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 5 158696038 158696038 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr5:158696038C>T c.115C>T c.(115-117)Ctt>Ttt p.L39F BLCA 5 158696067 158696067 + Silent SNP C C G TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr5:158696067C>G c.144C>G c.(142-144)ctC>ctG p.L48L BLCA 5 158702181 158702183 + In_Frame_Del DEL ATT ATT - TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 g.chr5:158702181_158702183delATT c.611_613delATT c.(610-615)aattat>aat p.Y205del BLCA 5 158705319 158705319 + Missense_Mutation SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr5:158705319A>G c.758A>G c.(757-759)gAc>gGc p.D253G BLCA 5 158705341 158705341 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 g.chr5:158705341G>C c.780G>C c.(778-780)atG>atC p.M260I BLCA 5 158710244 158710244 + Missense_Mutation SNP C C G TCGA-DK-AA6R-01A-11D-A42E-08 TCGA-DK-AA6R-10A-01D-A42H-08 g.chr5:158710244C>G c.826C>G c.(826-828)Cta>Gta p.L276V BLCA 5 158710291 158710291 + Silent SNP C C T TCGA-DK-AA6W-01A-12D-A391-08 TCGA-DK-AA6W-10A-01D-A394-08 g.chr5:158710291C>T c.873C>T c.(871-873)ctC>ctT p.L291L BRCA 5 158697440 158697440 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 g.chr5:158697440G>A c.319G>A c.(319-321)Gaa>Aaa p.E107K BRCA 5 158710234 158710234 + Missense_Mutation SNP G G A TCGA-AC-A3W6-01A-12D-A228-09 TCGA-AC-A3W6-10A-01D-A22A-09 g.chr5:158710234G>A c.816G>A c.(814-816)atG>atA p.M272I BRCA 5 158711931 158711931 + Nonsense_Mutation SNP G G T TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr5:158711931G>T c.949G>T c.(949-951)Gga>Tga p.G317* CESC 5 158705280 158705280 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr5:158705280C>T c.719C>T c.(718-720)tCg>tTg p.S240L COAD 5 158696002 158696002 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:158696002G>A c.79G>A c.(79-81)Gat>Aat p.D27N COAD 5 158696923 158696923 + Silent SNP T T G TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr5:158696923T>G c.162T>G c.(160-162)ccT>ccG p.P54P COAD 5 158697613 158697613 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr5:158697613A>C c.410A>C c.(409-411)aAa>aCa p.K137T COAD 5 158705262 158705262 + Missense_Mutation SNP T T C TCGA-CA-6719-01A-11D-1835-10 TCGA-CA-6719-10A-01D-1835-10 g.chr5:158705262T>C c.701T>C c.(700-702)gTt>gCt p.V234A COAD 5 158705357 158705357 + Missense_Mutation SNP C C A TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr5:158705357C>A c.796C>A c.(796-798)Cta>Ata p.L266I COAD 5 158710265 158710265 + Nonsense_Mutation SNP G G T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr5:158710265G>T c.847G>T c.(847-849)Gaa>Taa p.E283* COAD 5 158710265 158710265 + Nonsense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:158710265G>T c.847G>T c.(847-849)Gaa>Taa p.E283* COAD 5 158711932 158711932 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:158711932G>A c.950G>A c.(949-951)gGa>gAa p.G317E COADREAD 5 158696002 158696002 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:158696002G>A c.79G>A c.(79-81)Gat>Aat p.D27N COADREAD 5 158696923 158696923 + Silent SNP T T G TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr5:158696923T>G c.162T>G c.(160-162)ccT>ccG p.P54P COADREAD 5 158696934 158696934 + Missense_Mutation SNP A A G TCGA-DY-A0XA-01A-11D-A152-10 TCGA-DY-A0XA-10A-01D-A152-10 g.chr5:158696934A>G c.173A>G c.(172-174)gAt>gGt p.D58G COADREAD 5 158697613 158697613 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr5:158697613A>C c.410A>C c.(409-411)aAa>aCa p.K137T COADREAD 5 158705262 158705262 + Missense_Mutation SNP T T C TCGA-CA-6719-01A-11D-1835-10 TCGA-CA-6719-10A-01D-1835-10 g.chr5:158705262T>C c.701T>C c.(700-702)gTt>gCt p.V234A COADREAD 5 158705357 158705357 + Missense_Mutation SNP C C A TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr5:158705357C>A c.796C>A c.(796-798)Cta>Ata p.L266I COADREAD 5 158710265 158710265 + Nonsense_Mutation SNP G G T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr5:158710265G>T c.847G>T c.(847-849)Gaa>Taa p.E283* COADREAD 5 158710265 158710265 + Nonsense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:158710265G>T c.847G>T c.(847-849)Gaa>Taa p.E283* COADREAD 5 158711932 158711932 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:158711932G>A c.950G>A c.(949-951)gGa>gAa p.G317E GBMLGG 5 158696048 158696048 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:158696048G>A c.125G>A c.(124-126)cGc>cAc p.R42H GBMLGG 5 158697549 158697549 + Missense_Mutation SNP C C A TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 g.chr5:158697549C>A c.346C>A c.(346-348)Ctg>Atg p.L116M HNSC 5 158710239 158710239 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 g.chr5:158710239C>T c.821C>T c.(820-822)gCg>gTg p.A274V KICH 5 158696939 158696939 + Missense_Mutation SNP A A G TCGA-KL-8342-01A-11D-2310-10 TCGA-KL-8342-11A-01D-2310-10 g.chr5:158696939A>G c.178A>G c.(178-180)Aag>Gag p.K60E KIPAN 5 158696067 158696067 + Silent SNP C C G TCGA-BP-5189-01A-02D-1429-08 TCGA-BP-5189-11A-01D-1429-08 g.chr5:158696067C>G c.144C>G c.(142-144)ctC>ctG p.L48L KIPAN 5 158696939 158696939 + Missense_Mutation SNP A A G TCGA-KL-8342-01A-11D-2310-10 TCGA-KL-8342-11A-01D-2310-10 g.chr5:158696939A>G c.178A>G c.(178-180)Aag>Gag p.K60E KIPAN 5 158697539 158697539 + Missense_Mutation SNP A A T TCGA-CZ-5468-01A-01D-1501-10 TCGA-CZ-5468-11A-01D-1501-10 g.chr5:158697539A>T c.336A>T c.(334-336)gaA>gaT p.E112D KIPAN 5 158710292 158710292 + Missense_Mutation SNP A A C TCGA-AK-3430-01A-01D-1251-10 TCGA-AK-3430-10A-01D-1251-10 g.chr5:158710292A>C c.874A>C c.(874-876)Aag>Cag p.K292Q KIRC 5 158696067 158696067 + Silent SNP C C G TCGA-BP-5189-01A-02D-1429-08 TCGA-BP-5189-11A-01D-1429-08 g.chr5:158696067C>G c.144C>G c.(142-144)ctC>ctG p.L48L KIRC 5 158697539 158697539 + Missense_Mutation SNP A A T TCGA-CZ-5468-01A-01D-1501-10 TCGA-CZ-5468-11A-01D-1501-10 g.chr5:158697539A>T c.336A>T c.(334-336)gaA>gaT p.E112D KIRC 5 158710292 158710292 + Missense_Mutation SNP A A C TCGA-AK-3430-01A-01D-1251-10 TCGA-AK-3430-10A-01D-1251-10 g.chr5:158710292A>C c.874A>C c.(874-876)Aag>Cag p.K292Q LGG 5 158696048 158696048 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:158696048G>A c.125G>A c.(124-126)cGc>cAc p.R42H LGG 5 158697549 158697549 + Missense_Mutation SNP C C A TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 g.chr5:158697549C>A c.346C>A c.(346-348)Ctg>Atg p.L116M LIHC 5 158697408 158697408 + Missense_Mutation SNP T T G TCGA-WX-AA44-01A-11D-A38X-10 TCGA-WX-AA44-10A-01D-A38X-10 g.chr5:158697408T>G c.287T>G c.(286-288)gTt>gGt p.V96G LIHC 5 158705274 158705274 + Missense_Mutation SNP A A G TCGA-FV-A2QR-01A-11D-A20W-10 TCGA-FV-A2QR-11A-11D-A20W-10 g.chr5:158705274A>G c.713A>G c.(712-714)aAg>aGg p.K238R OV 5 158705261 158705261 + Missense_Mutation SNP G G A TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 g.chr5:158705261G>A c.700G>A c.(700-702)Gtt>Att p.V234I PAAD 5 158696032 158696032 + Nonsense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:158696032G>T c.109G>T c.(109-111)Gga>Tga p.G37* PAAD 5 158711927 158711927 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:158711927G>T c.945G>T c.(943-945)aaG>aaT p.K315N PRAD 5 158696047 158696047 + Missense_Mutation SNP C C T TCGA-ZG-A9L9-01A-11D-A41K-08 TCGA-ZG-A9L9-10A-01D-A41N-08 g.chr5:158696047C>T c.124C>T c.(124-126)Cgc>Tgc p.R42C PRAD 5 158696066 158696066 + Missense_Mutation SNP T T G TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 g.chr5:158696066T>G c.143T>G c.(142-144)cTc>cGc p.L48R PRAD 5 158697638 158697638 + Frame_Shift_Del DEL T T - TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 g.chr5:158697638delT c.435delT c.(433-435)gatfs p.D145fs READ 5 158696934 158696934 + Missense_Mutation SNP A A G TCGA-DY-A0XA-01A-11D-A152-10 TCGA-DY-A0XA-10A-01D-A152-10 g.chr5:158696934A>G c.173A>G c.(172-174)gAt>gGt p.D58G SKCM 5 158697388 158697388 + Silent SNP C C T TCGA-DA-A1HW-06A-11D-A19A-08 TCGA-DA-A1HW-10A-01D-A19A-08 g.chr5:158697388C>T c.267C>T c.(265-267)ccC>ccT p.P89P SKCM 5 158697396 158697398 + In_Frame_Del DEL ATG ATG - TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr5:158697396_158697398delATG c.275_277delATG c.(274-279)aatgat>aat p.D94del SKCM 5 158699032 158699032 + Splice_Site SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr5:158699032C>T c.450C>T c.(448-450)gaC>gaT p.D150D SKCM 5 158710336 158710336 + Missense_Mutation SNP A A T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 g.chr5:158710336A>T c.918A>T c.(916-918)aaA>aaT p.K306N

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 5 158702181 158702183 deletion of <=200bp ATT - exon_variant BLCA-US 5 158702181 158702183 deletion of <=200bp ATT - inframe_deletion NY204N BOCA-FR 5 158690332 158690332 single base substitution T G 5_prime_UTR_variant BRCA-EU 5 158685138 158685138 single base substitution A T upstream_gene_variant BRCA-EU 5 158685436 158685436 single base substitution A G upstream_gene_variant BRCA-EU 5 158686755 158686755 single base substitution T C upstream_gene_variant BRCA-EU 5 158686859 158686859 single base substitution A G upstream_gene_variant BRCA-EU 5 158688825 158688825 deletion of <=200bp T - upstream_gene_variant BRCA-EU 5 158689914 158689914 single base substitution C T upstream_gene_variant BRCA-EU 5 158691464 158691464 single base substitution T G intron_variant BRCA-EU 5 158691540 158691540 single base substitution A G intron_variant BRCA-EU 5 158692167 158692167 single base substitution A T intron_variant BRCA-EU 5 158692355 158692355 single base substitution C A intron_variant BRCA-EU 5 158693021 158693021 single base substitution A G intron_variant BRCA-EU 5 158693337 158693337 single base substitution G A intron_variant BRCA-EU 5 158693393 158693393 single base substitution G A intron_variant BRCA-EU 5 158693478 158693478 single base substitution G C intron_variant BRCA-EU 5 158693558 158693558 single base substitution G A intron_variant BRCA-EU 5 158693987 158693987 single base substitution A G intron_variant BRCA-EU 5 158694626 158694626 single base substitution G A intron_variant BRCA-EU 5 158696413 158696413 single base substitution C T intron_variant BRCA-EU 5 158696413 158696413 single base substitution C T upstream_gene_variant BRCA-EU 5 158696511 158696511 deletion of <=200bp T - intron_variant BRCA-EU 5 158696511 158696511 deletion of <=200bp T - upstream_gene_variant BRCA-EU 5 158698465 158698465 deletion of <=200bp A - intron_variant BRCA-EU 5 158698465 158698465 deletion of <=200bp A - upstream_gene_variant BRCA-EU 5 158700220 158700220 single base substitution A C intron_variant BRCA-EU 5 158700220 158700220 single base substitution A C upstream_gene_variant BRCA-EU 5 158700536 158700536 single base substitution T G intron_variant BRCA-EU 5 158700536 158700536 single base substitution T G upstream_gene_variant BRCA-EU 5 158701276 158701276 single base substitution G C intron_variant BRCA-EU 5 158701276 158701276 single base substitution G C upstream_gene_variant BRCA-EU 5 158702146 158702146 single base substitution G C intron_variant BRCA-EU 5 158703974 158703974 single base substitution G C downstream_gene_variant BRCA-EU 5 158703974 158703974 single base substitution G C intron_variant BRCA-EU 5 158704229 158704229 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 158704229 158704229 deletion of <=200bp A - intron_variant BRCA-EU 5 158704359 158704359 single base substitution T C downstream_gene_variant BRCA-EU 5 158704359 158704359 single base substitution T C intron_variant BRCA-EU 5 158705209 158705209 single base substitution G A downstream_gene_variant BRCA-EU 5 158705209 158705209 single base substitution G A intron_variant BRCA-EU 5 158706366 158706366 single base substitution A C downstream_gene_variant BRCA-EU 5 158706366 158706366 single base substitution A C intron_variant BRCA-EU 5 158707646 158707646 single base substitution G A intron_variant BRCA-EU 5 158707968 158707968 single base substitution G A intron_variant BRCA-EU 5 158709300 158709300 single base substitution G A intron_variant BRCA-EU 5 158709419 158709419 single base substitution G C intron_variant BRCA-EU 5 158709811 158709811 single base substitution G A intron_variant BRCA-EU 5 158714865 158714865 single base substitution C A downstream_gene_variant BRCA-EU 5 158715356 158715356 single base substitution C G downstream_gene_variant BRCA-EU 5 158716053 158716053 single base substitution T C downstream_gene_variant BRCA-EU 5 158716073 158716073 single base substitution C G downstream_gene_variant BRCA-EU 5 158716392 158716392 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 158717189 158717189 single base substitution G A downstream_gene_variant BRCA-EU 5 158717416 158717416 single base substitution T G downstream_gene_variant BRCA-FR 5 158685436 158685436 single base substitution A G upstream_gene_variant BRCA-FR 5 158700536 158700536 single base substitution T G intron_variant BRCA-FR 5 158700536 158700536 single base substitution T G upstream_gene_variant BRCA-FR 5 158701276 158701276 single base substitution G C intron_variant BRCA-FR 5 158701276 158701276 single base substitution G C upstream_gene_variant BRCA-FR 5 158702146 158702146 single base substitution G C intron_variant BRCA-FR 5 158707968 158707968 single base substitution G A intron_variant BRCA-FR 5 158709419 158709419 single base substitution G C intron_variant BRCA-UK 5 158717189 158717189 single base substitution G A downstream_gene_variant BRCA-US 5 158697440 158697440 single base substitution G A missense_variant E107K 319G>A BRCA-US 5 158697440 158697440 single base substitution G A upstream_gene_variant BRCA-US 5 158710234 158710234 single base substitution G A exon_variant BRCA-US 5 158710234 158710234 single base substitution G A missense_variant M272I 816G>A BRCA-US 5 158711931 158711931 single base substitution G T exon_variant BRCA-US 5 158711931 158711931 single base substitution G T stop_gained G317* 949G>T BTCA-JP 5 158696887 158696887 single base substitution G T intron_variant BTCA-JP 5 158696887 158696887 single base substitution G T upstream_gene_variant BTCA-JP 5 158701533 158701533 insertion of <=200bp - T exon_variant BTCA-JP 5 158701533 158701533 insertion of <=200bp - T intron_variant BTCA-JP 5 158701533 158701533 insertion of <=200bp - T upstream_gene_variant CESC-US 5 158705280 158705280 single base substitution C T downstream_gene_variant CESC-US 5 158705280 158705280 single base substitution C T exon_variant CESC-US 5 158705280 158705280 single base substitution C T missense_variant S240L 719C>T CLLE-ES 5 158687250 158687250 single base substitution A C upstream_gene_variant CLLE-ES 5 158697365 158697365 single base substitution T A splice_region_variant CLLE-ES 5 158697365 158697365 single base substitution T A upstream_gene_variant COAD-US 5 158696002 158696002 single base substitution G A missense_variant D27N 79G>A COAD-US 5 158705357 158705357 single base substitution C A downstream_gene_variant COAD-US 5 158705357 158705357 single base substitution C A exon_variant COAD-US 5 158705357 158705357 single base substitution C A missense_variant L266I 796C>A COAD-US 5 158710265 158710265 single base substitution G T exon_variant COAD-US 5 158710265 158710265 single base substitution G T stop_gained E283* 847G>T COCA-CN 5 158686845 158686845 single base substitution A T upstream_gene_variant COCA-CN 5 158687956 158687956 single base substitution G C upstream_gene_variant COCA-CN 5 158697455 158697455 single base substitution T C splice_donor_variant COCA-CN 5 158697455 158697455 single base substitution T C upstream_gene_variant COCA-CN 5 158699945 158699945 single base substitution A C intron_variant COCA-CN 5 158699945 158699945 single base substitution A C upstream_gene_variant COCA-CN 5 158700828 158700828 single base substitution T C intron_variant COCA-CN 5 158700828 158700828 single base substitution T C upstream_gene_variant COCA-CN 5 158701364 158701364 single base substitution C T intron_variant COCA-CN 5 158701364 158701364 single base substitution C T upstream_gene_variant COCA-CN 5 158705889 158705889 single base substitution T C downstream_gene_variant COCA-CN 5 158705889 158705889 single base substitution T C intron_variant EOPC-DE 5 158716104 158716104 single base substitution C A downstream_gene_variant ESAD-UK 5 158686795 158686795 single base substitution A T upstream_gene_variant ESAD-UK 5 158687444 158687444 single base substitution G A upstream_gene_variant ESAD-UK 5 158689110 158689110 single base substitution T C upstream_gene_variant ESAD-UK 5 158689190 158689190 single base substitution C G upstream_gene_variant ESAD-UK 5 158691627 158691627 deletion of <=200bp T - intron_variant ESAD-UK 5 158692854 158692854 single base substitution A T intron_variant ESAD-UK 5 158695654 158695654 insertion of <=200bp - A intron_variant ESAD-UK 5 158696736 158696736 single base substitution C G intron_variant ESAD-UK 5 158696736 158696736 single base substitution C G upstream_gene_variant ESAD-UK 5 158697049 158697049 single base substitution A C intron_variant ESAD-UK 5 158697049 158697049 single base substitution A C upstream_gene_variant ESAD-UK 5 158699156 158699156 single base substitution T C intron_variant ESAD-UK 5 158699156 158699156 single base substitution T C upstream_gene_variant ESAD-UK 5 158701533 158701533 insertion of <=200bp - T exon_variant ESAD-UK 5 158701533 158701533 insertion of <=200bp - T intron_variant ESAD-UK 5 158701533 158701533 insertion of <=200bp - T upstream_gene_variant ESAD-UK 5 158701761 158701761 single base substitution G T intron_variant ESAD-UK 5 158702655 158702655 single base substitution C T downstream_gene_variant ESAD-UK 5 158702655 158702655 single base substitution C T intron_variant ESAD-UK 5 158704300 158704300 single base substitution C A downstream_gene_variant ESAD-UK 5 158704300 158704300 single base substitution C A intron_variant ESAD-UK 5 158715258 158715258 single base substitution C G downstream_gene_variant ESAD-UK 5 158716411 158716411 single base substitution T C downstream_gene_variant ESAD-UK 5 158716418 158716418 single base substitution G C downstream_gene_variant KIRC-US 5 158696067 158696067 single base substitution C G synonymous_variant L48L 144C>G KIRC-US 5 158697539 158697539 single base substitution A T missense_variant E112D 336A>T KIRC-US 5 158697539 158697539 single base substitution A T upstream_gene_variant KIRC-US 5 158710292 158710292 single base substitution A C exon_variant KIRC-US 5 158710292 158710292 single base substitution A C missense_variant K292Q 874A>C LGG-US 5 158697549 158697549 single base substitution C A missense_variant L116M 346C>A LGG-US 5 158697549 158697549 single base substitution C A upstream_gene_variant LICA-FR 5 158710225 158710225 single base substitution G A exon_variant LICA-FR 5 158710225 158710225 single base substitution G A synonymous_variant R269R 807G>A LICA-FR 5 158713751 158713751 single base substitution T A downstream_gene_variant LIHC-US 5 158705274 158705274 single base substitution A G downstream_gene_variant LIHC-US 5 158705274 158705274 single base substitution A G exon_variant LIHC-US 5 158705274 158705274 single base substitution A G missense_variant K238R 713A>G LINC-JP 5 158692849 158692849 single base substitution G T intron_variant LINC-JP 5 158697729 158697729 single base substitution C T intron_variant LINC-JP 5 158697729 158697729 single base substitution C T upstream_gene_variant LINC-JP 5 158701434 158701434 single base substitution T C exon_variant LINC-JP 5 158701434 158701434 single base substitution T C intron_variant LINC-JP 5 158701434 158701434 single base substitution T C upstream_gene_variant LINC-JP 5 158701846 158701846 single base substitution C T intron_variant LINC-JP 5 158702943 158702943 single base substitution C A downstream_gene_variant LINC-JP 5 158702943 158702943 single base substitution C A intron_variant LINC-JP 5 158712151 158712157 deletion of <=200bp ACGCTTG - 3_prime_UTR_variant LINC-JP 5 158712151 158712157 deletion of <=200bp ACGCTTG - exon_variant LINC-JP 5 158717615 158717615 single base substitution A G downstream_gene_variant LIRI-JP 5 158685093 158685093 single base substitution T C upstream_gene_variant LIRI-JP 5 158685140 158685140 single base substitution A T upstream_gene_variant LIRI-JP 5 158685275 158685275 single base substitution G T upstream_gene_variant LIRI-JP 5 158685488 158685488 single base substitution T A upstream_gene_variant LIRI-JP 5 158685607 158685607 single base substitution G C upstream_gene_variant LIRI-JP 5 158685837 158685837 single base substitution A C upstream_gene_variant LIRI-JP 5 158687527 158687527 single base substitution C T upstream_gene_variant LIRI-JP 5 158687593 158687593 single base substitution T C upstream_gene_variant LIRI-JP 5 158689512 158689512 single base substitution C A upstream_gene_variant LIRI-JP 5 158691556 158691556 single base substitution T A intron_variant LIRI-JP 5 158691904 158691904 single base substitution C T intron_variant LIRI-JP 5 158692088 158692088 single base substitution A G intron_variant LIRI-JP 5 158692520 158692520 single base substitution A G intron_variant LIRI-JP 5 158696965 158696965 single base substitution A G synonymous_variant P68P 204A>G LIRI-JP 5 158696965 158696965 single base substitution A G upstream_gene_variant LIRI-JP 5 158698763 158698763 single base substitution A C intron_variant LIRI-JP 5 158698763 158698763 single base substitution A C upstream_gene_variant LIRI-JP 5 158703318 158703318 single base substitution G A downstream_gene_variant LIRI-JP 5 158703318 158703318 single base substitution G A intron_variant LIRI-JP 5 158707370 158707370 single base substitution G A intron_variant LIRI-JP 5 158708048 158708048 single base substitution T G intron_variant LIRI-JP 5 158708216 158708216 single base substitution A G intron_variant LIRI-JP 5 158709452 158709452 single base substitution C T intron_variant LIRI-JP 5 158710134 158710134 single base substitution A G intron_variant LIRI-JP 5 158711393 158711393 single base substitution A T intron_variant LIRI-JP 5 158711614 158711614 single base substitution G T intron_variant LIRI-JP 5 158712709 158712709 single base substitution A G 3_prime_UTR_variant LIRI-JP 5 158712709 158712709 single base substitution A G exon_variant LIRI-JP 5 158712722 158712722 single base substitution A C 3_prime_UTR_variant LIRI-JP 5 158712722 158712722 single base substitution A C exon_variant LIRI-JP 5 158712911 158712911 single base substitution T A 3_prime_UTR_variant LIRI-JP 5 158712911 158712911 single base substitution T A exon_variant LIRI-JP 5 158713465 158713465 single base substitution A G downstream_gene_variant LIRI-JP 5 158714345 158714345 single base substitution A G downstream_gene_variant LIRI-JP 5 158717224 158717224 single base substitution A G downstream_gene_variant LUSC-KR 5 158691456 158691456 single base substitution G T intron_variant LUSC-KR 5 158693210 158693210 single base substitution G A intron_variant LUSC-KR 5 158697131 158697131 single base substitution C T intron_variant LUSC-KR 5 158697131 158697131 single base substitution C T upstream_gene_variant LUSC-KR 5 158697481 158697481 single base substitution C G intron_variant LUSC-KR 5 158697481 158697481 single base substitution C G upstream_gene_variant LUSC-KR 5 158698087 158698087 single base substitution T A intron_variant LUSC-KR 5 158698087 158698087 single base substitution T A upstream_gene_variant LUSC-KR 5 158699263 158699263 single base substitution A G intron_variant LUSC-KR 5 158699263 158699263 single base substitution A G upstream_gene_variant LUSC-KR 5 158710419 158710419 single base substitution C T intron_variant LUSC-KR 5 158713587 158713587 single base substitution A G downstream_gene_variant LUSC-KR 5 158713652 158713652 single base substitution G C downstream_gene_variant MALY-DE 5 158707455 158707455 single base substitution C T intron_variant MALY-DE 5 158707652 158707652 single base substitution T G intron_variant MALY-DE 5 158713882 158713882 single base substitution G C downstream_gene_variant MELA-AU 5 158685118 158685118 single base substitution G A upstream_gene_variant MELA-AU 5 158685222 158685222 single base substitution G A upstream_gene_variant MELA-AU 5 158685320 158685320 single base substitution A T upstream_gene_variant MELA-AU 5 158685960 158685960 single base substitution T C upstream_gene_variant MELA-AU 5 158685992 158685993 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 158686290 158686290 single base substitution G A upstream_gene_variant MELA-AU 5 158686358 158686358 deletion of <=200bp A - upstream_gene_variant MELA-AU 5 158686569 158686569 single base substitution G A upstream_gene_variant MELA-AU 5 158686687 158686687 single base substitution C T upstream_gene_variant MELA-AU 5 158686825 158686825 single base substitution G A upstream_gene_variant MELA-AU 5 158686909 158686909 single base substitution T A upstream_gene_variant MELA-AU 5 158688061 158688061 single base substitution T A upstream_gene_variant MELA-AU 5 158688224 158688224 single base substitution G A upstream_gene_variant MELA-AU 5 158688225 158688225 single base substitution G A upstream_gene_variant MELA-AU 5 158688294 158688294 single base substitution C T upstream_gene_variant MELA-AU 5 158688664 158688664 single base substitution T C upstream_gene_variant MELA-AU 5 158688721 158688721 single base substitution G A upstream_gene_variant MELA-AU 5 158688879 158688879 single base substitution G A upstream_gene_variant MELA-AU 5 158689359 158689359 single base substitution G A upstream_gene_variant MELA-AU 5 158689469 158689469 single base substitution A G upstream_gene_variant MELA-AU 5 158690245 158690246 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 5 158690265 158690265 single base substitution C T 5_prime_UTR_variant MELA-AU 5 158690283 158690283 single base substitution C T 5_prime_UTR_variant MELA-AU 5 158690284 158690284 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 5 158690297 158690297 single base substitution C T 5_prime_UTR_variant MELA-AU 5 158690302 158690302 single base substitution C T 5_prime_UTR_variant MELA-AU 5 158690979 158690979 single base substitution T C intron_variant MELA-AU 5 158691367 158691367 single base substitution G A intron_variant MELA-AU 5 158691523 158691523 single base substitution C T intron_variant MELA-AU 5 158691955 158691955 single base substitution C T intron_variant MELA-AU 5 158691980 158691980 single base substitution A G intron_variant MELA-AU 5 158692206 158692206 single base substitution C T intron_variant MELA-AU 5 158692589 158692589 single base substitution C T intron_variant MELA-AU 5 158692610 158692610 single base substitution C T intron_variant MELA-AU 5 158692642 158692642 insertion of <=200bp - T intron_variant MELA-AU 5 158692679 158692679 single base substitution C T intron_variant MELA-AU 5 158692704 158692704 single base substitution G A intron_variant MELA-AU 5 158693226 158693226 single base substitution A T intron_variant MELA-AU 5 158693982 158693982 single base substitution C T intron_variant MELA-AU 5 158694709 158694709 single base substitution C T intron_variant MELA-AU 5 158694711 158694711 single base substitution T G intron_variant MELA-AU 5 158695491 158695491 single base substitution G C intron_variant MELA-AU 5 158696205 158696205 single base substitution C T intron_variant MELA-AU 5 158696584 158696584 single base substitution A G intron_variant MELA-AU 5 158696584 158696584 single base substitution A G upstream_gene_variant MELA-AU 5 158696787 158696787 insertion of <=200bp - A intron_variant MELA-AU 5 158696787 158696787 insertion of <=200bp - A upstream_gene_variant MELA-AU 5 158698141 158698141 single base substitution G A intron_variant MELA-AU 5 158698141 158698141 single base substitution G A upstream_gene_variant MELA-AU 5 158698164 158698164 single base substitution C T intron_variant MELA-AU 5 158698164 158698164 single base substitution C T upstream_gene_variant MELA-AU 5 158698228 158698228 single base substitution G A intron_variant MELA-AU 5 158698228 158698228 single base substitution G A upstream_gene_variant MELA-AU 5 158699032 158699032 single base substitution C T splice_region_variant MELA-AU 5 158699032 158699032 single base substitution C T upstream_gene_variant MELA-AU 5 158699411 158699411 single base substitution C T intron_variant MELA-AU 5 158699411 158699411 single base substitution C T upstream_gene_variant MELA-AU 5 158699690 158699690 single base substitution C T intron_variant MELA-AU 5 158699690 158699690 single base substitution C T upstream_gene_variant MELA-AU 5 158701535 158701535 single base substitution T A exon_variant MELA-AU 5 158701535 158701535 single base substitution T A intron_variant MELA-AU 5 158701535 158701535 single base substitution T A upstream_gene_variant MELA-AU 5 158701975 158701975 single base substitution C T intron_variant MELA-AU 5 158702626 158702626 single base substitution T C downstream_gene_variant MELA-AU 5 158702626 158702626 single base substitution T C intron_variant MELA-AU 5 158702678 158702679 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 158702678 158702679 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 158704176 158704176 single base substitution C T downstream_gene_variant MELA-AU 5 158704176 158704176 single base substitution C T intron_variant MELA-AU 5 158704688 158704688 single base substitution T C downstream_gene_variant MELA-AU 5 158704688 158704688 single base substitution T C intron_variant MELA-AU 5 158707250 158707250 single base substitution C T downstream_gene_variant MELA-AU 5 158707250 158707250 single base substitution C T intron_variant MELA-AU 5 158707530 158707530 single base substitution C T intron_variant MELA-AU 5 158707939 158707939 insertion of <=200bp - T intron_variant MELA-AU 5 158708507 158708507 single base substitution C T intron_variant MELA-AU 5 158708675 158708675 single base substitution C T intron_variant MELA-AU 5 158709080 158709080 single base substitution C T intron_variant MELA-AU 5 158709523 158709523 single base substitution C T intron_variant MELA-AU 5 158709541 158709541 single base substitution C T intron_variant MELA-AU 5 158709907 158709907 single base substitution A G intron_variant MELA-AU 5 158710363 158710363 single base substitution T C intron_variant MELA-AU 5 158713609 158713609 single base substitution T A downstream_gene_variant MELA-AU 5 158713635 158713635 single base substitution A G downstream_gene_variant MELA-AU 5 158713930 158713930 single base substitution C T downstream_gene_variant MELA-AU 5 158714368 158714368 single base substitution C T downstream_gene_variant MELA-AU 5 158714760 158714760 single base substitution C T downstream_gene_variant MELA-AU 5 158714936 158714936 single base substitution T A downstream_gene_variant MELA-AU 5 158715118 158715118 single base substitution C T downstream_gene_variant MELA-AU 5 158715609 158715609 single base substitution A G downstream_gene_variant MELA-AU 5 158716013 158716013 single base substitution C T downstream_gene_variant MELA-AU 5 158717566 158717567 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 158717815 158717815 single base substitution C T downstream_gene_variant MELA-AU 5 158717864 158717864 single base substitution C T downstream_gene_variant ORCA-IN 5 158699078 158699078 single base substitution C G missense_variant L166V 496C>G ORCA-IN 5 158699078 158699078 single base substitution C G upstream_gene_variant OV-AU 5 158688518 158688518 single base substitution C G upstream_gene_variant OV-AU 5 158694116 158694116 single base substitution T A intron_variant OV-AU 5 158696345 158696345 single base substitution C T intron_variant OV-AU 5 158696682 158696682 single base substitution T C intron_variant OV-AU 5 158696682 158696682 single base substitution T C upstream_gene_variant OV-AU 5 158701814 158701814 single base substitution T A intron_variant OV-AU 5 158705398 158705398 single base substitution A G downstream_gene_variant OV-AU 5 158705398 158705398 single base substitution A G intron_variant OV-AU 5 158711608 158711608 single base substitution T C intron_variant OV-AU 5 158711609 158711609 single base substitution G T intron_variant PACA-AU 5 158687681 158687681 single base substitution A T upstream_gene_variant PACA-AU 5 158689926 158689926 single base substitution C A upstream_gene_variant PACA-AU 5 158692692 158692692 single base substitution A G intron_variant PACA-AU 5 158701875 158701875 single base substitution A C intron_variant PACA-AU 5 158705577 158705577 single base substitution G A downstream_gene_variant PACA-AU 5 158705577 158705577 single base substitution G A intron_variant PACA-AU 5 158712844 158712844 single base substitution C G 3_prime_UTR_variant PACA-AU 5 158712844 158712844 single base substitution C G exon_variant PACA-AU 5 158717852 158717852 single base substitution G A downstream_gene_variant PACA-CA 5 158688844 158688844 single base substitution A G upstream_gene_variant PACA-CA 5 158691627 158691627 deletion of <=200bp T - intron_variant PACA-CA 5 158691794 158691794 single base substitution G A intron_variant PACA-CA 5 158696865 158696866 deletion of <=200bp AA - intron_variant PACA-CA 5 158696865 158696866 deletion of <=200bp AA - upstream_gene_variant PACA-CA 5 158697010 158697010 deletion of <=200bp A - splice_region_variant PACA-CA 5 158697010 158697010 deletion of <=200bp A - upstream_gene_variant PACA-CA 5 158700532 158700532 single base substitution G A intron_variant PACA-CA 5 158700532 158700532 single base substitution G A upstream_gene_variant PACA-CA 5 158700594 158700594 single base substitution A G intron_variant PACA-CA 5 158700594 158700594 single base substitution A G upstream_gene_variant PACA-CA 5 158702663 158702663 single base substitution G A downstream_gene_variant PACA-CA 5 158702663 158702663 single base substitution G A intron_variant PACA-CA 5 158708001 158708001 single base substitution A G intron_variant PACA-CA 5 158709198 158709198 single base substitution T G intron_variant PACA-CA 5 158710768 158710768 single base substitution A T intron_variant PACA-CA 5 158713344 158713344 single base substitution A G downstream_gene_variant PAEN-AU 5 158701778 158701778 single base substitution G A intron_variant PAEN-IT 5 158691865 158691865 single base substitution C T intron_variant PAEN-IT 5 158693824 158693824 single base substitution C G intron_variant PBCA-DE 5 158685906 158685906 insertion of <=200bp - TATAT upstream_gene_variant PBCA-DE 5 158697224 158697224 single base substitution G A intron_variant PBCA-DE 5 158697224 158697224 single base substitution G A upstream_gene_variant PBCA-DE 5 158703937 158703937 insertion of <=200bp - T downstream_gene_variant PBCA-DE 5 158703937 158703937 insertion of <=200bp - T intron_variant PBCA-DE 5 158706017 158706017 single base substitution G A downstream_gene_variant PBCA-DE 5 158706017 158706017 single base substitution G A intron_variant PBCA-DE 5 158715304 158715304 single base substitution T C downstream_gene_variant PRAD-CA 5 158693444 158693444 single base substitution A C intron_variant PRAD-UK 5 158690613 158690613 single base substitution C G intron_variant PRAD-UK 5 158709315 158709315 single base substitution G C intron_variant PRAD-UK 5 158712364 158712364 single base substitution C T 3_prime_UTR_variant PRAD-UK 5 158712364 158712364 single base substitution C T exon_variant PRAD-UK 5 158713462 158713462 single base substitution C T downstream_gene_variant PRAD-UK 5 158717840 158717840 single base substitution G T downstream_gene_variant RECA-EU 5 158688187 158688187 single base substitution G A upstream_gene_variant RECA-EU 5 158705436 158705436 single base substitution T A downstream_gene_variant RECA-EU 5 158705436 158705436 single base substitution T A intron_variant RECA-EU 5 158706896 158706896 single base substitution A C downstream_gene_variant RECA-EU 5 158706896 158706896 single base substitution A C intron_variant SKCA-BR 5 158686246 158686246 single base substitution C T upstream_gene_variant SKCA-BR 5 158686595 158686595 single base substitution G A upstream_gene_variant SKCA-BR 5 158690265 158690265 single base substitution C T 5_prime_UTR_variant SKCA-BR 5 158692206 158692206 single base substitution C T intron_variant SKCA-BR 5 158692792 158692792 single base substitution C T intron_variant SKCA-BR 5 158692793 158692793 single base substitution C T intron_variant SKCA-BR 5 158693693 158693693 single base substitution C T intron_variant SKCA-BR 5 158693751 158693751 single base substitution T C intron_variant SKCA-BR 5 158699024 158699024 single base substitution C T splice_region_variant SKCA-BR 5 158699024 158699024 single base substitution C T upstream_gene_variant SKCA-BR 5 158706713 158706713 single base substitution C T downstream_gene_variant SKCA-BR 5 158706713 158706713 single base substitution C T intron_variant SKCA-BR 5 158708351 158708351 single base substitution T G intron_variant SKCA-BR 5 158708387 158708387 single base substitution A T intron_variant SKCA-BR 5 158712204 158712206 deletion of <=200bp CCA - 3_prime_UTR_variant SKCA-BR 5 158712204 158712206 deletion of <=200bp CCA - exon_variant SKCA-BR 5 158712249 158712254 deletion of <=200bp CACAAA - 3_prime_UTR_variant SKCA-BR 5 158712249 158712254 deletion of <=200bp CACAAA - exon_variant SKCA-BR 5 158715763 158715763 single base substitution C T downstream_gene_variant SKCA-BR 5 158716188 158716188 single base substitution C T downstream_gene_variant SKCA-BR 5 158717862 158717862 single base substitution T C downstream_gene_variant SKCM-US 5 158697388 158697388 single base substitution C T synonymous_variant P89P 267C>T SKCM-US 5 158697388 158697388 single base substitution C T upstream_gene_variant SKCM-US 5 158697396 158697398 deletion of <=200bp ATG - inframe_deletion ND92N SKCM-US 5 158697396 158697398 deletion of <=200bp ATG - upstream_gene_variant SKCM-US 5 158699032 158699032 single base substitution C T splice_region_variant SKCM-US 5 158699032 158699032 single base substitution C T upstream_gene_variant SKCM-US 5 158710336 158710336 single base substitution A T exon_variant SKCM-US 5 158710336 158710336 single base substitution A T missense_variant K306N 918A>T THCA-SA 5 158712130 158712130 single base substitution C T 3_prime_UTR_variant THCA-SA 5 158712130 158712130 single base substitution C T exon_variant UCEC-US 5 158695984 158695984 single base substitution G A missense_variant E21K 61G>A UCEC-US 5 158695986 158695986 single base substitution A C missense_variant E21D 63A>C UCEC-US 5 158696002 158696002 single base substitution G A missense_variant D27N 79G>A UCEC-US 5 158701598 158701598 single base substitution A G exon_variant UCEC-US 5 158701598 158701598 single base substitution A G missense_variant T185A 553A>G UCEC-US 5 158705275 158705275 single base substitution G A downstream_gene_variant UCEC-US 5 158705275 158705275 single base substitution G A exon_variant UCEC-US 5 158705275 158705275 single base substitution G A synonymous_variant K238K 714G>A UCEC-US 5 158705298 158705298 single base substitution A C downstream_gene_variant UCEC-US 5 158705298 158705298 single base substitution A C exon_variant UCEC-US 5 158705298 158705298 single base substitution A C missense_variant K246T 737A>C UCEC-US 5 158705322 158705322 single base substitution T C downstream_gene_variant UCEC-US 5 158705322 158705322 single base substitution T C exon_variant UCEC-US 5 158705322 158705322 single base substitution T C missense_variant I254T 761T>C UCEC-US 5 158710265 158710265 single base substitution G T exon_variant UCEC-US 5 158710265 158710265 single base substitution G T stop_gained E283* 847G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BP-5189-01 COSM482442 c.144C>G p.L48L Substitution - coding silent 5:159269059-159269059 + CHC892T COSM4796531 c.807G>A p.R269R Substitution - coding silent 5:159283217-159283217 + TCGA-AC-A3W6-01 COSM3827577 c.816G>A p.M272I Substitution - Missense 5:159283226-159283226 + TCGA-EE-A29L-06 COSM3613378 c.450C>T p.D150D Substitution - coding silent 5:159272024-159272024 + PDA_006 COSM4998159 c.684C>A p.D228E Substitution - Missense 5:159275246-159275246 + TCGA-DU-6397-01 COSM3975366 c.346C>A p.L116M Substitution - Missense 5:159270541-159270541 + T2269 COSM4738764 c.657A>G p.V219V Substitution - coding silent 5:159275219-159275219 + TCGA-EE-A2A6-06 COSM3613379 c.918A>T p.K306N Substitution - Missense 5:159283328-159283328 + CCK81 COSM3247148 c.347T>C p.L116P Substitution - Missense 5:159270542-159270542 + sysucc-880T COSM5463417 c.332+2T>C p.? Unknown 5:159270447-159270447 + ESO-0015 COSM1269645 c.908T>G p.L303R Substitution - Missense 5:159283318-159283318 + 46M COSM5589293 c.949G>A p.G317R Substitution - Missense 5:159284923-159284923 + TCGA-AP-A051-01 COSM1065123 c.63A>C p.E21D Substitution - Missense 5:159268978-159268978 + 587376 COSM207261 c.847G>T p.E283* Substitution - Nonsense 5:159283257-159283257 + TCGA-AP-A0LM-01 COSM1065127 c.737A>C p.K246T Substitution - Missense 5:159278290-159278290 + TCGA-E2-A10C-01 COSM449222 c.319G>A p.E107K Substitution - Missense 5:159270432-159270432 + CSCC-38-T COSM4537185 c.238G>A p.E80K Substitution - Missense 5:159269991-159269991 + TCGA-AK-3430-01 COSM482444 c.874A>C p.K292Q Substitution - Missense 5:159283284-159283284 + TCGA-DI-A0WH-01 COSM1065128 c.757G>A p.D253N Substitution - Missense 5:159278310-159278310 + TCGA-DA-A1HW-06 COSM3613377 c.267C>T p.P89P Substitution - coding silent 5:159270380-159270380 + TCGA-CA-6717-01 COSM1065124 c.79G>A p.D27N Substitution - Missense 5:159268994-159268994 + TCGA-AX-A0J0-01 COSM207261 c.847G>T p.E283* Substitution - Nonsense 5:159283257-159283257 + Gp5D COSM3247155 c.558T>C p.N186N Substitution - coding silent 5:159274595-159274595 + CHC892T COSM4796531 c.807G>A p.R269R Substitution - coding silent 5:159283217-159283217 + TCGA-AZ-4315-01 COSM207261 c.847G>T p.E283* Substitution - Nonsense 5:159283257-159283257 + TCGA-AP-A059-01 COSM1065122 c.61G>A p.E21K Substitution - Missense 5:159268976-159268976 + TCGA-AP-A0LM-01 COSM1065126 c.714G>A p.K238K Substitution - coding silent 5:159278267-159278267 + 26T COSM3715029 c.496C>G p.L166V Substitution - Missense 5:159272070-159272070 + HT115 COSM3247161 c.846A>C p.K282N Substitution - Missense 5:159283256-159283256 + Gp2D COSM3247155 c.558T>C p.N186N Substitution - coding silent 5:159274595-159274595 + HCC2998 COSM3247151 c.384A>C p.E128D Substitution - Missense 5:159270579-159270579 + SNU-175 COSM3247158 c.656T>C p.V219A Substitution - Missense 5:159275218-159275218 + RK260_C01 COSM4944160 c.204A>G p.P68P Substitution - coding silent 5:159269957-159269957 + 61 COSM5737400 c.124C>T p.R42C Substitution - Missense 5:159269039-159269039 + TCGA-FV-A2QR-01 COSM4938916 c.713A>G p.K238R Substitution - Missense 5:159278266-159278266 + STC246 COSM5060889 c.501T>A p.H167Q Substitution - Missense 5:159272075-159272075 + TCGA-DM-A1D4-01 COSM1435653 c.796C>A p.L266I Substitution - Missense 5:159278349-159278349 + pfg127T COSM4763158 c.488G>A p.R163Q Substitution - Missense 5:159272062-159272062 + TCGA-CZ-5468-01 COSM482443 c.336A>T p.E112D Substitution - Missense 5:159270531-159270531 + Pat_41_B COSM5868034 c.303_304delTG p.E102fs*2 Deletion - Frameshift 5:159270416-159270417 + TCGA-BS-A0UV-01 COSM1065124 c.79G>A p.D27N Substitution - Missense 5:159268994-159268994 + SNU-C2B COSM3247150 c.381G>A p.V127V Substitution - coding silent 5:159270576-159270576 + OSCC-GB_00260111 COSM3715029 c.496C>G p.L166V Substitution - Missense 5:159272070-159272070 + TCGA-AA-A010-01 COSM286244 c.950G>A p.G317E Substitution - Missense 5:159284924-159284924 + TCGA-AP-A059-01 COSM1065125 c.553A>G p.T185A Substitution - Missense 5:159274590-159274590 + 27 COSM5748793 c.769A>G p.N257D Substitution - Missense 5:159278322-159278322 + 4095_T COSM3947207 c.113T>C p.V38A Substitution - Missense 5:159269028-159269028 + TCGA-AO-A128-01 COSM3827578 c.949G>T p.G317* Substitution - Nonsense 5:159284923-159284923 + TCGA-AX-A05Z-01 COSM1065124 c.79G>A p.D27N Substitution - Missense 5:159268994-159268994 + 1192-01-02TD COSM5417293 c.247-3T>A p.? Unknown 5:159270357-159270357 + TCGA-AX-A060-01 COSM1065129 c.761T>C p.I254T Substitution - Missense 5:159278314-159278314 + 35M COSM5582979 c.796C>T p.L266L Substitution - coding silent 5:159278349-159278349 + TCGA-13-0900-01 COSM78743 c.700G>A p.V234I Substitution - Missense 5:159278253-159278253 + 587220 COSM1231586 c.684+1G>A p.? Unknown 5:159275247-159275247 + H1155 COSM1196007 c.163G>A p.A55T Substitution - Missense 5:159269916-159269916 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.591733 5q33.3 609867

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K292Q c.874A>C 5 158710292 RCCC A T 3-UTRSNV . c.954+82A>T 5 158712018 CM ATG - InFrameDeletion p.D94delD c.281_283delATG 5 158697396 CM A T Missense p.E112D c.336A>T 5 158697539 RCCC A T Missense p.K306N c.918A>T 5 158710336 CM ATT - InFrameDeletion p.Y205delY c.613_615delTAT 5 158702181 BLCA C A Missense p.L116M c.346C>A 5 158697549 LGG C G Synonymous p.L48L c.144C>G 5 158696067 RCCC C T 3-UTRSNV . c.954+73C>T 5 158712009 CM C T Missense p.A274V c.821C>T 5 158710239 HNSC C T Synonymous p.D150D c.450C>T 5 158699032 CM C T Synonymous p.P89P c.267C>T 5 158697388 CM G A Missense p.V234I c.700G>A 5 158705261 OV T A 3-UTRSNV . c.954+975T>A 5 158712911 HC T A Nonsense p.Y146* c.438T>A 5 158697641 STAD T C IntronicSNV . c.930-362T>C 5 158711550 PIA T C Missense p.I254T c.761T>C 5 158705322 UCEC T G Missense p.L303R c.908T>G 5 158710326 ESCA