Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 23 48934319 48934319 + Missense_Mutation SNP C C T TCGA-OR-A5JA-01A-11D-A29I-10 TCGA-OR-A5JA-10A-01D-A29L-10 g.chrX:48934319C>T c.326G>A c.(325-327)cGc>cAc p.R109H ACC 23 48935337 48935337 + Missense_Mutation SNP C C T TCGA-OR-A5K9-01A-11D-A29I-10 TCGA-OR-A5K9-11A-11D-A29L-10 g.chrX:48935337C>T c.200G>A c.(199-201)gGc>gAc p.G67D ACC 23 48935536 48935536 + Silent SNP G G A TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chrX:48935536G>A c.90C>T c.(88-90)cgC>cgT p.R30R BLCA 23 48932855 48932855 + Missense_Mutation SNP C C T TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chrX:48932855C>T c.913G>A c.(913-915)Gag>Aag p.E305K BLCA 23 48932868 48932868 + Silent SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chrX:48932868G>A c.900C>T c.(898-900)ttC>ttT p.F300F BLCA 23 48933037 48933037 + Silent SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 g.chrX:48933037G>C c.813C>G c.(811-813)ctC>ctG p.L271L BLCA 23 48933234 48933234 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 g.chrX:48933234C>A c.695G>T c.(694-696)cGc>cTc p.R232L BLCA 23 48933237 48933237 + Missense_Mutation SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 g.chrX:48933237A>T c.692T>A c.(691-693)cTg>cAg p.L231Q BLCA 23 48933303 48933303 + Nonsense_Mutation SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chrX:48933303G>C c.626C>G c.(625-627)tCa>tGa p.S209* BLCA 23 48933319 48933319 + Missense_Mutation SNP C C A TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chrX:48933319C>A c.610G>T c.(610-612)Ggc>Tgc p.G204C BLCA 23 48933320 48933320 + Silent SNP T T G TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chrX:48933320T>G c.609A>C c.(607-609)ccA>ccC p.P203P BLCA 23 48933376 48933376 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 g.chrX:48933376G>C c.553C>G c.(553-555)Cca>Gca p.P185A BRCA 23 48932526 48932526 + Missense_Mutation SNP T T C TCGA-B6-A0X1-01A-11D-A10G-09 TCGA-B6-A0X1-10A-01D-A117-09 g.chrX:48932526T>C c.1019A>G c.(1018-1020)gAt>gGt p.D340G BRCA 23 48934351 48934351 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chrX:48934351C>T c.294G>A c.(292-294)gaG>gaA p.E98E BRCA 23 48935539 48935539 + Silent SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chrX:48935539C>G c.87G>C c.(85-87)gtG>gtC p.V29V CESC 23 48932470 48932470 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chrX:48932470C>T c.1075G>A c.(1075-1077)Gac>Aac p.D359N CESC 23 48932479 48932479 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chrX:48932479C>T c.1066G>A c.(1066-1068)Gat>Aat p.D356N CESC 23 48932841 48932841 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 g.chrX:48932841G>C c.927C>G c.(925-927)atC>atG p.I309M CESC 23 48934313 48934313 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chrX:48934313C>T c.332G>A c.(331-333)cGc>cAc p.R111H CESC 23 48935736 48935736 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chrX:48935736G>A c.19C>T c.(19-21)Cga>Tga p.R7* COAD 23 48932827 48932827 + Missense_Mutation SNP C C T TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chrX:48932827C>T c.941G>A c.(940-942)cGc>cAc p.R314H COAD 23 48932852 48932852 + Missense_Mutation SNP A A G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:48932852A>G c.916T>C c.(916-918)Tca>Cca p.S306P COAD 23 48933108 48933108 + Missense_Mutation SNP C C A TCGA-AA-3534-01A-01W-0831-10 TCGA-AA-3534-10A-01W-0831-10 g.chrX:48933108C>A c.742G>T c.(742-744)Gac>Tac p.D248Y COAD 23 48933276 48933276 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chrX:48933276C>T c.653G>A c.(652-654)cGc>cAc p.R218H COAD 23 48933302 48933302 + Silent SNP T T C TCGA-CM-6169-01A-11D-1650-10 TCGA-CM-6169-10A-01D-1650-10 g.chrX:48933302T>C c.627A>G c.(625-627)tcA>tcG p.S209S COAD 23 48934128 48934128 + Nonsense_Mutation SNP G G A TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chrX:48934128G>A c.397C>T c.(397-399)Cga>Tga p.R133* COAD 23 48935404 48935404 + Missense_Mutation SNP G G T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chrX:48935404G>T c.133C>A c.(133-135)Cac>Aac p.H45N COADREAD 23 48932827 48932827 + Missense_Mutation SNP C C T TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chrX:48932827C>T c.941G>A c.(940-942)cGc>cAc p.R314H COADREAD 23 48932852 48932852 + Missense_Mutation SNP A A G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:48932852A>G c.916T>C c.(916-918)Tca>Cca p.S306P COADREAD 23 48933108 48933108 + Missense_Mutation SNP C C A TCGA-AA-3534-01A-01W-0831-10 TCGA-AA-3534-10A-01W-0831-10 g.chrX:48933108C>A c.742G>T c.(742-744)Gac>Tac p.D248Y COADREAD 23 48933276 48933276 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chrX:48933276C>T c.653G>A c.(652-654)cGc>cAc p.R218H COADREAD 23 48933302 48933302 + Silent SNP T T C TCGA-CM-6169-01A-11D-1650-10 TCGA-CM-6169-10A-01D-1650-10 g.chrX:48933302T>C c.627A>G c.(625-627)tcA>tcG p.S209S COADREAD 23 48934128 48934128 + Nonsense_Mutation SNP G G A TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chrX:48934128G>A c.397C>T c.(397-399)Cga>Tga p.R133* COADREAD 23 48935404 48935404 + Missense_Mutation SNP G G T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chrX:48935404G>T c.133C>A c.(133-135)Cac>Aac p.H45N ESCA 23 48935401 48935401 + Nonsense_Mutation SNP C C A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 g.chrX:48935401C>A c.136G>T c.(136-138)Gag>Tag p.E46* GBM 23 48935362 48935362 + Missense_Mutation SNP G G A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 g.chrX:48935362G>A c.175C>T c.(175-177)Cgc>Tgc p.R59C GBMLGG 23 48933405 48933405 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:48933405G>A c.524C>T c.(523-525)gCg>gTg p.A175V GBMLGG 23 48935362 48935362 + Missense_Mutation SNP G G A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 g.chrX:48935362G>A c.175C>T c.(175-177)Cgc>Tgc p.R59C HNSC 23 48933527 48933527 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 g.chrX:48933527C>G c.514G>C c.(514-516)Gtg>Ctg p.V172L HNSC 23 48934116 48934116 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 g.chrX:48934116C>G c.409G>C c.(409-411)Gag>Cag p.E137Q HNSC 23 48935372 48935372 + Missense_Mutation SNP C C A TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chrX:48935372C>A c.165G>T c.(163-165)gaG>gaT p.E55D LGG 23 48933405 48933405 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:48933405G>A c.524C>T c.(523-525)gCg>gTg p.A175V LIHC 23 48932926 48932926 + Missense_Mutation SNP C C A TCGA-2Y-A9HA-01A-11D-A38X-10 TCGA-2Y-A9HA-10A-01D-A38X-10 g.chrX:48932926C>A c.842G>T c.(841-843)gGc>gTc p.G281V LIHC 23 48933031 48933031 + Silent SNP G G A TCGA-DD-A73C-01A-12D-A33K-10 TCGA-DD-A73C-10A-01D-A33K-10 g.chrX:48933031G>A c.819C>T c.(817-819)cgC>cgT p.R273R LIHC 23 48934306 48934306 + Silent SNP G G A TCGA-DD-AA3A-01A-11D-A36X-10 TCGA-DD-AA3A-10A-01D-A370-10 g.chrX:48934306G>A c.339C>T c.(337-339)gaC>gaT p.D113D LIHC 23 48935320 48935320 + Nonsense_Mutation SNP T T A TCGA-DD-AACI-01A-11D-A40R-10 TCGA-DD-AACI-10A-01D-A40U-10 g.chrX:48935320T>A c.217A>T c.(217-219)Aag>Tag p.K73* LUAD 23 48933083 48933083 + Missense_Mutation SNP C C A TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chrX:48933083C>A c.767G>T c.(766-768)aGt>aTt p.S256I LUAD 23 48933220 48933220 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 g.chrX:48933220G>C c.709C>G c.(709-711)Cct>Gct p.P237A LUAD 23 48933296 48933296 + Silent SNP G G T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 g.chrX:48933296G>T c.633C>A c.(631-633)tcC>tcA p.S211S LUAD 23 48933333 48933333 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 g.chrX:48933333G>A c.596C>T c.(595-597)tCt>tTt p.S199F LUAD 23 48933404 48933404 + Silent SNP C C A TCGA-55-7995-01A-11D-2184-08 TCGA-55-7995-10A-01D-2184-08 g.chrX:48933404C>A c.525G>T c.(523-525)gcG>gcT p.A175A LUAD 23 48934359 48934359 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chrX:48934359C>A c.286G>T c.(286-288)Gtg>Ttg p.V96L LUSC 23 48932917 48932917 + Missense_Mutation SNP C C T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 g.chrX:48932917C>T c.851G>A c.(850-852)gGg>gAg p.G284E LUSC 23 48933067 48933067 + Silent SNP G G T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 g.chrX:48933067G>T c.783C>A c.(781-783)gtC>gtA p.V261V LUSC 23 48935748 48935748 + Nonsense_Mutation SNP G G A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 g.chrX:48935748G>A c.7C>T c.(7-9)Caa>Taa p.Q3* OV 23 48933303 48933303 + Nonsense_Mutation SNP G G T TCGA-13-1496-01A-01W-0545-08 TCGA-13-1496-10A-01W-0545-08 g.chrX:48933303G>T c.626C>A c.(625-627)tCa>tAa p.S209* PAAD 23 48932556 48932556 + Missense_Mutation SNP C C T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 g.chrX:48932556C>T c.989G>A c.(988-990)gGg>gAg p.G330E PAAD 23 48932560 48932560 + Missense_Mutation SNP C C G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 g.chrX:48932560C>G c.985G>C c.(985-987)Gat>Cat p.D329H SARC 23 48932827 48932827 + Missense_Mutation SNP C C T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 g.chrX:48932827C>T c.941G>A c.(940-942)cGc>cAc p.R314H SKCM 23 48934105 48934105 + Silent SNP G G A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chrX:48934105G>A c.420C>T c.(418-420)acC>acT p.T140T SKCM 23 48934105 48934105 + Silent SNP G G A TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chrX:48934105G>A c.420C>T c.(418-420)acC>acT p.T140T

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation AML-US X 48933273 48933273 single base substitution A G downstream_gene_variant AML-US X 48933273 48933273 single base substitution A G exon_variant AML-US X 48933273 48933273 single base substitution A G missense_variant L117P 350T>C AML-US X 48933273 48933273 single base substitution A G missense_variant L145P 434T>C AML-US X 48933273 48933273 single base substitution A G missense_variant L184P 551T>C AML-US X 48933273 48933273 single base substitution A G missense_variant L219P 656T>C AML-US X 48933273 48933273 single base substitution A G missense_variant L220P 659T>C AML-US X 48933273 48933273 single base substitution A G missense_variant L230P 689T>C AML-US X 48933273 48933273 single base substitution A G missense_variant L47P 140T>C AML-US X 48933273 48933273 single base substitution A G upstream_gene_variant BLCA-CN X 48932888 48932888 single base substitution G A downstream_gene_variant BLCA-CN X 48932888 48932888 single base substitution G A exon_variant BLCA-CN X 48932888 48932888 single base substitution G A intron_variant BLCA-CN X 48932888 48932888 single base substitution G A stop_gained Q18* 52C>T BLCA-CN X 48932888 48932888 single base substitution G A stop_gained Q220* 658C>T BLCA-CN X 48932888 48932888 single base substitution G A stop_gained Q259* 775C>T BLCA-CN X 48932888 48932888 single base substitution G A stop_gained Q280* 838C>T BLCA-CN X 48932888 48932888 single base substitution G A stop_gained Q294* 880C>T BLCA-CN X 48932888 48932888 single base substitution G A stop_gained Q295* 883C>T BLCA-CN X 48932888 48932888 single base substitution G A stop_gained Q305* 913C>T BLCA-CN X 48933303 48933303 single base substitution G T downstream_gene_variant BLCA-CN X 48933303 48933303 single base substitution G T exon_variant BLCA-CN X 48933303 48933303 single base substitution G T stop_gained S107* 320C>A BLCA-CN X 48933303 48933303 single base substitution G T stop_gained S135* 404C>A BLCA-CN X 48933303 48933303 single base substitution G T stop_gained S142* 425C>A BLCA-CN X 48933303 48933303 single base substitution G T stop_gained S174* 521C>A BLCA-CN X 48933303 48933303 single base substitution G T stop_gained S209* 626C>A BLCA-CN X 48933303 48933303 single base substitution G T stop_gained S210* 629C>A BLCA-CN X 48933303 48933303 single base substitution G T stop_gained S220* 659C>A BLCA-CN X 48933303 48933303 single base substitution G T stop_gained S37* 110C>A BLCA-CN X 48933303 48933303 single base substitution G T upstream_gene_variant BLCA-US X 48925201 48925201 single base substitution C T downstream_gene_variant BLCA-US X 48925325 48925325 single base substitution G C downstream_gene_variant BLCA-US X 48932868 48932868 single base substitution G A downstream_gene_variant BLCA-US X 48932868 48932868 single base substitution G A exon_variant BLCA-US X 48932868 48932868 single base substitution G A intron_variant BLCA-US X 48932868 48932868 single base substitution G A synonymous_variant F226F 678C>T BLCA-US X 48932868 48932868 single base substitution G A synonymous_variant F24F 72C>T BLCA-US X 48932868 48932868 single base substitution G A synonymous_variant F265F 795C>T BLCA-US X 48932868 48932868 single base substitution G A synonymous_variant F286F 858C>T BLCA-US X 48932868 48932868 single base substitution G A synonymous_variant F300F 900C>T BLCA-US X 48932868 48932868 single base substitution G A synonymous_variant F301F 903C>T BLCA-US X 48932868 48932868 single base substitution G A synonymous_variant F311F 933C>T BLCA-US X 48933234 48933234 single base substitution C A downstream_gene_variant BLCA-US X 48933234 48933234 single base substitution C A exon_variant BLCA-US X 48933234 48933234 single base substitution C A missense_variant R130L 389G>T BLCA-US X 48933234 48933234 single base substitution C A missense_variant R158L 473G>T BLCA-US X 48933234 48933234 single base substitution C A missense_variant R197L 590G>T BLCA-US X 48933234 48933234 single base substitution C A missense_variant R232L 695G>T BLCA-US X 48933234 48933234 single base substitution C A missense_variant R233L 698G>T BLCA-US X 48933234 48933234 single base substitution C A missense_variant R243L 728G>T BLCA-US X 48933234 48933234 single base substitution C A missense_variant R60L 179G>T BLCA-US X 48933234 48933234 single base substitution C A upstream_gene_variant BLCA-US X 48933303 48933303 single base substitution G C downstream_gene_variant BLCA-US X 48933303 48933303 single base substitution G C exon_variant BLCA-US X 48933303 48933303 single base substitution G C stop_gained S107* 320C>G BLCA-US X 48933303 48933303 single base substitution G C stop_gained S135* 404C>G BLCA-US X 48933303 48933303 single base substitution G C stop_gained S142* 425C>G BLCA-US X 48933303 48933303 single base substitution G C stop_gained S174* 521C>G BLCA-US X 48933303 48933303 single base substitution G C stop_gained S209* 626C>G BLCA-US X 48933303 48933303 single base substitution G C stop_gained S210* 629C>G BLCA-US X 48933303 48933303 single base substitution G C stop_gained S220* 659C>G BLCA-US X 48933303 48933303 single base substitution G C stop_gained S37* 110C>G BLCA-US X 48933303 48933303 single base substitution G C upstream_gene_variant BRCA-EU X 48924938 48924938 single base substitution G A downstream_gene_variant BRCA-EU X 48926113 48926113 single base substitution G C downstream_gene_variant BRCA-EU X 48926949 48926949 single base substitution G T downstream_gene_variant BRCA-EU X 48928095 48928095 single base substitution G A downstream_gene_variant BRCA-EU X 48928531 48928531 single base substitution A T downstream_gene_variant BRCA-EU X 48929772 48929772 single base substitution G A downstream_gene_variant BRCA-EU X 48929772 48929772 single base substitution G A intron_variant BRCA-EU X 48931574 48931574 single base substitution G T downstream_gene_variant BRCA-EU X 48931574 48931574 single base substitution G T intron_variant BRCA-EU X 48931916 48931916 single base substitution C G downstream_gene_variant BRCA-EU X 48931916 48931916 single base substitution C G intron_variant BRCA-EU X 48933157 48933157 single base substitution T C downstream_gene_variant BRCA-EU X 48933157 48933157 single base substitution T C intron_variant BRCA-EU X 48933157 48933157 single base substitution T C upstream_gene_variant BRCA-EU X 48933859 48933859 single base substitution C T downstream_gene_variant BRCA-EU X 48933859 48933859 single base substitution C T exon_variant BRCA-EU X 48933859 48933859 single base substitution C T intron_variant BRCA-EU X 48933859 48933859 single base substitution C T upstream_gene_variant BRCA-EU X 48935913 48935913 single base substitution G A downstream_gene_variant BRCA-EU X 48935913 48935913 single base substitution G A intron_variant BRCA-EU X 48935913 48935913 single base substitution G A upstream_gene_variant BRCA-EU X 48935935 48935935 single base substitution C G downstream_gene_variant BRCA-EU X 48935935 48935935 single base substitution C G intron_variant BRCA-EU X 48935935 48935935 single base substitution C G upstream_gene_variant BRCA-EU X 48936181 48936181 insertion of <=200bp - T downstream_gene_variant BRCA-EU X 48936181 48936181 insertion of <=200bp - T intron_variant BRCA-EU X 48936181 48936181 insertion of <=200bp - T upstream_gene_variant BRCA-EU X 48936857 48936857 single base substitution G A downstream_gene_variant BRCA-EU X 48936857 48936857 single base substitution G A intron_variant BRCA-EU X 48936857 48936857 single base substitution G A upstream_gene_variant BRCA-EU X 48936966 48936966 single base substitution C T downstream_gene_variant BRCA-EU X 48936966 48936966 single base substitution C T intron_variant BRCA-EU X 48936966 48936966 single base substitution C T upstream_gene_variant BRCA-EU X 48937658 48937658 single base substitution G T 5_prime_UTR_variant BRCA-EU X 48937658 48937658 single base substitution G T downstream_gene_variant BRCA-EU X 48937658 48937658 single base substitution G T exon_variant BRCA-EU X 48937658 48937658 single base substitution G T intron_variant BRCA-EU X 48937658 48937658 single base substitution G T upstream_gene_variant BRCA-EU X 48938315 48938315 single base substitution T C intron_variant BRCA-EU X 48938315 48938315 single base substitution T C upstream_gene_variant BRCA-EU X 48939807 48939807 single base substitution T G intron_variant BRCA-EU X 48939807 48939807 single base substitution T G upstream_gene_variant BRCA-EU X 48940649 48940649 single base substitution C G intron_variant BRCA-EU X 48940649 48940649 single base substitution C G upstream_gene_variant BRCA-EU X 48943440 48943440 single base substitution T A intron_variant BRCA-EU X 48944249 48944249 single base substitution C T intron_variant BRCA-EU X 48944289 48944289 single base substitution G A intron_variant BRCA-EU X 48944393 48944393 single base substitution G A intron_variant BRCA-EU X 48944747 48944747 single base substitution T A intron_variant BRCA-EU X 48945342 48945342 single base substitution C G intron_variant BRCA-EU X 48946915 48946915 single base substitution G T intron_variant BRCA-EU X 48948601 48948601 single base substitution C T intron_variant BRCA-EU X 48948610 48948610 single base substitution G A intron_variant BRCA-EU X 48948762 48948762 single base substitution A T intron_variant BRCA-EU X 48949306 48949306 single base substitution C G intron_variant BRCA-EU X 48949324 48949324 single base substitution C T intron_variant BRCA-EU X 48949877 48949877 single base substitution G T intron_variant BRCA-EU X 48949979 48949979 single base substitution T A intron_variant BRCA-EU X 48950896 48950896 single base substitution C T intron_variant BRCA-EU X 48951336 48951336 single base substitution G A intron_variant BRCA-EU X 48951416 48951416 single base substitution A T intron_variant BRCA-EU X 48951499 48951499 single base substitution C T intron_variant BRCA-EU X 48951851 48951851 single base substitution C T intron_variant BRCA-EU X 48952919 48952919 single base substitution A G intron_variant BRCA-EU X 48953902 48953902 single base substitution C G intron_variant BRCA-EU X 48953904 48953904 single base substitution C T intron_variant BRCA-EU X 48954145 48954145 single base substitution T A intron_variant BRCA-EU X 48954198 48954198 single base substitution T A intron_variant BRCA-EU X 48954880 48954880 single base substitution G A intron_variant BRCA-EU X 48955154 48955154 single base substitution G A intron_variant BRCA-EU X 48956751 48956789 multiple base substitution (>=2bp and <=200bp) ACACACAGTGTTTCTTGGGACCAGACCTGATATCAACGT AACACACAG intron_variant BRCA-EU X 48957656 48957656 single base substitution G C exon_variant BRCA-EU X 48957656 48957656 single base substitution G C intron_variant BRCA-EU X 48957742 48957742 single base substitution G A exon_variant BRCA-EU X 48957742 48957742 single base substitution G A intron_variant BRCA-EU X 48958841 48958841 single base substitution C A upstream_gene_variant BRCA-EU X 48958930 48958930 single base substitution G A upstream_gene_variant BRCA-EU X 48959299 48959299 single base substitution G A upstream_gene_variant BRCA-EU X 48959357 48959357 single base substitution C T upstream_gene_variant BRCA-EU X 48960534 48960534 single base substitution A G upstream_gene_variant BRCA-EU X 48960851 48960851 single base substitution T C upstream_gene_variant BRCA-EU X 48962111 48962111 single base substitution G A upstream_gene_variant BRCA-FR X 48924938 48924938 single base substitution G A downstream_gene_variant BRCA-FR X 48926113 48926113 single base substitution G C downstream_gene_variant BRCA-FR X 48931568 48931568 single base substitution G T downstream_gene_variant BRCA-FR X 48931568 48931568 single base substitution G T intron_variant BRCA-FR X 48933859 48933859 single base substitution C T downstream_gene_variant BRCA-FR X 48933859 48933859 single base substitution C T exon_variant BRCA-FR X 48933859 48933859 single base substitution C T intron_variant BRCA-FR X 48933859 48933859 single base substitution C T upstream_gene_variant BRCA-FR X 48937486 48937486 single base substitution C T 5_prime_UTR_variant BRCA-FR X 48937486 48937486 single base substitution C T downstream_gene_variant BRCA-FR X 48937486 48937486 single base substitution C T exon_variant BRCA-FR X 48937486 48937486 single base substitution C T intron_variant BRCA-FR X 48937486 48937486 single base substitution C T upstream_gene_variant BRCA-FR X 48939807 48939807 single base substitution T G intron_variant BRCA-FR X 48939807 48939807 single base substitution T G upstream_gene_variant BRCA-FR X 48944747 48944747 single base substitution T A intron_variant BRCA-FR X 48946915 48946915 single base substitution G T intron_variant BRCA-FR X 48947103 48947103 single base substitution G A intron_variant BRCA-FR X 48949324 48949324 single base substitution C T intron_variant BRCA-FR X 48949877 48949877 single base substitution G T intron_variant BRCA-FR X 48951449 48951449 single base substitution G A intron_variant BRCA-FR X 48951851 48951851 single base substitution C T intron_variant BRCA-FR X 48954695 48954695 single base substitution C G intron_variant BRCA-FR X 48958841 48958841 single base substitution C A upstream_gene_variant BRCA-UK X 48932832 48932832 single base substitution G A downstream_gene_variant BRCA-UK X 48932832 48932832 single base substitution G A exon_variant BRCA-UK X 48932832 48932832 single base substitution G A intron_variant BRCA-UK X 48932832 48932832 single base substitution G A synonymous_variant F238F 714C>T BRCA-UK X 48932832 48932832 single base substitution G A synonymous_variant F277F 831C>T BRCA-UK X 48932832 48932832 single base substitution G A synonymous_variant F298F 894C>T BRCA-UK X 48932832 48932832 single base substitution G A synonymous_variant F312F 936C>T BRCA-UK X 48932832 48932832 single base substitution G A synonymous_variant F313F 939C>T BRCA-UK X 48932832 48932832 single base substitution G A synonymous_variant F323F 969C>T BRCA-UK X 48932832 48932832 single base substitution G A synonymous_variant F36F 108C>T BRCA-UK X 48944289 48944289 single base substitution G A intron_variant BRCA-UK X 48949979 48949979 single base substitution T A intron_variant BRCA-UK X 48951416 48951416 single base substitution A T intron_variant BRCA-US X 48924824 48924824 single base substitution C T downstream_gene_variant BRCA-US X 48931491 48931491 single base substitution G A downstream_gene_variant BRCA-US X 48931491 48931491 single base substitution G A intron_variant BRCA-US X 48932526 48932526 single base substitution T C downstream_gene_variant BRCA-US X 48932526 48932526 single base substitution T C exon_variant BRCA-US X 48932526 48932526 single base substitution T C intron_variant BRCA-US X 48932526 48932526 single base substitution T C missense_variant D266G 797A>G BRCA-US X 48932526 48932526 single base substitution T C missense_variant D305G 914A>G BRCA-US X 48932526 48932526 single base substitution T C missense_variant D326G 977A>G BRCA-US X 48932526 48932526 single base substitution T C missense_variant D340G 1019A>G BRCA-US X 48932526 48932526 single base substitution T C missense_variant D341G 1022A>G BRCA-US X 48932526 48932526 single base substitution T C missense_variant D351G 1052A>G BRCA-US X 48932526 48932526 single base substitution T C missense_variant D60G 179A>G BRCA-US X 48932526 48932526 single base substitution T C stop_lost *119W 357A>G BRCA-US X 48932526 48932526 single base substitution T C stop_lost *257W 771A>G BRCA-US X 48933619 48933619 insertion of <=200bp - G downstream_gene_variant BRCA-US X 48933619 48933619 insertion of <=200bp - G frameshift_variant H117H? BRCA-US X 48933619 48933619 insertion of <=200bp - G frameshift_variant H152H? BRCA-US X 48933619 48933619 insertion of <=200bp - G intron_variant BRCA-US X 48933619 48933619 insertion of <=200bp - G upstream_gene_variant BRCA-US X 48934351 48934351 single base substitution C T downstream_gene_variant BRCA-US X 48934351 48934351 single base substitution C T exon_variant BRCA-US X 48934351 48934351 single base substitution C T intron_variant BRCA-US X 48934351 48934351 single base substitution C T synonymous_variant E116E 348G>A BRCA-US X 48934351 48934351 single base substitution C T synonymous_variant E123E 369G>A BRCA-US X 48934351 48934351 single base substitution C T synonymous_variant E54E 162G>A BRCA-US X 48934351 48934351 single base substitution C T synonymous_variant E63E 189G>A BRCA-US X 48934351 48934351 single base substitution C T synonymous_variant E64E 192G>A BRCA-US X 48934351 48934351 single base substitution C T synonymous_variant E98E 294G>A BRCA-US X 48934351 48934351 single base substitution C T synonymous_variant E99E 297G>A BRCA-US X 48934351 48934351 single base substitution C T upstream_gene_variant BRCA-US X 48935539 48935539 single base substitution C G downstream_gene_variant BRCA-US X 48935539 48935539 single base substitution C G exon_variant BRCA-US X 48935539 48935539 single base substitution C G synonymous_variant V29V 87G>C BRCA-US X 48935539 48935539 single base substitution C G upstream_gene_variant BTCA-JP X 48924994 48924994 insertion of <=200bp - C downstream_gene_variant BTCA-JP X 48925918 48925918 single base substitution C A downstream_gene_variant BTCA-JP X 48933234 48933234 single base substitution C T downstream_gene_variant BTCA-JP X 48933234 48933234 single base substitution C T exon_variant BTCA-JP X 48933234 48933234 single base substitution C T missense_variant R130H 389G>A BTCA-JP X 48933234 48933234 single base substitution C T missense_variant R158H 473G>A BTCA-JP X 48933234 48933234 single base substitution C T missense_variant R197H 590G>A BTCA-JP X 48933234 48933234 single base substitution C T missense_variant R232H 695G>A BTCA-JP X 48933234 48933234 single base substitution C T missense_variant R233H 698G>A BTCA-JP X 48933234 48933234 single base substitution C T missense_variant R243H 728G>A BTCA-JP X 48933234 48933234 single base substitution C T missense_variant R60H 179G>A BTCA-JP X 48933234 48933234 single base substitution C T upstream_gene_variant BTCA-JP X 48935696 48935696 single base substitution T A downstream_gene_variant BTCA-JP X 48935696 48935696 single base substitution T A intron_variant BTCA-JP X 48935696 48935696 single base substitution T A splice_region_variant BTCA-JP X 48935696 48935696 single base substitution T A upstream_gene_variant CESC-US X 48924808 48924808 single base substitution C T downstream_gene_variant CESC-US X 48925127 48925127 single base substitution G A downstream_gene_variant CESC-US X 48931629 48931629 single base substitution C T downstream_gene_variant CESC-US X 48931629 48931629 single base substitution C T intron_variant CESC-US X 48932470 48932470 single base substitution C T 3_prime_UTR_variant CESC-US X 48932470 48932470 single base substitution C T downstream_gene_variant CESC-US X 48932470 48932470 single base substitution C T exon_variant CESC-US X 48932470 48932470 single base substitution C T intron_variant CESC-US X 48932470 48932470 single base substitution C T missense_variant D285N 853G>A CESC-US X 48932470 48932470 single base substitution C T missense_variant D324N 970G>A CESC-US X 48932470 48932470 single base substitution C T missense_variant D345N 1033G>A CESC-US X 48932470 48932470 single base substitution C T missense_variant D359N 1075G>A CESC-US X 48932470 48932470 single base substitution C T missense_variant D360N 1078G>A CESC-US X 48932470 48932470 single base substitution C T missense_variant D370N 1108G>A CESC-US X 48932470 48932470 single base substitution C T missense_variant D79N 235G>A CESC-US X 48932479 48932479 single base substitution C T 3_prime_UTR_variant CESC-US X 48932479 48932479 single base substitution C T downstream_gene_variant CESC-US X 48932479 48932479 single base substitution C T exon_variant CESC-US X 48932479 48932479 single base substitution C T intron_variant CESC-US X 48932479 48932479 single base substitution C T missense_variant D282N 844G>A CESC-US X 48932479 48932479 single base substitution C T missense_variant D321N 961G>A CESC-US X 48932479 48932479 single base substitution C T missense_variant D342N 1024G>A CESC-US X 48932479 48932479 single base substitution C T missense_variant D356N 1066G>A CESC-US X 48932479 48932479 single base substitution C T missense_variant D357N 1069G>A CESC-US X 48932479 48932479 single base substitution C T missense_variant D367N 1099G>A CESC-US X 48932479 48932479 single base substitution C T missense_variant D76N 226G>A CESC-US X 48932841 48932841 single base substitution G C downstream_gene_variant CESC-US X 48932841 48932841 single base substitution G C exon_variant CESC-US X 48932841 48932841 single base substitution G C intron_variant CESC-US X 48932841 48932841 single base substitution G C missense_variant I235M 705C>G CESC-US X 48932841 48932841 single base substitution G C missense_variant I274M 822C>G CESC-US X 48932841 48932841 single base substitution G C missense_variant I295M 885C>G CESC-US X 48932841 48932841 single base substitution G C missense_variant I309M 927C>G CESC-US X 48932841 48932841 single base substitution G C missense_variant I310M 930C>G CESC-US X 48932841 48932841 single base substitution G C missense_variant I320M 960C>G CESC-US X 48932841 48932841 single base substitution G C missense_variant I33M 99C>G CESC-US X 48934313 48934313 single base substitution C T downstream_gene_variant CESC-US X 48934313 48934313 single base substitution C T exon_variant CESC-US X 48934313 48934313 single base substitution C T intron_variant CESC-US X 48934313 48934313 single base substitution C T missense_variant R111H 332G>A CESC-US X 48934313 48934313 single base substitution C T missense_variant R112H 335G>A CESC-US X 48934313 48934313 single base substitution C T missense_variant R129H 386G>A CESC-US X 48934313 48934313 single base substitution C T missense_variant R136H 407G>A CESC-US X 48934313 48934313 single base substitution C T missense_variant R67H 200G>A CESC-US X 48934313 48934313 single base substitution C T missense_variant R76H 227G>A CESC-US X 48934313 48934313 single base substitution C T missense_variant R77H 230G>A CESC-US X 48934313 48934313 single base substitution C T upstream_gene_variant CESC-US X 48934502 48934502 single base substitution C T downstream_gene_variant CESC-US X 48934502 48934502 single base substitution C T exon_variant CESC-US X 48934502 48934502 single base substitution C T intron_variant CESC-US X 48934502 48934502 single base substitution C T upstream_gene_variant CESC-US X 48935159 48935159 single base substitution G C downstream_gene_variant CESC-US X 48935159 48935159 single base substitution G C exon_variant CESC-US X 48935159 48935159 single base substitution G C intron_variant CESC-US X 48935159 48935159 single base substitution G C upstream_gene_variant CESC-US X 48935736 48935736 single base substitution G A downstream_gene_variant CESC-US X 48935736 48935736 single base substitution G A exon_variant CESC-US X 48935736 48935736 single base substitution G A stop_gained R7* 19C>T CESC-US X 48935736 48935736 single base substitution G A upstream_gene_variant CLLE-ES X 48935255 48935255 single base substitution C T downstream_gene_variant CLLE-ES X 48935255 48935255 single base substitution C T exon_variant CLLE-ES X 48935255 48935255 single base substitution C T intron_variant CLLE-ES X 48935255 48935255 single base substitution C T upstream_gene_variant CLLE-ES X 48935263 48935263 single base substitution C T downstream_gene_variant CLLE-ES X 48935263 48935263 single base substitution C T exon_variant CLLE-ES X 48935263 48935263 single base substitution C T intron_variant CLLE-ES X 48935263 48935263 single base substitution C T upstream_gene_variant CLLE-ES X 48953374 48953374 single base substitution T C intron_variant COAD-US X 48924774 48924774 single base substitution G A downstream_gene_variant COAD-US X 48924815 48924815 single base substitution C T downstream_gene_variant COAD-US X 48925015 48925015 single base substitution C T downstream_gene_variant COAD-US X 48925560 48925560 single base substitution A G downstream_gene_variant COAD-US X 48925609 48925609 single base substitution G A downstream_gene_variant COAD-US X 48929638 48929638 single base substitution G A downstream_gene_variant COAD-US X 48929638 48929638 single base substitution G A missense_variant R257C 769C>T COAD-US X 48930206 48930206 single base substitution G A downstream_gene_variant COAD-US X 48930206 48930206 single base substitution G A missense_variant R209C 625C>T COAD-US X 48930306 48930306 single base substitution G A downstream_gene_variant COAD-US X 48930306 48930306 single base substitution G A synonymous_variant Y175Y 525C>T COAD-US X 48931644 48931644 single base substitution C A downstream_gene_variant COAD-US X 48931644 48931644 single base substitution C A intron_variant COAD-US X 48932811 48932811 single base substitution G A downstream_gene_variant COAD-US X 48932811 48932811 single base substitution G A exon_variant COAD-US X 48932811 48932811 single base substitution G A intron_variant COAD-US X 48932811 48932811 single base substitution G A synonymous_variant N245N 735C>T COAD-US X 48932811 48932811 single base substitution G A synonymous_variant N284N 852C>T COAD-US X 48932811 48932811 single base substitution G A synonymous_variant N305N 915C>T COAD-US X 48932811 48932811 single base substitution G A synonymous_variant N319N 957C>T COAD-US X 48932811 48932811 single base substitution G A synonymous_variant N320N 960C>T COAD-US X 48932811 48932811 single base substitution G A synonymous_variant N330N 990C>T COAD-US X 48932811 48932811 single base substitution G A synonymous_variant N43N 129C>T COAD-US X 48932827 48932827 single base substitution C T downstream_gene_variant COAD-US X 48932827 48932827 single base substitution C T exon_variant COAD-US X 48932827 48932827 single base substitution C T intron_variant COAD-US X 48932827 48932827 single base substitution C T missense_variant R240H 719G>A COAD-US X 48932827 48932827 single base substitution C T missense_variant R279H 836G>A COAD-US X 48932827 48932827 single base substitution C T missense_variant R300H 899G>A COAD-US X 48932827 48932827 single base substitution C T missense_variant R314H 941G>A COAD-US X 48932827 48932827 single base substitution C T missense_variant R315H 944G>A COAD-US X 48932827 48932827 single base substitution C T missense_variant R325H 974G>A COAD-US X 48932827 48932827 single base substitution C T missense_variant R38H 113G>A COAD-US X 48933276 48933276 single base substitution C T downstream_gene_variant COAD-US X 48933276 48933276 single base substitution C T exon_variant COAD-US X 48933276 48933276 single base substitution C T missense_variant R116H 347G>A COAD-US X 48933276 48933276 single base substitution C T missense_variant R144H 431G>A COAD-US X 48933276 48933276 single base substitution C T missense_variant R183H 548G>A COAD-US X 48933276 48933276 single base substitution C T missense_variant R218H 653G>A COAD-US X 48933276 48933276 single base substitution C T missense_variant R219H 656G>A COAD-US X 48933276 48933276 single base substitution C T missense_variant R229H 686G>A COAD-US X 48933276 48933276 single base substitution C T missense_variant R46H 137G>A COAD-US X 48933276 48933276 single base substitution C T upstream_gene_variant COAD-US X 48934128 48934128 single base substitution G A downstream_gene_variant COAD-US X 48934128 48934128 single base substitution G A exon_variant COAD-US X 48934128 48934128 single base substitution G A intron_variant COAD-US X 48934128 48934128 single base substitution G A stop_gained R133* 397C>T COAD-US X 48934128 48934128 single base substitution G A stop_gained R134* 400C>T COAD-US X 48934128 48934128 single base substitution G A stop_gained R151* 451C>T COAD-US X 48934128 48934128 single base substitution G A stop_gained R158* 472C>T COAD-US X 48934128 48934128 single base substitution G A stop_gained R89* 265C>T COAD-US X 48934128 48934128 single base substitution G A stop_gained R98* 292C>T COAD-US X 48934128 48934128 single base substitution G A stop_gained R99* 295C>T COAD-US X 48934128 48934128 single base substitution G A upstream_gene_variant COCA-CN X 48924818 48924818 single base substitution A C downstream_gene_variant COCA-CN X 48925379 48925379 single base substitution A C downstream_gene_variant COCA-CN X 48925676 48925676 single base substitution C G downstream_gene_variant COCA-CN X 48929606 48929606 single base substitution G A downstream_gene_variant COCA-CN X 48929606 48929606 single base substitution G A synonymous_variant I267I 801C>T COCA-CN X 48931471 48931471 single base substitution G A downstream_gene_variant COCA-CN X 48931471 48931471 single base substitution G A intron_variant COCA-CN X 48933025 48933026 multiple base substitution (>=2bp and <=200bp) GG CC downstream_gene_variant COCA-CN X 48933025 48933026 multiple base substitution (>=2bp and <=200bp) GG CC exon_variant COCA-CN X 48933025 48933026 multiple base substitution (>=2bp and <=200bp) GG CC intron_variant COCA-CN X 48933025 48933026 multiple base substitution (>=2bp and <=200bp) GG CC missense_variant S103W 308CC>GG COCA-CN X 48933025 48933026 multiple base substitution (>=2bp and <=200bp) GG CC missense_variant S173W 518CC>GG COCA-CN X 48933025 48933026 multiple base substitution (>=2bp and <=200bp) GG CC missense_variant S201W 602CC>GG COCA-CN X 48933025 48933026 multiple base substitution (>=2bp and <=200bp) GG CC missense_variant S240W 719CC>GG COCA-CN X 48933025 48933026 multiple base substitution (>=2bp and <=200bp) GG CC missense_variant S261W 782CC>GG COCA-CN X 48933025 48933026 multiple base substitution (>=2bp and <=200bp) GG CC missense_variant S275W 824CC>GG COCA-CN X 48933025 48933026 multiple base substitution (>=2bp and <=200bp) GG CC missense_variant S276W 827CC>GG COCA-CN X 48933025 48933026 multiple base substitution (>=2bp and <=200bp) GG CC missense_variant S286W 857CC>GG COCA-CN X 48933025 48933026 multiple base substitution (>=2bp and <=200bp) GG CC splice_region_variant COCA-CN X 48933025 48933026 multiple base substitution (>=2bp and <=200bp) GG CC upstream_gene_variant COCA-CN X 48935556 48935556 single base substitution C T downstream_gene_variant COCA-CN X 48935556 48935556 single base substitution C T exon_variant COCA-CN X 48935556 48935556 single base substitution C T missense_variant A24T 70G>A COCA-CN X 48935556 48935556 single base substitution C T upstream_gene_variant EOPC-DE X 48929760 48929760 single base substitution C A downstream_gene_variant EOPC-DE X 48929760 48929760 single base substitution C A intron_variant EOPC-DE X 48962357 48962357 single base substitution A C upstream_gene_variant ESCA-CN X 48924758 48924758 single base substitution C T downstream_gene_variant ESCA-CN X 48924773 48924773 single base substitution C T downstream_gene_variant ESCA-CN X 48925376 48925376 single base substitution C T downstream_gene_variant GBM-US X 48935362 48935362 single base substitution G A downstream_gene_variant GBM-US X 48935362 48935362 single base substitution G A exon_variant GBM-US X 48935362 48935362 single base substitution G A intron_variant GBM-US X 48935362 48935362 single base substitution G A missense_variant R15C 43C>T GBM-US X 48935362 48935362 single base substitution G A missense_variant R59C 175C>T GBM-US X 48935362 48935362 single base substitution G A upstream_gene_variant LAML-KR X 48957191 48957191 single base substitution G T 5_prime_UTR_variant LAML-KR X 48957191 48957191 single base substitution G T exon_variant LAML-KR X 48957191 48957191 single base substitution G T intron_variant LICA-CN X 48935537 48935537 single base substitution C A downstream_gene_variant LICA-CN X 48935537 48935537 single base substitution C A exon_variant LICA-CN X 48935537 48935537 single base substitution C A missense_variant R30L 89G>T LICA-CN X 48935537 48935537 single base substitution C A upstream_gene_variant LICA-FR X 48932926 48932926 single base substitution C T downstream_gene_variant LICA-FR X 48932926 48932926 single base substitution C T exon_variant LICA-FR X 48932926 48932926 single base substitution C T intron_variant LICA-FR X 48932926 48932926 single base substitution C T missense_variant G207D 620G>A LICA-FR X 48932926 48932926 single base substitution C T missense_variant G246D 737G>A LICA-FR X 48932926 48932926 single base substitution C T missense_variant G267D 800G>A LICA-FR X 48932926 48932926 single base substitution C T missense_variant G281D 842G>A LICA-FR X 48932926 48932926 single base substitution C T missense_variant G282D 845G>A LICA-FR X 48932926 48932926 single base substitution C T missense_variant G292D 875G>A LICA-FR X 48932926 48932926 single base substitution C T missense_variant G5D 14G>A LICA-FR X 48933585 48933585 single base substitution G T downstream_gene_variant LICA-FR X 48933585 48933585 single base substitution G T exon_variant LICA-FR X 48933585 48933585 single base substitution G T synonymous_variant P108P 324C>A LICA-FR X 48933585 48933585 single base substitution G T synonymous_variant P117P 351C>A LICA-FR X 48933585 48933585 single base substitution G T synonymous_variant P118P 354C>A LICA-FR X 48933585 48933585 single base substitution G T synonymous_variant P128P 384C>A LICA-FR X 48933585 48933585 single base substitution G T synonymous_variant P152P 456C>A LICA-FR X 48933585 48933585 single base substitution G T synonymous_variant P153P 459C>A LICA-FR X 48933585 48933585 single base substitution G T synonymous_variant P163P 489C>A LICA-FR X 48933585 48933585 single base substitution G T synonymous_variant P170P 510C>A LICA-FR X 48933585 48933585 single base substitution G T synonymous_variant P177P 531C>A LICA-FR X 48933585 48933585 single base substitution G T synonymous_variant P50P 150C>A LICA-FR X 48933585 48933585 single base substitution G T synonymous_variant P85P 255C>A LICA-FR X 48933585 48933585 single base substitution G T upstream_gene_variant LICA-FR X 48957176 48957176 deletion of <=200bp T - 5_prime_UTR_variant LICA-FR X 48957176 48957176 deletion of <=200bp T - exon_variant LICA-FR X 48957176 48957176 deletion of <=200bp T - intron_variant LIHC-US X 48931536 48931536 single base substitution G T downstream_gene_variant LIHC-US X 48931536 48931536 single base substitution G T intron_variant LIHC-US X 48933031 48933031 single base substitution G A downstream_gene_variant LIHC-US X 48933031 48933031 single base substitution G A exon_variant LIHC-US X 48933031 48933031 single base substitution G A intron_variant LIHC-US X 48933031 48933031 single base substitution G A synonymous_variant R101R 303C>T LIHC-US X 48933031 48933031 single base substitution G A synonymous_variant R171R 513C>T LIHC-US X 48933031 48933031 single base substitution G A synonymous_variant R199R 597C>T LIHC-US X 48933031 48933031 single base substitution G A synonymous_variant R238R 714C>T LIHC-US X 48933031 48933031 single base substitution G A synonymous_variant R259R 777C>T LIHC-US X 48933031 48933031 single base substitution G A synonymous_variant R273R 819C>T LIHC-US X 48933031 48933031 single base substitution G A synonymous_variant R274R 822C>T LIHC-US X 48933031 48933031 single base substitution G A synonymous_variant R284R 852C>T LIHC-US X 48933031 48933031 single base substitution G A upstream_gene_variant LINC-JP X 48925094 48925094 single base substitution T G downstream_gene_variant LINC-JP X 48929910 48929910 single base substitution C T downstream_gene_variant LINC-JP X 48929910 48929910 single base substitution C T intron_variant LINC-JP X 48932945 48932945 single base substitution A T downstream_gene_variant LINC-JP X 48932945 48932945 single base substitution A T exon_variant LINC-JP X 48932945 48932945 single base substitution A T intron_variant LINC-JP X 48932945 48932945 single base substitution A T splice_region_variant LINC-JP X 48932945 48932945 single base substitution A T upstream_gene_variant LINC-JP X 48941338 48941338 single base substitution C T intron_variant LINC-JP X 48941338 48941338 single base substitution C T upstream_gene_variant LINC-JP X 48963047 48963047 single base substitution C T upstream_gene_variant LIRI-JP X 48926281 48926281 single base substitution T C downstream_gene_variant LIRI-JP X 48934184 48934184 single base substitution C T downstream_gene_variant LIRI-JP X 48934184 48934184 single base substitution C T intron_variant LIRI-JP X 48934184 48934184 single base substitution C T splice_acceptor_variant LIRI-JP X 48934184 48934184 single base substitution C T upstream_gene_variant LIRI-JP X 48942758 48942758 single base substitution C T intron_variant LIRI-JP X 48942758 48942758 single base substitution C T upstream_gene_variant LIRI-JP X 48944619 48944619 single base substitution C T intron_variant LIRI-JP X 48945404 48945404 single base substitution A T intron_variant LIRI-JP X 48950764 48950764 single base substitution C A intron_variant LIRI-JP X 48957127 48957127 single base substitution T A intron_variant LUSC-KR X 48932194 48932194 single base substitution C T 3_prime_UTR_variant LUSC-KR X 48932194 48932194 single base substitution C T downstream_gene_variant LUSC-KR X 48932194 48932194 single base substitution C T exon_variant LUSC-KR X 48932194 48932194 single base substitution C T intron_variant LUSC-KR X 48959971 48959971 single base substitution T C upstream_gene_variant LUSC-KR X 48961130 48961130 single base substitution G A upstream_gene_variant LUSC-US X 48931479 48931479 single base substitution G C downstream_gene_variant LUSC-US X 48931479 48931479 single base substitution G C intron_variant LUSC-US X 48932917 48932917 single base substitution C T downstream_gene_variant LUSC-US X 48932917 48932917 single base substitution C T exon_variant LUSC-US X 48932917 48932917 single base substitution C T intron_variant LUSC-US X 48932917 48932917 single base substitution C T missense_variant G210E 629G>A LUSC-US X 48932917 48932917 single base substitution C T missense_variant G249E 746G>A LUSC-US X 48932917 48932917 single base substitution C T missense_variant G270E 809G>A LUSC-US X 48932917 48932917 single base substitution C T missense_variant G284E 851G>A LUSC-US X 48932917 48932917 single base substitution C T missense_variant G285E 854G>A LUSC-US X 48932917 48932917 single base substitution C T missense_variant G295E 884G>A LUSC-US X 48932917 48932917 single base substitution C T missense_variant G8E 23G>A LUSC-US X 48933067 48933067 single base substitution G T downstream_gene_variant LUSC-US X 48933067 48933067 single base substitution G T exon_variant LUSC-US X 48933067 48933067 single base substitution G T intron_variant LUSC-US X 48933067 48933067 single base substitution G T synonymous_variant V159V 477C>A LUSC-US X 48933067 48933067 single base substitution G T synonymous_variant V187V 561C>A LUSC-US X 48933067 48933067 single base substitution G T synonymous_variant V226V 678C>A LUSC-US X 48933067 48933067 single base substitution G T synonymous_variant V247V 741C>A LUSC-US X 48933067 48933067 single base substitution G T synonymous_variant V261V 783C>A LUSC-US X 48933067 48933067 single base substitution G T synonymous_variant V262V 786C>A LUSC-US X 48933067 48933067 single base substitution G T synonymous_variant V272V 816C>A LUSC-US X 48933067 48933067 single base substitution G T synonymous_variant V89V 267C>A LUSC-US X 48933067 48933067 single base substitution G T upstream_gene_variant LUSC-US X 48935748 48935748 single base substitution G A downstream_gene_variant LUSC-US X 48935748 48935748 single base substitution G A exon_variant LUSC-US X 48935748 48935748 single base substitution G A stop_gained Q3* 7C>T LUSC-US X 48935748 48935748 single base substitution G A upstream_gene_variant MALY-DE X 48925979 48925979 single base substitution T C downstream_gene_variant MALY-DE X 48956743 48956743 insertion of <=200bp - A intron_variant MELA-AU X 48924603 48924603 single base substitution T G downstream_gene_variant MELA-AU X 48925738 48925738 single base substitution C T downstream_gene_variant MELA-AU X 48927385 48927385 single base substitution G A downstream_gene_variant MELA-AU X 48927414 48927414 single base substitution T C downstream_gene_variant MELA-AU X 48927979 48927979 single base substitution C T downstream_gene_variant MELA-AU X 48929838 48929838 single base substitution C T downstream_gene_variant MELA-AU X 48929838 48929838 single base substitution C T intron_variant MELA-AU X 48930027 48930027 single base substitution C T downstream_gene_variant MELA-AU X 48930027 48930027 single base substitution C T intron_variant MELA-AU X 48930600 48930600 single base substitution C T downstream_gene_variant MELA-AU X 48930600 48930600 single base substitution C T intron_variant MELA-AU X 48931700 48931700 single base substitution G A downstream_gene_variant MELA-AU X 48931700 48931700 single base substitution G A intron_variant MELA-AU X 48931750 48931750 single base substitution G A downstream_gene_variant MELA-AU X 48931750 48931750 single base substitution G A intron_variant MELA-AU X 48931808 48931808 single base substitution G A downstream_gene_variant MELA-AU X 48931808 48931808 single base substitution G A intron_variant MELA-AU X 48932567 48932567 single base substitution G A downstream_gene_variant MELA-AU X 48932567 48932567 single base substitution G A exon_variant MELA-AU X 48932567 48932567 single base substitution G A intron_variant MELA-AU X 48932567 48932567 single base substitution G A synonymous_variant I252I 756C>T MELA-AU X 48932567 48932567 single base substitution G A synonymous_variant I291I 873C>T MELA-AU X 48932567 48932567 single base substitution G A synonymous_variant I312I 936C>T MELA-AU X 48932567 48932567 single base substitution G A synonymous_variant I326I 978C>T MELA-AU X 48932567 48932567 single base substitution G A synonymous_variant I327I 981C>T MELA-AU X 48932567 48932567 single base substitution G A synonymous_variant I337I 1011C>T MELA-AU X 48932567 48932567 single base substitution G A synonymous_variant L106L 316C>T MELA-AU X 48932567 48932567 single base substitution G A synonymous_variant L244L 730C>T MELA-AU X 48932577 48932577 single base substitution G A downstream_gene_variant MELA-AU X 48932577 48932577 single base substitution G A exon_variant MELA-AU X 48932577 48932577 single base substitution G A intron_variant MELA-AU X 48932843 48932843 single base substitution T C downstream_gene_variant MELA-AU X 48932843 48932843 single base substitution T C exon_variant MELA-AU X 48932843 48932843 single base substitution T C intron_variant MELA-AU X 48932843 48932843 single base substitution T C missense_variant I235V 703A>G MELA-AU X 48932843 48932843 single base substitution T C missense_variant I274V 820A>G MELA-AU X 48932843 48932843 single base substitution T C missense_variant I295V 883A>G MELA-AU X 48932843 48932843 single base substitution T C missense_variant I309V 925A>G MELA-AU X 48932843 48932843 single base substitution T C missense_variant I310V 928A>G MELA-AU X 48932843 48932843 single base substitution T C missense_variant I320V 958A>G MELA-AU X 48932843 48932843 single base substitution T C missense_variant I33V 97A>G MELA-AU X 48933013 48933013 single base substitution G A downstream_gene_variant MELA-AU X 48933013 48933013 single base substitution G A exon_variant MELA-AU X 48933013 48933013 single base substitution G A intron_variant MELA-AU X 48933013 48933013 single base substitution G A upstream_gene_variant MELA-AU X 48933812 48933812 single base substitution C T downstream_gene_variant MELA-AU X 48933812 48933812 single base substitution C T intron_variant MELA-AU X 48933812 48933812 single base substitution C T upstream_gene_variant MELA-AU X 48933832 48933832 single base substitution G A downstream_gene_variant MELA-AU X 48933832 48933832 single base substitution G A intron_variant MELA-AU X 48933832 48933832 single base substitution G A upstream_gene_variant MELA-AU X 48934266 48934266 single base substitution G A downstream_gene_variant MELA-AU X 48934266 48934266 single base substitution G A intron_variant MELA-AU X 48934266 48934266 single base substitution G A upstream_gene_variant MELA-AU X 48935187 48935187 single base substitution C T downstream_gene_variant MELA-AU X 48935187 48935187 single base substitution C T exon_variant MELA-AU X 48935187 48935187 single base substitution C T intron_variant MELA-AU X 48935187 48935187 single base substitution C T upstream_gene_variant MELA-AU X 48935250 48935250 single base substitution G A downstream_gene_variant MELA-AU X 48935250 48935250 single base substitution G A exon_variant MELA-AU X 48935250 48935250 single base substitution G A intron_variant MELA-AU X 48935250 48935250 single base substitution G A upstream_gene_variant MELA-AU X 48935261 48935261 single base substitution T A downstream_gene_variant MELA-AU X 48935261 48935261 single base substitution T A exon_variant MELA-AU X 48935261 48935261 single base substitution T A intron_variant MELA-AU X 48935261 48935261 single base substitution T A upstream_gene_variant MELA-AU X 48935429 48935429 single base substitution G A downstream_gene_variant MELA-AU X 48935429 48935429 single base substitution G A exon_variant MELA-AU X 48935429 48935429 single base substitution G A intron_variant MELA-AU X 48935429 48935429 single base substitution G A upstream_gene_variant MELA-AU X 48936181 48936181 single base substitution G A downstream_gene_variant MELA-AU X 48936181 48936181 single base substitution G A intron_variant MELA-AU X 48936181 48936181 single base substitution G A upstream_gene_variant MELA-AU X 48936917 48936927 deletion of <=200bp CCCCCTCTAGA - downstream_gene_variant MELA-AU X 48936917 48936927 deletion of <=200bp CCCCCTCTAGA - intron_variant MELA-AU X 48936917 48936927 deletion of <=200bp CCCCCTCTAGA - upstream_gene_variant MELA-AU X 48937312 48937312 single base substitution G A downstream_gene_variant MELA-AU X 48937312 48937312 single base substitution G A intron_variant MELA-AU X 48937312 48937312 single base substitution G A upstream_gene_variant MELA-AU X 48937573 48937573 single base substitution G A 5_prime_UTR_variant MELA-AU X 48937573 48937573 single base substitution G A downstream_gene_variant MELA-AU X 48937573 48937573 single base substitution G A intron_variant MELA-AU X 48937573 48937573 single base substitution G A upstream_gene_variant MELA-AU X 48937685 48937685 single base substitution G A 5_prime_UTR_variant MELA-AU X 48937685 48937685 single base substitution G A downstream_gene_variant MELA-AU X 48937685 48937685 single base substitution G A exon_variant MELA-AU X 48937685 48937685 single base substitution G A intron_variant MELA-AU X 48937685 48937685 single base substitution G A upstream_gene_variant MELA-AU X 48938617 48938617 single base substitution C T intron_variant MELA-AU X 48938617 48938617 single base substitution C T upstream_gene_variant MELA-AU X 48938658 48938658 single base substitution G A intron_variant MELA-AU X 48938658 48938658 single base substitution G A upstream_gene_variant MELA-AU X 48938868 48938868 single base substitution G A intron_variant MELA-AU X 48938868 48938868 single base substitution G A upstream_gene_variant MELA-AU X 48939627 48939627 single base substitution G A intron_variant MELA-AU X 48939627 48939627 single base substitution G A upstream_gene_variant MELA-AU X 48939969 48939969 single base substitution C A intron_variant MELA-AU X 48939969 48939969 single base substitution C A upstream_gene_variant MELA-AU X 48940161 48940161 single base substitution C T intron_variant MELA-AU X 48940161 48940161 single base substitution C T upstream_gene_variant MELA-AU X 48940602 48940602 single base substitution G A intron_variant MELA-AU X 48940602 48940602 single base substitution G A upstream_gene_variant MELA-AU X 48941498 48941498 single base substitution G A intron_variant MELA-AU X 48941498 48941498 single base substitution G A upstream_gene_variant MELA-AU X 48941844 48941844 single base substitution G A intron_variant MELA-AU X 48941844 48941844 single base substitution G A upstream_gene_variant MELA-AU X 48942126 48942127 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 48942126 48942127 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU X 48942267 48942267 single base substitution A G intron_variant MELA-AU X 48942267 48942267 single base substitution A G upstream_gene_variant MELA-AU X 48942552 48942552 single base substitution G A intron_variant MELA-AU X 48942552 48942552 single base substitution G A upstream_gene_variant MELA-AU X 48943920 48943920 single base substitution C T intron_variant MELA-AU X 48944383 48944384 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 48944651 48944651 single base substitution G A intron_variant MELA-AU X 48945185 48945185 deletion of <=200bp A - intron_variant MELA-AU X 48946938 48946938 single base substitution G A intron_variant MELA-AU X 48947838 48947838 single base substitution C T intron_variant MELA-AU X 48949244 48949244 single base substitution G A intron_variant MELA-AU X 48950191 48950191 single base substitution G A intron_variant MELA-AU X 48951128 48951128 single base substitution C A intron_variant MELA-AU X 48951417 48951417 single base substitution T A intron_variant MELA-AU X 48951712 48951712 single base substitution T C intron_variant MELA-AU X 48952210 48952210 single base substitution G A intron_variant MELA-AU X 48952288 48952288 single base substitution G A intron_variant MELA-AU X 48953229 48953229 single base substitution G A intron_variant MELA-AU X 48953473 48953473 single base substitution C T intron_variant MELA-AU X 48953499 48953499 single base substitution G A intron_variant MELA-AU X 48955263 48955263 single base substitution G A intron_variant MELA-AU X 48956385 48956385 single base substitution G A intron_variant MELA-AU X 48956779 48956779 single base substitution G A intron_variant MELA-AU X 48957090 48957090 single base substitution T C intron_variant MELA-AU X 48957396 48957396 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU X 48957396 48957396 single base substitution G A exon_variant MELA-AU X 48957396 48957396 single base substitution G A intron_variant MELA-AU X 48957416 48957416 single base substitution C T 5_prime_UTR_variant MELA-AU X 48957416 48957416 single base substitution C T exon_variant MELA-AU X 48957416 48957416 single base substitution C T intron_variant MELA-AU X 48957656 48957656 single base substitution G A exon_variant MELA-AU X 48957656 48957656 single base substitution G A intron_variant MELA-AU X 48958111 48958111 single base substitution G A upstream_gene_variant MELA-AU X 48958229 48958229 single base substitution C T upstream_gene_variant MELA-AU X 48958515 48958515 single base substitution C T upstream_gene_variant MELA-AU X 48958648 48958648 single base substitution G A upstream_gene_variant MELA-AU X 48958758 48958758 single base substitution G A upstream_gene_variant MELA-AU X 48958936 48958936 single base substitution G A upstream_gene_variant MELA-AU X 48959363 48959363 single base substitution G A upstream_gene_variant MELA-AU X 48959856 48959856 single base substitution G A upstream_gene_variant MELA-AU X 48959856 48959856 single base substitution G T upstream_gene_variant MELA-AU X 48960092 48960092 single base substitution G A upstream_gene_variant MELA-AU X 48960319 48960319 single base substitution G A upstream_gene_variant MELA-AU X 48961424 48961424 single base substitution G A upstream_gene_variant MELA-AU X 48961743 48961743 single base substitution G A upstream_gene_variant MELA-AU X 48961915 48961915 single base substitution G A upstream_gene_variant MELA-AU X 48962353 48962353 single base substitution G A upstream_gene_variant ORCA-IN X 48935392 48935392 single base substitution C A downstream_gene_variant ORCA-IN X 48935392 48935392 single base substitution C A exon_variant ORCA-IN X 48935392 48935392 single base substitution C A intron_variant ORCA-IN X 48935392 48935392 single base substitution C A missense_variant G49C 145G>T ORCA-IN X 48935392 48935392 single base substitution C A missense_variant G5C 13G>T ORCA-IN X 48935392 48935392 single base substitution C A upstream_gene_variant OV-AU X 48926828 48926828 single base substitution C T downstream_gene_variant OV-AU X 48929076 48929076 single base substitution C T downstream_gene_variant OV-AU X 48934504 48934504 single base substitution A G downstream_gene_variant OV-AU X 48934504 48934504 single base substitution A G exon_variant OV-AU X 48934504 48934504 single base substitution A G intron_variant OV-AU X 48934504 48934504 single base substitution A G upstream_gene_variant OV-AU X 48937679 48937679 single base substitution C T 5_prime_UTR_variant OV-AU X 48937679 48937679 single base substitution C T downstream_gene_variant OV-AU X 48937679 48937679 single base substitution C T exon_variant OV-AU X 48937679 48937679 single base substitution C T intron_variant OV-AU X 48937679 48937679 single base substitution C T upstream_gene_variant OV-AU X 48941709 48941709 single base substitution G C intron_variant OV-AU X 48941709 48941709 single base substitution G C upstream_gene_variant OV-AU X 48943239 48943239 single base substitution C A intron_variant OV-AU X 48944289 48944289 single base substitution G A intron_variant OV-AU X 48947218 48947218 single base substitution C T intron_variant OV-AU X 48953530 48953530 single base substitution T C intron_variant OV-AU X 48958276 48958276 single base substitution G A upstream_gene_variant OV-AU X 48959112 48959112 single base substitution G A upstream_gene_variant OV-AU X 48962961 48962961 single base substitution G T upstream_gene_variant PACA-AU X 48925879 48925879 single base substitution T G downstream_gene_variant PACA-AU X 48931538 48931538 single base substitution C T downstream_gene_variant PACA-AU X 48931538 48931538 single base substitution C T intron_variant PACA-AU X 48933842 48933842 single base substitution A G downstream_gene_variant PACA-AU X 48933842 48933842 single base substitution A G intron_variant PACA-AU X 48933842 48933842 single base substitution A G splice_region_variant PACA-AU X 48933842 48933842 single base substitution A G upstream_gene_variant PACA-AU X 48936948 48936948 single base substitution C A downstream_gene_variant PACA-AU X 48936948 48936948 single base substitution C A intron_variant PACA-AU X 48936948 48936948 single base substitution C A upstream_gene_variant PACA-AU X 48937345 48937345 single base substitution C T downstream_gene_variant PACA-AU X 48937345 48937345 single base substitution C T intron_variant PACA-AU X 48937345 48937345 single base substitution C T upstream_gene_variant PACA-AU X 48937907 48937907 single base substitution G C 5_prime_UTR_variant PACA-AU X 48937907 48937907 single base substitution G C exon_variant PACA-AU X 48937907 48937907 single base substitution G C intron_variant PACA-AU X 48937907 48937907 single base substitution G C upstream_gene_variant PACA-AU X 48943994 48943994 single base substitution T A intron_variant PACA-AU X 48943998 48943998 single base substitution T A intron_variant PACA-AU X 48945589 48945589 single base substitution T A intron_variant PACA-AU X 48947161 48947161 single base substitution G A intron_variant PACA-AU X 48948250 48948250 single base substitution G A intron_variant PACA-AU X 48957241 48957241 single base substitution C T 5_prime_UTR_variant PACA-AU X 48957241 48957241 single base substitution C T exon_variant PACA-AU X 48957241 48957241 single base substitution C T intron_variant PACA-AU X 48957575 48957575 single base substitution A G exon_variant PACA-AU X 48957575 48957575 single base substitution A G intron_variant PACA-CA X 48931573 48931573 single base substitution G A downstream_gene_variant PACA-CA X 48931573 48931573 single base substitution G A intron_variant PACA-CA X 48931711 48931711 single base substitution C T downstream_gene_variant PACA-CA X 48931711 48931711 single base substitution C T intron_variant PACA-CA X 48941793 48941793 single base substitution C T intron_variant PACA-CA X 48941793 48941793 single base substitution C T upstream_gene_variant PACA-CA X 48942006 48942006 single base substitution T C intron_variant PACA-CA X 48942006 48942006 single base substitution T C upstream_gene_variant PACA-CA X 48950229 48950229 insertion of <=200bp - T intron_variant PACA-CA X 48950788 48950788 deletion of <=200bp T - intron_variant PACA-CA X 48953690 48953690 single base substitution A G intron_variant PACA-CA X 48955304 48955304 single base substitution G A intron_variant PACA-CA X 48957088 48957088 single base substitution C T intron_variant PACA-CA X 48957958 48957958 single base substitution C T exon_variant PACA-CA X 48957958 48957958 single base substitution C T intron_variant PACA-CA X 48961349 48961349 single base substitution A G upstream_gene_variant PACA-CA X 48963055 48963055 single base substitution G A upstream_gene_variant PAEN-AU X 48951028 48951028 single base substitution C A intron_variant PBCA-DE X 48926447 48926447 single base substitution G A downstream_gene_variant PBCA-DE X 48935389 48935389 single base substitution T G downstream_gene_variant PBCA-DE X 48935389 48935389 single base substitution T G exon_variant PBCA-DE X 48935389 48935389 single base substitution T G intron_variant PBCA-DE X 48935389 48935389 single base substitution T G missense_variant S50R 148A>C PBCA-DE X 48935389 48935389 single base substitution T G missense_variant S6R 16A>C PBCA-DE X 48935389 48935389 single base substitution T G upstream_gene_variant PBCA-DE X 48936980 48936980 single base substitution C A downstream_gene_variant PBCA-DE X 48936980 48936980 single base substitution C A intron_variant PBCA-DE X 48936980 48936980 single base substitution C A upstream_gene_variant PBCA-DE X 48938427 48938427 single base substitution A T intron_variant PBCA-DE X 48938427 48938427 single base substitution A T upstream_gene_variant PBCA-DE X 48943533 48943533 insertion of <=200bp - T intron_variant PBCA-DE X 48944686 48944686 single base substitution G A intron_variant PBCA-DE X 48947395 48947395 single base substitution C G intron_variant PBCA-DE X 48947925 48947925 insertion of <=200bp - T intron_variant PBCA-DE X 48950499 48950499 single base substitution C T intron_variant READ-US X 48932500 48932500 single base substitution C T 3_prime_UTR_variant READ-US X 48932500 48932500 single base substitution C T downstream_gene_variant READ-US X 48932500 48932500 single base substitution C T exon_variant READ-US X 48932500 48932500 single base substitution C T intron_variant READ-US X 48932500 48932500 single base substitution C T missense_variant D275N 823G>A READ-US X 48932500 48932500 single base substitution C T missense_variant D314N 940G>A READ-US X 48932500 48932500 single base substitution C T missense_variant D335N 1003G>A READ-US X 48932500 48932500 single base substitution C T missense_variant D349N 1045G>A READ-US X 48932500 48932500 single base substitution C T missense_variant D350N 1048G>A READ-US X 48932500 48932500 single base substitution C T missense_variant D360N 1078G>A READ-US X 48932500 48932500 single base substitution C T missense_variant D69N 205G>A RECA-EU X 48924461 48924461 single base substitution C T downstream_gene_variant RECA-EU X 48936098 48936098 single base substitution T A downstream_gene_variant RECA-EU X 48936098 48936098 single base substitution T A intron_variant RECA-EU X 48936098 48936098 single base substitution T A upstream_gene_variant RECA-EU X 48938043 48938043 single base substitution T C intron_variant RECA-EU X 48938043 48938043 single base substitution T C upstream_gene_variant RECA-EU X 48944827 48944827 single base substitution G T intron_variant SKCA-BR X 48925146 48925146 single base substitution A G downstream_gene_variant SKCA-BR X 48928051 48928051 single base substitution A G downstream_gene_variant SKCA-BR X 48928807 48928807 single base substitution G A downstream_gene_variant SKCA-BR X 48928809 48928809 single base substitution A T downstream_gene_variant SKCA-BR X 48932577 48932577 single base substitution G A downstream_gene_variant SKCA-BR X 48932577 48932577 single base substitution G A exon_variant SKCA-BR X 48932577 48932577 single base substitution G A intron_variant SKCA-BR X 48933702 48933702 single base substitution G A downstream_gene_variant SKCA-BR X 48933702 48933702 single base substitution G A intron_variant SKCA-BR X 48933702 48933702 single base substitution G A upstream_gene_variant SKCA-BR X 48934775 48934775 single base substitution A G downstream_gene_variant SKCA-BR X 48934775 48934775 single base substitution A G exon_variant SKCA-BR X 48934775 48934775 single base substitution A G intron_variant SKCA-BR X 48934775 48934775 single base substitution A G upstream_gene_variant SKCA-BR X 48935983 48935983 single base substitution T A downstream_gene_variant SKCA-BR X 48935983 48935983 single base substitution T A intron_variant SKCA-BR X 48935983 48935983 single base substitution T A upstream_gene_variant SKCA-BR X 48938467 48938467 insertion of <=200bp - TA intron_variant SKCA-BR X 48938467 48938467 insertion of <=200bp - TA upstream_gene_variant SKCA-BR X 48939661 48939661 single base substitution G A intron_variant SKCA-BR X 48939661 48939661 single base substitution G A upstream_gene_variant SKCA-BR X 48940539 48940539 single base substitution T C intron_variant SKCA-BR X 48940539 48940539 single base substitution T C upstream_gene_variant SKCA-BR X 48942354 48942354 single base substitution G A intron_variant SKCA-BR X 48942354 48942354 single base substitution G A upstream_gene_variant SKCA-BR X 48945116 48945116 single base substitution A G intron_variant SKCA-BR X 48949380 48949380 single base substitution G A intron_variant SKCA-BR X 48950467 48950468 deletion of <=200bp CT - intron_variant SKCA-BR X 48954046 48954046 insertion of <=200bp - CT intron_variant SKCA-BR X 48955245 48955245 single base substitution A T intron_variant SKCM-US X 48931591 48931591 single base substitution G A downstream_gene_variant SKCM-US X 48931591 48931591 single base substitution G A intron_variant SKCM-US X 48934105 48934105 single base substitution G A downstream_gene_variant SKCM-US X 48934105 48934105 single base substitution G A exon_variant SKCM-US X 48934105 48934105 single base substitution G A intron_variant SKCM-US X 48934105 48934105 single base substitution G A synonymous_variant T105T 315C>T SKCM-US X 48934105 48934105 single base substitution G A synonymous_variant T106T 318C>T SKCM-US X 48934105 48934105 single base substitution G A synonymous_variant T140T 420C>T SKCM-US X 48934105 48934105 single base substitution G A synonymous_variant T141T 423C>T SKCM-US X 48934105 48934105 single base substitution G A synonymous_variant T158T 474C>T SKCM-US X 48934105 48934105 single base substitution G A synonymous_variant T165T 495C>T SKCM-US X 48934105 48934105 single base substitution G A synonymous_variant T96T 288C>T SKCM-US X 48934105 48934105 single base substitution G A upstream_gene_variant STAD-US X 48925127 48925127 single base substitution G A downstream_gene_variant STAD-US X 48925140 48925140 deletion of <=200bp G - downstream_gene_variant STAD-US X 48925339 48925339 single base substitution G A downstream_gene_variant STAD-US X 48931588 48931588 single base substitution G A downstream_gene_variant STAD-US X 48931588 48931588 single base substitution G A intron_variant STAD-US X 48933099 48933101 deletion of <=200bp AGG - disruptive_inframe_deletion SF148F STAD-US X 48933099 48933101 deletion of <=200bp AGG - disruptive_inframe_deletion SF176F STAD-US X 48933099 48933101 deletion of <=200bp AGG - disruptive_inframe_deletion SF215F STAD-US X 48933099 48933101 deletion of <=200bp AGG - disruptive_inframe_deletion SF250F STAD-US X 48933099 48933101 deletion of <=200bp AGG - disruptive_inframe_deletion SF251F STAD-US X 48933099 48933101 deletion of <=200bp AGG - disruptive_inframe_deletion SF261F STAD-US X 48933099 48933101 deletion of <=200bp AGG - disruptive_inframe_deletion SF78F STAD-US X 48933099 48933101 deletion of <=200bp AGG - downstream_gene_variant STAD-US X 48933099 48933101 deletion of <=200bp AGG - exon_variant STAD-US X 48933099 48933101 deletion of <=200bp AGG - intron_variant STAD-US X 48933099 48933101 deletion of <=200bp AGG - upstream_gene_variant STAD-US X 48933234 48933234 single base substitution C T downstream_gene_variant STAD-US X 48933234 48933234 single base substitution C T exon_variant STAD-US X 48933234 48933234 single base substitution C T missense_variant R130H 389G>A STAD-US X 48933234 48933234 single base substitution C T missense_variant R158H 473G>A STAD-US X 48933234 48933234 single base substitution C T missense_variant R197H 590G>A STAD-US X 48933234 48933234 single base substitution C T missense_variant R232H 695G>A STAD-US X 48933234 48933234 single base substitution C T missense_variant R233H 698G>A STAD-US X 48933234 48933234 single base substitution C T missense_variant R243H 728G>A STAD-US X 48933234 48933234 single base substitution C T missense_variant R60H 179G>A STAD-US X 48933234 48933234 single base substitution C T upstream_gene_variant STAD-US X 48934088 48934088 single base substitution C T downstream_gene_variant STAD-US X 48934088 48934088 single base substitution C T intron_variant STAD-US X 48934088 48934088 single base substitution C T splice_donor_variant STAD-US X 48934088 48934088 single base substitution C T upstream_gene_variant STAD-US X 48934155 48934155 single base substitution A G downstream_gene_variant STAD-US X 48934155 48934155 single base substitution A G exon_variant STAD-US X 48934155 48934155 single base substitution A G intron_variant STAD-US X 48934155 48934155 single base substitution A G missense_variant Y124H 370T>C STAD-US X 48934155 48934155 single base substitution A G missense_variant Y125H 373T>C STAD-US X 48934155 48934155 single base substitution A G missense_variant Y142H 424T>C STAD-US X 48934155 48934155 single base substitution A G missense_variant Y149H 445T>C STAD-US X 48934155 48934155 single base substitution A G missense_variant Y80H 238T>C STAD-US X 48934155 48934155 single base substitution A G missense_variant Y89H 265T>C STAD-US X 48934155 48934155 single base substitution A G missense_variant Y90H 268T>C STAD-US X 48934155 48934155 single base substitution A G upstream_gene_variant THCA-SA X 48925232 48925232 single base substitution G A downstream_gene_variant THCA-US X 48933589 48933589 single base substitution C A downstream_gene_variant THCA-US X 48933589 48933589 single base substitution C A exon_variant THCA-US X 48933589 48933589 single base substitution C A missense_variant C107F 320G>T THCA-US X 48933589 48933589 single base substitution C A missense_variant C116F 347G>T THCA-US X 48933589 48933589 single base substitution C A missense_variant C117F 350G>T THCA-US X 48933589 48933589 single base substitution C A missense_variant C127F 380G>T THCA-US X 48933589 48933589 single base substitution C A missense_variant C151F 452G>T THCA-US X 48933589 48933589 single base substitution C A missense_variant C152F 455G>T THCA-US X 48933589 48933589 single base substitution C A missense_variant C162F 485G>T THCA-US X 48933589 48933589 single base substitution C A missense_variant C169F 506G>T THCA-US X 48933589 48933589 single base substitution C A missense_variant C176F 527G>T THCA-US X 48933589 48933589 single base substitution C A missense_variant C49F 146G>T THCA-US X 48933589 48933589 single base substitution C A missense_variant C84F 251G>T THCA-US X 48933589 48933589 single base substitution C A upstream_gene_variant UCEC-US X 48924828 48924828 single base substitution G T downstream_gene_variant UCEC-US X 48929606 48929606 single base substitution G T downstream_gene_variant UCEC-US X 48929606 48929606 single base substitution G T synonymous_variant I267I 801C>A UCEC-US X 48932468 48932468 single base substitution G T 3_prime_UTR_variant UCEC-US X 48932468 48932468 single base substitution G T downstream_gene_variant UCEC-US X 48932468 48932468 single base substitution G T exon_variant UCEC-US X 48932468 48932468 single base substitution G T intron_variant UCEC-US X 48932468 48932468 single base substitution G T missense_variant D285E 855C>A UCEC-US X 48932468 48932468 single base substitution G T missense_variant D324E 972C>A UCEC-US X 48932468 48932468 single base substitution G T missense_variant D345E 1035C>A UCEC-US X 48932468 48932468 single base substitution G T missense_variant D359E 1077C>A UCEC-US X 48932468 48932468 single base substitution G T missense_variant D360E 1080C>A UCEC-US X 48932468 48932468 single base substitution G T missense_variant D370E 1110C>A UCEC-US X 48932468 48932468 single base substitution G T missense_variant D79E 237C>A UCEC-US X 48932479 48932479 single base substitution C T 3_prime_UTR_variant UCEC-US X 48932479 48932479 single base substitution C T downstream_gene_variant UCEC-US X 48932479 48932479 single base substitution C T exon_variant UCEC-US X 48932479 48932479 single base substitution C T intron_variant UCEC-US X 48932479 48932479 single base substitution C T missense_variant D282N 844G>A UCEC-US X 48932479 48932479 single base substitution C T missense_variant D321N 961G>A UCEC-US X 48932479 48932479 single base substitution C T missense_variant D342N 1024G>A UCEC-US X 48932479 48932479 single base substitution C T missense_variant D356N 1066G>A UCEC-US X 48932479 48932479 single base substitution C T missense_variant D357N 1069G>A UCEC-US X 48932479 48932479 single base substitution C T missense_variant D367N 1099G>A UCEC-US X 48932479 48932479 single base substitution C T missense_variant D76N 226G>A UCEC-US X 48932827 48932827 single base substitution C T downstream_gene_variant UCEC-US X 48932827 48932827 single base substitution C T exon_variant UCEC-US X 48932827 48932827 single base substitution C T intron_variant UCEC-US X 48932827 48932827 single base substitution C T missense_variant R240H 719G>A UCEC-US X 48932827 48932827 single base substitution C T missense_variant R279H 836G>A UCEC-US X 48932827 48932827 single base substitution C T missense_variant R300H 899G>A UCEC-US X 48932827 48932827 single base substitution C T missense_variant R314H 941G>A UCEC-US X 48932827 48932827 single base substitution C T missense_variant R315H 944G>A UCEC-US X 48932827 48932827 single base substitution C T missense_variant R325H 974G>A UCEC-US X 48932827 48932827 single base substitution C T missense_variant R38H 113G>A UCEC-US X 48932828 48932828 single base substitution G A downstream_gene_variant UCEC-US X 48932828 48932828 single base substitution G A exon_variant UCEC-US X 48932828 48932828 single base substitution G A intron_variant UCEC-US X 48932828 48932828 single base substitution G A missense_variant R240C 718C>T UCEC-US X 48932828 48932828 single base substitution G A missense_variant R279C 835C>T UCEC-US X 48932828 48932828 single base substitution G A missense_variant R300C 898C>T UCEC-US X 48932828 48932828 single base substitution G A missense_variant R314C 940C>T UCEC-US X 48932828 48932828 single base substitution G A missense_variant R315C 943C>T UCEC-US X 48932828 48932828 single base substitution G A missense_variant R325C 973C>T UCEC-US X 48932828 48932828 single base substitution G A missense_variant R38C 112C>T UCEC-US X 48932903 48932903 single base substitution G A downstream_gene_variant UCEC-US X 48932903 48932903 single base substitution G A exon_variant UCEC-US X 48932903 48932903 single base substitution G A intron_variant UCEC-US X 48932903 48932903 single base substitution G A stop_gained Q13* 37C>T UCEC-US X 48932903 48932903 single base substitution G A stop_gained Q215* 643C>T UCEC-US X 48932903 48932903 single base substitution G A stop_gained Q254* 760C>T UCEC-US X 48932903 48932903 single base substitution G A stop_gained Q275* 823C>T UCEC-US X 48932903 48932903 single base substitution G A stop_gained Q289* 865C>T UCEC-US X 48932903 48932903 single base substitution G A stop_gained Q290* 868C>T UCEC-US X 48932903 48932903 single base substitution G A stop_gained Q300* 898C>T UCEC-US X 48933022 48933022 single base substitution C T downstream_gene_variant UCEC-US X 48933022 48933022 single base substitution C T exon_variant UCEC-US X 48933022 48933022 single base substitution C T intron_variant UCEC-US X 48933022 48933022 single base substitution C T splice_donor_variant UCEC-US X 48933022 48933022 single base substitution C T upstream_gene_variant UCEC-US X 48933229 48933229 single base substitution C G downstream_gene_variant UCEC-US X 48933229 48933229 single base substitution C G exon_variant UCEC-US X 48933229 48933229 single base substitution C G missense_variant G132R 394G>C UCEC-US X 48933229 48933229 single base substitution C G missense_variant G160R 478G>C UCEC-US X 48933229 48933229 single base substitution C G missense_variant G199R 595G>C UCEC-US X 48933229 48933229 single base substitution C G missense_variant G234R 700G>C UCEC-US X 48933229 48933229 single base substitution C G missense_variant G235R 703G>C UCEC-US X 48933229 48933229 single base substitution C G missense_variant G245R 733G>C UCEC-US X 48933229 48933229 single base substitution C G missense_variant G62R 184G>C UCEC-US X 48933229 48933229 single base substitution C G upstream_gene_variant UCEC-US X 48933246 48933246 single base substitution A C downstream_gene_variant UCEC-US X 48933246 48933246 single base substitution A C exon_variant UCEC-US X 48933246 48933246 single base substitution A C missense_variant L126R 377T>G UCEC-US X 48933246 48933246 single base substitution A C missense_variant L154R 461T>G UCEC-US X 48933246 48933246 single base substitution A C missense_variant L193R 578T>G UCEC-US X 48933246 48933246 single base substitution A C missense_variant L228R 683T>G UCEC-US X 48933246 48933246 single base substitution A C missense_variant L229R 686T>G UCEC-US X 48933246 48933246 single base substitution A C missense_variant L239R 716T>G UCEC-US X 48933246 48933246 single base substitution A C missense_variant L56R 167T>G UCEC-US X 48933246 48933246 single base substitution A C upstream_gene_variant UCEC-US X 48934103 48934103 single base substitution C T downstream_gene_variant UCEC-US X 48934103 48934103 single base substitution C T exon_variant UCEC-US X 48934103 48934103 single base substitution C T intron_variant UCEC-US X 48934103 48934103 single base substitution C T missense_variant R106Q 317G>A UCEC-US X 48934103 48934103 single base substitution C T missense_variant R107Q 320G>A UCEC-US X 48934103 48934103 single base substitution C T missense_variant R141Q 422G>A UCEC-US X 48934103 48934103 single base substitution C T missense_variant R142Q 425G>A UCEC-US X 48934103 48934103 single base substitution C T missense_variant R159Q 476G>A UCEC-US X 48934103 48934103 single base substitution C T missense_variant R166Q 497G>A UCEC-US X 48934103 48934103 single base substitution C T missense_variant R97Q 290G>A UCEC-US X 48934103 48934103 single base substitution C T upstream_gene_variant UCEC-US X 48934314 48934314 single base substitution G A downstream_gene_variant UCEC-US X 48934314 48934314 single base substitution G A exon_variant UCEC-US X 48934314 48934314 single base substitution G A intron_variant UCEC-US X 48934314 48934314 single base substitution G A missense_variant R111C 331C>T UCEC-US X 48934314 48934314 single base substitution G A missense_variant R112C 334C>T UCEC-US X 48934314 48934314 single base substitution G A missense_variant R129C 385C>T UCEC-US X 48934314 48934314 single base substitution G A missense_variant R136C 406C>T UCEC-US X 48934314 48934314 single base substitution G A missense_variant R67C 199C>T UCEC-US X 48934314 48934314 single base substitution G A missense_variant R76C 226C>T UCEC-US X 48934314 48934314 single base substitution G A missense_variant R77C 229C>T UCEC-US X 48934314 48934314 single base substitution G A upstream_gene_variant UCEC-US X 48934320 48934320 single base substitution G A downstream_gene_variant UCEC-US X 48934320 48934320 single base substitution G A exon_variant UCEC-US X 48934320 48934320 single base substitution G A intron_variant UCEC-US X 48934320 48934320 single base substitution G A missense_variant R109C 325C>T UCEC-US X 48934320 48934320 single base substitution G A missense_variant R110C 328C>T UCEC-US X 48934320 48934320 single base substitution G A missense_variant R127C 379C>T UCEC-US X 48934320 48934320 single base substitution G A missense_variant R134C 400C>T UCEC-US X 48934320 48934320 single base substitution G A missense_variant R65C 193C>T UCEC-US X 48934320 48934320 single base substitution G A missense_variant R74C 220C>T UCEC-US X 48934320 48934320 single base substitution G A missense_variant R75C 223C>T UCEC-US X 48934320 48934320 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-B5-A0K3-01 COSM1122337 c.868C>T p.Q290* Substitution - Nonsense 23:49075244-49075244 - HCC57 COSM1625954 c.831-5T>A p.? Unknown 23:49075286-49075286 - TCGA-BH-A0B6-01 COSM3844899 c.294G>A p.E98E Substitution - coding silent 23:49076692-49076692 - HCT15 COSM2966913 c.874G>A p.V292M Substitution - Missense 23:49075238-49075238 - B90 COSM1756607 c.883C>T p.Q295* Substitution - Nonsense 23:49075229-49075229 - OSCC-GB_00380111 COSM3713954 c.145G>T p.G49C Substitution - Missense 23:49077733-49077733 - CHC1154T COSM4952176 c.845G>A p.G282D Substitution - Missense 23:49075267-49075267 - TCGA-B5-A11Y-01 COSM1122338 c.830+1G>A p.? Unknown 23:49075363-49075363 - TCGA-B5-A0K3-01 COSM4874417 c.898C>T p.Q300* Substitution - Nonsense 23:49075244-49075244 - HCT15 COSM4379572 c.904G>A p.V302M Substitution - Missense 23:49075238-49075238 - TCGA-IR-A3LA-01 COSM4844862 c.1099G>A p.D367N Substitution - Missense 23:49074820-49074820 - TCGA-FU-A3HZ-01 COSM4379586 c.19C>T p.R7* Substitution - Nonsense 23:49078077-49078077 - TCGA-22-0944-01 COSM757094 c.854G>A p.G285E Substitution - Missense 23:49075258-49075258 - TCGA-EE-A2A2-06 COSM3562035 c.423C>T p.T141T Substitution - coding silent 23:49076446-49076446 - BD72T COSM5513802 c.55+4A>T p.? Unknown 23:49078037-49078037 - PD4203a COSM4379571 c.969C>T p.F323F Substitution - coding silent 23:49075173-49075173 - BD71T COSM4109868 c.698G>A p.R233H Substitution - Missense 23:49075575-49075575 - TCGA-34-5240-01 COSM757092 c.7C>T p.Q3* Substitution - Nonsense 23:49078089-49078089 - B9-Tumor COSM4005137 c.913C>T p.Q305* Substitution - Nonsense 23:49075229-49075229 - TCGA-34-5240-01 COSM4858598 c.7C>T p.Q3* Substitution - Nonsense 23:49078089-49078089 - TCGA-AA-3492-01 COSM4948849 c.686G>A p.R229H Substitution - Missense 23:49075617-49075617 - S01020 COSM5665503 c.122G>T p.G41V Substitution - Missense 23:49077845-49077845 - B86 COSM79098 c.629C>A p.S210* Substitution - Nonsense 23:49075644-49075644 - TCGA-B5-A11U-01 COSM1122341 c.425G>A p.R142Q Substitution - Missense 23:49076444-49076444 - TCGA-60-2708-01 COSM4863087 c.816C>A p.V272V Substitution - coding silent 23:49075408-49075408 - TARGET-20-PANLIR-09A-02D COSM5487267 c.689T>C p.L230P Substitution - Missense 23:49075614-49075614 - Pat_06_A COSM5877967 c.176G>A p.R59H Substitution - Missense 23:49077702-49077702 - T2944 COSM4740966 c.697C>T p.R233C Substitution - Missense 23:49075576-49075576 - Pat_06_A COSM5877968 c.176G>A p.R59H Substitution - Missense 23:49077702-49077702 - TCGA-14-3476-01 COSM3406440 c.175C>T p.R59C Substitution - Missense 23:49077703-49077703 - T80 COSM1177525 c.821G>A p.R274H Substitution - Missense 23:49075373-49075373 - T2987 COSM4740968 c.488C>T p.P163L Substitution - Missense 23:49075897-49075897 - TCGA-AP-A0LM-01 COSM4844862 c.1099G>A p.D367N Substitution - Missense 23:49074820-49074820 - Gp2D COSM2966918 c.700C>T p.R234* Substitution - Nonsense 23:49075573-49075573 - TCGA-FU-A3HZ-01 COSM4839479 c.332G>A p.R111H Substitution - Missense 23:49076654-49076654 - CHC2200T COSM4952914 c.459C>A p.P153P Substitution - coding silent 23:49075926-49075926 - MD-326 COSM303563 c.148A>C p.S50R Substitution - Missense 23:49077730-49077730 - CHC2200T COSM4952913 c.489C>A p.P163P Substitution - coding silent 23:49075926-49075926 - ICGC_MB127 COSM303563 c.148A>C p.S50R Substitution - Missense 23:49077730-49077730 - S02120 COSM5673878 c.830+1G>T p.? Unknown 23:49075363-49075363 - CSCC-49-T COSM4494487 c.433C>T p.P145S Substitution - Missense 23:49076436-49076436 - TCGA-G2-A3VY-01 COSM3800641 c.933C>T p.F311F Substitution - coding silent 23:49075209-49075209 - HCT8 COSM4379572 c.904G>A p.V302M Substitution - Missense 23:49075238-49075238 - pfg146T COSM4754729 c.275C>A p.S92Y Substitution - Missense 23:49076714-49076714 - TCGA-JW-A5VL-01 COSM4847775 c.1078G>A p.D360N Substitution - Missense 23:49074811-49074811 - TCGA-EE-A2A2-06 COSM3562034 c.420C>T p.T140T Substitution - coding silent 23:49076446-49076446 - T2269 COSM4379586 c.19C>T p.R7* Substitution - Nonsense 23:49078077-49078077 - TCGA-IR-A3LA-01 COSM1122334 c.1069G>A p.D357N Substitution - Missense 23:49074820-49074820 - TCGA-CM-6163-01 COSM4783925 c.397C>T p.R133* Substitution - Nonsense 23:49076469-49076469 - ESCC_156 COSM5646105 c.679C>G p.L227V Substitution - Missense 23:49075624-49075624 - TCGA-DK-A3IQ-01 COSM1315561 c.698G>T p.R233L Substitution - Missense 23:49075575-49075575 - RKO COSM165573 c.939C>T p.F313F Substitution - coding silent 23:49075173-49075173 - TCGA-DD-A73C-01 COSM4916686 c.852C>T p.R284R Substitution - coding silent 23:49075372-49075372 - TCGA-IR-A3LL-01 COSM4850001 c.960C>G p.I320M Substitution - Missense 23:49075182-49075182 - pfg122T COSM4754731 c.120G>T p.K40N Substitution - Missense 23:49077847-49077847 - TCGA-D1-A17A-01 COSM1122336 c.943C>T p.R315C Substitution - Missense 23:49075169-49075169 - CHC1154T COSM4952175 c.875G>A p.G292D Substitution - Missense 23:49075267-49075267 - Gp2D COSM4379576 c.730C>T p.R244* Substitution - Nonsense 23:49075573-49075573 - TCGA-DK-A3X1-01 COSM3800643 c.659C>G p.S220* Substitution - Nonsense 23:49075644-49075644 - TCGA-13-1496-01 COSM79098 c.629C>A p.S210* Substitution - Nonsense 23:49075644-49075644 - 13542 COSM757093 c.786C>A p.V262V Substitution - coding silent 23:49075408-49075408 - TCGA-DD-A73C-01 COSM4916687 c.822C>T p.R274R Substitution - coding silent 23:49075372-49075372 - Gp5D COSM4379577 c.628T>C p.S210P Substitution - Missense 23:49075675-49075675 - ACINAR01 COSM1122342 c.334C>T p.R112C Substitution - Missense 23:49076655-49076655 - TCGA-AP-A051-01 COSM1122343 c.328C>T p.R110C Substitution - Missense 23:49076661-49076661 - T2269 COSM2966928 c.19C>T p.R7* Substitution - Nonsense 23:49078077-49078077 - TCGA-FU-A3HZ-01 COSM1166105 c.335G>A p.R112H Substitution - Missense 23:49076654-49076654 - TCGA-D1-A16X-01 COSM1122340 c.686T>G p.L229R Substitution - Missense 23:49075587-49075587 - TCGA-BH-A18G-01 COSM5100801 c.454_455insC p.H152fs*9 Insertion - Frameshift 23:49075960-49075961 - pfg146T COSM4754728 c.272C>A p.S91Y Substitution - Missense 23:49076714-49076714 - BD72T COSM5513801 c.55+4A>T p.? Unknown 23:49078037-49078037 - TCGA-D1-A17A-01 COSM4872048 c.973C>T p.R325C Substitution - Missense 23:49075169-49075169 - RK106_C01 COSM1636561 c.345-1G>A p.? Unknown 23:49076525-49076525 - RKO COSM4379571 c.969C>T p.F323F Substitution - coding silent 23:49075173-49075173 - TCGA-G2-A3VY-01 COSM3800642 c.903C>T p.F301F Substitution - coding silent 23:49075209-49075209 - LAU63 COSM235570 c.187C>T p.L63L Substitution - coding silent 23:49077691-49077691 - TCGA-AA-3492-01 COSM1468312 c.656G>A p.R219H Substitution - Missense 23:49075617-49075617 - TCGA-DK-A3IQ-01 COSM4811156 c.728G>T p.R243L Substitution - Missense 23:49075575-49075575 - TCGA-AP-A0LE-01 COSM4871050 c.733G>C p.G245R Substitution - Missense 23:49075570-49075570 - TCGA-B6-A0X1-01 COSM457629 c.1022A>G p.D341G Substitution - Missense 23:49074867-49074867 - TCGA-14-3476-01 COSM3406441 c.175C>T p.R59C Substitution - Missense 23:49077703-49077703 - TCGA-D5-6927-01 COSM1122335 c.944G>A p.R315H Substitution - Missense 23:49075168-49075168 - TCGA-AX-A060-01 COSM1122335 c.944G>A p.R315H Substitution - Missense 23:49075168-49075168 - YUJUBE COSM5412778 c.279G>A p.K93K Substitution - coding silent 23:49076710-49076710 - TCGA-DA-A1HY-06 COSM3562034 c.420C>T p.T140T Substitution - coding silent 23:49076446-49076446 - TCGA-IR-A3LL-01 COSM4850002 c.930C>G p.I310M Substitution - Missense 23:49075182-49075182 - TCGA-B5-A11Y-01 COSM4864193 c.860+1G>A p.? Unknown 23:49075363-49075363 - Gp5D COSM2966918 c.700C>T p.R234* Substitution - Nonsense 23:49075573-49075573 - B86-Tumor COSM4005138 c.659C>A p.S220* Substitution - Nonsense 23:49075644-49075644 - TCGA-BR-4267-01 COSM4109872 c.373T>C p.Y125H Substitution - Missense 23:49076496-49076496 - XHDG08 COSM4768528 c.1032C>G p.H344Q Substitution - Missense 23:49074887-49074887 - B90-Tumor COSM1756607 c.883C>T p.Q295* Substitution - Nonsense 23:49075229-49075229 - TCGA-BR-4267-01 COSM4109871 c.370T>C p.Y124H Substitution - Missense 23:49076496-49076496 - CSCC-49-T COSM4494486 c.430C>T p.P144S Substitution - Missense 23:49076436-49076436 - TCGA-BS-A0TC-01 COSM4871263 c.1110C>A p.D370E Substitution - Missense 23:49074809-49074809 - ESCC_156 COSM5646106 c.649C>G p.L217V Substitution - Missense 23:49075624-49075624 - 38T COSM3713954 c.145G>T p.G49C Substitution - Missense 23:49077733-49077733 - TCGA-AP-A051-01 COSM4872456 c.325C>T p.R109C Substitution - Missense 23:49076661-49076661 - 13542 COSM4863087 c.816C>A p.V272V Substitution - coding silent 23:49075408-49075408 - TCGA-BJ-A2N9-01 COSM4413872 c.485G>T p.C162F Substitution - Missense 23:49075930-49075930 - ICGC_MB127 COSM3765014 c.148A>C p.S50R Substitution - Missense 23:49077730-49077730 - TCGA-CK-5916-01 COSM3694623 c.960C>T p.N320N Substitution - coding silent 23:49075152-49075152 - HCC2998 COSM4379586 c.19C>T p.R7* Substitution - Nonsense 23:49078077-49078077 - LC_S46 COSM1190544 c.688G>C p.V230L Substitution - Missense 23:49075585-49075585 - LUAD_E00522 COSM388776 c.343A>T p.K115* Substitution - Nonsense 23:49076646-49076646 - TCGA-B5-A11E-01 COSM1122342 c.334C>T p.R112C Substitution - Missense 23:49076655-49076655 - TCGA-CD-8531-01 COSM4109869 c.436+1G>A p.? Unknown 23:49076429-49076429 - LIM2551 COSM4644972 c.545T>G p.L182R Substitution - Missense 23:49075870-49075870 - TCGA-AP-A0LE-01 COSM1122339 c.703G>C p.G235R Substitution - Missense 23:49075570-49075570 - TCGA-CK-5916-01 COSM3694622 c.990C>T p.N330N Substitution - coding silent 23:49075152-49075152 - CHC1154T COSM4952175 c.875G>A p.G292D Substitution - Missense 23:49075267-49075267 - TCGA-D5-6927-01 COSM4783250 c.974G>A p.R325H Substitution - Missense 23:49075168-49075168 - TCGA-22-0944-01 COSM4862125 c.884G>A p.G295E Substitution - Missense 23:49075258-49075258 - LC_C26 COSM1190545 c.20G>A p.R7Q Substitution - Missense 23:49078076-49078076 - TCGA-JW-A5VL-01 COSM4847774 c.1108G>A p.D370N Substitution - Missense 23:49074811-49074811 - TCGA-CM-6163-01 COSM1468314 c.400C>T p.R134* Substitution - Nonsense 23:49076469-49076469 - LUAD-NYU696 COSM376140 c.708_709TG>TC p.T236>? Complex 23:49075564-49075565 - TCGA-AP-A0LM-01 COSM1122334 c.1069G>A p.D357N Substitution - Missense 23:49074820-49074820 - TCGA-DA-A1HY-06 COSM3562035 c.423C>T p.T141T Substitution - coding silent 23:49076446-49076446 - DLD1 COSM2966913 c.874G>A p.V292M Substitution - Missense 23:49075238-49075238 - LUAD-NYU263 COSM372347 c.354C>A p.I118I Substitution - coding silent 23:49076515-49076515 - PD4203a COSM165573 c.939C>T p.F313F Substitution - coding silent 23:49075173-49075173 - CA1 COSM1166105 c.335G>A p.R112H Substitution - Missense 23:49076654-49076654 - TCGA-BH-A0B6-01 COSM3844900 c.297G>A p.E99E Substitution - coding silent 23:49076692-49076692 - PT49 COSM5936828 c.665C>T p.S222F Substitution - Missense 23:49075638-49075638 - Gp5D COSM4379576 c.730C>T p.R244* Substitution - Nonsense 23:49075573-49075573 - PT49 COSM5936829 c.635C>T p.S212F Substitution - Missense 23:49075638-49075638 - 90245 COSM330208 c.587_588delTA p.I196fs*26 Deletion - Frameshift 23:49075685-49075686 - CHC1154T COSM4952176 c.845G>A p.G282D Substitution - Missense 23:49075267-49075267 - BD71T COSM4109867 c.728G>A p.R243H Substitution - Missense 23:49075575-49075575 - HCC2998 COSM2966928 c.19C>T p.R7* Substitution - Nonsense 23:49078077-49078077 - B90-Tumor COSM4005137 c.913C>T p.Q305* Substitution - Nonsense 23:49075229-49075229 - PT33 COSM3424834 c.1048G>A p.D350N Substitution - Missense 23:49074841-49074841 - TCGA-FU-A3HZ-01 COSM2966928 c.19C>T p.R7* Substitution - Nonsense 23:49078077-49078077 - pfg105T COSM4754727 c.569A>G p.N190S Substitution - Missense 23:49075704-49075704 - TARGET-20-PANLIR-09A-02D COSM5487268 c.659T>C p.L220P Substitution - Missense 23:49075614-49075614 - TCGA-BR-8081-01 COSM4109868 c.698G>A p.R233H Substitution - Missense 23:49075575-49075575 - TCGA-BR-8081-01 COSM4109867 c.728G>A p.R243H Substitution - Missense 23:49075575-49075575 - CHC2200T COSM4952914 c.459C>A p.P153P Substitution - coding silent 23:49075926-49075926 - S01020 COSM5665504 c.122G>T p.G41V Substitution - Missense 23:49077845-49077845 - XHDG08 COSM4768529 c.1002C>G p.H334Q Substitution - Missense 23:49074887-49074887 - LIM2551 COSM4644973 c.515T>G p.L172R Substitution - Missense 23:49075870-49075870 - S02120 COSM5673877 c.860+1G>T p.? Unknown 23:49075363-49075363 - TCGA-B5-A11E-01 COSM4870190 c.331C>T p.R111C Substitution - Missense 23:49076655-49076655 - TCGA-CD-8531-01 COSM4109870 c.439+1G>A p.? Unknown 23:49076429-49076429 - TCGA-B5-A11U-01 COSM4871197 c.422G>A p.R141Q Substitution - Missense 23:49076444-49076444 - sysucc-311T COSM5467897 c.70G>A p.A24T Substitution - Missense 23:49077897-49077897 - T2944 COSM4740965 c.727C>T p.R243C Substitution - Missense 23:49075576-49075576 - TCGA-60-2708-01 COSM757093 c.786C>A p.V262V Substitution - coding silent 23:49075408-49075408 - YUJUBE COSM5412777 c.276G>A p.K92K Substitution - coding silent 23:49076710-49076710 - OSCC-GB_00380111 COSM3713955 c.145G>T p.G49C Substitution - Missense 23:49077733-49077733 - TCGA-B6-A0X1-01 COSM4816256 c.1052A>G p.D351G Substitution - Missense 23:49074867-49074867 - TCGA-AX-A060-01 COSM4783250 c.974G>A p.R325H Substitution - Missense 23:49075168-49075168 - DLD1 COSM4379572 c.904G>A p.V302M Substitution - Missense 23:49075238-49075238 - sysucc-311T COSM5467896 c.70G>A p.A24T Substitution - Missense 23:49077897-49077897 - B9-Tumor COSM1756607 c.883C>T p.Q295* Substitution - Nonsense 23:49075229-49075229 - HCC037T COSM5811943 c.89G>T p.R30L Substitution - Missense 23:49077878-49077878 - HCC037T COSM5811944 c.89G>T p.R30L Substitution - Missense 23:49077878-49077878 - PT33 COSM3424833 c.1078G>A p.D360N Substitution - Missense 23:49074841-49074841 - HCC57T COSM1625954 c.831-5T>A p.? Unknown 23:49075286-49075286 - TCGA-D1-A16X-01 COSM4865725 c.716T>G p.L239R Substitution - Missense 23:49075587-49075587 - B86-Tumor COSM79098 c.629C>A p.S210* Substitution - Nonsense 23:49075644-49075644 - TCGA-AC-A23H-01 COSM3844901 c.87G>C p.V29V Substitution - coding silent 23:49077880-49077880 - 38T COSM3713955 c.145G>T p.G49C Substitution - Missense 23:49077733-49077733 - TCGA-AC-A23H-01 COSM3844902 c.87G>C p.V29V Substitution - coding silent 23:49077880-49077880 - CRC-29T COSM5452254 c.827_828CC>GG p.S276W Substitution - Missense 23:49075366-49075367 - TCGA-BJ-A2N9-01 COSM4413873 c.455G>T p.C152F Substitution - Missense 23:49075930-49075930 - TCGA-DK-A3X1-01 COSM3800644 c.629C>G p.S210* Substitution - Nonsense 23:49075644-49075644 - CHC2200T COSM4952913 c.489C>A p.P163P Substitution - coding silent 23:49075926-49075926 - T2987 COSM4740967 c.518C>T p.P173L Substitution - Missense 23:49075897-49075897 - TCGA-BS-A0TC-01 COSM1122333 c.1080C>A p.D360E Substitution - Missense 23:49074809-49074809 - Gp2D COSM4379577 c.628T>C p.S210P Substitution - Missense 23:49075675-49075675 - TCGA-F5-6814-01 COSM3424834 c.1048G>A p.D350N Substitution - Missense 23:49074841-49074841 - CRC-29T COSM5452253 c.857_858CC>GG p.S286W Substitution - Missense 23:49075366-49075367 - HCC57 COSM3708650 c.861-5T>A p.? Unknown 23:49075286-49075286 - HCT8 COSM2966913 c.874G>A p.V292M Substitution - Missense 23:49075238-49075238 - Gp2D COSM2966919 c.598T>C p.S200P Substitution - Missense 23:49075675-49075675 - RK106_C01 COSM4780703 c.342-1G>A p.? Unknown 23:49076525-49076525 - HCC57T COSM3708650 c.861-5T>A p.? Unknown 23:49075286-49075286 - pfg122T COSM4754730 c.120G>T p.K40N Substitution - Missense 23:49077847-49077847 - TCGA-F5-6814-01 COSM3424833 c.1078G>A p.D360N Substitution - Missense 23:49074841-49074841 - Gp5D COSM2966919 c.598T>C p.S200P Substitution - Missense 23:49075675-49075675 - pfg105T COSM4754726 c.599A>G p.N200S Substitution - Missense 23:49075704-49075704 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.632805;Hs.632807 Xp11.23 300526 2474080|CGAP|BC000464|C/T|non-coding||1386|Candidate; 2474080|CGAP|BC003037|C/T|non-coding||1386|Candidate; 2474080|CGAP|BC069206|C/T|non-coding||1662|Candidate; 1211613|dbSNP|BC069206|A/G|non-coding||306|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.Y125H c.373T>C X 48934155 STAD C T Missense p.G285E c.854G>A X 48932917 LUSC C T Missense p.R142Q c.425G>A X 48934103 UCEC C T Missense p.R315H c.944G>A X 48932827 UCEC G A Missense p.R315C c.943C>T X 48932828 UCEC G A Missense p.R59C c.175C>T X 48935362 GBM G A Nonsense p.Q290* c.868C>T X 48932903 UCEC G T Missense p.D360E c.1080C>A X 48932468 UCEC G T Missense p.R123S c.367C>A X 48934161 CM T C Missense p.D341G c.1022A>G X 48932526 BRCA T G Missense p.S50R c.148A>C X 48935389 MB