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 11 10540661 10540663 + In_Frame_Del DEL CTC CTC - TCGA-OR-A5LB-01A-11D-A29I-10 TCGA-OR-A5LB-10A-01D-A29L-10 g.chr11:10540661_10540663delCTC c.460_462delGAG c.(460-462)gagdel p.E154del BLCA 11 10536558 10536558 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 g.chr11:10536558C>T c.598G>A c.(598-600)Gaa>Aaa p.E200K BLCA 11 10546791 10546791 + Missense_Mutation SNP C C A TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr11:10546791C>A c.382G>T c.(382-384)Gat>Tat p.D128Y BLCA 11 10555657 10555657 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 g.chr11:10555657G>A c.49C>T c.(49-51)Cca>Tca p.P17S BLCA 11 10555684 10555684 + Missense_Mutation SNP G G C TCGA-DK-AA6Q-01A-11D-A391-08 TCGA-DK-AA6Q-10A-01D-A394-08 g.chr11:10555684G>C c.22C>G c.(22-24)Cag>Gag p.Q8E BLCA 11 10555684 10555684 + Missense_Mutation SNP G G C TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr11:10555684G>C c.22C>G c.(22-24)Cag>Gag p.Q8E CESC 11 10546848 10546848 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 g.chr11:10546848C>A c.325G>T c.(325-327)Gat>Tat p.D109Y CESC 11 10555624 10555624 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr11:10555624G>A c.82C>T c.(82-84)Cga>Tga p.R28* COAD 11 10540639 10540639 + Missense_Mutation SNP G G A TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr11:10540639G>A c.484C>T c.(484-486)Cgg>Tgg p.R162W COAD 11 10546877 10546877 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr11:10546877T>G c.296A>C c.(295-297)aAt>aCt p.N99T COADREAD 11 10536581 10536581 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:10536581C>T c.575G>A c.(574-576)cGc>cAc p.R192H COADREAD 11 10540639 10540639 + Missense_Mutation SNP G G A TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr11:10540639G>A c.484C>T c.(484-486)Cgg>Tgg p.R162W COADREAD 11 10546877 10546877 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr11:10546877T>G c.296A>C c.(295-297)aAt>aCt p.N99T GBM 11 10536581 10536581 + Missense_Mutation SNP C C T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 g.chr11:10536581C>T c.575G>A c.(574-576)cGc>cAc p.R192H GBMLGG 11 10536581 10536581 + Missense_Mutation SNP C C T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 g.chr11:10536581C>T c.575G>A c.(574-576)cGc>cAc p.R192H HNSC 11 10540606 10540606 + Missense_Mutation SNP A A G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 g.chr11:10540606A>G c.517T>C c.(517-519)Ttt>Ctt p.F173L HNSC 11 10546740 10546740 + Splice_Site SNP T T A TCGA-CV-A45U-01A-12D-A24D-08 TCGA-CV-A45U-10A-01D-A24F-08 g.chr11:10546740T>A c.433A>T c.(433-435)Agg>Tgg p.R145W LUAD 11 10540598 10540598 + Silent SNP C C T TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr11:10540598C>T c.525G>A c.(523-525)caG>caA p.Q175Q LUAD 11 10552261 10552261 + Missense_Mutation SNP G G A TCGA-93-8067-01A-11D-2284-08 TCGA-93-8067-10A-01D-2284-08 g.chr11:10552261G>A c.181C>T c.(181-183)Ctc>Ttc p.L61F LUAD 11 10555597 10555597 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 g.chr11:10555597C>G c.109G>C c.(109-111)Gaa>Caa p.E37Q LUSC 11 10546918 10546918 + Missense_Mutation SNP A A C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 g.chr11:10546918A>C c.255T>G c.(253-255)atT>atG p.I85M READ 11 10536581 10536581 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:10536581C>T c.575G>A c.(574-576)cGc>cAc p.R192H SKCM 11 10546787 10546787 + Missense_Mutation SNP T T C TCGA-ER-A19J-06A-11D-A196-08 TCGA-ER-A19J-10A-01D-A198-08 g.chr11:10546787T>C c.386A>G c.(385-387)gAa>gGa p.E129G SKCM 11 10546848 10546848 + Missense_Mutation SNP C C G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr11:10546848C>G c.325G>C c.(325-327)Gat>Cat p.D109H SKCM 11 10555624 10555624 + Nonsense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr11:10555624G>A c.82C>T c.(82-84)Cga>Tga p.R28* ACC 19 44515611 44515611 + Missense_Mutation SNP A A T TCGA-OR-A5J2-01A-11D-A29I-10 TCGA-OR-A5J2-10A-01D-A29L-10 g.chr19:44515611A>T c.1420A>T c.(1420-1422)Atg>Ttg p.M474L BLCA 19 44512948 44512948 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 g.chr19:44512948G>C c.22G>C c.(22-24)Gtg>Ctg p.V8L BLCA 19 44514437 44514437 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 g.chr19:44514437G>A c.246G>A c.(244-246)gcG>gcA p.A82A BLCA 19 44514476 44514476 + Missense_Mutation SNP C C G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 g.chr19:44514476C>G c.285C>G c.(283-285)atC>atG p.I95M BLCA 19 44514653 44514653 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr19:44514653C>G c.462C>G c.(460-462)atC>atG p.I154M BLCA 19 44514657 44514657 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 g.chr19:44514657G>C c.466G>C c.(466-468)Gat>Cat p.D156H BLCA 19 44514752 44514752 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr19:44514752G>C c.561G>C c.(559-561)caG>caC p.Q187H BLCA 19 44514903 44514903 + Missense_Mutation SNP A A C TCGA-DK-AA74-01A-11D-A391-08 TCGA-DK-AA74-10A-01D-A394-08 g.chr19:44514903A>C c.712A>C c.(712-714)Ata>Cta p.I238L BLCA 19 44515209 44515209 + Missense_Mutation SNP G G C TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr19:44515209G>C c.1018G>C c.(1018-1020)Gaa>Caa p.E340Q BRCA 19 44512960 44512960 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 g.chr19:44512960G>A c.34G>A c.(34-36)Gat>Aat p.D12N BRCA 19 44513052 44513052 + Silent SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr19:44513052G>A c.126G>A c.(124-126)acG>acA p.T42T BRCA 19 44514454 44514454 + Missense_Mutation SNP A A G TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 g.chr19:44514454A>G c.263A>G c.(262-264)gAa>gGa p.E88G BRCA 19 44515324 44515324 + Missense_Mutation SNP G G C TCGA-A7-A5ZV-01A-11D-A28B-09 TCGA-A7-A5ZV-10A-01D-A28E-09 g.chr19:44515324G>C c.1133G>C c.(1132-1134)gGt>gCt p.G378A CESC 19 44514810 44514810 + Nonsense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 g.chr19:44514810C>T c.619C>T c.(619-621)Cag>Tag p.Q207* COAD 19 44513274 44513274 + Nonsense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr19:44513274G>T c.181G>T c.(181-183)Gaa>Taa p.E61* COAD 19 44514854 44514854 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr19:44514854G>T c.663G>T c.(661-663)gaG>gaT p.E221D COAD 19 44515362 44515362 + Missense_Mutation SNP C C A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr19:44515362C>A c.1171C>A c.(1171-1173)Cct>Act p.P391T COAD 19 44515439 44515439 + Silent SNP G G A TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr19:44515439G>A c.1248G>A c.(1246-1248)cgG>cgA p.R416R COAD 19 44515575 44515575 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr19:44515575A>C c.1384A>C c.(1384-1386)Aat>Cat p.N462H COAD 19 44515614 44515614 + Nonstop_Mutation SNP T T C TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr19:44515614T>C c.1423T>C c.(1423-1425)Taa>Caa p.*475Q COADREAD 19 44513274 44513274 + Nonsense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr19:44513274G>T c.181G>T c.(181-183)Gaa>Taa p.E61* COADREAD 19 44514854 44514854 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr19:44514854G>T c.663G>T c.(661-663)gaG>gaT p.E221D COADREAD 19 44514982 44514982 + Missense_Mutation SNP A A G TCGA-AG-3896-01A-01W-1073-09 TCGA-AG-3896-10A-01W-1073-09 g.chr19:44514982A>G c.791A>G c.(790-792)gAt>gGt p.D264G COADREAD 19 44515362 44515362 + Missense_Mutation SNP C C A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr19:44515362C>A c.1171C>A c.(1171-1173)Cct>Act p.P391T COADREAD 19 44515439 44515439 + Silent SNP G G A TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr19:44515439G>A c.1248G>A c.(1246-1248)cgG>cgA p.R416R COADREAD 19 44515575 44515575 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr19:44515575A>C c.1384A>C c.(1384-1386)Aat>Cat p.N462H COADREAD 19 44515614 44515614 + Nonstop_Mutation SNP T T C TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr19:44515614T>C c.1423T>C c.(1423-1425)Taa>Caa p.*475Q DLBC 19 44514422 44514422 + Splice_Site SNP C C T TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr19:44514422C>T c.231C>T c.(229-231)ggC>ggT p.G77G DLBC 19 44514859 44514859 + Missense_Mutation SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr19:44514859C>T c.668C>T c.(667-669)cCa>cTa p.P223L DLBC 19 44515492 44515492 + Missense_Mutation SNP T T A TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr19:44515492T>A c.1301T>A c.(1300-1302)tTc>tAc p.F434Y ESCA 19 44515108 44515108 + Missense_Mutation SNP A A T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 g.chr19:44515108A>T c.917A>T c.(916-918)aAa>aTa p.K306I GBMLGG 19 44515547 44515547 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:44515547C>A c.1356C>A c.(1354-1356)gaC>gaA p.D452E HNSC 19 44513009 44513009 + Missense_Mutation SNP C C T TCGA-UF-A718-01A-22D-A34J-08 TCGA-UF-A718-10A-01D-A34M-08 g.chr19:44513009C>T c.83C>T c.(82-84)gCc>gTc p.A28V HNSC 19 44513052 44513052 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr19:44513052G>A c.126G>A c.(124-126)acG>acA p.T42T HNSC 19 44514424 44514424 + Missense_Mutation SNP G G A TCGA-CN-5361-01A-01D-1434-08 TCGA-CN-5361-10A-01D-1434-08 g.chr19:44514424G>A c.233G>A c.(232-234)gGc>gAc p.G78D HNSC 19 44515025 44515025 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 g.chr19:44515025G>A c.834G>A c.(832-834)aaG>aaA p.K278K HNSC 19 44515253 44515253 + Silent SNP T T C TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 g.chr19:44515253T>C c.1062T>C c.(1060-1062)caT>caC p.H354H LGG 19 44515547 44515547 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:44515547C>A c.1356C>A c.(1354-1356)gaC>gaA p.D452E LIHC 19 44514563 44514563 + Silent SNP C C G TCGA-CC-5263-01A-01D-A12Z-10 TCGA-CC-5263-10B-01D-A12Z-10 g.chr19:44514563C>G c.372C>G c.(370-372)tcC>tcG p.S124S LIHC 19 44515114 44515114 + Missense_Mutation SNP A A G TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr19:44515114A>G c.923A>G c.(922-924)tAc>tGc p.Y308C LIHC 19 44515439 44515440 + Frame_Shift_Ins INS - - A TCGA-K7-A6G5-01A-11D-A30V-10 TCGA-K7-A6G5-10A-01D-A30V-10 g.chr19:44515439_44515440insA c.1248_1249insA c.(1249-1251)aaafs p.K417fs LUAD 19 44514466 44514466 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr19:44514466G>T c.275G>T c.(274-276)tGc>tTc p.C92F LUAD 19 44514964 44514964 + Missense_Mutation SNP G G T TCGA-93-8067-01A-11D-2284-08 TCGA-93-8067-10A-01D-2284-08 g.chr19:44514964G>T c.773G>T c.(772-774)gGg>gTg p.G258V LUAD 19 44515277 44515277 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr19:44515277A>G c.1086A>G c.(1084-1086)aaA>aaG p.K362K LUAD 19 44515285 44515285 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr19:44515285G>A c.1094G>A c.(1093-1095)aGa>aAa p.R365K LUAD 19 44515399 44515399 + Missense_Mutation SNP G G T TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr19:44515399G>T c.1208G>T c.(1207-1209)cGg>cTg p.R403L LUAD 19 44515430 44515430 + Silent SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr19:44515430C>G c.1239C>G c.(1237-1239)ctC>ctG p.L413L LUSC 19 44512957 44512957 + Missense_Mutation SNP A A G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 g.chr19:44512957A>G c.31A>G c.(31-33)Aag>Gag p.K11E LUSC 19 44514653 44514653 + Missense_Mutation SNP C C G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr19:44514653C>G c.462C>G c.(460-462)atC>atG p.I154M LUSC 19 44514667 44514667 + Missense_Mutation SNP A A T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 g.chr19:44514667A>T c.476A>T c.(475-477)cAg>cTg p.Q159L LUSC 19 44514961 44514961 + Missense_Mutation SNP G G A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 g.chr19:44514961G>A c.770G>A c.(769-771)tGt>tAt p.C257Y LUSC 19 44515309 44515309 + Missense_Mutation SNP A A G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 g.chr19:44515309A>G c.1118A>G c.(1117-1119)tAc>tGc p.Y373C LUSC 19 44515453 44515453 + Missense_Mutation SNP A A G TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 g.chr19:44515453A>G c.1262A>G c.(1261-1263)aAa>aGa p.K421R LUSC 19 44515581 44515581 + Missense_Mutation SNP G G C TCGA-60-2711-01A-01D-1522-08 TCGA-60-2711-11A-01D-1522-08 g.chr19:44515581G>C c.1390G>C c.(1390-1392)Gat>Cat p.D464H PAAD 19 44514566 44514566 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:44514566G>T c.375G>T c.(373-375)caG>caT p.Q125H PAAD 19 44515396 44515396 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:44515396G>A c.1205G>A c.(1204-1206)aGc>aAc p.S402N PRAD 19 44514886 44514886 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr19:44514886G>A c.695G>A c.(694-696)gGc>gAc p.G232D PRAD 19 44515050 44515050 + Missense_Mutation SNP A A G TCGA-KK-A8IK-01A-11D-A364-08 TCGA-KK-A8IK-11A-11D-A362-08 g.chr19:44515050A>G c.859A>G c.(859-861)Aag>Gag p.K287E PRAD 19 44515531 44515531 + Nonsense_Mutation SNP C C A TCGA-EJ-7115-01A-11D-2114-08 TCGA-EJ-7115-10A-01D-2114-08 g.chr19:44515531C>A c.1340C>A c.(1339-1341)tCa>tAa p.S447* READ 19 44514982 44514982 + Missense_Mutation SNP A A G TCGA-AG-3896-01A-01W-1073-09 TCGA-AG-3896-10A-01W-1073-09 g.chr19:44514982A>G c.791A>G c.(790-792)gAt>gGt p.D264G SARC 19 44512953 44512953 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr19:44512953C>T c.27C>T c.(25-27)acC>acT p.T9T SARC 19 44514834 44514835 + Frame_Shift_Ins INS - - C TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 g.chr19:44514834_44514835insC c.643_644insC c.(643-645)gagfs p.E215fs SKCM 19 44513269 44513269 + Missense_Mutation SNP G G A TCGA-ER-A19S-06A-11D-A196-08 TCGA-ER-A19S-10A-01D-A198-08 g.chr19:44513269G>A c.176G>A c.(175-177)aGg>aAg p.R59K SKCM 19 44514558 44514558 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr19:44514558C>T c.367C>T c.(367-369)Ccc>Tcc p.P123S SKCM 19 44514591 44514591 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr19:44514591C>T c.400C>T c.(400-402)Cat>Tat p.H134Y SKCM 19 44514663 44514663 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:44514663C>T c.472C>T c.(472-474)Cct>Tct p.P158S SKCM 19 44514741 44514741 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr19:44514741C>T c.550C>T c.(550-552)Cgt>Tgt p.R184C SKCM 19 44514759 44514759 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr19:44514759C>T c.568C>T c.(568-570)Cac>Tac p.H190Y SKCM 19 44514759 44514759 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 g.chr19:44514759C>T c.568C>T c.(568-570)Cac>Tac p.H190Y SKCM 19 44515002 44515002 + Nonsense_Mutation SNP C C T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chr19:44515002C>T c.811C>T c.(811-813)Cag>Tag p.Q271* SKCM 19 44515263 44515263 + Missense_Mutation SNP C C T TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr19:44515263C>T c.1072C>T c.(1072-1074)Cac>Tac p.H358Y SKCM 19 44515279 44515279 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr19:44515279C>T c.1088C>T c.(1087-1089)cCa>cTa p.P363L SKCM 19 44515405 44515405 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 g.chr19:44515405C>T c.1214C>T c.(1213-1215)tCa>tTa p.S405L SKCM 19 44515476 44515476 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr19:44515476C>T c.1285C>T c.(1285-1287)Ctt>Ttt p.L429F SKCM 19 44515568 44515568 + Missense_Mutation SNP G G C TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr19:44515568G>C c.1377G>C c.(1375-1377)agG>agC p.R459S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 11 10528271 10528271 single base substitution C T downstream_gene_variant BRCA-EU 11 10530163 10530163 single base substitution T C downstream_gene_variant BRCA-EU 11 10531840 10531840 single base substitution C G downstream_gene_variant BRCA-EU 11 10531860 10531860 single base substitution G T downstream_gene_variant BRCA-EU 11 10532195 10532195 single base substitution C G downstream_gene_variant BRCA-EU 11 10534861 10534861 single base substitution C G 3_prime_UTR_variant BRCA-EU 11 10534861 10534861 single base substitution C G exon_variant BRCA-EU 11 10536891 10536891 single base substitution C T downstream_gene_variant BRCA-EU 11 10536891 10536891 single base substitution C T exon_variant BRCA-EU 11 10536891 10536891 single base substitution C T intron_variant BRCA-EU 11 10537930 10537957 deletion of <=200bp GTGAGACCTATACTTGCCTCAGCTTACA - downstream_gene_variant BRCA-EU 11 10537930 10537957 deletion of <=200bp GTGAGACCTATACTTGCCTCAGCTTACA - exon_variant BRCA-EU 11 10537930 10537957 deletion of <=200bp GTGAGACCTATACTTGCCTCAGCTTACA - intron_variant BRCA-EU 11 10540569 10540569 single base substitution T A 3_prime_UTR_variant BRCA-EU 11 10540569 10540569 single base substitution T A downstream_gene_variant BRCA-EU 11 10540569 10540569 single base substitution T A intron_variant BRCA-EU 11 10540569 10540569 single base substitution T A upstream_gene_variant BRCA-EU 11 10542122 10542122 deletion of <=200bp T - downstream_gene_variant BRCA-EU 11 10542122 10542122 deletion of <=200bp T - intron_variant BRCA-EU 11 10542122 10542122 deletion of <=200bp T - upstream_gene_variant BRCA-EU 11 10543611 10543611 deletion of <=200bp G - downstream_gene_variant BRCA-EU 11 10543611 10543611 deletion of <=200bp G - intron_variant BRCA-EU 11 10543611 10543611 deletion of <=200bp G - upstream_gene_variant BRCA-EU 11 10544108 10544108 single base substitution C G downstream_gene_variant BRCA-EU 11 10544108 10544108 single base substitution C G intron_variant BRCA-EU 11 10544108 10544108 single base substitution C G upstream_gene_variant BRCA-EU 11 10544221 10544222 deletion of <=200bp AC - downstream_gene_variant BRCA-EU 11 10544221 10544222 deletion of <=200bp AC - intron_variant BRCA-EU 11 10544221 10544222 deletion of <=200bp AC - upstream_gene_variant BRCA-EU 11 10544830 10544830 single base substitution A G downstream_gene_variant BRCA-EU 11 10544830 10544830 single base substitution A G intron_variant BRCA-EU 11 10546954 10546954 single base substitution G C intron_variant BRCA-EU 11 10547846 10547846 single base substitution C G intron_variant BRCA-EU 11 10547905 10547905 single base substitution G A intron_variant BRCA-EU 11 10549503 10549503 single base substitution C G intron_variant BRCA-EU 11 10551762 10551762 single base substitution T C intron_variant BRCA-EU 11 10552817 10552817 single base substitution G A intron_variant BRCA-EU 11 10553916 10553916 single base substitution A T intron_variant BRCA-EU 11 10554649 10554649 single base substitution C T intron_variant BRCA-EU 11 10556619 10556619 single base substitution T A intron_variant BRCA-EU 11 10562419 10562419 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 11 10562419 10562419 single base substitution G A intron_variant BRCA-EU 11 10562671 10562671 single base substitution C G splice_region_variant BRCA-EU 11 10562671 10562671 single base substitution C G upstream_gene_variant BRCA-EU 11 10565837 10565837 single base substitution G A upstream_gene_variant BRCA-FR 11 10531840 10531840 single base substitution C G downstream_gene_variant BRCA-FR 11 10547526 10547526 single base substitution C G intron_variant BRCA-UK 11 10531743 10531743 single base substitution G C downstream_gene_variant BRCA-UK 11 10531770 10531770 single base substitution A G downstream_gene_variant BRCA-UK 11 10531779 10531779 single base substitution C T downstream_gene_variant BRCA-UK 11 10531808 10531808 single base substitution G A downstream_gene_variant BRCA-UK 11 10546182 10546182 single base substitution G C downstream_gene_variant BRCA-UK 11 10546182 10546182 single base substitution G C intron_variant BRCA-UK 11 10552274 10552274 single base substitution C T 3_prime_UTR_variant BRCA-UK 11 10552274 10552274 single base substitution C T synonymous_variant Q56Q 168G>A CESC-US 11 10546848 10546848 single base substitution C A 3_prime_UTR_variant CESC-US 11 10546848 10546848 single base substitution C A missense_variant D109Y 325G>T CESC-US 11 10555624 10555624 single base substitution G A exon_variant CESC-US 11 10555624 10555624 single base substitution G A stop_gained R28* 82C>T CESC-US 11 10562858 10562858 single base substitution C A upstream_gene_variant COAD-US 11 10546877 10546877 single base substitution T G 3_prime_UTR_variant COAD-US 11 10546877 10546877 single base substitution T G missense_variant N99T 296A>C COAD-US 11 10555589 10555589 single base substitution A G exon_variant COAD-US 11 10555589 10555589 single base substitution A G synonymous_variant L39L 117T>C COCA-CN 11 10534321 10534321 single base substitution A T 3_prime_UTR_variant COCA-CN 11 10534321 10534321 single base substitution A T exon_variant COCA-CN 11 10536298 10536298 single base substitution T C 3_prime_UTR_variant COCA-CN 11 10536298 10536298 single base substitution T C downstream_gene_variant COCA-CN 11 10536298 10536298 single base substitution T C exon_variant COCA-CN 11 10536404 10536404 single base substitution C A 3_prime_UTR_variant COCA-CN 11 10536404 10536404 single base substitution C A downstream_gene_variant COCA-CN 11 10536404 10536404 single base substitution C A exon_variant COCA-CN 11 10540672 10540672 single base substitution C T missense_variant D151N 451G>A COCA-CN 11 10540672 10540672 single base substitution C T upstream_gene_variant COCA-CN 11 10553672 10553672 single base substitution C T intron_variant COCA-CN 11 10567636 10567636 single base substitution A T upstream_gene_variant EOPC-DE 11 10548898 10548898 single base substitution G A intron_variant EOPC-DE 11 10560490 10560490 single base substitution G A intron_variant ESAD-UK 11 10528267 10528267 single base substitution G A downstream_gene_variant ESAD-UK 11 10528466 10528466 single base substitution T G downstream_gene_variant ESAD-UK 11 10534321 10534321 single base substitution A T 3_prime_UTR_variant ESAD-UK 11 10534321 10534321 single base substitution A T exon_variant ESAD-UK 11 10535033 10535033 single base substitution A G 3_prime_UTR_variant ESAD-UK 11 10535033 10535033 single base substitution A G downstream_gene_variant ESAD-UK 11 10535033 10535033 single base substitution A G exon_variant ESAD-UK 11 10536329 10536329 single base substitution G T 3_prime_UTR_variant ESAD-UK 11 10536329 10536329 single base substitution G T downstream_gene_variant ESAD-UK 11 10536329 10536329 single base substitution G T exon_variant ESAD-UK 11 10537010 10537010 deletion of <=200bp T - downstream_gene_variant ESAD-UK 11 10537010 10537010 deletion of <=200bp T - exon_variant ESAD-UK 11 10537010 10537010 deletion of <=200bp T - intron_variant ESAD-UK 11 10537864 10537864 single base substitution T A downstream_gene_variant ESAD-UK 11 10537864 10537864 single base substitution T A exon_variant ESAD-UK 11 10537864 10537864 single base substitution T A intron_variant ESAD-UK 11 10537865 10537865 single base substitution C A downstream_gene_variant ESAD-UK 11 10537865 10537865 single base substitution C A exon_variant ESAD-UK 11 10537865 10537865 single base substitution C A intron_variant ESAD-UK 11 10544610 10544610 insertion of <=200bp - T downstream_gene_variant ESAD-UK 11 10544610 10544610 insertion of <=200bp - T intron_variant ESAD-UK 11 10545494 10545494 single base substitution C T downstream_gene_variant ESAD-UK 11 10545494 10545494 single base substitution C T intron_variant ESAD-UK 11 10545789 10545789 single base substitution C T downstream_gene_variant ESAD-UK 11 10545789 10545789 single base substitution C T intron_variant ESAD-UK 11 10547483 10547483 single base substitution C T intron_variant ESAD-UK 11 10552631 10552631 insertion of <=200bp - A intron_variant ESAD-UK 11 10552982 10552982 single base substitution C T intron_variant ESAD-UK 11 10555966 10555966 single base substitution A G intron_variant ESAD-UK 11 10556688 10556688 single base substitution C T intron_variant ESAD-UK 11 10557713 10557713 single base substitution G A intron_variant ESAD-UK 11 10563935 10563935 single base substitution G T upstream_gene_variant ESAD-UK 11 10564768 10564768 single base substitution A T upstream_gene_variant ESAD-UK 11 10565085 10565085 single base substitution G A upstream_gene_variant ESAD-UK 11 10566312 10566312 single base substitution G A upstream_gene_variant ESAD-UK 11 10566910 10566910 single base substitution C T upstream_gene_variant KIRC-US 11 10536463 10536463 single base substitution T A downstream_gene_variant KIRC-US 11 10536463 10536463 single base substitution T A exon_variant KIRC-US 11 10536463 10536463 single base substitution T A stop_lost *231C 693A>T LICA-FR 11 10557011 10557011 deletion of <=200bp A - intron_variant LICA-FR 11 10558544 10558544 single base substitution A G intron_variant LICA-FR 11 10559382 10559382 single base substitution T C intron_variant LINC-JP 11 10542754 10542754 single base substitution C A downstream_gene_variant LINC-JP 11 10542754 10542754 single base substitution C A intron_variant LINC-JP 11 10542754 10542754 single base substitution C A upstream_gene_variant LIRI-JP 11 10529930 10529930 single base substitution G A downstream_gene_variant LIRI-JP 11 10530886 10530886 single base substitution G A downstream_gene_variant LIRI-JP 11 10533524 10533524 single base substitution T C 3_prime_UTR_variant LIRI-JP 11 10533524 10533524 single base substitution T C exon_variant LIRI-JP 11 10538207 10538207 single base substitution A C downstream_gene_variant LIRI-JP 11 10538207 10538207 single base substitution A C exon_variant LIRI-JP 11 10538207 10538207 single base substitution A C intron_variant LIRI-JP 11 10542708 10542708 single base substitution A T downstream_gene_variant LIRI-JP 11 10542708 10542708 single base substitution A T intron_variant LIRI-JP 11 10542708 10542708 single base substitution A T upstream_gene_variant LIRI-JP 11 10545601 10545601 single base substitution T C downstream_gene_variant LIRI-JP 11 10545601 10545601 single base substitution T C intron_variant LIRI-JP 11 10545758 10545758 single base substitution G A downstream_gene_variant LIRI-JP 11 10545758 10545758 single base substitution G A intron_variant LIRI-JP 11 10545879 10545879 single base substitution G A downstream_gene_variant LIRI-JP 11 10545879 10545879 single base substitution G A intron_variant LIRI-JP 11 10548163 10548163 single base substitution T A intron_variant LIRI-JP 11 10551116 10551116 single base substitution T C intron_variant LIRI-JP 11 10551639 10551639 single base substitution T A intron_variant LIRI-JP 11 10553310 10553310 single base substitution G C intron_variant LIRI-JP 11 10555513 10555513 single base substitution G A intron_variant LIRI-JP 11 10555669 10555669 single base substitution T C exon_variant LIRI-JP 11 10555669 10555669 single base substitution T C missense_variant I13V 37A>G LIRI-JP 11 10555827 10555827 single base substitution A C intron_variant LIRI-JP 11 10556186 10556186 single base substitution C T intron_variant LIRI-JP 11 10558363 10558363 single base substitution T C intron_variant LIRI-JP 11 10562878 10562878 single base substitution G T upstream_gene_variant LIRI-JP 11 10564106 10564106 single base substitution A G upstream_gene_variant LIRI-JP 11 10566215 10566215 single base substitution G A upstream_gene_variant LIRI-JP 11 10567452 10567452 single base substitution G T upstream_gene_variant LIRI-JP 11 10567484 10567484 single base substitution A C upstream_gene_variant LUSC-KR 11 10530752 10530752 single base substitution G C downstream_gene_variant LUSC-KR 11 10533343 10533343 single base substitution G T 3_prime_UTR_variant LUSC-KR 11 10533343 10533343 single base substitution G T downstream_gene_variant LUSC-KR 11 10540117 10540117 single base substitution T C 3_prime_UTR_variant LUSC-KR 11 10540117 10540117 single base substitution T C downstream_gene_variant LUSC-KR 11 10540117 10540117 single base substitution T C intron_variant LUSC-KR 11 10540117 10540117 single base substitution T C upstream_gene_variant LUSC-KR 11 10560518 10560518 single base substitution C A intron_variant LUSC-KR 11 10566555 10566555 single base substitution C A upstream_gene_variant LUSC-US 11 10546918 10546918 single base substitution A C missense_variant I85M 255T>G LUSC-US 11 10546918 10546918 single base substitution A C splice_region_variant MALY-DE 11 10543777 10543777 single base substitution T G downstream_gene_variant MALY-DE 11 10543777 10543777 single base substitution T G intron_variant MALY-DE 11 10543777 10543777 single base substitution T G upstream_gene_variant MALY-DE 11 10547700 10547700 single base substitution A G intron_variant MALY-DE 11 10552634 10552634 single base substitution A G intron_variant MALY-DE 11 10555504 10555504 single base substitution A T intron_variant MALY-DE 11 10557847 10557847 single base substitution A G intron_variant MALY-DE 11 10564963 10564963 single base substitution T G upstream_gene_variant MELA-AU 11 10528973 10528973 single base substitution G A downstream_gene_variant MELA-AU 11 10528995 10528995 single base substitution G A downstream_gene_variant MELA-AU 11 10529158 10529158 single base substitution C T downstream_gene_variant MELA-AU 11 10529490 10529490 single base substitution C T downstream_gene_variant MELA-AU 11 10530014 10530015 deletion of <=200bp GT - downstream_gene_variant MELA-AU 11 10530151 10530152 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 10530395 10530395 single base substitution C T downstream_gene_variant MELA-AU 11 10530405 10530405 single base substitution G A downstream_gene_variant MELA-AU 11 10531069 10531069 single base substitution A T downstream_gene_variant MELA-AU 11 10531397 10531397 single base substitution A T downstream_gene_variant MELA-AU 11 10531519 10531519 single base substitution G A downstream_gene_variant MELA-AU 11 10531690 10531690 single base substitution T C downstream_gene_variant MELA-AU 11 10531697 10531697 single base substitution G A downstream_gene_variant MELA-AU 11 10532776 10532777 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 10532842 10532842 single base substitution G A downstream_gene_variant MELA-AU 11 10532861 10532861 single base substitution G A downstream_gene_variant MELA-AU 11 10533411 10533411 single base substitution G A 3_prime_UTR_variant MELA-AU 11 10533411 10533411 single base substitution G A downstream_gene_variant MELA-AU 11 10533496 10533496 single base substitution A G 3_prime_UTR_variant MELA-AU 11 10533496 10533496 single base substitution A G exon_variant MELA-AU 11 10533571 10533571 single base substitution T C 3_prime_UTR_variant MELA-AU 11 10533571 10533571 single base substitution T C exon_variant MELA-AU 11 10533838 10533838 single base substitution G A 3_prime_UTR_variant MELA-AU 11 10533838 10533838 single base substitution G A exon_variant MELA-AU 11 10534585 10534585 single base substitution A C 3_prime_UTR_variant MELA-AU 11 10534585 10534585 single base substitution A C exon_variant MELA-AU 11 10534918 10534918 single base substitution G A 3_prime_UTR_variant MELA-AU 11 10534918 10534918 single base substitution G A downstream_gene_variant MELA-AU 11 10534918 10534918 single base substitution G A exon_variant MELA-AU 11 10535530 10535531 multiple base substitution (>=2bp and <=200bp) CT TA 3_prime_UTR_variant MELA-AU 11 10535530 10535531 multiple base substitution (>=2bp and <=200bp) CT TA downstream_gene_variant MELA-AU 11 10535530 10535531 multiple base substitution (>=2bp and <=200bp) CT TA exon_variant MELA-AU 11 10535534 10535534 single base substitution A T 3_prime_UTR_variant MELA-AU 11 10535534 10535534 single base substitution A T downstream_gene_variant MELA-AU 11 10535534 10535534 single base substitution A T exon_variant MELA-AU 11 10535586 10535586 single base substitution G A 3_prime_UTR_variant MELA-AU 11 10535586 10535586 single base substitution G A downstream_gene_variant MELA-AU 11 10535586 10535586 single base substitution G A exon_variant MELA-AU 11 10536566 10536566 single base substitution C T downstream_gene_variant MELA-AU 11 10536566 10536566 single base substitution C T exon_variant MELA-AU 11 10536566 10536566 single base substitution C T missense_variant G197E 590G>A MELA-AU 11 10537001 10537001 single base substitution G A downstream_gene_variant MELA-AU 11 10537001 10537001 single base substitution G A exon_variant MELA-AU 11 10537001 10537001 single base substitution G A intron_variant MELA-AU 11 10537329 10537338 deletion of <=200bp GAAAAAATTC - downstream_gene_variant MELA-AU 11 10537329 10537338 deletion of <=200bp GAAAAAATTC - exon_variant MELA-AU 11 10537329 10537338 deletion of <=200bp GAAAAAATTC - intron_variant MELA-AU 11 10537343 10537343 single base substitution G A downstream_gene_variant MELA-AU 11 10537343 10537343 single base substitution G A exon_variant MELA-AU 11 10537343 10537343 single base substitution G A intron_variant MELA-AU 11 10537480 10537480 single base substitution G A downstream_gene_variant MELA-AU 11 10537480 10537480 single base substitution G A exon_variant MELA-AU 11 10537480 10537480 single base substitution G A intron_variant MELA-AU 11 10537636 10537636 single base substitution A C downstream_gene_variant MELA-AU 11 10537636 10537636 single base substitution A C exon_variant MELA-AU 11 10537636 10537636 single base substitution A C intron_variant MELA-AU 11 10538088 10538088 single base substitution G A downstream_gene_variant MELA-AU 11 10538088 10538088 single base substitution G A exon_variant MELA-AU 11 10538088 10538088 single base substitution G A intron_variant MELA-AU 11 10538338 10538338 single base substitution G A downstream_gene_variant MELA-AU 11 10538338 10538338 single base substitution G A exon_variant MELA-AU 11 10538338 10538338 single base substitution G A intron_variant MELA-AU 11 10538758 10538758 single base substitution A T downstream_gene_variant MELA-AU 11 10538758 10538758 single base substitution A T exon_variant MELA-AU 11 10538758 10538758 single base substitution A T intron_variant MELA-AU 11 10539001 10539001 single base substitution A C downstream_gene_variant MELA-AU 11 10539001 10539001 single base substitution A C exon_variant MELA-AU 11 10539001 10539001 single base substitution A C intron_variant MELA-AU 11 10539165 10539165 single base substitution G A downstream_gene_variant MELA-AU 11 10539165 10539165 single base substitution G A exon_variant MELA-AU 11 10539165 10539165 single base substitution G A intron_variant MELA-AU 11 10539193 10539193 single base substitution A G downstream_gene_variant MELA-AU 11 10539193 10539193 single base substitution A G exon_variant MELA-AU 11 10539193 10539193 single base substitution A G intron_variant MELA-AU 11 10539297 10539297 single base substitution G A downstream_gene_variant MELA-AU 11 10539297 10539297 single base substitution G A intron_variant MELA-AU 11 10539297 10539297 single base substitution G A upstream_gene_variant MELA-AU 11 10539341 10539341 single base substitution G A downstream_gene_variant MELA-AU 11 10539341 10539341 single base substitution G A intron_variant MELA-AU 11 10539341 10539341 single base substitution G A upstream_gene_variant MELA-AU 11 10540365 10540365 single base substitution A G 3_prime_UTR_variant MELA-AU 11 10540365 10540365 single base substitution A G downstream_gene_variant MELA-AU 11 10540365 10540365 single base substitution A G intron_variant MELA-AU 11 10540365 10540365 single base substitution A G upstream_gene_variant MELA-AU 11 10541116 10541116 single base substitution T G intron_variant MELA-AU 11 10541116 10541116 single base substitution T G upstream_gene_variant MELA-AU 11 10541511 10541511 single base substitution A G intron_variant MELA-AU 11 10541511 10541511 single base substitution A G upstream_gene_variant MELA-AU 11 10541712 10541712 single base substitution G A intron_variant MELA-AU 11 10541712 10541712 single base substitution G A upstream_gene_variant MELA-AU 11 10542742 10542742 single base substitution G A downstream_gene_variant MELA-AU 11 10542742 10542742 single base substitution G A intron_variant MELA-AU 11 10542742 10542742 single base substitution G A upstream_gene_variant MELA-AU 11 10542747 10542747 single base substitution T C downstream_gene_variant MELA-AU 11 10542747 10542747 single base substitution T C intron_variant MELA-AU 11 10542747 10542747 single base substitution T C upstream_gene_variant MELA-AU 11 10543417 10543417 single base substitution G A downstream_gene_variant MELA-AU 11 10543417 10543417 single base substitution G A intron_variant MELA-AU 11 10543417 10543417 single base substitution G A upstream_gene_variant MELA-AU 11 10543691 10543691 single base substitution G A downstream_gene_variant MELA-AU 11 10543691 10543691 single base substitution G A intron_variant MELA-AU 11 10543691 10543691 single base substitution G A upstream_gene_variant MELA-AU 11 10544553 10544553 single base substitution G A downstream_gene_variant MELA-AU 11 10544553 10544553 single base substitution G A intron_variant MELA-AU 11 10545004 10545004 single base substitution A G downstream_gene_variant MELA-AU 11 10545004 10545004 single base substitution A G intron_variant MELA-AU 11 10545108 10545108 single base substitution G A downstream_gene_variant MELA-AU 11 10545108 10545108 single base substitution G A intron_variant MELA-AU 11 10545235 10545235 single base substitution G A downstream_gene_variant MELA-AU 11 10545235 10545235 single base substitution G A intron_variant MELA-AU 11 10546177 10546177 single base substitution G A downstream_gene_variant MELA-AU 11 10546177 10546177 single base substitution G A intron_variant MELA-AU 11 10546449 10546466 deletion of <=200bp AAGGTGTTAACTATCTCC - downstream_gene_variant MELA-AU 11 10546449 10546466 deletion of <=200bp AAGGTGTTAACTATCTCC - intron_variant MELA-AU 11 10546986 10546986 single base substitution G A intron_variant MELA-AU 11 10546989 10546989 single base substitution G A intron_variant MELA-AU 11 10547022 10547022 single base substitution G A intron_variant MELA-AU 11 10547438 10547438 single base substitution G A intron_variant MELA-AU 11 10547666 10547666 single base substitution G A intron_variant MELA-AU 11 10547829 10547829 single base substitution G A intron_variant MELA-AU 11 10548354 10548354 single base substitution T A intron_variant MELA-AU 11 10549223 10549223 single base substitution G A intron_variant MELA-AU 11 10549680 10549681 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 10549681 10549681 single base substitution G A intron_variant MELA-AU 11 10550420 10550420 single base substitution G A intron_variant MELA-AU 11 10550533 10550533 single base substitution G A intron_variant MELA-AU 11 10550823 10550823 single base substitution G C intron_variant MELA-AU 11 10550945 10550945 single base substitution G A intron_variant MELA-AU 11 10551160 10551160 single base substitution G A intron_variant MELA-AU 11 10551602 10551602 single base substitution G A intron_variant MELA-AU 11 10552343 10552343 single base substitution T A intron_variant MELA-AU 11 10552648 10552648 single base substitution G A intron_variant MELA-AU 11 10553871 10553871 single base substitution G A intron_variant MELA-AU 11 10554653 10554653 single base substitution G A intron_variant MELA-AU 11 10554848 10554848 single base substitution A C intron_variant MELA-AU 11 10555186 10555186 single base substitution G C intron_variant MELA-AU 11 10555689 10555689 single base substitution G A exon_variant MELA-AU 11 10555689 10555689 single base substitution G A missense_variant S6L 17C>T MELA-AU 11 10555714 10555714 single base substitution G A 5_prime_UTR_variant MELA-AU 11 10556232 10556232 single base substitution G A intron_variant MELA-AU 11 10557551 10557551 single base substitution G A intron_variant MELA-AU 11 10557765 10557766 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 11 10558182 10558182 single base substitution G A intron_variant MELA-AU 11 10558814 10558814 single base substitution G A intron_variant MELA-AU 11 10558995 10558995 single base substitution G A intron_variant MELA-AU 11 10560784 10560784 single base substitution G A intron_variant MELA-AU 11 10560845 10560845 single base substitution G A intron_variant MELA-AU 11 10561677 10561677 single base substitution G A intron_variant MELA-AU 11 10561750 10561750 single base substitution G A intron_variant MELA-AU 11 10562231 10562231 single base substitution G A intron_variant MELA-AU 11 10562822 10562822 single base substitution A G upstream_gene_variant MELA-AU 11 10563511 10563511 single base substitution C T upstream_gene_variant MELA-AU 11 10563636 10563636 single base substitution C T upstream_gene_variant MELA-AU 11 10563940 10563940 single base substitution G A upstream_gene_variant MELA-AU 11 10563971 10563971 single base substitution G A upstream_gene_variant MELA-AU 11 10564019 10564019 single base substitution C T upstream_gene_variant MELA-AU 11 10564988 10564988 single base substitution C T upstream_gene_variant MELA-AU 11 10565086 10565086 single base substitution G A upstream_gene_variant MELA-AU 11 10565225 10565225 single base substitution G A upstream_gene_variant MELA-AU 11 10565353 10565353 single base substitution C T upstream_gene_variant MELA-AU 11 10565850 10565850 single base substitution G A upstream_gene_variant MELA-AU 11 10565934 10565934 single base substitution C T upstream_gene_variant MELA-AU 11 10566128 10566128 single base substitution G A upstream_gene_variant MELA-AU 11 10566306 10566306 single base substitution C T upstream_gene_variant MELA-AU 11 10566371 10566371 single base substitution C T upstream_gene_variant MELA-AU 11 10566386 10566387 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 11 10566458 10566458 single base substitution C T upstream_gene_variant MELA-AU 11 10566505 10566506 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 11 10566552 10566552 single base substitution G A upstream_gene_variant MELA-AU 11 10566710 10566710 single base substitution C T upstream_gene_variant MELA-AU 11 10566716 10566716 single base substitution G A upstream_gene_variant MELA-AU 11 10566746 10566746 single base substitution G A upstream_gene_variant MELA-AU 11 10566781 10566781 single base substitution G A upstream_gene_variant MELA-AU 11 10566789 10566789 single base substitution C T upstream_gene_variant MELA-AU 11 10566945 10566945 insertion of <=200bp - T upstream_gene_variant MELA-AU 11 10567249 10567249 single base substitution G A upstream_gene_variant MELA-AU 11 10567675 10567675 single base substitution G A upstream_gene_variant MELA-AU 11 10567736 10567736 single base substitution G A upstream_gene_variant ORCA-IN 11 10554082 10554082 single base substitution A C intron_variant ORCA-IN 11 10566312 10566312 single base substitution G A upstream_gene_variant OV-AU 11 10532779 10532779 single base substitution C T downstream_gene_variant OV-AU 11 10554011 10554011 single base substitution G A intron_variant OV-AU 11 10567172 10567172 single base substitution G A upstream_gene_variant PACA-AU 11 10530917 10530917 single base substitution C T downstream_gene_variant PACA-AU 11 10532116 10532116 single base substitution C T downstream_gene_variant PACA-AU 11 10540710 10540710 single base substitution G A intron_variant PACA-AU 11 10540710 10540710 single base substitution G A upstream_gene_variant PACA-AU 11 10542984 10542984 single base substitution T A downstream_gene_variant PACA-AU 11 10542984 10542984 single base substitution T A intron_variant PACA-AU 11 10542984 10542984 single base substitution T A upstream_gene_variant PACA-AU 11 10544001 10544001 single base substitution C T downstream_gene_variant PACA-AU 11 10544001 10544001 single base substitution C T intron_variant PACA-AU 11 10544001 10544001 single base substitution C T upstream_gene_variant PACA-AU 11 10549023 10549023 single base substitution C A intron_variant PACA-AU 11 10556427 10556427 single base substitution T A intron_variant PACA-AU 11 10561170 10561170 single base substitution C T intron_variant PACA-CA 11 10530609 10530609 single base substitution C G downstream_gene_variant PACA-CA 11 10531590 10531590 single base substitution G T downstream_gene_variant PACA-CA 11 10534506 10534506 single base substitution C T 3_prime_UTR_variant PACA-CA 11 10534506 10534506 single base substitution C T exon_variant PACA-CA 11 10535245 10535245 single base substitution G T 3_prime_UTR_variant PACA-CA 11 10535245 10535245 single base substitution G T downstream_gene_variant PACA-CA 11 10535245 10535245 single base substitution G T exon_variant PACA-CA 11 10542955 10542955 insertion of <=200bp - T downstream_gene_variant PACA-CA 11 10542955 10542955 insertion of <=200bp - T intron_variant PACA-CA 11 10542955 10542955 insertion of <=200bp - T upstream_gene_variant PACA-CA 11 10544427 10544427 single base substitution G A downstream_gene_variant PACA-CA 11 10544427 10544427 single base substitution G A intron_variant PACA-CA 11 10546586 10546586 single base substitution C G downstream_gene_variant PACA-CA 11 10546586 10546586 single base substitution C G intron_variant PACA-CA 11 10552279 10552279 insertion of <=200bp - A 3_prime_UTR_variant PACA-CA 11 10552279 10552279 insertion of <=200bp - A frameshift_variant G55V? PACA-CA 11 10552326 10552326 single base substitution T G intron_variant PACA-CA 11 10552783 10552783 single base substitution G A intron_variant PACA-CA 11 10556366 10556366 single base substitution C T intron_variant PACA-CA 11 10556412 10556412 single base substitution C T intron_variant PACA-CA 11 10557061 10557061 single base substitution A G intron_variant PACA-CA 11 10557243 10557243 single base substitution T A intron_variant PACA-CA 11 10565102 10565102 single base substitution T A upstream_gene_variant PACA-CA 11 10565624 10565624 single base substitution G A upstream_gene_variant PBCA-DE 11 10552771 10552771 single base substitution A G intron_variant PBCA-DE 11 10556802 10556802 single base substitution C T intron_variant PBCA-DE 11 10564815 10564815 single base substitution C T upstream_gene_variant PRAD-UK 11 10542300 10542300 single base substitution T C downstream_gene_variant PRAD-UK 11 10542300 10542300 single base substitution T C intron_variant PRAD-UK 11 10542300 10542300 single base substitution T C upstream_gene_variant PRAD-UK 11 10544189 10544189 single base substitution G A downstream_gene_variant PRAD-UK 11 10544189 10544189 single base substitution G A intron_variant PRAD-UK 11 10544189 10544189 single base substitution G A upstream_gene_variant RECA-EU 11 10529237 10529237 single base substitution A G downstream_gene_variant RECA-EU 11 10541209 10541209 single base substitution G A intron_variant RECA-EU 11 10541209 10541209 single base substitution G A upstream_gene_variant RECA-EU 11 10547525 10547525 single base substitution C G intron_variant RECA-EU 11 10552521 10552521 single base substitution C A intron_variant RECA-EU 11 10557662 10557662 single base substitution T G intron_variant RECA-EU 11 10567660 10567660 single base substitution A T upstream_gene_variant SKCA-BR 11 10529795 10529795 single base substitution G A downstream_gene_variant SKCA-BR 11 10532444 10532444 single base substitution C T downstream_gene_variant SKCA-BR 11 10538228 10538228 single base substitution C T downstream_gene_variant SKCA-BR 11 10538228 10538228 single base substitution C T exon_variant SKCA-BR 11 10538228 10538228 single base substitution C T intron_variant SKCA-BR 11 10539089 10539089 single base substitution G A downstream_gene_variant SKCA-BR 11 10539089 10539089 single base substitution G A exon_variant SKCA-BR 11 10539089 10539089 single base substitution G A intron_variant SKCA-BR 11 10540285 10540285 single base substitution G A 3_prime_UTR_variant SKCA-BR 11 10540285 10540285 single base substitution G A downstream_gene_variant SKCA-BR 11 10540285 10540285 single base substitution G A intron_variant SKCA-BR 11 10540285 10540285 single base substitution G A upstream_gene_variant SKCA-BR 11 10540973 10540973 single base substitution G A intron_variant SKCA-BR 11 10540973 10540973 single base substitution G A upstream_gene_variant SKCA-BR 11 10541212 10541212 single base substitution T G intron_variant SKCA-BR 11 10541212 10541212 single base substitution T G upstream_gene_variant SKCA-BR 11 10541213 10541216 deletion of <=200bp GGAA - intron_variant SKCA-BR 11 10541213 10541216 deletion of <=200bp GGAA - upstream_gene_variant SKCA-BR 11 10541217 10541217 insertion of <=200bp - CT intron_variant SKCA-BR 11 10541217 10541217 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 11 10542486 10542486 single base substitution G A downstream_gene_variant SKCA-BR 11 10542486 10542486 single base substitution G A intron_variant SKCA-BR 11 10542486 10542486 single base substitution G A upstream_gene_variant SKCA-BR 11 10556276 10556276 single base substitution G A intron_variant SKCA-BR 11 10561173 10561173 single base substitution G A intron_variant SKCA-BR 11 10561649 10561649 single base substitution G A intron_variant SKCA-BR 11 10562440 10562440 single base substitution A C 5_prime_UTR_variant SKCA-BR 11 10562440 10562440 single base substitution A C intron_variant SKCA-BR 11 10562823 10562823 single base substitution A G upstream_gene_variant SKCA-BR 11 10563984 10563984 single base substitution C T upstream_gene_variant SKCA-BR 11 10565725 10565725 single base substitution G A upstream_gene_variant SKCA-BR 11 10565983 10565983 single base substitution G A upstream_gene_variant SKCA-BR 11 10566679 10566679 single base substitution C T upstream_gene_variant SKCM-US 11 10546787 10546787 single base substitution T C 3_prime_UTR_variant SKCM-US 11 10546787 10546787 single base substitution T C missense_variant E129G 386A>G SKCM-US 11 10546848 10546848 single base substitution C G 3_prime_UTR_variant SKCM-US 11 10546848 10546848 single base substitution C G missense_variant D109H 325G>C SKCM-US 11 10555624 10555624 single base substitution G A exon_variant SKCM-US 11 10555624 10555624 single base substitution G A stop_gained R28* 82C>T STAD-US 11 10536575 10536575 single base substitution T C downstream_gene_variant STAD-US 11 10536575 10536575 single base substitution T C exon_variant STAD-US 11 10536575 10536575 single base substitution T C missense_variant Q194R 581A>G STAD-US 11 10546849 10546850 deletion of <=200bp TT - 3_prime_UTR_variant STAD-US 11 10546849 10546850 deletion of <=200bp TT - frameshift_variant K108 THCA-SA 11 10555589 10555589 single base substitution A G exon_variant THCA-SA 11 10555589 10555589 single base substitution A G synonymous_variant L39L 117T>C UCEC-US 11 10546812 10546812 single base substitution T G 3_prime_UTR_variant UCEC-US 11 10546812 10546812 single base substitution T G missense_variant S121R 361A>C UCEC-US 11 10552207 10552207 single base substitution G A 3_prime_UTR_variant UCEC-US 11 10552207 10552207 single base substitution G A missense_variant R79W 235C>T UCEC-US 11 10555654 10555654 single base substitution C A exon_variant UCEC-US 11 10555654 10555654 single base substitution C A stop_gained E18* 52G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-FW-A3R5-06 COSM2109318 c.82C>T p.R28* Substitution - Nonsense 11:10534077-10534077 - TCGA-BR-8487-01 COSM4079055 c.1261A>G p.K421E Substitution - Missense 19:44011300-44011300 + YUFIT COSM5390026 c.1188A>T p.E396D Substitution - Missense 19:44011227-44011227 + C086 COSM5542110 c.522A>G p.G174G Substitution - coding silent 19:44010561-44010561 + TCGA-66-2756-01 COSM712488 c.476A>T p.Q159L Substitution - Missense 19:44010515-44010515 + TCGA-ER-A19S-06 COSM3535393 c.176G>A p.R59K Substitution - Missense 19:44009117-44009117 + CHC1148T COSM4954685 c.1370A>G p.Y457C Substitution - Missense 19:44011409-44011409 + Gp5D COSM3289644 c.666A>G p.K222K Substitution - coding silent 19:44010705-44010705 + TCGA-66-2792-01 COSM712485 c.1262A>G p.K421R Substitution - Missense 19:44011301-44011301 + TCGA-D1-A103-01 COSM922486 c.235C>T p.R79W Substitution - Missense 11:10530660-10530660 - TCGA-56-5898-01 COSM712491 c.31A>G p.K11E Substitution - Missense 19:44008805-44008805 + TCGA-G4-6304-01 COSM5175694 c.125C>T p.T42M Substitution - Missense 19:44008899-44008899 + GC8_T COSM148663 c.1161T>G p.T387T Substitution - coding silent 19:44011200-44011200 + TCGA-D9-A6EC-06 COSM3535397 c.568C>T p.H190Y Substitution - Missense 19:44010607-44010607 + TCGA-A5-A0GA-01 COSM997768 c.298G>A p.A100T Substitution - Missense 19:44010337-44010337 + TCGA-AP-A051-01 COSM997774 c.910G>T p.A304S Substitution - Missense 19:44010949-44010949 + TCGA-B5-A0JY-01 COSM922487 c.52G>T p.E18* Substitution - Nonsense 11:10534107-10534107 - CSCC-30-T COSM4483656 c.271C>T p.P91S Substitution - Missense 19:44010310-44010310 + S02398 COSM5699604 c.8C>T p.T3I Substitution - Missense 19:44007086-44007086 + TCGA-AA-3852-01 COSM5113468 c.684A>C p.Q228H Substitution - Missense 19:44010723-44010723 + TCGA-AG-3896-01 COSM288927 c.791A>G p.D264G Substitution - Missense 19:44010830-44010830 + BCM723T COSM4956284 c.602G>A p.R201H Substitution - Missense 19:44010641-44010641 + HCA7 COSM4630488 c.540C>T p.I180I Substitution - coding silent 19:44010579-44010579 + CHC1148T COSM4954685 c.1370A>G p.Y457C Substitution - Missense 19:44011409-44011409 + CLL057 COSM1290968 c.989A>G p.H330R Substitution - Missense 19:44011028-44011028 + V-PH-19T COSM4770466 c.1360delG p.K455fs*7 Deletion - Frameshift 19:44011399-44011399 + HCT15 COSM3289652 c.830A>G p.E277G Substitution - Missense 19:44010869-44010869 + TCGA-D1-A17Q-01 COSM997772 c.563G>T p.R188I Substitution - Missense 19:44010602-44010602 + DLD1 COSM3289652 c.830A>G p.E277G Substitution - Missense 19:44010869-44010869 + H1993 COSM1196792 c.616A>T p.S206C Substitution - Missense 19:44010655-44010655 + CSCC-7-T COSM4509098 c.796C>T p.Q266* Substitution - Nonsense 19:44010835-44010835 + PT09_1 COSM3535397 c.568C>T p.H190Y Substitution - Missense 19:44010607-44010607 + TCGA-BR-8361-01 COSM4079052 c.994G>A p.G332R Substitution - Missense 19:44011033-44011033 + TCGA-AG-A00Y-01 COSM5072356 c.675A>T p.K225N Substitution - Missense 19:44010714-44010714 + TCGA-FW-A3R5-06 COSM3892796 c.472C>T p.P158S Substitution - Missense 19:44010511-44010511 + TCGA-EE-A2MS-06 COSM3535402 c.1285C>T p.L429F Substitution - Missense 19:44011324-44011324 + TCGA-BR-8361-01 COSM4079054 c.1247G>A p.R416Q Substitution - Missense 19:44011286-44011286 + CSCC-40-T COSM4490657 c.366C>T p.V122V Substitution - coding silent 19:44010405-44010405 + ccRCC-83 COSM1665150 c.898A>T p.M300L Substitution - Missense 19:44010937-44010937 + TCGA-EE-A2MI-06 COSM3535396 c.550C>T p.R184C Substitution - Missense 19:44010589-44010589 + TCGA-AG-A00Y-01 COSM5072354 c.669A>G p.P223P Substitution - coding silent 19:44010708-44010708 + TCGA-NH-A8F7-06 COSM5185523 c.390A>G p.L130L Substitution - coding silent 19:44010429-44010429 + CN-AML-CR-62-Dx COSM148664 c.1323C>A p.D441E Substitution - Missense 19:44011362-44011362 + sysucc-1242T COSM2109279 c.451G>A p.D151N Substitution - Missense 11:10519125-10519125 - TCGA-AG-A00Y-01 COSM5072355 c.671T>A p.F224Y Substitution - Missense 19:44010710-44010710 + A673 COSM4581172 c.382G>T p.A128S Substitution - Missense 19:44010421-44010421 + GC8_T COSM148664 c.1323C>A p.D441E Substitution - Missense 19:44011362-44011362 + C0017T COSM4422484 c.1400T>A p.L467* Substitution - Nonsense 19:44011439-44011439 + TCGA-EE-A2MR-06 COSM3535400 c.1088C>T p.P363L Substitution - Missense 19:44011127-44011127 + TCGA-DK-A1AC-01 COSM712489 c.462C>G p.I154M Substitution - Missense 19:44010501-44010501 + TCGA-EE-A2MR-06 COSM3442898 c.325G>C p.D109H Substitution - Missense 11:10525301-10525301 - SC_9047 COSM5542110 c.522A>G p.G174G Substitution - coding silent 19:44010561-44010561 + PD4203a COSM165768 c.343C>G p.H115D Substitution - Missense 19:44010382-44010382 + S02237 COSM5676513 c.1091A>G p.Y364C Substitution - Missense 19:44011130-44011130 + TCGA-34-5234-01 COSM712486 c.1118A>G p.Y373C Substitution - Missense 19:44011157-44011157 + ATL085 COSM5707062 c.1127A>C p.K376T Substitution - Missense 19:44011166-44011166 + TCGA-D3-A1Q8-06 COSM3535401 c.1214C>T p.S405L Substitution - Missense 19:44011253-44011253 + TCGA-AN-A046-01 COSM3823336 c.126G>A p.T42T Substitution - coding silent 19:44008900-44008900 + TCGA-BR-4184-01 COSM4079049 c.106G>A p.V36M Substitution - Missense 19:44008880-44008880 + TCGA-UB-A7MB-01 COSM4931455 c.923A>G p.Y308C Substitution - Missense 19:44010962-44010962 + TCGA-BH-A18P-01 COSM439732 c.34G>A p.D12N Substitution - Missense 19:44008808-44008808 + 61 COSM5741630 c.388C>A p.L130I Substitution - Missense 19:44010427-44010427 + TCGA-D3-A1Q6-06 COSM3535403 c.1361G>A p.G454E Substitution - Missense 19:44011400-44011400 + TCGA-BP-4803-01 COSM3358993 c.693A>T p.*231C Nonstop extension 11:10514916-10514916 - TCGA-B5-A0K2-01 COSM997773 c.789C>T p.H263H Substitution - coding silent 19:44010828-44010828 + pfg068T COSM4749878 c.435-1G>A p.? Unknown 11:10519142-10519142 - TCGA-C4-A0EZ-01 COSM415370 c.598G>A p.E200K Substitution - Missense 11:10515011-10515011 - TCGA-AA-A010-01 COSM286766 c.181G>T p.E61* Substitution - Nonsense 19:44009122-44009122 + TCGA-DA-A1HY-06 COSM3535398 c.811C>T p.Q271* Substitution - Nonsense 19:44010850-44010850 + CSCC-49-T COSM4514296 c.96C>T p.S32S Substitution - coding silent 11:10534063-10534063 - sysucc-1028T COSM5468971 c.471T>C p.P157P Substitution - coding silent 19:44010510-44010510 + TCGA-AZ-4315-01 COSM1394361 c.1384A>C p.N462H Substitution - Missense 19:44011423-44011423 + TCGA-CG-5721-01 COSM4079051 c.551G>A p.R184H Substitution - Missense 19:44010590-44010590 + 3N32-VS-3T32 COSM4980766 c.1379G>A p.R460H Substitution - Missense 19:44011418-44011418 + PAPNNX COSM4079049 c.106G>A p.V36M Substitution - Missense 19:44008880-44008880 + pfg068T COSM3289660 c.1378C>T p.R460C Substitution - Missense 19:44011417-44011417 + 514 COSM5611996 c.118G>A p.G40R Substitution - Missense 11:10534041-10534041 - HCC30T COSM1612370 c.711G>T p.A237A Substitution - coding silent 19:44010750-44010750 + TCGA-A6-5661-01 COSM1394362 c.1423T>C p.*475Q Nonstop extension 19:44011462-44011462 + TCGA-AG-A00Y-01 COSM5072358 c.1018G>C p.E340Q Substitution - Missense 19:44011057-44011057 + ME011T COSM224568 c.5C>T p.T2I Substitution - Missense 19:44007083-44007083 + ccRCC-83 COSM1663934 c.613T>C p.S205P Substitution - Missense 11:10514996-10514996 - TCGA-A7-A5ZV-01 COSM3823338 c.1133G>C p.G378A Substitution - Missense 19:44011172-44011172 + T155 COSM1176589 c.286C>T p.R96W Substitution - Missense 11:10525340-10525340 - TCGA-22-5477-01 COSM685707 c.255T>G p.I85M Substitution - Missense 11:10525371-10525371 - TCGA-FS-A1ZQ-06 COSM3535397 c.568C>T p.H190Y Substitution - Missense 19:44010607-44010607 + TCGA-CC-5263-01 COSM4919468 c.372C>G p.S124S Substitution - coding silent 19:44010411-44010411 + TCGA-C4-A0F0-01 COSM418187 c.285C>G p.I95M Substitution - Missense 19:44010324-44010324 + TCGA-BG-A0VT-01 COSM922470 c.361A>C p.S121R Substitution - Missense 11:10525265-10525265 - TCGA-HU-A4GT-01 COSM4079053 c.1052T>C p.L351P Substitution - Missense 19:44011091-44011091 + PD4125a COSM165770 c.447C>T p.F149F Substitution - coding silent 19:44010486-44010486 + TCGA-EJ-7115-01 COSM3672937 c.1340C>A p.S447* Substitution - Nonsense 19:44011379-44011379 + TCGA-CA-6717-01 COSM1350551 c.296A>C p.N99T Substitution - Missense 11:10525330-10525330 - TCGA-C5-A1BF-01 COSM4836716 c.325G>T p.D109Y Substitution - Missense 11:10525301-10525301 - TCGA-GV-A3JZ-01 COSM1304723 c.466G>C p.D156H Substitution - Missense 19:44010505-44010505 + HCC30 COSM1612370 c.711G>T p.A237A Substitution - coding silent 19:44010750-44010750 + TCGA-EE-A181-06 COSM3535404 c.1377G>C p.R459S Substitution - Missense 19:44011416-44011416 + PD9004a COSM5798560 c.357A>C p.Q119H Substitution - Missense 19:44010396-44010396 + PT23_1 COSM3535395 c.400C>T p.H134Y Substitution - Missense 19:44010439-44010439 + CN-AML-CR-62-Dx COSM148662 c.883C>A p.L295I Substitution - Missense 19:44010922-44010922 + TCGA-A2-A04T-01 COSM3823337 c.263A>G p.E88G Substitution - Missense 19:44010302-44010302 + TCGA-AP-A0LM-01 COSM997771 c.481T>C p.F161L Substitution - Missense 19:44010520-44010520 + 19 COSM3289660 c.1378C>T p.R460C Substitution - Missense 19:44011417-44011417 + CSCC-55-T COSM4475316 c.197C>T p.P66L Substitution - Missense 11:10530698-10530698 - TCGA-60-2698-01 COSM712489 c.462C>G p.I154M Substitution - Missense 19:44010501-44010501 + ATL074 COSM5707061 c.500C>T p.S167F Substitution - Missense 19:44010539-44010539 + PT33 COSM5909162 c.144-3C>T p.? Unknown 11:10530754-10530754 - T2269 COSM4743263 c.975G>A p.K325K Substitution - coding silent 19:44011014-44011014 + TCGA-21-1071-01 COSM712487 c.770G>A p.C257Y Substitution - Missense 19:44010809-44010809 + TCGA-BS-A0UF-01 COSM997770 c.423G>T p.Q141H Substitution - Missense 19:44010462-44010462 + CHEWS028 COSM4574000 c.18G>A p.S6S Substitution - coding silent 11:10534141-10534141 - TCGA-HC-7233-01 COSM3672936 c.1147C>A p.Q383K Substitution - Missense 19:44011186-44011186 + TCGA-EE-A181-06 COSM3535395 c.400C>T p.H134Y Substitution - Missense 19:44010439-44010439 + LUAD-RT-S01702 COSM378953 c.74C>T p.T25M Substitution - Missense 11:10534085-10534085 - ESO-0001 COSM1271166 c.837G>A p.P279P Substitution - coding silent 19:44010876-44010876 + TCGA-CM-4743-01 COSM5156272 c.571T>C p.L191L Substitution - coding silent 19:44010610-44010610 + HDC87 COSM4636991 c.901G>A p.V301I Substitution - Missense 19:44010940-44010940 + Gp2D COSM3289644 c.666A>G p.K222K Substitution - coding silent 19:44010705-44010705 + ESCC-F34 COSM5047556 c.87G>C p.Q29H Substitution - Missense 19:44008861-44008861 + CSCC-29-T COSM4490764 c.368C>T p.P123L Substitution - Missense 19:44010407-44010407 + PT09_2 COSM3535397 c.568C>T p.H190Y Substitution - Missense 19:44010607-44010607 + T3021 COSM4743262 c.40G>T p.A14S Substitution - Missense 19:44008814-44008814 + YUFIT COSM5371545 c.669G>A p.E223E Substitution - coding silent 11:10514940-10514940 - TCGA-BT-A20T-01 COSM418188 c.246G>A p.A82A Substitution - coding silent 19:44010285-44010285 + LUAD-D01603 COSM337554 c.936G>T p.E312D Substitution - Missense 19:44010975-44010975 + 113368 COSM324436 c.1386T>G p.N462K Substitution - Missense 19:44011425-44011425 + TCGA-AG-A00Y-01 COSM5072359 c.1029G>A p.K343K Substitution - coding silent 19:44011068-44011068 + ATL090 COSM5707060 c.275G>A p.C92Y Substitution - Missense 19:44010314-44010314 + GC8_T COSM148662 c.883C>A p.L295I Substitution - Missense 19:44010922-44010922 + BCM723T COSM4956284 c.602G>A p.R201H Substitution - Missense 19:44010641-44010641 + Pat_74_A COSM5837700 c.593delC p.A198fs*>33 Deletion - Frameshift 11:10515016-10515016 - LUAD-S01304 COSM385448 c.1379G>T p.R460L Substitution - Missense 19:44011418-44011418 + TCGA-BS-A0TA-01 COSM922471 c.279G>T p.E93D Substitution - Missense 11:10525347-10525347 - TCGA-FU-A3HZ-01 COSM2109318 c.82C>T p.R28* Substitution - Nonsense 11:10534077-10534077 - CSCC-49-T COSM4509054 c.795C>T p.F265F Substitution - coding silent 19:44010834-44010834 + TCGA-EE-A29N-06 COSM3535399 c.1072C>T p.H358Y Substitution - Missense 19:44011111-44011111 + TCGA-AG-A00Y-01 COSM5072357 c.1015A>G p.K339E Substitution - Missense 19:44011054-44011054 + TCGA-D7-A4YT-01 COSM4079050 c.271C>A p.P91T Substitution - Missense 19:44010310-44010310 + SJACT005_D COSM4968060 c.401A>G p.H134R Substitution - Missense 19:44010440-44010440 + TCGA-60-2711-01 COSM712484 c.1390G>C p.D464H Substitution - Missense 19:44011429-44011429 + TCGA-AX-A05Z-01 COSM997775 c.1018G>T p.E340* Substitution - Nonsense 19:44011057-44011057 + RK076_C01 COSM3699967 c.37A>G p.I13V Substitution - Missense 11:10534122-10534122 - AOCS-061-1-8 COSM4127696 c.1347A>G p.K449K Substitution - coding silent 19:44011386-44011386 + TCGA-AM-5821-01 COSM3752106 c.117T>C p.L39L Substitution - coding silent 11:10534042-10534042 - Pat_34_A COSM5837704 c.46T>G p.L16V Substitution - Missense 11:10534113-10534113 - 23 COSM5748513 c.1396A>G p.I466V Substitution - Missense 19:44011435-44011435 + TCGA-AG-A00Y-01 COSM5072360 c.1030A>G p.S344G Substitution - Missense 19:44011069-44011069 + TCGA-HF-7132-01 COSM3823336 c.126G>A p.T42T Substitution - coding silent 19:44008900-44008900 + 8058184 COSM3389108 c.57G>T p.E19D Substitution - Missense 19:44008831-44008831 + TCGA-ER-A19J-06 COSM3442897 c.386A>G p.E129G Substitution - Missense 11:10525240-10525240 - C086 COSM5542109 c.668C>T p.P223L Substitution - Missense 19:44010707-44010707 + TCGA-FD-A3SS-01 COSM3797205 c.561G>C p.Q187H Substitution - Missense 19:44010600-44010600 + TCGA-ET-A3DV-01 COSM3371351 c.945A>G p.K315K Substitution - coding silent 19:44010984-44010984 + TCGA-EE-A29E-06 COSM3535394 c.367C>T p.P123S Substitution - Missense 19:44010406-44010406 + HCC037T COSM5811862 c.1209G>T p.R403R Substitution - coding silent 19:44011248-44011248 + TCGA-AX-A0J0-01 COSM997769 c.348C>A p.F116L Substitution - Missense 19:44010387-44010387 + TCGA-D5-6927-01 COSM1394360 c.1248G>A p.R416R Substitution - coding silent 19:44011287-44011287 + SJOS001106_D1 COSM5024423 c.36T>G p.V12V Substitution - coding silent 11:10534123-10534123 - 250LT COSM148664 c.1323C>A p.D441E Substitution - Missense 19:44011362-44011362 + LC_C21 COSM1188172 c.511C>T p.H171Y Substitution - Missense 11:10519065-10519065 - TCGA-HU-A4GT-01 COSM4017452 c.581A>G p.Q194R Substitution - Missense 11:10515028-10515028 - sysucc-1028T COSM5468972 c.546T>G p.A182A Substitution - coding silent 19:44010585-44010585 + SNUH_G76_S1 COSM148662 c.883C>A p.L295I Substitution - Missense 19:44010922-44010922 + PD4106a COSM164042 c.168G>A p.Q56Q Substitution - coding silent 11:10530727-10530727 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.44650;Hs.44676;Hs.44677;Hs.44685 11p15.4 Hs.193583 19q13.31 2447912|CGAP|BC050340|A/C|non-coding||1550|Validated; 2447912|CGAP|BC094708|A/C|coding|Asp441Glu|1573|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.543-1594T>G 11 10538207 HC A C Missense p.I85M c.255T>G 11 10546918 LUSC C T Missense p.E200K c.598G>A 11 10536558 BLCA C T Missense p.R192H c.575G>A 11 10536581 GBM C T Synonymous p.Q175Q c.525G>A 11 10540598 LUAD C T Synonymous p.Q56Q c.168G>A 11 10552274 BRCA T A 3-UTRSNV . c.690+3A>T 11 10536463 RCCC T C 3-UTRSNV . c.690+2942A>G 11 10533524 HC T C Missense p.E129G c.386A>G 11 10546787 CM T G Missense p.S121R c.361A>C 11 10546812 UCEC A G Missense p.D264G c.791A>G 19 44514982 COREAD A G Missense p.H330R c.989A>G 19 44515180 CLL A G Missense p.K11E c.31A>G 19 44512957 LUSC A G Missense p.K421R c.1262A>G 19 44515453 LUSC A G Missense p.Y373C c.1118A>G 19 44515309 LUSC A G Synonymous p.K315K c.945A>G 19 44515136 THCA A T Missense p.Q159L c.476A>T 19 44514667 LUSC C A Missense p.Q383K c.1147C>A 19 44515338 PRAD C A Nonsense p.S447* c.1340C>A 19 44515531 PRAD C G Missense p.H115D c.343C>G 19 44514534 BRCA C G Missense p.I95M c.285C>G 19 44514476 BLCA C T 3-UTRSNV . c.1422+884C>T 19 44516497 MM C T Missense p.H134Y c.400C>T 19 44514591 CM C T Missense p.H190Y c.568C>T 19 44514759 CM C T Missense p.H358Y c.1072C>T 19 44515263 CM C T Missense p.L429F c.1285C>T 19 44515476 CM C T Missense p.R184C c.550C>T 19 44514741 CM C T Missense p.S106F c.317C>T 19 44514508 CM C T Missense p.S310F c.929C>T 19 44515120 CM C T Missense p.S405L c.1214C>T 19 44515405 CM C T Missense p.T2I c.5C>T 19 44511235 CM C T Missense p.T331I c.992C>T 19 44515183 STAD C T Nonsense p.Q271* c.811C>T 19 44515002 CM C T Synonymous p.F149F c.447C>T 19 44514638 BRCA C T Synonymous p.V122V c.366C>T 19 44514557 CM G A Missense p.A100T c.298G>A 19 44514489 UCEC G A Missense p.C257Y c.770G>A 19 44514961 LUSC G A Missense p.G454E c.1361G>A 19 44515552 CM G A Missense p.G78D c.233G>A 19 44514424 HNSC G A Missense p.R59K c.176G>A 19 44513269 CM G A Synonymous p.A82A c.246G>A 19 44514437 BLCA G A Synonymous p.K278K c.834G>A 19 44515025 HNSC G C Missense p.D156H c.466G>C 19 44514657 BLCA G C Missense p.D464H c.1390G>C 19 44515581 LUSC G C Missense p.R459S c.1377G>C 19 44515568 CM G T 3-UTRSNV . c.1422+26G>T 19 44515639 CM G T 3-UTRSNV . c.1422+31G>T 19 44515644 ESCA G T Missense p.R403L c.1208G>T 19 44515399 LUAD T G Missense p.N462K c.1386T>G 19 44515577 SCLC