Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 5 114860257 114860257 + Silent SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr5:114860257G>A c.1602C>T c.(1600-1602)atC>atT p.I534I BLCA 5 114860288 114860288 + Missense_Mutation SNP C C G TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr5:114860288C>G c.1571G>C c.(1570-1572)aGa>aCa p.R524T BLCA 5 114860685 114860685 + Missense_Mutation SNP A A T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 g.chr5:114860685A>T c.1174T>A c.(1174-1176)Ttt>Att p.F392I BLCA 5 114861288 114861288 + Missense_Mutation SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr5:114861288C>G c.571G>C c.(571-573)Gaa>Caa p.E191Q BLCA 5 114878661 114878661 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr5:114878661C>G c.530G>C c.(529-531)aGa>aCa p.R177T BLCA 5 114879143 114879143 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr5:114879143G>A c.48C>T c.(46-48)ctC>ctT p.L16L BRCA 5 114860367 114860367 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr5:114860367C>A c.1492G>T c.(1492-1494)Ggg>Tgg p.G498W BRCA 5 114878898 114878898 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr5:114878898A>C c.293T>G c.(292-294)gTg>gGg p.V98G COAD 5 114860474 114860474 + Missense_Mutation SNP T T C TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr5:114860474T>C c.1385A>G c.(1384-1386)gAc>gGc p.D462G COAD 5 114860558 114860558 + Missense_Mutation SNP T T C TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr5:114860558T>C c.1301A>G c.(1300-1302)gAc>gGc p.D434G COAD 5 114860605 114860605 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:114860605G>A c.1254C>T c.(1252-1254)agC>agT p.S418S COAD 5 114878876 114878876 + Silent SNP A A G TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr5:114878876A>G c.315T>C c.(313-315)caT>caC p.H105H COAD 5 114879108 114879108 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:114879108T>C c.83A>G c.(82-84)aAa>aGa p.K28R COADREAD 5 114860474 114860474 + Missense_Mutation SNP T T C TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr5:114860474T>C c.1385A>G c.(1384-1386)gAc>gGc p.D462G COADREAD 5 114860474 114860474 + Missense_Mutation SNP T T C TCGA-DC-6157-01A-11D-1657-10 TCGA-DC-6157-10A-01D-1657-10 g.chr5:114860474T>C c.1385A>G c.(1384-1386)gAc>gGc p.D462G COADREAD 5 114860558 114860558 + Missense_Mutation SNP T T C TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr5:114860558T>C c.1301A>G c.(1300-1302)gAc>gGc p.D434G COADREAD 5 114860605 114860605 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:114860605G>A c.1254C>T c.(1252-1254)agC>agT p.S418S COADREAD 5 114860764 114860764 + Silent SNP C C T TCGA-AG-3898-01A-01W-1073-09 TCGA-AG-3898-10A-01W-1073-09 g.chr5:114860764C>T c.1095G>A c.(1093-1095)ttG>ttA p.L365L COADREAD 5 114878876 114878876 + Silent SNP A A G TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr5:114878876A>G c.315T>C c.(313-315)caT>caC p.H105H COADREAD 5 114879108 114879108 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:114879108T>C c.83A>G c.(82-84)aAa>aGa p.K28R ESCA 5 114860292 114860292 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 g.chr5:114860292C>T c.1567G>A c.(1567-1569)Gtc>Atc p.V523I ESCA 5 114860452 114860452 + Missense_Mutation SNP T T C TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 g.chr5:114860452T>C c.1407A>G c.(1405-1407)atA>atG p.I469M ESCA 5 114878803 114878803 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 g.chr5:114878803C>T c.388G>A c.(388-390)Gaa>Aaa p.E130K ESCA 5 114879143 114879143 + Silent SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 g.chr5:114879143G>A c.48C>T c.(46-48)ctC>ctT p.L16L GBMLGG 5 114860125 114860125 + Missense_Mutation SNP G G C TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 g.chr5:114860125G>C c.1734C>G c.(1732-1734)atC>atG p.I578M GBMLGG 5 114860793 114860793 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:114860793G>A c.1066C>T c.(1066-1068)Cga>Tga p.R356* HNSC 5 114860317 114860317 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr5:114860317C>T c.1542G>A c.(1540-1542)ctG>ctA p.L514L HNSC 5 114878763 114878763 + Missense_Mutation SNP T T C TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 g.chr5:114878763T>C c.428A>G c.(427-429)gAa>gGa p.E143G KIPAN 5 114860103 114860103 + Silent SNP A A G TCGA-SX-A7SN-01A-11D-A34Z-10 TCGA-SX-A7SN-10A-01D-A34Z-10 g.chr5:114860103A>G c.1756T>C c.(1756-1758)Ttg>Ctg p.L586L KIPAN 5 114860153 114860153 + Missense_Mutation SNP T T C TCGA-CZ-5470-01A-01D-1501-10 TCGA-CZ-5470-11A-01D-1501-10 g.chr5:114860153T>C c.1706A>G c.(1705-1707)gAt>gGt p.D569G KIPAN 5 114860326 114860326 + Silent SNP A A G TCGA-2Z-A9JS-01A-21D-A42J-10 TCGA-2Z-A9JS-10A-01D-A42M-10 g.chr5:114860326A>G c.1533T>C c.(1531-1533)acT>acC p.T511T KIPAN 5 114860558 114860558 + Missense_Mutation SNP T T C TCGA-BP-4774-01A-01D-1366-10 TCGA-BP-4774-11A-01D-1367-10 g.chr5:114860558T>C c.1301A>G c.(1300-1302)gAc>gGc p.D434G KIPAN 5 114860849 114860849 + Missense_Mutation SNP G G C TCGA-SX-A7SM-01A-11D-A34Z-10 TCGA-SX-A7SM-10A-01D-A34Z-10 g.chr5:114860849G>C c.1010C>G c.(1009-1011)aCc>aGc p.T337S KIPAN 5 114878826 114878826 + Missense_Mutation SNP G G A TCGA-BP-5185-01A-01D-1429-08 TCGA-BP-5185-11A-01D-1429-08 g.chr5:114878826G>A c.365C>T c.(364-366)gCt>gTt p.A122V KIRC 5 114860153 114860153 + Missense_Mutation SNP T T C TCGA-CZ-5470-01A-01D-1501-10 TCGA-CZ-5470-11A-01D-1501-10 g.chr5:114860153T>C c.1706A>G c.(1705-1707)gAt>gGt p.D569G KIRC 5 114860558 114860558 + Missense_Mutation SNP T T C TCGA-BP-4774-01A-01D-1366-10 TCGA-BP-4774-11A-01D-1367-10 g.chr5:114860558T>C c.1301A>G c.(1300-1302)gAc>gGc p.D434G KIRC 5 114878826 114878826 + Missense_Mutation SNP G G A TCGA-BP-5185-01A-01D-1429-08 TCGA-BP-5185-11A-01D-1429-08 g.chr5:114878826G>A c.365C>T c.(364-366)gCt>gTt p.A122V KIRP 5 114860103 114860103 + Silent SNP A A G TCGA-SX-A7SN-01A-11D-A34Z-10 TCGA-SX-A7SN-10A-01D-A34Z-10 g.chr5:114860103A>G c.1756T>C c.(1756-1758)Ttg>Ctg p.L586L KIRP 5 114860326 114860326 + Silent SNP A A G TCGA-2Z-A9JS-01A-21D-A42J-10 TCGA-2Z-A9JS-10A-01D-A42M-10 g.chr5:114860326A>G c.1533T>C c.(1531-1533)acT>acC p.T511T KIRP 5 114860849 114860849 + Missense_Mutation SNP G G C TCGA-SX-A7SM-01A-11D-A34Z-10 TCGA-SX-A7SM-10A-01D-A34Z-10 g.chr5:114860849G>C c.1010C>G c.(1009-1011)aCc>aGc p.T337S LGG 5 114860125 114860125 + Missense_Mutation SNP G G C TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 g.chr5:114860125G>C c.1734C>G c.(1732-1734)atC>atG p.I578M LGG 5 114860793 114860793 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:114860793G>A c.1066C>T c.(1066-1068)Cga>Tga p.R356* LIHC 5 114861063 114861063 + Missense_Mutation SNP A A C TCGA-DD-A1EA-01A-11D-A12Z-10 TCGA-DD-A1EA-10A-01D-A12Z-10 g.chr5:114861063A>C c.796T>G c.(796-798)Ttg>Gtg p.L266V LIHC 5 114861063 114861063 + Missense_Mutation SNP A A C TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr5:114861063A>C c.796T>G c.(796-798)Ttg>Gtg p.L266V LUAD 5 114860108 114860108 + Missense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 g.chr5:114860108G>A c.1751C>T c.(1750-1752)aCc>aTc p.T584I LUAD 5 114860290 114860290 + Silent SNP G G A TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr5:114860290G>A c.1569C>T c.(1567-1569)gtC>gtT p.V523V LUAD 5 114879140 114879140 + Silent SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr5:114879140C>A c.51G>T c.(49-51)cgG>cgT p.R17R LUAD 5 114879154 114879154 + Missense_Mutation SNP C C G TCGA-95-A4VN-01A-11D-A25L-08 TCGA-95-A4VN-10A-01D-A25L-08 g.chr5:114879154C>G c.37G>C c.(37-39)Gat>Cat p.D13H LUSC 5 114879045 114879045 + Missense_Mutation SNP G G C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 g.chr5:114879045G>C c.146C>G c.(145-147)gCc>gGc p.A49G OV 5 114860860 114860860 + Silent SNP A A T TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 g.chr5:114860860A>T c.999T>A c.(997-999)tcT>tcA p.S333S OV 5 114878877 114878877 + Missense_Mutation SNP T T C TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 g.chr5:114878877T>C c.314A>G c.(313-315)cAt>cGt p.H105R PRAD 5 114861010 114861010 + Silent SNP A A G TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr5:114861010A>G c.849T>C c.(847-849)atT>atC p.I283I PRAD 5 114879005 114879005 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr5:114879005C>T c.186G>A c.(184-186)gaG>gaA p.E62E READ 5 114860474 114860474 + Missense_Mutation SNP T T C TCGA-DC-6157-01A-11D-1657-10 TCGA-DC-6157-10A-01D-1657-10 g.chr5:114860474T>C c.1385A>G c.(1384-1386)gAc>gGc p.D462G READ 5 114860764 114860764 + Silent SNP C C T TCGA-AG-3898-01A-01W-1073-09 TCGA-AG-3898-10A-01W-1073-09 g.chr5:114860764C>T c.1095G>A c.(1093-1095)ttG>ttA p.L365L SARC 5 114860070 114860070 + Missense_Mutation SNP G G A TCGA-DX-A23T-01A-11D-A26G-09 TCGA-DX-A23T-10A-01D-A26G-09 g.chr5:114860070G>A c.1789C>T c.(1789-1791)Cat>Tat p.H597Y SARC 5 114860080 114860080 + Silent SNP G G A TCGA-DX-A23T-01A-11D-A26G-09 TCGA-DX-A23T-10A-01D-A26G-09 g.chr5:114860080G>A c.1779C>T c.(1777-1779)gtC>gtT p.V593V SARC 5 114860112 114860112 + Missense_Mutation SNP G G A TCGA-DX-A23T-01A-11D-A26G-09 TCGA-DX-A23T-10A-01D-A26G-09 g.chr5:114860112G>A c.1747C>T c.(1747-1749)Cat>Tat p.H583Y SKCM 5 114860482 114860482 + Silent SNP T T C TCGA-DA-A3F5-06A-11D-A20D-08 TCGA-DA-A3F5-10A-01D-A20D-08 g.chr5:114860482T>C c.1377A>G c.(1375-1377)ctA>ctG p.L459L SKCM 5 114860483 114860483 + Missense_Mutation SNP A A T TCGA-DA-A3F5-06A-11D-A20D-08 TCGA-DA-A3F5-10A-01D-A20D-08 g.chr5:114860483A>T c.1376T>A c.(1375-1377)cTa>cAa p.L459Q SKCM 5 114879096 114879096 + Missense_Mutation SNP G G A TCGA-DA-A1IA-06A-11D-A196-08 TCGA-DA-A1IA-10A-01D-A198-08 g.chr5:114879096G>A c.95C>T c.(94-96)tCc>tTc p.S32F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 5 114878661 114878661 single base substitution C G missense_variant R177T 530G>C BLCA-US 5 114879143 114879143 single base substitution G A synonymous_variant L16L 48C>T BRCA-EU 5 114853248 114853251 deletion of <=200bp AAAC - downstream_gene_variant BRCA-EU 5 114853536 114853536 single base substitution G A downstream_gene_variant BRCA-EU 5 114855273 114855273 single base substitution G T downstream_gene_variant BRCA-EU 5 114855970 114855970 single base substitution C T downstream_gene_variant BRCA-EU 5 114856219 114856219 single base substitution A G downstream_gene_variant BRCA-EU 5 114857570 114857570 single base substitution T C 3_prime_UTR_variant BRCA-EU 5 114859935 114859935 single base substitution C G 3_prime_UTR_variant BRCA-EU 5 114860816 114860816 single base substitution T C missense_variant Y348C 1043A>G BRCA-EU 5 114861162 114861162 deletion of <=200bp G - frameshift_variant L233 BRCA-EU 5 114861352 114861352 single base substitution G T intron_variant BRCA-EU 5 114861813 114861813 single base substitution C G intron_variant BRCA-EU 5 114863580 114863580 single base substitution C T intron_variant BRCA-EU 5 114864048 114864048 single base substitution C G intron_variant BRCA-EU 5 114865261 114865261 single base substitution G A intron_variant BRCA-EU 5 114868235 114868235 deletion of <=200bp G - intron_variant BRCA-EU 5 114868238 114868239 deletion of <=200bp GA - intron_variant BRCA-EU 5 114868670 114868670 single base substitution C T intron_variant BRCA-EU 5 114869173 114869173 single base substitution T A intron_variant BRCA-EU 5 114869524 114869524 single base substitution T C intron_variant BRCA-EU 5 114869683 114869683 single base substitution A T intron_variant BRCA-EU 5 114871261 114871261 single base substitution C G intron_variant BRCA-EU 5 114871430 114871430 insertion of <=200bp - CC intron_variant BRCA-EU 5 114873176 114873176 single base substitution G T intron_variant BRCA-EU 5 114873533 114873533 single base substitution A C intron_variant BRCA-EU 5 114873886 114873886 single base substitution A G intron_variant BRCA-EU 5 114875684 114875684 single base substitution C G intron_variant BRCA-EU 5 114876087 114876087 single base substitution A G intron_variant BRCA-EU 5 114877901 114877913 deletion of <=200bp ACAAAAATTATAC - intron_variant BRCA-EU 5 114880984 114880984 single base substitution G C upstream_gene_variant BRCA-EU 5 114881326 114881326 single base substitution G T upstream_gene_variant BRCA-EU 5 114881692 114881692 single base substitution G T upstream_gene_variant BRCA-EU 5 114882260 114882260 single base substitution C A upstream_gene_variant BRCA-EU 5 114882717 114882717 single base substitution C G upstream_gene_variant BRCA-EU 5 114882775 114882775 single base substitution C T upstream_gene_variant BRCA-EU 5 114883185 114883185 single base substitution A T upstream_gene_variant BRCA-EU 5 114884280 114884280 single base substitution C T upstream_gene_variant BRCA-FR 5 114852904 114852904 single base substitution T C downstream_gene_variant BRCA-FR 5 114855273 114855273 single base substitution G T downstream_gene_variant BRCA-FR 5 114857570 114857570 single base substitution T C 3_prime_UTR_variant BRCA-FR 5 114860816 114860816 single base substitution T C missense_variant Y348C 1043A>G BRCA-FR 5 114865261 114865261 single base substitution G A intron_variant BRCA-FR 5 114876087 114876087 single base substitution A G intron_variant BRCA-FR 5 114880984 114880984 single base substitution G C upstream_gene_variant BRCA-FR 5 114881692 114881692 single base substitution G T upstream_gene_variant BRCA-US 5 114860367 114860367 single base substitution C A missense_variant G498W 1492G>T BRCA-US 5 114878898 114878898 single base substitution A C missense_variant V98G 293T>G CLLE-ES 5 114851689 114851692 deletion of <=200bp AAAG - downstream_gene_variant CLLE-ES 5 114862522 114862522 single base substitution A C intron_variant CLLE-ES 5 114865947 114865947 single base substitution T C intron_variant CLLE-ES 5 114879327 114879327 single base substitution G T 5_prime_UTR_variant CLLE-ES 5 114883598 114883598 deletion of <=200bp T - upstream_gene_variant COAD-US 5 114860161 114860161 single base substitution G A synonymous_variant D566D 1698C>T COAD-US 5 114860605 114860605 single base substitution G A synonymous_variant S418S 1254C>T COCA-CN 5 114860397 114860397 single base substitution G A synonymous_variant L488L 1462C>T COCA-CN 5 114860705 114860705 single base substitution G T missense_variant S385Y 1154C>A COCA-CN 5 114861129 114861129 single base substitution G A missense_variant R244C 730C>T COCA-CN 5 114862585 114862585 single base substitution T C intron_variant COCA-CN 5 114876475 114876475 single base substitution C A intron_variant COCA-CN 5 114878962 114878962 single base substitution C A missense_variant D77Y 229G>T COCA-CN 5 114879158 114879158 single base substitution A T synonymous_variant A11A 33T>A COCA-CN 5 114882443 114882443 single base substitution T C upstream_gene_variant EOPC-DE 5 114852224 114852224 single base substitution G A downstream_gene_variant EOPC-DE 5 114872351 114872351 single base substitution C T intron_variant ESAD-UK 5 114851678 114851678 single base substitution C T downstream_gene_variant ESAD-UK 5 114853999 114853999 single base substitution C T downstream_gene_variant ESAD-UK 5 114854021 114854021 single base substitution T G downstream_gene_variant ESAD-UK 5 114855117 114855117 insertion of <=200bp - T downstream_gene_variant ESAD-UK 5 114855166 114855166 single base substitution G C downstream_gene_variant ESAD-UK 5 114855783 114855783 single base substitution A C downstream_gene_variant ESAD-UK 5 114856219 114856219 deletion of <=200bp A - downstream_gene_variant ESAD-UK 5 114856387 114856387 single base substitution C T downstream_gene_variant ESAD-UK 5 114858008 114858008 single base substitution T C 3_prime_UTR_variant ESAD-UK 5 114859484 114859484 single base substitution T C 3_prime_UTR_variant ESAD-UK 5 114859953 114859953 insertion of <=200bp - A 3_prime_UTR_variant ESAD-UK 5 114863132 114863133 deletion of <=200bp AT - intron_variant ESAD-UK 5 114865900 114865900 insertion of <=200bp - A intron_variant ESAD-UK 5 114868238 114868239 deletion of <=200bp GA - intron_variant ESAD-UK 5 114868702 114868702 single base substitution G A intron_variant ESAD-UK 5 114870553 114870553 single base substitution G A intron_variant ESAD-UK 5 114871714 114871714 single base substitution C T intron_variant ESAD-UK 5 114872398 114872398 insertion of <=200bp - A intron_variant ESAD-UK 5 114874603 114874603 single base substitution C T intron_variant ESAD-UK 5 114875823 114875823 single base substitution C A intron_variant ESAD-UK 5 114875978 114875978 single base substitution G A intron_variant ESAD-UK 5 114878271 114878271 single base substitution A C intron_variant ESAD-UK 5 114879270 114879270 single base substitution T A 5_prime_UTR_variant ESAD-UK 5 114881438 114881438 single base substitution G A upstream_gene_variant ESAD-UK 5 114882447 114882447 single base substitution C T upstream_gene_variant ESCA-CN 5 114860928 114860928 single base substitution G A missense_variant L311F 931C>T KIRC-US 5 114860153 114860153 single base substitution T C missense_variant D569G 1706A>G KIRC-US 5 114860558 114860558 single base substitution T C missense_variant D434G 1301A>G KIRC-US 5 114878826 114878826 single base substitution G A missense_variant A122V 365C>T LAML-KR 5 114882434 114882434 single base substitution A C upstream_gene_variant LGG-US 5 114860125 114860125 single base substitution G C missense_variant I578M 1734C>G LICA-FR 5 114860919 114860919 single base substitution C A missense_variant D314Y 940G>T LIHC-US 5 114861063 114861063 single base substitution A C missense_variant L266V 796T>G LINC-JP 5 114853720 114853720 single base substitution T G downstream_gene_variant LINC-JP 5 114854802 114854802 single base substitution C T downstream_gene_variant LINC-JP 5 114859288 114859288 insertion of <=200bp - A 3_prime_UTR_variant LINC-JP 5 114861081 114861081 deletion of <=200bp T - frameshift_variant R260 LINC-JP 5 114862311 114862311 single base substitution G C intron_variant LINC-JP 5 114867843 114867843 single base substitution T C intron_variant LINC-JP 5 114869642 114869642 single base substitution A T intron_variant LINC-JP 5 114873317 114873317 single base substitution A G intron_variant LINC-JP 5 114878005 114878005 single base substitution T A intron_variant LINC-JP 5 114878012 114878012 single base substitution T A intron_variant LINC-JP 5 114878939 114878939 single base substitution A C synonymous_variant A84A 252T>G LINC-JP 5 114879516 114879516 single base substitution C A intron_variant LINC-JP 5 114884948 114884948 single base substitution C A upstream_gene_variant LIRI-JP 5 114852474 114852474 single base substitution T A downstream_gene_variant LIRI-JP 5 114853239 114853239 single base substitution T A downstream_gene_variant LIRI-JP 5 114854936 114854936 single base substitution A G downstream_gene_variant LIRI-JP 5 114855093 114855093 single base substitution T C downstream_gene_variant LIRI-JP 5 114855551 114855551 single base substitution C A downstream_gene_variant LIRI-JP 5 114856137 114856137 insertion of <=200bp - A downstream_gene_variant LIRI-JP 5 114857458 114857459 deletion of <=200bp TA - 3_prime_UTR_variant LIRI-JP 5 114859970 114859970 single base substitution T C 3_prime_UTR_variant LIRI-JP 5 114860890 114860890 single base substitution T C synonymous_variant L323L 969A>G LIRI-JP 5 114863259 114863259 single base substitution T C intron_variant LIRI-JP 5 114863675 114863675 single base substitution T C intron_variant LIRI-JP 5 114864061 114864061 single base substitution C T intron_variant LIRI-JP 5 114864247 114864247 single base substitution G A intron_variant LIRI-JP 5 114866082 114866082 single base substitution T C intron_variant LIRI-JP 5 114870178 114870178 single base substitution C T intron_variant LIRI-JP 5 114871337 114871337 single base substitution T C intron_variant LIRI-JP 5 114872430 114872430 single base substitution T C intron_variant LIRI-JP 5 114872501 114872501 single base substitution T C intron_variant LIRI-JP 5 114876895 114876895 single base substitution A G intron_variant LIRI-JP 5 114881617 114881617 single base substitution T G upstream_gene_variant LIRI-JP 5 114884447 114884447 single base substitution T C upstream_gene_variant LIRI-JP 5 114885091 114885091 deletion of <=200bp A - upstream_gene_variant LUSC-KR 5 114856178 114856178 single base substitution C G downstream_gene_variant LUSC-KR 5 114860397 114860397 single base substitution G A synonymous_variant L488L 1462C>T LUSC-KR 5 114861224 114861224 single base substitution C A missense_variant G212V 635G>T LUSC-KR 5 114863803 114863803 single base substitution C G intron_variant LUSC-KR 5 114864975 114864975 single base substitution G C intron_variant LUSC-KR 5 114879540 114879540 single base substitution G C intron_variant LUSC-KR 5 114880159 114880159 single base substitution C A intron_variant LUSC-KR 5 114881275 114881275 single base substitution G T upstream_gene_variant LUSC-KR 5 114885328 114885328 single base substitution A G upstream_gene_variant LUSC-US 5 114879045 114879045 single base substitution G C missense_variant A49G 146C>G MALY-DE 5 114858732 114858732 single base substitution G A 3_prime_UTR_variant MALY-DE 5 114863128 114863128 deletion of <=200bp T - intron_variant MALY-DE 5 114865961 114865961 single base substitution T A intron_variant MALY-DE 5 114878808 114878808 insertion of <=200bp - AAT disruptive_inframe_insertion H128QF MALY-DE 5 114879187 114879187 single base substitution C T missense_variant D2N 4G>A MALY-DE 5 114882443 114882443 single base substitution T C upstream_gene_variant MALY-DE 5 114882467 114882467 single base substitution A C upstream_gene_variant MELA-AU 5 114853269 114853269 single base substitution G A downstream_gene_variant MELA-AU 5 114853281 114853281 single base substitution G A downstream_gene_variant MELA-AU 5 114853919 114853919 single base substitution G A downstream_gene_variant MELA-AU 5 114854429 114854429 single base substitution A G downstream_gene_variant MELA-AU 5 114855187 114855187 single base substitution A G downstream_gene_variant MELA-AU 5 114855369 114855369 single base substitution A C downstream_gene_variant MELA-AU 5 114855949 114855949 single base substitution G A downstream_gene_variant MELA-AU 5 114855955 114855955 single base substitution T C downstream_gene_variant MELA-AU 5 114856090 114856090 single base substitution G A downstream_gene_variant MELA-AU 5 114856650 114856650 single base substitution G A 3_prime_UTR_variant MELA-AU 5 114858036 114858036 single base substitution C T 3_prime_UTR_variant MELA-AU 5 114858038 114858038 single base substitution A T 3_prime_UTR_variant MELA-AU 5 114858075 114858075 single base substitution A G 3_prime_UTR_variant MELA-AU 5 114858189 114858189 single base substitution A G 3_prime_UTR_variant MELA-AU 5 114858731 114858731 single base substitution G A 3_prime_UTR_variant MELA-AU 5 114859024 114859024 single base substitution T C 3_prime_UTR_variant MELA-AU 5 114859315 114859317 deletion of <=200bp ATA - 3_prime_UTR_variant MELA-AU 5 114859555 114859555 single base substitution G A 3_prime_UTR_variant MELA-AU 5 114861355 114861355 single base substitution G A intron_variant MELA-AU 5 114861423 114861423 single base substitution C T intron_variant MELA-AU 5 114861451 114861451 single base substitution G A intron_variant MELA-AU 5 114861611 114861611 single base substitution G T intron_variant MELA-AU 5 114863673 114863673 single base substitution G A intron_variant MELA-AU 5 114864982 114864982 single base substitution A T intron_variant MELA-AU 5 114865365 114865365 single base substitution G A intron_variant MELA-AU 5 114865935 114865935 single base substitution A G intron_variant MELA-AU 5 114866068 114866068 single base substitution A G intron_variant MELA-AU 5 114866312 114866312 single base substitution T A intron_variant MELA-AU 5 114866712 114866712 single base substitution A T intron_variant MELA-AU 5 114868235 114868235 deletion of <=200bp G - intron_variant MELA-AU 5 114869206 114869206 single base substitution G A intron_variant MELA-AU 5 114870723 114870723 single base substitution A T intron_variant MELA-AU 5 114872296 114872297 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 114873186 114873186 single base substitution G A intron_variant MELA-AU 5 114873355 114873355 single base substitution T A intron_variant MELA-AU 5 114873402 114873402 single base substitution A G intron_variant MELA-AU 5 114873794 114873794 single base substitution G A intron_variant MELA-AU 5 114875125 114875125 single base substitution T C intron_variant MELA-AU 5 114875816 114875816 single base substitution G A intron_variant MELA-AU 5 114877032 114877032 single base substitution G A intron_variant MELA-AU 5 114878212 114878212 single base substitution C G intron_variant MELA-AU 5 114878935 114878935 single base substitution G A missense_variant P86S 256C>T MELA-AU 5 114879205 114879205 single base substitution G A 5_prime_UTR_variant MELA-AU 5 114879252 114879252 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 5 114880199 114880199 single base substitution G A intron_variant MELA-AU 5 114880285 114880285 single base substitution G A 5_prime_UTR_variant MELA-AU 5 114880619 114880619 single base substitution G A upstream_gene_variant MELA-AU 5 114880989 114880989 single base substitution G A upstream_gene_variant MELA-AU 5 114881102 114881102 single base substitution C T upstream_gene_variant MELA-AU 5 114881312 114881312 single base substitution G T upstream_gene_variant MELA-AU 5 114881440 114881440 single base substitution G A upstream_gene_variant MELA-AU 5 114881649 114881649 single base substitution G A upstream_gene_variant MELA-AU 5 114881783 114881783 single base substitution C T upstream_gene_variant MELA-AU 5 114881948 114881948 single base substitution C T upstream_gene_variant MELA-AU 5 114882277 114882277 single base substitution G A upstream_gene_variant MELA-AU 5 114882277 114882278 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 114882349 114882349 single base substitution G A upstream_gene_variant MELA-AU 5 114882554 114882554 single base substitution G A upstream_gene_variant MELA-AU 5 114882590 114882590 single base substitution G A upstream_gene_variant MELA-AU 5 114882740 114882740 single base substitution C T upstream_gene_variant MELA-AU 5 114882954 114882954 single base substitution C T upstream_gene_variant MELA-AU 5 114883353 114883353 single base substitution C T upstream_gene_variant MELA-AU 5 114883458 114883458 single base substitution A T upstream_gene_variant MELA-AU 5 114883730 114883730 single base substitution G A upstream_gene_variant MELA-AU 5 114883758 114883758 single base substitution C T upstream_gene_variant MELA-AU 5 114883780 114883780 single base substitution G C upstream_gene_variant MELA-AU 5 114884138 114884138 single base substitution C T upstream_gene_variant MELA-AU 5 114884215 114884215 single base substitution G A upstream_gene_variant MELA-AU 5 114884597 114884597 single base substitution G A upstream_gene_variant MELA-AU 5 114884720 114884720 single base substitution G A upstream_gene_variant MELA-AU 5 114884872 114884872 single base substitution C A upstream_gene_variant MELA-AU 5 114884964 114884964 single base substitution G A upstream_gene_variant MELA-AU 5 114884996 114884996 single base substitution G A upstream_gene_variant MELA-AU 5 114885046 114885046 single base substitution G A upstream_gene_variant ORCA-IN 5 114878971 114878971 single base substitution C T missense_variant V74I 220G>A OV-AU 5 114857702 114857702 single base substitution T C 3_prime_UTR_variant OV-AU 5 114858242 114858242 single base substitution C G 3_prime_UTR_variant OV-AU 5 114864272 114864272 single base substitution A T intron_variant OV-AU 5 114874391 114874391 single base substitution C G intron_variant OV-AU 5 114882517 114882517 single base substitution G A upstream_gene_variant OV-AU 5 114883670 114883670 single base substitution A G upstream_gene_variant OV-AU 5 114883992 114883992 single base substitution G T upstream_gene_variant OV-US 5 114878877 114878877 single base substitution T C missense_variant H105R 314A>G PACA-AU 5 114853539 114853539 single base substitution G A downstream_gene_variant PACA-AU 5 114863876 114863876 single base substitution T C intron_variant PACA-AU 5 114864097 114864097 single base substitution G T intron_variant PACA-AU 5 114870553 114870553 single base substitution G A intron_variant PACA-AU 5 114873163 114873163 single base substitution C G intron_variant PACA-AU 5 114874351 114874351 single base substitution G A intron_variant PACA-AU 5 114885259 114885259 single base substitution T C upstream_gene_variant PACA-CA 5 114855901 114855901 insertion of <=200bp - A downstream_gene_variant PACA-CA 5 114858701 114858701 single base substitution A C 3_prime_UTR_variant PACA-CA 5 114859613 114859613 single base substitution T C 3_prime_UTR_variant PACA-CA 5 114861348 114861348 single base substitution C A intron_variant PACA-CA 5 114868036 114868036 single base substitution T G intron_variant PACA-CA 5 114868557 114868557 deletion of <=200bp A - intron_variant PACA-CA 5 114871162 114871162 single base substitution C G intron_variant PACA-CA 5 114872382 114872382 insertion of <=200bp - A intron_variant PACA-CA 5 114873890 114873890 single base substitution T C intron_variant PACA-CA 5 114875217 114875217 single base substitution G T intron_variant PACA-CA 5 114877850 114877850 single base substitution G A intron_variant PACA-CA 5 114878479 114878479 single base substitution C A intron_variant PACA-CA 5 114878678 114878678 single base substitution C T synonymous_variant K171K 513G>A PACA-CA 5 114883101 114883101 single base substitution C T upstream_gene_variant PAEN-IT 5 114872228 114872228 single base substitution C T intron_variant PBCA-DE 5 114852209 114852209 single base substitution T A downstream_gene_variant PBCA-DE 5 114854047 114854050 deletion of <=200bp AAAA - downstream_gene_variant PBCA-DE 5 114858049 114858049 insertion of <=200bp - A 3_prime_UTR_variant PBCA-DE 5 114858640 114858641 deletion of <=200bp GA - 3_prime_UTR_variant PRAD-CA 5 114855023 114855023 single base substitution C T downstream_gene_variant PRAD-CA 5 114873022 114873022 single base substitution C T intron_variant PRAD-CA 5 114877282 114877282 single base substitution A C intron_variant PRAD-CA 5 114880063 114880063 single base substitution C T intron_variant PRAD-CA 5 114883634 114883634 single base substitution G A upstream_gene_variant RECA-EU 5 114863134 114863134 single base substitution A T intron_variant RECA-EU 5 114865305 114865305 single base substitution A C intron_variant RECA-EU 5 114867256 114867256 single base substitution T C intron_variant RECA-EU 5 114867339 114867339 single base substitution T A intron_variant RECA-EU 5 114869121 114869121 single base substitution A T intron_variant RECA-EU 5 114870088 114870088 single base substitution C A intron_variant RECA-EU 5 114872517 114872517 single base substitution T A intron_variant RECA-EU 5 114874259 114874259 single base substitution G A intron_variant SKCA-BR 5 114852354 114852359 deletion of <=200bp AAAAAC - downstream_gene_variant SKCA-BR 5 114852359 114852359 single base substitution C A downstream_gene_variant SKCA-BR 5 114853485 114853485 single base substitution C A downstream_gene_variant SKCA-BR 5 114858625 114858629 deletion of <=200bp TGTGA - 3_prime_UTR_variant SKCA-BR 5 114858794 114858794 single base substitution A G 3_prime_UTR_variant SKCA-BR 5 114870240 114870240 single base substitution T G intron_variant SKCA-BR 5 114870992 114870992 insertion of <=200bp - AC intron_variant SKCA-BR 5 114873547 114873547 single base substitution A T intron_variant SKCA-BR 5 114876113 114876113 single base substitution A G intron_variant SKCA-BR 5 114879961 114879961 single base substitution A C intron_variant SKCA-BR 5 114880621 114880621 single base substitution A G upstream_gene_variant SKCA-BR 5 114882600 114882601 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 5 114883634 114883634 single base substitution G A upstream_gene_variant SKCA-BR 5 114884331 114884331 single base substitution C T upstream_gene_variant SKCA-BR 5 114885039 114885039 single base substitution G A upstream_gene_variant SKCM-US 5 114860413 114860413 deletion of <=200bp G - frameshift_variant N482 SKCM-US 5 114879096 114879096 single base substitution G A missense_variant S32F 95C>T STAD-US 5 114860032 114860032 single base substitution T C synonymous_variant L609L 1827A>G STAD-US 5 114861055 114861055 single base substitution G T stop_gained Y268* 804C>A STAD-US 5 114878754 114878754 single base substitution T C missense_variant N146S 437A>G STAD-US 5 114878823 114878823 single base substitution G A missense_variant A123V 368C>T STAD-US 5 114878880 114878880 single base substitution T C missense_variant N104S 311A>G THCA-SA 5 114860161 114860161 single base substitution G A synonymous_variant D566D 1698C>T UCEC-US 5 114860292 114860292 single base substitution C T missense_variant V523I 1567G>A UCEC-US 5 114860293 114860293 single base substitution G A synonymous_variant N522N 1566C>T UCEC-US 5 114860309 114860309 single base substitution C T missense_variant C517Y 1550G>A UCEC-US 5 114860661 114860661 single base substitution C T missense_variant G400S 1198G>A UCEC-US 5 114860915 114860915 single base substitution G T missense_variant P315H 944C>A UCEC-US 5 114860958 114860958 single base substitution C A stop_gained E301* 901G>T UCEC-US 5 114861119 114861119 single base substitution G T missense_variant A247D 740C>A UCEC-US 5 114861238 114861238 single base substitution C A missense_variant K207N 621G>T UCEC-US 5 114878712 114878712 single base substitution C A missense_variant G160V 479G>T UCEC-US 5 114879071 114879071 single base substitution A G synonymous_variant N40N 120T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-24-1427-01 COSM74647 c.314A>G p.H105R Substitution - Missense 5:115543180-115543180 - TCGA-CG-4442-01 COSM4127244 c.804C>A p.Y268* Substitution - Nonsense 5:115525358-115525358 - TCGA-B5-A11O-01 COSM1059842 c.1198G>A p.G400S Substitution - Missense 5:115524964-115524964 - TCGA-CZ-5470-01 COSM481768 c.1706A>G p.D569G Substitution - Missense 5:115524456-115524456 - 587376 COSM1206973 c.259T>G p.L87V Substitution - Missense 5:115543235-115543235 - HCC1954 COSM250161 c.1401G>A p.Q467Q Substitution - coding silent 5:115524761-115524761 - LS411 COSM2991854 c.1626C>T p.D542D Substitution - coding silent 5:115524536-115524536 - BN41T COSM1619338 c.252T>G p.A84A Substitution - coding silent 5:115543242-115543242 - PD13164a COSM5770329 c.1043A>G p.Y348C Substitution - Missense 5:115525119-115525119 - RK268_C01 COSM4945455 c.969A>G p.L323L Substitution - coding silent 5:115525193-115525193 - DN12105 COSM5770329 c.1043A>G p.Y348C Substitution - Missense 5:115525119-115525119 - TCGA-BP-4774-01 COSM1432595 c.1301A>G p.D434G Substitution - Missense 5:115524861-115524861 - HCC1954 COSM32931 c.1300G>A p.D434N Substitution - Missense 5:115524862-115524862 - TCGA-AP-A0LM-01 COSM1059847 c.479G>T p.G160V Substitution - Missense 5:115543015-115543015 - IGROV-1 COSM1671815 c.1036G>A p.A346T Substitution - Missense 5:115525126-115525126 - TCGA-18-3410-01 COSM735009 c.146C>G p.A49G Substitution - Missense 5:115543348-115543348 - TCGA-HU-8602-01 COSM4127245 c.437A>G p.N146S Substitution - Missense 5:115543057-115543057 - YUKARN COSM1685984 c.1376T>A p.L459Q Substitution - Missense 5:115524786-115524786 - 2328682 COSM4972236 c.1522C>G p.L508V Substitution - Missense 5:115524640-115524640 - TCGA-AP-A0LM-01 COSM1059840 c.1566C>T p.N522N Substitution - coding silent 5:115524596-115524596 - 587376 COSM1206972 c.1661T>C p.F554S Substitution - Missense 5:115524501-115524501 - T3064 COSM4684306 c.982C>T p.R328C Substitution - Missense 5:115525180-115525180 - CHC320T COSM250945 c.940G>T p.D314Y Substitution - Missense 5:115525222-115525222 - PTC-28C COSM3760889 c.1698C>T p.D566D Substitution - coding silent 5:115524464-115524464 - TCGA-DK-A1AC-01 COSM1310455 c.48C>T p.L16L Substitution - coding silent 5:115543446-115543446 - HCC1954 COSM32932 c.1384G>A p.D462N Substitution - Missense 5:115524778-115524778 - TCGA-D1-A16X-01 COSM1059839 c.1567G>A p.V523I Substitution - Missense 5:115524595-115524595 - LUAD-YINHD COSM351100 c.928G>T p.G310C Substitution - Missense 5:115525234-115525234 - T3240 COSM4684305 c.1516C>G p.P506A Substitution - Missense 5:115524646-115524646 - TCGA-BH-A18G-01 COSM3826582 c.1492G>T p.G498W Substitution - Missense 5:115524670-115524670 - OSCC-GB_00520111 COSM3714969 c.220G>A p.V74I Substitution - Missense 5:115543274-115543274 - TCGA-A8-A0A6-01 COSM3826583 c.293T>G p.V98G Substitution - Missense 5:115543201-115543201 - TCGA-BP-5185-01 COSM481769 c.365C>T p.A122V Substitution - Missense 5:115543129-115543129 - TCGA-AP-A051-01 COSM1059845 c.740C>A p.A247D Substitution - Missense 5:115525422-115525422 - sysucc-1397T COSM5474751 c.730C>T p.R244C Substitution - Missense 5:115525432-115525432 - YUKRIN COSM1696060 c.95C>T p.S32F Substitution - Missense 5:115543399-115543399 - ATL044 COSM5709421 c.1399delC p.Q467fs*31 Deletion - Frameshift 5:115524763-115524763 - TCGA-BS-A0UV-01 COSM1059846 c.621G>T p.K207N Substitution - Missense 5:115525541-115525541 - YUOTHO COSM5401958 c.254C>T p.P85L Substitution - Missense 5:115543240-115543240 - TCGA-DA-A1IA-06 COSM1696060 c.95C>T p.S32F Substitution - Missense 5:115543399-115543399 - KM12 COSM2991862 c.1494G>A p.G498G Substitution - coding silent 5:115524668-115524668 - tumor_4163639 COSM1161510 c.4G>A p.D2N Substitution - Missense 5:115543490-115543490 - TCGA-AP-A059-01 COSM1059841 c.1550G>A p.C517Y Substitution - Missense 5:115524612-115524612 - TCGA-AM-5821-01 COSM3760889 c.1698C>T p.D566D Substitution - coding silent 5:115524464-115524464 - BN24T COSM1619337 c.778delA p.R260fs*7 Deletion - Frameshift 5:115525384-115525384 - TCGA-AG-3898-01 COSM288947 c.1095G>A p.L365L Substitution - coding silent 5:115525067-115525067 - S00841 COSM317359 c.368C>A p.A123E Substitution - Missense 5:115543126-115543126 - CRC-33T COSM5479585 c.229G>T p.D77Y Substitution - Missense 5:115543265-115543265 - 16246 COSM5615440 c.1141A>T p.S381C Substitution - Missense 5:115525021-115525021 - TCGA-BS-A0UF-01 COSM1059844 c.901G>T p.E301* Substitution - Nonsense 5:115525261-115525261 - MD-142 COSM302223 c.1577C>T p.S526L Substitution - Missense 5:115524585-115524585 - PD4266a COSM5801768 c.697delC p.L233fs*1 Deletion - Frameshift 5:115525465-115525465 - PCSI_0588_Pa_P_526 COSM5762276 c.513G>A p.K171K Substitution - coding silent 5:115542981-115542981 - Pat_76_A COSM5867067 c.1433G>A p.R478K Substitution - Missense 5:115524729-115524729 - LAU618 COSM232333 c.196G>C p.A66P Substitution - Missense 5:115543298-115543298 - ESCC_63 COSM5633372 c.49C>T p.R17W Substitution - Missense 5:115543445-115543445 - HN_62421 COSM123152 c.1609C>G p.L537V Substitution - Missense 5:115524553-115524553 - 61 COSM5737313 c.1269G>T p.E423D Substitution - Missense 5:115524893-115524893 - TCGA-HU-A4GT-01 COSM4127246 c.368C>T p.A123V Substitution - Missense 5:115543126-115543126 - TCGA-DD-A1EA-01 COSM4920126 c.796T>G p.L266V Substitution - Missense 5:115525366-115525366 - CHC320T COSM250945 c.940G>T p.D314Y Substitution - Missense 5:115525222-115525222 - TCGA-DK-A1AC-01 COSM1310454 c.530G>C p.R177T Substitution - Missense 5:115542964-115542964 - HCT8 COSM4635184 c.498G>T p.Q166H Substitution - Missense 5:115542996-115542996 - YUPAER COSM5401957 c.1366C>T p.P456S Substitution - Missense 5:115524796-115524796 - YURDE COSM1696059 c.1376_1377TA>CT p.L459P Substitution - Missense 5:115524785-115524786 - TCGA-04-1516-01 COSM1328311 c.999T>A p.S333S Substitution - coding silent 5:115525163-115525163 - 2293776 COSM4607875 c.1143C>A p.S381R Substitution - Missense 5:115525019-115525019 - TCGA-D1-A16F-01 COSM1059843 c.944C>A p.P315H Substitution - Missense 5:115525218-115525218 - ESO-1145 COSM1252352 c.778_779insA p.R260fs*20 Insertion - Frameshift 5:115525383-115525384 - J10_T COSM3946757 c.635G>T p.G212V Substitution - Missense 5:115525527-115525527 - ccRCC-102 COSM1660304 c.517G>C p.A173P Substitution - Missense 5:115542977-115542977 - LUAD-B00915 COSM332975 c.578G>C p.G193A Substitution - Missense 5:115525584-115525584 - SNUH_G26_S1 COSM3683662 c.1698C>A p.D566E Substitution - Missense 5:115524464-115524464 - 52T COSM3714969 c.220G>A p.V74I Substitution - Missense 5:115543274-115543274 - TCGA-BR-7722-01 COSM4127247 c.311A>G p.N104S Substitution - Missense 5:115543183-115543183 - ESCC_BICR_016T COSM5439584 c.931C>T p.L311F Substitution - Missense 5:115525231-115525231 - sysucc-1370T COSM5471939 c.33T>A p.A11A Substitution - coding silent 5:115543461-115543461 - TCGA-DB-5274-01 COSM3975125 c.1734C>G p.I578M Substitution - Missense 5:115524428-115524428 - T3262 COSM4684307 c.965C>T p.A322V Substitution - Missense 5:115525197-115525197 - 949_T COSM3946758 c.50G>T p.R17L Substitution - Missense 5:115543444-115543444 - TCGA-DI-A0WH-01 COSM1059848 c.120T>C p.N40N Substitution - coding silent 5:115543374-115543374 - S02273 COSM5682077 c.295G>T p.V99F Substitution - Missense 5:115543199-115543199 - HCC1954 COSM32932 c.1384G>A p.D462N Substitution - Missense 5:115524778-115524778 - TCGA-AZ-4315-01 COSM1432596 c.1254C>T p.S418S Substitution - coding silent 5:115524908-115524908 - HCC1954 COSM32931 c.1300G>A p.D434N Substitution - Missense 5:115524862-115524862 - CSCC-45-T COSM4571198 c.400T>G p.Y134D Substitution - Missense 5:115543094-115543094 - 93VU147T COSM4590957 c.1495C>T p.R499W Substitution - Missense 5:115524667-115524667 - S00841 COSM317359 c.368C>A p.A123E Substitution - Missense 5:115543126-115543126 - pfg057T COSM4747788 c.629delA p.K210fs*6 Deletion - Frameshift 5:115525533-115525533 - ESO-114 COSM1252353 c.1471G>T p.D491Y Substitution - Missense 5:115524691-115524691 - STC263 COSM2991868 c.1104G>A p.Q368Q Substitution - coding silent 5:115525058-115525058 - Pat_76_B COSM5867067 c.1433G>A p.R478K Substitution - Missense 5:115524729-115524729 - 40M COSM5401957 c.1366C>T p.P456S Substitution - Missense 5:115524796-115524796 - TCGA-B7-5816-01 COSM4127243 c.1827A>G p.L609L Substitution - coding silent 5:115524335-115524335 - tumor_4105746 COSM5946374 c.382_383insATT p.H128_L129insY Insertion - In frame 5:115543111-115543112 - S02284 COSM5684191 c.419C>G p.A140G Substitution - Missense 5:115543075-115543075 - 587222 COSM1206971 c.489G>T p.E163D Substitution - Missense 5:115543005-115543005 - MO_1014 COSM5547822 c.325_344del20 p.V109fs*26 Deletion - Frameshift 5:115543150-115543169 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.47367 5q22 608767

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Synonymous p.N40N c.120T>C 5 114879071 UCEC C A Missense p.D491Y c.1471G>T 5 114860388 ESCA C A Synonymous p.R17R c.51G>T 5 114879140 LUAD C T Missense p.D2N c.4G>A 5 114879187 DLBCL C T Missense p.G400S c.1198G>A 5 114860661 UCEC C T Synonymous p.L365L c.1095G>A 5 114860764 COREAD G A Missense p.A122V c.365C>T 5 114878826 RCCC G A Missense p.D434N c.1300G>A 5 114860559 BRCA G A Missense p.D462N c.1384G>A 5 114860475 BRCA G A Missense p.P374L c.1121C>T 5 114860738 CM G A Missense p.S32F c.95C>T 5 114879096 CM G A Synonymous p.V523V c.1569C>T 5 114860290 LUAD G C Missense p.A49G c.146C>G 5 114879045 LUSC G C Missense p.I578M c.1734C>G 5 114860125 LGG G C Missense p.L537V c.1609C>G 5 114860250 HNSC G - Frameshift p.F483Sfs*15 c.1446delC 5 114860413 CM G T Missense p.A123E c.368C>A 5 114878823 SCLC G T Missense p.N482K c.1446C>A 5 114860413 CM G T Missense p.P315H c.944C>A 5 114860915 UCEC TA CT Missense p.L459Q c.1376_1377delinsAG 5 114860482 CM T A Missense p.S381C c.1141A>T 5 114860718 NSCLC T C Missense p.D434G c.1301A>G 5 114860558 RCCC T C Missense p.D569G c.1706A>G 5 114860153 RCCC T C Missense p.H105R c.314A>G 5 114878877 OV T C Synonymous p.L609L c.1827A>G 5 114860032 STAD - T Frameshift p.R260Kfs*20 c.778dupA 5 114861081 ESCA