9 130254065 130254065 single base substitution G T downstream_gene_variant LIRI-JP 9 130254065 130254065 single base substitution G T intron_variant LIRI-JP 9 130254065 130254065 single base substitution G T upstream_gene_variant LIRI-JP 9 130256564 130256564 single base substitution A G intron_variant LIRI-JP 9 130256564 130256564 single base substitution A G upstream_gene_variant LIRI-JP 9 130257108 130257108 single base substitution C T intron_variant LIRI-JP 9 130257108 130257108 single base substitution C T upstream_gene_variant LIRI-JP 9 130259238 130259238 single base substitution G A intron_variant LIRI-JP 9 130260069 130260069 single base substitution G T intron_variant LUSC-CN 9 130209866 130209866 single base substitution T A upstream_gene_variant LUSC-KR 9 130213110 130213110 single base substitution G C upstream_gene_variant LUSC-KR 9 130214369 130214369 single base substitution C G intron_variant LUSC-KR 9 130214369 130214369 single base substitution C G splice_region_variant LUSC-KR 9 130214369 130214369 single base substitution C G upstream_gene_variant LUSC-KR 9 130216453 130216453 single base substitution T C downstream_gene_variant LUSC-KR 9 130216453 130216453 single base substitution T C intron_variant LUSC-KR 9 130216856 130216856 single base substitution G A downstream_gene_variant LUSC-KR 9 130216856 130216856 single base substitution G A exon_variant LUSC-KR 9 130216856 130216856 single base substitution G A missense_variant R17H 50G>A LUSC-KR 9 130217024 130217024 single base substitution G C downstream_gene_variant LUSC-KR 9 130217024 130217024 single base substitution G C intron_variant LUSC-KR 9 130219610 130219610 single base substitution A G downstream_gene_variant LUSC-KR 9 130219610 130219610 single base substitution A G exon_variant LUSC-KR 9 130219610 130219610 single base substitution A G missense_variant T64A 190A>G LUSC-KR 9 130220137 130220137 single base substitution G T downstream_gene_variant LUSC-KR 9 130220137 130220137 single base substitution G T intron_variant LUSC-KR 9 130221297 130221297 single base substitution G T downstream_gene_variant LUSC-KR 9 130221297 130221297 single base substitution G T missense_variant D90Y 268G>T LUSC-KR 9 130224204 130224204 single base substitution G T downstream_gene_variant LUSC-KR 9 130224204 130224204 single base substitution G T intron_variant LUSC-KR 9 130224496 130224496 single base substitution T G downstream_gene_variant LUSC-KR 9 130224496 130224496 single base substitution T G intron_variant LUSC-KR 9 130231469 130231469 single base substitution A T intron_variant LUSC-KR 9 130231469 130231469 single base substitution A T upstream_gene_variant LUSC-KR 9 130234589 130234589 single base substitution T C intron_variant LUSC-KR 9 130234589 130234589 single base substitution T C upstream_gene_variant LUSC-KR 9 130234590 130234590 single base substitution A G intron_variant LUSC-KR 9 130234590 130234590 single base substitution A G upstream_gene_variant LUSC-KR 9 130234624 130234624 single base substitution A G intron_variant LUSC-KR 9 130234624 130234624 single base substitution A G upstream_gene_variant LUSC-KR 9 130244271 130244271 single base substitution A T intron_variant LUSC-KR 9 130266169 130266169 single base substitution G A downstream_gene_variant LUSC-KR 9 130268604 130268604 single base substitution C A downstream_gene_variant LUSC-US 9 130217333 130217333 single base substitution G T downstream_gene_variant LUSC-US 9 130217333 130217333 single base substitution G T missense_variant E43D 129G>T LUSC-US 9 130217333 130217333 single base substitution G T splice_region_variant LUSC-US 9 130258289 130258289 single base substitution C A exon_variant LUSC-US 9 130258289 130258289 single base substitution C A stop_gained S555* 1664C>A LUSC-US 9 130258289 130258289 single base substitution C A stop_gained S582* 1745C>A MALY-DE 9 130212299 130212299 single base substitution C G upstream_gene_variant MALY-DE 9 130212488 130212488 single base substitution C T upstream_gene_variant MALY-DE 9 130212947 130212947 single base substitution C T upstream_gene_variant MALY-DE 9 130213185 130213185 single base substitution G A upstream_gene_variant MALY-DE 9 130218158 130218158 single base substitution C A downstream_gene_variant MALY-DE 9 130218158 130218158 single base substitution C A intron_variant MALY-DE 9 130221169 130221169 single base substitution C T downstream_gene_variant MALY-DE 9 130221169 130221169 single base substitution C T intron_variant MALY-DE 9 130227640 130227640 single base substitution G A intron_variant MALY-DE 9 130228868 130228868 single base substitution G A intron_variant MALY-DE 9 130231293 130231293 single base substitution C T intron_variant MALY-DE 9 130231293 130231293 single base substitution C T upstream_gene_variant MALY-DE 9 130236202 130236202 single base substitution G A missense_variant E248K 742G>A MALY-DE 9 130236202 130236202 single base substitution G A upstream_gene_variant MALY-DE 9 130245186 130245186 single base substitution G A intron_variant MALY-DE 9 130252311 130252311 single base substitution A T downstream_gene_variant MALY-DE 9 130252311 130252311 single base substitution A T intron_variant MALY-DE 9 130262500 130262500 single base substitution C T intron_variant MALY-DE 9 130263417 130263417 single base substitution C T downstream_gene_variant MALY-DE 9 130263417 130263417 single base substitution C T exon_variant MALY-DE 9 130263417 130263417 single base substitution C T intron_variant MALY-DE 9 130263417 130263417 single base substitution C T missense_variant R654W 1960C>T MALY-DE 9 130263417 130263417 single base substitution C T missense_variant R681W 2041C>T MALY-DE 9 130266023 130266023 insertion of <=200bp - AA downstream_gene_variant MELA-AU 9 130211035 130211035 single base substitution T C upstream_gene_variant MELA-AU 9 130211470 130211470 single base substitution C T upstream_gene_variant MELA-AU 9 130213689 130213689 single base substitution G A upstream_gene_variant MELA-AU 9 130213700 130213700 single base substitution G A upstream_gene_variant MELA-AU 9 130213763 130213763 single base substitution C T upstream_gene_variant MELA-AU 9 130214419 130214419 single base substitution C T intron_variant MELA-AU 9 130214419 130214419 single base substitution C T upstream_gene_variant MELA-AU 9 130215950 130215950 single base substitution G A exon_variant MELA-AU 9 130215950 130215950 single base substitution G A intron_variant MELA-AU 9 130216119 130216119 single base substitution C T exon_variant MELA-AU 9 130216119 130216119 single base substitution C T intron_variant MELA-AU 9 130216481 130216481 single base substitution C T downstream_gene_variant MELA-AU 9 130216481 130216481 single base substitution C T intron_variant MELA-AU 9 130216524 130216524 single base substitution C T downstream_gene_variant MELA-AU 9 130216524 130216524 single base substitution C T intron_variant MELA-AU 9 130217702 130217702 single base substitution C T downstream_gene_variant MELA-AU 9 130217702 130217702 single base substitution C T intron_variant MELA-AU 9 130217757 130217757 single base substitution C T downstream_gene_variant MELA-AU 9 130217757 130217757 single base substitution C T intron_variant MELA-AU 9 130217984 130217985 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 9 130217984 130217985 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 130218189 130218189 single base substitution C T downstream_gene_variant MELA-AU 9 130218189 130218189 single base substitution C T intron_variant MELA-AU 9 130218472 130218472 single base substitution C T downstream_gene_variant MELA-AU 9 130218472 130218472 single base substitution C T intron_variant MELA-AU 9 130218554 130218554 single base substitution C T downstream_gene_variant MELA-AU 9 130218554 130218554 single base substitution C T intron_variant MELA-AU 9 130218633 130218633 single base substitution C T downstream_gene_variant MELA-AU 9 130218633 130218633 single base substitution C T intron_variant MELA-AU 9 130218759 130218759 single base substitution C T downstream_gene_variant MELA-AU 9 130218759 130218759 single base substitution C T intron_variant MELA-AU 9 130218997 130218997 single base substitution C T downstream_gene_variant MELA-AU 9 130218997 130218997 single base substitution C T intron_variant MELA-AU 9 130219238 130219241 deletion of <=200bp TTTA - downstream_gene_variant MELA-AU 9 130219238 130219241 deletion of <=200bp TTTA - intron_variant MELA-AU 9 130221331 130221331 single base substitution G A downstream_gene_variant MELA-AU 9 130221331 130221331 single base substitution G A missense_variant G101E 302G>A MELA-AU 9 130222372 130222372 single base substitution G A downstream_gene_variant MELA-AU 9 130222372 130222372 single base substitution G A intron_variant MELA-AU 9 130222475 130222475 single base substitution C T downstream_gene_variant MELA-AU 9 130222475 130222475 single base substitution C T intron_variant MELA-AU 9 130222512 130222512 single base substitution C T downstream_gene_variant MELA-AU 9 130222512 130222512 single base substitution C T intron_variant MELA-AU 9 130222536 130222536 single base substitution C T downstream_gene_variant MELA-AU 9 130222536 130222536 single base substitution C T intron_variant MELA-AU 9 130222691 130222691 single base substitution C T downstream_gene_variant MELA-AU 9 130222691 130222691 single base substitution C T intron_variant MELA-AU 9 130223510 130223510 single base substitution C T downstream_gene_variant MELA-AU 9 130223510 130223510 single base substitution C T missense_variant T127I 380C>T MELA-AU 9 130223676 130223676 single base substitution C T downstream_gene_variant MELA-AU 9 130223676 130223676 single base substitution C T intron_variant MELA-AU 9 130223686 130223686 single base substitution C T downstream_gene_variant MELA-AU 9 130223686 130223686 single base substitution C T intron_variant MELA-AU 9 130223729 130223729 single base substitution C T downstream_gene_variant MELA-AU 9 130223729 130223729 single base substitution C T intron_variant MELA-AU 9 130224008 130224008 single base substitution A C downstream_gene_variant MELA-AU 9 130224008 130224008 single base substitution A C intron_variant MELA-AU 9 130224120 130224120 single base substitution C T downstream_gene_variant MELA-AU 9 130224120 130224120 single base substitution C T intron_variant MELA-AU 9 130224477 130224477 single base substitution G A downstream_gene_variant MELA-AU 9 130224477 130224477 single base substitution G A intron_variant MELA-AU 9 130224703 130224703 single base substitution C T intron_variant MELA-AU 9 130224765 130224765 single base substitution C T intron_variant MELA-AU 9 130224820 130224820 single base substitution T A intron_variant MELA-AU 9 130224994 130224994 single base substitution T A intron_variant MELA-AU 9 130225664 130225665 multiple base substitution (>=2bp and <=200bp) CC TG intron_variant MELA-AU 9 130226136 130226136 single base substitution C T intron_variant MELA-AU 9 130226174 130226174 single base substitution C A intron_variant MELA-AU 9 130226795 130226795 single base substitution C T intron_variant MELA-AU 9 130226836 130226836 single base substitution C T intron_variant MELA-AU 9 130227195 130227195 single base substitution A C intron_variant MELA-AU 9 130227283 130227283 single base substitution C T intron_variant MELA-AU 9 130228013 130228013 single base substitution C T intron_variant MELA-AU 9 130229523 130229523 single base substitution T C intron_variant MELA-AU 9 130229600 130229600 single base substitution G A intron_variant MELA-AU 9 130230278 130230278 single base substitution G A intron_variant MELA-AU 9 130231556 130231556 single base substitution C T intron_variant MELA-AU 9 130231556 130231556 single base substitution C T upstream_gene_variant MELA-AU 9 130231864 130231864 single base substitution G T intron_variant MELA-AU 9 130231864 130231864 single base substitution G T upstream_gene_variant MELA-AU 9 130232728 130232728 single base substitution C T intron_variant MELA-AU 9 130232728 130232728 single base substitution C T upstream_gene_variant MELA-AU 9 130233537 130233537 single base substitution C T intron_variant MELA-AU 9 130233537 130233537 single base substitution C T upstream_gene_variant MELA-AU 9 130233850 130233850 single base substitution G A intron_variant MELA-AU 9 130233850 130233850 single base substitution G A upstream_gene_variant MELA-AU 9 130234278 130234278 single base substitution T C intron_variant MELA-AU 9 130234278 130234278 single base substitution T C upstream_gene_variant MELA-AU 9 130234649 130234649 single base substitution G A intron_variant MELA-AU 9 130234649 130234649 single base substitution G A upstream_gene_variant MELA-AU 9 130234752 130234752 single base substitution C T intron_variant MELA-AU 9 130234752 130234752 single base substitution C T upstream_gene_variant MELA-AU 9 130235660 130235660 single base substitution G A intron_variant MELA-AU 9 130235660 130235660 single base substitution G A upstream_gene_variant MELA-AU 9 130235905 130235905 single base substitution C T intron_variant MELA-AU 9 130235905 130235905 single base substitution C T upstream_gene_variant MELA-AU 9 130236000 130236001 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 130236000 130236001 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 9 130236748 130236748 single base substitution G A intron_variant MELA-AU 9 130236748 130236748 single base substitution G A upstream_gene_variant MELA-AU 9 130236783 130236783 single base substitution T C intron_variant MELA-AU 9 130236783 130236783 single base substitution T C upstream_gene_variant MELA-AU 9 130236858 130236858 single base substitution G A intron_variant MELA-AU 9 130236858 130236858 single base substitution G A upstream_gene_variant MELA-AU 9 130237056 130237056 single base substitution C T intron_variant MELA-AU 9 130237056 130237056 single base substitution C T upstream_gene_variant MELA-AU 9 130237285 130237285 single base substitution C G intron_variant MELA-AU 9 130237285 130237285 single base substitution C G upstream_gene_variant MELA-AU 9 130237699 130237699 single base substitution G A intron_variant MELA-AU 9 130237699 130237699 single base substitution G A upstream_gene_variant MELA-AU 9 130238164 130238164 single base substitution G A intron_variant MELA-AU 9 130238164 130238164 single base substitution G A upstream_gene_variant MELA-AU 9 130238334 130238334 single base substitution C T intron_variant MELA-AU 9 130238334 130238334 single base substitution C T upstream_gene_variant MELA-AU 9 130239149 130239149 single base substitution T C intron_variant MELA-AU 9 130239149 130239149 single base substitution T C upstream_gene_variant MELA-AU 9 130240160 130240160 single base substitution C T intron_variant MELA-AU 9 130240160 130240160 single base substitution C T upstream_gene_variant MELA-AU 9 130240210 130240210 single base substitution C T intron_variant MELA-AU 9 130240210 130240210 single base substitution C T upstream_gene_variant MELA-AU 9 130240325 130240325 single base substitution C T intron_variant MELA-AU 9 130240325 130240325 single base substitution C T upstream_gene_variant MELA-AU 9 130241140 130241140 single base substitution G A intron_variant MELA-AU 9 130241140 130241140 single base substitution G A upstream_gene_variant MELA-AU 9 130241144 130241144 single base substitution C T intron_variant MELA-AU 9 130241144 130241144 single base substitution C T upstream_gene_variant MELA-AU 9 130241183 130241183 single base substitution C T intron_variant MELA-AU 9 130241183 130241183 single base substitution C T upstream_gene_variant MELA-AU 9 130241269 130241269 single base substitution C T intron_variant MELA-AU 9 130241269 130241269 single base substitution C T upstream_gene_variant MELA-AU 9 130242693 130242693 single base substitution G A intron_variant MELA-AU 9 130245879 130245879 single base substitution C T intron_variant MELA-AU 9 130246063 130246063 single base substitution C T intron_variant MELA-AU 9 130246237 130246237 single base substitution G A intron_variant MELA-AU 9 130246952 130246952 single base substitution A T intron_variant MELA-AU 9 130248151 130248151 single base substitution G A intron_variant MELA-AU 9 130248329 130248329 single base substitution C T intron_variant MELA-AU 9 130248426 130248426 single base substitution T C intron_variant MELA-AU 9 130248651 130248651 single base substitution C T intron_variant MELA-AU 9 130249740 130249740 single base substitution C T intron_variant MELA-AU 9 130249761 130249762 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 130250289 130250289 single base substitution C T downstream_gene_variant MELA-AU 9 130250289 130250289 single base substitution C T intron_variant MELA-AU 9 130250474 130250474 single base substitution G A downstream_gene_variant MELA-AU 9 130250474 130250474 single base substitution G A intron_variant MELA-AU 9 130250524 130250524 single base substitution A C downstream_gene_variant MELA-AU 9 130250524 130250524 single base substitution A C intron_variant MELA-AU 9 130250786 130250786 single base substitution C T downstream_gene_variant MELA-AU 9 130250786 130250786 single base substitution C T intron_variant MELA-AU 9 130251274 130251274 single base substitution C T downstream_gene_variant MELA-AU 9 130251274 130251274 single base substitution C T intron_variant MELA-AU 9 130252336 130252336 single base substitution C T downstream_gene_variant MELA-AU 9 130252336 130252336 single base substitution C T intron_variant MELA-AU 9 130254057 130254057 single base substitution G A downstream_gene_variant MELA-AU 9 130254057 130254057 single base substitution G A intron_variant MELA-AU 9 130254057 130254057 single base substitution G A upstream_gene_variant MELA-AU 9 130254129 130254129 single base substitution A T downstream_gene_variant MELA-AU 9 130254129 130254129 single base substitution A T intron_variant MELA-AU 9 130254129 130254129 single base substitution A T upstream_gene_variant MELA-AU 9 130254212 130254212 single base substitution G A downstream_gene_variant MELA-AU 9 130254212 130254212 single base substitution G A intron_variant MELA-AU 9 130254212 130254212 single base substitution G A upstream_gene_variant MELA-AU 9 130255173 130255173 single base substitution C T exon_variant MELA-AU 9 130255173 130255173 single base substitution C T synonymous_variant I505I 1515C>T MELA-AU 9 130255173 130255173 single base substitution C T synonymous_variant I532I 1596C>T MELA-AU 9 130255173 130255173 single base substitution C T upstream_gene_variant MELA-AU 9 130255905 130255905 single base substitution A G intron_variant MELA-AU 9 130255905 130255905 single base substitution A G upstream_gene_variant MELA-AU 9 130258039 130258039 single base substitution T C intron_variant MELA-AU 9 130259441 130259441 single base substitution G A intron_variant MELA-AU 9 130260119 130260119 single base substitution C T intron_variant MELA-AU 9 130260298 130260298 single base substitution C T intron_variant MELA-AU 9 130260472 130260472 single base substitution C T intron_variant MELA-AU 9 130260477 130260477 single base substitution G C intron_variant MELA-AU 9 130260552 130260552 single base substitution C T intron_variant MELA-AU 9 130261207 130261207 single base substitution G A intron_variant MELA-AU 9 130261230 130261230 single base substitution G C intron_variant MELA-AU 9 130262533 130262533 single base substitution G A intron_variant MELA-AU 9 130262710 130262710 single base substitution C T intron_variant MELA-AU 9 130263248 130263249 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 130263301 130263301 single base substitution C T exon_variant MELA-AU 9 130263301 130263301 single base substitution C T intron_variant MELA-AU 9 130263301 130263301 single base substitution C T missense_variant P615L 1844C>T MELA-AU 9 130263301 130263301 single base substitution C T missense_variant P642L 1925C>T MELA-AU 9 130264556 130264556 single base substitution G A downstream_gene_variant MELA-AU 9 130264556 130264556 single base substitution G A intron_variant MELA-AU 9 130265050 130265050 single base substitution C T downstream_gene_variant MELA-AU 9 130265050 130265050 single base substitution C T intron_variant MELA-AU 9 130265812 130265812 single base substitution G A downstream_gene_variant MELA-AU 9 130266009 130266009 single base substitution T C downstream_gene_variant MELA-AU 9 130266452 130266452 single base substitution C A downstream_gene_variant MELA-AU 9 130266918 130266918 single base substitution G A downstream_gene_variant MELA-AU 9 130267768 130267768 single base substitution C T downstream_gene_variant MELA-AU 9 130268739 130268739 single base substitution G A downstream_gene_variant MELA-AU 9 130268805 130268806 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 9 130269320 130269320 single base substitution G A downstream_gene_variant MELA-AU 9 130269426 130269426 single base substitution G A downstream_gene_variant MELA-AU 9 130269727 130269727 single base substitution G A downstream_gene_variant MELA-AU 9 130270384 130270384 insertion of <=200bp - A downstream_gene_variant MELA-AU 9 130270407 130270408 multiple base substitution (>=2bp and <=200bp) AC TA downstream_gene_variant MELA-AU 9 130270409 130270409 single base substitution G A downstream_gene_variant MELA-AU 9 130270487 130270487 single base substitution G A downstream_gene_variant MELA-AU 9 130270650 130270651 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant ORCA-IN 9 130221324 130221324 single base substitution G T downstream_gene_variant ORCA-IN 9 130221324 130221324 single base substitution G T missense_variant D99Y 295G>T ORCA-IN 9 130223595 130223595 single base substitution G A downstream_gene_variant ORCA-IN 9 130223595 130223595 single base substitution G A intron_variant ORCA-IN 9 130241231 130241231 single base substitution G T exon_variant ORCA-IN 9 130241231 130241231 single base substitution G T stop_gained E257* 769G>T ORCA-IN 9 130241231 130241231 single base substitution G T upstream_gene_variant ORCA-IN 9 130269584 130269584 single base substitution C A downstream_gene_variant OV-AU 9 130211183 130211183 single base substitution C T upstream_gene_variant OV-AU 9 130223226 130223226 single base substitution C G downstream_gene_variant OV-AU 9 130223226 130223226 single base substitution C G intron_variant OV-AU 9 130225669 130225669 single base substitution G T intron_variant OV-AU 9 130229541 130229541 single base substitution C A intron_variant OV-AU 9 130234842 130234842 single base substitution C G intron_variant OV-AU 9 130234842 130234842 single base substitution C G upstream_gene_variant OV-AU 9 130235076 130235076 single base substitution G C intron_variant OV-AU 9 130235076 130235076 single base substitution G C upstream_gene_variant OV-AU 9 130258134 130258134 single base substitution G A intron_variant OV-AU 9 130261816 130261816 single base substitution A T intron_variant OV-AU 9 130262619 130262619 single base substitution G A intron_variant OV-AU 9 130266036 130266036 single base substitution G A downstream_gene_variant PACA-AU 9 130208809 130208809 single base substitution T C upstream_gene_variant PACA-AU 9 130215924 130215924 single base substitution T C exon_variant PACA-AU 9 130215924 130215924 single base substitution T C intron_variant PACA-AU 9 130217411 130217411 single base substitution G T downstream_gene_variant PACA-AU 9 130217411 130217411 single base substitution G T intron_variant PACA-AU 9 130220954 130220954 single base substitution C G downstream_gene_variant PACA-AU 9 130220954 130220954 single base substitution C G intron_variant PACA-AU 9 130226910 130226910 single base substitution G A intron_variant PACA-AU 9 130231113 130231113 single base substitution A C intron_variant PACA-AU 9 130245293 130245293 single base substitution G A exon_variant PACA-AU 9 130245293 130245293 single base substitution G A missense_variant V385I 1153G>A PACA-AU 9 130247697 130247697 single base substitution G A intron_variant PACA-AU 9 130250551 130250551 deletion of <=200bp T - downstream_gene_variant PACA-AU 9 130250551 130250551 deletion of <=200bp T - intron_variant PACA-AU 9 130253733 130253733 single base substitution A G downstream_gene_variant PACA-AU 9 130253733 130253733 single base substitution A G intron_variant PACA-AU 9 130253733 130253733 single base substitution A G upstream_gene_variant PACA-AU 9 130257291 130257291 single base substitution C T intron_variant PACA-AU 9 130257291 130257291 single base substitution C T upstream_gene_variant PACA-AU 9 130264816 130264816 single base substitution T A downstream_gene_variant PACA-AU 9 130264816 130264816 single base substitution T A intron_variant PACA-AU 9 130265011 130265011 single base substitution A C downstream_gene_variant PACA-AU 9 130265011 130265011 single base substitution A C intron_variant PACA-CA 9 130209475 130209475 single base substitution C T upstream_gene_variant PACA-CA 9 130214635 130214635 single base substitution T C intron_variant PACA-CA 9 130215058 130215058 single base substitution T G intron_variant PACA-CA 9 130215845 130215845 deletion of <=200bp G - exon_variant PACA-CA 9 130215845 130215845 deletion of <=200bp G - intron_variant PACA-CA 9 130218055 130218055 single base substitution G C downstream_gene_variant PACA-CA 9 130218055 130218055 single base substitution G C intron_variant PACA-CA 9 130220034 130220034 single base substitution C T downstream_gene_variant PACA-CA 9 130220034 130220034 single base substitution C T intron_variant PACA-CA 9 130221217 130221217 single base substitution G A downstream_gene_variant PACA-CA 9 130221217 130221217 single base substitution G A intron_variant PACA-CA 9 130221388 130221388 single base substitution T C downstream_gene_variant PACA-CA 9 130221388 130221388 single base substitution T C intron_variant PACA-CA 9 130221897 130221897 single base substitution G A downstream_gene_variant PACA-CA 9 130221897 130221897 single base substitution G A intron_variant PACA-CA 9 130223828 130223828 single base substitution G A downstream_gene_variant PACA-CA 9 130223828 130223828 single base substitution G A intron_variant PACA-CA 9 130226873 130226873 single base substitution A G intron_variant PACA-CA 9 130231391 130231391 single base substitution T C intron_variant PACA-CA 9 130231391 130231391 single base substitution T C upstream_gene_variant PACA-CA 9 130234747 130234747 single base substitution C A intron_variant PACA-CA 9 130234747 130234747 single base substitution C A upstream_gene_variant PACA-CA 9 130237645 130237645 single base substitution C G intron_variant PACA-CA 9 130237645 130237645 single base substitution C G upstream_gene_variant PACA-CA 9 130238169 130238169 single base substitution G A intron_variant PACA-CA 9 130238169 130238169 single base substitution G A upstream_gene_variant PACA-CA 9 130240874 130240874 single base substitution C T intron_variant PACA-CA 9 130240874 130240874 single base substitution C T upstream_gene_variant PACA-CA 9 130241716 130241716 single base substitution C T exon_variant PACA-CA 9 130241716 130241716 single base substitution C T missense_variant R279W 835C>T PACA-CA 9 130241716 130241716 single base substitution C T upstream_gene_variant PACA-CA 9 130243722 130243722 single base substitution T G intron_variant PACA-CA 9 130247611 130247611 single base substitution T C intron_variant PACA-CA 9 130252640 130252640 single base substitution G A downstream_gene_variant PACA-CA 9 130252640 130252640 single base substitution G A intron_variant PACA-CA 9 130254253 130254253 single base substitution C T downstream_gene_variant PACA-CA 9 130254253 130254253 single base substitution C T intron_variant PACA-CA 9 130254253 130254253 single base substitution C T upstream_gene_variant PACA-CA 9 130255901 130255901 single base substitution G A intron_variant PACA-CA 9 130255901 130255901 single base substitution G A upstream_gene_variant PACA-CA 9 130258830 130258830 single base substitution C T intron_variant PACA-CA 9 130260047 130260047 single base substitution C T intron_variant PACA-CA 9 130261481 130261481 single base substitution T C intron_variant PACA-CA 9 130263139 130263139 single base substitution C T intron_variant PACA-CA 9 130265357 130265357 single base substitution G A 3_prime_UTR_variant PACA-CA 9 130265357 130265357 single base substitution G A downstream_gene_variant PACA-CA 9 130265357 130265357 single base substitution G A exon_variant PACA-CA 9 130265357 130265357 single base substitution G A intron_variant PACA-CA 9 130265712 130265712 single base substitution A G 3_prime_UTR_variant PACA-CA 9 130265712 130265712 single base substitution A G downstream_gene_variant PACA-CA 9 130265712 130265712 single base substitution A G exon_variant PAEN-AU 9 130213653 130213653 single base substitution A C upstream_gene_variant PAEN-AU 9 130222932 130222932 single base substitution T G downstream_gene_variant PAEN-AU 9 130222932 130222932 single base substitution T G intron_variant PAEN-AU 9 130228139 130228139 single base substitution C T intron_variant PAEN-IT 9 130227930 130227930 single base substitution C T intron_variant PAEN-IT 9 130234423 130234423 single base substitution T G intron_variant PAEN-IT 9 130234423 130234423 single base substitution T G upstream_gene_variant PAEN-IT 9 130248437 130248437 single base substitution C T intron_variant PBCA-DE 9 130229512 130229512 insertion of <=200bp - A intron_variant PBCA-DE 9 130246127 130246127 deletion of <=200bp A - intron_variant PBCA-DE 9 130247088 130247088 single base substitution T C intron_variant PBCA-DE 9 130247164 130247164 insertion of <=200bp - T intron_variant PBCA-DE 9 130249390 130249390 single base substitution G A intron_variant PBCA-DE 9 130251483 130251483 single base substitution C T downstream_gene_variant PBCA-DE 9 130251483 130251483 single base substitution C T intron_variant PBCA-DE 9 130261025 130261025 single base substitution C T intron_variant PBCA-DE 9 130262067 130262067 single base substitution C T intron_variant PRAD-CA 9 130223158 130223158 single base substitution G A downstream_gene_variant PRAD-CA 9 130223158 130223158 single base substitution G A intron_variant PRAD-CA 9 130224824 130224824 single base substitution A G intron_variant PRAD-CA 9 130227691 130227691 single base substitution A C intron_variant PRAD-CA 9 130228622 130228622 single base substitution G A intron_variant PRAD-CA 9 130232710 130232710 single base substitution A C intron_variant PRAD-CA 9 130232710 130232710 single base substitution A C upstream_gene_variant PRAD-CA 9 130245284 130245284 single base substitution C T exon_variant PRAD-CA 9 130245284 130245284 single base substitution C T stop_gained R382* 1144C>T PRAD-UK 9 130212198 130212198 single base substitution T C upstream_gene_variant PRAD-UK 9 130212482 130212482 single base substitution G A upstream_gene_variant PRAD-UK 9 130217068 130217068 single base substitution G A downstream_gene_variant PRAD-UK 9 130217068 130217068 single base substitution G A intron_variant PRAD-UK 9 130226886 130226886 single base substitution T G intron_variant PRAD-UK 9 130230734 130230734 single base substitution C A intron_variant PRAD-UK 9 130243218 130243218 single base substitution A G intron_variant PRAD-UK 9 130245092 130245092 single base substitution G A intron_variant PRAD-UK 9 130248626 130248626 single base substitution G T intron_variant PRAD-UK 9 130258137 130258137 single base substitution T A intron_variant RECA-EU 9 130222741 130222741 single base substitution C G downstream_gene_variant RECA-EU 9 130222741 130222741 single base substitution C G intron_variant RECA-EU 9 130252953 130252953 single base substitution C A downstream_gene_variant RECA-EU 9 130252953 130252953 single base substitution C A intron_variant RECA-EU 9 130252953 130252953 single base substitution C A upstream_gene_variant RECA-EU 9 130253821 130253821 single base substitution C T downstream_gene_variant RECA-EU 9 130253821 130253821 single base substitution C T intron_variant RECA-EU 9 130253821 130253821 single base substitution C T upstream_gene_variant RECA-EU 9 130264057 130264057 single base substitution T A downstream_gene_variant RECA-EU 9 130264057 130264057 single base substitution T A intron_variant RECA-EU 9 130266750 130266750 single base substitution C A downstream_gene_variant SKCA-BR 9 130210085 130210085 single base substitution C T upstream_gene_variant SKCA-BR 9 130211363 130211363 single base substitution C T upstream_gene_variant SKCA-BR 9 130213763 130213763 single base substitution C T upstream_gene_variant SKCA-BR 9 130216326 130216326 single base substitution A C downstream_gene_variant SKCA-BR 9 130216326 130216326 single base substitution A C intron_variant SKCA-BR 9 130216349 130216349 single base substitution C T downstream_gene_variant SKCA-BR 9 130216349 130216349 single base substitution C T intron_variant SKCA-BR 9 130216350 130216350 single base substitution C T downstream_gene_variant SKCA-BR 9 130216350 130216350 single base substitution C T intron_variant SKCA-BR 9 130217395 130217395 single base substitution C T downstream_gene_variant SKCA-BR 9 130217395 130217395 single base substitution C T intron_variant SKCA-BR 9 130217607 130217607 single base substitution A G downstream_gene_variant SKCA-BR 9 130217607 130217607 single base substitution A G intron_variant SKCA-BR 9 130221371 130221371 single base substitution A C downstream_gene_variant SKCA-BR 9 130221371 130221371 single base substitution A C intron_variant SKCA-BR 9 130221496 130221496 insertion of <=200bp - GT downstream_gene_variant SKCA-BR 9 130221496 130221496 insertion of <=200bp - GT intron_variant SKCA-BR 9 130228747 130228747 single base substitution G A intron_variant SKCA-BR 9 130228784 130228784 insertion of <=200bp - TA intron_variant SKCA-BR 9 130228785 130228785 single base substitution T A intron_variant SKCA-BR 9 130228797 130228810 deletion of <=200bp TTTTTTTTTTTTTC - intron_variant SKCA-BR 9 130230033 130230033 single base substitution C T synonymous_variant D181D 543C>T SKCA-BR 9 130231113 130231113 insertion of <=200bp - AC intron_variant SKCA-BR 9 130231417 130231417 single base substitution A G intron_variant SKCA-BR 9 130231417 130231417 single base substitution A G upstream_gene_variant SKCA-BR 9 130231899 130231899 insertion of <=200bp - GA intron_variant SKCA-BR 9 130231899 130231899 insertion of <=200bp - GA upstream_gene_variant SKCA-BR 9 130234668 130234668 single base substitution C T intron_variant SKCA-BR 9 130234668 130234668 single base substitution C T upstream_gene_variant SKCA-BR 9 130235360 130235360 single base substitution A G intron_variant SKCA-BR 9 130235360 130235360 single base substitution A G upstream_gene_variant SKCA-BR 9 130236365 130236365 single base substitution C T intron_variant SKCA-BR 9 130238054 130238054 single base substitution C T intron_variant SKCA-BR 9 130238054 130238054 single base substitution C T upstream_gene_variant SKCA-BR 9 130238894 130238894 single base substitution A G intron_variant SKCA-BR 9 130238894 130238894 single base substitution A G upstream_gene_variant SKCA-BR 9 130238896 130238896 single base substitution T G intron_variant SKCA-BR 9 130238896 130238896 single base substitution T G upstream_gene_variant SKCA-BR 9 130238943 130238943 single base substitution T G intron_variant SKCA-BR 9 130238943 130238943 single base substitution T G upstream_gene_variant SKCA-BR 9 130241051 130241051 single base substitution C T intron_variant SKCA-BR 9 130241051 130241051 single base substitution C T upstream_gene_variant SKCA-BR 9 130244655 130244655 single base substitution C A intron_variant SKCA-BR 9 130244703 130244703 single base substitution T G intron_variant SKCA-BR 9 130244716 130244716 single base substitution C T intron_variant SKCA-BR 9 130247089 130247089 single base substitution C T intron_variant SKCA-BR 9 130247813 130247813 single base substitution T G intron_variant SKCA-BR 9 130247954 130247954 single base substitution C T intron_variant SKCA-BR 9 130248301 130248301 single base substitution G A intron_variant SKCA-BR 9 130248832 130248832 single base substitution G A exon_variant SKCA-BR 9 130248832 130248832 single base substitution G A intron_variant SKCA-BR 9 130249462 130249463 deletion of <=200bp CA - intron_variant SKCA-BR 9 130252333 130252333 single base substitution A C downstream_gene_variant SKCA-BR 9 130252333 130252333 single base substitution A C intron_variant SKCA-BR 9 130259066 130259066 single base substitution C T intron_variant SKCA-BR 9 130259067 130259067 single base substitution C T intron_variant SKCA-BR 9 130261817 130261818 deletion of <=200bp AT - intron_variant SKCA-BR 9 130261820 130261820 single base substitution T A intron_variant SKCA-BR 9 130262429 130262430 deletion of <=200bp CA - intron_variant SKCA-BR 9 130262434 130262434 single base substitution G T intron_variant SKCA-BR 9 130262630 130262630 insertion of <=200bp - ACT intron_variant SKCA-BR 9 130262741 130262741 single base substitution C T intron_variant SKCA-BR 9 130263006 130263006 single base substitution G A intron_variant SKCA-BR 9 130263701 130263701 single base substitution C T downstream_gene_variant SKCA-BR 9 130263701 130263701 single base substitution C T intron_variant SKCA-BR 9 130266245 130266245 single base substitution A G downstream_gene_variant SKCM-US 9 130210242 130210242 single base substitution C T upstream_gene_variant SKCM-US 9 130219603 130219603 single base substitution C T downstream_gene_variant SKCM-US 9 130219603 130219603 single base substitution C T exon_variant SKCM-US 9 130219603 130219603 single base substitution C T synonymous_variant I61I 183C>T SKCM-US 9 130230109 130230109 single base substitution G A missense_variant E207K 619G>A SKCM-US 9 130236188 130236188 single base substitution C T missense_variant S243L 728C>T SKCM-US 9 130236188 130236188 single base substitution C T upstream_gene_variant SKCM-US 9 130248022 130248024 deletion of <=200bp GCA - exon_variant SKCM-US 9 130248022 130248024 deletion of <=200bp GCA - inframe_deletion MQ389M SKCM-US 9 130251788 130251788 single base substitution C T downstream_gene_variant SKCM-US 9 130251788 130251788 single base substitution C T exon_variant SKCM-US 9 130251788 130251788 single base substitution C T synonymous_variant I471I 1413C>T SKCM-US 9 130255173 130255173 single base substitution C T exon_variant SKCM-US 9 130255173 130255173 single base substitution C T synonymous_variant I505I 1515C>T SKCM-US 9 130255173 130255173 single base substitution C T synonymous_variant I532I 1596C>T SKCM-US 9 130255173 130255173 single base substitution C T upstream_gene_variant SKCM-US 9 130263419 130263419 single base substitution G A downstream_gene_variant SKCM-US 9 130263419 130263419 single base substitution G A exon_variant SKCM-US 9 130263419 130263419 single base substitution G A intron_variant SKCM-US 9 130263419 130263419 single base substitution G A synonymous_variant R654R 1962G>A SKCM-US 9 130263419 130263419 single base substitution G A synonymous_variant R681R 2043G>A SKCM-US 9 130269197 130269197 single base substitution A T downstream_gene_variant SKCM-US 9 130269290 130269290 single base substitution G A downstream_gene_variant SKCM-US 9 130269305 130269305 single base substitution G C downstream_gene_variant SKCM-US 9 130270409 130270409 single base substitution G A downstream_gene_variant SKCM-US 9 130270437 130270437 single base substitution G A downstream_gene_variant SKCM-US 9 130270444 130270444 single base substitution C T downstream_gene_variant STAD-US 9 130210270 130210270 single base substitution T C upstream_gene_variant STAD-US 9 130210644 130210644 single base substitution C T upstream_gene_variant STAD-US 9 130211589 130211589 deletion of <=200bp G - upstream_gene_variant STAD-US 9 130211929 130211929 single base substitution C T upstream_gene_variant STAD-US 9 130219605 130219605 single base substitution T A downstream_gene_variant STAD-US 9 130219605 130219605 single base substitution T A exon_variant STAD-US 9 130219605 130219605 single base substitution T A missense_variant V62D 185T>A STAD-US 9 130223460 130223460 single base substitution C T downstream_gene_variant STAD-US 9 130223460 130223460 single base substitution C T synonymous_variant N110N 330C>T STAD-US 9 130236099 130236099 deletion of <=200bp C - frameshift_variant Y213 STAD-US 9 130236099 130236099 deletion of <=200bp C - upstream_gene_variant STAD-US 9 130249962 130249962 single base substitution G A downstream_gene_variant STAD-US 9 130249962 130249962 single base substitution G A exon_variant STAD-US 9 130249962 130249962 single base substitution G A missense_variant E423K 1267G>A STAD-US 9 130251732 130251732 single base substitution C T downstream_gene_variant STAD-US 9 130251732 130251732 single base substitution C T exon_variant STAD-US 9 130251732 130251732 single base substitution C T stop_gained Q453* 1357C>T STAD-US 9 130265165 130265165 single base substitution A G downstream_gene_variant STAD-US 9 130265165 130265165 single base substitution A G exon_variant STAD-US 9 130265165 130265165 single base substitution A G intron_variant STAD-US 9 130265165 130265165 single base substitution A G missense_variant Y693C 2078A>G STAD-US 9 130265165 130265165 single base substitution A G missense_variant Y720C 2159A>G STAD-US 9 130269149 130269149 single base substitution C T downstream_gene_variant THCA-SA 9 130263318 130263318 insertion of <=200bp - G exon_variant THCA-SA 9 130263318 130263318 insertion of <=200bp - G frameshift_variant T621D? THCA-SA 9 130263318 130263318 insertion of <=200bp - G frameshift_variant T648D? THCA-SA 9 130263318 130263318 insertion of <=200bp - G intron_variant THCA-SA 9 130268557 130268557 single base substitution C A downstream_gene_variant THCA-US 9 130213590 130213590 single base substitution G A upstream_gene_variant THCA-US 9 130224635 130224635 single base substitution C T downstream_gene_variant THCA-US 9 130224635 130224635 single base substitution C T missense_variant H171Y 511C>T THCA-US 9 130253549 130253549 single base substitution A G downstream_gene_variant THCA-US 9 130253549 130253549 single base substitution A G exon_variant THCA-US 9 130253549 130253549 single base substitution A G intron_variant THCA-US 9 130253549 130253549 single base substitution A G missense_variant K493R 1478A>G THCA-US 9 130253549 130253549 single base substitution A G upstream_gene_variant UCEC-US 9 130210845 130210845 single base substitution G T upstream_gene_variant UCEC-US 9 130211898 130211898 single base substitution T C upstream_gene_variant UCEC-US 9 130211949 130211949 single base substitution C T upstream_gene_variant UCEC-US 9 130217327 130217327 single base substitution C A downstream_gene_variant UCEC-US 9 130217327 130217327 single base substitution C A exon_variant UCEC-US 9 130217327 130217327 single base substitution C A synonymous_variant L41L 123C>A UCEC-US 9 130223491 130223491 single base substitution C T downstream_gene_variant UCEC-US 9 130223491 130223491 single base substitution C T missense_variant R121C 361C>T UCEC-US 9 130224572 130224572 single base substitution C T downstream_gene_variant UCEC-US 9 130224572 130224572 single base substitution C T stop_gained R150* 448C>T UCEC-US 9 130236144 130236144 single base substitution C T synonymous_variant I228I 684C>T UCEC-US 9 130236144 130236144 single base substitution C T upstream_gene_variant UCEC-US 9 130241221 130241221 single base substitution C A exon_variant UCEC-US 9 130241221 130241221 single base substitution C A missense_variant F253L 759C>A UCEC-US 9 130241221 130241221 single base substitution C A upstream_gene_variant UCEC-US 9 130245234 130245234 single base substitution G T exon_variant UCEC-US 9 130245234 130245234 single base substitution G T missense_variant R365I 1094G>T UCEC-US 9 130255091 130255091 single base substitution C T exon_variant UCEC-US 9 130255091 130255091 single base substitution C T missense_variant S478L 1433C>T UCEC-US 9 130255091 130255091 single base substitution C T missense_variant S505L 1514C>T UCEC-US 9 130255091 130255091 single base substitution C T upstream_gene_variant UCEC-US 9 130258310 130258310 single base substitution T A exon_variant UCEC-US 9 130258310 130258310 single base substitution T A missense_variant I562N 1685T>A UCEC-US 9 130258310 130258310 single base substitution T A missense_variant I589N 1766T>A UCEC-US 9 130258313 130258313 single base substitution T C exon_variant UCEC-US 9 130258313 130258313 single base substitution T C missense_variant F563S 1688T>C UCEC-US 9 130258313 130258313 single base substitution T C missense_variant F590S 1769T>C UCEC-US 9 130263303 130263303 single base substitution A G exon_variant UCEC-US 9 130263303 130263303 single base substitution A G intron_variant UCEC-US 9 130263303 130263303 single base substitution A G missense_variant M616V 1846A>G UCEC-US 9 130263303 130263303 single base substitution A G missense_variant M643V 1927A>G UCEC-US 9 130270473 130270473 single base substitution C T downstream_gene_variant UCEC-US 9 130270705 130270705 single base substitution A G downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 115T COSM1237825 c.728C>T p.S243L Substitution - Missense 9:127473909-127473909 + 220 COSM4425285 c.476G>C p.G159A Substitution - Missense 9:127462321-127462321 + CSCC-38-T COSM4505420 c.692C>G p.S231C Substitution - Missense 9:127473873-127473873 + SNU-175 COSM3325538 c.1836C>T p.G612G Substitution - coding silent 9:127497258-127497258 + TCGA-AX-A0J0-01 COSM1105323 c.448C>T p.R150* Substitution - Nonsense 9:127462293-127462293 + pfg081T COSM4761322 c.1523G>A p.R508H Substitution - Missense 9:127492821-127492821 + RK059_C01 COSM3745832 c.781-5T>C p.? Unknown 9:127479378-127479378 + TCGA-A8-A076-01 COSM455361 c.677A>G p.D226G Substitution - Missense 9:127473858-127473858 + CHC892T COSM4797980 c.1043G>A p.R348K Substitution - Missense 9:127479978-127479978 + CLL093 COSM1292793 c.87G>A p.G29G Substitution - coding silent 9:127455012-127455012 + BD197T COSM3664110 c.1745C>T p.S582L Substitution - Missense 9:127496010-127496010 + TCGA-B0-4849-01 COSM3367555 c.753C>T p.N251N Substitution - coding silent 9:127478936-127478936 + CSCC-29-T COSM4546915 c.40G>T p.A14S Substitution - Missense 9:127454567-127454567 + T3094 COSM4699346 c.1160C>T p.S387F Substitution - Missense 9:127485736-127485736 + T3446 COSM4699343 c.129_129+1insTTTAC p.I44fs*19 Unknown 9:127455054-127455055 + TCGA-A5-A0GP-01 COSM1105321 c.123C>A p.L41L Substitution - coding silent 9:127455048-127455048 + TCGA-D1-A17Q-01 COSM1105325 c.759C>A p.F253L Substitution - Missense 9:127478942-127478942 + 234 COSM3731416 c.639delC p.P215fs*33 Deletion - Frameshift 9:127473820-127473820 + Pat_40_B COSM5875564 c.815G>A p.R272Q Substitution - Missense 9:127479417-127479417 + B80-8 COSM1755937 c.230T>C p.L77P Substitution - Missense 9:127457371-127457371 + 5T COSM3716127 c.295G>T p.D99Y Substitution - Missense 9:127459045-127459045 + CSCC-7-T COSM4448829 c.1347+1G>A p.? Unknown 9:127487764-127487764 + RKO COSM3325535 c.1596C>T p.I532I Substitution - coding silent 9:127492894-127492894 + C10 COSM4616662 c.925G>A p.G309S Substitution - Missense 9:127479860-127479860 + MDS-08 COSM210996 c.95A>G p.D32G Substitution - Missense 9:127455020-127455020 + J30_T COSM3952347 c.268G>T p.D90Y Substitution - Missense 9:127459018-127459018 + 1517_PT COSM5757312 c.434C>T p.T145I Substitution - Missense 9:127462279-127462279 + SC_9012 COSM5571719 c.184G>A p.V62I Substitution - Missense 9:127457325-127457325 + OSCC-GB_00050111 COSM3716127 c.295G>T p.D99Y Substitution - Missense 9:127459045-127459045 + TCGA-AR-A1AR-01 COSM455363 c.2020G>C p.E674Q Substitution - Missense 9:127501117-127501117 + TCGA-D1-A167-01 COSM1105322 c.361C>T p.R121C Substitution - Missense 9:127461212-127461212 + CN-AML-CR-33-Dx COSM5425059 c.1912+5A>C p.? Unknown 9:127497339-127497339 + CHC892T COSM4958480 c.863G>A p.S288N Substitution - Missense 9:127479465-127479465 + 8015764 COSM3395573 c.1153G>A p.V385I Substitution - Missense 9:127483014-127483014 + PCSI_0083_Pa_P_526 COSM3788175 c.835C>T p.R279W Substitution - Missense 9:127479437-127479437 + TCGA-GV-A3QK-01 COSM3779629 c.133C>G p.P45A Substitution - Missense 9:127455579-127455579 + CHC892T COSM4958480 c.863G>A p.S288N Substitution - Missense 9:127479465-127479465 + TCGA-DA-A3F8-06 COSM3654426 c.1413C>T p.I471I Substitution - coding silent 9:127489509-127489509 + Pat_15_B COSM5875563 c.781G>T p.E261* Substitution - Nonsense 9:127479383-127479383 + Gp5D COSM3325527 c.1264G>A p.A422T Substitution - Missense 9:127487680-127487680 + 587226 COSM1214031 c.2077G>A p.V693I Substitution - Missense 9:127502804-127502804 + C086 COSM5534079 c.1099G>A p.E367K Substitution - Missense 9:127482960-127482960 + TCGA-D8-A1JN-01 COSM1489677 c.1267G>A p.E423K Substitution - Missense 9:127487683-127487683 + T55 COSM4699345 c.685G>A p.E229K Substitution - Missense 9:127473866-127473866 + CSCC-11-T COSM4538298 c.252G>A p.K84K Substitution - coding silent 9:127457393-127457393 + TCGA-EJ-7125-01 COSM302593 c.435C>A p.T145T Substitution - coding silent 9:127462280-127462280 + TCGA-B5-A11V-01 COSM1105327 c.1371C>T p.F457F Substitution - coding silent 9:127489467-127489467 + DN110BC COSM5785637 c.961C>T p.R321W Substitution - Missense 9:127479896-127479896 + TCGA-A7-A56D-01 COSM3847684 c.372G>A p.G124G Substitution - coding silent 9:127461223-127461223 + TCGA-A8-A07R-01 COSM455362 c.1130_1131delCT p.T377fs*7 Deletion - Frameshift 9:127482991-127482992 + TCGA-GV-A3JZ-01 COSM1314468 c.2171G>A p.*724* Substitution - coding silent 9:127502898-127502898 + LUAD-RT-S01832 COSM384693 c.1591G>A p.E531K Substitution - Missense 9:127492889-127492889 + 169 COSM210996 c.95A>G p.D32G Substitution - Missense 9:127455020-127455020 + 587342 COSM1214033 c.817C>T p.R273C Substitution - Missense 9:127479419-127479419 + TCGA-BR-6452-01 COSM3904216 c.185T>A p.V62D Substitution - Missense 9:127457326-127457326 + TCGA-ER-A19E-06 COSM3654427 c.2043G>A p.R681R Substitution - coding silent 9:127501140-127501140 + sysucc-311T COSM5467602 c.2110C>T p.R704C Substitution - Missense 9:127502837-127502837 + B80-8-Tumor COSM1755937 c.230T>C p.L77P Substitution - Missense 9:127457371-127457371 + ESO-1670 COSM1256960 c.891G>A p.Q297Q Substitution - coding silent 9:127479493-127479493 + CCC6 COSM3664110 c.1745C>T p.S582L Substitution - Missense 9:127496010-127496010 + sysucc-882T COSM5447831 c.2028C>T p.V676V Substitution - coding silent 9:127501125-127501125 + TCGA-GV-A40G-01 COSM3779630 c.2121G>A p.P707P Substitution - coding silent 9:127502848-127502848 + CSCC-4-T COSM4552108 c.549G>A p.S183S Substitution - coding silent 9:127467760-127467760 + TCGA-37-4135-01 COSM752683 c.1745C>A p.S582* Substitution - Nonsense 9:127496010-127496010 + ESCC_143 COSM5644499 c.968G>T p.R323L Substitution - Missense 9:127479903-127479903 + TCGA-EM-A3FR-01 COSM3375085 c.1478A>G p.K493R Substitution - Missense 9:127491270-127491270 + TCGA-BR-6452-01 COSM3904219 c.2159A>G p.Y720C Substitution - Missense 9:127502886-127502886 + PD23563a COSM5774249 c.1811G>C p.S604T Substitution - Missense 9:127496076-127496076 + PD7204a COSM5785637 c.961C>T p.R321W Substitution - Missense 9:127479896-127479896 + MO_1012 COSM5447831 c.2028C>T p.V676V Substitution - coding silent 9:127501125-127501125 + TCGA-AX-A05Z-01 COSM1105331 c.1927A>G p.M643V Substitution - Missense 9:127501024-127501024 + CSCC-42-T COSM4456378 c.1007C>T p.S336F Substitution - Missense 9:127479942-127479942 + TCGA-EA-A411-01 COSM4838100 c.1662G>T p.R554R Substitution - coding silent 9:127495382-127495382 + TCGA-EE-A17X-06 COSM1237825 c.728C>T p.S243L Substitution - Missense 9:127473909-127473909 + TCGA-D8-A1JA-01 COSM3847683 c.348G>C p.L116L Substitution - coding silent 9:127461199-127461199 + 3N55-VS-3T55 COSM4983754 c.1442A>T p.E481V Substitution - Missense 9:127491234-127491234 + CHC798T COSM4958169 c.866G>T p.S289I Substitution - Missense 9:127479468-127479468 + TCGA-B5-A0JZ-01 COSM1105329 c.1766T>A p.I589N Substitution - Missense 9:127496031-127496031 + TCGA-43-5668-01 COSM752684 c.129G>T p.E43D Substitution - Missense 9:127455054-127455054 + TCGA-13-0727-01 COSM118089 c.591T>G p.T197T Substitution - coding silent 9:127467802-127467802 + Pat_41_B COSM5875562 c.712C>T p.P238S Substitution - Missense 9:127473893-127473893 + 1517_CLM COSM5757312 c.434C>T p.T145I Substitution - Missense 9:127462279-127462279 + TCGA-25-1628-01 COSM118089 c.591T>G p.T197T Substitution - coding silent 9:127467802-127467802 + CSCC-11-T COSM4459121 c.1112C>T p.S371F Substitution - Missense 9:127482973-127482973 + T3174 COSM4699344 c.610C>A p.L204I Substitution - Missense 9:127467821-127467821 + YULAN COSM1701753 c.43C>T p.R15W Substitution - Missense 9:127454570-127454570 + 578 COSM3722435 c.588C>T p.G196G Substitution - coding silent 9:127467799-127467799 + TCGA-RG-A7D4-01 COSM4918720 c.1012C>T p.R338W Substitution - Missense 9:127479947-127479947 + CHC892T COSM4797980 c.1043G>A p.R348K Substitution - Missense 9:127479978-127479978 + B80-5-Tumor COSM4007053 c.1775A>C p.H592P Substitution - Missense 9:127496040-127496040 + TCGA-GM-A2DB-01 COSM3847685 c.1319A>T p.N440I Substitution - Missense 9:127487735-127487735 + TCGA-EE-A3J8-06 COSM3654425 c.619G>A p.E207K Substitution - Missense 9:127467830-127467830 + 19 COSM5747071 c.2147G>A p.R716H Substitution - Missense 9:127502874-127502874 + TCGA-EK-A2PG-01 COSM1489677 c.1267G>A p.E423K Substitution - Missense 9:127487683-127487683 + TCGA-BR-8081-01 COSM3904217 c.330C>T p.N110N Substitution - coding silent 9:127461181-127461181 + HCC093T COSM5810941 c.406G>T p.D136Y Substitution - Missense 9:127461257-127461257 + 587222 COSM1214032 c.1298C>T p.S433L Substitution - Missense 9:127487714-127487714 + 587376 COSM1214034 c.262C>A p.L88I Substitution - Missense 9:127459012-127459012 + CHC798T COSM4958169 c.866G>T p.S289I Substitution - Missense 9:127479468-127479468 + TCGA-B5-A0JR-01 COSM1105332 c.2012A>G p.Q671R Substitution - Missense 9:127501109-127501109 + tumor_4133263 COSM5947904 c.742G>A p.E248K Substitution - Missense 9:127473923-127473923 + 2334196 COSM321503 c.252G>T p.K84N Substitution - Missense 9:127457393-127457393 + YUDEDE COSM1701754 c.134C>T p.P45L Substitution - Missense 9:127455580-127455580 + ESCC_133 COSM5642634 c.2171G>C p.*724S Nonstop extension 9:127502898-127502898 + TCGA-DD-A4ND-01 COSM4935044 c.1010G>T p.S337I Substitution - Missense 9:127479945-127479945 + HCC2998 COSM1105327 c.1371C>T p.F457F Substitution - coding silent 9:127489467-127489467 + TCGA-UC-A7PF-01 COSM4830234 c.1398G>A p.L466L Substitution - coding silent 9:127489494-127489494 + C106 COSM4616378 c.1405C>T p.R469W Substitution - Missense 9:127489501-127489501 + TCGA-B5-A0JY-01 COSM1105326 c.1094G>T p.R365I Substitution - Missense 9:127482955-127482955 + TCGA-BR-8286-01 COSM1489677 c.1267G>A p.E423K Substitution - Missense 9:127487683-127487683 + YUDATE COSM1701755 c.1924C>A p.P642T Substitution - Missense 9:127501021-127501021 + TCGA-EE-A2MR-06 COSM3325510 c.183C>T p.I61I Substitution - coding silent 9:127457324-127457324 + UM-SCC-17B COSM4598364 c.520A>T p.T174S Substitution - Missense 9:127462365-127462365 + OSCC-GB_01060111 COSM4883140 c.769G>T p.E257* Substitution - Nonsense 9:127478952-127478952 + TCGA-D1-A17Q-01 COSM1105328 c.1514C>T p.S505L Substitution - Missense 9:127492812-127492812 + TCGA-DS-A0VM-01 COSM462448 c.1863G>C p.E621D Substitution - Missense 9:127497285-127497285 + PD4192a COSM5774431 c.992C>T p.T331M Substitution - Missense 9:127479927-127479927 + PTC_285 COSM5958880 c.1942_1943insG p.T648fs*10 Insertion - Frameshift 9:127501039-127501040 + CCC6T COSM3664110 c.1745C>T p.S582L Substitution - Missense 9:127496010-127496010 + TCGA-EE-A20C-06 COSM3325535 c.1596C>T p.I532I Substitution - coding silent 9:127492894-127492894 + Detroit_562 COSM3325525 c.1046A>G p.Q349R Substitution - Missense 9:127481185-127481185 + TCGA-BR-4361-01 COSM3904218 c.1357C>T p.Q453* Substitution - Nonsense 9:127489453-127489453 + PTC-14C COSM4163342 c.149C>A p.A50E Substitution - Missense 9:127455595-127455595 + SCMC_RM2_ COSM4989142 c.370G>T p.G124W Substitution - Missense 9:127461221-127461221 + MD-051 COSM302593 c.435C>A p.T145T Substitution - coding silent 9:127462280-127462280 + TCGA-BS-A0UF-01 COSM1105330 c.1769T>C p.F590S Substitution - Missense 9:127496034-127496034 + TCGA-AX-A05Z-01 COSM1105324 c.684C>T p.I228I Substitution - coding silent 9:127473865-127473865 + TCGA-EK-A2PM-01 COSM4831591 c.1999G>A p.E667K Substitution - Missense 9:127501096-127501096 + TCGA-ET-A3DS-01 COSM3375084 c.511C>T p.H171Y Substitution - Missense 9:127462356-127462356 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.495143;Hs.495158;Hs.495188 9q33.3 610933

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.D226G c.677A>G 9 130236137 BRCA A G Missense p.H468R c.1403A>G 9 130251778 LUAD A G Missense p.K493R c.1478A>G 9 130253549 THCA C A Nonsense p.S582* c.1745C>A 9 130258289 LUSC C A Synonymous p.L41L c.123C>A 9 130217327 UCEC C - Frameshift p.P215Lfs*33 c.644delC 9 130236099 STAD CT - Frameshift p.T377Rfs*7 c.1130_1131delCT 9 130245270 BRCA C T Missense p.H171Y c.511C>T 9 130224635 THCA C T Missense p.S243L c.728C>T 9 130236188 CM C T Synonymous p.I471I c.1413C>T 9 130251788 CM C T Synonymous p.I532I c.1596C>T 9 130255173 CM C T Synonymous p.N251N c.753C>T 9 130241215 RCCC G A 3-UTRSNV . c.2169+2G>A 9 130265177 BLCA G A Missense p.E207K c.619G>A 9 130230109 CM G A Missense p.E423K c.1267G>A 9 130249962 BRCA G A Missense p.E541K c.1621G>A 9 130257620 HNSC G A Missense p.R624Q c.1871G>A 9 130259572 HNSC G A Missense p.V611M c.1831G>A 9 130259532 CM G A Synonymous p.G29G c.87G>A 9 130217291 CLL G A Synonymous p.L639L c.1917G>A 9 130263293 HNSC G A Synonymous p.Q297Q c.891G>A 9 130241772 ESCA G A Synonymous p.R244R c.732G>A 9 130236192 CM G A Synonymous p.R681R c.2043G>A 9 130263419 CM GCA - InFrameDeletion p.Q391delQ c.1171_1173delCAG 9 130248022 CM G C Missense p.E489Q c.1465G>C 9 130253536 HNSC G C Missense p.E674Q c.2020G>C 9 130263396 BRCA G C Missense p.E674Q c.2020G>C 9 130263396 HNSC G T Missense p.E43D c.129G>T 9 130217333 LUSC G T Missense p.K84N c.252G>T 9 130219672 SCLC T A Missense p.I589N c.1766T>A 9 130258310 UCEC T C Synonymous p.S658S c.1974T>C 9 130263350 LUAD T G Synonymous p.T197T c.591T>G 9 130230081 OV