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 20 54961553 54961553 + Missense_Mutation SNP C C T TCGA-OR-A5JA-01A-11D-A29I-10 TCGA-OR-A5JA-10A-01D-A29L-10 g.chr20:54961553C>T c.79G>A c.(79-81)Gtg>Atg p.V27M BLCA 20 54945601 54945601 + IGR SNP T T G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 g.chr20:54945601T>G BLCA 20 54948568 54948568 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 g.chr20:54948568C>G c.750G>C c.(748-750)aaG>aaC p.K250N BLCA 20 54958042 54958042 + Splice_Site SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr20:54958042G>A c.565C>T c.(565-567)Cgg>Tgg p.R189W BRCA 20 54961339 54961339 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr20:54961339C>T c.293G>A c.(292-294)aGc>aAc p.S98N BRCA 20 54961366 54961366 + Missense_Mutation SNP G G C TCGA-AC-A5XS-01A-11D-A29N-09 TCGA-AC-A5XS-11A-13D-A29N-09 g.chr20:54961366G>C c.266C>G c.(265-267)tCc>tGc p.S89C BRCA 20 54961390 54961390 + Missense_Mutation SNP G G A TCGA-AR-A0U2-01A-11D-A10G-09 TCGA-AR-A0U2-10A-01D-A10G-09 g.chr20:54961390G>A c.242C>T c.(241-243)gCa>gTa p.A81V BRCA 20 54961556 54961556 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 g.chr20:54961556G>C c.76C>G c.(76-78)Ctc>Gtc p.L26V BRCA 20 54963243 54963243 + Missense_Mutation SNP G G T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr20:54963243G>T c.11C>A c.(10-12)tCt>tAt p.S4Y CESC 20 54945266 54945266 + IGR SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr20:54945266G>A CESC 20 54945266 54945266 + IGR SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 g.chr20:54945266G>A CHOL 20 54963211 54963211 + Splice_Site SNP C C G TCGA-ZU-A8S4-01A-11D-A417-09 TCGA-ZU-A8S4-10A-01D-A41A-09 g.chr20:54963211C>G c.e2+1 COAD 20 54945233 54945233 + IGR SNP G G T TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chr20:54945233G>T COAD 20 54945343 54945343 + IGR SNP T T C TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chr20:54945343T>C COAD 20 54948501 54948501 + Missense_Mutation SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr20:54948501C>T c.817G>A c.(817-819)Gca>Aca p.A273T COAD 20 54948524 54948524 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr20:54948524C>T c.794G>A c.(793-795)gGa>gAa p.G265E COAD 20 54948525 54948525 + Missense_Mutation SNP C C T TCGA-AZ-6605-01A-11D-1835-10 TCGA-AZ-6605-11A-01D-1835-10 g.chr20:54948525C>T c.793G>A c.(793-795)Gga>Aga p.G265R COAD 20 54948525 54948525 + Nonsense_Mutation SNP C C A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr20:54948525C>A c.793G>T c.(793-795)Gga>Tga p.G265* COAD 20 54948571 54948571 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr20:54948571C>T c.747G>A c.(745-747)tcG>tcA p.S249S COAD 20 54958085 54958085 + Silent SNP C C A TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr20:54958085C>A c.522G>T c.(520-522)gtG>gtT p.V174V COAD 20 54958085 54958085 + Silent SNP C C T TCGA-D5-5538-01A-01D-1650-10 TCGA-D5-5538-10A-02D-1650-10 g.chr20:54958085C>T c.522G>A c.(520-522)gtG>gtA p.V174V COAD 20 54958143 54958143 + Missense_Mutation SNP C C T TCGA-CM-6677-01A-11D-1835-10 TCGA-CM-6677-10A-01D-1835-10 g.chr20:54958143C>T c.464G>A c.(463-465)aGc>aAc p.S155N COAD 20 54958144 54958144 + Missense_Mutation SNP T T C TCGA-AZ-6608-01A-11D-1835-10 TCGA-AZ-6608-11A-01D-1835-10 g.chr20:54958144T>C c.463A>G c.(463-465)Agc>Ggc p.S155G COAD 20 54958144 54958144 + Missense_Mutation SNP T T C TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr20:54958144T>C c.463A>G c.(463-465)Agc>Ggc p.S155G COAD 20 54961464 54961464 + Silent SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr20:54961464G>A c.168C>T c.(166-168)cgC>cgT p.R56R COADREAD 20 54945233 54945233 + IGR SNP G G T TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chr20:54945233G>T COADREAD 20 54945343 54945343 + IGR SNP T T C TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chr20:54945343T>C COADREAD 20 54948501 54948501 + Missense_Mutation SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr20:54948501C>T c.817G>A c.(817-819)Gca>Aca p.A273T COADREAD 20 54948524 54948524 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr20:54948524C>T c.794G>A c.(793-795)gGa>gAa p.G265E COADREAD 20 54948525 54948525 + Missense_Mutation SNP C C T TCGA-AZ-6605-01A-11D-1835-10 TCGA-AZ-6605-11A-01D-1835-10 g.chr20:54948525C>T c.793G>A c.(793-795)Gga>Aga p.G265R COADREAD 20 54948525 54948525 + Nonsense_Mutation SNP C C A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr20:54948525C>A c.793G>T c.(793-795)Gga>Tga p.G265* COADREAD 20 54948571 54948571 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr20:54948571C>T c.747G>A c.(745-747)tcG>tcA p.S249S COADREAD 20 54958085 54958085 + Silent SNP C C A TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr20:54958085C>A c.522G>T c.(520-522)gtG>gtT p.V174V COADREAD 20 54958085 54958085 + Silent SNP C C T TCGA-D5-5538-01A-01D-1650-10 TCGA-D5-5538-10A-02D-1650-10 g.chr20:54958085C>T c.522G>A c.(520-522)gtG>gtA p.V174V COADREAD 20 54958085 54958085 + Silent SNP C C T TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr20:54958085C>T c.522G>A c.(520-522)gtG>gtA p.V174V COADREAD 20 54958143 54958143 + Missense_Mutation SNP C C T TCGA-CM-6677-01A-11D-1835-10 TCGA-CM-6677-10A-01D-1835-10 g.chr20:54958143C>T c.464G>A c.(463-465)aGc>aAc p.S155N COADREAD 20 54958144 54958144 + Missense_Mutation SNP T T C TCGA-AZ-6608-01A-11D-1835-10 TCGA-AZ-6608-11A-01D-1835-10 g.chr20:54958144T>C c.463A>G c.(463-465)Agc>Ggc p.S155G COADREAD 20 54958144 54958144 + Missense_Mutation SNP T T C TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr20:54958144T>C c.463A>G c.(463-465)Agc>Ggc p.S155G COADREAD 20 54961464 54961464 + Silent SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr20:54961464G>A c.168C>T c.(166-168)cgC>cgT p.R56R DLBC 20 54945628 54945628 + IGR SNP G G C TCGA-FM-8000-01A-11D-2210-10 TCGA-FM-8000-10A-01D-2210-10 g.chr20:54945628G>C ESCA 20 54959346 54959346 + Silent SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 g.chr20:54959346C>T c.354G>A c.(352-354)caG>caA p.Q118Q ESCA 20 54961428 54961428 + Missense_Mutation SNP G G C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 g.chr20:54961428G>C c.204C>G c.(202-204)caC>caG p.H68Q GBM 20 54963223 54963223 + Missense_Mutation SNP C C T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 g.chr20:54963223C>T c.31G>A c.(31-33)Gga>Aga p.G11R GBMLGG 20 54945296 54945296 + IGR SNP A A T TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 g.chr20:54945296A>T GBMLGG 20 54956513 54956513 + Missense_Mutation SNP C C A TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 g.chr20:54956513C>A c.681G>T c.(679-681)aaG>aaT p.K227N GBMLGG 20 54961320 54961320 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr20:54961320C>T c.312G>A c.(310-312)tcG>tcA p.S104S GBMLGG 20 54963223 54963223 + Missense_Mutation SNP C C T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 g.chr20:54963223C>T c.31G>A c.(31-33)Gga>Aga p.G11R HNSC 20 54961341 54961341 + Missense_Mutation SNP C C A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 g.chr20:54961341C>A c.291G>T c.(289-291)aaG>aaT p.K97N KIPAN 20 54963211 54963211 + Splice_Site SNP C C G TCGA-F9-A7Q0-01A-11D-A35Z-10 TCGA-F9-A7Q0-10B-01D-A35Z-10 g.chr20:54963211C>G c.e2+1 KIRP 20 54963211 54963211 + Splice_Site SNP C C G TCGA-F9-A7Q0-01A-11D-A35Z-10 TCGA-F9-A7Q0-10B-01D-A35Z-10 g.chr20:54963211C>G c.e2+1 LGG 20 54945296 54945296 + IGR SNP A A T TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 g.chr20:54945296A>T LGG 20 54956513 54956513 + Missense_Mutation SNP C C A TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 g.chr20:54956513C>A c.681G>T c.(679-681)aaG>aaT p.K227N LGG 20 54961320 54961320 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr20:54961320C>T c.312G>A c.(310-312)tcG>tcA p.S104S LIHC 20 54961384 54961384 + Missense_Mutation SNP C C T TCGA-ED-A7XP-01A-11D-A34Z-10 TCGA-ED-A7XP-10A-01D-A34Z-10 g.chr20:54961384C>T c.248G>A c.(247-249)aGt>aAt p.S83N LIHC 20 54961584 54961584 + Silent SNP T T A TCGA-ED-A459-01A-11D-A25V-10 TCGA-ED-A459-10A-01D-A25V-10 g.chr20:54961584T>A c.48A>T c.(46-48)acA>acT p.T16T LUAD 20 54948488 54948488 + Missense_Mutation SNP C C A TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr20:54948488C>A c.830G>T c.(829-831)tGg>tTg p.W277L LUSC 20 54963223 54963223 + Nonsense_Mutation SNP C C A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 g.chr20:54963223C>A c.31G>T c.(31-33)Gga>Tga p.G11* OV 20 54948523 54948523 + Silent SNP T T C TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 g.chr20:54948523T>C c.795A>G c.(793-795)ggA>ggG p.G265G PAAD 20 54945248 54945248 + IGR SNP C C G TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 g.chr20:54945248C>G PAAD 20 54945360 54945360 + IGR SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr20:54945360C>T READ 20 54958085 54958085 + Silent SNP C C T TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr20:54958085C>T c.522G>A c.(520-522)gtG>gtA p.V174V SKCM 20 54956548 54956548 + Missense_Mutation SNP C C T TCGA-D3-A2JP-06A-11D-A19A-08 TCGA-D3-A2JP-10A-01D-A19A-08 g.chr20:54956548C>T c.646G>A c.(646-648)Gga>Aga p.G216R SKCM 20 54961500 54961500 + Silent SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr20:54961500A>C c.132T>G c.(130-132)gcT>gcG p.A44A SKCM 20 54961538 54961538 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr20:54961538G>A c.94C>T c.(94-96)Cct>Tct p.P32S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 20 54956570 54956570 single base substitution T C downstream_gene_variant BLCA-CN 20 54956570 54956570 single base substitution T C synonymous_variant L208L 624A>G BLCA-US 20 54945601 54945601 single base substitution T G downstream_gene_variant BLCA-US 20 54945601 54945601 single base substitution T G missense_variant L323F 969A>C BRCA-EU 20 54942725 54942725 single base substitution G C downstream_gene_variant BRCA-EU 20 54942828 54942828 single base substitution G C downstream_gene_variant BRCA-EU 20 54944601 54944601 single base substitution T G 3_prime_UTR_variant BRCA-EU 20 54944601 54944601 single base substitution T G downstream_gene_variant BRCA-EU 20 54944919 54944919 single base substitution G A 3_prime_UTR_variant BRCA-EU 20 54944919 54944919 single base substitution G A downstream_gene_variant BRCA-EU 20 54945344 54945344 single base substitution G C 3_prime_UTR_variant BRCA-EU 20 54945344 54945344 single base substitution G C downstream_gene_variant BRCA-EU 20 54945344 54945344 single base substitution G C stop_gained S361* 1082C>G BRCA-EU 20 54945588 54945588 single base substitution G A downstream_gene_variant BRCA-EU 20 54945588 54945588 single base substitution G A missense_variant P328S 982C>T BRCA-EU 20 54945656 54945656 single base substitution A C downstream_gene_variant BRCA-EU 20 54945656 54945656 single base substitution A C missense_variant M305R 914T>G BRCA-EU 20 54946531 54946531 single base substitution A T downstream_gene_variant BRCA-EU 20 54946531 54946531 single base substitution A T intron_variant BRCA-EU 20 54947039 54947039 single base substitution C T downstream_gene_variant BRCA-EU 20 54947039 54947039 single base substitution C T intron_variant BRCA-EU 20 54947294 54947294 single base substitution G A downstream_gene_variant BRCA-EU 20 54947294 54947294 single base substitution G A intron_variant BRCA-EU 20 54947503 54947503 single base substitution G C downstream_gene_variant BRCA-EU 20 54947503 54947503 single base substitution G C intron_variant BRCA-EU 20 54947708 54947708 deletion of <=200bp T - downstream_gene_variant BRCA-EU 20 54947708 54947708 deletion of <=200bp T - intron_variant BRCA-EU 20 54948950 54948950 single base substitution G A intron_variant BRCA-EU 20 54949652 54949652 single base substitution T C intron_variant BRCA-EU 20 54950973 54950973 single base substitution G A intron_variant BRCA-EU 20 54953850 54953850 single base substitution C T downstream_gene_variant BRCA-EU 20 54953850 54953850 single base substitution C T intron_variant BRCA-EU 20 54953933 54953933 single base substitution G C downstream_gene_variant BRCA-EU 20 54953933 54953933 single base substitution G C intron_variant BRCA-EU 20 54955807 54955807 single base substitution G A downstream_gene_variant BRCA-EU 20 54955807 54955807 single base substitution G A intron_variant BRCA-EU 20 54957769 54957769 single base substitution T G downstream_gene_variant BRCA-EU 20 54957769 54957769 single base substitution T G intron_variant BRCA-EU 20 54958173 54958173 single base substitution C A downstream_gene_variant BRCA-EU 20 54958173 54958173 single base substitution C A missense_variant G145V 434G>T BRCA-EU 20 54959326 54959326 deletion of <=200bp T - downstream_gene_variant BRCA-EU 20 54959326 54959326 deletion of <=200bp T - frameshift_variant K125 BRCA-EU 20 54959518 54959518 single base substitution A T downstream_gene_variant BRCA-EU 20 54959518 54959518 single base substitution A T intron_variant BRCA-EU 20 54960567 54960567 single base substitution G C downstream_gene_variant BRCA-EU 20 54960567 54960567 single base substitution G C intron_variant BRCA-EU 20 54960808 54960808 single base substitution C T downstream_gene_variant BRCA-EU 20 54960808 54960808 single base substitution C T intron_variant BRCA-EU 20 54961256 54961256 deletion of <=200bp T - downstream_gene_variant BRCA-EU 20 54961256 54961256 deletion of <=200bp T - intron_variant BRCA-EU 20 54962108 54962108 single base substitution A T intron_variant BRCA-EU 20 54962584 54962584 single base substitution C T intron_variant BRCA-EU 20 54963007 54963007 single base substitution C A intron_variant BRCA-EU 20 54963577 54963577 single base substitution T G intron_variant BRCA-EU 20 54965169 54965169 single base substitution G T intron_variant BRCA-EU 20 54965397 54965397 single base substitution T C intron_variant BRCA-EU 20 54965480 54965480 single base substitution C T intron_variant BRCA-EU 20 54965645 54965645 single base substitution G A 5_prime_UTR_variant BRCA-EU 20 54965645 54965645 single base substitution G A intron_variant BRCA-EU 20 54966111 54966111 single base substitution C T intron_variant BRCA-EU 20 54966398 54966398 single base substitution A G intron_variant BRCA-EU 20 54967109 54967109 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 20 54967109 54967109 single base substitution G C intron_variant BRCA-EU 20 54967405 54967405 single base substitution C G upstream_gene_variant BRCA-EU 20 54967996 54967996 single base substitution G C upstream_gene_variant BRCA-EU 20 54968434 54968434 single base substitution A G upstream_gene_variant BRCA-EU 20 54968475 54968475 single base substitution G C upstream_gene_variant BRCA-EU 20 54968527 54968527 single base substitution T G upstream_gene_variant BRCA-EU 20 54971510 54971510 single base substitution G C upstream_gene_variant BRCA-FR 20 54945588 54945588 single base substitution G A downstream_gene_variant BRCA-FR 20 54945588 54945588 single base substitution G A missense_variant P328S 982C>T BRCA-FR 20 54959045 54959045 single base substitution T A downstream_gene_variant BRCA-FR 20 54959045 54959045 single base substitution T A intron_variant BRCA-FR 20 54962108 54962108 single base substitution A T intron_variant BRCA-FR 20 54963007 54963007 single base substitution C A intron_variant BRCA-FR 20 54968681 54968681 single base substitution G T upstream_gene_variant BRCA-UK 20 54940890 54940890 single base substitution G A downstream_gene_variant BRCA-UK 20 54942382 54942382 single base substitution G C downstream_gene_variant BRCA-UK 20 54944919 54944919 single base substitution G A 3_prime_UTR_variant BRCA-UK 20 54944919 54944919 single base substitution G A downstream_gene_variant BRCA-UK 20 54961767 54961767 single base substitution G A intron_variant BRCA-US 20 54940298 54940298 single base substitution A G downstream_gene_variant BRCA-US 20 54941255 54941255 single base substitution G C downstream_gene_variant BRCA-US 20 54941259 54941259 single base substitution C T downstream_gene_variant BRCA-US 20 54961339 54961339 single base substitution C T downstream_gene_variant BRCA-US 20 54961339 54961339 single base substitution C T missense_variant S98N 293G>A BRCA-US 20 54961366 54961366 single base substitution G C downstream_gene_variant BRCA-US 20 54961366 54961366 single base substitution G C missense_variant S89C 266C>G BRCA-US 20 54961390 54961390 single base substitution G A downstream_gene_variant BRCA-US 20 54961390 54961390 single base substitution G A missense_variant A81V 242C>T BRCA-US 20 54963243 54963243 single base substitution G T missense_variant S4Y 11C>A BTCA-JP 20 54958178 54958182 deletion of <=200bp CTTTC - downstream_gene_variant BTCA-JP 20 54958178 54958182 deletion of <=200bp CTTTC - frameshift_variant GK142 CESC-US 20 54941154 54941154 single base substitution G A downstream_gene_variant CESC-US 20 54945266 54945266 single base substitution G A 3_prime_UTR_variant CESC-US 20 54945266 54945266 single base substitution G A downstream_gene_variant CESC-US 20 54945266 54945266 single base substitution G A missense_variant S387L 1160C>T CESC-US 20 54963252 54963252 single base substitution A C start_lost M1R 2T>G CLLE-ES 20 54949418 54949418 single base substitution A G intron_variant CLLE-ES 20 54954158 54954158 single base substitution G A downstream_gene_variant CLLE-ES 20 54954158 54954158 single base substitution G A intron_variant CLLE-ES 20 54964912 54964912 single base substitution T C intron_variant COAD-US 20 54940256 54940256 single base substitution C T downstream_gene_variant COAD-US 20 54948571 54948571 single base substitution C T synonymous_variant S249S 747G>A COAD-US 20 54970639 54970639 single base substitution C T upstream_gene_variant COCA-CN 20 54945413 54945413 single base substitution G T 3_prime_UTR_variant COCA-CN 20 54945413 54945413 single base substitution G T downstream_gene_variant COCA-CN 20 54945413 54945413 single base substitution G T intron_variant COCA-CN 20 54945551 54945551 single base substitution C A downstream_gene_variant COCA-CN 20 54945551 54945551 single base substitution C A missense_variant R340I 1019G>T COCA-CN 20 54948459 54948459 single base substitution C G downstream_gene_variant COCA-CN 20 54948459 54948459 single base substitution C G splice_region_variant ESAD-UK 20 54942345 54942345 single base substitution G C downstream_gene_variant ESAD-UK 20 54944590 54944590 single base substitution T G 3_prime_UTR_variant ESAD-UK 20 54944590 54944590 single base substitution T G downstream_gene_variant ESAD-UK 20 54945529 54945529 single base substitution G C downstream_gene_variant ESAD-UK 20 54945529 54945529 single base substitution G C intron_variant ESAD-UK 20 54945529 54945529 single base substitution G C missense_variant N347K 1041C>G ESAD-UK 20 54947743 54947743 single base substitution G C downstream_gene_variant ESAD-UK 20 54947743 54947743 single base substitution G C intron_variant ESAD-UK 20 54950506 54950506 single base substitution T C intron_variant ESAD-UK 20 54951920 54951920 single base substitution G A intron_variant ESAD-UK 20 54952141 54952141 insertion of <=200bp - A intron_variant ESAD-UK 20 54953873 54953873 single base substitution A T downstream_gene_variant ESAD-UK 20 54953873 54953873 single base substitution A T intron_variant ESAD-UK 20 54954087 54954087 single base substitution A G downstream_gene_variant ESAD-UK 20 54954087 54954087 single base substitution A G intron_variant ESAD-UK 20 54954091 54954091 single base substitution A C downstream_gene_variant ESAD-UK 20 54954091 54954091 single base substitution A C intron_variant ESAD-UK 20 54954212 54954212 single base substitution G A downstream_gene_variant ESAD-UK 20 54954212 54954212 single base substitution G A intron_variant ESAD-UK 20 54957230 54957230 single base substitution A G downstream_gene_variant ESAD-UK 20 54957230 54957230 single base substitution A G intron_variant ESAD-UK 20 54958091 54958091 single base substitution G A downstream_gene_variant ESAD-UK 20 54958091 54958091 single base substitution G A synonymous_variant A172A 516C>T ESAD-UK 20 54958860 54958860 single base substitution G T downstream_gene_variant ESAD-UK 20 54958860 54958860 single base substitution G T intron_variant ESAD-UK 20 54960110 54960110 single base substitution T C downstream_gene_variant ESAD-UK 20 54960110 54960110 single base substitution T C intron_variant ESAD-UK 20 54960675 54960675 single base substitution G A downstream_gene_variant ESAD-UK 20 54960675 54960675 single base substitution G A intron_variant ESAD-UK 20 54960709 54960709 single base substitution G A downstream_gene_variant ESAD-UK 20 54960709 54960709 single base substitution G A intron_variant ESAD-UK 20 54962571 54962571 single base substitution C G intron_variant ESAD-UK 20 54963364 54963364 single base substitution A T intron_variant ESAD-UK 20 54963364 54963364 single base substitution A T splice_region_variant ESAD-UK 20 54964190 54964190 single base substitution T G intron_variant ESAD-UK 20 54964939 54964939 single base substitution A T intron_variant ESAD-UK 20 54965865 54965865 single base substitution A T intron_variant ESAD-UK 20 54966150 54966150 single base substitution G A intron_variant ESAD-UK 20 54968956 54968956 single base substitution A C upstream_gene_variant ESAD-UK 20 54970681 54970681 single base substitution G A upstream_gene_variant ESCA-CN 20 54945272 54945272 single base substitution G T 3_prime_UTR_variant ESCA-CN 20 54945272 54945272 single base substitution G T downstream_gene_variant ESCA-CN 20 54945272 54945272 single base substitution G T missense_variant A385E 1154C>A KIRC-US 20 54941313 54941313 insertion of <=200bp - T downstream_gene_variant LAML-KR 20 54943399 54943399 single base substitution G A downstream_gene_variant LAML-KR 20 54956707 54956707 single base substitution A G downstream_gene_variant LAML-KR 20 54956707 54956707 single base substitution A G intron_variant LAML-KR 20 54968189 54968189 single base substitution C T upstream_gene_variant LGG-US 20 54941327 54941327 single base substitution C T downstream_gene_variant LGG-US 20 54956513 54956513 single base substitution C A downstream_gene_variant LGG-US 20 54956513 54956513 single base substitution C A missense_variant K227N 681G>T LICA-FR 20 54945331 54945333 deletion of <=200bp CTT - 3_prime_UTR_variant LICA-FR 20 54945331 54945333 deletion of <=200bp CTT - downstream_gene_variant LICA-FR 20 54945331 54945333 deletion of <=200bp CTT - inframe_deletion K365 LICA-FR 20 54946510 54946510 single base substitution C T downstream_gene_variant LICA-FR 20 54946510 54946510 single base substitution C T intron_variant LICA-FR 20 54947590 54947591 deletion of <=200bp AA - downstream_gene_variant LICA-FR 20 54947590 54947591 deletion of <=200bp AA - intron_variant LICA-FR 20 54949046 54949046 single base substitution A G intron_variant LICA-FR 20 54968189 54968189 single base substitution C T upstream_gene_variant LIHC-US 20 54958068 54958068 single base substitution C T downstream_gene_variant LIHC-US 20 54958068 54958068 single base substitution C T missense_variant R180K 539G>A LIHC-US 20 54961384 54961384 single base substitution C T downstream_gene_variant LIHC-US 20 54961384 54961384 single base substitution C T missense_variant S83N 248G>A LIHC-US 20 54961584 54961584 single base substitution T A synonymous_variant T16T 48A>T LINC-JP 20 54959280 54959280 insertion of <=200bp - A downstream_gene_variant LINC-JP 20 54959280 54959280 insertion of <=200bp - A intron_variant LINC-JP 20 54963087 54963087 single base substitution C A intron_variant LINC-JP 20 54965948 54965948 single base substitution A G intron_variant LINC-JP 20 54971573 54971573 single base substitution A T upstream_gene_variant LIRI-JP 20 54946957 54946957 single base substitution T A downstream_gene_variant LIRI-JP 20 54946957 54946957 single base substitution T A intron_variant LIRI-JP 20 54946973 54946973 single base substitution G A downstream_gene_variant LIRI-JP 20 54946973 54946973 single base substitution G A intron_variant LIRI-JP 20 54947969 54947969 single base substitution G A downstream_gene_variant LIRI-JP 20 54947969 54947969 single base substitution G A intron_variant LIRI-JP 20 54948284 54948284 single base substitution A G downstream_gene_variant LIRI-JP 20 54948284 54948284 single base substitution A G intron_variant LIRI-JP 20 54949958 54949958 single base substitution G T intron_variant LIRI-JP 20 54950015 54950015 single base substitution A G intron_variant LIRI-JP 20 54958959 54958959 single base substitution T C downstream_gene_variant LIRI-JP 20 54958959 54958959 single base substitution T C intron_variant LIRI-JP 20 54962108 54962108 single base substitution A G intron_variant LIRI-JP 20 54962492 54962492 single base substitution G A intron_variant LIRI-JP 20 54962949 54962949 single base substitution C T intron_variant LIRI-JP 20 54966067 54966067 single base substitution T A intron_variant LIRI-JP 20 54968052 54968052 single base substitution C T upstream_gene_variant LIRI-JP 20 54968058 54968058 single base substitution T C upstream_gene_variant LIRI-JP 20 54968988 54968988 single base substitution A C upstream_gene_variant LIRI-JP 20 54970009 54970009 single base substitution A G upstream_gene_variant LUSC-KR 20 54944476 54944476 single base substitution A T 3_prime_UTR_variant LUSC-KR 20 54944476 54944476 single base substitution A T downstream_gene_variant LUSC-KR 20 54968189 54968189 single base substitution C T upstream_gene_variant LUSC-US 20 54941160 54941160 single base substitution C T downstream_gene_variant LUSC-US 20 54963223 54963223 single base substitution C A stop_gained G11* 31G>T MALY-DE 20 54947500 54947501 deletion of <=200bp AC - downstream_gene_variant MALY-DE 20 54947500 54947501 deletion of <=200bp AC - intron_variant MALY-DE 20 54961547 54961547 single base substitution G A stop_gained Q29* 85C>T MALY-DE 20 54961853 54961853 single base substitution A T intron_variant MALY-DE 20 54961872 54961872 single base substitution A C intron_variant MELA-AU 20 54939504 54939504 single base substitution C T downstream_gene_variant MELA-AU 20 54940236 54940236 single base substitution C T downstream_gene_variant MELA-AU 20 54940482 54940482 single base substitution C T downstream_gene_variant MELA-AU 20 54940870 54940880 deletion of <=200bp TTTTTGTTGTG - downstream_gene_variant MELA-AU 20 54941148 54941148 single base substitution C T downstream_gene_variant MELA-AU 20 54941691 54941691 single base substitution G A downstream_gene_variant MELA-AU 20 54941812 54941812 single base substitution A G downstream_gene_variant MELA-AU 20 54942238 54942238 single base substitution C T downstream_gene_variant MELA-AU 20 54944048 54944048 single base substitution T C downstream_gene_variant MELA-AU 20 54944257 54944257 single base substitution G T downstream_gene_variant MELA-AU 20 54946161 54946164 deletion of <=200bp GATA - downstream_gene_variant MELA-AU 20 54946161 54946164 deletion of <=200bp GATA - intron_variant MELA-AU 20 54946556 54946556 single base substitution G C downstream_gene_variant MELA-AU 20 54946556 54946556 single base substitution G C intron_variant MELA-AU 20 54947328 54947328 single base substitution C T downstream_gene_variant MELA-AU 20 54947328 54947328 single base substitution C T intron_variant MELA-AU 20 54948830 54948830 single base substitution G A intron_variant MELA-AU 20 54949432 54949432 single base substitution C T intron_variant MELA-AU 20 54949644 54949644 single base substitution C T intron_variant MELA-AU 20 54949848 54949848 single base substitution A G intron_variant MELA-AU 20 54949906 54949907 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 54950023 54950023 single base substitution G A intron_variant MELA-AU 20 54952320 54952320 single base substitution G A intron_variant MELA-AU 20 54952990 54952991 multiple base substitution (>=2bp and <=200bp) GA AC intron_variant MELA-AU 20 54953246 54953246 single base substitution C G downstream_gene_variant MELA-AU 20 54953246 54953246 single base substitution C G intron_variant MELA-AU 20 54953579 54953579 single base substitution C T downstream_gene_variant MELA-AU 20 54953579 54953579 single base substitution C T intron_variant MELA-AU 20 54953759 54953759 single base substitution C T downstream_gene_variant MELA-AU 20 54953759 54953759 single base substitution C T intron_variant MELA-AU 20 54953826 54953826 single base substitution G A downstream_gene_variant MELA-AU 20 54953826 54953826 single base substitution G A intron_variant MELA-AU 20 54954425 54954425 single base substitution G A downstream_gene_variant MELA-AU 20 54954425 54954425 single base substitution G A intron_variant MELA-AU 20 54954617 54954617 single base substitution A T downstream_gene_variant MELA-AU 20 54954617 54954617 single base substitution A T intron_variant MELA-AU 20 54954802 54954802 single base substitution G A downstream_gene_variant MELA-AU 20 54954802 54954802 single base substitution G A intron_variant MELA-AU 20 54955338 54955338 single base substitution G A downstream_gene_variant MELA-AU 20 54955338 54955338 single base substitution G A intron_variant MELA-AU 20 54955692 54955692 single base substitution G A downstream_gene_variant MELA-AU 20 54955692 54955692 single base substitution G A intron_variant MELA-AU 20 54957515 54957515 single base substitution G A downstream_gene_variant MELA-AU 20 54957515 54957515 single base substitution G A intron_variant MELA-AU 20 54957837 54957837 single base substitution G A downstream_gene_variant MELA-AU 20 54957837 54957837 single base substitution G A intron_variant MELA-AU 20 54957987 54957987 single base substitution G A downstream_gene_variant MELA-AU 20 54957987 54957987 single base substitution G A intron_variant MELA-AU 20 54958040 54958040 single base substitution C T downstream_gene_variant MELA-AU 20 54958040 54958040 single base substitution C T splice_donor_variant MELA-AU 20 54958048 54958048 single base substitution G A downstream_gene_variant MELA-AU 20 54958048 54958048 single base substitution G A missense_variant H187Y 559C>T MELA-AU 20 54958519 54958519 single base substitution G A downstream_gene_variant MELA-AU 20 54958519 54958519 single base substitution G A intron_variant MELA-AU 20 54959260 54959260 single base substitution G A downstream_gene_variant MELA-AU 20 54959260 54959260 single base substitution G A intron_variant MELA-AU 20 54959962 54959962 single base substitution C T downstream_gene_variant MELA-AU 20 54959962 54959962 single base substitution C T intron_variant MELA-AU 20 54960023 54960023 single base substitution G A downstream_gene_variant MELA-AU 20 54960023 54960023 single base substitution G A intron_variant MELA-AU 20 54960850 54960850 single base substitution C T downstream_gene_variant MELA-AU 20 54960850 54960850 single base substitution C T intron_variant MELA-AU 20 54963074 54963074 single base substitution A C intron_variant MELA-AU 20 54963162 54963162 single base substitution C T intron_variant MELA-AU 20 54963172 54963172 single base substitution G A intron_variant MELA-AU 20 54963340 54963340 single base substitution C T intron_variant MELA-AU 20 54963524 54963524 single base substitution G A 5_prime_UTR_variant MELA-AU 20 54963524 54963524 single base substitution G A intron_variant MELA-AU 20 54963883 54963883 single base substitution A T intron_variant MELA-AU 20 54964246 54964246 single base substitution G A intron_variant MELA-AU 20 54964726 54964726 single base substitution A G intron_variant MELA-AU 20 54967113 54967113 single base substitution A G 5_prime_UTR_variant MELA-AU 20 54967113 54967113 single base substitution A G intron_variant MELA-AU 20 54967174 54967174 single base substitution C T 5_prime_UTR_variant MELA-AU 20 54967174 54967174 single base substitution C T intron_variant MELA-AU 20 54967199 54967200 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 20 54967199 54967200 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 54967199 54967200 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 20 54967301 54967301 single base substitution A G 5_prime_UTR_variant MELA-AU 20 54967301 54967301 single base substitution A G upstream_gene_variant MELA-AU 20 54967381 54967381 single base substitution A G 5_prime_UTR_variant MELA-AU 20 54967381 54967381 single base substitution A G upstream_gene_variant MELA-AU 20 54967429 54967429 single base substitution G A upstream_gene_variant MELA-AU 20 54967435 54967435 single base substitution G A upstream_gene_variant MELA-AU 20 54967436 54967436 single base substitution G A upstream_gene_variant MELA-AU 20 54968191 54968191 single base substitution C T upstream_gene_variant MELA-AU 20 54968244 54968244 single base substitution G A upstream_gene_variant MELA-AU 20 54968939 54968939 single base substitution C T upstream_gene_variant MELA-AU 20 54969196 54969196 single base substitution C T upstream_gene_variant MELA-AU 20 54969726 54969726 single base substitution C T upstream_gene_variant MELA-AU 20 54970420 54970420 single base substitution C A upstream_gene_variant MELA-AU 20 54970983 54970983 single base substitution G T upstream_gene_variant MELA-AU 20 54971407 54971407 single base substitution C T upstream_gene_variant MELA-AU 20 54971636 54971636 single base substitution C T upstream_gene_variant ORCA-IN 20 54954182 54954182 single base substitution G C downstream_gene_variant ORCA-IN 20 54954182 54954182 single base substitution G C intron_variant OV-AU 20 54954430 54954430 single base substitution G A downstream_gene_variant OV-AU 20 54954430 54954430 single base substitution G A intron_variant OV-AU 20 54957960 54957960 single base substitution G C downstream_gene_variant OV-AU 20 54957960 54957960 single base substitution G C intron_variant OV-AU 20 54965638 54965638 single base substitution C T 5_prime_UTR_variant OV-AU 20 54965638 54965638 single base substitution C T intron_variant OV-AU 20 54969522 54969522 single base substitution A C upstream_gene_variant OV-AU 20 54971986 54971986 single base substitution T C upstream_gene_variant OV-US 20 54948523 54948523 single base substitution T C synonymous_variant G265G 795A>G PACA-AU 20 54945721 54945721 single base substitution A C downstream_gene_variant PACA-AU 20 54945721 54945721 single base substitution A C intron_variant PACA-AU 20 54945721 54945721 single base substitution A C splice_region_variant PACA-AU 20 54946487 54946487 single base substitution A T downstream_gene_variant PACA-AU 20 54946487 54946487 single base substitution A T intron_variant PACA-AU 20 54946992 54946992 deletion of <=200bp A - downstream_gene_variant PACA-AU 20 54946992 54946992 deletion of <=200bp A - intron_variant PACA-AU 20 54951999 54951999 single base substitution G T intron_variant PACA-AU 20 54952901 54952901 single base substitution G A intron_variant PACA-AU 20 54955396 54955396 single base substitution G A downstream_gene_variant PACA-AU 20 54955396 54955396 single base substitution G A intron_variant PACA-AU 20 54956288 54956288 single base substitution G C downstream_gene_variant PACA-AU 20 54956288 54956288 single base substitution G C intron_variant PACA-AU 20 54957750 54957750 deletion of <=200bp G - downstream_gene_variant PACA-AU 20 54957750 54957750 deletion of <=200bp G - intron_variant PACA-AU 20 54960056 54960056 single base substitution C T downstream_gene_variant PACA-AU 20 54960056 54960056 single base substitution C T intron_variant PACA-AU 20 54961028 54961028 single base substitution C A downstream_gene_variant PACA-AU 20 54961028 54961028 single base substitution C A intron_variant PACA-AU 20 54966955 54966955 single base substitution A C intron_variant PACA-AU 20 54969448 54969448 single base substitution G T upstream_gene_variant PACA-AU 20 54970310 54970310 single base substitution C T upstream_gene_variant PACA-AU 20 54972147 54972147 single base substitution A G upstream_gene_variant PACA-AU 20 54972326 54972326 single base substitution G A upstream_gene_variant PACA-CA 20 54943341 54943341 single base substitution C T downstream_gene_variant PACA-CA 20 54956764 54956764 single base substitution G A downstream_gene_variant PACA-CA 20 54956764 54956764 single base substitution G A intron_variant PACA-CA 20 54959518 54959518 single base substitution A T downstream_gene_variant PACA-CA 20 54959518 54959518 single base substitution A T intron_variant PACA-CA 20 54959556 54959556 single base substitution G A downstream_gene_variant PACA-CA 20 54959556 54959556 single base substitution G A intron_variant PACA-CA 20 54960972 54960972 single base substitution C G downstream_gene_variant PACA-CA 20 54960972 54960972 single base substitution C G intron_variant PACA-CA 20 54960996 54960996 single base substitution C T downstream_gene_variant PACA-CA 20 54960996 54960996 single base substitution C T intron_variant PACA-CA 20 54961627 54961627 single base substitution G A intron_variant PACA-CA 20 54963092 54963092 single base substitution C A intron_variant PACA-CA 20 54966407 54966407 single base substitution G A intron_variant PACA-CA 20 54967567 54967567 single base substitution G C upstream_gene_variant PACA-CA 20 54970446 54970446 single base substitution G A upstream_gene_variant PACA-CA 20 54971804 54971804 single base substitution C A upstream_gene_variant PAEN-AU 20 54944514 54944514 single base substitution A T 3_prime_UTR_variant PAEN-AU 20 54944514 54944514 single base substitution A T downstream_gene_variant PAEN-AU 20 54957398 54957398 single base substitution G T downstream_gene_variant PAEN-AU 20 54957398 54957398 single base substitution G T intron_variant PAEN-IT 20 54961136 54961136 single base substitution G T downstream_gene_variant PAEN-IT 20 54961136 54961136 single base substitution G T intron_variant PAEN-IT 20 54968201 54968201 single base substitution C T upstream_gene_variant PBCA-DE 20 54941945 54941945 single base substitution T G downstream_gene_variant PBCA-DE 20 54948876 54948876 single base substitution C A intron_variant PBCA-DE 20 54959023 54959023 single base substitution C T downstream_gene_variant PBCA-DE 20 54959023 54959023 single base substitution C T intron_variant PBCA-DE 20 54971161 54971161 single base substitution C T upstream_gene_variant PRAD-CA 20 54941224 54941224 single base substitution T A downstream_gene_variant PRAD-CA 20 54955026 54955026 single base substitution G A downstream_gene_variant PRAD-CA 20 54955026 54955026 single base substitution G A intron_variant PRAD-CA 20 54968189 54968189 single base substitution C T upstream_gene_variant PRAD-CA 20 54968191 54968191 single base substitution C T upstream_gene_variant PRAD-CA 20 54969511 54969511 single base substitution C T upstream_gene_variant PRAD-CA 20 54969950 54969950 single base substitution T C upstream_gene_variant PRAD-UK 20 54954130 54954130 insertion of <=200bp - A downstream_gene_variant PRAD-UK 20 54954130 54954130 insertion of <=200bp - A intron_variant PRAD-UK 20 54954137 54954137 insertion of <=200bp - A downstream_gene_variant PRAD-UK 20 54954137 54954137 insertion of <=200bp - A intron_variant PRAD-UK 20 54959517 54959517 single base substitution T A downstream_gene_variant PRAD-UK 20 54959517 54959517 single base substitution T A intron_variant PRAD-UK 20 54960043 54960043 single base substitution C T downstream_gene_variant PRAD-UK 20 54960043 54960043 single base substitution C T intron_variant PRAD-UK 20 54967080 54967080 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant PRAD-UK 20 54967080 54967080 single base substitution C A intron_variant PRAD-UK 20 54967415 54967415 single base substitution C T upstream_gene_variant PRAD-UK 20 54967456 54967456 single base substitution C T upstream_gene_variant PRAD-UK 20 54967457 54967457 single base substitution A T upstream_gene_variant READ-US 20 54941214 54941214 single base substitution C T downstream_gene_variant READ-US 20 54948538 54948538 single base substitution C A missense_variant E260D 780G>T RECA-EU 20 54954307 54954307 single base substitution T G downstream_gene_variant RECA-EU 20 54954307 54954307 single base substitution T G intron_variant RECA-EU 20 54967458 54967458 single base substitution G A upstream_gene_variant RECA-EU 20 54968568 54968568 single base substitution G T upstream_gene_variant RECA-EU 20 54971097 54971097 single base substitution A G upstream_gene_variant SKCA-BR 20 54941068 54941068 single base substitution C T downstream_gene_variant SKCA-BR 20 54949152 54949152 single base substitution C T intron_variant SKCA-BR 20 54949349 54949349 single base substitution G A intron_variant SKCA-BR 20 54950154 54950154 single base substitution T A intron_variant SKCA-BR 20 54950838 54950838 single base substitution C T intron_variant SKCA-BR 20 54951902 54951902 single base substitution G A intron_variant SKCA-BR 20 54954414 54954414 single base substitution G A downstream_gene_variant SKCA-BR 20 54954414 54954414 single base substitution G A intron_variant SKCA-BR 20 54954914 54954914 single base substitution G A downstream_gene_variant SKCA-BR 20 54954914 54954914 single base substitution G A intron_variant SKCA-BR 20 54956408 54956408 single base substitution C T downstream_gene_variant SKCA-BR 20 54956408 54956408 single base substitution C T intron_variant SKCA-BR 20 54956809 54956809 single base substitution A G downstream_gene_variant SKCA-BR 20 54956809 54956809 single base substitution A G intron_variant SKCA-BR 20 54960837 54960837 single base substitution A T downstream_gene_variant SKCA-BR 20 54960837 54960837 single base substitution A T intron_variant SKCA-BR 20 54961695 54961695 single base substitution T A intron_variant SKCA-BR 20 54962772 54962772 single base substitution T G intron_variant SKCA-BR 20 54964711 54964711 single base substitution G A intron_variant SKCA-BR 20 54965901 54965901 single base substitution C A intron_variant SKCA-BR 20 54967302 54967302 single base substitution C T 5_prime_UTR_variant SKCA-BR 20 54967302 54967302 single base substitution C T upstream_gene_variant SKCA-BR 20 54967404 54967404 single base substitution G A upstream_gene_variant SKCA-BR 20 54968189 54968189 single base substitution C T upstream_gene_variant SKCA-BR 20 54968215 54968217 deletion of <=200bp TAC - upstream_gene_variant SKCA-BR 20 54968223 54968223 single base substitution C T upstream_gene_variant SKCA-BR 20 54968870 54968870 single base substitution C T upstream_gene_variant SKCM-US 20 54940142 54940142 single base substitution G A downstream_gene_variant SKCM-US 20 54941148 54941148 single base substitution C T downstream_gene_variant SKCM-US 20 54941180 54941180 single base substitution T C downstream_gene_variant SKCM-US 20 54956548 54956548 single base substitution C T downstream_gene_variant SKCM-US 20 54956548 54956548 single base substitution C T missense_variant G216R 646G>A SKCM-US 20 54961500 54961500 single base substitution A C synonymous_variant A44A 132T>G SKCM-US 20 54961538 54961538 single base substitution G A missense_variant P32S 94C>T STAD-US 20 54948571 54948571 single base substitution C T synonymous_variant S249S 747G>A STAD-US 20 54956577 54956577 single base substitution A G downstream_gene_variant STAD-US 20 54956577 54956577 single base substitution A G missense_variant V206A 617T>C STAD-US 20 54956591 54956591 single base substitution A G downstream_gene_variant STAD-US 20 54956591 54956591 single base substitution A G synonymous_variant H201H 603T>C STAD-US 20 54959346 54959346 single base substitution C T downstream_gene_variant STAD-US 20 54959346 54959346 single base substitution C T synonymous_variant Q118Q 354G>A STAD-US 20 54961381 54961381 single base substitution A T downstream_gene_variant STAD-US 20 54961381 54961381 single base substitution A T missense_variant V84E 251T>A STAD-US 20 54961466 54961466 single base substitution G A missense_variant R56C 166C>T STAD-US 20 54970640 54970640 single base substitution G A upstream_gene_variant THCA-SA 20 54967065 54967065 single base substitution G C 5_prime_UTR_variant THCA-SA 20 54967065 54967065 single base substitution G C intron_variant UCEC-US 20 54940226 54940239 deletion of <=200bp AAAGATTTTTCAAG - downstream_gene_variant UCEC-US 20 54941214 54941214 single base substitution C T downstream_gene_variant UCEC-US 20 54941235 54941235 single base substitution C A downstream_gene_variant UCEC-US 20 54958153 54958153 single base substitution C A downstream_gene_variant UCEC-US 20 54958153 54958153 single base substitution C A stop_gained E152* 454G>T UCEC-US 20 54961464 54961464 single base substitution G A synonymous_variant R56R 168C>T UCEC-US 20 54961474 54961474 single base substitution G T missense_variant S53Y 158C>A UCEC-US 20 54970682 54970682 single base substitution A G upstream_gene_variant UCEC-US 20 54972347 54972347 single base substitution T G upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-B7-5816-01 COSM4099637 c.251T>A p.V84E Substitution - Missense 20:56386325-56386325 - ESCC_55 COSM5631904 c.172C>T p.P58S Substitution - Missense 20:56386404-56386404 - TCGA-BR-4184-01 COSM4099636 c.354G>A p.Q118Q Substitution - coding silent 20:56384290-56384290 - PT16_1 COSM5898605 c.52C>T p.P18S Substitution - Missense 20:56386524-56386524 - MZ7-mel COSM21188 c.520G>A p.V174M Substitution - Missense 20:56383031-56383031 - M14 COSM1681783 c.736T>C p.Y246H Substitution - Missense 20:56373526-56373526 - SH-1679 COSM5019517 c.1117A>G p.M373V Substitution - Missense 20:56370253-56370253 - PD1519a COSM20447 c.463A>C p.S155R Substitution - Missense 20:56383088-56383088 - YUKAT COSM5392374 c.580C>T p.L194F Substitution - Missense 20:56381558-56381558 - ESCC_51 COSM4293208 c.42G>T p.K14N Substitution - Missense 20:56388156-56388156 - MDA-N COSM1681783 c.736T>C p.Y246H Substitution - Missense 20:56373526-56373526 - TCGA-18-3417-01 COSM724104 c.31G>T p.G11* Substitution - Nonsense 20:56388167-56388167 - PD1519a COSM20447 c.463A>C p.S155R Substitution - Missense 20:56383088-56383088 - PD5942a COSM5795910 c.434G>T p.G145V Substitution - Missense 20:56383117-56383117 - PT37 COSM2763899 c.1082C>T p.S361L Substitution - Missense 20:56370288-56370288 - RKO COSM2763907 c.665T>C p.L222P Substitution - Missense 20:56381473-56381473 - SC_9029 COSM5565031 c.658A>G p.R220G Substitution - Missense 20:56381480-56381480 - SH-1641 COSM3736282 c.91T>A p.F31I Substitution - Missense 20:56386485-56386485 - TCGA-JW-A5VJ-01 COSM4818573 c.2T>G p.M1R Substitution - Missense 20:56388196-56388196 - MO_1114 COSM5554787 c.517G>A p.G173R Substitution - Missense 20:56383034-56383034 - DM77 COSM5607923 c.859A>G p.T287A Substitution - Missense 20:56370655-56370655 - HCT15 COSM2763901 c.998C>T p.T333I Substitution - Missense 20:56370516-56370516 - TCGA-DD-A4NS-01 COSM4926364 c.539G>A p.R180K Substitution - Missense 20:56383012-56383012 - TCGA-CD-A48C-01 COSM1412614 c.747G>A p.S249S Substitution - coding silent 20:56373515-56373515 - B96-Tumor COSM1751509 c.624A>G p.L208L Substitution - coding silent 20:56381514-56381514 - T3610 COSM4664749 c.253C>T p.P85S Substitution - Missense 20:56386323-56386323 - ESO-160 COSM1245843 c.932A>T p.D311V Substitution - Missense 20:56370582-56370582 - 254 COSM3731659 c.913A>T p.M305L Substitution - Missense 20:56370601-56370601 - SC_9049 COSM5569879 c.1152A>G p.T384T Substitution - coding silent 20:56370218-56370218 - SNUH_G76_S1 COSM4418050 c.800C>T p.A267V Substitution - Missense 20:56373462-56373462 - SH-102782 COSM3736282 c.91T>A p.F31I Substitution - Missense 20:56386485-56386485 - 164T COSM5576093 c.79G>A p.V27M Substitution - Missense 20:56386497-56386497 - TCGA-ED-A459-01 COSM4935607 c.48A>T p.T16T Substitution - coding silent 20:56386528-56386528 - 107529 COSM93922 c.256C>T p.H86Y Substitution - Missense 20:56386320-56386320 - ESO-051 COSM1245842 c.869G>T p.C290F Substitution - Missense 20:56370645-56370645 - TCGA-HJ-7597-01 COSM4099635 c.603T>C p.H201H Substitution - coding silent 20:56381535-56381535 - TCGA-DK-A1AD-01 COSM1307535 c.969A>C p.L323F Substitution - Missense 20:56370545-56370545 - Pat_07_B COSM5858145 c.32G>T p.G11V Substitution - Missense 20:56388166-56388166 - T2944 COSM4664750 c.167G>A p.R56H Substitution - Missense 20:56386409-56386409 - TCGA-D3-A2JP-06 COSM3548022 c.646G>A p.G216R Substitution - Missense 20:56381492-56381492 - ME009T COSM224055 c.11C>T p.S4F Substitution - Missense 20:56388187-56388187 - TCGA-BS-A0UF-01 COSM1028261 c.158C>A p.S53Y Substitution - Missense 20:56386418-56386418 - BD110T COSM5514363 c.425_429delGAAAG p.G142fs*3 Deletion - Frameshift 20:56383122-56383126 - T407 COSM4664751 c.125G>A p.G42D Substitution - Missense 20:56386451-56386451 - CSCC-5-T COSM4455089 c.663A>G p.E221E Substitution - coding silent 20:56381475-56381475 - S01516 COSM5669124 c.415C>G p.L139V Substitution - Missense 20:56383136-56383136 - HCT15 COSM2763923 c.28T>C p.S10P Substitution - Missense 20:56388170-56388170 - T3446 COSM1176769 c.746C>T p.S249L Substitution - Missense 20:56373516-56373516 - MZ7-mel COSM21188 c.520G>A p.V174M Substitution - Missense 20:56383031-56383031 - CSCC-55-T COSM4554193 c.614G>A p.R205K Substitution - Missense 20:56381524-56381524 - PD0276a COSM21244 c.1082C>G p.S361* Substitution - Nonsense 20:56370288-56370288 - TCGA-AN-A0AK-01 COSM3841349 c.293G>A p.S98N Substitution - Missense 20:56386283-56386283 - MZ7-mel COSM21188 c.520G>A p.V174M Substitution - Missense 20:56383031-56383031 - SNU-C4 COSM2763898 c.1149C>A p.I383I Substitution - coding silent 20:56370221-56370221 - pfg181T COSM4755568 c.241G>A p.A81T Substitution - Missense 20:56386335-56386335 - 17759 COSM48249 c.1193C>T p.S398L Substitution - Missense 20:56370177-56370177 - T3204 COSM4664747 c.1075C>T p.L359F Substitution - Missense 20:56370295-56370295 - SH-3776 COSM5019517 c.1117A>G p.M373V Substitution - Missense 20:56370253-56370253 - Gp2D COSM2763903 c.890C>A p.P297H Substitution - Missense 20:56370624-56370624 - CRC-03T COSM5451581 c.854+5G>C p.? Unknown 20:56373403-56373403 - PD7240a COSM5781895 c.914T>G p.M305R Substitution - Missense 20:56370600-56370600 - PD0276a COSM21244 c.1082C>G p.S361* Substitution - Nonsense 20:56370288-56370288 - SH-7282 COSM3736282 c.91T>A p.F31I Substitution - Missense 20:56386485-56386485 - TCGA-AC-A5XS-01 COSM4390771 c.266C>G p.S89C Substitution - Missense 20:56386310-56386310 - 8065653 COSM3389841 c.855-6T>G p.? Unknown 20:56370665-56370665 - TCGA-FU-A3HY-01 COSM459722 c.1160C>T p.S387L Substitution - Missense 20:56370210-56370210 - DLD1 COSM2763923 c.28T>C p.S10P Substitution - Missense 20:56388170-56388170 - S10-47754-TP COSM4991385 c.720G>C p.L240F Substitution - Missense 20:56373542-56373542 - TCGA-DR-A0ZM-01 COSM459722 c.1160C>T p.S387L Substitution - Missense 20:56370210-56370210 - PD7248a COSM21244 c.1082C>G p.S361* Substitution - Nonsense 20:56370288-56370288 - PT48 COSM5933985 c.311C>T p.S104L Substitution - Missense 20:56386265-56386265 - ESCC_37 COSM318872 c.42+1G>C p.? Unknown 20:56388155-56388155 - SH-7032 COSM3736282 c.91T>A p.F31I Substitution - Missense 20:56386485-56386485 - LUAD-S01315 COSM345151 c.141C>G p.V47V Substitution - coding silent 20:56386435-56386435 - 07-058 COSM3736282 c.91T>A p.F31I Substitution - Missense 20:56386485-56386485 - TCGA-CA-6717-01 COSM1412614 c.747G>A p.S249S Substitution - coding silent 20:56373515-56373515 - TCGA-13-0890-01 COSM80904 c.795A>G p.G265G Substitution - coding silent 20:56373467-56373467 - tumor_4119279 COSM2763920 c.85C>T p.Q29* Substitution - Nonsense 20:56386491-56386491 - TCGA-EE-A2MI-06 COSM3548024 c.94C>T p.P32S Substitution - Missense 20:56386482-56386482 - LP6007508-DNA_A01 COSM5951932 c.516C>T p.A172A Substitution - coding silent 20:56383035-56383035 - SC_9049 COSM5562281 c.1102C>T p.P368S Substitution - Missense 20:56370268-56370268 - MDA-MB-435 COSM1681783 c.736T>C p.Y246H Substitution - Missense 20:56373526-56373526 - T155 COSM1176769 c.746C>T p.S249L Substitution - Missense 20:56373516-56373516 - PD0276a COSM21244 c.1082C>G p.S361* Substitution - Nonsense 20:56370288-56370288 - TCGA-BR-6452-01 COSM4099634 c.617T>C p.V206A Substitution - Missense 20:56381521-56381521 - TCGA-D9-A4Z6-01 COSM3548023 c.594T>G p.G198G Substitution - coding silent 20:56381544-56381544 - ESCC_37 COSM4293208 c.42G>T p.K14N Substitution - Missense 20:56388156-56388156 - YURTHE COSM1713705 c.772_773AA>GC p.K258A Substitution - Missense 20:56373489-56373490 - 46M COSM5587262 c.983C>T p.P328L Substitution - Missense 20:56370531-56370531 - TCGA-DU-6399-01 COSM3972623 c.681G>T p.K227N Substitution - Missense 20:56381457-56381457 - T3610 COSM4664748 c.768_781del14 p.D256fs*11 Deletion - Frameshift 20:56373481-56373494 - TCGA-BR-8487-01 COSM4099638 c.166C>T p.R56C Substitution - Missense 20:56386410-56386410 - TCGA-D9-A6EC-06 COSM4404295 c.132T>G p.A44A Substitution - coding silent 20:56386444-56386444 - 2334187 COSM318872 c.42+1G>C p.? Unknown 20:56388155-56388155 - PD11774a COSM5024915 c.465C>A p.S155R Substitution - Missense 20:56383086-56383086 - DLD1 COSM2763901 c.998C>T p.T333I Substitution - Missense 20:56370516-56370516 - TCGA-DI-A0WH-01 COSM191741 c.168C>T p.R56R Substitution - coding silent 20:56386408-56386408 - TCGA-AX-A0J0-01 COSM1028258 c.454G>T p.E152* Substitution - Nonsense 20:56383097-56383097 - SH-6055 COSM3736282 c.91T>A p.F31I Substitution - Missense 20:56386485-56386485 - Pat_07_A COSM5858145 c.32G>T p.G11V Substitution - Missense 20:56388166-56388166 - PR-02-2072 COSM243139 c.836T>C p.V279A Substitution - Missense 20:56373426-56373426 - CSCC-40-T COSM4490207 c.35C>T p.P12L Substitution - Missense 20:56388163-56388163 - TCGA-F5-6814-01 COSM3423737 c.780G>T p.E260D Substitution - Missense 20:56373482-56373482 - Gp5D COSM2763903 c.890C>A p.P297H Substitution - Missense 20:56370624-56370624 - YUKADI COSM1713704 c.785T>G p.L262* Substitution - Nonsense 20:56373477-56373477 - 53M COSM5594244 c.454G>A p.E152K Substitution - Missense 20:56383097-56383097 - MZ7-mel COSM21188 c.520G>A p.V174M Substitution - Missense 20:56383031-56383031 - PTC-7C COSM4134671 c.21C>T p.N7N Substitution - coding silent 20:56388177-56388177 - SH-9248 COSM3736282 c.91T>A p.F31I Substitution - Missense 20:56386485-56386485 - CHC1154T COSM5347634 c.1093_1095delAAG p.K365delK Deletion - In frame 20:56370275-56370277 - B96 COSM1751509 c.624A>G p.L208L Substitution - coding silent 20:56381514-56381514 - 112634 COSM93921 c.952C>G p.L318V Substitution - Missense 20:56370562-56370562 - PD0276a COSM21244 c.1082C>G p.S361* Substitution - Nonsense 20:56370288-56370288 - SH-1439 COSM3736282 c.91T>A p.F31I Substitution - Missense 20:56386485-56386485 - TCGA-ED-A7XP-01 COSM4913383 c.248G>A p.S83N Substitution - Missense 20:56386328-56386328 - ESCC-159T COSM3939413 c.1154C>A p.A385E Substitution - Missense 20:56370216-56370216 - TCGA-AR-A0U2-01 COSM444077 c.242C>T p.A81V Substitution - Missense 20:56386334-56386334 - SH-7329 COSM3736282 c.91T>A p.F31I Substitution - Missense 20:56386485-56386485 - TCGA-AC-A23H-01 COSM3841350 c.11C>A p.S4Y Substitution - Missense 20:56388187-56388187 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.250816;Hs.250821;Hs.250822 20q13 603072 2469682|CGAP|BC001280|C/G|non-coding||1766|Validated; 2469682|CGAP|BC002499|C/G|non-coding||1743|Validated; 2469682|CGAP|BC006423|C/G|non-coding||1659|Validated; 2469682|CGAP|BC027464|C/G|non-coding||1801|Validated; 602231|dbSNP|BC001280|A/G|non-coding||70|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A T Missense p.V84E c.251T>A 20 54961381 STAD C A Missense p.C290F c.869G>T 20 54945701 ESCA C A Missense p.K227N c.681G>T 20 54956513 LGG C A Missense p.W277L c.830G>T 20 54948488 LUAD C A Nonsense p.G11* c.31G>T 20 54963223 LUSC C G SpliceDonorSNV . c.42+1G>C 20 54963211 SCLC C T Missense p.G11R c.31G>A 20 54963223 GBM C T Missense p.G216R c.646G>A 20 54956548 CM G A Missense p.A81V c.242C>T 20 54961390 BRCA G A Missense p.H176Y c.526C>T 20 54958081 STAD G A Missense p.P32S c.94C>T 20 54961538 CM G A Missense p.S398L c.1193C>T 20 54945233 LUAD G A Missense p.S4F c.11C>T 20 54963243 CM G A Synonymous p.R56R c.168C>T 20 54961464 UCEC T A Missense p.D311V c.932A>T 20 54945638 ESCA T C Synonymous p.G265G c.795A>G 20 54948523 OV T G Missense p.L323F c.969A>C 20 54945601 BLCA