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 1 33058581 33058581 + Nonsense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 g.chr1:33058581C>T c.49C>T c.(49-51)Cag>Tag p.Q17* BLCA 1 33058612 33058612 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 g.chr1:33058612G>A c.80G>A c.(79-81)aGt>aAt p.S27N BLCA 1 33059171 33059171 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 g.chr1:33059171G>C c.639G>C c.(637-639)ttG>ttC p.L213F BLCA 1 33059276 33059276 + Missense_Mutation SNP G G C TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 g.chr1:33059276G>C c.744G>C c.(742-744)caG>caC p.Q248H BRCA 1 33065914 33065914 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr1:33065914G>A c.1220G>A c.(1219-1221)aGa>aAa p.R407K CESC 1 33058778 33058778 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 g.chr1:33058778C>T c.246C>T c.(244-246)ttC>ttT p.F82F COAD 1 33058547 33058549 + In_Frame_Del DEL TCA TCA - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr1:33058547_33058549delTCA c.15_17delTCA c.(13-18)tctcat>tct p.H6del COAD 1 33059217 33059217 + Nonsense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr1:33059217C>T c.685C>T c.(685-687)Cga>Tga p.R229* COADREAD 1 33058547 33058549 + In_Frame_Del DEL TCA TCA - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr1:33058547_33058549delTCA c.15_17delTCA c.(13-18)tctcat>tct p.H6del COADREAD 1 33059014 33059014 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:33059014C>A c.482C>A c.(481-483)tCt>tAt p.S161Y COADREAD 1 33059217 33059217 + Nonsense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr1:33059217C>T c.685C>T c.(685-687)Cga>Tga p.R229* COADREAD 1 33065909 33065909 + Silent SNP G G A TCGA-AG-A014-01A-02W-A00K-09 TCGA-AG-A014-10A-01W-A00K-09 g.chr1:33065909G>A c.1215G>A c.(1213-1215)gaG>gaA p.E405E ESCA 1 33060715 33060715 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr1:33060715C>T c.884C>T c.(883-885)gCa>gTa p.A295V HNSC 1 33058778 33058778 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr1:33058778C>T c.246C>T c.(244-246)ttC>ttT p.F82F HNSC 1 33058894 33058894 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr1:33058894C>T c.362C>T c.(361-363)tCc>tTc p.S121F HNSC 1 33059037 33059037 + Missense_Mutation SNP G G C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 g.chr1:33059037G>C c.505G>C c.(505-507)Gag>Cag p.E169Q HNSC 1 33059296 33059296 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 g.chr1:33059296C>T c.764C>T c.(763-765)tCt>tTt p.S255F HNSC 1 33059310 33059310 + Missense_Mutation SNP T T A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 g.chr1:33059310T>A c.778T>A c.(778-780)Tat>Aat p.Y260N HNSC 1 33065901 33065901 + Missense_Mutation SNP G G A TCGA-DQ-5624-01A-01D-1870-08 TCGA-DQ-5624-10A-01D-1870-08 g.chr1:33065901G>A c.1207G>A c.(1207-1209)Gaa>Aaa p.E403K HNSC 1 33065908 33065908 + Missense_Mutation SNP A A C TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 g.chr1:33065908A>C c.1214A>C c.(1213-1215)gAg>gCg p.E405A LUAD 1 33060719 33060719 + Frame_Shift_Del DEL C C - TCGA-55-A491-01A-11D-A24D-08 TCGA-55-A491-10A-01D-A24F-08 g.chr1:33060719delC c.888delC c.(886-888)gacfs p.D296fs LUSC 1 33059073 33059073 + Missense_Mutation SNP A A G TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 g.chr1:33059073A>G c.541A>G c.(541-543)Aat>Gat p.N181D LUSC 1 33060763 33060763 + Missense_Mutation SNP C C T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 g.chr1:33060763C>T c.932C>T c.(931-933)cCa>cTa p.P311L PAAD 1 33058584 33058584 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:33058584C>T c.52C>T c.(52-54)Cgc>Tgc p.R18C PRAD 1 33058588 33058588 + Missense_Mutation SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:33058588G>T c.56G>T c.(55-57)aGg>aTg p.R19M PRAD 1 33058779 33058779 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:33058779G>A c.247G>A c.(247-249)Gta>Ata p.V83I READ 1 33059014 33059014 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:33059014C>A c.482C>A c.(481-483)tCt>tAt p.S161Y READ 1 33065909 33065909 + Silent SNP G G A TCGA-AG-A014-01A-02W-A00K-09 TCGA-AG-A014-10A-01W-A00K-09 g.chr1:33065909G>A c.1215G>A c.(1213-1215)gaG>gaA p.E405E SARC 1 33066007 33066007 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr1:33066007C>T c.1313C>T c.(1312-1314)cCc>cTc p.P438L SKCM 1 33058852 33058852 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr1:33058852T>C c.320T>C c.(319-321)aTg>aCg p.M107T SKCM 1 33060667 33060667 + Missense_Mutation SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr1:33060667G>A c.836G>A c.(835-837)cGg>cAg p.R279Q SKCM 1 33060668 33060668 + Silent SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr1:33060668G>A c.837G>A c.(835-837)cgG>cgA p.R279R SKCM 1 33060732 33060732 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr1:33060732C>T c.901C>T c.(901-903)Ctt>Ttt p.L301F SKCM 1 33060754 33060754 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 g.chr1:33060754G>A c.923G>A c.(922-924)aGg>aAg p.R308K SKCM 1 33065969 33065969 + Silent SNP T T C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chr1:33065969T>C c.1275T>C c.(1273-1275)gtT>gtC p.V425V

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 1 33058581 33058581 single base substitution C T stop_gained Q17* 49C>T BLCA-US 1 33059171 33059171 single base substitution G C missense_variant L213F 639G>C BRCA-EU 1 33000282 33000282 single base substitution A C upstream_gene_variant BRCA-EU 1 33001625 33001625 single base substitution A G upstream_gene_variant BRCA-EU 1 33001976 33001976 single base substitution C T upstream_gene_variant BRCA-EU 1 33002060 33002061 deletion of <=200bp TC - upstream_gene_variant BRCA-EU 1 33002374 33002374 single base substitution C G upstream_gene_variant BRCA-EU 1 33003105 33003105 single base substitution C A upstream_gene_variant BRCA-EU 1 33003665 33003665 single base substitution G T upstream_gene_variant BRCA-EU 1 33008674 33008676 deletion of <=200bp TAT - intron_variant BRCA-EU 1 33010568 33010568 single base substitution G A intron_variant BRCA-EU 1 33012052 33012052 single base substitution A T intron_variant BRCA-EU 1 33012139 33012139 single base substitution G C intron_variant BRCA-EU 1 33015035 33015035 single base substitution C T intron_variant BRCA-EU 1 33017310 33017310 insertion of <=200bp - A intron_variant BRCA-EU 1 33018250 33018250 single base substitution G C intron_variant BRCA-EU 1 33020255 33020255 deletion of <=200bp T - intron_variant BRCA-EU 1 33021608 33021608 single base substitution C T intron_variant BRCA-EU 1 33022966 33022966 deletion of <=200bp T - intron_variant BRCA-EU 1 33023918 33023918 deletion of <=200bp T - intron_variant BRCA-EU 1 33024121 33024121 single base substitution T C intron_variant BRCA-EU 1 33026823 33026823 single base substitution T A intron_variant BRCA-EU 1 33026866 33026866 single base substitution C A intron_variant BRCA-EU 1 33027531 33027531 single base substitution G T intron_variant BRCA-EU 1 33031677 33031677 single base substitution C A intron_variant BRCA-EU 1 33031917 33031917 single base substitution C T intron_variant BRCA-EU 1 33033212 33033212 single base substitution G A intron_variant BRCA-EU 1 33033457 33033457 single base substitution T A intron_variant BRCA-EU 1 33033851 33033851 single base substitution A G intron_variant BRCA-EU 1 33034016 33034016 single base substitution C G intron_variant BRCA-EU 1 33034344 33034344 single base substitution C T intron_variant BRCA-EU 1 33035641 33035641 single base substitution C G intron_variant BRCA-EU 1 33037058 33037058 deletion of <=200bp T - intron_variant BRCA-EU 1 33038386 33038386 single base substitution A C intron_variant BRCA-EU 1 33040162 33040162 single base substitution C T intron_variant BRCA-EU 1 33045854 33045854 single base substitution T A intron_variant BRCA-EU 1 33049343 33049343 single base substitution A G intron_variant BRCA-EU 1 33049728 33049728 single base substitution G A intron_variant BRCA-EU 1 33051037 33051037 insertion of <=200bp - A intron_variant BRCA-EU 1 33051364 33051364 single base substitution G C intron_variant BRCA-EU 1 33051558 33051558 single base substitution C T intron_variant BRCA-EU 1 33054531 33054531 single base substitution G A intron_variant BRCA-EU 1 33055943 33055943 deletion of <=200bp T - intron_variant BRCA-EU 1 33056385 33056385 single base substitution C A intron_variant BRCA-EU 1 33058845 33058845 single base substitution C T missense_variant L105F 313C>T BRCA-EU 1 33059485 33059485 single base substitution T C intron_variant BRCA-EU 1 33059998 33059998 single base substitution G A intron_variant BRCA-EU 1 33060538 33060538 deletion of <=200bp T - intron_variant BRCA-EU 1 33060610 33060610 single base substitution T G intron_variant BRCA-EU 1 33061797 33061797 single base substitution C T intron_variant BRCA-EU 1 33062965 33062965 single base substitution C A intron_variant BRCA-EU 1 33063575 33063575 single base substitution G C intron_variant BRCA-EU 1 33063811 33063811 single base substitution T G intron_variant BRCA-EU 1 33064009 33064009 deletion of <=200bp T - intron_variant BRCA-EU 1 33064316 33064316 single base substitution A C intron_variant BRCA-EU 1 33064319 33064319 single base substitution C T intron_variant BRCA-EU 1 33064454 33064454 single base substitution A G intron_variant BRCA-EU 1 33065047 33065047 single base substitution C T intron_variant BRCA-EU 1 33065200 33065200 single base substitution A G intron_variant BRCA-EU 1 33065262 33065262 single base substitution G C intron_variant BRCA-EU 1 33065904 33065904 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 33065904 33065904 single base substitution G C missense_variant D404H 1210G>C BRCA-EU 1 33066835 33066835 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 33066835 33066835 single base substitution G A downstream_gene_variant BRCA-EU 1 33067987 33067987 single base substitution A G 3_prime_UTR_variant BRCA-EU 1 33067987 33067987 single base substitution A G downstream_gene_variant BRCA-EU 1 33069175 33069175 single base substitution T G 3_prime_UTR_variant BRCA-EU 1 33069175 33069175 single base substitution T G downstream_gene_variant BRCA-EU 1 33072144 33072144 single base substitution C T downstream_gene_variant BRCA-EU 1 33072946 33072946 single base substitution A G downstream_gene_variant BRCA-EU 1 33072974 33072974 single base substitution G C downstream_gene_variant BRCA-EU 1 33073072 33073072 single base substitution G T downstream_gene_variant BRCA-EU 1 33073262 33073262 single base substitution G A downstream_gene_variant BRCA-EU 1 33073807 33073807 single base substitution G A downstream_gene_variant BRCA-FR 1 33014996 33014996 single base substitution G A intron_variant BRCA-FR 1 33018250 33018250 single base substitution G C intron_variant BRCA-FR 1 33023067 33023067 single base substitution A G intron_variant BRCA-FR 1 33033457 33033457 single base substitution T A intron_variant BRCA-FR 1 33035641 33035641 single base substitution C G intron_variant BRCA-FR 1 33038426 33038426 single base substitution G A intron_variant BRCA-FR 1 33060070 33060070 single base substitution G C intron_variant BRCA-FR 1 33063255 33063255 single base substitution G A intron_variant BRCA-FR 1 33071689 33071689 single base substitution G A downstream_gene_variant BRCA-FR 1 33072144 33072144 single base substitution C T downstream_gene_variant BRCA-US 1 33065914 33065914 single base substitution G A 3_prime_UTR_variant BRCA-US 1 33065914 33065914 single base substitution G A missense_variant R407K 1220G>A BRCA-US 1 33065979 33065981 deletion of <=200bp GAA - 3_prime_UTR_variant BRCA-US 1 33065979 33065981 deletion of <=200bp GAA - inframe_deletion E429 CESC-US 1 33058778 33058778 single base substitution C T synonymous_variant F82F 246C>T COAD-US 1 33058547 33058549 deletion of <=200bp TCA - inframe_deletion SH5S COAD-US 1 33059217 33059217 single base substitution C T stop_gained R229* 685C>T COCA-CN 1 33002159 33002159 single base substitution G T upstream_gene_variant COCA-CN 1 33002176 33002176 single base substitution T G upstream_gene_variant COCA-CN 1 33066113 33066113 single base substitution T G 3_prime_UTR_variant EOPC-DE 1 33070307 33070307 single base substitution T C 3_prime_UTR_variant EOPC-DE 1 33070307 33070307 single base substitution T C downstream_gene_variant ESAD-UK 1 33009291 33009291 single base substitution T C intron_variant ESAD-UK 1 33009664 33009664 single base substitution G C intron_variant ESAD-UK 1 33010814 33010814 insertion of <=200bp - A intron_variant ESAD-UK 1 33010929 33010929 single base substitution A G intron_variant ESAD-UK 1 33010992 33010992 single base substitution T G intron_variant ESAD-UK 1 33012181 33012181 single base substitution G T intron_variant ESAD-UK 1 33012559 33012559 single base substitution G C intron_variant ESAD-UK 1 33013954 33013954 single base substitution G C intron_variant ESAD-UK 1 33014214 33014214 single base substitution C T intron_variant ESAD-UK 1 33015862 33015862 insertion of <=200bp - A intron_variant ESAD-UK 1 33017786 33017786 single base substitution G A intron_variant ESAD-UK 1 33020488 33020488 single base substitution G A intron_variant ESAD-UK 1 33022480 33022480 insertion of <=200bp - A intron_variant ESAD-UK 1 33023297 33023297 single base substitution C T intron_variant ESAD-UK 1 33023422 33023422 single base substitution G T intron_variant ESAD-UK 1 33023809 33023809 single base substitution C A intron_variant ESAD-UK 1 33025120 33025120 single base substitution A C intron_variant ESAD-UK 1 33025332 33025332 single base substitution C T intron_variant ESAD-UK 1 33026750 33026750 single base substitution A G intron_variant ESAD-UK 1 33029911 33029911 single base substitution T C intron_variant ESAD-UK 1 33030401 33030401 single base substitution A G intron_variant ESAD-UK 1 33031259 33031259 single base substitution T A intron_variant ESAD-UK 1 33032391 33032391 single base substitution C A intron_variant ESAD-UK 1 33032558 33032558 single base substitution G T intron_variant ESAD-UK 1 33033016 33033016 single base substitution C T intron_variant ESAD-UK 1 33036267 33036267 single base substitution A C intron_variant ESAD-UK 1 33037863 33037863 single base substitution A G intron_variant ESAD-UK 1 33038203 33038203 single base substitution G A intron_variant ESAD-UK 1 33039822 33039822 single base substitution G A intron_variant ESAD-UK 1 33043765 33043765 single base substitution A G intron_variant ESAD-UK 1 33044263 33044263 single base substitution C T intron_variant ESAD-UK 1 33044447 33044447 single base substitution C T intron_variant ESAD-UK 1 33045023 33045023 single base substitution G T intron_variant ESAD-UK 1 33045337 33045337 single base substitution C T intron_variant ESAD-UK 1 33045854 33045854 single base substitution T A intron_variant ESAD-UK 1 33046015 33046015 single base substitution G C intron_variant ESAD-UK 1 33046465 33046465 single base substitution G C intron_variant ESAD-UK 1 33049700 33049700 single base substitution G A intron_variant ESAD-UK 1 33050074 33050074 single base substitution C G intron_variant ESAD-UK 1 33051846 33051846 single base substitution G A intron_variant ESAD-UK 1 33053818 33053818 single base substitution G A intron_variant ESAD-UK 1 33055211 33055211 single base substitution C T intron_variant ESAD-UK 1 33057532 33057532 single base substitution C T intron_variant ESAD-UK 1 33058712 33058712 single base substitution G A synonymous_variant T60T 180G>A ESAD-UK 1 33063029 33063029 single base substitution G A intron_variant ESAD-UK 1 33066769 33066769 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 33066769 33066769 single base substitution G A downstream_gene_variant ESAD-UK 1 33068261 33068261 single base substitution C A 3_prime_UTR_variant ESAD-UK 1 33068261 33068261 single base substitution C A downstream_gene_variant ESAD-UK 1 33070676 33070676 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 33070676 33070676 single base substitution C T downstream_gene_variant ESAD-UK 1 33071644 33071644 single base substitution C T downstream_gene_variant ESAD-UK 1 33074933 33074933 insertion of <=200bp - AAAT downstream_gene_variant ESAD-UK 1 33075573 33075573 single base substitution C T downstream_gene_variant LAML-KR 1 33019543 33019543 single base substitution G A intron_variant LAML-KR 1 33033419 33033419 single base substitution A C intron_variant LAML-KR 1 33050651 33050651 single base substitution G T intron_variant LICA-FR 1 33041611 33041611 single base substitution C T intron_variant LICA-FR 1 33050565 33050565 single base substitution C G intron_variant LINC-JP 1 33002296 33002296 single base substitution C T upstream_gene_variant LINC-JP 1 33013241 33013241 single base substitution A G intron_variant LINC-JP 1 33017233 33017233 single base substitution C A intron_variant LINC-JP 1 33029422 33029422 single base substitution T C intron_variant LINC-JP 1 33029429 33029429 deletion of <=200bp A - intron_variant LINC-JP 1 33032358 33032358 single base substitution T C intron_variant LINC-JP 1 33044976 33044976 single base substitution C T intron_variant LINC-JP 1 33052027 33052027 single base substitution A C intron_variant LINC-JP 1 33053952 33053952 single base substitution T C intron_variant LINC-JP 1 33066026 33066026 single base substitution A C 3_prime_UTR_variant LINC-JP 1 33066099 33066099 single base substitution T C 3_prime_UTR_variant LINC-JP 1 33073313 33073313 single base substitution A G downstream_gene_variant LIRI-JP 1 33011842 33011842 single base substitution T G intron_variant LIRI-JP 1 33013527 33013527 single base substitution G T intron_variant LIRI-JP 1 33017134 33017134 single base substitution G T intron_variant LIRI-JP 1 33018602 33018602 single base substitution A G intron_variant LIRI-JP 1 33020627 33020627 single base substitution C T intron_variant LIRI-JP 1 33022056 33022056 single base substitution A T intron_variant LIRI-JP 1 33022730 33022730 single base substitution C G intron_variant LIRI-JP 1 33023518 33023518 single base substitution A C intron_variant LIRI-JP 1 33023580 33023580 single base substitution A G intron_variant LIRI-JP 1 33025200 33025200 single base substitution G T intron_variant LIRI-JP 1 33025339 33025339 single base substitution T G intron_variant LIRI-JP 1 33027236 33027236 single base substitution G T intron_variant LIRI-JP 1 33027923 33027923 single base substitution G C intron_variant LIRI-JP 1 33028470 33028470 single base substitution C G intron_variant LIRI-JP 1 33029786 33029786 single base substitution A G intron_variant LIRI-JP 1 33031535 33031535 single base substitution G T intron_variant LIRI-JP 1 33032596 33032596 single base substitution T A intron_variant LIRI-JP 1 33033924 33033924 single base substitution C A intron_variant LIRI-JP 1 33036541 33036541 single base substitution A G intron_variant LIRI-JP 1 33038600 33038600 single base substitution A G intron_variant LIRI-JP 1 33039493 33039493 single base substitution T A intron_variant LIRI-JP 1 33044355 33044355 single base substitution G A intron_variant LIRI-JP 1 33044464 33044464 single base substitution G T intron_variant LIRI-JP 1 33045131 33045131 single base substitution T C intron_variant LIRI-JP 1 33045956 33045956 single base substitution C T intron_variant LIRI-JP 1 33047282 33047282 single base substitution A C intron_variant LIRI-JP 1 33047369 33047369 single base substitution T C intron_variant LIRI-JP 1 33048648 33048648 single base substitution A G intron_variant LIRI-JP 1 33048806 33048806 single base substitution C T intron_variant LIRI-JP 1 33050821 33050821 single base substitution C T intron_variant LIRI-JP 1 33051169 33051169 single base substitution T C intron_variant LIRI-JP 1 33054853 33054853 deletion of <=200bp T - intron_variant LIRI-JP 1 33056429 33056429 single base substitution A G intron_variant LIRI-JP 1 33058771 33058771 single base substitution T C missense_variant L80S 239T>C LIRI-JP 1 33062485 33062485 single base substitution C G intron_variant LIRI-JP 1 33064499 33064499 single base substitution T A intron_variant LIRI-JP 1 33065438 33065438 single base substitution G A intron_variant LIRI-JP 1 33066765 33066765 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 33066765 33066765 single base substitution T C downstream_gene_variant LIRI-JP 1 33069414 33069414 single base substitution A T 3_prime_UTR_variant LIRI-JP 1 33069414 33069414 single base substitution A T downstream_gene_variant LIRI-JP 1 33070238 33070238 single base substitution A G 3_prime_UTR_variant LIRI-JP 1 33070238 33070238 single base substitution A G downstream_gene_variant LIRI-JP 1 33071350 33071350 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 33071350 33071350 single base substitution T C downstream_gene_variant LIRI-JP 1 33071462 33071462 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 33071462 33071462 single base substitution T C downstream_gene_variant LIRI-JP 1 33074345 33074345 single base substitution C A downstream_gene_variant LIRI-JP 1 33074395 33074395 single base substitution A T downstream_gene_variant LIRI-JP 1 33075067 33075076 deletion of <=200bp TAGGACTATT - downstream_gene_variant LUSC-KR 1 33004941 33004941 single base substitution G A upstream_gene_variant LUSC-KR 1 33005632 33005632 single base substitution G A intron_variant LUSC-KR 1 33008801 33008801 single base substitution C T intron_variant LUSC-KR 1 33020767 33020767 single base substitution G T intron_variant LUSC-KR 1 33026563 33026563 single base substitution G C intron_variant LUSC-KR 1 33027738 33027738 single base substitution G T intron_variant LUSC-KR 1 33033415 33033415 single base substitution A C intron_variant LUSC-KR 1 33033421 33033421 single base substitution A C intron_variant LUSC-KR 1 33036991 33036991 single base substitution G A intron_variant LUSC-KR 1 33043187 33043187 single base substitution C T intron_variant LUSC-KR 1 33043211 33043211 single base substitution G T intron_variant LUSC-KR 1 33046542 33046542 single base substitution G C intron_variant LUSC-KR 1 33047088 33047088 single base substitution G A intron_variant LUSC-KR 1 33051717 33051717 single base substitution G A intron_variant LUSC-KR 1 33061070 33061070 single base substitution A G intron_variant LUSC-KR 1 33066299 33066299 single base substitution C A 3_prime_UTR_variant LUSC-KR 1 33068338 33068338 single base substitution G A 3_prime_UTR_variant LUSC-KR 1 33068338 33068338 single base substitution G A downstream_gene_variant LUSC-KR 1 33069410 33069410 single base substitution G A 3_prime_UTR_variant LUSC-KR 1 33069410 33069410 single base substitution G A downstream_gene_variant LUSC-US 1 33059073 33059073 single base substitution A G missense_variant N181D 541A>G LUSC-US 1 33060763 33060763 single base substitution C T missense_variant P311L 932C>T MALY-DE 1 33002112 33002112 single base substitution C T upstream_gene_variant MALY-DE 1 33010309 33010312 deletion of <=200bp AAAC - intron_variant MALY-DE 1 33013059 33013059 single base substitution A T intron_variant MALY-DE 1 33019890 33019890 insertion of <=200bp - AGATGTTC intron_variant MALY-DE 1 33041691 33041691 single base substitution T G intron_variant MALY-DE 1 33044835 33044835 single base substitution A G intron_variant MALY-DE 1 33045466 33045466 single base substitution T C intron_variant MALY-DE 1 33045537 33045537 single base substitution T A intron_variant MALY-DE 1 33057428 33057428 deletion of <=200bp T - intron_variant MALY-DE 1 33068641 33068641 single base substitution C T 3_prime_UTR_variant MALY-DE 1 33068641 33068641 single base substitution C T downstream_gene_variant MELA-AU 1 33000480 33000481 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 33000628 33000628 single base substitution A T upstream_gene_variant MELA-AU 1 33000759 33000759 single base substitution C T upstream_gene_variant MELA-AU 1 33001084 33001084 single base substitution A G upstream_gene_variant MELA-AU 1 33001094 33001094 single base substitution G A upstream_gene_variant MELA-AU 1 33001365 33001365 single base substitution C T upstream_gene_variant MELA-AU 1 33002047 33002047 single base substitution G A upstream_gene_variant MELA-AU 1 33002088 33002088 single base substitution G A upstream_gene_variant MELA-AU 1 33002548 33002549 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 33002682 33002682 single base substitution G A upstream_gene_variant MELA-AU 1 33002734 33002734 single base substitution C T upstream_gene_variant MELA-AU 1 33003075 33003075 single base substitution G A upstream_gene_variant MELA-AU 1 33003215 33003215 single base substitution G A upstream_gene_variant MELA-AU 1 33003335 33003335 single base substitution C T upstream_gene_variant MELA-AU 1 33003387 33003387 single base substitution G A upstream_gene_variant MELA-AU 1 33003665 33003665 single base substitution G A upstream_gene_variant MELA-AU 1 33006488 33006489 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 33006757 33006758 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 33006920 33006920 single base substitution C T intron_variant MELA-AU 1 33007358 33007358 single base substitution C A intron_variant MELA-AU 1 33009381 33009381 single base substitution C T intron_variant MELA-AU 1 33010172 33010172 single base substitution C T intron_variant MELA-AU 1 33010675 33010675 single base substitution C T intron_variant MELA-AU 1 33010773 33010773 single base substitution C T intron_variant MELA-AU 1 33010997 33010997 single base substitution T A intron_variant MELA-AU 1 33011300 33011300 single base substitution C T intron_variant MELA-AU 1 33011343 33011343 single base substitution T G intron_variant MELA-AU 1 33011561 33011561 single base substitution C T intron_variant MELA-AU 1 33012749 33012749 single base substitution C T intron_variant MELA-AU 1 33013064 33013064 single base substitution C T intron_variant MELA-AU 1 33013357 33013357 single base substitution C T intron_variant MELA-AU 1 33014334 33014334 single base substitution A T intron_variant MELA-AU 1 33015382 33015382 single base substitution C T intron_variant MELA-AU 1 33015428 33015428 single base substitution C T intron_variant MELA-AU 1 33015876 33015876 single base substitution C T intron_variant MELA-AU 1 33016126 33016126 single base substitution G A intron_variant MELA-AU 1 33016139 33016139 single base substitution C T intron_variant MELA-AU 1 33016249 33016249 single base substitution G A intron_variant MELA-AU 1 33016335 33016335 single base substitution G A intron_variant MELA-AU 1 33016367 33016368 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 33016526 33016526 single base substitution C T intron_variant MELA-AU 1 33017332 33017332 single base substitution C T intron_variant MELA-AU 1 33017744 33017744 single base substitution C T intron_variant MELA-AU 1 33018298 33018298 single base substitution T C intron_variant MELA-AU 1 33019100 33019100 single base substitution C T 5_prime_UTR_variant MELA-AU 1 33019481 33019481 single base substitution C T intron_variant MELA-AU 1 33019720 33019720 single base substitution C T intron_variant MELA-AU 1 33020062 33020065 deletion of <=200bp TTTA - intron_variant MELA-AU 1 33020708 33020708 single base substitution C T intron_variant MELA-AU 1 33021158 33021158 single base substitution C T intron_variant MELA-AU 1 33021262 33021263 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 33021304 33021304 single base substitution C T intron_variant MELA-AU 1 33021632 33021632 single base substitution C T intron_variant MELA-AU 1 33021716 33021716 single base substitution C T intron_variant MELA-AU 1 33021926 33021926 single base substitution C T intron_variant MELA-AU 1 33022158 33022158 single base substitution C T intron_variant MELA-AU 1 33022653 33022653 single base substitution A T intron_variant MELA-AU 1 33022700 33022700 single base substitution C T intron_variant MELA-AU 1 33023888 33023888 single base substitution C T intron_variant MELA-AU 1 33024151 33024151 single base substitution C T intron_variant MELA-AU 1 33024180 33024180 single base substitution C T intron_variant MELA-AU 1 33024192 33024192 single base substitution C T intron_variant MELA-AU 1 33024538 33024538 single base substitution C T intron_variant MELA-AU 1 33024804 33024804 single base substitution C T intron_variant MELA-AU 1 33024816 33024816 single base substitution C T intron_variant MELA-AU 1 33025336 33025336 single base substitution G A intron_variant MELA-AU 1 33025422 33025422 single base substitution T C intron_variant MELA-AU 1 33025568 33025568 single base substitution G A intron_variant MELA-AU 1 33025990 33025991 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 1 33027207 33027207 single base substitution G A intron_variant MELA-AU 1 33027209 33027209 single base substitution T C intron_variant MELA-AU 1 33027579 33027579 single base substitution C T intron_variant MELA-AU 1 33028342 33028342 single base substitution C T intron_variant MELA-AU 1 33028763 33028763 single base substitution C T intron_variant MELA-AU 1 33029033 33029033 single base substitution T G intron_variant MELA-AU 1 33029382 33029382 single base substitution C T intron_variant MELA-AU 1 33029765 33029765 single base substitution C T intron_variant MELA-AU 1 33030942 33030942 single base substitution G A intron_variant MELA-AU 1 33030971 33030971 single base substitution C T intron_variant MELA-AU 1 33031249 33031249 single base substitution C T intron_variant MELA-AU 1 33031685 33031685 single base substitution C T intron_variant MELA-AU 1 33031888 33031888 single base substitution T C intron_variant MELA-AU 1 33032292 33032292 single base substitution C T intron_variant MELA-AU 1 33032980 33032980 single base substitution A T intron_variant MELA-AU 1 33033175 33033175 single base substitution C T intron_variant MELA-AU 1 33033233 33033233 single base substitution A T intron_variant MELA-AU 1 33033883 33033883 single base substitution C T intron_variant MELA-AU 1 33034110 33034110 single base substitution C T intron_variant MELA-AU 1 33034185 33034185 single base substitution C T intron_variant MELA-AU 1 33035640 33035640 single base substitution T C intron_variant MELA-AU 1 33035863 33035863 single base substitution A G intron_variant MELA-AU 1 33036561 33036561 single base substitution C T intron_variant MELA-AU 1 33036721 33036721 single base substitution C T intron_variant MELA-AU 1 33037210 33037210 single base substitution C T intron_variant MELA-AU 1 33037286 33037286 single base substitution C T intron_variant MELA-AU 1 33038474 33038474 single base substitution T A intron_variant MELA-AU 1 33038660 33038660 single base substitution T C intron_variant MELA-AU 1 33038704 33038704 single base substitution C T intron_variant MELA-AU 1 33039521 33039521 single base substitution C T intron_variant MELA-AU 1 33039901 33039901 single base substitution C T intron_variant MELA-AU 1 33040646 33040646 single base substitution G A intron_variant MELA-AU 1 33041064 33041064 single base substitution G A intron_variant MELA-AU 1 33041583 33041583 single base substitution C T intron_variant MELA-AU 1 33041890 33041890 single base substitution C T intron_variant MELA-AU 1 33042455 33042455 single base substitution C T intron_variant MELA-AU 1 33042606 33042606 single base substitution T C intron_variant MELA-AU 1 33042918 33042918 single base substitution C T intron_variant MELA-AU 1 33043079 33043079 single base substitution G A intron_variant MELA-AU 1 33043273 33043273 single base substitution C T intron_variant MELA-AU 1 33043297 33043297 single base substitution C T intron_variant MELA-AU 1 33043714 33043714 single base substitution C T intron_variant MELA-AU 1 33044272 33044272 single base substitution C T intron_variant MELA-AU 1 33044565 33044565 single base substitution T C intron_variant MELA-AU 1 33045454 33045454 single base substitution T G intron_variant MELA-AU 1 33045634 33045634 single base substitution C T intron_variant MELA-AU 1 33046120 33046120 single base substitution C T intron_variant MELA-AU 1 33046327 33046327 single base substitution C T intron_variant MELA-AU 1 33046328 33046328 single base substitution C G intron_variant MELA-AU 1 33046535 33046535 single base substitution C T intron_variant MELA-AU 1 33047085 33047085 single base substitution T C intron_variant MELA-AU 1 33047149 33047149 single base substitution C T intron_variant MELA-AU 1 33047458 33047458 single base substitution C T intron_variant MELA-AU 1 33047819 33047819 single base substitution G A intron_variant MELA-AU 1 33048213 33048213 single base substitution C T intron_variant MELA-AU 1 33048651 33048651 single base substitution T G intron_variant MELA-AU 1 33048696 33048696 single base substitution C T intron_variant MELA-AU 1 33048954 33048954 single base substitution C T intron_variant MELA-AU 1 33049143 33049144 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 33049759 33049759 single base substitution C T intron_variant MELA-AU 1 33049769 33049769 single base substitution C T intron_variant MELA-AU 1 33049913 33049913 single base substitution C T intron_variant MELA-AU 1 33049941 33049942 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 33051360 33051360 single base substitution T G intron_variant MELA-AU 1 33051802 33051802 single base substitution C T intron_variant MELA-AU 1 33052238 33052238 single base substitution C T intron_variant MELA-AU 1 33053322 33053322 single base substitution C T intron_variant MELA-AU 1 33053796 33053796 single base substitution C T intron_variant MELA-AU 1 33055169 33055169 single base substitution G T intron_variant MELA-AU 1 33055961 33055961 single base substitution G T intron_variant MELA-AU 1 33056767 33056767 single base substitution C T intron_variant MELA-AU 1 33056921 33056921 single base substitution C T intron_variant MELA-AU 1 33057867 33057867 single base substitution C T intron_variant MELA-AU 1 33058055 33058055 single base substitution C T intron_variant MELA-AU 1 33058316 33058316 single base substitution C T intron_variant MELA-AU 1 33058351 33058351 single base substitution C T intron_variant MELA-AU 1 33059482 33059482 single base substitution C T intron_variant MELA-AU 1 33059585 33059585 single base substitution G A intron_variant MELA-AU 1 33059619 33059619 single base substitution C A intron_variant MELA-AU 1 33059946 33059946 single base substitution T C intron_variant MELA-AU 1 33059956 33059956 single base substitution C T intron_variant MELA-AU 1 33060517 33060517 single base substitution C T intron_variant MELA-AU 1 33060566 33060566 single base substitution C T intron_variant MELA-AU 1 33060722 33060722 single base substitution A T synonymous_variant L297L 891A>T MELA-AU 1 33060778 33060778 single base substitution G A missense_variant G316E 947G>A MELA-AU 1 33061059 33061059 single base substitution G A intron_variant MELA-AU 1 33061367 33061367 single base substitution C T intron_variant MELA-AU 1 33061485 33061485 single base substitution C T intron_variant MELA-AU 1 33061881 33061881 single base substitution G A intron_variant MELA-AU 1 33062427 33062427 single base substitution T C intron_variant MELA-AU 1 33062991 33062991 single base substitution C A intron_variant MELA-AU 1 33063047 33063047 single base substitution C T intron_variant MELA-AU 1 33063081 33063081 single base substitution C T intron_variant MELA-AU 1 33063864 33063864 single base substitution C T intron_variant MELA-AU 1 33064636 33064636 single base substitution C T intron_variant MELA-AU 1 33064832 33064832 single base substitution G A intron_variant MELA-AU 1 33064866 33064866 single base substitution T A intron_variant MELA-AU 1 33065022 33065022 single base substitution T G intron_variant MELA-AU 1 33065068 33065068 single base substitution C T intron_variant MELA-AU 1 33065544 33065544 single base substitution C T intron_variant MELA-AU 1 33065687 33065687 single base substitution G A intron_variant MELA-AU 1 33065687 33065687 single base substitution G A splice_acceptor_variant MELA-AU 1 33067616 33067617 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 1 33067616 33067617 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 33067653 33067653 single base substitution G A 3_prime_UTR_variant MELA-AU 1 33067653 33067653 single base substitution G A downstream_gene_variant MELA-AU 1 33068245 33068245 single base substitution G A 3_prime_UTR_variant MELA-AU 1 33068245 33068245 single base substitution G A downstream_gene_variant MELA-AU 1 33069333 33069333 single base substitution G A 3_prime_UTR_variant MELA-AU 1 33069333 33069333 single base substitution G A downstream_gene_variant MELA-AU 1 33071132 33071132 single base substitution C T 3_prime_UTR_variant MELA-AU 1 33071132 33071132 single base substitution C T downstream_gene_variant MELA-AU 1 33071293 33071293 single base substitution G A 3_prime_UTR_variant MELA-AU 1 33071293 33071293 single base substitution G A downstream_gene_variant MELA-AU 1 33072163 33072163 single base substitution G A downstream_gene_variant MELA-AU 1 33073124 33073124 single base substitution C T downstream_gene_variant MELA-AU 1 33073571 33073571 single base substitution G A downstream_gene_variant MELA-AU 1 33074201 33074201 single base substitution G A downstream_gene_variant MELA-AU 1 33075029 33075029 single base substitution C T downstream_gene_variant MELA-AU 1 33075873 33075873 single base substitution C T downstream_gene_variant MELA-AU 1 33076016 33076016 single base substitution C T downstream_gene_variant MELA-AU 1 33076245 33076245 single base substitution G A downstream_gene_variant ORCA-IN 1 33002928 33002928 single base substitution G T upstream_gene_variant ORCA-IN 1 33059028 33059028 single base substitution C G missense_variant L166V 496C>G OV-AU 1 33005098 33005098 single base substitution G T 5_prime_UTR_variant OV-AU 1 33008338 33008338 single base substitution T G intron_variant OV-AU 1 33015212 33015212 single base substitution T A intron_variant OV-AU 1 33016095 33016095 single base substitution C G intron_variant OV-AU 1 33017172 33017172 single base substitution G A intron_variant OV-AU 1 33024068 33024068 single base substitution A G intron_variant OV-AU 1 33025822 33025822 single base substitution C A intron_variant OV-AU 1 33029430 33029430 single base substitution C G intron_variant OV-AU 1 33036394 33036394 single base substitution T C intron_variant OV-AU 1 33036562 33036562 single base substitution C T intron_variant OV-AU 1 33037088 33037088 single base substitution G C intron_variant OV-AU 1 33037395 33037395 single base substitution C G intron_variant OV-AU 1 33056360 33056360 single base substitution C T intron_variant OV-AU 1 33059788 33059788 single base substitution C G intron_variant OV-AU 1 33060779 33060779 deletion of <=200bp A - frameshift_variant G316 OV-AU 1 33062112 33062112 single base substitution G T intron_variant OV-AU 1 33062973 33062973 single base substitution A G intron_variant OV-AU 1 33064290 33064290 single base substitution A T intron_variant OV-AU 1 33068436 33068436 single base substitution G C 3_prime_UTR_variant OV-AU 1 33068436 33068436 single base substitution G C downstream_gene_variant OV-AU 1 33071494 33071494 single base substitution G A 3_prime_UTR_variant OV-AU 1 33071494 33071494 single base substitution G A downstream_gene_variant OV-AU 1 33073012 33073012 single base substitution G C downstream_gene_variant PACA-AU 1 33004591 33004591 single base substitution A C upstream_gene_variant PACA-AU 1 33007936 33007936 single base substitution C G intron_variant PACA-AU 1 33013241 33013241 single base substitution A G intron_variant PACA-AU 1 33019726 33019726 single base substitution G A intron_variant PACA-AU 1 33020062 33020065 deletion of <=200bp TTTA - intron_variant PACA-AU 1 33023817 33023817 single base substitution C T intron_variant PACA-AU 1 33033342 33033342 single base substitution G A intron_variant PACA-AU 1 33037662 33037662 single base substitution G A intron_variant PACA-AU 1 33046965 33046965 single base substitution T A intron_variant PACA-AU 1 33056329 33056329 single base substitution C A intron_variant PACA-AU 1 33056730 33056730 single base substitution G T intron_variant PACA-AU 1 33057987 33057987 single base substitution C A intron_variant PACA-AU 1 33060861 33060861 single base substitution T G intron_variant PACA-AU 1 33062117 33062117 single base substitution G A intron_variant PACA-AU 1 33073390 33073390 single base substitution G A downstream_gene_variant PACA-CA 1 33003750 33003750 single base substitution A C upstream_gene_variant PACA-CA 1 33005180 33005180 single base substitution G C intron_variant PACA-CA 1 33006181 33006181 single base substitution C T intron_variant PACA-CA 1 33008154 33008154 single base substitution G A intron_variant PACA-CA 1 33008930 33008930 single base substitution C T intron_variant PACA-CA 1 33013191 33013191 single base substitution G A intron_variant PACA-CA 1 33014654 33014654 single base substitution T C intron_variant PACA-CA 1 33016509 33016509 single base substitution G C intron_variant PACA-CA 1 33028399 33028399 single base substitution G T intron_variant PACA-CA 1 33033495 33033495 single base substitution C T intron_variant PACA-CA 1 33034604 33034604 single base substitution C T intron_variant PACA-CA 1 33037501 33037501 insertion of <=200bp - T intron_variant PACA-CA 1 33038298 33038298 single base substitution T C intron_variant PACA-CA 1 33040217 33040217 single base substitution T A intron_variant PACA-CA 1 33046426 33046426 single base substitution C T intron_variant PACA-CA 1 33047545 33047545 single base substitution A G intron_variant PACA-CA 1 33052684 33052684 single base substitution A G intron_variant PACA-CA 1 33055169 33055169 single base substitution G C intron_variant PACA-CA 1 33058064 33058064 single base substitution C G intron_variant PACA-CA 1 33060830 33060830 single base substitution T C splice_region_variant PACA-CA 1 33064696 33064696 single base substitution C T intron_variant PACA-CA 1 33064801 33064801 single base substitution C T intron_variant PACA-CA 1 33065492 33065492 single base substitution T G intron_variant PACA-CA 1 33069373 33069373 insertion of <=200bp - T 3_prime_UTR_variant PACA-CA 1 33069373 33069373 insertion of <=200bp - T downstream_gene_variant PACA-CA 1 33071847 33071847 single base substitution A G downstream_gene_variant PACA-CA 1 33076372 33076372 single base substitution G T downstream_gene_variant PAEN-AU 1 33001093 33001093 single base substitution C T upstream_gene_variant PAEN-AU 1 33047093 33047093 single base substitution C A intron_variant PAEN-AU 1 33058670 33058670 single base substitution C T synonymous_variant S46S 138C>T PAEN-AU 1 33059337 33059337 single base substitution A G missense_variant T269A 805A>G PAEN-IT 1 33032825 33032825 single base substitution G A intron_variant PBCA-DE 1 33004589 33004589 single base substitution G A upstream_gene_variant PBCA-DE 1 33007142 33007142 single base substitution C T intron_variant PBCA-DE 1 33010894 33010894 single base substitution T C intron_variant PBCA-DE 1 33018909 33018909 single base substitution C T intron_variant PBCA-DE 1 33024040 33024040 insertion of <=200bp - AC intron_variant PBCA-DE 1 33024040 33024041 deletion of <=200bp AC - intron_variant PBCA-DE 1 33028322 33028322 single base substitution A G intron_variant PBCA-DE 1 33041116 33041116 single base substitution G A intron_variant PBCA-DE 1 33056984 33056985 deletion of <=200bp AT - intron_variant PBCA-DE 1 33057988 33057988 insertion of <=200bp - A intron_variant PBCA-DE 1 33059652 33059652 single base substitution G A intron_variant PBCA-DE 1 33065979 33065979 insertion of <=200bp - GAA 3_prime_UTR_variant PBCA-DE 1 33065979 33065979 insertion of <=200bp - GAA inframe_insertion E429EE PRAD-CA 1 33007774 33007774 single base substitution C T intron_variant PRAD-CA 1 33009716 33009716 single base substitution C T intron_variant PRAD-CA 1 33023132 33023132 single base substitution G A intron_variant PRAD-CA 1 33024491 33024491 single base substitution G A intron_variant PRAD-CA 1 33042481 33042481 single base substitution C T intron_variant PRAD-CA 1 33065997 33065997 single base substitution G A 3_prime_UTR_variant PRAD-CA 1 33065997 33065997 single base substitution G A missense_variant E435K 1303G>A PRAD-CA 1 33075890 33075890 single base substitution C G downstream_gene_variant PRAD-UK 1 33036593 33036593 single base substitution C T intron_variant PRAD-UK 1 33049494 33049494 single base substitution G A intron_variant PRAD-UK 1 33050867 33050867 single base substitution G A intron_variant PRAD-UK 1 33066196 33066196 deletion of <=200bp G - 3_prime_UTR_variant PRAD-US 1 33065979 33065981 deletion of <=200bp GAA - 3_prime_UTR_variant PRAD-US 1 33065979 33065981 deletion of <=200bp GAA - inframe_deletion E429 RECA-EU 1 33002401 33002401 single base substitution A T upstream_gene_variant RECA-EU 1 33003771 33003771 single base substitution G A upstream_gene_variant RECA-EU 1 33006603 33006603 single base substitution T C intron_variant RECA-EU 1 33028615 33028615 single base substitution C G intron_variant RECA-EU 1 33033415 33033415 single base substitution A C intron_variant RECA-EU 1 33039771 33039771 single base substitution G A intron_variant RECA-EU 1 33053885 33053885 single base substitution C G intron_variant RECA-EU 1 33055763 33055763 single base substitution G A intron_variant SKCA-BR 1 33001769 33001769 single base substitution A G upstream_gene_variant SKCA-BR 1 33002069 33002069 single base substitution T A upstream_gene_variant SKCA-BR 1 33002773 33002773 single base substitution A T upstream_gene_variant SKCA-BR 1 33003385 33003385 single base substitution T G upstream_gene_variant SKCA-BR 1 33004387 33004387 single base substitution A G upstream_gene_variant SKCA-BR 1 33007929 33007929 single base substitution C G intron_variant SKCA-BR 1 33009087 33009087 single base substitution C T intron_variant SKCA-BR 1 33010204 33010204 single base substitution A C intron_variant SKCA-BR 1 33016387 33016387 single base substitution G A intron_variant SKCA-BR 1 33016462 33016462 single base substitution G A intron_variant SKCA-BR 1 33019436 33019436 single base substitution A G intron_variant SKCA-BR 1 33023095 33023095 single base substitution C T intron_variant SKCA-BR 1 33026212 33026212 single base substitution C T intron_variant SKCA-BR 1 33028337 33028337 single base substitution C T intron_variant SKCA-BR 1 33031802 33031802 insertion of <=200bp - CA intron_variant SKCA-BR 1 33033419 33033419 insertion of <=200bp - ACAAAC intron_variant SKCA-BR 1 33033419 33033419 single base substitution A C intron_variant SKCA-BR 1 33033421 33033421 single base substitution A C intron_variant SKCA-BR 1 33033426 33033426 insertion of <=200bp - AAAAAC intron_variant SKCA-BR 1 33035380 33035380 insertion of <=200bp - CT intron_variant SKCA-BR 1 33037275 33037275 single base substitution A G intron_variant SKCA-BR 1 33040827 33040827 insertion of <=200bp - CT intron_variant SKCA-BR 1 33041581 33041581 single base substitution C T intron_variant SKCA-BR 1 33043832 33043832 insertion of <=200bp - AT intron_variant SKCA-BR 1 33049327 33049327 single base substitution G A intron_variant SKCA-BR 1 33051352 33051355 deletion of <=200bp CCAG - intron_variant SKCA-BR 1 33054789 33054789 single base substitution T C intron_variant SKCA-BR 1 33059590 33059590 single base substitution C T intron_variant SKCA-BR 1 33059801 33059802 deletion of <=200bp AC - intron_variant SKCA-BR 1 33060573 33060573 single base substitution C T intron_variant SKCA-BR 1 33063509 33063510 deletion of <=200bp AT - intron_variant SKCA-BR 1 33073595 33073595 single base substitution C T downstream_gene_variant SKCM-US 1 33058852 33058852 single base substitution T C missense_variant M107T 320T>C SKCM-US 1 33060732 33060732 single base substitution C T missense_variant L301F 901C>T SKCM-US 1 33060754 33060754 single base substitution G A missense_variant R308K 923G>A SKCM-US 1 33065969 33065969 single base substitution T C 3_prime_UTR_variant SKCM-US 1 33065969 33065969 single base substitution T C synonymous_variant V425V 1275T>C STAD-US 1 33059046 33059046 single base substitution A G missense_variant T172A 514A>G STAD-US 1 33059154 33059154 deletion of <=200bp A - frameshift_variant K208 STAD-US 1 33059218 33059218 single base substitution G A missense_variant R229Q 686G>A STAD-US 1 33060694 33060694 single base substitution C A missense_variant T288K 863C>A STAD-US 1 33060697 33060697 single base substitution A C missense_variant H289P 866A>C STAD-US 1 33066006 33066006 single base substitution C T 3_prime_UTR_variant STAD-US 1 33066006 33066006 single base substitution C T missense_variant P438S 1312C>T UCEC-US 1 33058578 33058578 single base substitution G A missense_variant E16K 46G>A UCEC-US 1 33058634 33058634 single base substitution C A synonymous_variant V34V 102C>A UCEC-US 1 33060819 33060819 single base substitution C T stop_gained R330* 988C>T UCEC-US 1 33065775 33065775 single base substitution C T intron_variant UCEC-US 1 33065775 33065775 single base substitution C T missense_variant R361C 1081C>T UCEC-US 1 33065776 33065776 single base substitution G A intron_variant UCEC-US 1 33065776 33065776 single base substitution G A missense_variant R361H 1082G>A UCEC-US 1 33065937 33065937 single base substitution G A 3_prime_UTR_variant UCEC-US 1 33065937 33065937 single base substitution G A missense_variant D415N 1243G>A UCEC-US 1 33065978 33065978 insertion of <=200bp - GAA 3_prime_UTR_variant UCEC-US 1 33065978 33065978 insertion of <=200bp - GAA disruptive_inframe_insertion S428RN

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand Pat_26_A COSM5846403 c.1147G>A p.A383T Substitution - Missense 1:32600240-32600240 + TCGA-DS-A0VL-01 COSM459301 c.1056G>A p.G352G Substitution - coding silent 1:32600149-32600149 + 345973 COSM2078129 c.573G>T p.K191N Substitution - Missense 1:32593504-32593504 + TCGA-FJ-A3Z7-01 COSM3789890 c.49C>T p.Q17* Substitution - Nonsense 1:32592980-32592980 + TCGA-AX-A0J0-01 COSM908315 c.46G>A p.E16K Substitution - Missense 1:32592977-32592977 + TCGA-BS-A0UV-01 COSM908317 c.988C>T p.R330* Substitution - Nonsense 1:32595218-32595218 + TCGA-FP-A4BE-01 COSM4031496 c.686G>A p.R229Q Substitution - Missense 1:32593617-32593617 + TCGA-GN-A266-06 COSM3488179 c.320T>C p.M107T Substitution - Missense 1:32593251-32593251 + TCGA-D9-A1JW-06 COSM3865321 c.901C>T p.L301F Substitution - Missense 1:32595131-32595131 + TCGA-F4-6570-01 COSM1341839 c.685C>T p.R229* Substitution - Nonsense 1:32593616-32593616 + pfg017T COSM1639843 c.868_870delGTG p.V291delV Deletion - In frame 1:32595098-32595100 + TCGA-AP-A051-01 COSM908318 c.1081C>T p.R361C Substitution - Missense 1:32600174-32600174 + TCGA-AG-A014-01 COSM290087 c.1215G>A p.E405E Substitution - coding silent 1:32600308-32600308 + RKO COSM2078127 c.139G>T p.G47C Substitution - Missense 1:32593070-32593070 + CAL33 COSM2078130 c.613G>C p.E205Q Substitution - Missense 1:32593544-32593544 + P158 COSM1737744 c.890T>C p.L297P Substitution - Missense 1:32595120-32595120 + SNUH_G73_S1 COSM4415057 c.440G>A p.R147H Substitution - Missense 1:32593371-32593371 + 2T COSM3711022 c.496C>G p.L166V Substitution - Missense 1:32593427-32593427 + OSCC-GB_00020111 COSM3711022 c.496C>G p.L166V Substitution - Missense 1:32593427-32593427 + WA46 COSM238463 c.231A>G p.T77T Substitution - coding silent 1:32593162-32593162 + SNU-175 COSM2078131 c.841C>T p.R281* Substitution - Nonsense 1:32595071-32595071 + TCGA-G2-A2EJ-01 COSM1296293 c.639G>C p.L213F Substitution - Missense 1:32593570-32593570 + 40M COSM5587021 c.781C>T p.Q261* Substitution - Nonsense 1:32593712-32593712 + Pat_01_B COSM5205753 c.1285_1287delGAA p.E433delE Deletion - In frame 1:32600378-32600380 + 46M COSM5589394 c.107A>C p.K36T Substitution - Missense 1:32593038-32593038 + TCGA-AP-A059-01 COSM908320 c.1243G>A p.D415N Substitution - Missense 1:32600336-32600336 + TCGA-AX-A05Z-01 COSM908319 c.1082G>A p.R361H Substitution - Missense 1:32600175-32600175 + 2521249 COSM5887659 c.313C>A p.L105I Substitution - Missense 1:32593244-32593244 + 2492730 COSM5728427 c.645G>A p.L215L Substitution - coding silent 1:32593576-32593576 + TCGA-AN-A0AK-01 COSM5205753 c.1285_1287delGAA p.E433delE Deletion - In frame 1:32600378-32600380 + TCGA-FS-A1ZB-06 COSM3488180 c.923G>A p.R308K Substitution - Missense 1:32595153-32595153 + CSCC-62-T COSM4450855 c.900delC p.L301fs*22 Deletion - Frameshift 1:32595130-32595130 + TCGA-AC-A23H-01 COSM3804971 c.1220G>A p.R407K Substitution - Missense 1:32600313-32600313 + T3262 COSM4742226 c.716A>G p.H239R Substitution - Missense 1:32593647-32593647 + TCGA-BR-8680-01 COSM4031499 c.1312C>T p.P438S Substitution - Missense 1:32600405-32600405 + 587376 COSM1233175 c.314T>G p.L105R Substitution - Missense 1:32593245-32593245 + TCGA-AP-A059-01 COSM908316 c.102C>A p.V34V Substitution - coding silent 1:32593033-32593033 + TCGA-BR-4361-01 COSM4031498 c.866A>C p.H289P Substitution - Missense 1:32595096-32595096 + PD13625a COSM5780250 c.313C>T p.L105F Substitution - Missense 1:32593244-32593244 + Pat_05_B COSM5846402 c.215C>T p.S72F Substitution - Missense 1:32593146-32593146 + CPCG0040-F1 COSM4880128 c.1303G>A p.E435K Substitution - Missense 1:32600396-32600396 + 019T COSM1727877 c.1141T>G p.L381V Substitution - Missense 1:32600234-32600234 + 61 COSM5735370 c.439C>T p.R147C Substitution - Missense 1:32593370-32593370 + PD13753a COSM5799999 c.1210G>C p.D404H Substitution - Missense 1:32600303-32600303 + 1N60-VS-1T60 COSM4977629 c.967G>A p.D323N Substitution - Missense 1:32595197-32595197 + C84 COSM4620002 c.53G>A p.R18H Substitution - Missense 1:32592984-32592984 + TCGA-66-2788-01 COSM681097 c.541A>G p.N181D Substitution - Missense 1:32593472-32593472 + PCSI_0083_Pa_X COSM3377122 c.993+6T>C p.? Unknown 1:32595229-32595229 + TCGA-B5-A11G-01 COSM908321 c.1284_1285insGAA p.E433_K434insE Insertion - In frame 1:32600377-32600378 + 8051731 COSM4135614 c.805A>G p.T269A Substitution - Missense 1:32593736-32593736 + RK225_C01 COSM4944765 c.239T>C p.L80S Substitution - Missense 1:32593170-32593170 + YUPAER COSM5380662 c.25C>T p.H9Y Substitution - Missense 1:32592956-32592956 + 8057643 COSM4135613 c.138C>T p.S46S Substitution - coding silent 1:32593069-32593069 + Pat_05_A COSM5846402 c.215C>T p.S72F Substitution - Missense 1:32593146-32593146 + TCGA-22-5492-01 COSM681096 c.932C>T p.P311L Substitution - Missense 1:32595162-32595162 + TCGA-AA-3492-01 COSM1341838 c.15_17delTCA p.H6delH Deletion - In frame 1:32592946-32592948 + TCGA-D7-8572-01 COSM4031497 c.863C>A p.T288K Substitution - Missense 1:32595093-32595093 + TCGA-DS-A0VM-01 COSM459302 c.246C>T p.F82F Substitution - coding silent 1:32593177-32593177 + CSCC-44-T COSM4463670 c.12C>T p.S4S Substitution - coding silent 1:32592943-32592943 + CSCC-27-T COSM908317 c.988C>T p.R330* Substitution - Nonsense 1:32595218-32595218 + TCGA-DA-A1HY-06 COSM3488181 c.1275T>C p.V425V Substitution - coding silent 1:32600368-32600368 + TCGA-BR-8680-01 COSM4031495 c.514A>G p.T172A Substitution - Missense 1:32593445-32593445 + 2492729 COSM5726313 c.698C>T p.T233I Substitution - Missense 1:32593629-32593629 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.546479 1p35.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E405A c.1214A>C 1 33065908 HNSC A G Missense p.N181D c.541A>G 1 33059073 LUSC C T Missense p.L301F c.901C>T 1 33060732 CM C T Missense p.P311L c.932C>T 1 33060763 LUSC C T Missense p.S255F c.764C>T 1 33059296 HNSC C T Missense p.S85F c.254C>T 1 33058786 BRCA GAA - InFrameDeletion p.E433delE c.1297_1299delGAA 1 33065979 LUAD GAA - InFrameDeletion p.E433delE c.1297_1299delGAA 1 33065979 PRAD - GAA MultiAAMissense p.E429delinsGK c.1285_1286insGAA 1 33065979 UCEC G A Missense p.E403K c.1207G>A 1 33065901 HNSC G A Missense p.R308K c.923G>A 1 33060754 CM G A Synonymous p.E405E c.1215G>A 1 33065909 COREAD G C Missense p.G263R c.787G>C 1 33059319 LUAD G C Missense p.L213F c.639G>C 1 33059171 BLCA GG AA Missense p.R279Q c.836_837delinsAA 1 33060667 CM GTG - InFrameDeletion p.V291delV c.871_873delGTG 1 33060699 STAD T C Synonymous p.V425V c.1275T>C 1 33065969 CM