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 12 102479617 102479617 + Missense_Mutation SNP C C T TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr12:102479617C>T c.467G>A c.(466-468)gGa>gAa p.G156E BLCA 12 102494875 102494875 + Missense_Mutation SNP T T A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 g.chr12:102494875T>A c.289A>T c.(289-291)Act>Tct p.T97S BLCA 12 102506004 102506004 + Missense_Mutation SNP C C G TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr12:102506004C>G c.163G>C c.(163-165)Gaa>Caa p.E55Q CESC 12 102505983 102505983 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr12:102505983G>C c.184C>G c.(184-186)Cag>Gag p.Q62E COAD 12 102471144 102471144 + Silent SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr12:102471144G>A c.678C>T c.(676-678)gcC>gcT p.A226A COAD 12 102479585 102479585 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:102479585G>A c.499C>T c.(499-501)Cct>Tct p.P167S COAD 12 102494810 102494810 + Splice_Site SNP C C A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr12:102494810C>A c.354G>T c.(352-354)aaG>aaT p.K118N COAD 12 102512171 102512171 + Silent SNP A A G TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr12:102512171A>G c.126T>C c.(124-126)aaT>aaC p.N42N COADREAD 12 102471144 102471144 + Silent SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr12:102471144G>A c.678C>T c.(676-678)gcC>gcT p.A226A COADREAD 12 102479585 102479585 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:102479585G>A c.499C>T c.(499-501)Cct>Tct p.P167S COADREAD 12 102494810 102494810 + Splice_Site SNP C C A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr12:102494810C>A c.354G>T c.(352-354)aaG>aaT p.K118N COADREAD 12 102512171 102512171 + Silent SNP A A G TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr12:102512171A>G c.126T>C c.(124-126)aaT>aaC p.N42N DLBC 12 102494849 102494849 + Silent SNP T T C TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr12:102494849T>C c.315A>G c.(313-315)agA>agG p.R105R DLBC 12 102494849 102494849 + Silent SNP T T C TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr12:102494849T>C c.315A>G c.(313-315)agA>agG p.R105R ESCA 12 102471230 102471230 + Missense_Mutation SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 g.chr12:102471230G>T c.592C>A c.(592-594)Caa>Aaa p.Q198K ESCA 12 102471235 102471235 + Frame_Shift_Del DEL A A - TCGA-R6-A8W5-01B-11D-A37C-09 TCGA-R6-A8W5-10A-01D-A37F-09 g.chr12:102471235delA c.587delT c.(586-588)ttgfs p.L196fs GBMLGG 12 102471196 102471196 + Missense_Mutation SNP A A C TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 g.chr12:102471196A>C c.626T>G c.(625-627)gTg>gGg p.V209G HNSC 12 102471251 102471251 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr12:102471251G>A c.571C>T c.(571-573)Cgg>Tgg p.R191W HNSC 12 102471261 102471261 + Silent SNP A A G TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 g.chr12:102471261A>G c.561T>C c.(559-561)aaT>aaC p.N187N HNSC 12 102492898 102492898 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 g.chr12:102492898G>A c.435C>T c.(433-435)gaC>gaT p.D145D HNSC 12 102492909 102492909 + Missense_Mutation SNP T T G TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr12:102492909T>G c.424A>C c.(424-426)Agt>Cgt p.S142R KIPAN 12 102471203 102471203 + Frame_Shift_Del DEL C C - TCGA-CZ-5457-01A-01D-1501-10 TCGA-CZ-5457-11A-01D-1501-10 g.chr12:102471203delC c.619delG c.(619-621)gaafs p.E207fs KIPAN 12 102506003 102506011 + Splice_Site DEL TCTTCTTCC TCTTCTTCC - TCGA-B0-5698-01A-11D-1669-08 TCGA-B0-5698-10A-01D-1669-08 g.chr12:102506003_102506011delTCTTCTTCC c.157_164delGGAAGAAGA c.(157-165)ggaagaaga>a p.GRR53del KIRC 12 102471203 102471203 + Frame_Shift_Del DEL C C - TCGA-CZ-5457-01A-01D-1501-10 TCGA-CZ-5457-11A-01D-1501-10 g.chr12:102471203delC c.619delG c.(619-621)gaafs p.E207fs KIRC 12 102506003 102506011 + Splice_Site DEL TCTTCTTCC TCTTCTTCC - TCGA-B0-5698-01A-11D-1669-08 TCGA-B0-5698-10A-01D-1669-08 g.chr12:102506003_102506011delTCTTCTTCC c.157_164delGGAAGAAGA c.(157-165)ggaagaaga>a p.GRR53del LGG 12 102471196 102471196 + Missense_Mutation SNP A A C TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 g.chr12:102471196A>C c.626T>G c.(625-627)gTg>gGg p.V209G LIHC 12 102470582 102470582 + Silent SNP A A G TCGA-DD-A39Z-01A-11D-A20W-10 TCGA-DD-A39Z-11A-21D-A20W-10 g.chr12:102470582A>G c.766T>C c.(766-768)Tta>Cta p.L256L LIHC 12 102512142 102512142 + Splice_Site SNP T T A TCGA-XR-A8TF-01A-11D-A35Z-10 TCGA-XR-A8TF-10A-01D-A35Z-10 g.chr12:102512142T>A c.155A>T c.(154-156)cAg>cTg p.Q52L LIHC 12 102512230 102512230 + Missense_Mutation SNP C C T TCGA-DD-AADS-01A-11D-A40R-10 TCGA-DD-AADS-10A-01D-A40U-10 g.chr12:102512230C>T c.67G>A c.(67-69)Gaa>Aaa p.E23K LUAD 12 102512139 102512139 + Splice_Site SNP A A C TCGA-17-Z018-01A-01W-0746-08 TCGA-17-Z018-11A-01W-0746-08 g.chr12:102512139A>C c.e2+1 LUAD 12 102512147 102512147 + Silent SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 g.chr12:102512147C>A c.150G>T c.(148-150)acG>acT p.T50T LUAD 12 102512193 102512193 + Missense_Mutation SNP A A G TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 g.chr12:102512193A>G c.104T>C c.(103-105)cTa>cCa p.L35P LUAD 12 102512215 102512215 + Nonsense_Mutation SNP C C A TCGA-17-Z044-01A-01W-0746-08 TCGA-17-Z044-11A-01W-0746-08 g.chr12:102512215C>A c.82G>T c.(82-84)Gag>Tag p.E28* LUSC 12 102468178 102468178 + Missense_Mutation SNP A A G TCGA-66-2793-01A-01D-1267-08 TCGA-66-2793-11A-01D-1267-08 g.chr12:102468178A>G c.935T>C c.(934-936)gTa>gCa p.V312A LUSC 12 102468805 102468805 + Missense_Mutation SNP G G T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 g.chr12:102468805G>T c.841C>A c.(841-843)Caa>Aaa p.Q281K LUSC 12 102471172 102471172 + Missense_Mutation SNP C C A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 g.chr12:102471172C>A c.650G>T c.(649-651)tGc>tTc p.C217F LUSC 12 102471234 102471234 + Missense_Mutation SNP C C A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 g.chr12:102471234C>A c.588G>T c.(586-588)ttG>ttT p.L196F LUSC 12 102492903 102492903 + Missense_Mutation SNP T T A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 g.chr12:102492903T>A c.430A>T c.(430-432)Agt>Tgt p.S144C LUSC 12 102505967 102505967 + Missense_Mutation SNP C C A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 g.chr12:102505967C>A c.200G>T c.(199-201)cGa>cTa p.R67L OV 12 102512173 102512173 + Missense_Mutation SNP T T C TCGA-13-1494-01A-01W-0545-08 TCGA-13-1494-10A-01W-0545-08 g.chr12:102512173T>C c.124A>G c.(124-126)Aat>Gat p.N42D PRAD 12 102470594 102470594 + Missense_Mutation SNP C C G TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 g.chr12:102470594C>G c.754G>C c.(754-756)Gat>Cat p.D252H PRAD 12 102492967 102492967 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:102492967G>A c.366C>T c.(364-366)ggC>ggT p.G122G SKCM 12 102468181 102468181 + Missense_Mutation SNP C C G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 g.chr12:102468181C>G c.932G>C c.(931-933)tGt>tCt p.C311S SKCM 12 102471194 102471194 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:102471194G>A c.628C>T c.(628-630)Cca>Tca p.P210S SKCM 12 102512168 102512168 + Silent SNP A A G TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 g.chr12:102512168A>G c.129T>C c.(127-129)taT>taC p.Y43Y SKCM 12 102512251 102512251 + Missense_Mutation SNP C C G TCGA-ER-A19J-06A-11D-A196-08 TCGA-ER-A19J-10A-01D-A198-08 g.chr12:102512251C>G c.46G>C c.(46-48)Gaa>Caa p.E16Q

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR 12 102516324 102516324 single base substitution T A upstream_gene_variant BRCA-EU 12 102463241 102463242 deletion of <=200bp AT - downstream_gene_variant BRCA-EU 12 102464133 102464133 insertion of <=200bp - T downstream_gene_variant BRCA-EU 12 102464242 102464242 single base substitution A C downstream_gene_variant BRCA-EU 12 102464820 102464820 single base substitution C A downstream_gene_variant BRCA-EU 12 102465836 102465836 single base substitution T G downstream_gene_variant BRCA-EU 12 102466582 102466582 single base substitution G T downstream_gene_variant BRCA-EU 12 102466862 102466862 single base substitution G A downstream_gene_variant BRCA-EU 12 102468600 102468600 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 102468600 102468600 deletion of <=200bp A - intron_variant BRCA-EU 12 102468600 102468600 insertion of <=200bp - A downstream_gene_variant BRCA-EU 12 102468600 102468600 insertion of <=200bp - A intron_variant BRCA-EU 12 102468694 102468694 single base substitution C T downstream_gene_variant BRCA-EU 12 102468694 102468694 single base substitution C T intron_variant BRCA-EU 12 102468761 102468761 single base substitution A G downstream_gene_variant BRCA-EU 12 102468761 102468761 single base substitution A G intron_variant BRCA-EU 12 102468882 102468882 insertion of <=200bp - ACGG downstream_gene_variant BRCA-EU 12 102468882 102468882 insertion of <=200bp - ACGG intron_variant BRCA-EU 12 102471386 102471386 single base substitution A C downstream_gene_variant BRCA-EU 12 102471386 102471386 single base substitution A C intron_variant BRCA-EU 12 102471386 102471386 single base substitution A C upstream_gene_variant BRCA-EU 12 102472702 102472702 single base substitution C T downstream_gene_variant BRCA-EU 12 102472702 102472702 single base substitution C T intron_variant BRCA-EU 12 102472702 102472702 single base substitution C T upstream_gene_variant BRCA-EU 12 102475081 102475081 single base substitution C G intron_variant BRCA-EU 12 102475081 102475081 single base substitution C G upstream_gene_variant BRCA-EU 12 102475645 102475645 single base substitution T A intron_variant BRCA-EU 12 102475645 102475645 single base substitution T A upstream_gene_variant BRCA-EU 12 102476117 102476117 single base substitution C G intron_variant BRCA-EU 12 102477977 102477977 single base substitution G C intron_variant BRCA-EU 12 102478977 102478977 single base substitution C T intron_variant BRCA-EU 12 102479648 102479648 single base substitution A C intron_variant BRCA-EU 12 102479648 102479648 single base substitution A C upstream_gene_variant BRCA-EU 12 102479811 102479811 single base substitution G A intron_variant BRCA-EU 12 102479811 102479811 single base substitution G A upstream_gene_variant BRCA-EU 12 102480810 102480810 single base substitution G A intron_variant BRCA-EU 12 102480810 102480810 single base substitution G A upstream_gene_variant BRCA-EU 12 102481450 102481450 single base substitution G C intron_variant BRCA-EU 12 102481450 102481450 single base substitution G C upstream_gene_variant BRCA-EU 12 102481929 102481929 single base substitution A C intron_variant BRCA-EU 12 102481929 102481929 single base substitution A C upstream_gene_variant BRCA-EU 12 102484079 102484079 single base substitution T C intron_variant BRCA-EU 12 102484079 102484079 single base substitution T C upstream_gene_variant BRCA-EU 12 102484088 102484088 single base substitution C T intron_variant BRCA-EU 12 102484088 102484088 single base substitution C T upstream_gene_variant BRCA-EU 12 102485620 102485620 single base substitution C G intron_variant BRCA-EU 12 102485777 102485777 single base substitution C A intron_variant BRCA-EU 12 102486270 102486270 single base substitution A C intron_variant BRCA-EU 12 102487796 102487796 single base substitution C G intron_variant BRCA-EU 12 102489375 102489375 single base substitution T C intron_variant BRCA-EU 12 102491114 102491114 single base substitution C G intron_variant BRCA-EU 12 102491885 102491885 single base substitution C G intron_variant BRCA-EU 12 102492204 102492204 single base substitution C A intron_variant BRCA-EU 12 102493026 102493026 single base substitution C A intron_variant BRCA-EU 12 102493585 102493585 single base substitution C A intron_variant BRCA-EU 12 102495518 102495518 deletion of <=200bp C - intron_variant BRCA-EU 12 102498252 102498252 single base substitution T G intron_variant BRCA-EU 12 102500743 102500743 single base substitution C A intron_variant BRCA-EU 12 102502426 102502426 single base substitution C A downstream_gene_variant BRCA-EU 12 102502426 102502426 single base substitution C A intron_variant BRCA-EU 12 102506165 102506165 deletion of <=200bp A - intron_variant BRCA-EU 12 102506416 102506416 deletion of <=200bp A - intron_variant BRCA-EU 12 102506450 102506450 single base substitution A G intron_variant BRCA-EU 12 102506455 102506455 single base substitution C T intron_variant BRCA-EU 12 102506817 102506817 single base substitution A G intron_variant BRCA-EU 12 102507644 102507644 single base substitution C T downstream_gene_variant BRCA-EU 12 102507644 102507644 single base substitution C T intron_variant BRCA-EU 12 102509353 102509353 single base substitution C G downstream_gene_variant BRCA-EU 12 102509353 102509353 single base substitution C G intron_variant BRCA-EU 12 102510704 102510704 single base substitution C T downstream_gene_variant BRCA-EU 12 102510704 102510704 single base substitution C T intron_variant BRCA-EU 12 102510945 102510945 single base substitution C G downstream_gene_variant BRCA-EU 12 102510945 102510945 single base substitution C G intron_variant BRCA-EU 12 102514073 102514073 single base substitution C G upstream_gene_variant BRCA-EU 12 102516000 102516000 deletion of <=200bp C - upstream_gene_variant BRCA-EU 12 102516108 102516108 single base substitution T C upstream_gene_variant BRCA-EU 12 102518198 102518198 single base substitution T C upstream_gene_variant BRCA-FR 12 102472702 102472702 single base substitution C T downstream_gene_variant BRCA-FR 12 102472702 102472702 single base substitution C T intron_variant BRCA-FR 12 102472702 102472702 single base substitution C T upstream_gene_variant BRCA-FR 12 102475081 102475081 single base substitution C G intron_variant BRCA-FR 12 102475081 102475081 single base substitution C G upstream_gene_variant BRCA-FR 12 102481944 102481944 single base substitution C A intron_variant BRCA-FR 12 102481944 102481944 single base substitution C A upstream_gene_variant BRCA-FR 12 102494594 102494594 single base substitution T G intron_variant BRCA-FR 12 102510945 102510945 single base substitution C G downstream_gene_variant BRCA-FR 12 102510945 102510945 single base substitution C G intron_variant BRCA-FR 12 102515362 102515362 single base substitution C T upstream_gene_variant BRCA-FR 12 102516091 102516091 single base substitution C G upstream_gene_variant BRCA-KR 12 102473034 102473034 single base substitution A C intron_variant BRCA-KR 12 102473034 102473034 single base substitution A C upstream_gene_variant BRCA-UK 12 102470210 102470210 single base substitution C G downstream_gene_variant BRCA-UK 12 102470210 102470210 single base substitution C G intron_variant BRCA-UK 12 102486270 102486270 single base substitution A C intron_variant BRCA-US 12 102517753 102517753 single base substitution T C upstream_gene_variant BTCA-JP 12 102471004 102471004 single base substitution C T downstream_gene_variant BTCA-JP 12 102471004 102471004 single base substitution C T exon_variant BTCA-JP 12 102471004 102471004 single base substitution C T intron_variant BTCA-JP 12 102471004 102471004 single base substitution C T upstream_gene_variant BTCA-JP 12 102472907 102472907 single base substitution T C 3_prime_UTR_variant BTCA-JP 12 102472907 102472907 single base substitution T C exon_variant BTCA-JP 12 102472907 102472907 single base substitution T C intron_variant BTCA-JP 12 102472907 102472907 single base substitution T C upstream_gene_variant BTCA-JP 12 102493039 102493039 single base substitution T C intron_variant BTCA-JP 12 102494945 102494945 deletion of <=200bp C - intron_variant BTCA-JP 12 102512025 102512025 deletion of <=200bp T - downstream_gene_variant BTCA-JP 12 102512025 102512025 deletion of <=200bp T - intron_variant BTCA-JP 12 102512250 102512250 single base substitution T C exon_variant BTCA-JP 12 102512250 102512250 single base substitution T C missense_variant E16G 47A>G BTCA-JP 12 102514376 102514376 single base substitution G A upstream_gene_variant CESC-US 12 102505983 102505983 single base substitution G C exon_variant CESC-US 12 102505983 102505983 single base substitution G C missense_variant Q62E 184C>G CESC-US 12 102512330 102512330 single base substitution T G 5_prime_UTR_variant CESC-US 12 102512330 102512330 single base substitution T G exon_variant CESC-US 12 102517807 102517807 single base substitution G A upstream_gene_variant CLLE-ES 12 102472214 102472214 single base substitution A T downstream_gene_variant CLLE-ES 12 102472214 102472214 single base substitution A T intron_variant CLLE-ES 12 102472214 102472214 single base substitution A T upstream_gene_variant CLLE-ES 12 102474585 102474585 single base substitution G A intron_variant CLLE-ES 12 102474585 102474585 single base substitution G A upstream_gene_variant CLLE-ES 12 102478807 102478807 single base substitution T A intron_variant CLLE-ES 12 102499025 102499025 single base substitution G A intron_variant COCA-CN 12 102472860 102472860 single base substitution C A 3_prime_UTR_variant COCA-CN 12 102472860 102472860 single base substitution C A exon_variant COCA-CN 12 102472860 102472860 single base substitution C A intron_variant COCA-CN 12 102472860 102472860 single base substitution C A upstream_gene_variant COCA-CN 12 102487820 102487820 single base substitution C A intron_variant COCA-CN 12 102494767 102494767 single base substitution G A intron_variant COCA-CN 12 102505995 102505995 single base substitution C T exon_variant COCA-CN 12 102505995 102505995 single base substitution C T missense_variant V58I 172G>A COCA-CN 12 102508743 102508743 single base substitution A G downstream_gene_variant COCA-CN 12 102508743 102508743 single base substitution A G intron_variant COCA-CN 12 102517924 102517924 single base substitution T C upstream_gene_variant EOPC-DE 12 102502412 102502412 single base substitution A G downstream_gene_variant EOPC-DE 12 102502412 102502412 single base substitution A G intron_variant ESAD-UK 12 102463227 102463227 single base substitution C G downstream_gene_variant ESAD-UK 12 102463442 102463442 single base substitution A G downstream_gene_variant ESAD-UK 12 102464161 102464161 single base substitution C G downstream_gene_variant ESAD-UK 12 102464191 102464191 single base substitution G C downstream_gene_variant ESAD-UK 12 102465360 102465360 single base substitution C T downstream_gene_variant ESAD-UK 12 102465975 102465975 single base substitution C T downstream_gene_variant ESAD-UK 12 102467383 102467383 insertion of <=200bp - T downstream_gene_variant ESAD-UK 12 102467605 102467605 insertion of <=200bp - T downstream_gene_variant ESAD-UK 12 102467939 102467939 single base substitution T C downstream_gene_variant ESAD-UK 12 102469135 102469135 insertion of <=200bp - T downstream_gene_variant ESAD-UK 12 102469135 102469135 insertion of <=200bp - T intron_variant ESAD-UK 12 102470268 102470268 single base substitution C T downstream_gene_variant ESAD-UK 12 102470268 102470268 single base substitution C T intron_variant ESAD-UK 12 102472575 102472575 single base substitution C A downstream_gene_variant ESAD-UK 12 102472575 102472575 single base substitution C A intron_variant ESAD-UK 12 102472575 102472575 single base substitution C A upstream_gene_variant ESAD-UK 12 102472866 102472866 single base substitution C G 3_prime_UTR_variant ESAD-UK 12 102472866 102472866 single base substitution C G exon_variant ESAD-UK 12 102472866 102472866 single base substitution C G intron_variant ESAD-UK 12 102472866 102472866 single base substitution C G upstream_gene_variant ESAD-UK 12 102473043 102473043 single base substitution C A intron_variant ESAD-UK 12 102473043 102473043 single base substitution C A upstream_gene_variant ESAD-UK 12 102474335 102474335 single base substitution G A intron_variant ESAD-UK 12 102474335 102474335 single base substitution G A upstream_gene_variant ESAD-UK 12 102476254 102476254 single base substitution C T intron_variant ESAD-UK 12 102482304 102482304 single base substitution A G intron_variant ESAD-UK 12 102482304 102482304 single base substitution A G upstream_gene_variant ESAD-UK 12 102483249 102483249 single base substitution C T intron_variant ESAD-UK 12 102483249 102483249 single base substitution C T upstream_gene_variant ESAD-UK 12 102485694 102485694 single base substitution C T intron_variant ESAD-UK 12 102491261 102491261 single base substitution A G intron_variant ESAD-UK 12 102491659 102491659 single base substitution T A intron_variant ESAD-UK 12 102493234 102493234 insertion of <=200bp - AC intron_variant ESAD-UK 12 102495720 102495720 single base substitution C T intron_variant ESAD-UK 12 102496200 102496200 single base substitution C T intron_variant ESAD-UK 12 102499674 102499674 single base substitution A G intron_variant ESAD-UK 12 102500497 102500497 single base substitution C A intron_variant ESAD-UK 12 102505426 102505426 single base substitution C T downstream_gene_variant ESAD-UK 12 102505426 102505426 single base substitution C T intron_variant ESAD-UK 12 102506823 102506823 single base substitution C G intron_variant ESAD-UK 12 102507684 102507684 single base substitution A G downstream_gene_variant ESAD-UK 12 102507684 102507684 single base substitution A G intron_variant ESAD-UK 12 102508931 102508931 single base substitution T A downstream_gene_variant ESAD-UK 12 102508931 102508931 single base substitution T A intron_variant ESAD-UK 12 102510651 102510651 single base substitution G A downstream_gene_variant ESAD-UK 12 102510651 102510651 single base substitution G A intron_variant ESAD-UK 12 102515283 102515283 single base substitution C T upstream_gene_variant ESAD-UK 12 102515730 102515730 single base substitution G T upstream_gene_variant ESAD-UK 12 102517084 102517084 single base substitution G C upstream_gene_variant ESCA-CN 12 102468185 102468185 single base substitution G A 3_prime_UTR_variant ESCA-CN 12 102468185 102468185 single base substitution G A downstream_gene_variant ESCA-CN 12 102468185 102468185 single base substitution G A exon_variant ESCA-CN 12 102468185 102468185 single base substitution G A synonymous_variant L310L 928C>T ESCA-CN 12 102512154 102512154 single base substitution G A exon_variant ESCA-CN 12 102512154 102512154 single base substitution G A missense_variant T48M 143C>T ESCA-CN 12 102512257 102512257 single base substitution C A exon_variant ESCA-CN 12 102512257 102512257 single base substitution C A missense_variant D14Y 40G>T ESCA-CN 12 102517613 102517615 deletion of <=200bp ATT - upstream_gene_variant KIRC-US 12 102471203 102471203 deletion of <=200bp C - 3_prime_UTR_variant KIRC-US 12 102471203 102471203 deletion of <=200bp C - downstream_gene_variant KIRC-US 12 102471203 102471203 deletion of <=200bp C - exon_variant KIRC-US 12 102471203 102471203 deletion of <=200bp C - frameshift_variant E207 KIRC-US 12 102471203 102471203 deletion of <=200bp C - intron_variant KIRC-US 12 102471203 102471203 deletion of <=200bp C - upstream_gene_variant KIRC-US 12 102506003 102506011 deletion of <=200bp TCTTCTTCC - frameshift_variant QEEE53 KIRC-US 12 102506003 102506011 deletion of <=200bp TCTTCTTCC - splice_acceptor_variant LGG-US 12 102471196 102471196 single base substitution A C 3_prime_UTR_variant LGG-US 12 102471196 102471196 single base substitution A C downstream_gene_variant LGG-US 12 102471196 102471196 single base substitution A C exon_variant LGG-US 12 102471196 102471196 single base substitution A C intron_variant LGG-US 12 102471196 102471196 single base substitution A C missense_variant V209G 626T>G LGG-US 12 102471196 102471196 single base substitution A C upstream_gene_variant LICA-CN 12 102517818 102517818 single base substitution A T upstream_gene_variant LICA-FR 12 102468835 102468835 single base substitution C T 3_prime_UTR_variant LICA-FR 12 102468835 102468835 single base substitution C T downstream_gene_variant LICA-FR 12 102468835 102468835 single base substitution C T exon_variant LICA-FR 12 102468835 102468835 single base substitution C T missense_variant G180S 538G>A LICA-FR 12 102468835 102468835 single base substitution C T missense_variant G271S 811G>A LICA-FR 12 102472195 102472195 single base substitution C T downstream_gene_variant LICA-FR 12 102472195 102472195 single base substitution C T intron_variant LICA-FR 12 102472195 102472195 single base substitution C T upstream_gene_variant LICA-FR 12 102482694 102482694 single base substitution A C intron_variant LICA-FR 12 102482694 102482694 single base substitution A C upstream_gene_variant LICA-FR 12 102485369 102485369 single base substitution T C intron_variant LICA-FR 12 102494280 102494280 single base substitution T C intron_variant LICA-FR 12 102500971 102500971 single base substitution C T downstream_gene_variant LICA-FR 12 102500971 102500971 single base substitution C T intron_variant LICA-FR 12 102513849 102513849 single base substitution C G 5_prime_UTR_variant LICA-FR 12 102513849 102513849 single base substitution C G exon_variant LICA-FR 12 102513849 102513849 single base substitution C G upstream_gene_variant LINC-JP 12 102470471 102470471 deletion of <=200bp A - downstream_gene_variant LINC-JP 12 102470471 102470471 deletion of <=200bp A - intron_variant LINC-JP 12 102471182 102471182 single base substitution C T 3_prime_UTR_variant LINC-JP 12 102471182 102471182 single base substitution C T downstream_gene_variant LINC-JP 12 102471182 102471182 single base substitution C T exon_variant LINC-JP 12 102471182 102471182 single base substitution C T intron_variant LINC-JP 12 102471182 102471182 single base substitution C T missense_variant A214T 640G>A LINC-JP 12 102471182 102471182 single base substitution C T upstream_gene_variant LINC-JP 12 102474354 102474354 single base substitution T C intron_variant LINC-JP 12 102474354 102474354 single base substitution T C upstream_gene_variant LINC-JP 12 102475616 102475616 single base substitution C T intron_variant LINC-JP 12 102475616 102475616 single base substitution C T upstream_gene_variant LINC-JP 12 102496571 102496571 single base substitution G A intron_variant LINC-JP 12 102503479 102503479 single base substitution T G downstream_gene_variant LINC-JP 12 102503479 102503479 single base substitution T G intron_variant LIRI-JP 12 102468664 102468664 single base substitution C T downstream_gene_variant LIRI-JP 12 102468664 102468664 single base substitution C T intron_variant LIRI-JP 12 102470961 102470961 single base substitution T C downstream_gene_variant LIRI-JP 12 102470961 102470961 single base substitution T C exon_variant LIRI-JP 12 102470961 102470961 single base substitution T C intron_variant LIRI-JP 12 102470961 102470961 single base substitution T C upstream_gene_variant LIRI-JP 12 102471698 102471698 single base substitution T G downstream_gene_variant LIRI-JP 12 102471698 102471698 single base substitution T G intron_variant LIRI-JP 12 102471698 102471698 single base substitution T G upstream_gene_variant LIRI-JP 12 102477392 102477392 single base substitution C T intron_variant LIRI-JP 12 102480249 102480249 deletion of <=200bp C - intron_variant LIRI-JP 12 102480249 102480249 deletion of <=200bp C - upstream_gene_variant LIRI-JP 12 102483859 102483859 single base substitution C A intron_variant LIRI-JP 12 102483859 102483859 single base substitution C A upstream_gene_variant LIRI-JP 12 102484812 102484812 single base substitution A C intron_variant LIRI-JP 12 102484975 102484975 single base substitution G A intron_variant LIRI-JP 12 102487568 102487568 single base substitution T C intron_variant LIRI-JP 12 102488276 102488276 single base substitution A G intron_variant LIRI-JP 12 102489026 102489026 single base substitution G A intron_variant LIRI-JP 12 102491222 102491222 single base substitution T C intron_variant LIRI-JP 12 102492682 102492682 single base substitution A C intron_variant LIRI-JP 12 102493341 102493341 single base substitution A G intron_variant LIRI-JP 12 102494772 102494772 single base substitution A C intron_variant LIRI-JP 12 102495058 102495058 single base substitution C A intron_variant LIRI-JP 12 102495151 102495151 single base substitution G A intron_variant LIRI-JP 12 102495731 102495731 single base substitution G C intron_variant LIRI-JP 12 102497043 102497043 single base substitution C G intron_variant LIRI-JP 12 102498545 102498545 single base substitution T C intron_variant LIRI-JP 12 102498962 102498962 single base substitution C T intron_variant LIRI-JP 12 102502841 102502841 single base substitution C A downstream_gene_variant LIRI-JP 12 102502841 102502841 single base substitution C A intron_variant LIRI-JP 12 102505360 102505360 single base substitution C T downstream_gene_variant LIRI-JP 12 102505360 102505360 single base substitution C T intron_variant LIRI-JP 12 102507475 102507475 single base substitution T C downstream_gene_variant LIRI-JP 12 102507475 102507475 single base substitution T C intron_variant LIRI-JP 12 102512968 102512968 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 12 102512968 102512968 single base substitution T C intron_variant LIRI-JP 12 102512968 102512968 single base substitution T C upstream_gene_variant LIRI-JP 12 102513685 102513685 single base substitution C A intron_variant LIRI-JP 12 102513685 102513685 single base substitution C A upstream_gene_variant LIRI-JP 12 102517006 102517006 single base substitution A T upstream_gene_variant LIRI-JP 12 102517110 102517110 single base substitution C A upstream_gene_variant LIRI-JP 12 102517218 102517218 single base substitution A G upstream_gene_variant LIRI-JP 12 102517581 102517581 single base substitution T A upstream_gene_variant LIRI-JP 12 102517903 102517903 single base substitution T A upstream_gene_variant LIRI-JP 12 102518650 102518650 single base substitution A G upstream_gene_variant LUSC-KR 12 102470434 102470434 single base substitution C T downstream_gene_variant LUSC-KR 12 102470434 102470434 single base substitution C T intron_variant LUSC-KR 12 102474498 102474498 single base substitution T C intron_variant LUSC-KR 12 102474498 102474498 single base substitution T C upstream_gene_variant LUSC-KR 12 102480111 102480111 single base substitution A C intron_variant LUSC-KR 12 102480111 102480111 single base substitution A C upstream_gene_variant LUSC-KR 12 102487018 102487018 single base substitution A G intron_variant LUSC-KR 12 102489092 102489092 single base substitution C T intron_variant LUSC-KR 12 102498669 102498669 single base substitution C T intron_variant LUSC-KR 12 102500898 102500898 single base substitution C T intron_variant LUSC-KR 12 102504265 102504265 single base substitution G A downstream_gene_variant LUSC-KR 12 102504265 102504265 single base substitution G A intron_variant LUSC-KR 12 102505172 102505172 single base substitution C A downstream_gene_variant LUSC-KR 12 102505172 102505172 single base substitution C A intron_variant LUSC-KR 12 102506044 102506044 single base substitution T C intron_variant LUSC-KR 12 102506809 102506809 single base substitution G T intron_variant LUSC-KR 12 102509645 102509645 single base substitution A G downstream_gene_variant LUSC-KR 12 102509645 102509645 single base substitution A G intron_variant LUSC-KR 12 102509645 102509645 single base substitution A G splice_region_variant LUSC-KR 12 102514279 102514279 single base substitution G A upstream_gene_variant LUSC-KR 12 102517699 102517699 single base substitution T C upstream_gene_variant LUSC-KR 12 102517804 102517804 single base substitution G A upstream_gene_variant LUSC-US 12 102468178 102468178 single base substitution A G 3_prime_UTR_variant LUSC-US 12 102468178 102468178 single base substitution A G downstream_gene_variant LUSC-US 12 102468178 102468178 single base substitution A G exon_variant LUSC-US 12 102468178 102468178 single base substitution A G missense_variant V312A 935T>C LUSC-US 12 102468805 102468805 single base substitution G T 3_prime_UTR_variant LUSC-US 12 102468805 102468805 single base substitution G T downstream_gene_variant LUSC-US 12 102468805 102468805 single base substitution G T exon_variant LUSC-US 12 102468805 102468805 single base substitution G T missense_variant Q190K 568C>A LUSC-US 12 102468805 102468805 single base substitution G T missense_variant Q281K 841C>A LUSC-US 12 102471172 102471172 single base substitution C A 3_prime_UTR_variant LUSC-US 12 102471172 102471172 single base substitution C A downstream_gene_variant LUSC-US 12 102471172 102471172 single base substitution C A exon_variant LUSC-US 12 102471172 102471172 single base substitution C A intron_variant LUSC-US 12 102471172 102471172 single base substitution C A missense_variant C217F 650G>T LUSC-US 12 102471172 102471172 single base substitution C A upstream_gene_variant LUSC-US 12 102471234 102471234 single base substitution C A 3_prime_UTR_variant LUSC-US 12 102471234 102471234 single base substitution C A downstream_gene_variant LUSC-US 12 102471234 102471234 single base substitution C A exon_variant LUSC-US 12 102471234 102471234 single base substitution C A intron_variant LUSC-US 12 102471234 102471234 single base substitution C A missense_variant L196F 588G>T LUSC-US 12 102471234 102471234 single base substitution C A upstream_gene_variant LUSC-US 12 102492903 102492903 single base substitution T A exon_variant LUSC-US 12 102492903 102492903 single base substitution T A missense_variant S144C 430A>T LUSC-US 12 102505967 102505967 single base substitution C A exon_variant LUSC-US 12 102505967 102505967 single base substitution C A missense_variant R67L 200G>T MALY-DE 12 102463405 102463405 single base substitution A C downstream_gene_variant MALY-DE 12 102478344 102478344 single base substitution C T intron_variant MALY-DE 12 102481409 102481409 single base substitution C T intron_variant MALY-DE 12 102481409 102481409 single base substitution C T upstream_gene_variant MALY-DE 12 102487915 102487915 single base substitution A G intron_variant MALY-DE 12 102490353 102490353 single base substitution T C intron_variant MALY-DE 12 102494846 102494846 single base substitution T G exon_variant MALY-DE 12 102494846 102494846 single base substitution T G missense_variant L106F 318A>C MELA-AU 12 102463270 102463270 single base substitution C T downstream_gene_variant MELA-AU 12 102463647 102463647 single base substitution A T downstream_gene_variant MELA-AU 12 102463649 102463649 single base substitution T A downstream_gene_variant MELA-AU 12 102463671 102463671 single base substitution G A downstream_gene_variant MELA-AU 12 102464926 102464926 single base substitution G A downstream_gene_variant MELA-AU 12 102466088 102466088 single base substitution G A downstream_gene_variant MELA-AU 12 102466576 102466576 single base substitution G A downstream_gene_variant MELA-AU 12 102467955 102467955 single base substitution A C downstream_gene_variant MELA-AU 12 102468188 102468188 single base substitution G A 3_prime_UTR_variant MELA-AU 12 102468188 102468188 single base substitution G A downstream_gene_variant MELA-AU 12 102468188 102468188 single base substitution G A exon_variant MELA-AU 12 102468188 102468188 single base substitution G A missense_variant P309S 925C>T MELA-AU 12 102468322 102468322 single base substitution G A downstream_gene_variant MELA-AU 12 102468322 102468322 single base substitution G A intron_variant MELA-AU 12 102468619 102468619 single base substitution A T downstream_gene_variant MELA-AU 12 102468619 102468619 single base substitution A T intron_variant MELA-AU 12 102468885 102468885 single base substitution G A downstream_gene_variant MELA-AU 12 102468885 102468885 single base substitution G A intron_variant MELA-AU 12 102469061 102469061 single base substitution T C downstream_gene_variant MELA-AU 12 102469061 102469061 single base substitution T C intron_variant MELA-AU 12 102469145 102469145 single base substitution G A downstream_gene_variant MELA-AU 12 102469145 102469145 single base substitution G A intron_variant MELA-AU 12 102469460 102469460 single base substitution A G downstream_gene_variant MELA-AU 12 102469460 102469460 single base substitution A G intron_variant MELA-AU 12 102469953 102469953 single base substitution G A downstream_gene_variant MELA-AU 12 102469953 102469953 single base substitution G A intron_variant MELA-AU 12 102470007 102470007 single base substitution C G downstream_gene_variant MELA-AU 12 102470007 102470007 single base substitution C G intron_variant MELA-AU 12 102470470 102470470 single base substitution G A downstream_gene_variant MELA-AU 12 102470470 102470470 single base substitution G A intron_variant MELA-AU 12 102471412 102471412 single base substitution T C downstream_gene_variant MELA-AU 12 102471412 102471412 single base substitution T C intron_variant MELA-AU 12 102471412 102471412 single base substitution T C upstream_gene_variant MELA-AU 12 102472092 102472092 single base substitution G A downstream_gene_variant MELA-AU 12 102472092 102472092 single base substitution G A intron_variant MELA-AU 12 102472092 102472092 single base substitution G A upstream_gene_variant MELA-AU 12 102472322 102472322 single base substitution A G downstream_gene_variant MELA-AU 12 102472322 102472322 single base substitution A G intron_variant MELA-AU 12 102472322 102472322 single base substitution A G upstream_gene_variant MELA-AU 12 102472470 102472470 single base substitution A C downstream_gene_variant MELA-AU 12 102472470 102472470 single base substitution A C intron_variant MELA-AU 12 102472470 102472470 single base substitution A C upstream_gene_variant MELA-AU 12 102473495 102473495 single base substitution G A intron_variant MELA-AU 12 102473495 102473495 single base substitution G A upstream_gene_variant MELA-AU 12 102473604 102473604 single base substitution G A intron_variant MELA-AU 12 102473604 102473604 single base substitution G A upstream_gene_variant MELA-AU 12 102473697 102473698 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 102473697 102473698 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 102473771 102473771 single base substitution G A intron_variant MELA-AU 12 102473771 102473771 single base substitution G A upstream_gene_variant MELA-AU 12 102473970 102473970 single base substitution G A intron_variant MELA-AU 12 102473970 102473970 single base substitution G A upstream_gene_variant MELA-AU 12 102474586 102474586 single base substitution G A intron_variant MELA-AU 12 102474586 102474586 single base substitution G A upstream_gene_variant MELA-AU 12 102474614 102474614 single base substitution G A intron_variant MELA-AU 12 102474614 102474614 single base substitution G A upstream_gene_variant MELA-AU 12 102475397 102475397 single base substitution G A intron_variant MELA-AU 12 102475397 102475397 single base substitution G A upstream_gene_variant MELA-AU 12 102475436 102475436 single base substitution C T intron_variant MELA-AU 12 102475436 102475436 single base substitution C T upstream_gene_variant MELA-AU 12 102475805 102475805 single base substitution C T intron_variant MELA-AU 12 102476446 102476446 single base substitution G A intron_variant MELA-AU 12 102476507 102476507 single base substitution G A intron_variant MELA-AU 12 102476623 102476623 single base substitution G A intron_variant MELA-AU 12 102476709 102476709 single base substitution G A intron_variant MELA-AU 12 102476789 102476789 single base substitution G A intron_variant MELA-AU 12 102477118 102477118 single base substitution C T intron_variant MELA-AU 12 102477196 102477196 single base substitution G A intron_variant MELA-AU 12 102477649 102477649 single base substitution G A intron_variant MELA-AU 12 102478000 102478000 single base substitution G A intron_variant MELA-AU 12 102478023 102478023 single base substitution G A intron_variant MELA-AU 12 102478152 102478152 single base substitution G A intron_variant MELA-AU 12 102479309 102479309 single base substitution G A intron_variant MELA-AU 12 102479551 102479551 single base substitution G T exon_variant MELA-AU 12 102479551 102479551 single base substitution G T intron_variant MELA-AU 12 102479551 102479551 single base substitution G T missense_variant T178N 533C>A MELA-AU 12 102479585 102479585 single base substitution G A exon_variant MELA-AU 12 102479585 102479585 single base substitution G A intron_variant MELA-AU 12 102479585 102479585 single base substitution G A missense_variant P167S 499C>T MELA-AU 12 102480167 102480167 single base substitution A G intron_variant MELA-AU 12 102480167 102480167 single base substitution A G upstream_gene_variant MELA-AU 12 102480504 102480504 single base substitution G A intron_variant MELA-AU 12 102480504 102480504 single base substitution G A upstream_gene_variant MELA-AU 12 102480643 102480643 single base substitution C T intron_variant MELA-AU 12 102480643 102480643 single base substitution C T upstream_gene_variant MELA-AU 12 102480760 102480760 single base substitution G A intron_variant MELA-AU 12 102480760 102480760 single base substitution G A upstream_gene_variant MELA-AU 12 102480927 102480927 single base substitution G A intron_variant MELA-AU 12 102480927 102480927 single base substitution G A upstream_gene_variant MELA-AU 12 102481008 102481008 single base substitution G A intron_variant MELA-AU 12 102481008 102481008 single base substitution G A upstream_gene_variant MELA-AU 12 102482360 102482360 single base substitution G A intron_variant MELA-AU 12 102482360 102482360 single base substitution G A upstream_gene_variant MELA-AU 12 102483309 102483309 single base substitution C T intron_variant MELA-AU 12 102483309 102483309 single base substitution C T upstream_gene_variant MELA-AU 12 102483448 102483448 single base substitution T C intron_variant MELA-AU 12 102483448 102483448 single base substitution T C upstream_gene_variant MELA-AU 12 102483733 102483733 single base substitution G A intron_variant MELA-AU 12 102483733 102483733 single base substitution G A upstream_gene_variant MELA-AU 12 102483779 102483779 single base substitution G A intron_variant MELA-AU 12 102483779 102483779 single base substitution G A upstream_gene_variant MELA-AU 12 102484146 102484146 single base substitution T C intron_variant MELA-AU 12 102484146 102484146 single base substitution T C upstream_gene_variant MELA-AU 12 102484367 102484367 single base substitution G A intron_variant MELA-AU 12 102484367 102484367 single base substitution G A upstream_gene_variant MELA-AU 12 102484415 102484415 single base substitution C A intron_variant MELA-AU 12 102484415 102484415 single base substitution C A upstream_gene_variant MELA-AU 12 102484941 102484941 single base substitution G A intron_variant MELA-AU 12 102485385 102485385 single base substitution G A intron_variant MELA-AU 12 102485879 102485879 single base substitution G A intron_variant MELA-AU 12 102485952 102485952 single base substitution G A intron_variant MELA-AU 12 102486179 102486179 single base substitution G A intron_variant MELA-AU 12 102486368 102486368 single base substitution A G intron_variant MELA-AU 12 102486461 102486461 single base substitution G A intron_variant MELA-AU 12 102487217 102487217 single base substitution G A intron_variant MELA-AU 12 102487408 102487408 single base substitution G A intron_variant MELA-AU 12 102487512 102487513 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 102488278 102488278 single base substitution T C intron_variant MELA-AU 12 102488696 102488696 single base substitution T A intron_variant MELA-AU 12 102488731 102488731 single base substitution G A intron_variant MELA-AU 12 102488924 102488924 single base substitution G A intron_variant MELA-AU 12 102489274 102489274 single base substitution G A intron_variant MELA-AU 12 102492444 102492444 single base substitution G A intron_variant MELA-AU 12 102495566 102495566 single base substitution G A intron_variant MELA-AU 12 102496853 102496854 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 102497014 102497014 single base substitution G A intron_variant MELA-AU 12 102497305 102497305 single base substitution G A intron_variant MELA-AU 12 102497382 102497382 single base substitution G A intron_variant MELA-AU 12 102498544 102498544 single base substitution G A intron_variant MELA-AU 12 102498708 102498708 single base substitution G A intron_variant MELA-AU 12 102498837 102498837 single base substitution T A intron_variant MELA-AU 12 102498990 102498991 deletion of <=200bp TA - intron_variant MELA-AU 12 102499232 102499232 single base substitution C T intron_variant MELA-AU 12 102499338 102499338 single base substitution A G intron_variant MELA-AU 12 102499354 102499354 single base substitution C T intron_variant MELA-AU 12 102499460 102499460 single base substitution G A intron_variant MELA-AU 12 102499597 102499597 single base substitution G A intron_variant MELA-AU 12 102499721 102499721 single base substitution G A intron_variant MELA-AU 12 102500539 102500539 single base substitution G A intron_variant MELA-AU 12 102500661 102500661 single base substitution C T intron_variant MELA-AU 12 102500847 102500847 single base substitution G A intron_variant MELA-AU 12 102501059 102501059 single base substitution G A downstream_gene_variant MELA-AU 12 102501059 102501059 single base substitution G A intron_variant MELA-AU 12 102501310 102501310 single base substitution G A downstream_gene_variant MELA-AU 12 102501310 102501310 single base substitution G A intron_variant MELA-AU 12 102501944 102501944 single base substitution G A downstream_gene_variant MELA-AU 12 102501944 102501944 single base substitution G A intron_variant MELA-AU 12 102502032 102502032 single base substitution G A downstream_gene_variant MELA-AU 12 102502032 102502032 single base substitution G A intron_variant MELA-AU 12 102502281 102502281 single base substitution G A downstream_gene_variant MELA-AU 12 102502281 102502281 single base substitution G A intron_variant MELA-AU 12 102502617 102502617 single base substitution C T downstream_gene_variant MELA-AU 12 102502617 102502617 single base substitution C T intron_variant MELA-AU 12 102502729 102502729 single base substitution G A downstream_gene_variant MELA-AU 12 102502729 102502729 single base substitution G A intron_variant MELA-AU 12 102503008 102503008 single base substitution G A downstream_gene_variant MELA-AU 12 102503008 102503008 single base substitution G A intron_variant MELA-AU 12 102503640 102503640 single base substitution G A downstream_gene_variant MELA-AU 12 102503640 102503640 single base substitution G A intron_variant MELA-AU 12 102504174 102504174 single base substitution G A downstream_gene_variant MELA-AU 12 102504174 102504174 single base substitution G A intron_variant MELA-AU 12 102506423 102506423 single base substitution G A intron_variant MELA-AU 12 102507086 102507086 single base substitution G A intron_variant MELA-AU 12 102507471 102507471 single base substitution G A downstream_gene_variant MELA-AU 12 102507471 102507471 single base substitution G A intron_variant MELA-AU 12 102507491 102507491 insertion of <=200bp - A downstream_gene_variant MELA-AU 12 102507491 102507491 insertion of <=200bp - A intron_variant MELA-AU 12 102507799 102507799 single base substitution G A downstream_gene_variant MELA-AU 12 102507799 102507799 single base substitution G A intron_variant MELA-AU 12 102508098 102508098 single base substitution G A downstream_gene_variant MELA-AU 12 102508098 102508098 single base substitution G A intron_variant MELA-AU 12 102509318 102509318 single base substitution T C downstream_gene_variant MELA-AU 12 102509318 102509318 single base substitution T C intron_variant MELA-AU 12 102510182 102510182 single base substitution G A downstream_gene_variant MELA-AU 12 102510182 102510182 single base substitution G A intron_variant MELA-AU 12 102510339 102510339 single base substitution G A downstream_gene_variant MELA-AU 12 102510339 102510339 single base substitution G A intron_variant MELA-AU 12 102510756 102510756 single base substitution G A downstream_gene_variant MELA-AU 12 102510756 102510756 single base substitution G A intron_variant MELA-AU 12 102510773 102510774 deletion of <=200bp CC - downstream_gene_variant MELA-AU 12 102510773 102510774 deletion of <=200bp CC - intron_variant MELA-AU 12 102511283 102511283 single base substitution G A downstream_gene_variant MELA-AU 12 102511283 102511283 single base substitution G A intron_variant MELA-AU 12 102511862 102511862 single base substitution A T downstream_gene_variant MELA-AU 12 102511862 102511862 single base substitution A T intron_variant MELA-AU 12 102513903 102513903 single base substitution C T upstream_gene_variant MELA-AU 12 102514566 102514566 single base substitution C T upstream_gene_variant MELA-AU 12 102515766 102515766 single base substitution C T upstream_gene_variant MELA-AU 12 102515867 102515867 single base substitution C T upstream_gene_variant MELA-AU 12 102516660 102516660 single base substitution C T upstream_gene_variant MELA-AU 12 102516962 102516962 single base substitution C T upstream_gene_variant MELA-AU 12 102517077 102517077 single base substitution C T upstream_gene_variant MELA-AU 12 102517470 102517471 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 102518142 102518142 single base substitution C T upstream_gene_variant ORCA-IN 12 102463535 102463535 single base substitution T C downstream_gene_variant ORCA-IN 12 102467975 102467975 single base substitution C G 3_prime_UTR_variant ORCA-IN 12 102467975 102467975 single base substitution C G downstream_gene_variant ORCA-IN 12 102467975 102467975 single base substitution C G exon_variant ORCA-IN 12 102469506 102469506 single base substitution T A downstream_gene_variant ORCA-IN 12 102469506 102469506 single base substitution T A intron_variant ORCA-IN 12 102487904 102487905 deletion of <=200bp AA - intron_variant ORCA-IN 12 102495817 102495817 single base substitution A G intron_variant ORCA-IN 12 102512302 102512302 single base substitution A G 5_prime_UTR_variant ORCA-IN 12 102512302 102512302 single base substitution A G exon_variant OV-AU 12 102465138 102465138 single base substitution C T downstream_gene_variant OV-AU 12 102473718 102473718 single base substitution A C intron_variant OV-AU 12 102473718 102473718 single base substitution A C upstream_gene_variant OV-AU 12 102474021 102474021 single base substitution T C intron_variant OV-AU 12 102474021 102474021 single base substitution T C upstream_gene_variant OV-AU 12 102488992 102488992 single base substitution A C intron_variant OV-AU 12 102492638 102492638 single base substitution A G intron_variant OV-AU 12 102493564 102493564 single base substitution A C intron_variant OV-AU 12 102501355 102501355 single base substitution T G downstream_gene_variant OV-AU 12 102501355 102501355 single base substitution T G intron_variant OV-AU 12 102501558 102501558 single base substitution G T downstream_gene_variant OV-AU 12 102501558 102501558 single base substitution G T intron_variant OV-AU 12 102501565 102501565 single base substitution C A downstream_gene_variant OV-AU 12 102501565 102501565 single base substitution C A intron_variant OV-AU 12 102510883 102510883 single base substitution T A downstream_gene_variant OV-AU 12 102510883 102510883 single base substitution T A intron_variant OV-AU 12 102513798 102513798 single base substitution G A intron_variant OV-AU 12 102513798 102513798 single base substitution G A upstream_gene_variant OV-AU 12 102514792 102514792 single base substitution G C upstream_gene_variant OV-AU 12 102515555 102515555 single base substitution T C upstream_gene_variant OV-AU 12 102515681 102515681 single base substitution T C upstream_gene_variant PACA-AU 12 102463241 102463241 single base substitution A T downstream_gene_variant PACA-AU 12 102465214 102465214 deletion of <=200bp A - downstream_gene_variant PACA-AU 12 102466095 102466095 single base substitution C T downstream_gene_variant PACA-AU 12 102473466 102473466 single base substitution C T intron_variant PACA-AU 12 102473466 102473466 single base substitution C T upstream_gene_variant PACA-AU 12 102484454 102484454 single base substitution A C intron_variant PACA-AU 12 102484454 102484454 single base substitution A C upstream_gene_variant PACA-AU 12 102484649 102484649 single base substitution G A intron_variant PACA-AU 12 102489317 102489317 single base substitution G A intron_variant PACA-AU 12 102489605 102489618 deletion of <=200bp CTAAAACTGTAGAT - intron_variant PACA-AU 12 102490999 102490999 single base substitution G A intron_variant PACA-AU 12 102494700 102494700 single base substitution T G intron_variant PACA-AU 12 102496724 102496724 single base substitution A G intron_variant PACA-AU 12 102505562 102505562 single base substitution T A downstream_gene_variant PACA-AU 12 102505562 102505562 single base substitution T A intron_variant PACA-AU 12 102513308 102513308 single base substitution T A intron_variant PACA-AU 12 102513308 102513308 single base substitution T A upstream_gene_variant PACA-AU 12 102513992 102513992 single base substitution G A upstream_gene_variant PACA-CA 12 102463234 102463234 deletion of <=200bp A - downstream_gene_variant PACA-CA 12 102465406 102465406 single base substitution C A downstream_gene_variant PACA-CA 12 102467342 102467342 single base substitution G C downstream_gene_variant PACA-CA 12 102468873 102468873 single base substitution C G downstream_gene_variant PACA-CA 12 102468873 102468873 single base substitution C G splice_acceptor_variant PACA-CA 12 102468954 102468954 single base substitution C G downstream_gene_variant PACA-CA 12 102468954 102468954 single base substitution C G intron_variant PACA-CA 12 102469336 102469336 single base substitution C T downstream_gene_variant PACA-CA 12 102469336 102469336 single base substitution C T intron_variant PACA-CA 12 102471999 102471999 single base substitution C T downstream_gene_variant PACA-CA 12 102471999 102471999 single base substitution C T intron_variant PACA-CA 12 102471999 102471999 single base substitution C T upstream_gene_variant PACA-CA 12 102472272 102472272 insertion of <=200bp - A downstream_gene_variant PACA-CA 12 102472272 102472272 insertion of <=200bp - A intron_variant PACA-CA 12 102472272 102472272 insertion of <=200bp - A upstream_gene_variant PACA-CA 12 102475519 102475519 single base substitution C T intron_variant PACA-CA 12 102475519 102475519 single base substitution C T upstream_gene_variant PACA-CA 12 102479445 102479465 deletion of <=200bp ATGGGAAAAATCATTGATCTT - intron_variant PACA-CA 12 102479923 102479923 single base substitution T A intron_variant PACA-CA 12 102479923 102479923 single base substitution T A upstream_gene_variant PACA-CA 12 102485268 102485268 single base substitution T C intron_variant PACA-CA 12 102486887 102486887 single base substitution T G intron_variant PACA-CA 12 102487708 102487708 single base substitution A G intron_variant PACA-CA 12 102490370 102490370 single base substitution A C intron_variant PACA-CA 12 102491337 102491337 single base substitution T C intron_variant PACA-CA 12 102494945 102494945 deletion of <=200bp C - intron_variant PACA-CA 12 102501821 102501821 single base substitution T C downstream_gene_variant PACA-CA 12 102501821 102501821 single base substitution T C intron_variant PACA-CA 12 102503146 102503146 single base substitution G C downstream_gene_variant PACA-CA 12 102503146 102503146 single base substitution G C intron_variant PACA-CA 12 102504695 102504695 single base substitution A T downstream_gene_variant PACA-CA 12 102504695 102504695 single base substitution A T intron_variant PACA-CA 12 102508325 102508325 single base substitution C A downstream_gene_variant PACA-CA 12 102508325 102508325 single base substitution C A intron_variant PACA-CA 12 102513161 102513161 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 12 102513161 102513161 single base substitution G A intron_variant PACA-CA 12 102513161 102513161 single base substitution G A upstream_gene_variant PACA-CA 12 102514412 102514412 single base substitution A G upstream_gene_variant PACA-CA 12 102514754 102514754 single base substitution C G upstream_gene_variant PACA-CA 12 102516287 102516287 single base substitution C T upstream_gene_variant PACA-CA 12 102518087 102518103 deletion of <=200bp TGTAACTATTATTATTG - upstream_gene_variant PAEN-AU 12 102471021 102471021 single base substitution C T downstream_gene_variant PAEN-AU 12 102471021 102471021 single base substitution C T exon_variant PAEN-AU 12 102471021 102471021 single base substitution C T intron_variant PAEN-AU 12 102471021 102471021 single base substitution C T upstream_gene_variant PAEN-AU 12 102507751 102507751 single base substitution T G downstream_gene_variant PAEN-AU 12 102507751 102507751 single base substitution T G intron_variant PAEN-IT 12 102471269 102471269 single base substitution C A 3_prime_UTR_variant PAEN-IT 12 102471269 102471269 single base substitution C A downstream_gene_variant PAEN-IT 12 102471269 102471269 single base substitution C A exon_variant PAEN-IT 12 102471269 102471269 single base substitution C A intron_variant PAEN-IT 12 102471269 102471269 single base substitution C A stop_gained E185* 553G>T PAEN-IT 12 102471269 102471269 single base substitution C A upstream_gene_variant PAEN-IT 12 102474845 102474845 single base substitution C A intron_variant PAEN-IT 12 102474845 102474845 single base substitution C A upstream_gene_variant PAEN-IT 12 102510735 102510735 single base substitution G A downstream_gene_variant PAEN-IT 12 102510735 102510735 single base substitution G A intron_variant PBCA-DE 12 102465474 102465476 deletion of <=200bp AAC - downstream_gene_variant PBCA-DE 12 102471981 102471981 single base substitution C T downstream_gene_variant PBCA-DE 12 102471981 102471981 single base substitution C T intron_variant PBCA-DE 12 102471981 102471981 single base substitution C T upstream_gene_variant PBCA-DE 12 102483741 102483742 deletion of <=200bp AC - intron_variant PBCA-DE 12 102483741 102483742 deletion of <=200bp AC - upstream_gene_variant PBCA-DE 12 102508035 102508035 single base substitution T C downstream_gene_variant PBCA-DE 12 102508035 102508035 single base substitution T C intron_variant PRAD-CA 12 102495662 102495662 single base substitution G A intron_variant PRAD-CA 12 102499451 102499451 single base substitution C A intron_variant PRAD-CA 12 102514222 102514222 single base substitution G A upstream_gene_variant PRAD-UK 12 102473998 102473998 single base substitution G A intron_variant PRAD-UK 12 102473998 102473998 single base substitution G A upstream_gene_variant PRAD-UK 12 102492785 102492796 deletion of <=200bp AGAATTTATGTA - intron_variant PRAD-UK 12 102495217 102495217 single base substitution A C intron_variant PRAD-UK 12 102500497 102500497 insertion of <=200bp - A intron_variant PRAD-UK 12 102500726 102500726 single base substitution A G intron_variant PRAD-UK 12 102516221 102516221 single base substitution C T upstream_gene_variant PRAD-US 12 102470594 102470594 single base substitution C G 3_prime_UTR_variant PRAD-US 12 102470594 102470594 single base substitution C G downstream_gene_variant PRAD-US 12 102470594 102470594 single base substitution C G exon_variant PRAD-US 12 102470594 102470594 single base substitution C G missense_variant D161H 481G>C PRAD-US 12 102470594 102470594 single base substitution C G missense_variant D252H 754G>C RECA-EU 12 102465185 102465185 single base substitution A G downstream_gene_variant RECA-EU 12 102480159 102480159 single base substitution G C intron_variant RECA-EU 12 102480159 102480159 single base substitution G C upstream_gene_variant RECA-EU 12 102480671 102480671 single base substitution G A intron_variant RECA-EU 12 102480671 102480671 single base substitution G A upstream_gene_variant RECA-EU 12 102480725 102480725 single base substitution A T intron_variant RECA-EU 12 102480725 102480725 single base substitution A T upstream_gene_variant RECA-EU 12 102492240 102492240 single base substitution A C intron_variant RECA-EU 12 102496245 102496245 single base substitution G A intron_variant RECA-EU 12 102509274 102509274 single base substitution G C downstream_gene_variant RECA-EU 12 102509274 102509274 single base substitution G C intron_variant RECA-EU 12 102514404 102514404 single base substitution T G upstream_gene_variant RECA-EU 12 102515792 102515792 single base substitution A T upstream_gene_variant SKCA-BR 12 102464910 102464910 single base substitution T A downstream_gene_variant SKCA-BR 12 102472104 102472104 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 12 102472104 102472104 insertion of <=200bp - TA intron_variant SKCA-BR 12 102472104 102472104 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 12 102477738 102477738 single base substitution G A intron_variant SKCA-BR 12 102479558 102479559 deletion of <=200bp CA - exon_variant SKCA-BR 12 102479558 102479559 deletion of <=200bp CA - frameshift_variant PE175 SKCA-BR 12 102479558 102479559 deletion of <=200bp CA - intron_variant SKCA-BR 12 102481733 102481733 single base substitution C T intron_variant SKCA-BR 12 102481733 102481733 single base substitution C T upstream_gene_variant SKCA-BR 12 102481734 102481734 single base substitution C T intron_variant SKCA-BR 12 102481734 102481734 single base substitution C T upstream_gene_variant SKCA-BR 12 102482475 102482475 single base substitution G T intron_variant SKCA-BR 12 102482475 102482475 single base substitution G T upstream_gene_variant SKCA-BR 12 102483273 102483273 single base substitution A G intron_variant SKCA-BR 12 102483273 102483273 single base substitution A G upstream_gene_variant SKCA-BR 12 102494440 102494440 single base substitution C T intron_variant SKCA-BR 12 102499213 102499213 single base substitution T G intron_variant SKCA-BR 12 102499245 102499245 single base substitution T G intron_variant SKCA-BR 12 102500681 102500681 single base substitution G A intron_variant SKCA-BR 12 102503640 102503640 single base substitution G T downstream_gene_variant SKCA-BR 12 102503640 102503640 single base substitution G T intron_variant SKCA-BR 12 102505415 102505415 single base substitution T G downstream_gene_variant SKCA-BR 12 102505415 102505415 single base substitution T G intron_variant SKCA-BR 12 102506044 102506044 single base substitution T C intron_variant SKCA-BR 12 102506802 102506802 single base substitution C T intron_variant SKCA-BR 12 102507812 102507812 single base substitution C T downstream_gene_variant SKCA-BR 12 102507812 102507812 single base substitution C T intron_variant SKCA-BR 12 102509451 102509451 single base substitution G A downstream_gene_variant SKCA-BR 12 102509451 102509451 single base substitution G A intron_variant SKCA-BR 12 102510401 102510401 single base substitution A G downstream_gene_variant SKCA-BR 12 102510401 102510401 single base substitution A G intron_variant SKCA-BR 12 102510927 102510927 single base substitution G A downstream_gene_variant SKCA-BR 12 102510927 102510927 single base substitution G A intron_variant SKCA-BR 12 102516307 102516307 single base substitution G A upstream_gene_variant SKCA-BR 12 102517804 102517804 single base substitution G A upstream_gene_variant SKCM-US 12 102468181 102468181 single base substitution C G 3_prime_UTR_variant SKCM-US 12 102468181 102468181 single base substitution C G downstream_gene_variant SKCM-US 12 102468181 102468181 single base substitution C G exon_variant SKCM-US 12 102468181 102468181 single base substitution C G missense_variant C311S 932G>C SKCM-US 12 102471194 102471194 single base substitution G A 3_prime_UTR_variant SKCM-US 12 102471194 102471194 single base substitution G A downstream_gene_variant SKCM-US 12 102471194 102471194 single base substitution G A exon_variant SKCM-US 12 102471194 102471194 single base substitution G A intron_variant SKCM-US 12 102471194 102471194 single base substitution G A missense_variant P210S 628C>T SKCM-US 12 102471194 102471194 single base substitution G A upstream_gene_variant SKCM-US 12 102512168 102512168 single base substitution A G exon_variant SKCM-US 12 102512168 102512168 single base substitution A G synonymous_variant Y43Y 129T>C SKCM-US 12 102512251 102512251 single base substitution C G exon_variant SKCM-US 12 102512251 102512251 single base substitution C G missense_variant E16Q 46G>C STAD-US 12 102471233 102471233 single base substitution C G 3_prime_UTR_variant STAD-US 12 102471233 102471233 single base substitution C G downstream_gene_variant STAD-US 12 102471233 102471233 single base substitution C G exon_variant STAD-US 12 102471233 102471233 single base substitution C G intron_variant STAD-US 12 102471233 102471233 single base substitution C G missense_variant A197P 589G>C STAD-US 12 102471233 102471233 single base substitution C G upstream_gene_variant STAD-US 12 102512287 102512287 single base substitution C T exon_variant STAD-US 12 102512287 102512287 single base substitution C T missense_variant D4N 10G>A THCA-SA 12 102517728 102517728 single base substitution G A upstream_gene_variant UCEC-US 12 102468146 102468146 deletion of <=200bp C - 3_prime_UTR_variant UCEC-US 12 102468146 102468146 deletion of <=200bp C - downstream_gene_variant UCEC-US 12 102468146 102468146 deletion of <=200bp C - exon_variant UCEC-US 12 102468146 102468146 deletion of <=200bp C - frameshift_variant V323 UCEC-US 12 102468795 102468795 single base substitution T C 3_prime_UTR_variant UCEC-US 12 102468795 102468795 single base substitution T C downstream_gene_variant UCEC-US 12 102468795 102468795 single base substitution T C exon_variant UCEC-US 12 102468795 102468795 single base substitution T C missense_variant H193R 578A>G UCEC-US 12 102468795 102468795 single base substitution T C missense_variant H284R 851A>G UCEC-US 12 102471111 102471111 single base substitution A G 3_prime_UTR_variant UCEC-US 12 102471111 102471111 single base substitution A G downstream_gene_variant UCEC-US 12 102471111 102471111 single base substitution A G exon_variant UCEC-US 12 102471111 102471111 single base substitution A G intron_variant UCEC-US 12 102471111 102471111 single base substitution A G synonymous_variant I237I 711T>C UCEC-US 12 102471111 102471111 single base substitution A G upstream_gene_variant UCEC-US 12 102492925 102492925 single base substitution T G exon_variant UCEC-US 12 102492925 102492925 single base substitution T G missense_variant E136D 408A>C UCEC-US 12 102505968 102505968 single base substitution G A exon_variant UCEC-US 12 102505968 102505968 single base substitution G A stop_gained R67* 199C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand LUAD-NYU847 COSM376610 c.789T>A p.S263R Substitution - Missense 12:102075079-102075079 - Pat_07_A COSM5839924 c.730C>G p.Q244E Substitution - Missense 12:102076840-102076840 - TCGA-66-2787-01 COSM691599 c.841C>A p.Q281K Substitution - Missense 12:102075027-102075027 - TCGA-D1-A17U-01 COSM934084 c.682G>A p.A228T Substitution - Missense 12:102077362-102077362 - TCGA-AA-A010-01 COSM283442 c.499C>T p.P167S Substitution - Missense 12:102085807-102085807 - CSCC-7-T COSM4512805 c.916C>T p.R306* Substitution - Nonsense 12:102074419-102074419 - TC71 COSM2063750 c.401C>A p.P134H Substitution - Missense 12:102099154-102099154 - TCGA-DI-A0WH-01 COSM934083 c.711T>C p.I237I Substitution - coding silent 12:102077333-102077333 - TCGA-ER-A19J-06 COSM3455172 c.46G>C p.E16Q Substitution - Missense 12:102118473-102118473 - TCGA-56-6545-01 COSM691598 c.650G>T p.C217F Substitution - Missense 12:102077394-102077394 - TCGA-G9-7521-01 COSM1470514 c.754G>C p.D252H Substitution - Missense 12:102076816-102076816 - LC_S35 COSM1188583 c.67G>A p.E23K Substitution - Missense 12:102118452-102118452 - YUBAN COSM1706133 c.592C>T p.Q198* Substitution - Nonsense 12:102077452-102077452 - T3535 COSM4708778 c.675A>G p.G225G Substitution - coding silent 12:102077369-102077369 - TCGA-CD-5801-01 COSM4038063 c.10G>A p.D4N Substitution - Missense 12:102118509-102118509 - CHC892T COSM4796719 c.811G>A p.G271S Substitution - Missense 12:102075057-102075057 - HCC163T COSM3703811 c.640G>A p.A214T Substitution - Missense 12:102077404-102077404 - ccRCC-76 COSM1663183 c.431G>T p.S144I Substitution - Missense 12:102099124-102099124 - TCGA-46-3768-01 COSM691596 c.430A>T p.S144C Substitution - Missense 12:102099125-102099125 - TCGA-D3-A1Q3-06 COSM3455171 c.129T>C p.Y43Y Substitution - coding silent 12:102118390-102118390 - TCGA-AP-A056-01 COSM934086 c.199C>T p.R67* Substitution - Nonsense 12:102112190-102112190 - S00501 COSM313426 c.659delA p.N220fs*14 Deletion - Frameshift 12:102077385-102077385 - TCGA-FW-A3R5-06 COSM3870555 c.628C>T p.P210S Substitution - Missense 12:102077416-102077416 - 587342 COSM1218109 c.654A>T p.L218F Substitution - Missense 12:102077390-102077390 - CSCC-31-T COSM4492687 c.401C>T p.P134L Substitution - Missense 12:102099154-102099154 - TCGA-BR-4357-01 COSM4038062 c.589G>C p.A197P Substitution - Missense 12:102077455-102077455 - CHC892T COSM4796719 c.811G>A p.G271S Substitution - Missense 12:102075057-102075057 - 1517_CLM COSM5753839 c.787A>G p.S263G Substitution - Missense 12:102075081-102075081 - ESCC_BICR_062T COSM5444402 c.40G>T p.D14Y Substitution - Missense 12:102118479-102118479 - TCGA-JW-A5VL-01 COSM4847822 c.184C>G p.Q62E Substitution - Missense 12:102112205-102112205 - BD236T COSM5519173 c.47A>G p.E16G Substitution - Missense 12:102118472-102118472 - PET052T COSM5824775 c.553G>T p.E185* Substitution - Nonsense 12:102077491-102077491 - PCSI_0466_Pa_P_526 COSM4962006 c.774-1G>C p.? Unknown 12:102075095-102075095 - HCC163 COSM3703811 c.640G>A p.A214T Substitution - Missense 12:102077404-102077404 - TCGA-46-3765-01 COSM691595 c.200G>T p.R67L Substitution - Missense 12:102112189-102112189 - TCGA-D1-A174-01 COSM934085 c.408A>C p.E136D Substitution - Missense 12:102099147-102099147 - TCGA-D1-A17U-01 COSM934081 c.967delG p.V323fs*1 Deletion - Frameshift 12:102074368-102074368 - TCGA-DB-5275-01 COSM3967924 c.626T>G p.V209G Substitution - Missense 12:102077418-102077418 - GC_312T-GC_312N COSM4773698 c.759A>C p.R253R Substitution - coding silent 12:102076811-102076811 - TCGA-66-2793-01 COSM691600 c.935T>C p.V312A Substitution - Missense 12:102074400-102074400 - TCGA-D9-A148-06 COSM3455170 c.932G>C p.C311S Substitution - Missense 12:102074403-102074403 - T207 COSM4708779 c.641C>T p.A214V Substitution - Missense 12:102077403-102077403 - LC_C6 COSM1188582 c.745G>T p.V249F Substitution - Missense 12:102076825-102076825 - RKO COSM2063735 c.885T>C p.S295S Substitution - coding silent 12:102074450-102074450 - TCGA-B5-A11E-01 COSM934082 c.851A>G p.H284R Substitution - Missense 12:102075017-102075017 - ESCC_BICR_019T COSM5431521 c.928C>T p.L310L Substitution - coding silent 12:102074407-102074407 - CSCC-40-T COSM4450312 c.540+1G>A p.? Unknown 12:102085765-102085765 - sysucc-1317T COSM5448357 c.172G>A p.V58I Substitution - Missense 12:102112217-102112217 - TCGA-66-2770-01 COSM691597 c.588G>T p.L196F Substitution - Missense 12:102077456-102077456 - CSCC-31-T COSM4573189 c.354+2_354+3TA>AT p.? Unknown 12:102101029-102101030 - 255 COSM3732381 c.969G>T p.V323V Substitution - coding silent 12:102074366-102074366 - TCGA-13-1494-01 COSM71907 c.124A>G p.N42D Substitution - Missense 12:102118395-102118395 - S00501 COSM313426 c.659delA p.N220fs*14 Deletion - Frameshift 12:102077385-102077385 - ZZUFHECRKL-G011T COSM5445226 c.143C>T p.T48M Substitution - Missense 12:102118376-102118376 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.444249;Hs.444260;Hs.444267;Hs.444276 12q23.2 609264

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.V209G c.626T>G 12 102471196 LGG A G Missense p.V312A c.935T>C 12 102468178 LUSC A G Synonymous p.I237I c.711T>C 12 102471111 UCEC A G Synonymous p.N187N c.561T>C 12 102471261 HNSC A G Synonymous p.Y43Y c.129T>C 12 102512168 CM C A Missense p.C217F c.650G>T 12 102471172 LUSC C A Missense p.L196F c.588G>T 12 102471234 LUSC C A Missense p.R67L c.200G>T 12 102505967 LUSC C A Nonsense p.E28* c.82G>T 12 102512215 LUAD C A Synonymous p.T50T c.150G>T 12 102512147 LUAD C - Frameshift p.E207Nfs*5 c.619delG 12 102471203 RCCC C - Frameshift p.V323*fs*1 c.967delG 12 102468146 UCEC C G Missense p.A197P c.589G>C 12 102471233 STAD C G Missense p.C311S c.932G>C 12 102468181 CM C G Missense p.D252H c.754G>C 12 102470594 PRAD C G Missense p.E16Q c.46G>C 12 102512251 CM C G Missense p.E28Q c.82G>C 12 102512215 BRCA C T Missense p.D4N c.10G>A 12 102512287 STAD G A Missense p.R191W c.571C>T 12 102471251 HNSC G A Synonymous p.D145D c.435C>T 12 102492898 HNSC G T Missense p.Q281K c.841C>A 12 102468805 LUSC T A Missense p.S144C c.430A>T 12 102492903 LUSC T C IntronicSNV . c.1-672A>G 12 102512968 HC T C Missense p.N42D c.124A>G 12 102512173 OV TCTTCTTCC - SpliceAcceptorDeletion . c.157-1_164delGGAAGAAGA 12 102506003 RCCC T - Frameshift p.N220Tfs*14 c.659delA 12 102471163 SCLC T G Missense p.E136D c.408A>C 12 102492925 UCEC