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 ACC 23 69282461 69282461 + Frame_Shift_Del DEL A A - TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chrX:69282461delA c.87delA c.(85-87)ttafs p.L29fs ACC 23 69282886 69282886 + Missense_Mutation SNP G G T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chrX:69282886G>T c.512G>T c.(511-513)cGc>cTc p.R171L BLCA 23 69282408 69282408 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 g.chrX:69282408C>G c.34C>G c.(34-36)Ctg>Gtg p.L12V BLCA 23 69282757 69282757 + Missense_Mutation SNP A A T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 g.chrX:69282757A>T c.383A>T c.(382-384)gAg>gTg p.E128V BLCA 23 69282886 69282886 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chrX:69282886G>C c.512G>C c.(511-513)cGc>cCc p.R171P BLCA 23 69283040 69283040 + Silent SNP G G A TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chrX:69283040G>A c.666G>A c.(664-666)ctG>ctA p.L222L BLCA 23 69283049 69283049 + Silent SNP G G A TCGA-2F-A9KR-01A-11D-A38G-08 TCGA-2F-A9KR-10A-01D-A38J-08 g.chrX:69283049G>A c.675G>A c.(673-675)ctG>ctA p.L225L BLCA 23 69283220 69283220 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 g.chrX:69283220C>T c.846C>T c.(844-846)ggC>ggT p.G282G BRCA 23 69282426 69282426 + Missense_Mutation SNP G G A TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 g.chrX:69282426G>A c.52G>A c.(52-54)Gag>Aag p.E18K BRCA 23 69282969 69282969 + Missense_Mutation SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 g.chrX:69282969G>A c.595G>A c.(595-597)Ggc>Agc p.G199S BRCA 23 69282995 69282995 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chrX:69282995C>T c.621C>T c.(619-621)tgC>tgT p.C207C BRCA 23 69283015 69283015 + Missense_Mutation SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 g.chrX:69283015C>T c.641C>T c.(640-642)aCg>aTg p.T214M BRCA 23 69283094 69283094 + Silent SNP G G A TCGA-A8-A0AD-01A-11W-A071-09 TCGA-A8-A0AD-10A-01W-A071-09 g.chrX:69283094G>A c.720G>A c.(718-720)tcG>tcA p.S240S CESC 23 69282720 69282720 + Missense_Mutation SNP G G C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 g.chrX:69282720G>C c.346G>C c.(346-348)Gag>Cag p.E116Q COAD 23 69282523 69282523 + Missense_Mutation SNP G G A TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chrX:69282523G>A c.149G>A c.(148-150)cGc>cAc p.R50H COAD 23 69282602 69282602 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chrX:69282602C>T c.228C>T c.(226-228)gtC>gtT p.V76V COAD 23 69282697 69282697 + Missense_Mutation SNP G G A TCGA-DM-A0X9-01A-11D-A152-10 TCGA-DM-A0X9-10A-01D-A152-10 g.chrX:69282697G>A c.323G>A c.(322-324)cGc>cAc p.R108H COAD 23 69282840 69282840 + Missense_Mutation SNP G G A TCGA-AA-3680-01A-01W-0900-09 TCGA-AA-3680-10A-01W-0900-09 g.chrX:69282840G>A c.466G>A c.(466-468)Gcc>Acc p.A156T COAD 23 69282886 69282886 + Missense_Mutation SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chrX:69282886G>A c.512G>A c.(511-513)cGc>cAc p.R171H COAD 23 69282933 69282933 + Missense_Mutation SNP C C T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chrX:69282933C>T c.559C>T c.(559-561)Ccc>Tcc p.P187S COAD 23 69283015 69283015 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chrX:69283015C>T c.641C>T c.(640-642)aCg>aTg p.T214M COADREAD 23 69282523 69282523 + Missense_Mutation SNP G G A TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chrX:69282523G>A c.149G>A c.(148-150)cGc>cAc p.R50H COADREAD 23 69282602 69282602 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chrX:69282602C>T c.228C>T c.(226-228)gtC>gtT p.V76V COADREAD 23 69282697 69282697 + Missense_Mutation SNP G G A TCGA-DM-A0X9-01A-11D-A152-10 TCGA-DM-A0X9-10A-01D-A152-10 g.chrX:69282697G>A c.323G>A c.(322-324)cGc>cAc p.R108H COADREAD 23 69282840 69282840 + Missense_Mutation SNP G G A TCGA-AA-3680-01A-01W-0900-09 TCGA-AA-3680-10A-01W-0900-09 g.chrX:69282840G>A c.466G>A c.(466-468)Gcc>Acc p.A156T COADREAD 23 69282886 69282886 + Missense_Mutation SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chrX:69282886G>A c.512G>A c.(511-513)cGc>cAc p.R171H COADREAD 23 69282896 69282896 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:69282896C>T c.522C>T c.(520-522)acC>acT p.T174T COADREAD 23 69282933 69282933 + Missense_Mutation SNP C C T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chrX:69282933C>T c.559C>T c.(559-561)Ccc>Tcc p.P187S COADREAD 23 69283015 69283015 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chrX:69283015C>T c.641C>T c.(640-642)aCg>aTg p.T214M ESCA 23 69283089 69283089 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 g.chrX:69283089G>T c.715G>T c.(715-717)Gac>Tac p.D239Y GBM 23 69282717 69282717 + Missense_Mutation SNP G G C TCGA-06-0644-01A-02D-1492-08 TCGA-06-0644-10A-01D-1492-08 g.chrX:69282717G>C c.343G>C c.(343-345)Gct>Cct p.A115P GBM 23 69282974 69282974 + Silent SNP C C T TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 g.chrX:69282974C>T c.600C>T c.(598-600)taC>taT p.Y200Y GBM 23 69283226 69283226 + Silent SNP C C G TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 g.chrX:69283226C>G c.852C>G c.(850-852)ctC>ctG p.L284L GBMLGG 23 69282578 69282578 + Silent SNP C C T TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 g.chrX:69282578C>T c.204C>T c.(202-204)gaC>gaT p.D68D GBMLGG 23 69282717 69282717 + Missense_Mutation SNP G G C TCGA-06-0644-01A-02D-1492-08 TCGA-06-0644-10A-01D-1492-08 g.chrX:69282717G>C c.343G>C c.(343-345)Gct>Cct p.A115P GBMLGG 23 69282892 69282892 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:69282892G>A c.518G>A c.(517-519)cGc>cAc p.R173H GBMLGG 23 69282974 69282974 + Silent SNP C C T TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 g.chrX:69282974C>T c.600C>T c.(598-600)taC>taT p.Y200Y GBMLGG 23 69283226 69283226 + Silent SNP C C G TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 g.chrX:69283226C>G c.852C>G c.(850-852)ctC>ctG p.L284L HNSC 23 69282814 69282814 + Missense_Mutation SNP C C T TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chrX:69282814C>T c.440C>T c.(439-441)cCg>cTg p.P147L HNSC 23 69282986 69282986 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chrX:69282986G>A c.612G>A c.(610-612)atG>atA p.M204I HNSC 23 69283070 69283070 + Silent SNP C C A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 g.chrX:69283070C>A c.696C>A c.(694-696)ccC>ccA p.P232P KIPAN 23 69282742 69282742 + Missense_Mutation SNP G G T TCGA-BP-4989-01A-01D-1462-08 TCGA-BP-4989-11A-01D-1462-08 g.chrX:69282742G>T c.368G>T c.(367-369)gGc>gTc p.G123V KIRC 23 69282742 69282742 + Missense_Mutation SNP G G T TCGA-BP-4989-01A-01D-1462-08 TCGA-BP-4989-11A-01D-1462-08 g.chrX:69282742G>T c.368G>T c.(367-369)gGc>gTc p.G123V LGG 23 69282578 69282578 + Silent SNP C C T TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 g.chrX:69282578C>T c.204C>T c.(202-204)gaC>gaT p.D68D LGG 23 69282892 69282892 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:69282892G>A c.518G>A c.(517-519)cGc>cAc p.R173H LUAD 23 69282386 69282386 + Silent SNP G G T TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chrX:69282386G>T c.12G>T c.(10-12)ccG>ccT p.P4P LUAD 23 69282483 69282483 + Missense_Mutation SNP G G A TCGA-97-8547-01A-11D-2393-08 TCGA-97-8547-10A-01D-2393-08 g.chrX:69282483G>A c.109G>A c.(109-111)Gac>Aac p.D37N LUAD 23 69282643 69282643 + Missense_Mutation SNP G G A TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 g.chrX:69282643G>A c.269G>A c.(268-270)cGc>cAc p.R90H LUAD 23 69282872 69282872 + Silent SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 g.chrX:69282872T>A c.498T>A c.(496-498)tcT>tcA p.S166S LUAD 23 69282900 69282900 + Missense_Mutation SNP A A G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chrX:69282900A>G c.526A>G c.(526-528)Agc>Ggc p.S176G LUAD 23 69282926 69282926 + Silent SNP G G A TCGA-55-8511-01A-11D-2393-08 TCGA-55-8511-10A-01D-2393-08 g.chrX:69282926G>A c.552G>A c.(550-552)gaG>gaA p.E184E LUAD 23 69282948 69282948 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 g.chrX:69282948C>A c.574C>A c.(574-576)Ccc>Acc p.P192T LUAD 23 69282977 69282977 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chrX:69282977C>T c.603C>T c.(601-603)gaC>gaT p.D201D LUAD 23 69283009 69283009 + Missense_Mutation SNP G G T TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chrX:69283009G>T c.635G>T c.(634-636)cGc>cTc p.R212L LUAD 23 69283019 69283019 + Silent SNP A A G TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chrX:69283019A>G c.645A>G c.(643-645)gcA>gcG p.A215A LUAD 23 69283033 69283033 + Missense_Mutation SNP T T C TCGA-44-8119-01A-11D-2238-08 TCGA-44-8119-10A-01D-2238-08 g.chrX:69283033T>C c.659T>C c.(658-660)cTg>cCg p.L220P LUAD 23 69283039 69283039 + Missense_Mutation SNP T T A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 g.chrX:69283039T>A c.665T>A c.(664-666)cTg>cAg p.L222Q LUAD 23 69283069 69283069 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 g.chrX:69283069C>A c.695C>A c.(694-696)cCc>cAc p.P232H LUAD 23 69283109 69283109 + Silent SNP C C A TCGA-55-8299-01A-11D-2284-08 TCGA-55-8299-10B-01D-2323-08 g.chrX:69283109C>A c.735C>A c.(733-735)atC>atA p.I245I LUAD 23 69283123 69283123 + Missense_Mutation SNP T T A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 g.chrX:69283123T>A c.749T>A c.(748-750)gTc>gAc p.V250D LUAD 23 69283183 69283183 + Missense_Mutation SNP A A T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 g.chrX:69283183A>T c.809A>T c.(808-810)aAc>aTc p.N270I LUAD 23 69283212 69283212 + Missense_Mutation SNP G G T TCGA-91-6836-01A-21D-1855-08 TCGA-91-6836-11A-01D-1855-08 g.chrX:69283212G>T c.838G>T c.(838-840)Gcc>Tcc p.A280S LUSC 23 69282924 69282924 + Nonsense_Mutation SNP G G T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chrX:69282924G>T c.550G>T c.(550-552)Gag>Tag p.E184* LUSC 23 69283241 69283241 + Nonstop_Mutation SNP G G T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 g.chrX:69283241G>T c.867G>T c.(865-867)taG>taT p.*289Y READ 23 69282896 69282896 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:69282896C>T c.522C>T c.(520-522)acC>acT p.T174T SKCM 23 69282509 69282509 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrX:69282509C>T c.135C>T c.(133-135)ctC>ctT p.L45L SKCM 23 69282557 69282557 + Silent SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 g.chrX:69282557G>A c.183G>A c.(181-183)caG>caA p.Q61Q SKCM 23 69282579 69282579 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrX:69282579G>A c.205G>A c.(205-207)Gac>Aac p.D69N SKCM 23 69282858 69282858 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 g.chrX:69282858G>A c.484G>A c.(484-486)Gtg>Atg p.V162M SKCM 23 69282951 69282951 + Missense_Mutation SNP G G A TCGA-EE-A20F-06A-21D-A196-08 TCGA-EE-A20F-10A-01D-A198-08 g.chrX:69282951G>A c.577G>A c.(577-579)Gag>Aag p.E193K SKCM 23 69283059 69283059 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chrX:69283059C>T c.685C>T c.(685-687)Ctg>Ttg p.L229L SKCM 23 69283082 69283082 + Silent SNP C C T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chrX:69283082C>T c.708C>T c.(706-708)atC>atT p.I236I SKCM 23 69283109 69283109 + Silent SNP C C T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chrX:69283109C>T c.735C>T c.(733-735)atC>atT p.I245I SKCM 23 69283110 69283110 + Missense_Mutation SNP G G A TCGA-FS-A1Z7-06A-11D-A197-08 TCGA-FS-A1Z7-10A-01D-A199-08 g.chrX:69283110G>A c.736G>A c.(736-738)Ggg>Agg p.G246R SKCM 23 69283111 69283111 + Missense_Mutation SNP G G A TCGA-FS-A1Z7-06A-11D-A197-08 TCGA-FS-A1Z7-10A-01D-A199-08 g.chrX:69283111G>A c.737G>A c.(736-738)gGg>gAg p.G246E SKCM 23 69283116 69283116 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrX:69283116G>A c.742G>A c.(742-744)Gag>Aag p.E248K SKCM 23 69283210 69283210 + Missense_Mutation SNP C C T TCGA-FS-A1ZP-06A-11D-A197-08 TCGA-FS-A1ZP-10A-01D-A199-08 g.chrX:69283210C>T c.836C>T c.(835-837)gCc>gTc p.A279V

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 X 69282408 69282408 single base substitution C G missense_variant L12V 34C>G BLCA-US X 69282757 69282757 single base substitution A T missense_variant E128V 383A>T BLCA-US X 69282886 69282886 single base substitution G C missense_variant R171P 512G>C BRCA-EU X 69277844 69277844 single base substitution G A upstream_gene_variant BRCA-EU X 69278082 69278082 deletion of <=200bp A - upstream_gene_variant BRCA-EU X 69278706 69278706 single base substitution T C upstream_gene_variant BRCA-EU X 69280254 69280254 single base substitution G C upstream_gene_variant BRCA-EU X 69281924 69281924 single base substitution G C upstream_gene_variant BRCA-EU X 69282236 69282236 single base substitution G A upstream_gene_variant BRCA-EU X 69282432 69282432 single base substitution C A missense_variant Q20K 58C>A BRCA-EU X 69282948 69282948 single base substitution C A missense_variant P192T 574C>A BRCA-EU X 69283187 69283187 single base substitution C T synonymous_variant S271S 813C>T BRCA-EU X 69283191 69283191 single base substitution A G missense_variant T273A 817A>G BRCA-EU X 69283275 69283275 single base substitution C T 3_prime_UTR_variant BRCA-EU X 69283492 69283492 single base substitution G C 3_prime_UTR_variant BRCA-EU X 69283519 69283519 single base substitution A C 3_prime_UTR_variant BRCA-EU X 69283729 69283729 single base substitution C A 3_prime_UTR_variant BRCA-EU X 69283802 69283802 single base substitution G A 3_prime_UTR_variant BRCA-EU X 69283891 69283891 single base substitution C A 3_prime_UTR_variant BRCA-EU X 69284773 69284773 single base substitution C T downstream_gene_variant BRCA-EU X 69286137 69286137 single base substitution G T downstream_gene_variant BRCA-EU X 69286366 69286366 single base substitution G T downstream_gene_variant BRCA-FR X 69283729 69283729 single base substitution C A 3_prime_UTR_variant BRCA-FR X 69287178 69287178 single base substitution G A downstream_gene_variant BRCA-KR X 69282461 69282461 single base substitution A T missense_variant L29F 87A>T BRCA-KR X 69283005 69283005 single base substitution G A missense_variant V211M 631G>A BRCA-UK X 69283492 69283492 single base substitution G C 3_prime_UTR_variant BRCA-US X 69282426 69282426 single base substitution G A missense_variant E18K 52G>A BRCA-US X 69282969 69282969 single base substitution G A missense_variant G199S 595G>A BRCA-US X 69282995 69282995 single base substitution C T synonymous_variant C207C 621C>T BRCA-US X 69283015 69283015 single base substitution C T missense_variant T214M 641C>T BRCA-US X 69283094 69283094 single base substitution G A synonymous_variant S240S 720G>A BTCA-JP X 69282320 69282320 single base substitution C A upstream_gene_variant BTCA-JP X 69282411 69282411 single base substitution C T missense_variant R13C 37C>T BTCA-JP X 69282482 69282482 single base substitution C T synonymous_variant T36T 108C>T CESC-US X 69282720 69282720 single base substitution G C missense_variant E116Q 346G>C COAD-US X 69282523 69282523 single base substitution G A missense_variant R50H 149G>A COAD-US X 69282602 69282602 single base substitution C T synonymous_variant V76V 228C>T COAD-US X 69282697 69282697 single base substitution G A missense_variant R108H 323G>A COAD-US X 69282886 69282886 single base substitution G A missense_variant R171H 512G>A COCA-CN X 69282330 69282330 single base substitution C A upstream_gene_variant COCA-CN X 69282423 69282423 single base substitution C T missense_variant R17C 49C>T COCA-CN X 69282697 69282697 single base substitution G A missense_variant R108H 323G>A COCA-CN X 69283153 69283153 single base substitution G A missense_variant R260H 779G>A COCA-CN X 69283212 69283212 single base substitution G A missense_variant A280T 838G>A GBM-US X 69282717 69282717 single base substitution G C missense_variant A115P 343G>C GBM-US X 69282974 69282974 single base substitution C T synonymous_variant Y200Y 600C>T GBM-US X 69283226 69283226 single base substitution C G synonymous_variant L284L 852C>G KIRC-US X 69282742 69282742 single base substitution G T missense_variant G123V 368G>T LAML-CN X 69282490 69282490 single base substitution C T missense_variant T39M 116C>T LAML-KR X 69282819 69282819 single base substitution G A missense_variant D149N 445G>A LICA-CN X 69283025 69283025 single base substitution A T synonymous_variant G217G 651A>T LIHC-US X 69282482 69282482 single base substitution C A synonymous_variant T36T 108C>A LINC-JP X 69282340 69282340 single base substitution C T upstream_gene_variant LINC-JP X 69282974 69282974 single base substitution C T synonymous_variant Y200Y 600C>T LINC-JP X 69283372 69283372 single base substitution C T 3_prime_UTR_variant LINC-JP X 69284411 69284411 single base substitution G A downstream_gene_variant LIRI-JP X 69277821 69277821 single base substitution T C upstream_gene_variant LIRI-JP X 69278220 69278220 single base substitution T C upstream_gene_variant LIRI-JP X 69281561 69281561 single base substitution G A upstream_gene_variant LIRI-JP X 69281928 69281928 single base substitution C T upstream_gene_variant LIRI-JP X 69282228 69282228 single base substitution G C upstream_gene_variant LIRI-JP X 69282522 69282522 single base substitution C A missense_variant R50S 148C>A LIRI-JP X 69283015 69283015 single base substitution C T missense_variant T214M 641C>T LIRI-JP X 69283340 69283340 single base substitution T C 3_prime_UTR_variant LIRI-JP X 69283778 69283778 single base substitution C A 3_prime_UTR_variant LIRI-JP X 69284207 69284207 single base substitution G T downstream_gene_variant LIRI-JP X 69284533 69284533 single base substitution C G downstream_gene_variant LUSC-KR X 69280684 69280684 single base substitution A G upstream_gene_variant LUSC-KR X 69281733 69281733 single base substitution C T upstream_gene_variant LUSC-KR X 69281975 69281975 single base substitution C T upstream_gene_variant LUSC-KR X 69282164 69282164 single base substitution C A upstream_gene_variant LUSC-KR X 69283430 69283430 single base substitution G A 3_prime_UTR_variant LUSC-KR X 69283703 69283703 single base substitution C A 3_prime_UTR_variant LUSC-KR X 69285454 69285454 single base substitution G C downstream_gene_variant LUSC-US X 69282924 69282924 single base substitution G T stop_gained E184* 550G>T LUSC-US X 69283241 69283241 single base substitution G T stop_lost *289Y 867G>T MALY-DE X 69278459 69278459 single base substitution A T upstream_gene_variant MALY-DE X 69279530 69279530 insertion of <=200bp - A upstream_gene_variant MALY-DE X 69281737 69281737 insertion of <=200bp - C upstream_gene_variant MALY-DE X 69282423 69282423 single base substitution C T missense_variant R17C 49C>T MALY-DE X 69288533 69288533 single base substitution A C downstream_gene_variant MELA-AU X 69277403 69277403 single base substitution G T upstream_gene_variant MELA-AU X 69277453 69277453 single base substitution G A upstream_gene_variant MELA-AU X 69277914 69277914 single base substitution C T upstream_gene_variant MELA-AU X 69278092 69278092 single base substitution G A upstream_gene_variant MELA-AU X 69278101 69278101 single base substitution C T upstream_gene_variant MELA-AU X 69278284 69278284 single base substitution C T upstream_gene_variant MELA-AU X 69278289 69278289 single base substitution G A upstream_gene_variant MELA-AU X 69278465 69278465 single base substitution G A upstream_gene_variant MELA-AU X 69278575 69278575 single base substitution A G upstream_gene_variant MELA-AU X 69278640 69278640 single base substitution G A upstream_gene_variant MELA-AU X 69278928 69278928 single base substitution G A upstream_gene_variant MELA-AU X 69278984 69278984 deletion of <=200bp A - upstream_gene_variant MELA-AU X 69279030 69279030 single base substitution C T upstream_gene_variant MELA-AU X 69279081 69279081 single base substitution G A upstream_gene_variant MELA-AU X 69279161 69279161 single base substitution G A upstream_gene_variant MELA-AU X 69279228 69279228 single base substitution G A upstream_gene_variant MELA-AU X 69279529 69279529 single base substitution G A upstream_gene_variant MELA-AU X 69279554 69279554 single base substitution C T upstream_gene_variant MELA-AU X 69280222 69280222 single base substitution G A upstream_gene_variant MELA-AU X 69280248 69280248 single base substitution G A upstream_gene_variant MELA-AU X 69280717 69280717 single base substitution G A upstream_gene_variant MELA-AU X 69280769 69280769 single base substitution G A upstream_gene_variant MELA-AU X 69280773 69280773 single base substitution G T upstream_gene_variant MELA-AU X 69280914 69280914 single base substitution C T upstream_gene_variant MELA-AU X 69281148 69281148 single base substitution C T upstream_gene_variant MELA-AU X 69281208 69281208 single base substitution G A upstream_gene_variant MELA-AU X 69281232 69281232 single base substitution G A upstream_gene_variant MELA-AU X 69281299 69281300 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU X 69281320 69281320 single base substitution G A upstream_gene_variant MELA-AU X 69281390 69281390 single base substitution G A upstream_gene_variant MELA-AU X 69281421 69281421 single base substitution C A upstream_gene_variant MELA-AU X 69281490 69281490 single base substitution G A upstream_gene_variant MELA-AU X 69281553 69281553 single base substitution G A upstream_gene_variant MELA-AU X 69281632 69281632 single base substitution T G upstream_gene_variant MELA-AU X 69281667 69281667 single base substitution G A upstream_gene_variant MELA-AU X 69281675 69281675 single base substitution T G upstream_gene_variant MELA-AU X 69281824 69281824 single base substitution T C upstream_gene_variant MELA-AU X 69281890 69281890 single base substitution C T upstream_gene_variant MELA-AU X 69282059 69282059 single base substitution C T upstream_gene_variant MELA-AU X 69282060 69282060 single base substitution C T upstream_gene_variant MELA-AU X 69282231 69282231 single base substitution G A upstream_gene_variant MELA-AU X 69282317 69282317 single base substitution G A upstream_gene_variant MELA-AU X 69282350 69282350 single base substitution C T 5_prime_UTR_variant MELA-AU X 69282452 69282452 single base substitution C T synonymous_variant I26I 78C>T MELA-AU X 69282595 69282595 single base substitution C T missense_variant S74F 221C>T MELA-AU X 69282687 69282687 single base substitution G A missense_variant E105K 313G>A MELA-AU X 69282812 69282812 single base substitution C T synonymous_variant I146I 438C>T MELA-AU X 69282986 69282986 single base substitution G A missense_variant M204I 612G>A MELA-AU X 69283004 69283004 single base substitution C T synonymous_variant I210I 630C>T MELA-AU X 69283226 69283226 single base substitution C T synonymous_variant L284L 852C>T MELA-AU X 69283235 69283235 single base substitution C T synonymous_variant L287L 861C>T MELA-AU X 69283338 69283338 single base substitution C T 3_prime_UTR_variant MELA-AU X 69283390 69283390 single base substitution C T 3_prime_UTR_variant MELA-AU X 69283432 69283432 single base substitution G A 3_prime_UTR_variant MELA-AU X 69283736 69283736 single base substitution G A 3_prime_UTR_variant MELA-AU X 69283876 69283876 single base substitution G A 3_prime_UTR_variant MELA-AU X 69283896 69283896 single base substitution T A 3_prime_UTR_variant MELA-AU X 69284276 69284276 single base substitution G A downstream_gene_variant MELA-AU X 69284349 69284349 single base substitution C T downstream_gene_variant MELA-AU X 69284485 69284485 single base substitution C T downstream_gene_variant MELA-AU X 69284747 69284747 single base substitution G A downstream_gene_variant MELA-AU X 69284945 69284946 multiple base substitution (>=2bp and <=200bp) TT AA downstream_gene_variant MELA-AU X 69284954 69284954 single base substitution G A downstream_gene_variant MELA-AU X 69285223 69285223 single base substitution G A downstream_gene_variant MELA-AU X 69285376 69285376 single base substitution G A downstream_gene_variant MELA-AU X 69285695 69285695 single base substitution G A downstream_gene_variant MELA-AU X 69285847 69285847 single base substitution G A downstream_gene_variant MELA-AU X 69285857 69285857 single base substitution G A downstream_gene_variant MELA-AU X 69285860 69285860 single base substitution G A downstream_gene_variant MELA-AU X 69286025 69286025 single base substitution G A downstream_gene_variant MELA-AU X 69286137 69286137 single base substitution G A downstream_gene_variant MELA-AU X 69286179 69286179 single base substitution G A downstream_gene_variant MELA-AU X 69286359 69286359 single base substitution G A downstream_gene_variant MELA-AU X 69286489 69286489 single base substitution G A downstream_gene_variant MELA-AU X 69286548 69286548 single base substitution G A downstream_gene_variant MELA-AU X 69286654 69286654 single base substitution C T downstream_gene_variant MELA-AU X 69286715 69286715 single base substitution G A downstream_gene_variant MELA-AU X 69286716 69286716 single base substitution G A downstream_gene_variant MELA-AU X 69286906 69286906 single base substitution G A downstream_gene_variant MELA-AU X 69287117 69287117 single base substitution C T downstream_gene_variant MELA-AU X 69287198 69287198 single base substitution G A downstream_gene_variant MELA-AU X 69287199 69287199 single base substitution G A downstream_gene_variant MELA-AU X 69287225 69287225 single base substitution G A downstream_gene_variant MELA-AU X 69287314 69287314 single base substitution C T downstream_gene_variant MELA-AU X 69287334 69287334 single base substitution G A downstream_gene_variant MELA-AU X 69287540 69287540 single base substitution G A downstream_gene_variant MELA-AU X 69287556 69287556 single base substitution C T downstream_gene_variant MELA-AU X 69287633 69287633 single base substitution C T downstream_gene_variant MELA-AU X 69287730 69287730 single base substitution G A downstream_gene_variant MELA-AU X 69287754 69287754 single base substitution G A downstream_gene_variant MELA-AU X 69287799 69287799 single base substitution G A downstream_gene_variant MELA-AU X 69288356 69288356 single base substitution G A downstream_gene_variant MELA-AU X 69288707 69288707 single base substitution G A downstream_gene_variant MELA-AU X 69288941 69288941 single base substitution G A downstream_gene_variant MELA-AU X 69288961 69288961 single base substitution G A downstream_gene_variant MELA-AU X 69289000 69289000 single base substitution G A downstream_gene_variant ORCA-IN X 69283147 69283147 single base substitution A T missense_variant Y258F 773A>T ORCA-IN X 69283156 69283156 single base substitution A T missense_variant Y261F 782A>T ORCA-IN X 69283212 69283212 single base substitution G A missense_variant A280T 838G>A ORCA-IN X 69285938 69285938 single base substitution G T downstream_gene_variant OV-AU X 69278386 69278386 single base substitution C G upstream_gene_variant OV-AU X 69283867 69283867 single base substitution C G 3_prime_UTR_variant OV-AU X 69283993 69283993 single base substitution T C 3_prime_UTR_variant PACA-AU X 69278829 69278829 single base substitution G A upstream_gene_variant PACA-AU X 69279874 69279874 deletion of <=200bp A - upstream_gene_variant PACA-AU X 69282815 69282815 single base substitution G A synonymous_variant P147P 441G>A PACA-AU X 69283040 69283040 single base substitution G C synonymous_variant L222L 666G>C PACA-AU X 69283361 69283361 single base substitution C T 3_prime_UTR_variant PACA-AU X 69283734 69283734 single base substitution G A 3_prime_UTR_variant PACA-AU X 69285128 69285128 single base substitution C T downstream_gene_variant PACA-CA X 69277829 69277829 single base substitution G A upstream_gene_variant PACA-CA X 69281022 69281022 single base substitution C A upstream_gene_variant PACA-CA X 69281301 69281301 insertion of <=200bp - C upstream_gene_variant PACA-CA X 69282061 69282061 single base substitution C T upstream_gene_variant PACA-CA X 69286719 69286719 single base substitution A T downstream_gene_variant PAEN-AU X 69282548 69282548 single base substitution G A synonymous_variant K58K 174G>A PBCA-DE X 69279372 69279372 single base substitution C T upstream_gene_variant PBCA-DE X 69280489 69280489 single base substitution C T upstream_gene_variant PBCA-DE X 69280753 69280753 single base substitution G T upstream_gene_variant PBCA-DE X 69281369 69281369 single base substitution A T upstream_gene_variant PBCA-DE X 69284893 69284893 single base substitution C G downstream_gene_variant READ-US X 69282425 69282425 single base substitution C T synonymous_variant R17R 51C>T SKCA-BR X 69278554 69278554 single base substitution G A upstream_gene_variant SKCA-BR X 69278949 69278949 single base substitution C T upstream_gene_variant SKCA-BR X 69280091 69280091 single base substitution C T upstream_gene_variant SKCA-BR X 69280145 69280145 single base substitution C T upstream_gene_variant SKCA-BR X 69282752 69282752 single base substitution C G synonymous_variant R126R 378C>G SKCA-BR X 69283756 69283756 single base substitution C T 3_prime_UTR_variant SKCA-BR X 69284276 69284276 single base substitution G A downstream_gene_variant SKCA-BR X 69285432 69285432 single base substitution C T downstream_gene_variant SKCA-BR X 69285532 69285532 single base substitution G A downstream_gene_variant SKCA-BR X 69285589 69285589 single base substitution G T downstream_gene_variant SKCA-BR X 69288096 69288096 single base substitution G A downstream_gene_variant SKCM-US X 69282509 69282509 single base substitution C T synonymous_variant L45L 135C>T SKCM-US X 69282557 69282557 single base substitution G A synonymous_variant Q61Q 183G>A SKCM-US X 69282579 69282579 single base substitution G A missense_variant D69N 205G>A SKCM-US X 69282627 69282627 single base substitution G A missense_variant E85K 253G>A SKCM-US X 69282858 69282858 single base substitution G A missense_variant V162M 484G>A SKCM-US X 69282951 69282951 single base substitution G A missense_variant E193K 577G>A SKCM-US X 69283059 69283059 single base substitution C T synonymous_variant L229L 685C>T SKCM-US X 69283074 69283074 single base substitution G A missense_variant E234K 700G>A SKCM-US X 69283082 69283082 single base substitution C T synonymous_variant I236I 708C>T SKCM-US X 69283109 69283109 single base substitution C T synonymous_variant I245I 735C>T SKCM-US X 69283116 69283116 single base substitution G A missense_variant E248K 742G>A SKCM-US X 69283210 69283210 single base substitution C T missense_variant A279V 836C>T STAD-US X 69282672 69282672 single base substitution A T stop_gained R100* 298A>T STAD-US X 69283028 69283028 single base substitution C T synonymous_variant G218G 654C>T STAD-US X 69283211 69283211 single base substitution C T synonymous_variant A279A 837C>T THCA-US X 69283005 69283005 single base substitution G T missense_variant V211L 631G>T UCEC-US X 69282602 69282602 single base substitution C T synonymous_variant V76V 228C>T UCEC-US X 69282633 69282633 single base substitution C T missense_variant R87W 259C>T UCEC-US X 69282994 69282994 single base substitution G A missense_variant C207Y 620G>A UCEC-US X 69283004 69283004 single base substitution C T synonymous_variant I210I 630C>T UCEC-US X 69283005 69283005 single base substitution G A missense_variant V211M 631G>A UCEC-US X 69283052 69283052 single base substitution G A synonymous_variant S226S 678G>A UCEC-US X 69283055 69283055 single base substitution C T synonymous_variant H227H 681C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HCA46 COSM4629623 c.831C>T p.A277A Substitution - coding silent 23:70063355-70063355 + TCGA-32-2638-01 COSM3406547 c.852C>G p.L284L Substitution - coding silent 23:70063376-70063376 + pfg001T COSM1469042 c.323G>A p.R108H Substitution - Missense 23:70062847-70062847 + CSCC-60-T COSM4536421 c.229G>A p.E77K Substitution - Missense 23:70062753-70062753 + 35M COSM5582020 c.643G>A p.A215T Substitution - Missense 23:70063167-70063167 + TCGA-G3-A25V-01 COSM4914583 c.108C>A p.T36T Substitution - coding silent 23:70062632-70062632 + Gp2D COSM3094823 c.692delC p.I233fs*3 Deletion - Frameshift 23:70063216-70063216 + tumor_4160100 COSM5447922 c.49C>T p.R17C Substitution - Missense 23:70062573-70062573 + CSCC-6-T COSM3562938 c.253G>A p.E85K Substitution - Missense 23:70062777-70062777 + N691T COSM236188 c.481C>A p.L161M Substitution - Missense 23:70063005-70063005 + LUAD-E00934 COSM403464 c.304G>T p.E102* Substitution - Nonsense 23:70062828-70062828 + CN-AML-CR-55-Dx COSM5425235 c.445G>A p.D149N Substitution - Missense 23:70062969-70062969 + TCGA-06-0644-01 COSM3406546 c.343G>C p.A115P Substitution - Missense 23:70062867-70062867 + T3090 COSM1626062 c.600C>T p.Y200Y Substitution - coding silent 23:70063124-70063124 + OSCC-GB_00990111 COSM4885786 c.773A>T p.Y258F Substitution - Missense 23:70063297-70063297 + TCGA-BP-4989-01 COSM488544 c.368G>T p.G123V Substitution - Missense 23:70062892-70062892 + GC_325T-GC_325N COSM262701 c.522C>T p.T174T Substitution - coding silent 23:70063046-70063046 + LUAD-QY22Z COSM404013 c.148C>G p.R50G Substitution - Missense 23:70062672-70062672 + sysucc-1028T COSM4886308 c.838G>A p.A280T Substitution - Missense 23:70063362-70063362 + LUAD_E00522 COSM388787 c.821C>A p.P274Q Substitution - Missense 23:70063345-70063345 + TCGA-F4-6856-01 COSM1469043 c.512G>A p.R171H Substitution - Missense 23:70063036-70063036 + STC252 COSM5064826 c.778C>T p.R260C Substitution - Missense 23:70063302-70063302 + TCGA-BG-A0YV-01 COSM1124355 c.631G>A p.V211M Substitution - Missense 23:70063155-70063155 + TCGA-GF-A6C9-06 COSM4900118 c.685C>T p.L229L Substitution - coding silent 23:70063209-70063209 + LUAD-RT-S01813 COSM383651 c.814G>A p.V272M Substitution - Missense 23:70063338-70063338 + TCGA-EE-A3JA-06 COSM3562943 c.708C>T p.I236I Substitution - coding silent 23:70063232-70063232 + HT55 COSM3094820 c.604G>A p.D202N Substitution - Missense 23:70063128-70063128 + T2940 COSM1626062 c.600C>T p.Y200Y Substitution - coding silent 23:70063124-70063124 + 2 COSM1124355 c.631G>A p.V211M Substitution - Missense 23:70063155-70063155 + RK308_C01 COSM194863 c.641C>T p.T214M Substitution - Missense 23:70063165-70063165 + 587220 COSM1219003 c.176A>G p.H59R Substitution - Missense 23:70062700-70062700 + KPOPBR-20-T COSM5963378 c.87A>T p.L29F Substitution - Missense 23:70062611-70062611 + 8057726 COSM3390754 c.441G>A p.P147P Substitution - coding silent 23:70062965-70062965 + C086 COSM5536376 c.255A>G p.E85E Substitution - coding silent 23:70062779-70062779 + TCGA-DM-A0X9-01 COSM1469042 c.323G>A p.R108H Substitution - Missense 23:70062847-70062847 + sysucc-1171T COSM5447922 c.49C>T p.R17C Substitution - Missense 23:70062573-70062573 + T3433 COSM3094826 c.847G>A p.V283M Substitution - Missense 23:70063371-70063371 + 2492720 COSM5723319 c.695C>T p.P232L Substitution - Missense 23:70063219-70063219 + TCGA-A8-A0AD-01 COSM457905 c.720G>A p.S240S Substitution - coding silent 23:70063244-70063244 + Pat_37_B COSM5878165 c.4G>A p.D2N Substitution - Missense 23:70062528-70062528 + ESO-0013 COSM1260730 c.718T>A p.S240T Substitution - Missense 23:70063242-70063242 + STC291 COSM1469042 c.323G>A p.R108H Substitution - Missense 23:70062847-70062847 + TCGA-A5-A0VQ-01 COSM1124353 c.620G>A p.C207Y Substitution - Missense 23:70063144-70063144 + CSCC-20-T COSM3562944 c.735C>T p.I245I Substitution - coding silent 23:70063259-70063259 + LAU63 COSM107699 c.826G>A p.E276K Substitution - Missense 23:70063350-70063350 + BD57T COSM5184630 c.37C>T p.R13C Substitution - Missense 23:70062561-70062561 + 51 COSM5734663 c.50G>A p.R17H Substitution - Missense 23:70062574-70062574 + TCGA-BT-A20J-01 COSM422509 c.512G>C p.R171P Substitution - Missense 23:70063036-70063036 + TCGA-A2-A0SY-01 COSM194863 c.641C>T p.T214M Substitution - Missense 23:70063165-70063165 + CML010T COSM5802810 c.116C>T p.T39M Substitution - Missense 23:70062640-70062640 + TCGA-D3-A5GU-06 COSM3562944 c.735C>T p.I245I Substitution - coding silent 23:70063259-70063259 + SJHGG055_A COSM4971050 c.285C>A p.H95Q Substitution - Missense 23:70062809-70062809 + TCGA-FW-A3R5-06 COSM3914165 c.742G>A p.E248K Substitution - Missense 23:70063266-70063266 + 2492722 COSM5723318 c.379G>A p.E127K Substitution - Missense 23:70062903-70062903 + SNU-C1 COSM4651039 c.213C>T p.S71S Substitution - coding silent 23:70062737-70062737 + Pat_76_B COSM5878166 c.812_813CC>TT p.S271F Substitution - Missense 23:70063336-70063337 + 2492722 COSM5723319 c.695C>T p.P232L Substitution - Missense 23:70063219-70063219 + TCGA-BH-A0B6-01 COSM3845237 c.621C>T p.C207C Substitution - coding silent 23:70063145-70063145 + ME029T COSM226874 c.429G>A p.M143I Substitution - Missense 23:70062953-70062953 + KPOPBR-04-T COSM1124355 c.631G>A p.V211M Substitution - Missense 23:70063155-70063155 + PT38 COSM1715086 c.590C>T p.S197F Substitution - Missense 23:70063114-70063114 + LUAD-F00368 COSM367767 c.622G>C p.D208H Substitution - Missense 23:70063146-70063146 + T2999 COSM4710577 c.769G>T p.V257F Substitution - Missense 23:70063293-70063293 + C086 COSM5536375 c.287G>A p.R96K Substitution - Missense 23:70062811-70062811 + TCGA-A8-A096-01 COSM457904 c.52G>A p.E18K Substitution - Missense 23:70062576-70062576 + TCGA-BF-A1Q0-01 COSM3562942 c.700G>A p.E234K Substitution - Missense 23:70063224-70063224 + 43T COSM107699 c.826G>A p.E276K Substitution - Missense 23:70063350-70063350 + BN23 COSM1626062 c.600C>T p.Y200Y Substitution - coding silent 23:70063124-70063124 + TCGA-AA-3680-01 COSM293013 c.466G>A p.A156T Substitution - Missense 23:70062990-70062990 + 8057643 COSM4135315 c.174G>A p.K58K Substitution - coding silent 23:70062698-70062698 + TCGA-FS-A1ZP-06 COSM3562945 c.836C>T p.A279V Substitution - Missense 23:70063360-70063360 + 37M COSM3562937 c.183G>A p.Q61Q Substitution - coding silent 23:70062707-70062707 + TCGA-BR-4363-01 COSM4110717 c.654C>T p.G218G Substitution - coding silent 23:70063178-70063178 + TCGA-AZ-4315-01 COSM1124351 c.228C>T p.V76V Substitution - coding silent 23:70062752-70062752 + OSCC-GB_01040111 COSM4886021 c.782A>T p.Y261F Substitution - Missense 23:70063306-70063306 + TCGA-BS-A0UF-01 COSM1124352 c.259C>T p.R87W Substitution - Missense 23:70062783-70062783 + TCGA-FW-A3R5-06 COSM3914163 c.135C>T p.L45L Substitution - coding silent 23:70062659-70062659 + TCGA-D3-A3C6-06 COSM3562937 c.183G>A p.Q61Q Substitution - coding silent 23:70062707-70062707 + LUAD-5V8LT COSM403192 c.549C>A p.D183E Substitution - Missense 23:70063073-70063073 + TCGA-E3-A3DZ-01 COSM3372318 c.631G>T p.V211L Substitution - Missense 23:70063155-70063155 + OSCC-GB_01090111 COSM4886308 c.838G>A p.A280T Substitution - Missense 23:70063362-70063362 + pfg003T COSM1644062 c.634C>T p.R212C Substitution - Missense 23:70063158-70063158 + S02384 COSM5698693 c.146C>T p.A49V Substitution - Missense 23:70062670-70062670 + TCGA-EE-A2GS-06 COSM3562940 c.484G>A p.V162M Substitution - Missense 23:70063008-70063008 + PD23578a COSM1558381 c.574C>A p.P192T Substitution - Missense 23:70063098-70063098 + TCGA-DS-A0VK-01 COSM462191 c.346G>C p.E116Q Substitution - Missense 23:70062870-70062870 + Au1 COSM1715086 c.590C>T p.S197F Substitution - Missense 23:70063114-70063114 + TCGA-D1-A0ZO-01 COSM1124357 c.681C>T p.H227H Substitution - coding silent 23:70063205-70063205 + YUNEXUS COSM5412982 c.612G>A p.M204I Substitution - Missense 23:70063136-70063136 + TCGA-AX-A05Z-01 COSM1124351 c.228C>T p.V76V Substitution - coding silent 23:70062752-70062752 + Gp2D COSM4629050 c.602A>G p.D201G Substitution - Missense 23:70063126-70063126 + LUAD-2GUGK COSM400730 c.463C>A p.R155S Substitution - Missense 23:70062987-70062987 + ATL001 COSM5711738 c.314A>C p.E105A Substitution - Missense 23:70062838-70062838 + 35M COSM5582021 c.850C>T p.L284F Substitution - Missense 23:70063374-70063374 + TCGA-AG-A002-01 COSM262701 c.522C>T p.T174T Substitution - coding silent 23:70063046-70063046 + TCGA-GV-A3JX-01 COSM1315647 c.34C>G p.L12V Substitution - Missense 23:70062558-70062558 + RK137_C01 COSM1636594 c.148C>A p.R50S Substitution - Missense 23:70062672-70062672 + TCGA-HR-A2OG-01 COSM3562939 c.313G>A p.E105K Substitution - Missense 23:70062837-70062837 + TCGA-FJ-A3ZE-01 COSM3800724 c.383A>T p.E128V Substitution - Missense 23:70062907-70062907 + TCGA-D1-A174-01 COSM1124357 c.681C>T p.H227H Substitution - coding silent 23:70063205-70063205 + 37M COSM5583907 c.462C>T p.Y154Y Substitution - coding silent 23:70062986-70062986 + YUPAT COSM1715085 c.19G>A p.E7K Substitution - Missense 23:70062543-70062543 + BN23T COSM1626062 c.600C>T p.Y200Y Substitution - coding silent 23:70063124-70063124 + TCGA-CD-A4MJ-01 COSM4110718 c.837C>T p.A279A Substitution - coding silent 23:70063361-70063361 + 2492721 COSM5723319 c.695C>T p.P232L Substitution - Missense 23:70063219-70063219 + TCGA-IH-A3EA-01 COSM3562938 c.253G>A p.E85K Substitution - Missense 23:70062777-70062777 + LUAD_E01147 COSM390697 c.302T>A p.M101K Substitution - Missense 23:70062826-70062826 + YUKLAB COSM1715086 c.590C>T p.S197F Substitution - Missense 23:70063114-70063114 + YULAXER COSM1644062 c.634C>T p.R212C Substitution - Missense 23:70063158-70063158 + HCC2998 COSM3094815 c.547G>A p.D183N Substitution - Missense 23:70063071-70063071 + TCGA-14-1823-01 COSM1626062 c.600C>T p.Y200Y Substitution - coding silent 23:70063124-70063124 + BD121T COSM5515889 c.108C>T p.T36T Substitution - coding silent 23:70062632-70062632 + YUROG COSM5412982 c.612G>A p.M204I Substitution - Missense 23:70063136-70063136 + TCGA-AY-6197-01 COSM1469041 c.149G>A p.R50H Substitution - Missense 23:70062673-70062673 + Pat_76_A COSM5878166 c.812_813CC>TT p.S271F Substitution - Missense 23:70063336-70063337 + TCGA-66-2786-01 COSM757741 c.867G>T p.*289Y Nonstop extension 23:70063391-70063391 + HCC123T COSM5816878 c.651A>T p.G217G Substitution - coding silent 23:70063175-70063175 + TCGA-46-3769-01 COSM757742 c.550G>T p.E184* Substitution - Nonsense 23:70063074-70063074 + S02273 COSM5682320 c.785C>A p.A262D Substitution - Missense 23:70063309-70063309 + 2492721 COSM5723318 c.379G>A p.E127K Substitution - Missense 23:70062903-70062903 + 8014573 COSM3390755 c.666G>C p.L222L Substitution - coding silent 23:70063190-70063190 + TCGA-BR-7959-01 COSM4110716 c.298A>T p.R100* Substitution - Nonsense 23:70062822-70062822 + BZ20 COSM5758526 c.399C>T p.A133A Substitution - coding silent 23:70062923-70062923 + T3182 COSM1626062 c.600C>T p.Y200Y Substitution - coding silent 23:70063124-70063124 + sysucc-1370T COSM1469042 c.323G>A p.R108H Substitution - Missense 23:70062847-70062847 + PD5947a COSM5781626 c.58C>A p.Q20K Substitution - Missense 23:70062582-70062582 + TCGA-E2-A2P5-01 COSM3845236 c.595G>A p.G199S Substitution - Missense 23:70063119-70063119 + HOP-62 COSM1682692 c.674T>G p.L225R Substitution - Missense 23:70063198-70063198 + TCGA-FW-A3R5-06 COSM3914164 c.205G>A p.D69N Substitution - Missense 23:70062729-70062729 + 2492723 COSM5723319 c.695C>T p.P232L Substitution - Missense 23:70063219-70063219 + LIM1899 COSM4640969 c.39C>T p.R13R Substitution - coding silent 23:70062563-70062563 + DLD1 COSM4626589 c.439C>T p.P147S Substitution - Missense 23:70062963-70062963 + TCGA-EE-A20F-06 COSM3562941 c.577G>A p.E193K Substitution - Missense 23:70063101-70063101 + SNU-175 COSM3094826 c.847G>A p.V283M Substitution - Missense 23:70063371-70063371 + TCGA-AP-A0LM-01 COSM1124356 c.678G>A p.S226S Substitution - coding silent 23:70063202-70063202 + 2492723 COSM5723318 c.379G>A p.E127K Substitution - Missense 23:70062903-70062903 + S00825 COSM5659350 c.759G>C p.P253P Substitution - coding silent 23:70063283-70063283 + TCGA-AX-A05Z-01 COSM1124354 c.630C>T p.I210I Substitution - coding silent 23:70063154-70063154 + 86564 COSM94892 c.353C>T p.S118L Substitution - Missense 23:70062877-70062877 + TCGA-EI-6917-01 COSM3424908 c.51C>T p.R17R Substitution - coding silent 23:70062575-70062575 + Gp5D COSM3094823 c.692delC p.I233fs*3 Deletion - Frameshift 23:70063216-70063216 + CSCC-27-T COSM3094818 c.584G>A p.S195N Substitution - Missense 23:70063108-70063108 + 2492720 COSM5723318 c.379G>A p.E127K Substitution - Missense 23:70062903-70062903 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.447381 Xq13.1 300714

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.R50S c.148C>A X 69282522 HC C G Missense p.L12V c.34C>G X 69282408 BLCA C G Missense p.S28R c.84C>G X 69282458 LUAD C G Synonymous p.L284L c.852C>G X 69283226 GBM C T 3-UTRSNV . c.864+105C>T X 69283343 ALL C T Missense p.A279V c.836C>T X 69283210 CM C T Missense p.L287F c.859C>T X 69283233 CM C T Missense p.P4L c.11C>T X 69282385 CM C T Missense p.R212C c.634C>T X 69283008 STAD C T Missense p.S74F c.221C>T X 69282595 CM C T Missense p.S91F c.272C>T X 69282646 CM C T Missense p.T214M c.641C>T X 69283015 BRCA C T Synonymous p.G218G c.654C>T X 69283028 STAD C T Synonymous p.H227H c.681C>T X 69283055 UCEC C T Synonymous p.I236I c.708C>T X 69283082 CM C T Synonymous p.I244I c.732C>T X 69283106 CM C T Synonymous p.Y200Y c.600C>T X 69282974 GBM GAG - InFrameDeletion p.E130delE c.388_390delGAG X 69282753 BRCA G A Missense p.A156T c.466G>A X 69282840 COREAD G A Missense p.C207Y c.620G>A X 69282994 UCEC G A Missense p.D201N c.601G>A X 69282975 BRCA G A Missense p.E105K c.313G>A X 69282687 CM G A Missense p.E168K c.502G>A X 69282876 CM G A Missense p.E18K c.52G>A X 69282426 BRCA G A Missense p.E193K c.577G>A X 69282951 CM G A Missense p.E234K c.700G>A X 69283074 CM G A Missense p.E85K c.253G>A X 69282627 CM G A Missense p.M143I c.429G>A X 69282803 CM G A Missense p.R108H c.323G>A X 69282697 STAD G A Missense p.V162M c.484G>A X 69282858 CM G A Missense p.V211M c.631G>A X 69283005 UCEC G A Synonymous p.Q61Q c.183G>A X 69282557 CM G A Synonymous p.S240S c.720G>A X 69283094 BRCA G C Missense p.A115P c.343G>C X 69282717 GBM G C Missense p.E128Q c.382G>C X 69282756 LUAD G C Missense p.R171P c.512G>C X 69282886 BLCA GG AA Missense p.G246K c.736_737delinsAA X 69283110 CM G T 3-UTRSNV . c.864+3G>T X 69283241 LUSC G T Missense p.A280S c.838G>T X 69283212 LUAD G T Missense p.A53S c.157G>T X 69282531 LUAD G T Missense p.G123V c.368G>T X 69282742 RCCC G T Missense p.V211L c.631G>T X 69283005 THCA G T Nonsense p.E184* c.550G>T X 69282924 LUSC T A Missense p.S240T c.718T>A X 69283092 ESCA