Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 3 52436691 52436691 single base substitution C A downstream_gene_variant BLCA-CN 3 52436691 52436691 single base substitution C A splice_acceptor_variant BLCA-CN 3 52440360 52440360 single base substitution A G downstream_gene_variant BLCA-CN 3 52440360 52440360 single base substitution A G exon_variant BLCA-CN 3 52440360 52440360 single base substitution A G intron_variant BLCA-CN 3 52440360 52440360 single base substitution A G missense_variant M231T 692T>C BLCA-CN 3 52440360 52440360 single base substitution A G upstream_gene_variant BLCA-CN 3 52441265 52441265 single base substitution G A 3_prime_UTR_variant BLCA-CN 3 52441265 52441265 single base substitution G A exon_variant BLCA-CN 3 52441265 52441265 single base substitution G A intron_variant BLCA-CN 3 52441265 52441265 single base substitution G A missense_variant H169Y 505C>T BLCA-CN 3 52441265 52441265 single base substitution G A missense_variant H90Y 268C>T BLCA-CN 3 52441265 52441265 single base substitution G A upstream_gene_variant BLCA-US 3 52433606 52433606 insertion of <=200bp - GGTGC downstream_gene_variant BLCA-US 3 52436687 52436687 single base substitution C G downstream_gene_variant BLCA-US 3 52436687 52436687 single base substitution C G exon_variant BLCA-US 3 52436687 52436687 single base substitution C G missense_variant D187H 559G>C BLCA-US 3 52436687 52436687 single base substitution C G missense_variant D62H 184G>C BLCA-US 3 52436687 52436687 single base substitution C G missense_variant D645H 1933G>C BLCA-US 3 52436687 52436687 single base substitution C G missense_variant D663H 1987G>C BLCA-US 3 52436810 52436810 single base substitution C G downstream_gene_variant BLCA-US 3 52436810 52436810 single base substitution C G exon_variant BLCA-US 3 52436810 52436810 single base substitution C G missense_variant K180N 540G>C BLCA-US 3 52436810 52436810 single base substitution C G missense_variant K55N 165G>C BLCA-US 3 52436810 52436810 single base substitution C G missense_variant K638N 1914G>C BLCA-US 3 52436810 52436810 single base substitution C G missense_variant K656N 1968G>C BLCA-US 3 52436887 52436887 single base substitution C G downstream_gene_variant BLCA-US 3 52436887 52436887 single base substitution C G exon_variant BLCA-US 3 52436887 52436887 single base substitution C G intron_variant BLCA-US 3 52436887 52436887 single base substitution C G missense_variant E155Q 463G>C BLCA-US 3 52436887 52436887 single base substitution C G missense_variant E613Q 1837G>C BLCA-US 3 52436887 52436887 single base substitution C G missense_variant E631Q 1891G>C BLCA-US 3 52439230 52439230 single base substitution G A downstream_gene_variant BLCA-US 3 52439230 52439230 single base substitution G A exon_variant BLCA-US 3 52439230 52439230 single base substitution G A missense_variant P320S 958C>T BLCA-US 3 52439230 52439230 single base substitution G A missense_variant P338S 1012C>T BLCA-US 3 52439230 52439230 single base substitution G A upstream_gene_variant BLCA-US 3 52440379 52440379 single base substitution C G downstream_gene_variant BLCA-US 3 52440379 52440379 single base substitution C G exon_variant BLCA-US 3 52440379 52440379 single base substitution C G intron_variant BLCA-US 3 52440379 52440379 single base substitution C G missense_variant D225H 673G>C BLCA-US 3 52440379 52440379 single base substitution C G upstream_gene_variant BLCA-US 3 52442604 52442604 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 3 52442604 52442604 single base substitution G C exon_variant BLCA-US 3 52442604 52442604 single base substitution G C intron_variant BLCA-US 3 52442604 52442604 single base substitution G C missense_variant I47M 141C>G BLCA-US 3 52442604 52442604 single base substitution G C upstream_gene_variant BRCA-EU 3 52430506 52430506 single base substitution G A downstream_gene_variant BRCA-EU 3 52432407 52432407 single base substitution C G downstream_gene_variant BRCA-EU 3 52432786 52432786 single base substitution C G downstream_gene_variant BRCA-EU 3 52433145 52433145 single base substitution C G downstream_gene_variant BRCA-EU 3 52433184 52433184 single base substitution C G downstream_gene_variant BRCA-EU 3 52433369 52433369 single base substitution G A downstream_gene_variant BRCA-EU 3 52434300 52434300 single base substitution T C downstream_gene_variant BRCA-EU 3 52434909 52434909 single base substitution G C downstream_gene_variant BRCA-EU 3 52435733 52435733 single base substitution C T 3_prime_UTR_variant BRCA-EU 3 52435733 52435733 single base substitution C T downstream_gene_variant BRCA-EU 3 52435735 52435735 single base substitution C T 3_prime_UTR_variant BRCA-EU 3 52435735 52435735 single base substitution C T downstream_gene_variant BRCA-EU 3 52436977 52436977 single base substitution C T downstream_gene_variant BRCA-EU 3 52436977 52436977 single base substitution C T exon_variant BRCA-EU 3 52436977 52436977 single base substitution C T intron_variant BRCA-EU 3 52437352 52437352 single base substitution G C downstream_gene_variant BRCA-EU 3 52437352 52437352 single base substitution G C intron_variant BRCA-EU 3 52437627 52437627 single base substitution G A downstream_gene_variant BRCA-EU 3 52437627 52437627 single base substitution G A intron_variant BRCA-EU 3 52437627 52437627 single base substitution G A missense_variant R13C 37C>T BRCA-EU 3 52437627 52437627 single base substitution G A missense_variant R494C 1480C>T BRCA-EU 3 52437627 52437627 single base substitution G A missense_variant R512C 1534C>T BRCA-EU 3 52437627 52437627 single base substitution G A upstream_gene_variant BRCA-EU 3 52438282 52438282 deletion of <=200bp C - downstream_gene_variant BRCA-EU 3 52438282 52438282 deletion of <=200bp C - intron_variant BRCA-EU 3 52438282 52438282 deletion of <=200bp C - upstream_gene_variant BRCA-EU 3 52438495 52438495 single base substitution G A downstream_gene_variant BRCA-EU 3 52438495 52438495 single base substitution G A exon_variant BRCA-EU 3 52438495 52438495 single base substitution G A synonymous_variant D390D 1170C>T BRCA-EU 3 52438495 52438495 single base substitution G A synonymous_variant D408D 1224C>T BRCA-EU 3 52438495 52438495 single base substitution G A upstream_gene_variant BRCA-EU 3 52440297 52440297 single base substitution C G downstream_gene_variant BRCA-EU 3 52440297 52440297 single base substitution C G exon_variant BRCA-EU 3 52440297 52440297 single base substitution C G missense_variant R234P 701G>C BRCA-EU 3 52440297 52440297 single base substitution C G missense_variant R252P 755G>C BRCA-EU 3 52440297 52440297 single base substitution C G upstream_gene_variant BRCA-EU 3 52440297 52440297 single base substitution C T downstream_gene_variant BRCA-EU 3 52440297 52440297 single base substitution C T exon_variant BRCA-EU 3 52440297 52440297 single base substitution C T missense_variant R234H 701G>A BRCA-EU 3 52440297 52440297 single base substitution C T missense_variant R252H 755G>A BRCA-EU 3 52440297 52440297 single base substitution C T upstream_gene_variant BRCA-EU 3 52440554 52440554 single base substitution G C downstream_gene_variant BRCA-EU 3 52440554 52440554 single base substitution G C exon_variant BRCA-EU 3 52440554 52440554 single base substitution G C intron_variant BRCA-EU 3 52440554 52440554 single base substitution G C upstream_gene_variant BRCA-EU 3 52441487 52441487 single base substitution G C intron_variant BRCA-EU 3 52441487 52441487 single base substitution G C upstream_gene_variant BRCA-EU 3 52448406 52448406 single base substitution C G upstream_gene_variant BRCA-UK 3 52438985 52438985 single base substitution G C downstream_gene_variant BRCA-UK 3 52438985 52438985 single base substitution G C intron_variant BRCA-UK 3 52438985 52438985 single base substitution G C upstream_gene_variant BRCA-UK 3 52439557 52439557 single base substitution G A downstream_gene_variant BRCA-UK 3 52439557 52439557 single base substitution G A exon_variant BRCA-UK 3 52439557 52439557 single base substitution G A intron_variant BRCA-UK 3 52439557 52439557 single base substitution G A upstream_gene_variant BRCA-UK 3 52439874 52439874 single base substitution G A downstream_gene_variant BRCA-UK 3 52439874 52439874 single base substitution G A exon_variant BRCA-UK 3 52439874 52439874 single base substitution G A stop_gained Q262* 784C>T BRCA-UK 3 52439874 52439874 single base substitution G A stop_gained Q280* 838C>T BRCA-UK 3 52439874 52439874 single base substitution G A upstream_gene_variant BRCA-UK 3 52440379 52440379 single base substitution C T downstream_gene_variant BRCA-UK 3 52440379 52440379 single base substitution C T exon_variant BRCA-UK 3 52440379 52440379 single base substitution C T intron_variant BRCA-UK 3 52440379 52440379 single base substitution C T missense_variant D225N 673G>A BRCA-UK 3 52440379 52440379 single base substitution C T upstream_gene_variant BRCA-US 3 52430731 52430731 single base substitution A G downstream_gene_variant BRCA-US 3 52430733 52430733 single base substitution G C downstream_gene_variant BRCA-US 3 52430735 52430735 single base substitution G A downstream_gene_variant BRCA-US 3 52433155 52433155 insertion of <=200bp - T downstream_gene_variant BRCA-US 3 52436924 52436924 single base substitution G A downstream_gene_variant BRCA-US 3 52436924 52436924 single base substitution G A exon_variant BRCA-US 3 52436924 52436924 single base substitution G A intron_variant BRCA-US 3 52436924 52436924 single base substitution G A synonymous_variant A142A 426C>T BRCA-US 3 52437315 52437315 single base substitution C A downstream_gene_variant BRCA-US 3 52437315 52437315 single base substitution C A intron_variant BRCA-US 3 52437315 52437315 single base substitution C A splice_acceptor_variant BRCA-US 3 52437465 52437465 single base substitution C T downstream_gene_variant BRCA-US 3 52437465 52437465 single base substitution C T exon_variant BRCA-US 3 52437465 52437465 single base substitution C T intron_variant BRCA-US 3 52437465 52437465 single base substitution C T missense_variant E548K 1642G>A BRCA-US 3 52437465 52437465 single base substitution C T missense_variant E566K 1696G>A BRCA-US 3 52437465 52437465 single base substitution C T missense_variant E67K 199G>A BRCA-US 3 52437870 52437870 single base substitution C T downstream_gene_variant BRCA-US 3 52437870 52437870 single base substitution C T exon_variant BRCA-US 3 52437870 52437870 single base substitution C T missense_variant G22S 64G>A BRCA-US 3 52437870 52437870 single base substitution C T missense_variant G413S 1237G>A BRCA-US 3 52437870 52437870 single base substitution C T missense_variant G431S 1291G>A BRCA-US 3 52437870 52437870 single base substitution C T upstream_gene_variant BRCA-US 3 52440864 52440864 insertion of <=200bp - A downstream_gene_variant BRCA-US 3 52440864 52440864 insertion of <=200bp - A exon_variant BRCA-US 3 52440864 52440864 insertion of <=200bp - A frameshift_variant I214I? BRCA-US 3 52440864 52440864 insertion of <=200bp - A upstream_gene_variant BRCA-US 3 52442072 52442072 single base substitution T C 3_prime_UTR_variant BRCA-US 3 52442072 52442072 single base substitution T C exon_variant BRCA-US 3 52442072 52442072 single base substitution T C missense_variant T14A 40A>G BRCA-US 3 52442072 52442072 single base substitution T C missense_variant T93A 277A>G BRCA-US 3 52442072 52442072 single base substitution T C upstream_gene_variant BRCA-US 3 52442600 52442600 single base substitution G C 5_prime_UTR_variant BRCA-US 3 52442600 52442600 single base substitution G C exon_variant BRCA-US 3 52442600 52442600 single base substitution G C intron_variant BRCA-US 3 52442600 52442600 single base substitution G C missense_variant L49V 145C>G BRCA-US 3 52442600 52442600 single base substitution G C upstream_gene_variant BRCA-US 3 52442611 52442611 single base substitution C T 5_prime_UTR_variant BRCA-US 3 52442611 52442611 single base substitution C T exon_variant BRCA-US 3 52442611 52442611 single base substitution C T intron_variant BRCA-US 3 52442611 52442611 single base substitution C T missense_variant G45E 134G>A BRCA-US 3 52442611 52442611 single base substitution C T upstream_gene_variant BTCA-JP 3 52436632 52436632 insertion of <=200bp - A downstream_gene_variant BTCA-JP 3 52436632 52436632 insertion of <=200bp - A exon_variant BTCA-JP 3 52436632 52436632 insertion of <=200bp - A frameshift_variant M205I? BTCA-JP 3 52436632 52436632 insertion of <=200bp - A frameshift_variant M663I? BTCA-JP 3 52436632 52436632 insertion of <=200bp - A frameshift_variant M681I? BTCA-JP 3 52436632 52436632 insertion of <=200bp - A frameshift_variant M80I? BTCA-JP 3 52437557 52437557 deletion of <=200bp T - downstream_gene_variant BTCA-JP 3 52437557 52437557 deletion of <=200bp T - exon_variant BTCA-JP 3 52437557 52437557 deletion of <=200bp T - frameshift_variant D36 BTCA-JP 3 52437557 52437557 deletion of <=200bp T - frameshift_variant D517 BTCA-JP 3 52437557 52437557 deletion of <=200bp T - frameshift_variant D535 BTCA-JP 3 52437557 52437557 deletion of <=200bp T - intron_variant BTCA-JP 3 52437678 52437678 insertion of <=200bp - T downstream_gene_variant BTCA-JP 3 52437678 52437678 insertion of <=200bp - T frameshift_variant T477N? BTCA-JP 3 52437678 52437678 insertion of <=200bp - T frameshift_variant T495N? BTCA-JP 3 52437678 52437678 insertion of <=200bp - T intron_variant BTCA-JP 3 52437678 52437678 insertion of <=200bp - T upstream_gene_variant BTCA-JP 3 52437816 52437816 single base substitution C T downstream_gene_variant BTCA-JP 3 52437816 52437816 single base substitution C T exon_variant BTCA-JP 3 52437816 52437816 single base substitution C T missense_variant A431T 1291G>A BTCA-JP 3 52437816 52437816 single base substitution C T missense_variant A449T 1345G>A BTCA-JP 3 52437816 52437816 single base substitution C T splice_donor_variant BTCA-JP 3 52437816 52437816 single base substitution C T upstream_gene_variant BTCA-JP 3 52438566 52438566 single base substitution G A downstream_gene_variant BTCA-JP 3 52438566 52438566 single base substitution G A exon_variant BTCA-JP 3 52438566 52438566 single base substitution G A stop_gained R367* 1099C>T BTCA-JP 3 52438566 52438566 single base substitution G A stop_gained R385* 1153C>T BTCA-JP 3 52438566 52438566 single base substitution G A upstream_gene_variant BTCA-JP 3 52439913 52439913 single base substitution G A downstream_gene_variant BTCA-JP 3 52439913 52439913 single base substitution G A exon_variant BTCA-JP 3 52439913 52439913 single base substitution G A stop_gained Q249* 745C>T BTCA-JP 3 52439913 52439913 single base substitution G A stop_gained Q267* 799C>T BTCA-JP 3 52439913 52439913 single base substitution G A upstream_gene_variant BTCA-JP 3 52441226 52441226 single base substitution C A 3_prime_UTR_variant BTCA-JP 3 52441226 52441226 single base substitution C A exon_variant BTCA-JP 3 52441226 52441226 single base substitution C A intron_variant BTCA-JP 3 52441226 52441226 single base substitution C A stop_gained E103* 307G>T BTCA-JP 3 52441226 52441226 single base substitution C A stop_gained E182* 544G>T BTCA-JP 3 52441226 52441226 single base substitution C A upstream_gene_variant BTCA-JP 3 52441252 52441252 single base substitution T C 3_prime_UTR_variant BTCA-JP 3 52441252 52441252 single base substitution T C exon_variant BTCA-JP 3 52441252 52441252 single base substitution T C intron_variant BTCA-JP 3 52441252 52441252 single base substitution T C missense_variant Y173C 518A>G BTCA-JP 3 52441252 52441252 single base substitution T C missense_variant Y94C 281A>G BTCA-JP 3 52441252 52441252 single base substitution T C upstream_gene_variant BTCA-JP 3 52441266 52441266 single base substitution G A 3_prime_UTR_variant BTCA-JP 3 52441266 52441266 single base substitution G A exon_variant BTCA-JP 3 52441266 52441266 single base substitution G A intron_variant BTCA-JP 3 52441266 52441266 single base substitution G A synonymous_variant F168F 504C>T BTCA-JP 3 52441266 52441266 single base substitution G A synonymous_variant F89F 267C>T BTCA-JP 3 52441266 52441266 single base substitution G A upstream_gene_variant BTCA-JP 3 52441302 52441302 single base substitution C T 3_prime_UTR_variant BTCA-JP 3 52441302 52441302 single base substitution C T exon_variant BTCA-JP 3 52441302 52441302 single base substitution C T intron_variant BTCA-JP 3 52441302 52441302 single base substitution C T synonymous_variant Q156Q 468G>A BTCA-JP 3 52441302 52441302 single base substitution C T synonymous_variant Q77Q 231G>A BTCA-JP 3 52441302 52441302 single base substitution C T upstream_gene_variant BTCA-JP 3 52441312 52441312 deletion of <=200bp G - 3_prime_UTR_variant BTCA-JP 3 52441312 52441312 deletion of <=200bp G - exon_variant BTCA-JP 3 52441312 52441312 deletion of <=200bp G - frameshift_variant P153 BTCA-JP 3 52441312 52441312 deletion of <=200bp G - frameshift_variant P74 BTCA-JP 3 52441312 52441312 deletion of <=200bp G - intron_variant BTCA-JP 3 52441312 52441312 deletion of <=200bp G - upstream_gene_variant BTCA-JP 3 52441321 52441321 single base substitution C T 3_prime_UTR_variant BTCA-JP 3 52441321 52441321 single base substitution C T exon_variant BTCA-JP 3 52441321 52441321 single base substitution C T intron_variant BTCA-JP 3 52441321 52441321 single base substitution C T missense_variant R150H 449G>A BTCA-JP 3 52441321 52441321 single base substitution C T missense_variant R71H 212G>A BTCA-JP 3 52441321 52441321 single base substitution C T upstream_gene_variant BTCA-JP 3 52441333 52441333 single base substitution C A intron_variant BTCA-JP 3 52441333 52441333 single base substitution C A splice_acceptor_variant BTCA-JP 3 52441333 52441333 single base substitution C A upstream_gene_variant BTCA-JP 3 52441337 52441337 single base substitution G A intron_variant BTCA-JP 3 52441337 52441337 single base substitution G A splice_region_variant BTCA-JP 3 52441337 52441337 single base substitution G A upstream_gene_variant BTCA-JP 3 52441423 52441423 single base substitution G A 3_prime_UTR_variant BTCA-JP 3 52441423 52441423 single base substitution G A exon_variant BTCA-JP 3 52441423 52441423 single base substitution G A synonymous_variant S143S 429C>T BTCA-JP 3 52441423 52441423 single base substitution G A synonymous_variant S64S 192C>T BTCA-JP 3 52441423 52441423 single base substitution G A upstream_gene_variant BTCA-JP 3 52441448 52441448 deletion of <=200bp G - 3_prime_UTR_variant BTCA-JP 3 52441448 52441448 deletion of <=200bp G - exon_variant BTCA-JP 3 52441448 52441448 deletion of <=200bp G - frameshift_variant P135 BTCA-JP 3 52441448 52441448 deletion of <=200bp G - frameshift_variant P56 BTCA-JP 3 52441448 52441448 deletion of <=200bp G - upstream_gene_variant BTCA-JP 3 52441990 52441990 deletion of <=200bp T - 3_prime_UTR_variant BTCA-JP 3 52441990 52441990 deletion of <=200bp T - exon_variant BTCA-JP 3 52441990 52441990 deletion of <=200bp T - frameshift_variant K120 BTCA-JP 3 52441990 52441990 deletion of <=200bp T - frameshift_variant K41 BTCA-JP 3 52441990 52441990 deletion of <=200bp T - upstream_gene_variant BTCA-JP 3 52442512 52442512 deletion of <=200bp T - 5_prime_UTR_variant BTCA-JP 3 52442512 52442512 deletion of <=200bp T - exon_variant BTCA-JP 3 52442512 52442512 deletion of <=200bp T - frameshift_variant N78 BTCA-JP 3 52442512 52442512 deletion of <=200bp T - intron_variant BTCA-JP 3 52442512 52442512 deletion of <=200bp T - upstream_gene_variant BTCA-JP 3 52442534 52442534 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 3 52442534 52442534 single base substitution C T exon_variant BTCA-JP 3 52442534 52442534 single base substitution C T intron_variant BTCA-JP 3 52442534 52442534 single base substitution C T missense_variant V71M 211G>A BTCA-JP 3 52442534 52442534 single base substitution C T upstream_gene_variant BTCA-JP 3 52442570 52442570 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 3 52442570 52442570 single base substitution G A exon_variant BTCA-JP 3 52442570 52442570 single base substitution G A intron_variant BTCA-JP 3 52442570 52442570 single base substitution G A missense_variant R59W 175C>T BTCA-JP 3 52442570 52442570 single base substitution G A upstream_gene_variant BTCA-JP 3 52443569 52443569 deletion of <=200bp C - splice_donor_variant BTCA-JP 3 52443569 52443569 deletion of <=200bp C - upstream_gene_variant BTCA-JP 3 52443599 52443601 deletion of <=200bp CTC - 5_prime_UTR_variant BTCA-JP 3 52443599 52443601 deletion of <=200bp CTC - exon_variant BTCA-JP 3 52443599 52443601 deletion of <=200bp CTC - inframe_deletion E31 BTCA-JP 3 52443599 52443601 deletion of <=200bp CTC - upstream_gene_variant CESC-US 3 52432098 52432098 single base substitution C T downstream_gene_variant CESC-US 3 52433158 52433158 single base substitution C G downstream_gene_variant CESC-US 3 52437782 52437782 single base substitution G C downstream_gene_variant CESC-US 3 52437782 52437782 single base substitution G C exon_variant CESC-US 3 52437782 52437782 single base substitution G C intron_variant CESC-US 3 52437782 52437782 single base substitution G C stop_gained S442* 1325C>G CESC-US 3 52437782 52437782 single base substitution G C stop_gained S460* 1379C>G CESC-US 3 52437782 52437782 single base substitution G C upstream_gene_variant CESC-US 3 52437848 52437848 single base substitution G C downstream_gene_variant CESC-US 3 52437848 52437848 single base substitution G C exon_variant CESC-US 3 52437848 52437848 single base substitution G C stop_gained S29* 86C>G CESC-US 3 52437848 52437848 single base substitution G C stop_gained S420* 1259C>G CESC-US 3 52437848 52437848 single base substitution G C stop_gained S438* 1313C>G CESC-US 3 52437848 52437848 single base substitution G C upstream_gene_variant CESC-US 3 52439883 52439883 single base substitution G A downstream_gene_variant CESC-US 3 52439883 52439883 single base substitution G A exon_variant CESC-US 3 52439883 52439883 single base substitution G A stop_gained Q259* 775C>T CESC-US 3 52439883 52439883 single base substitution G A stop_gained Q277* 829C>T CESC-US 3 52439883 52439883 single base substitution G A upstream_gene_variant COAD-US 3 52430398 52430398 single base substitution C A downstream_gene_variant COAD-US 3 52430950 52430950 single base substitution T A downstream_gene_variant COAD-US 3 52431722 52431722 single base substitution G A downstream_gene_variant COAD-US 3 52431826 52431826 single base substitution C T downstream_gene_variant COAD-US 3 52432055 52432055 single base substitution A T downstream_gene_variant COAD-US 3 52433642 52433642 single base substitution C T downstream_gene_variant COAD-US 3 52437235 52437235 single base substitution G A downstream_gene_variant COAD-US 3 52437235 52437235 single base substitution G A exon_variant COAD-US 3 52437235 52437235 single base substitution G A intron_variant COAD-US 3 52437235 52437235 single base substitution G A synonymous_variant V104V 312C>T COAD-US 3 52437235 52437235 single base substitution G A synonymous_variant V585V 1755C>T COAD-US 3 52437235 52437235 single base substitution G A synonymous_variant V603V 1809C>T COAD-US 3 52437823 52437823 single base substitution G A downstream_gene_variant COAD-US 3 52437823 52437823 single base substitution G A exon_variant COAD-US 3 52437823 52437823 single base substitution G A synonymous_variant N37N 111C>T COAD-US 3 52437823 52437823 single base substitution G A synonymous_variant N428N 1284C>T COAD-US 3 52437823 52437823 single base substitution G A synonymous_variant N446N 1338C>T COAD-US 3 52437823 52437823 single base substitution G A upstream_gene_variant COAD-US 3 52439898 52439898 single base substitution G A downstream_gene_variant COAD-US 3 52439898 52439898 single base substitution G A exon_variant COAD-US 3 52439898 52439898 single base substitution G A stop_gained Q254* 760C>T COAD-US 3 52439898 52439898 single base substitution G A stop_gained Q272* 814C>T COAD-US 3 52439898 52439898 single base substitution G A upstream_gene_variant COAD-US 3 52440885 52440885 single base substitution G A downstream_gene_variant COAD-US 3 52440885 52440885 single base substitution G A exon_variant COAD-US 3 52440885 52440885 single base substitution G A missense_variant R207W 619C>T COAD-US 3 52440885 52440885 single base substitution G A upstream_gene_variant COAD-US 3 52441212 52441212 single base substitution C T 3_prime_UTR_variant COAD-US 3 52441212 52441212 single base substitution C T exon_variant COAD-US 3 52441212 52441212 single base substitution C T intron_variant COAD-US 3 52441212 52441212 single base substitution C T synonymous_variant L107L 321G>A COAD-US 3 52441212 52441212 single base substitution C T synonymous_variant L186L 558G>A COAD-US 3 52441212 52441212 single base substitution C T upstream_gene_variant COAD-US 3 52448585 52448585 single base substitution C T upstream_gene_variant COAD-US 3 52448586 52448586 single base substitution G A upstream_gene_variant COCA-CN 3 52436917 52436917 single base substitution C T downstream_gene_variant COCA-CN 3 52436917 52436917 single base substitution C T exon_variant COCA-CN 3 52436917 52436917 single base substitution C T intron_variant COCA-CN 3 52436917 52436917 single base substitution C T missense_variant D145N 433G>A COCA-CN 3 52437143 52437143 single base substitution C T downstream_gene_variant COCA-CN 3 52437143 52437143 single base substitution C T exon_variant COCA-CN 3 52437143 52437143 single base substitution C T intron_variant COCA-CN 3 52437144 52437144 single base substitution G A downstream_gene_variant COCA-CN 3 52437144 52437144 single base substitution G A exon_variant COCA-CN 3 52437144 52437144 single base substitution G A intron_variant COCA-CN 3 52438506 52438506 single base substitution C T downstream_gene_variant COCA-CN 3 52438506 52438506 single base substitution C T exon_variant COCA-CN 3 52438506 52438506 single base substitution C T missense_variant E387K 1159G>A COCA-CN 3 52438506 52438506 single base substitution C T missense_variant E405K 1213G>A COCA-CN 3 52438506 52438506 single base substitution C T upstream_gene_variant COCA-CN 3 52439969 52439969 single base substitution C T downstream_gene_variant COCA-CN 3 52439969 52439969 single base substitution C T intron_variant COCA-CN 3 52439969 52439969 single base substitution C T upstream_gene_variant COCA-CN 3 52440399 52440399 single base substitution T C downstream_gene_variant COCA-CN 3 52440399 52440399 single base substitution T C exon_variant COCA-CN 3 52440399 52440399 single base substitution T C intron_variant COCA-CN 3 52440399 52440399 single base substitution T C splice_region_variant COCA-CN 3 52440399 52440399 single base substitution T C upstream_gene_variant ESAD-UK 3 52432405 52432405 single base substitution C G downstream_gene_variant ESAD-UK 3 52432957 52432957 single base substitution C A downstream_gene_variant ESAD-UK 3 52437740 52437740 single base substitution G A downstream_gene_variant ESAD-UK 3 52437740 52437740 single base substitution G A exon_variant ESAD-UK 3 52437740 52437740 single base substitution G A intron_variant ESAD-UK 3 52437740 52437740 single base substitution G A missense_variant P456L 1367C>T ESAD-UK 3 52437740 52437740 single base substitution G A missense_variant P474L 1421C>T ESAD-UK 3 52437740 52437740 single base substitution G A upstream_gene_variant ESAD-UK 3 52437745 52437745 deletion of <=200bp C - downstream_gene_variant ESAD-UK 3 52437745 52437745 deletion of <=200bp C - exon_variant ESAD-UK 3 52437745 52437745 deletion of <=200bp C - frameshift_variant G454 ESAD-UK 3 52437745 52437745 deletion of <=200bp C - frameshift_variant G472 ESAD-UK 3 52437745 52437745 deletion of <=200bp C - intron_variant ESAD-UK 3 52437745 52437745 deletion of <=200bp C - upstream_gene_variant ESAD-UK 3 52439317 52439317 single base substitution C A downstream_gene_variant ESAD-UK 3 52439317 52439317 single base substitution C A exon_variant ESAD-UK 3 52439317 52439317 single base substitution C A splice_region_variant ESAD-UK 3 52439317 52439317 single base substitution C A upstream_gene_variant ESAD-UK 3 52440996 52440996 single base substitution G A downstream_gene_variant ESAD-UK 3 52440996 52440996 single base substitution G A intron_variant ESAD-UK 3 52440996 52440996 single base substitution G A upstream_gene_variant ESAD-UK 3 52442130 52442130 single base substitution C T intron_variant ESAD-UK 3 52442130 52442130 single base substitution C T upstream_gene_variant ESAD-UK 3 52442302 52442302 single base substitution G C intron_variant ESAD-UK 3 52442302 52442302 single base substitution G C upstream_gene_variant ESAD-UK 3 52446505 52446507 deletion of <=200bp AGC - upstream_gene_variant ESCA-CN 3 52430446 52430446 single base substitution C T downstream_gene_variant ESCA-CN 3 52439312 52439312 single base substitution T G downstream_gene_variant ESCA-CN 3 52439312 52439312 single base substitution T G exon_variant ESCA-CN 3 52439312 52439312 single base substitution T G splice_acceptor_variant ESCA-CN 3 52439312 52439312 single base substitution T G upstream_gene_variant ESCA-CN 3 52440295 52440295 single base substitution G A downstream_gene_variant ESCA-CN 3 52440295 52440295 single base substitution G A exon_variant ESCA-CN 3 52440295 52440295 single base substitution G A stop_gained Q235* 703C>T ESCA-CN 3 52440295 52440295 single base substitution G A stop_gained Q253* 757C>T ESCA-CN 3 52440295 52440295 single base substitution G A upstream_gene_variant ESCA-CN 3 52443870 52443870 single base substitution C T exon_variant ESCA-CN 3 52443870 52443870 single base substitution C T missense_variant E9K 25G>A ESCA-CN 3 52443870 52443870 single base substitution C T upstream_gene_variant GBM-US 3 52442518 52442518 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant GBM-US 3 52442518 52442518 single base substitution A G exon_variant GBM-US 3 52442518 52442518 single base substitution A G intron_variant GBM-US 3 52442518 52442518 single base substitution A G missense_variant I76T 227T>C GBM-US 3 52442518 52442518 single base substitution A G upstream_gene_variant KIRC-US 3 52436689 52436689 single base substitution A T downstream_gene_variant KIRC-US 3 52436689 52436689 single base substitution A T missense_variant I186N 557T>A KIRC-US 3 52436689 52436689 single base substitution A T missense_variant I61N 182T>A KIRC-US 3 52436689 52436689 single base substitution A T missense_variant I644N 1931T>A KIRC-US 3 52436689 52436689 single base substitution A T missense_variant I662N 1985T>A KIRC-US 3 52436689 52436689 single base substitution A T splice_region_variant KIRC-US 3 52437163 52437163 single base substitution G C downstream_gene_variant KIRC-US 3 52437163 52437163 single base substitution G C exon_variant KIRC-US 3 52437163 52437163 single base substitution G C intron_variant KIRC-US 3 52437163 52437163 single base substitution G C stop_gained Y128* 384C>G KIRC-US 3 52437163 52437163 single base substitution G C stop_gained Y609* 1827C>G KIRC-US 3 52437163 52437163 single base substitution G C stop_gained Y627* 1881C>G KIRC-US 3 52437168 52437168 single base substitution T A downstream_gene_variant KIRC-US 3 52437168 52437168 single base substitution T A exon_variant KIRC-US 3 52437168 52437168 single base substitution T A intron_variant KIRC-US 3 52437168 52437168 single base substitution T A stop_gained K127* 379A>T KIRC-US 3 52437168 52437168 single base substitution T A stop_gained K608* 1822A>T KIRC-US 3 52437168 52437168 single base substitution T A stop_gained K626* 1876A>T KIRC-US 3 52437782 52437782 single base substitution G C downstream_gene_variant KIRC-US 3 52437782 52437782 single base substitution G C exon_variant KIRC-US 3 52437782 52437782 single base substitution G C intron_variant KIRC-US 3 52437782 52437782 single base substitution G C stop_gained S442* 1325C>G KIRC-US 3 52437782 52437782 single base substitution G C stop_gained S460* 1379C>G KIRC-US 3 52437782 52437782 single base substitution G C upstream_gene_variant KIRC-US 3 52439219 52439238 deletion of <=200bp GCTGCCTGGAGGCTTCACCA - downstream_gene_variant KIRC-US 3 52439219 52439238 deletion of <=200bp GCTGCCTGGAGGCTTCACCA - exon_variant KIRC-US 3 52439219 52439238 deletion of <=200bp GCTGCCTGGAGGCTTCACCA - frameshift_variant VVKPPGS317 KIRC-US 3 52439219 52439238 deletion of <=200bp GCTGCCTGGAGGCTTCACCA - frameshift_variant VVKPPGS335 KIRC-US 3 52439219 52439238 deletion of <=200bp GCTGCCTGGAGGCTTCACCA - upstream_gene_variant KIRC-US 3 52439306 52439306 single base substitution A C downstream_gene_variant KIRC-US 3 52439306 52439306 single base substitution A C exon_variant KIRC-US 3 52439306 52439306 single base substitution A C synonymous_variant G294G 882T>G KIRC-US 3 52439306 52439306 single base substitution A C synonymous_variant G312G 936T>G KIRC-US 3 52439306 52439306 single base substitution A C upstream_gene_variant KIRC-US 3 52439876 52439876 single base substitution G T downstream_gene_variant KIRC-US 3 52439876 52439876 single base substitution G T exon_variant KIRC-US 3 52439876 52439876 single base substitution G T stop_gained S261* 782C>A KIRC-US 3 52439876 52439876 single base substitution G T stop_gained S279* 836C>A KIRC-US 3 52439876 52439876 single base substitution G T upstream_gene_variant KIRC-US 3 52439913 52439913 single base substitution G A downstream_gene_variant KIRC-US 3 52439913 52439913 single base substitution G A exon_variant KIRC-US 3 52439913 52439913 single base substitution G A stop_gained Q249* 745C>T KIRC-US 3 52439913 52439913 single base substitution G A stop_gained Q267* 799C>T KIRC-US 3 52439913 52439913 single base substitution G A upstream_gene_variant KIRC-US 3 52440367 52440367 single base substitution T G downstream_gene_variant KIRC-US 3 52440367 52440367 single base substitution T G exon_variant KIRC-US 3 52440367 52440367 single base substitution T G intron_variant KIRC-US 3 52440367 52440367 single base substitution T G missense_variant N229H 685A>C KIRC-US 3 52440367 52440367 single base substitution T G upstream_gene_variant KIRC-US 3 52441261 52441261 single base substitution A C 3_prime_UTR_variant KIRC-US 3 52441261 52441261 single base substitution A C exon_variant KIRC-US 3 52441261 52441261 single base substitution A C intron_variant KIRC-US 3 52441261 52441261 single base substitution A C missense_variant F170C 509T>G KIRC-US 3 52441261 52441261 single base substitution A C missense_variant F91C 272T>G KIRC-US 3 52441261 52441261 single base substitution A C upstream_gene_variant KIRC-US 3 52441262 52441262 single base substitution A C 3_prime_UTR_variant KIRC-US 3 52441262 52441262 single base substitution A C exon_variant KIRC-US 3 52441262 52441262 single base substitution A C intron_variant KIRC-US 3 52441262 52441262 single base substitution A C missense_variant F170V 508T>G KIRC-US 3 52441262 52441262 single base substitution A C missense_variant F91V 271T>G KIRC-US 3 52441262 52441262 single base substitution A C upstream_gene_variant KIRC-US 3 52441304 52441304 single base substitution G A 3_prime_UTR_variant KIRC-US 3 52441304 52441304 single base substitution G A exon_variant KIRC-US 3 52441304 52441304 single base substitution G A intron_variant KIRC-US 3 52441304 52441304 single base substitution G A stop_gained Q156* 466C>T KIRC-US 3 52441304 52441304 single base substitution G A stop_gained Q77* 229C>T KIRC-US 3 52441304 52441304 single base substitution G A upstream_gene_variant KIRC-US 3 52441418 52441418 single base substitution G C 3_prime_UTR_variant KIRC-US 3 52441418 52441418 single base substitution G C exon_variant KIRC-US 3 52441418 52441418 single base substitution G C missense_variant A145G 434C>G KIRC-US 3 52441418 52441418 single base substitution G C missense_variant A66G 197C>G KIRC-US 3 52441418 52441418 single base substitution G C upstream_gene_variant KIRC-US 3 52442023 52442023 single base substitution C A 3_prime_UTR_variant KIRC-US 3 52442023 52442023 single base substitution C A exon_variant KIRC-US 3 52442023 52442023 single base substitution C A missense_variant G109V 326G>T KIRC-US 3 52442023 52442023 single base substitution C A missense_variant G30V 89G>T KIRC-US 3 52442023 52442023 single base substitution C A upstream_gene_variant KIRC-US 3 52442512 52442512 single base substitution T C 5_prime_UTR_variant KIRC-US 3 52442512 52442512 single base substitution T C exon_variant KIRC-US 3 52442512 52442512 single base substitution T C intron_variant KIRC-US 3 52442512 52442512 single base substitution T C missense_variant N78S 233A>G KIRC-US 3 52442512 52442512 single base substitution T C upstream_gene_variant KIRC-US 3 52442521 52442521 single base substitution T C 5_prime_UTR_variant KIRC-US 3 52442521 52442521 single base substitution T C exon_variant KIRC-US 3 52442521 52442521 single base substitution T C intron_variant KIRC-US 3 52442521 52442521 single base substitution T C missense_variant D75G 224A>G KIRC-US 3 52442521 52442521 single base substitution T C upstream_gene_variant KIRC-US 3 52442567 52442567 single base substitution G A 5_prime_UTR_variant KIRC-US 3 52442567 52442567 single base substitution G A exon_variant KIRC-US 3 52442567 52442567 single base substitution G A intron_variant KIRC-US 3 52442567 52442567 single base substitution G A stop_gained R60* 178C>T KIRC-US 3 52442567 52442567 single base substitution G A upstream_gene_variant KIRC-US 3 52442585 52442585 single base substitution C T 5_prime_UTR_variant KIRC-US 3 52442585 52442585 single base substitution C T exon_variant KIRC-US 3 52442585 52442585 single base substitution C T intron_variant KIRC-US 3 52442585 52442585 single base substitution C T missense_variant E54K 160G>A KIRC-US 3 52442585 52442585 single base substitution C T upstream_gene_variant KIRC-US 3 52442600 52442600 single base substitution G C 5_prime_UTR_variant KIRC-US 3 52442600 52442600 single base substitution G C exon_variant KIRC-US 3 52442600 52442600 single base substitution G C intron_variant KIRC-US 3 52442600 52442600 single base substitution G C missense_variant L49V 145C>G KIRC-US 3 52442600 52442600 single base substitution G C upstream_gene_variant KIRC-US 3 52443568 52443568 single base substitution A T splice_donor_variant KIRC-US 3 52443568 52443568 single base substitution A T upstream_gene_variant KIRC-US 3 52443574 52443574 single base substitution G A 5_prime_UTR_variant KIRC-US 3 52443574 52443574 single base substitution G A exon_variant KIRC-US 3 52443574 52443574 single base substitution G A stop_gained Q40* 118C>T KIRC-US 3 52443574 52443574 single base substitution G A upstream_gene_variant KIRC-US 3 52443600 52443600 single base substitution T G 5_prime_UTR_variant KIRC-US 3 52443600 52443600 single base substitution T G exon_variant KIRC-US 3 52443600 52443600 single base substitution T G missense_variant E31A 92A>C KIRC-US 3 52443600 52443600 single base substitution T G upstream_gene_variant KIRC-US 3 52443623 52443647 deletion of <=200bp ACCTGCGATGAGGAAAGGAAAGCAG - frameshift_variant G23 KIRC-US 3 52443623 52443647 deletion of <=200bp ACCTGCGATGAGGAAAGGAAAGCAG - splice_acceptor_variant KIRC-US 3 52443623 52443647 deletion of <=200bp ACCTGCGATGAGGAAAGGAAAGCAG - upstream_gene_variant KIRC-US 3 52443747 52443747 single base substitution A G 5_prime_UTR_variant KIRC-US 3 52443747 52443747 single base substitution A G exon_variant KIRC-US 3 52443747 52443747 single base substitution A G missense_variant L17P 50T>C KIRC-US 3 52443747 52443747 single base substitution A G upstream_gene_variant KIRC-US 3 52443866 52443866 single base substitution C G exon_variant KIRC-US 3 52443866 52443866 single base substitution C G missense_variant S10T 29G>C KIRC-US 3 52443866 52443866 single base substitution C G upstream_gene_variant KIRC-US 3 52443892 52443892 single base substitution C T exon_variant KIRC-US 3 52443892 52443892 single base substitution C T start_lost M1I 3G>A KIRC-US 3 52443892 52443892 single base substitution C T upstream_gene_variant KIRC-US 3 52443894 52443894 single base substitution T C exon_variant KIRC-US 3 52443894 52443894 single base substitution T C start_lost M1V 1A>G KIRC-US 3 52443894 52443894 single base substitution T C upstream_gene_variant KIRP-US 3 52432935 52432935 single base substitution A G downstream_gene_variant KIRP-US 3 52437889 52437889 deletion of <=200bp C - downstream_gene_variant KIRP-US 3 52437889 52437889 deletion of <=200bp C - exon_variant KIRP-US 3 52437889 52437889 deletion of <=200bp C - frameshift_variant G15 KIRP-US 3 52437889 52437889 deletion of <=200bp C - frameshift_variant G406 KIRP-US 3 52437889 52437889 deletion of <=200bp C - frameshift_variant G424 KIRP-US 3 52437889 52437889 deletion of <=200bp C - upstream_gene_variant KIRP-US 3 52439271 52439271 deletion of <=200bp G - downstream_gene_variant KIRP-US 3 52439271 52439271 deletion of <=200bp G - exon_variant KIRP-US 3 52439271 52439271 deletion of <=200bp G - frameshift_variant P306 KIRP-US 3 52439271 52439271 deletion of <=200bp G - frameshift_variant P324 KIRP-US 3 52439271 52439271 deletion of <=200bp G - upstream_gene_variant KIRP-US 3 52439900 52439900 single base substitution A G downstream_gene_variant KIRP-US 3 52439900 52439900 single base substitution A G exon_variant KIRP-US 3 52439900 52439900 single base substitution A G missense_variant I253T 758T>C KIRP-US 3 52439900 52439900 single base substitution A G missense_variant I271T 812T>C KIRP-US 3 52439900 52439900 single base substitution A G upstream_gene_variant KIRP-US 3 52441190 52441190 single base substitution C T 3_prime_UTR_variant KIRP-US 3 52441190 52441190 single base substitution C T downstream_gene_variant KIRP-US 3 52441190 52441190 single base substitution C T intron_variant KIRP-US 3 52441190 52441190 single base substitution C T missense_variant G194R 580G>A KIRP-US 3 52441190 52441190 single base substitution C T splice_region_variant KIRP-US 3 52441190 52441190 single base substitution C T upstream_gene_variant KIRP-US 3 52443866 52443866 single base substitution C T exon_variant KIRP-US 3 52443866 52443866 single base substitution C T missense_variant S10N 29G>A KIRP-US 3 52443866 52443866 single base substitution C T upstream_gene_variant LIAD-FR 3 52437804 52437804 single base substitution T A downstream_gene_variant LIAD-FR 3 52437804 52437804 single base substitution T A exon_variant LIAD-FR 3 52437804 52437804 single base substitution T A intron_variant LIAD-FR 3 52437804 52437804 single base substitution T A stop_gained K435* 1303A>T LIAD-FR 3 52437804 52437804 single base substitution T A stop_gained K453* 1357A>T LIAD-FR 3 52437804 52437804 single base substitution T A upstream_gene_variant LICA-CN 3 52430988 52430988 single base substitution C T downstream_gene_variant LICA-CN 3 52432909 52432909 single base substitution C A downstream_gene_variant LICA-CN 3 52436412 52436412 single base substitution C G downstream_gene_variant LICA-CN 3 52436412 52436412 single base substitution C G exon_variant LICA-CN 3 52436412 52436412 single base substitution C G missense_variant Q218H 654G>C LICA-CN 3 52436412 52436412 single base substitution C G missense_variant Q676H 2028G>C LICA-CN 3 52436412 52436412 single base substitution C G missense_variant Q694H 2082G>C LICA-CN 3 52436412 52436412 single base substitution C G missense_variant Q93H 279G>C LICA-FR 3 52433561 52433561 single base substitution G A downstream_gene_variant LICA-FR 3 52436869 52436869 single base substitution T A downstream_gene_variant LICA-FR 3 52436869 52436869 single base substitution T A exon_variant LICA-FR 3 52436869 52436869 single base substitution T A intron_variant LICA-FR 3 52436869 52436869 single base substitution T A stop_gained K161* 481A>T LICA-FR 3 52436869 52436869 single base substitution T A stop_gained K619* 1855A>T LICA-FR 3 52436869 52436869 single base substitution T A stop_gained K637* 1909A>T LICA-FR 3 52436870 52436870 single base substitution C A downstream_gene_variant LICA-FR 3 52436870 52436870 single base substitution C A exon_variant LICA-FR 3 52436870 52436870 single base substitution C A intron_variant LICA-FR 3 52436870 52436870 single base substitution C A synonymous_variant L160L 480G>T LICA-FR 3 52436870 52436870 single base substitution C A synonymous_variant L618L 1854G>T LICA-FR 3 52436870 52436870 single base substitution C A synonymous_variant L636L 1908G>T LICA-FR 3 52441473 52441473 single base substitution T C 3_prime_UTR_variant LICA-FR 3 52441473 52441473 single base substitution T C exon_variant LICA-FR 3 52441473 52441473 single base substitution T C missense_variant K127E 379A>G LICA-FR 3 52441473 52441473 single base substitution T C missense_variant K48E 142A>G LICA-FR 3 52441473 52441473 single base substitution T C upstream_gene_variant LICA-FR 3 52442618 52442627 deletion of <=200bp CAGGGCTGGG - frameshift_variant GPV41 LICA-FR 3 52442618 52442627 deletion of <=200bp CAGGGCTGGG - intron_variant LICA-FR 3 52442618 52442627 deletion of <=200bp CAGGGCTGGG - splice_acceptor_variant LICA-FR 3 52442618 52442627 deletion of <=200bp CAGGGCTGGG - upstream_gene_variant LICA-FR 3 52443578 52443578 deletion of <=200bp T - 5_prime_UTR_variant LICA-FR 3 52443578 52443578 deletion of <=200bp T - exon_variant LICA-FR 3 52443578 52443578 deletion of <=200bp T - frameshift_variant K38 LICA-FR 3 52443578 52443578 deletion of <=200bp T - upstream_gene_variant LICA-FR 3 52443591 52443591 single base substitution T G 5_prime_UTR_variant LICA-FR 3 52443591 52443591 single base substitution T G exon_variant LICA-FR 3 52443591 52443591 single base substitution T G missense_variant D34A 101A>C LICA-FR 3 52443591 52443591 single base substitution T G upstream_gene_variant LICA-FR 3 52443600 52443600 deletion of <=200bp T - 5_prime_UTR_variant LICA-FR 3 52443600 52443600 deletion of <=200bp T - exon_variant LICA-FR 3 52443600 52443600 deletion of <=200bp T - frameshift_variant E31 LICA-FR 3 52443600 52443600 deletion of <=200bp T - upstream_gene_variant LICA-FR 3 52443758 52443758 single base substitution G A 5_prime_UTR_variant LICA-FR 3 52443758 52443758 single base substitution G A splice_region_variant LICA-FR 3 52443758 52443758 single base substitution G A upstream_gene_variant LIHC-US 3 52434364 52434364 single base substitution T A downstream_gene_variant LIHC-US 3 52436639 52436639 insertion of <=200bp - A downstream_gene_variant LIHC-US 3 52436639 52436639 insertion of <=200bp - A exon_variant LIHC-US 3 52436639 52436639 insertion of <=200bp - A frameshift_variant I203I? LIHC-US 3 52436639 52436639 insertion of <=200bp - A frameshift_variant I661I? LIHC-US 3 52436639 52436639 insertion of <=200bp - A frameshift_variant I679I? LIHC-US 3 52436639 52436639 insertion of <=200bp - A frameshift_variant I78I? LIHC-US 3 52436687 52436687 insertion of <=200bp - A downstream_gene_variant LIHC-US 3 52436687 52436687 insertion of <=200bp - A exon_variant LIHC-US 3 52436687 52436687 insertion of <=200bp - A frameshift_variant D187V? LIHC-US 3 52436687 52436687 insertion of <=200bp - A frameshift_variant D62V? LIHC-US 3 52436687 52436687 insertion of <=200bp - A frameshift_variant D645V? LIHC-US 3 52436687 52436687 insertion of <=200bp - A frameshift_variant D663V? LIHC-US 3 52437456 52437456 deletion of <=200bp C - downstream_gene_variant LIHC-US 3 52437456 52437456 deletion of <=200bp C - exon_variant LIHC-US 3 52437456 52437456 deletion of <=200bp C - frameshift_variant V551 LIHC-US 3 52437456 52437456 deletion of <=200bp C - frameshift_variant V569 LIHC-US 3 52437456 52437456 deletion of <=200bp C - frameshift_variant V70 LIHC-US 3 52437456 52437456 deletion of <=200bp C - intron_variant LIHC-US 3 52439874 52439874 single base substitution G A downstream_gene_variant LIHC-US 3 52439874 52439874 single base substitution G A exon_variant LIHC-US 3 52439874 52439874 single base substitution G A stop_gained Q262* 784C>T LIHC-US 3 52439874 52439874 single base substitution G A stop_gained Q280* 838C>T LIHC-US 3 52439874 52439874 single base substitution G A upstream_gene_variant LIHC-US 3 52440270 52440276 deletion of <=200bp TGCTGCA - downstream_gene_variant LIHC-US 3 52440270 52440276 deletion of <=200bp TGCTGCA - frameshift_variant LQQ241 LIHC-US 3 52440270 52440276 deletion of <=200bp TGCTGCA - frameshift_variant LQQ259 LIHC-US 3 52440270 52440276 deletion of <=200bp TGCTGCA - splice_region_variant LIHC-US 3 52440270 52440276 deletion of <=200bp TGCTGCA - upstream_gene_variant LIHC-US 3 52440295 52440295 single base substitution G A downstream_gene_variant LIHC-US 3 52440295 52440295 single base substitution G A exon_variant LIHC-US 3 52440295 52440295 single base substitution G A stop_gained Q235* 703C>T LIHC-US 3 52440295 52440295 single base substitution G A stop_gained Q253* 757C>T LIHC-US 3 52440295 52440295 single base substitution G A upstream_gene_variant LIHC-US 3 52440340 52440348 deletion of <=200bp TGCGGTCGG - disruptive_inframe_deletion PDRR235R LIHC-US 3 52440340 52440348 deletion of <=200bp TGCGGTCGG - downstream_gene_variant LIHC-US 3 52440340 52440348 deletion of <=200bp TGCGGTCGG - exon_variant LIHC-US 3 52440340 52440348 deletion of <=200bp TGCGGTCGG - splice_acceptor_variant LIHC-US 3 52440340 52440348 deletion of <=200bp TGCGGTCGG - upstream_gene_variant LIHC-US 3 52440918 52440918 single base substitution A C downstream_gene_variant LIHC-US 3 52440918 52440918 single base substitution A C exon_variant LIHC-US 3 52440918 52440918 single base substitution A C missense_variant W196G 586T>G LIHC-US 3 52440918 52440918 single base substitution A C upstream_gene_variant LIHC-US 3 52441262 52441262 single base substitution A C 3_prime_UTR_variant LIHC-US 3 52441262 52441262 single base substitution A C exon_variant LIHC-US 3 52441262 52441262 single base substitution A C intron_variant LIHC-US 3 52441262 52441262 single base substitution A C missense_variant F170V 508T>G LIHC-US 3 52441262 52441262 single base substitution A C missense_variant F91V 271T>G LIHC-US 3 52441262 52441262 single base substitution A C upstream_gene_variant LIHC-US 3 52441263 52441263 single base substitution G C 3_prime_UTR_variant LIHC-US 3 52441263 52441263 single base substitution G C exon_variant LIHC-US 3 52441263 52441263 single base substitution G C intron_variant LIHC-US 3 52441263 52441263 single base substitution G C missense_variant H169Q 507C>G LIHC-US 3 52441263 52441263 single base substitution G C missense_variant H90Q 270C>G LIHC-US 3 52441263 52441263 single base substitution G C upstream_gene_variant LIHC-US 3 52441334 52441334 single base substitution T A intron_variant LIHC-US 3 52441334 52441334 single base substitution T A splice_acceptor_variant LIHC-US 3 52441334 52441334 single base substitution T A upstream_gene_variant LIHC-US 3 52448577 52448577 single base substitution A G upstream_gene_variant LINC-JP 3 52431046 52431046 single base substitution A G downstream_gene_variant LINC-JP 3 52431942 52431942 single base substitution C A downstream_gene_variant LINC-JP 3 52434293 52434293 single base substitution G C downstream_gene_variant LINC-JP 3 52434478 52434478 single base substitution C T downstream_gene_variant LINC-JP 3 52436357 52436357 single base substitution G A downstream_gene_variant LINC-JP 3 52436357 52436357 single base substitution G A exon_variant LINC-JP 3 52436357 52436357 single base substitution G A missense_variant R112W 334C>T LINC-JP 3 52436357 52436357 single base substitution G A missense_variant R237W 709C>T LINC-JP 3 52436357 52436357 single base substitution G A missense_variant R695W 2083C>T LINC-JP 3 52436357 52436357 single base substitution G A missense_variant R713W 2137C>T LINC-JP 3 52437653 52437653 deletion of <=200bp A - downstream_gene_variant LINC-JP 3 52437653 52437653 deletion of <=200bp A - frameshift_variant F4 LINC-JP 3 52437653 52437653 deletion of <=200bp A - frameshift_variant F485 LINC-JP 3 52437653 52437653 deletion of <=200bp A - frameshift_variant F503 LINC-JP 3 52437653 52437653 deletion of <=200bp A - intron_variant LINC-JP 3 52437653 52437653 deletion of <=200bp A - upstream_gene_variant LINC-JP 3 52437917 52437917 single base substitution G T downstream_gene_variant LINC-JP 3 52437917 52437917 single base substitution G T intron_variant LINC-JP 3 52437917 52437917 single base substitution G T splice_region_variant LINC-JP 3 52437917 52437917 single base substitution G T upstream_gene_variant LINC-JP 3 52441091 52441091 single base substitution A C downstream_gene_variant LINC-JP 3 52441091 52441091 single base substitution A C intron_variant LINC-JP 3 52441091 52441091 single base substitution A C upstream_gene_variant LINC-JP 3 52441448 52441448 deletion of <=200bp G - 3_prime_UTR_variant LINC-JP 3 52441448 52441448 deletion of <=200bp G - exon_variant LINC-JP 3 52441448 52441448 deletion of <=200bp G - frameshift_variant P135 LINC-JP 3 52441448 52441448 deletion of <=200bp G - frameshift_variant P56 LINC-JP 3 52441448 52441448 deletion of <=200bp G - upstream_gene_variant LINC-JP 3 52441990 52441990 deletion of <=200bp T - 3_prime_UTR_variant LINC-JP 3 52441990 52441990 deletion of <=200bp T - exon_variant LINC-JP 3 52441990 52441990 deletion of <=200bp T - frameshift_variant K120 LINC-JP 3 52441990 52441990 deletion of <=200bp T - frameshift_variant K41 LINC-JP 3 52441990 52441990 deletion of <=200bp T - upstream_gene_variant LINC-JP 3 52443479 52443479 single base substitution C T intron_variant LINC-JP 3 52443479 52443479 single base substitution C T upstream_gene_variant LINC-JP 3 52448430 52448430 single base substitution T C upstream_gene_variant LIRI-JP 3 52430581 52430581 single base substitution C A downstream_gene_variant LIRI-JP 3 52435025 52435025 single base substitution T G downstream_gene_variant LIRI-JP 3 52439924 52439924 insertion of <=200bp - A downstream_gene_variant LIRI-JP 3 52439924 52439924 insertion of <=200bp - A exon_variant LIRI-JP 3 52439924 52439924 insertion of <=200bp - A frameshift_variant I245I? LIRI-JP 3 52439924 52439924 insertion of <=200bp - A frameshift_variant I263I? LIRI-JP 3 52439924 52439924 insertion of <=200bp - A upstream_gene_variant LIRI-JP 3 52440169 52440169 single base substitution G T downstream_gene_variant LIRI-JP 3 52440169 52440169 single base substitution G T intron_variant LIRI-JP 3 52440169 52440169 single base substitution G T upstream_gene_variant LIRI-JP 3 52440294 52440294 single base substitution T A downstream_gene_variant LIRI-JP 3 52440294 52440294 single base substitution T A exon_variant LIRI-JP 3 52440294 52440294 single base substitution T A missense_variant Q235L 704A>T LIRI-JP 3 52440294 52440294 single base substitution T A missense_variant Q253L 758A>T LIRI-JP 3 52440294 52440294 single base substitution T A upstream_gene_variant LIRI-JP 3 52440307 52440307 single base substitution T C downstream_gene_variant LIRI-JP 3 52440307 52440307 single base substitution T C exon_variant LIRI-JP 3 52440307 52440307 single base substitution T C missense_variant K231E 691A>G LIRI-JP 3 52440307 52440307 single base substitution T C missense_variant K249E 745A>G LIRI-JP 3 52440307 52440307 single base substitution T C upstream_gene_variant LIRI-JP 3 52440850 52440850 single base substitution A G downstream_gene_variant LIRI-JP 3 52440850 52440850 single base substitution A G exon_variant LIRI-JP 3 52440850 52440850 single base substitution A G synonymous_variant T218T 654T>C LIRI-JP 3 52440850 52440850 single base substitution A G upstream_gene_variant LIRI-JP 3 52440866 52440887 deletion of <=200bp CGCTCCATGATGACCCGCCGGG - downstream_gene_variant LIRI-JP 3 52440866 52440887 deletion of <=200bp CGCTCCATGATGACCCGCCGGG - exon_variant LIRI-JP 3 52440866 52440887 deletion of <=200bp CGCTCCATGATGACCCGCCGGG - frameshift_variant ARRVIMER206 LIRI-JP 3 52440866 52440887 deletion of <=200bp CGCTCCATGATGACCCGCCGGG - upstream_gene_variant LIRI-JP 3 52440914 52440914 single base substitution C G downstream_gene_variant LIRI-JP 3 52440914 52440914 single base substitution C G exon_variant LIRI-JP 3 52440914 52440914 single base substitution C G missense_variant G197A 590G>C LIRI-JP 3 52440914 52440914 single base substitution C G upstream_gene_variant LIRI-JP 3 52440918 52440918 single base substitution A C downstream_gene_variant LIRI-JP 3 52440918 52440918 single base substitution A C exon_variant LIRI-JP 3 52440918 52440918 single base substitution A C missense_variant W196G 586T>G LIRI-JP 3 52440918 52440918 single base substitution A C upstream_gene_variant LIRI-JP 3 52441268 52441268 single base substitution A G 3_prime_UTR_variant LIRI-JP 3 52441268 52441268 single base substitution A G exon_variant LIRI-JP 3 52441268 52441268 single base substitution A G intron_variant LIRI-JP 3 52441268 52441268 single base substitution A G missense_variant F168L 502T>C LIRI-JP 3 52441268 52441268 single base substitution A G missense_variant F89L 265T>C LIRI-JP 3 52441268 52441268 single base substitution A G upstream_gene_variant LIRI-JP 3 52441436 52441466 deletion of <=200bp TTGGCCAACTCCGGGGCATTGCCAATCGCAT - 3_prime_UTR_variant LIRI-JP 3 52441436 52441466 deletion of <=200bp TTGGCCAACTCCGGGGCATTGCCAATCGCAT - exon_variant LIRI-JP 3 52441436 52441466 deletion of <=200bp TTGGCCAACTCCGGGGCATTGCCAATCGCAT - frameshift_variant YAIGNAPELAK129 LIRI-JP 3 52441436 52441466 deletion of <=200bp TTGGCCAACTCCGGGGCATTGCCAATCGCAT - frameshift_variant YAIGNAPELAK50 LIRI-JP 3 52441436 52441466 deletion of <=200bp TTGGCCAACTCCGGGGCATTGCCAATCGCAT - upstream_gene_variant LIRI-JP 3 52442026 52442026 single base substitution A T 3_prime_UTR_variant LIRI-JP 3 52442026 52442026 single base substitution A T exon_variant LIRI-JP 3 52442026 52442026 single base substitution A T missense_variant L108Q 323T>A LIRI-JP 3 52442026 52442026 single base substitution A T missense_variant L29Q 86T>A LIRI-JP 3 52442026 52442026 single base substitution A T upstream_gene_variant LIRI-JP 3 52442929 52442929 single base substitution T C intron_variant LIRI-JP 3 52442929 52442929 single base substitution T C upstream_gene_variant LIRI-JP 3 52446019 52446019 single base substitution C A upstream_gene_variant LIRI-JP 3 52446020 52446020 single base substitution C A upstream_gene_variant LIRI-JP 3 52446389 52446389 single base substitution T C upstream_gene_variant LIRI-JP 3 52446513 52446513 single base substitution A G upstream_gene_variant LUSC-US 3 52430701 52430701 single base substitution A C downstream_gene_variant LUSC-US 3 52440372 52440372 single base substitution C T downstream_gene_variant LUSC-US 3 52440372 52440372 single base substitution C T exon_variant LUSC-US 3 52440372 52440372 single base substitution C T intron_variant LUSC-US 3 52440372 52440372 single base substitution C T missense_variant R227H 680G>A LUSC-US 3 52440372 52440372 single base substitution C T upstream_gene_variant LUSC-US 3 52443746 52443746 single base substitution C A 5_prime_UTR_variant LUSC-US 3 52443746 52443746 single base substitution C A exon_variant LUSC-US 3 52443746 52443746 single base substitution C A synonymous_variant L17L 51G>T LUSC-US 3 52443746 52443746 single base substitution C A upstream_gene_variant MALY-DE 3 52430717 52430717 single base substitution C T downstream_gene_variant MALY-DE 3 52440501 52440501 single base substitution A G downstream_gene_variant MALY-DE 3 52440501 52440501 single base substitution A G exon_variant MALY-DE 3 52440501 52440501 single base substitution A G intron_variant MALY-DE 3 52440501 52440501 single base substitution A G upstream_gene_variant MELA-AU 3 52430169 52430169 single base substitution T G downstream_gene_variant MELA-AU 3 52430301 52430301 single base substitution G A downstream_gene_variant MELA-AU 3 52430310 52430310 single base substitution G A downstream_gene_variant MELA-AU 3 52430612 52430612 single base substitution C T downstream_gene_variant MELA-AU 3 52430676 52430676 single base substitution C T downstream_gene_variant MELA-AU 3 52430783 52430783 single base substitution C T downstream_gene_variant MELA-AU 3 52431182 52431182 single base substitution C T downstream_gene_variant MELA-AU 3 52431312 52431312 single base substitution G A downstream_gene_variant MELA-AU 3 52431507 52431507 single base substitution G A downstream_gene_variant MELA-AU 3 52431706 52431706 single base substitution G A downstream_gene_variant MELA-AU 3 52431759 52431759 single base substitution G A downstream_gene_variant MELA-AU 3 52432391 52432392 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 52432859 52432859 single base substitution C T downstream_gene_variant MELA-AU 3 52433084 52433084 single base substitution G A downstream_gene_variant MELA-AU 3 52435204 52435204 single base substitution G A 3_prime_UTR_variant MELA-AU 3 52435204 52435204 single base substitution G A downstream_gene_variant MELA-AU 3 52435225 52435225 single base substitution G A 3_prime_UTR_variant MELA-AU 3 52435225 52435225 single base substitution G A downstream_gene_variant MELA-AU 3 52435562 52435562 single base substitution G A 3_prime_UTR_variant MELA-AU 3 52435562 52435562 single base substitution G A downstream_gene_variant MELA-AU 3 52436135 52436135 single base substitution G C 3_prime_UTR_variant MELA-AU 3 52436135 52436135 single base substitution G C downstream_gene_variant MELA-AU 3 52436135 52436135 single base substitution G C exon_variant MELA-AU 3 52436230 52436231 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 3 52436230 52436231 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 52436230 52436231 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 3 52436774 52436774 single base substitution G A downstream_gene_variant MELA-AU 3 52436774 52436774 single base substitution G A intron_variant MELA-AU 3 52436920 52436920 single base substitution G A downstream_gene_variant MELA-AU 3 52436920 52436920 single base substitution G A exon_variant MELA-AU 3 52436920 52436920 single base substitution G A intron_variant MELA-AU 3 52436920 52436920 single base substitution G A missense_variant P144S 430C>T MELA-AU 3 52437088 52437089 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 52437088 52437089 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 3 52437088 52437089 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 52437129 52437129 single base substitution G A downstream_gene_variant MELA-AU 3 52437129 52437129 single base substitution G A exon_variant MELA-AU 3 52437129 52437129 single base substitution G A intron_variant MELA-AU 3 52437511 52437511 single base substitution G A downstream_gene_variant MELA-AU 3 52437511 52437511 single base substitution G A exon_variant MELA-AU 3 52437511 52437511 single base substitution G A intron_variant MELA-AU 3 52437511 52437511 single base substitution G A synonymous_variant V51V 153C>T MELA-AU 3 52437511 52437511 single base substitution G A synonymous_variant V532V 1596C>T MELA-AU 3 52437511 52437511 single base substitution G A synonymous_variant V550V 1650C>T MELA-AU 3 52437946 52437946 single base substitution G A downstream_gene_variant MELA-AU 3 52437946 52437946 single base substitution G A intron_variant MELA-AU 3 52437946 52437946 single base substitution G A upstream_gene_variant MELA-AU 3 52438105 52438105 single base substitution G A downstream_gene_variant MELA-AU 3 52438105 52438105 single base substitution G A intron_variant MELA-AU 3 52438105 52438105 single base substitution G A upstream_gene_variant MELA-AU 3 52438422 52438422 single base substitution G A downstream_gene_variant MELA-AU 3 52438422 52438422 single base substitution G A intron_variant MELA-AU 3 52438422 52438422 single base substitution G A upstream_gene_variant MELA-AU 3 52438423 52438423 single base substitution G A downstream_gene_variant MELA-AU 3 52438423 52438423 single base substitution G A intron_variant MELA-AU 3 52438423 52438423 single base substitution G A upstream_gene_variant MELA-AU 3 52438527 52438527 single base substitution C A downstream_gene_variant MELA-AU 3 52438527 52438527 single base substitution C A exon_variant MELA-AU 3 52438527 52438527 single base substitution C A stop_gained E380* 1138G>T MELA-AU 3 52438527 52438527 single base substitution C A stop_gained E398* 1192G>T MELA-AU 3 52438527 52438527 single base substitution C A upstream_gene_variant MELA-AU 3 52439362 52439362 single base substitution A C downstream_gene_variant MELA-AU 3 52439362 52439362 single base substitution A C exon_variant MELA-AU 3 52439362 52439362 single base substitution A C intron_variant MELA-AU 3 52439362 52439362 single base substitution A C upstream_gene_variant MELA-AU 3 52439538 52439538 single base substitution C T downstream_gene_variant MELA-AU 3 52439538 52439538 single base substitution C T exon_variant MELA-AU 3 52439538 52439538 single base substitution C T intron_variant MELA-AU 3 52439538 52439538 single base substitution C T upstream_gene_variant MELA-AU 3 52439912 52439913 deletion of <=200bp TG - downstream_gene_variant MELA-AU 3 52439912 52439913 deletion of <=200bp TG - exon_variant MELA-AU 3 52439912 52439913 deletion of <=200bp TG - frameshift_variant Q249 MELA-AU 3 52439912 52439913 deletion of <=200bp TG - frameshift_variant Q267 MELA-AU 3 52439912 52439913 deletion of <=200bp TG - upstream_gene_variant MELA-AU 3 52439995 52439996 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 52439995 52439996 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 52439995 52439996 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 52440492 52440492 single base substitution G A downstream_gene_variant MELA-AU 3 52440492 52440492 single base substitution G A exon_variant MELA-AU 3 52440492 52440492 single base substitution G A intron_variant MELA-AU 3 52440492 52440492 single base substitution G A upstream_gene_variant MELA-AU 3 52440829 52440829 single base substitution G A downstream_gene_variant MELA-AU 3 52440829 52440829 single base substitution G A exon_variant MELA-AU 3 52440829 52440829 single base substitution G A intron_variant MELA-AU 3 52440829 52440829 single base substitution G A upstream_gene_variant MELA-AU 3 52442448 52442448 single base substitution G A intron_variant MELA-AU 3 52442448 52442448 single base substitution G A upstream_gene_variant MELA-AU 3 52443366 52443366 insertion of <=200bp - A intron_variant MELA-AU 3 52443366 52443366 insertion of <=200bp - A upstream_gene_variant MELA-AU 3 52443904 52443904 single base substitution G A 5_prime_UTR_variant MELA-AU 3 52443904 52443904 single base substitution G A upstream_gene_variant MELA-AU 3 52444913 52444913 single base substitution C T upstream_gene_variant MELA-AU 3 52447662 52447662 single base substitution C T upstream_gene_variant MELA-AU 3 52447952 52447952 single base substitution A T upstream_gene_variant MELA-AU 3 52449046 52449046 single base substitution C T upstream_gene_variant MELA-AU 3 52449304 52449304 single base substitution C T upstream_gene_variant ORCA-IN 3 52430664 52430664 single base substitution C T downstream_gene_variant OV-AU 3 52437887 52437887 single base substitution T G downstream_gene_variant OV-AU 3 52437887 52437887 single base substitution T G exon_variant OV-AU 3 52437887 52437887 single base substitution T G missense_variant K16T 47A>C OV-AU 3 52437887 52437887 single base substitution T G missense_variant K407T 1220A>C OV-AU 3 52437887 52437887 single base substitution T G missense_variant K425T 1274A>C OV-AU 3 52437887 52437887 single base substitution T G upstream_gene_variant OV-AU 3 52443861 52443861 single base substitution G C exon_variant OV-AU 3 52443861 52443861 single base substitution G C missense_variant P12A 34C>G OV-AU 3 52443861 52443861 single base substitution G C upstream_gene_variant PACA-AU 3 52432442 52432442 single base substitution C T downstream_gene_variant PACA-AU 3 52436442 52436442 single base substitution G C downstream_gene_variant PACA-AU 3 52436442 52436442 single base substitution G C intron_variant PACA-AU 3 52437635 52437635 single base substitution G T downstream_gene_variant PACA-AU 3 52437635 52437635 single base substitution G T intron_variant PACA-AU 3 52437635 52437635 single base substitution G T stop_gained S10* 29C>A PACA-AU 3 52437635 52437635 single base substitution G T stop_gained S491* 1472C>A PACA-AU 3 52437635 52437635 single base substitution G T stop_gained S509* 1526C>A PACA-AU 3 52437635 52437635 single base substitution G T upstream_gene_variant PACA-CA 3 52437592 52437592 single base substitution G A downstream_gene_variant PACA-CA 3 52437592 52437592 single base substitution G A intron_variant PACA-CA 3 52437592 52437592 single base substitution G A synonymous_variant V24V 72C>T PACA-CA 3 52437592 52437592 single base substitution G A synonymous_variant V505V 1515C>T PACA-CA 3 52437592 52437592 single base substitution G A synonymous_variant V523V 1569C>T PACA-CA 3 52437592 52437592 single base substitution G A upstream_gene_variant PACA-CA 3 52440697 52440697 single base substitution A G downstream_gene_variant PACA-CA 3 52440697 52440697 single base substitution A G exon_variant PACA-CA 3 52440697 52440697 single base substitution A G intron_variant PACA-CA 3 52440697 52440697 single base substitution A G upstream_gene_variant PACA-CA 3 52441391 52441391 single base substitution T C intron_variant PACA-CA 3 52441391 52441391 single base substitution T C upstream_gene_variant PACA-CA 3 52442028 52442028 single base substitution G T 3_prime_UTR_variant PACA-CA 3 52442028 52442028 single base substitution G T exon_variant PACA-CA 3 52442028 52442028 single base substitution G T missense_variant D107E 321C>A PACA-CA 3 52442028 52442028 single base substitution G T missense_variant D28E 84C>A PACA-CA 3 52442028 52442028 single base substitution G T upstream_gene_variant PACA-CA 3 52442538 52442538 single base substitution C T 5_prime_UTR_variant PACA-CA 3 52442538 52442538 single base substitution C T exon_variant PACA-CA 3 52442538 52442538 single base substitution C T intron_variant PACA-CA 3 52442538 52442538 single base substitution C T synonymous_variant T69T 207G>A PACA-CA 3 52442538 52442538 single base substitution C T upstream_gene_variant PACA-CA 3 52443049 52443049 single base substitution C G intron_variant PACA-CA 3 52443049 52443049 single base substitution C G upstream_gene_variant PBCA-DE 3 52435515 52435515 single base substitution G C 3_prime_UTR_variant PBCA-DE 3 52435515 52435515 single base substitution G C downstream_gene_variant PBCA-DE 3 52438250 52438250 single base substitution G C downstream_gene_variant PBCA-DE 3 52438250 52438250 single base substitution G C intron_variant PBCA-DE 3 52438250 52438250 single base substitution G C upstream_gene_variant PRAD-CA 3 52437542 52437542 single base substitution C T downstream_gene_variant PRAD-CA 3 52437542 52437542 single base substitution C T exon_variant PRAD-CA 3 52437542 52437542 single base substitution C T intron_variant PRAD-CA 3 52437542 52437542 single base substitution C T missense_variant R41H 122G>A PRAD-CA 3 52437542 52437542 single base substitution C T missense_variant R522H 1565G>A PRAD-CA 3 52437542 52437542 single base substitution C T missense_variant R540H 1619G>A PRAD-CA 3 52446886 52446886 single base substitution A T upstream_gene_variant PRAD-UK 3 52436480 52436492 deletion of <=200bp AGGCCAGGAGCTG - downstream_gene_variant PRAD-UK 3 52436480 52436492 deletion of <=200bp AGGCCAGGAGCTG - intron_variant PRAD-UK 3 52436492 52436492 single base substitution G C downstream_gene_variant PRAD-UK 3 52436492 52436492 single base substitution G C intron_variant PRAD-UK 3 52448204 52448204 single base substitution C A upstream_gene_variant PRAD-UK 3 52448283 52448283 deletion of <=200bp A - upstream_gene_variant PRAD-US 3 52430809 52430809 single base substitution A T downstream_gene_variant READ-US 3 52430434 52430434 single base substitution C T downstream_gene_variant READ-US 3 52436345 52436345 single base substitution G A downstream_gene_variant READ-US 3 52436345 52436345 single base substitution G A exon_variant READ-US 3 52436345 52436345 single base substitution G A missense_variant R116W 346C>T READ-US 3 52436345 52436345 single base substitution G A missense_variant R241W 721C>T READ-US 3 52436345 52436345 single base substitution G A missense_variant R699W 2095C>T READ-US 3 52436345 52436345 single base substitution G A missense_variant R717W 2149C>T RECA-EU 3 52436691 52436691 single base substitution C A downstream_gene_variant RECA-EU 3 52436691 52436691 single base substitution C A splice_acceptor_variant RECA-EU 3 52439362 52439362 single base substitution A G downstream_gene_variant RECA-EU 3 52439362 52439362 single base substitution A G exon_variant RECA-EU 3 52439362 52439362 single base substitution A G intron_variant RECA-EU 3 52439362 52439362 single base substitution A G upstream_gene_variant RECA-EU 3 52442066 52442066 single base substitution C G 3_prime_UTR_variant RECA-EU 3 52442066 52442066 single base substitution C G exon_variant RECA-EU 3 52442066 52442066 single base substitution C G missense_variant A16P 46G>C RECA-EU 3 52442066 52442066 single base substitution C G missense_variant A95P 283G>C RECA-EU 3 52442066 52442066 single base substitution C G upstream_gene_variant SKCA-BR 3 52441091 52441091 single base substitution A C downstream_gene_variant SKCA-BR 3 52441091 52441091 single base substitution A C intron_variant SKCA-BR 3 52441091 52441091 single base substitution A C upstream_gene_variant SKCA-BR 3 52448049 52448049 single base substitution C T upstream_gene_variant SKCM-US 3 52430761 52430761 single base substitution G A downstream_gene_variant SKCM-US 3 52431002 52431002 single base substitution A C downstream_gene_variant SKCM-US 3 52431033 52431033 single base substitution C T downstream_gene_variant SKCM-US 3 52433001 52433001 single base substitution G A downstream_gene_variant SKCM-US 3 52433084 52433084 single base substitution G A downstream_gene_variant SKCM-US 3 52433701 52433701 single base substitution G A downstream_gene_variant SKCM-US 3 52434413 52434413 single base substitution G A downstream_gene_variant SKCM-US 3 52436850 52436850 single base substitution A G downstream_gene_variant SKCM-US 3 52436850 52436850 single base substitution A G exon_variant SKCM-US 3 52436850 52436850 single base substitution A G missense_variant I167T 500T>C SKCM-US 3 52436850 52436850 single base substitution A G missense_variant I42T 125T>C SKCM-US 3 52436850 52436850 single base substitution A G missense_variant I625T 1874T>C SKCM-US 3 52436850 52436850 single base substitution A G missense_variant I643T 1928T>C SKCM-US 3 52437159 52437159 single base substitution G A downstream_gene_variant SKCM-US 3 52437159 52437159 single base substitution G A exon_variant SKCM-US 3 52437159 52437159 single base substitution G A intron_variant SKCM-US 3 52437159 52437159 single base substitution G A missense_variant P130S 388C>T SKCM-US 3 52437159 52437159 single base substitution G A missense_variant P611S 1831C>T SKCM-US 3 52437159 52437159 single base substitution G A missense_variant P629S 1885C>T SKCM-US 3 52438469 52438469 single base substitution C A downstream_gene_variant SKCM-US 3 52438469 52438469 single base substitution C A missense_variant R399M 1196G>T SKCM-US 3 52438469 52438469 single base substitution C A missense_variant R417M 1250G>T SKCM-US 3 52438469 52438469 single base substitution C A missense_variant R8M 23G>T SKCM-US 3 52438469 52438469 single base substitution C A splice_region_variant SKCM-US 3 52438469 52438469 single base substitution C A upstream_gene_variant SKCM-US 3 52438473 52438473 single base substitution G A downstream_gene_variant SKCM-US 3 52438473 52438473 single base substitution G A exon_variant SKCM-US 3 52438473 52438473 single base substitution G A missense_variant L398F 1192C>T SKCM-US 3 52438473 52438473 single base substitution G A missense_variant L416F 1246C>T SKCM-US 3 52438473 52438473 single base substitution G A missense_variant L7F 19C>T SKCM-US 3 52438473 52438473 single base substitution G A upstream_gene_variant SKCM-US 3 52439273 52439273 single base substitution G A downstream_gene_variant SKCM-US 3 52439273 52439273 single base substitution G A exon_variant SKCM-US 3 52439273 52439273 single base substitution G A synonymous_variant A305A 915C>T SKCM-US 3 52439273 52439273 single base substitution G A synonymous_variant A323A 969C>T SKCM-US 3 52439273 52439273 single base substitution G A upstream_gene_variant SKCM-US 3 52441424 52441424 single base substitution C T 3_prime_UTR_variant SKCM-US 3 52441424 52441424 single base substitution C T exon_variant SKCM-US 3 52441424 52441424 single base substitution C T missense_variant S143N 428G>A SKCM-US 3 52441424 52441424 single base substitution C T missense_variant S64N 191G>A SKCM-US 3 52441424 52441424 single base substitution C T upstream_gene_variant SKCM-US 3 52441477 52441477 single base substitution C T splice_acceptor_variant SKCM-US 3 52441477 52441477 single base substitution C T upstream_gene_variant SKCM-US 3 52442559 52442559 single base substitution G A 5_prime_UTR_variant SKCM-US 3 52442559 52442559 single base substitution G A exon_variant SKCM-US 3 52442559 52442559 single base substitution G A intron_variant SKCM-US 3 52442559 52442559 single base substitution G A synonymous_variant V62V 186C>T SKCM-US 3 52442559 52442559 single base substitution G A upstream_gene_variant SKCM-US 3 52443604 52443604 single base substitution C T 5_prime_UTR_variant SKCM-US 3 52443604 52443604 single base substitution C T exon_variant SKCM-US 3 52443604 52443604 single base substitution C T missense_variant E30K 88G>A SKCM-US 3 52443604 52443604 single base substitution C T upstream_gene_variant STAD-US 3 52430481 52430481 single base substitution C T downstream_gene_variant STAD-US 3 52431783 52431783 single base substitution C T downstream_gene_variant STAD-US 3 52433040 52433040 single base substitution A G downstream_gene_variant STAD-US 3 52433185 52433185 single base substitution A G downstream_gene_variant STAD-US 3 52433758 52433758 single base substitution T G downstream_gene_variant STAD-US 3 52436395 52436395 single base substitution C T downstream_gene_variant STAD-US 3 52436395 52436395 single base substitution C T exon_variant STAD-US 3 52436395 52436395 single base substitution C T missense_variant R224Q 671G>A STAD-US 3 52436395 52436395 single base substitution C T missense_variant R682Q 2045G>A STAD-US 3 52436395 52436395 single base substitution C T missense_variant R700Q 2099G>A STAD-US 3 52436395 52436395 single base substitution C T missense_variant R99Q 296G>A STAD-US 3 52437205 52437205 single base substitution C T downstream_gene_variant STAD-US 3 52437205 52437205 single base substitution C T exon_variant STAD-US 3 52437205 52437205 single base substitution C T intron_variant STAD-US 3 52437205 52437205 single base substitution C T synonymous_variant T114T 342G>A STAD-US 3 52437205 52437205 single base substitution C T synonymous_variant T595T 1785G>A STAD-US 3 52437205 52437205 single base substitution C T synonymous_variant T613T 1839G>A STAD-US 3 52437234 52437234 single base substitution C T downstream_gene_variant STAD-US 3 52437234 52437234 single base substitution C T exon_variant STAD-US 3 52437234 52437234 single base substitution C T intron_variant STAD-US 3 52437234 52437234 single base substitution C T missense_variant V105M 313G>A STAD-US 3 52437234 52437234 single base substitution C T missense_variant V586M 1756G>A STAD-US 3 52437234 52437234 single base substitution C T missense_variant V604M 1810G>A STAD-US 3 52437509 52437509 single base substitution C T downstream_gene_variant STAD-US 3 52437509 52437509 single base substitution C T exon_variant STAD-US 3 52437509 52437509 single base substitution C T intron_variant STAD-US 3 52437509 52437509 single base substitution C T missense_variant R52H 155G>A STAD-US 3 52437509 52437509 single base substitution C T missense_variant R533H 1598G>A STAD-US 3 52437509 52437509 single base substitution C T missense_variant R551H 1652G>A STAD-US 3 52437539 52437539 single base substitution A C downstream_gene_variant STAD-US 3 52437539 52437539 single base substitution A C exon_variant STAD-US 3 52437539 52437539 single base substitution A C intron_variant STAD-US 3 52437539 52437539 single base substitution A C missense_variant V42G 125T>G STAD-US 3 52437539 52437539 single base substitution A C missense_variant V523G 1568T>G STAD-US 3 52437539 52437539 single base substitution A C missense_variant V541G 1622T>G STAD-US 3 52439202 52439220 deletion of <=200bp TGAACCCCATTGAGGCTGC - downstream_gene_variant STAD-US 3 52439202 52439220 deletion of <=200bp TGAACCCCATTGAGGCTGC - exon_variant STAD-US 3 52439202 52439220 deletion of <=200bp TGAACCCCATTGAGGCTGC - frameshift_variant SSLNGVH323 STAD-US 3 52439202 52439220 deletion of <=200bp TGAACCCCATTGAGGCTGC - frameshift_variant SSLNGVH341 STAD-US 3 52439202 52439220 deletion of <=200bp TGAACCCCATTGAGGCTGC - upstream_gene_variant STAD-US 3 52439911 52439911 single base substitution C T downstream_gene_variant STAD-US 3 52439911 52439911 single base substitution C T exon_variant STAD-US 3 52439911 52439911 single base substitution C T synonymous_variant Q249Q 747G>A STAD-US 3 52439911 52439911 single base substitution C T synonymous_variant Q267Q 801G>A STAD-US 3 52439911 52439911 single base substitution C T upstream_gene_variant STAD-US 3 52440318 52440318 single base substitution A G downstream_gene_variant STAD-US 3 52440318 52440318 single base substitution A G exon_variant STAD-US 3 52440318 52440318 single base substitution A G missense_variant L227P 680T>C STAD-US 3 52440318 52440318 single base substitution A G missense_variant L245P 734T>C STAD-US 3 52440318 52440318 single base substitution A G upstream_gene_variant STAD-US 3 52440912 52440912 deletion of <=200bp C - downstream_gene_variant STAD-US 3 52440912 52440912 deletion of <=200bp C - exon_variant STAD-US 3 52440912 52440912 deletion of <=200bp C - frameshift_variant E198 STAD-US 3 52440912 52440912 deletion of <=200bp C - upstream_gene_variant STAD-US 3 52441201 52441201 single base substitution G T 3_prime_UTR_variant STAD-US 3 52441201 52441201 single base substitution G T exon_variant STAD-US 3 52441201 52441201 single base substitution G T intron_variant STAD-US 3 52441201 52441201 single base substitution G T missense_variant P111H 332C>A STAD-US 3 52441201 52441201 single base substitution G T missense_variant P190H 569C>A STAD-US 3 52441201 52441201 single base substitution G T upstream_gene_variant STAD-US 3 52441246 52441246 single base substitution G T 3_prime_UTR_variant STAD-US 3 52441246 52441246 single base substitution G T exon_variant STAD-US 3 52441246 52441246 single base substitution G T intron_variant STAD-US 3 52441246 52441246 single base substitution G T missense_variant P175H 524C>A STAD-US 3 52441246 52441246 single base substitution G T missense_variant P96H 287C>A STAD-US 3 52441246 52441246 single base substitution G T upstream_gene_variant STAD-US 3 52441282 52441282 single base substitution C T 3_prime_UTR_variant STAD-US 3 52441282 52441282 single base substitution C T exon_variant STAD-US 3 52441282 52441282 single base substitution C T intron_variant STAD-US 3 52441282 52441282 single base substitution C T missense_variant R163Q 488G>A STAD-US 3 52441282 52441282 single base substitution C T missense_variant R84Q 251G>A STAD-US 3 52441282 52441282 single base substitution C T upstream_gene_variant STAD-US 3 52442054 52442054 single base substitution C T 3_prime_UTR_variant STAD-US 3 52442054 52442054 single base substitution C T exon_variant STAD-US 3 52442054 52442054 single base substitution C T missense_variant V20M 58G>A STAD-US 3 52442054 52442054 single base substitution C T missense_variant V99M 295G>A STAD-US 3 52442054 52442054 single base substitution C T upstream_gene_variant STAD-US 3 52443593 52443593 single base substitution G T 5_prime_UTR_variant STAD-US 3 52443593 52443593 single base substitution G T exon_variant STAD-US 3 52443593 52443593 single base substitution G T stop_gained Y33* 99C>A STAD-US 3 52443593 52443593 single base substitution G T upstream_gene_variant STAD-US 3 52443885 52443885 single base substitution C A exon_variant STAD-US 3 52443885 52443885 single base substitution C A missense_variant G4C 10G>T STAD-US 3 52443885 52443885 single base substitution C A upstream_gene_variant STAD-US 3 52443937 52443937 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant STAD-US 3 52443937 52443937 single base substitution C A upstream_gene_variant THCA-US 3 52433173 52433173 single base substitution C A downstream_gene_variant THCA-US 3 52443600 52443600 single base substitution T C 5_prime_UTR_variant THCA-US 3 52443600 52443600 single base substitution T C exon_variant THCA-US 3 52443600 52443600 single base substitution T C missense_variant E31G 92A>G THCA-US 3 52443600 52443600 single base substitution T C upstream_gene_variant UCEC-US 3 52431865 52431865 single base substitution C A downstream_gene_variant UCEC-US 3 52432119 52432119 single base substitution C A downstream_gene_variant UCEC-US 3 52432906 52432906 single base substitution G T downstream_gene_variant UCEC-US 3 52436395 52436395 single base substitution C T downstream_gene_variant UCEC-US 3 52436395 52436395 single base substitution C T exon_variant UCEC-US 3 52436395 52436395 single base substitution C T missense_variant R224Q 671G>A UCEC-US 3 52436395 52436395 single base substitution C T missense_variant R682Q 2045G>A UCEC-US 3 52436395 52436395 single base substitution C T missense_variant R700Q 2099G>A UCEC-US 3 52436395 52436395 single base substitution C T missense_variant R99Q 296G>A UCEC-US 3 52436618 52436618 single base substitution C A downstream_gene_variant UCEC-US 3 52436618 52436618 single base substitution C A missense_variant G210C 628G>T UCEC-US 3 52436618 52436618 single base substitution C A missense_variant G668C 2002G>T UCEC-US 3 52436618 52436618 single base substitution C A missense_variant G686C 2056G>T UCEC-US 3 52436618 52436618 single base substitution C A missense_variant G85C 253G>T UCEC-US 3 52436618 52436618 single base substitution C A splice_region_variant UCEC-US 3 52436834 52436834 single base substitution C T downstream_gene_variant UCEC-US 3 52436834 52436834 single base substitution C T exon_variant UCEC-US 3 52436834 52436834 single base substitution C T synonymous_variant A172A 516G>A UCEC-US 3 52436834 52436834 single base substitution C T synonymous_variant A47A 141G>A UCEC-US 3 52436834 52436834 single base substitution C T synonymous_variant A630A 1890G>A UCEC-US 3 52436834 52436834 single base substitution C T synonymous_variant A648A 1944G>A UCEC-US 3 52437188 52437188 single base substitution C T downstream_gene_variant UCEC-US 3 52437188 52437188 single base substitution C T exon_variant UCEC-US 3 52437188 52437188 single base substitution C T intron_variant UCEC-US 3 52437188 52437188 single base substitution C T missense_variant G120D 359G>A UCEC-US 3 52437188 52437188 single base substitution C T missense_variant G601D 1802G>A UCEC-US 3 52437188 52437188 single base substitution C T missense_variant G619D 1856G>A UCEC-US 3 52437235 52437235 single base substitution G A downstream_gene_variant UCEC-US 3 52437235 52437235 single base substitution G A exon_variant UCEC-US 3 52437235 52437235 single base substitution G A intron_variant UCEC-US 3 52437235 52437235 single base substitution G A synonymous_variant V104V 312C>T UCEC-US 3 52437235 52437235 single base substitution G A synonymous_variant V585V 1755C>T UCEC-US 3 52437235 52437235 single base substitution G A synonymous_variant V603V 1809C>T UCEC-US 3 52437519 52437519 single base substitution G A downstream_gene_variant UCEC-US 3 52437519 52437519 single base substitution G A exon_variant UCEC-US 3 52437519 52437519 single base substitution G A intron_variant UCEC-US 3 52437519 52437519 single base substitution G A missense_variant R49C 145C>T UCEC-US 3 52437519 52437519 single base substitution G A missense_variant R530C 1588C>T UCEC-US 3 52437519 52437519 single base substitution G A missense_variant R548C 1642C>T UCEC-US 3 52437675 52437675 single base substitution C T downstream_gene_variant UCEC-US 3 52437675 52437675 single base substitution C T intron_variant UCEC-US 3 52437675 52437675 single base substitution C T missense_variant A478T 1432G>A UCEC-US 3 52437675 52437675 single base substitution C T missense_variant A496T 1486G>A UCEC-US 3 52437675 52437675 single base substitution C T upstream_gene_variant UCEC-US 3 52437677 52437677 single base substitution G A downstream_gene_variant UCEC-US 3 52437677 52437677 single base substitution G A intron_variant UCEC-US 3 52437677 52437677 single base substitution G A missense_variant T477M 1430C>T UCEC-US 3 52437677 52437677 single base substitution G A missense_variant T495M 1484C>T UCEC-US 3 52437677 52437677 single base substitution G A upstream_gene_variant UCEC-US 3 52438493 52438493 single base substitution A G 5_prime_UTR_variant UCEC-US 3 52438493 52438493 single base substitution A G downstream_gene_variant UCEC-US 3 52438493 52438493 single base substitution A G exon_variant UCEC-US 3 52438493 52438493 single base substitution A G missense_variant V391A 1172T>C UCEC-US 3 52438493 52438493 single base substitution A G missense_variant V409A 1226T>C UCEC-US 3 52438493 52438493 single base substitution A G upstream_gene_variant UCEC-US 3 52438524 52438524 single base substitution C T downstream_gene_variant UCEC-US 3 52438524 52438524 single base substitution C T exon_variant UCEC-US 3 52438524 52438524 single base substitution C T missense_variant D381N 1141G>A UCEC-US 3 52438524 52438524 single base substitution C T missense_variant D399N 1195G>A UCEC-US 3 52438524 52438524 single base substitution C T upstream_gene_variant UCEC-US 3 52439173 52439173 single base substitution G T downstream_gene_variant UCEC-US 3 52439173 52439173 single base substitution G T exon_variant UCEC-US 3 52439173 52439173 single base substitution G T missense_variant L339M 1015C>A UCEC-US 3 52439173 52439173 single base substitution G T missense_variant L357M 1069C>A UCEC-US 3 52439173 52439173 single base substitution G T upstream_gene_variant UCEC-US 3 52440873 52440873 single base substitution T C downstream_gene_variant UCEC-US 3 52440873 52440873 single base substitution T C exon_variant UCEC-US 3 52440873 52440873 single base substitution T C missense_variant M211V 631A>G UCEC-US 3 52440873 52440873 single base substitution T C upstream_gene_variant UCEC-US 3 52442616 52442616 single base substitution T C 5_prime_UTR_variant UCEC-US 3 52442616 52442616 single base substitution T C exon_variant UCEC-US 3 52442616 52442616 single base substitution T C intron_variant UCEC-US 3 52442616 52442616 single base substitution T C synonymous_variant V43V 129A>G UCEC-US 3 52442616 52442616 single base substitution T C upstream_gene_variant UCEC-US 3 52443599 52443599 single base substitution C A 5_prime_UTR_variant UCEC-US 3 52443599 52443599 single base substitution C A exon_variant UCEC-US 3 52443599 52443599 single base substitution C A missense_variant E31D 93G>T UCEC-US 3 52443599 52443599 single base substitution C A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSCC-38-T COSM4533187 c.1954G>A p.E652K Substitution - Missense 3:52402808-52402808 - 1522643 COSM96351 c.512_512delT p.V171fs*16 Deletion - Frameshift 3:52407242-52407242 - K265 COSM249341 c.512T>A p.V171D Substitution - Missense 3:52407242-52407242 - TCGA-CJ-4882-01 COSM480293 c.92A>C p.E31A Substitution - Missense 3:52409584-52409584 - 1807363 COSM51991 c.516C>G p.S172R Substitution - Missense 3:52407238-52407238 - 1556523 COSM110726 c.58G>T p.E20* Substitution - Nonsense 3:52409723-52409723 - 1556537 COSM110735 c.1379C>G p.S460* Substitution - Nonsense 3:52403766-52403766 - CSCC-4-T COSM4566725 c.456_457CC>TT p.P153S Substitution - Missense 3:52407297-52407298 - 2265162 COSM4387454 c.438-2A>G p.? Unknown 3:52407318-52407318 - ESCC_45 COSM422743 c.2134C>T p.Q712* Substitution - Nonsense 3:52402344-52402344 - CHC794T COSM4949532 c.92delA p.E31fs*41 Deletion - Frameshift 3:52409584-52409584 - 1522695 COSM96362 c.188C>G p.S63C Substitution - Missense 3:52408541-52408541 - 2485334 COSM5702534 c.1256_1269del14 p.K419fs*11 Deletion - Frameshift 3:52403876-52403889 - MM34-P COSM110818 c.1_2190del2190 p.0? Whole gene deletion 2UM COSM48859 c.1153C>T p.R385* Substitution - Nonsense 3:52404550-52404550 - FS115 COSM5611425 c.504_510delCCACTTT p.F168fs*17 Deletion - Frameshift 3:52407244-52407250 - TCGA-EE-A2A2-06 COSM3596041 c.88G>A p.E30K Substitution - Missense 3:52409588-52409588 - MPM_60 COSM1717423 c.? p.? Unknown 2485299 COSM1666806 c.518A>G p.Y173C Substitution - Missense 3:52407236-52407236 - HCC107T COSM1617861 c.2137C>T p.R713W Substitution - Missense 3:52402341-52402341 - TCGA-BR-8361-01 COSM4119066 c.295G>A p.V99M Substitution - Missense 3:52408038-52408038 - KYSE50 COSM2853478 c.1120_1126delGAAGAAG p.E374fs*54 Deletion - Frameshift 3:52404577-52404583 - NCI-H28 COSM307186 c.438-19_441del23 p.? Unknown 3:52407313-52407335 - 2485316 COSM5702524 c.161_167delAAGAGCG p.E54fs*16 Deletion - Frameshift 3:52408562-52408568 - Z16 COSM1169485 c.29G>A p.S10N Substitution - Missense 3:52409850-52409850 - TCGA-A5-A0GA-01 COSM1046988 c.1856G>A p.G619D Substitution - Missense 3:52403172-52403172 - 356 COSM480297 c.3G>A p.M1I Substitution - Missense 3:52409876-52409876 - TCGA-AZ-6599-01 COSM1424462 c.814C>T p.Q272* Substitution - Nonsense 3:52405882-52405882 - TCGA-BP-5174-01 COSM3358466 c.2097delG p.R700fs*>30 Deletion - Frameshift 3:52402381-52402381 - FS99 COSM5611463 c.1934delA p.N645fs*10 Deletion - Frameshift 3:52402828-52402828 - CHOL04 COSM1744862 c.348_350delGGA p.K116_D117>N Complex - deletion inframe 3:52407983-52407985 - PD8621a COSM5789313 c.755G>C p.R252P Substitution - Missense 3:52406281-52406281 - 1517_PT COSM5756316 c.1036delG p.V346fs*16 Deletion - Frameshift 3:52405190-52405190 - TCGA-BP-4337-01 COSM110721 c.178C>T p.R60* Substitution - Nonsense 3:52408551-52408551 - NYU460 COSM4770768 c.790delA p.R264fs*2 Deletion - Frameshift 3:52405906-52405906 - RK26-R8 COSM480298 c.1A>G p.M1V Substitution - Missense 3:52409878-52409878 - RMH008-R6 COSM4411449 c.829C>T p.Q277* Substitution - Nonsense 3:52405867-52405867 - 2485300 COSM5490541 c.438-1G>T p.? Unknown 3:52407317-52407317 - LS411 COSM2853464 c.1518A>G p.P506P Substitution - coding silent 3:52403627-52403627 - NYU647 COSM159327 c.838C>T p.Q280* Substitution - Nonsense 3:52405858-52405858 - YULOCUS COSM5399742 c.1571_1572CC>TT p.T524I Substitution - Missense 3:52403573-52403574 - 1995687 COSM1666864 c.? p.P510fs*61 Unknown 2265188 COSM1716583 c.2057-?_2190+?del p.? Unknown TCGA-FJ-A3Z7-01 COSM3775230 c.1891G>C p.E631Q Substitution - Missense 3:52402871-52402871 - TCGA-B0-5699-01 COSM3358465 c.2132delA p.K711fs*>19 Deletion - Frameshift 3:52402346-52402346 - 1966482 COSM1651692 c.? p.? Unknown TCGA-CJ-4873-01 COSM3365365 c.326G>T p.G109V Substitution - Missense 3:52408007-52408007 - 2485308 COSM5702520 c.1518_1522delACTGC p.R508fs*27 Deletion - Frameshift 3:52403623-52403627 - SP-015 COSM110803 c.1497_1497delC p.I499fs*72 Deletion - Frameshift 3:52403648-52403648 - TCGA-CZ-4866-01 COSM3365364 c.434C>G p.A145G Substitution - Missense 3:52407402-52407402 - MPCC_0037_Pa_C COSM3380646 c.207G>A p.T69T Substitution - coding silent 3:52408522-52408522 - 2164851 COSM3736953 c.2057-2delA p.? Unknown 3:52402423-52402423 - 1346 COSM1644424 c.907G>C p.A303P Substitution - Missense 3:52405789-52405789 - DLD1 COSM1670246 c.1550C>T p.T517M Substitution - Missense 3:52403595-52403595 - C086 COSM5527250 c.646C>T p.L216F Substitution - Missense 3:52406842-52406842 - 1459164 COSM51976 c.507C>G p.H169Q Substitution - Missense 3:52407247-52407247 - PD4203a COSM159326 c.673G>A p.D225N Substitution - Missense 3:52406363-52406363 - TCGA-B0-5097-01 COSM243166 c.508T>G p.F170V Substitution - Missense 3:52407246-52407246 - 9113_T COSM5038629 c.1060_1061delGT p.V354fs*43 Deletion - Frameshift 3:52405165-52405166 - UMRC6 COSM405320 c.430delC p.H144fs*43 Deletion - Frameshift 3:52407406-52407406 - CHOL09 COSM1742840 c.37+1G>A p.? Unknown 3:52409841-52409841 - 402 COSM1169488 c.1787_1806del20 p.S597fs*39 Deletion - Frameshift 3:52403222-52403241 - 2485302 COSM5702536 c.1984-?_2056+?del p.? Unknown 3:52402602-52402674 - ESO-1872 COSM1245946 c.709C>T p.R237C Substitution - Missense 3:52406327-52406327 - 1522642 COSM96350 c.323_324delTG p.L108fs*17 Deletion - Frameshift 3:52408009-52408010 - 2265187 COSM51981 c.2015A>G p.D672G Substitution - Missense 3:52402643-52402643 - PD4133a COSM159327 c.838C>T p.Q280* Substitution - Nonsense 3:52405858-52405858 - TCGA-A2-A0YE-01 COSM3824312 c.134G>A p.G45E Substitution - Missense 3:52408595-52408595 - K44 COSM249184 c.1358_1359delAA p.K453fs*15 Deletion - Frameshift 3:52403786-52403787 - 2485323 COSM5702529 c.261_270del10 p.P88fs*7 Deletion - Frameshift 3:52408063-52408072 - T16 COSM422736 c.128T>G p.V43G Substitution - Missense 3:52408601-52408601 - TCGA-B0-5092-01 COSM51978 c.757C>T p.Q253* Substitution - Nonsense 3:52406279-52406279 - U5 COSM5025144 c.1997_1997delG p.R666fs*26 Deletion - Frameshift 3:52402661-52402661 - HCC107 COSM1617861 c.2137C>T p.R713W Substitution - Missense 3:52402341-52402341 - 2265181 COSM4387442 c.1729G>C p.E577Q Substitution - Missense 3:52403416-52403416 - 2368141 COSM5006576 c.?_?ins? p.?fs*? Insertion - Frameshift T163 COSM307729 c.2028_2046del19 p.C676fs*10 Deletion - Frameshift 3:52402612-52402630 - LS174T COSM4646094 c.527T>C p.I176T Substitution - Missense 3:52407227-52407227 - BD8T COSM5499572 c.1604delA p.D535fs*36 Deletion - Frameshift 3:52403541-52403541 - 2265136 COSM4387449 c.37+1_37+7delGTGAGGA p.? Unknown 3:52409835-52409841 - MPM_49 COSM1716586 c.1117-?_1250+?del p.? Unknown TCGA-BQ-5875-01 COSM3993218 c.580G>A p.G194R Substitution - Missense 3:52407174-52407174 - TCGA-B0-5095-01 COSM110735 c.1379C>G p.S460* Substitution - Nonsense 3:52403766-52403766 - L-III-18 COSM110818 c.1_2190del2190 p.0? Whole gene deletion 2505196 COSM5760544 c.? p.Q393? Unknown 9575 COSM422742 c.1981A>T p.K661* Substitution - Nonsense 3:52402781-52402781 - 1556531 COSM110734 c.139A>T p.I47F Substitution - Missense 3:52408590-52408590 - 2492703 COSM5599122 c.819C>T p.T273T Substitution - coding silent 3:52405877-52405877 - 1556823 COSM110739 c.1145_1146insG p.R383fs*15 Insertion - Frameshift 3:52404557-52404558 - 2485329 COSM5702538 c.438-?_580+?del? p.? Unknown 3:52407174-52407316 - RMH002-R6 COSM4411165 c.1411_1412insC p.G472fs*20 Insertion - Frameshift 3:52403733-52403734 - P03-1906 COSM243166 c.508T>G p.F170V Substitution - Missense 3:52407246-52407246 - 1N52-VS-1T52 COSM4984799 c.561_562insTGAA p.V188fs*1 Insertion - Frameshift 3:52407192-52407193 - 6UM COSM5945963 c.1939G>C p.E647Q Substitution - Missense 3:52402823-52402823 - 2485321 COSM5702527 c.346_346delA p.K116fs*71 Deletion - Frameshift 3:52407987-52407987 - TCGA-CZ-4866-01 COSM96367 c.122+2T>A p.? Unknown 3:52409552-52409552 - 2406615 COSM96358 c.2050C>T p.Q684* Substitution - Nonsense 3:52402608-52402608 - I2L-P14b-Tumor-Biopsy COSM5355154 c.1742G>A p.G581D Substitution - Missense 3:52403286-52403286 - TCGA-BR-8680-01 COSM4119065 c.488G>A p.R163Q Substitution - Missense 3:52407266-52407266 - RKO COSM2853454 c.1821G>A p.T607T Substitution - coding silent 3:52403207-52403207 - 2164858 COSM3736947 c.155G>A p.W52* Substitution - Nonsense 3:52408574-52408574 - 2083223 COSM1737975 c.? p.H193Q Substitution - Missense MPM_05 COSM1716569 c.784-?_1890+?del p.? Unknown MPM_43 COSM1716584 c.660-?_783+?del p.? Unknown 2265177 COSM48859 c.1153C>T p.R385* Substitution - Nonsense 3:52404550-52404550 - SC_9047 COSM5559562 c.1286T>G p.L429W Substitution - Missense 3:52403859-52403859 - 2499259 COSM5757613 c.? p.K286fs*? Frameshift 1459150 COSM51979 c.845_853del9 p.E283_S285del Deletion - In frame 3:52405843-52405851 - 2265183 COSM4387443 c.1882_1885delTCAC p.S628fs*8 Deletion - Frameshift 3:52403143-52403146 - T578 COSM4665179 c.449G>A p.R150H Substitution - Missense 3:52407305-52407305 - FS86 COSM5611434 c.40delC p.L14fs*58 Deletion - Frameshift 3:52409741-52409741 - 2542205 COSM110818 c.1_2190del2190 p.0? Whole gene deletion FS67 COSM1753302 c.505C>T p.H169Y Substitution - Missense 3:52407249-52407249 - CHC1489T COSM3669208 c.1357A>T p.K453* Substitution - Nonsense 3:52403788-52403788 - 2265147 COSM4387425 c.151_215del65 p.K51fs*1 Deletion - Frameshift 3:52408514-52408578 - FS99 COSM5611464 c.133G>C p.G45R Substitution - Missense 3:52408596-52408596 - RK083_C01 COSM1633249 c.788_789insT p.R264fs*20 Insertion - Frameshift 3:52405907-52405908 - FS75 COSM5611455 c.956C>G p.S319* Substitution - Nonsense 3:52405270-52405270 - 2265134 COSM480297 c.3G>A p.M1I Substitution - Missense 3:52409876-52409876 - TCGA-BP-4163-01 COSM480287 c.836C>A p.S279* Substitution - Nonsense 3:52405860-52405860 - ESO-721 COSM1245948 c.368G>C p.S123T Substitution - Missense 3:52407965-52407965 - TCGA-60-2708-01 COSM731110 c.51G>T p.L17L Substitution - coding silent 3:52409730-52409730 - CCK81 COSM2853483 c.920G>A p.G307D Substitution - Missense 3:52405776-52405776 - 2265141 COSM4387421 c.82C>T p.Q28* Substitution - Nonsense 3:52409594-52409594 - TCGA-DD-A73G-01 COSM51976 c.507C>G p.H169Q Substitution - Missense 3:52407247-52407247 - ACINAR26 COSM1734830 c.34C>A p.P12T Substitution - Missense 3:52409845-52409845 - BD169T COSM5506096 c.233delA p.N78fs*9 Deletion - Frameshift 3:52408496-52408496 - HCC004T COSM5803335 c.2082G>C p.Q694H Substitution - Missense 3:52402396-52402396 - TCGA-CJ-5680-01 COSM3358470 c.222delT p.D74fs*4 Deletion - Frameshift 3:52408507-52408507 - 1556522 COSM110725 c.219_219delT p.D73fs*5 Deletion - Frameshift 3:52408510-52408510 - FS55 COSM5611425 c.504_510delCCACTTT p.F168fs*17 Deletion - Frameshift 3:52407244-52407250 - 1882622 COSM1235381 c.862_920del59 p.A288fs*90 Deletion - Frameshift 3:52405776-52405834 - 6UM COSM5945960 c.628_629delAT p.I210fs*32 Deletion - Frameshift 3:52406859-52406860 - 2215764 COSM4169302 c.? p.I87fs*71 Unknown SP-001 COSM110804 c.1023_1023delC p.S341fs*21 Deletion - Frameshift 3:52405203-52405203 - CRC-02T COSM5455216 c.1213G>A p.E405K Substitution - Missense 3:52404490-52404490 - 2542173 COSM5945797 c.? p.R512fs*59 Frameshift 2265139 COSM480294 c.67+1G>A p.? Unknown 3:52409713-52409713 - 2265163 COSM4387433 c.458_459delCT p.P153fs*7 Deletion - Frameshift 3:52407295-52407296 - ESCC_76 COSM5635199 c.1196_1197insG p.D399fs*2 Insertion - Frameshift 3:52404506-52404507 - FS39 COSM5611444 c.855_856insC p.K286fs*21 Insertion - Frameshift 3:52405840-52405841 - MPM_35 COSM1716583 c.2057-?_2190+?del p.? Unknown 2505195 COSM5760544 c.? p.Q393? Unknown YUVAN COSM1685924 c.455_456delTC p.L152fs*2 Deletion - Frameshift 3:52407298-52407299 - BCM375T COSM4951024 c.101A>C p.D34A Substitution - Missense 3:52409575-52409575 - SP-015 COSM110802 c.700_700delG p.V234fs*15 Deletion - Frameshift 3:52406336-52406336 - ESO-2143 COSM1245947 c.1762C>A p.P588T Substitution - Missense 3:52403266-52403266 - YUNEKI COSM5399741 c.1798G>A p.E600K Substitution - Missense 3:52403230-52403230 - MPM_35 COSM1716582 c.38-?_1983+?del p.? Unknown TCGA-BQ-5892-01 COSM1169485 c.29G>A p.S10N Substitution - Missense 3:52409850-52409850 - Padua026 COSM5095522 c.2071C>G p.L691V Substitution - Missense 3:52402407-52402407 - 1807357 COSM1155726 c.459_459delT p.E154fs*33 Deletion - Frameshift 3:52407295-52407295 - 2164849 COSM3736949 c.510_511insT p.V171fs*12 Insertion - Frameshift 3:52407243-52407244 - T3182 COSM4665177 c.1497C>T p.I499I Substitution - coding silent 3:52403648-52403648 - 2368111 COSM5006575 c.? p.R699Q Substitution - Missense BD224T COSM5508600 c.438-5C>T p.? Unknown 3:52407321-52407321 - RMH008-R2 COSM4411436 c.1231_1232insGA p.N411fs*20 Insertion - Frameshift 3:52404471-52404472 - 1459169 COSM51988 c.273T>G p.C91W Substitution - Missense 3:52408060-52408060 - 2265145 COSM4387423 c.133G>A p.G45R Substitution - Missense 3:52408596-52408596 - 1459148 COSM51977 c.588G>A p.W196* Substitution - Nonsense 3:52406900-52406900 - 1556461 COSM110819 c.999_1050del52 p.V335fs*10 Deletion - Frameshift 3:52405176-52405227 - 2368139 COSM5006576 c.?_?ins? p.?fs*? Insertion - Frameshift EV007-R1 COSM4410937 c.553G>A p.G185R Substitution - Missense 3:52407201-52407201 - MPM_08 COSM1716568 c.581-?_659+?del p.? Unknown 3:52406829-52406907 - ICC19 COSM1717434 c.68-2A>G p.? Unknown 3:52409610-52409610 - 2485322 COSM5702528 c.1184C>A p.S395* Substitution - Nonsense 3:52404519-52404519 - T212 COSM422740 c.510T>A p.F170L Substitution - Missense 3:52407244-52407244 - 769-P COSM405319 c.97T>G p.Y33D Substitution - Missense 3:52409579-52409579 - ATL053 COSM5708825 c.1251-1G>A p.? Unknown 3:52403895-52403895 - TCGA-CZ-5469-01 COSM480289 c.509T>G p.F170C Substitution - Missense 3:52407245-52407245 - MPM_05 COSM1716568 c.581-?_659+?del p.? Unknown 3:52406829-52406907 - 1522651 COSM96358 c.2050C>T p.Q684* Substitution - Nonsense 3:52402608-52402608 - BK0006 COSM4185565 c.13T>A p.W5R Substitution - Missense 3:52409866-52409866 - 1459166 COSM51987 c.1997_2005del9 p.R666_H669>N Complex - deletion inframe 3:52402653-52402661 - E12 COSM1666500 c.915_916insTG p.E306fs*30 Insertion - Frameshift 3:52405780-52405781 - U4 COSM5025143 c.1993C>T p.Q665* Substitution - Nonsense 3:52402665-52402665 - Pat_26_A COSM1046992 c.1484C>T p.T495M Substitution - Missense 3:52403661-52403661 - 2265185 COSM4387445 c.1932_1948del17 p.N645fs*13 Deletion - Frameshift 3:52402814-52402830 - T145 COSM422735 c.38G>T p.G13V Substitution - Missense 3:52409743-52409743 - K196 COSM249460 c.71T>A p.V24D Substitution - Missense 3:52409605-52409605 - TCGA-AP-A0LP-01 COSM1046985 c.2099G>A p.R700Q Substitution - Missense 3:52402379-52402379 - MPM_65 COSM1716567 c.1965_1966delGA p.K656fs*7 Deletion - Frameshift 3:52402796-52402797 - 2265156 COSM4387429 c.290T>A p.L97Q Substitution - Missense 3:52408043-52408043 - 2542188 COSM5945802 c.? p.S63C Substitution - Missense 1522644 COSM96360 c.784-2A>C p.? Unknown 3:52405914-52405914 - MM14-T COSM110818 c.1_2190del2190 p.0? Whole gene deletion 8064157 COSM3392494 c.1526C>A p.S509* Substitution - Nonsense 3:52403619-52403619 - DM8 COSM5607929 c.1817C>A p.A606D Substitution - Missense 3:52403211-52403211 - K340 COSM249384 c.1259_1260insTAGGG p.K421fs*11 Insertion - Frameshift 3:52403885-52403886 - 2164854 COSM3736952 c.2023_2024insATA p.F674_I675insN Insertion - In frame 3:52402634-52402635 - sysucc-1370T COSM5471776 c.1890+10C>T p.? Unknown 3:52403128-52403128 - LP6007546-DNA_A01 COSM5952470 c.1421C>T p.P474L Substitution - Missense 3:52403724-52403724 - BD114T COSM5502718 c.1345G>A p.A449T Substitution - Missense 3:52403800-52403800 - MPM_17 COSM1716578 c.38-?_255+?del p.? Unknown 2485305 COSM110818 c.1_2190del2190 p.0? Whole gene deletion HCC49T COSM1617863 c.1251-7C>A p.? Unknown 3:52403901-52403901 - 2_FL COSM4171255 c.1116G>T p.Q372H Substitution - Missense 3:52405110-52405110 - CHOL37 COSM51976 c.507C>G p.H169Q Substitution - Missense 3:52407247-52407247 - CLL033 COSM1291739 c.1031A>G p.N344S Substitution - Missense 3:52405195-52405195 - 2542208 COSM110818 c.1_2190del2190 p.0? Whole gene deletion 1459159 COSM52916 c.38-25_47del35 p.? Unknown 3:52409734-52409768 - TCGA-FP-A4BE-01 COSM1046985 c.2099G>A p.R700Q Substitution - Missense 3:52402379-52402379 - 2542179 COSM5945799 c.? p.R610fs*7 Frameshift PT06_2 COSM5880104 c.? p.E374K Substitution - Missense 2542180 COSM110818 c.1_2190del2190 p.0? Whole gene deletion C086 COSM5527251 c.1107C>T p.S369S Substitution - coding silent 3:52405119-52405119 - 2521212 COSM5880081 c.? p.D663fs*? Frameshift 40 COSM422743 c.2134C>T p.Q712* Substitution - Nonsense 3:52402344-52402344 - LC_C13 COSM1186312 c.1168C>A p.P390T Substitution - Missense 3:52404535-52404535 - 1522648 COSM96355 c.1794_1797delAGTG p.V599fs*17 Deletion - Frameshift 3:52403231-52403234 - 1556531 COSM110733 c.172_179delTCCCGGCG p.S58fs*8 Deletion - Frameshift 3:52408550-52408557 - ccRCC-30 COSM1660728 c.271T>G p.C91G Substitution - Missense 3:52408062-52408062 - TCGA-AC-A62X-01 COSM5834715 c.639_640insT p.I214fs*29 Insertion - Frameshift 3:52406848-52406849 - TCGA-CD-8536-01 COSM4119063 c.569C>A p.P190H Substitution - Missense 3:52407185-52407185 - BD6T COSM5490577 c.211G>A p.V71M Substitution - Missense 3:52408518-52408518 - 2083213 COSM1737974 c.? p.P42S Substitution - Missense 1459161 COSM51985 c.1714_1718delCCCCT p.P572fs*69 Deletion - Frameshift 3:52403427-52403431 - TCGA-AP-A059-01 COSM1046997 c.129A>G p.V43V Substitution - coding silent 3:52408600-52408600 - 2083196 COSM1737979 c.? p.? Unknown 2164856 COSM1235382 c.1717_1717delC p.L573fs*3 Deletion - Frameshift 3:52403428-52403428 - 12-P2194 COSM4584532 c.705C>T p.P235P Substitution - coding silent 3:52406331-52406331 - 2542209 COSM5945811 c.?_?del? p.? Unknown TCGA-B8-4143-01 COSM480282 c.1881C>G p.Y627* Substitution - Nonsense 3:52403147-52403147 - 2485335 COSM5702535 c.375G>C p.E125D Substitution - Missense 3:52407958-52407958 - 308 COSM1169484 c.239_239delT p.M80fs*7 Deletion - Frameshift 3:52408490-52408490 - FS34 COSM5611441 c.676_679delATCC p.I226fs*4 Deletion - Frameshift 3:52406357-52406360 - MPM_59 COSM1716591 c.1-?_122+?del p.? Unknown NPC29F COSM4976363 c.1730-1G>A p.? Unknown 3:52403299-52403299 - RK077_C01 COSM3767493 c.745A>G p.K249E Substitution - Missense 3:52406291-52406291 - MPM_57 COSM1716588 c.1891-?_2056+?del p.? Unknown 2265171 COSM4387436 c.723T>A p.Y241* Substitution - Nonsense 3:52406313-52406313 - SH-3327 COSM5019838 c.1235C>T p.T412I Substitution - Missense 3:52404468-52404468 - 2492702 COSM5599122 c.819C>T p.T273T Substitution - coding silent 3:52405877-52405877 - T115 COSM422738 c.430C>A p.H144N Substitution - Missense 3:52407406-52407406 - S09-31237-TP COSM4991930 c.103C>T p.L35F Substitution - Missense 3:52409573-52409573 - RMH008-R5 COSM4411453 c.1557delC p.S520fs*51 Deletion - Frameshift 3:52403588-52403588 - MPM_09 COSM1716571 c.1891-?_2190+?del p.? Unknown Gp2D COSM2853466 c.1445C>T p.S482L Substitution - Missense 3:52403700-52403700 - 17MT-CNS COSM110721 c.178C>T p.R60* Substitution - Nonsense 3:52408551-52408551 - 1522703 COSM96371 c.2057-4G>T p.? Unknown 3:52402425-52402425 - 384 COSM4426788 c.608_609delCA p.T203fs*39 Deletion - Frameshift 3:52406879-52406880 - 2543966 COSM5574320 c.117_122+6del12 p.? Unknown 3:52409554-52409559 - TCGA-EI-6507-01 COSM1566693 c.2149C>T p.R717W Substitution - Missense 3:52402329-52402329 - 1882621 COSM1235381 c.862_920del59 p.A288fs*90 Deletion - Frameshift 3:52405776-52405834 - FS118 COSM5611429 c.1052C>T p.T351I Substitution - Missense 3:52405174-52405174 - 403 COSM4429937 c.1161_1162insCA p.V388fs*43 Insertion - Frameshift 3:52404541-52404542 - 2542193 COSM110818 c.1_2190del2190 p.0? Whole gene deletion SA235 COSM212774 c.1574C>G p.S525C Substitution - Missense 3:52403571-52403571 - 2265158 COSM4387431 c.422A>G p.H141R Substitution - Missense 3:52407414-52407414 - I2L-P14b-Tumor-Organoid COSM5355154 c.1742G>A p.G581D Substitution - Missense 3:52403286-52403286 - TCGA-AP-A059-01 COSM1046986 c.2056G>T p.G686C Substitution - Missense 3:52402602-52402602 - HMMME COSM307187 c.449_467del19 p.H151fs*30 Deletion - Frameshift 3:52407287-52407305 - 121T COSM48859 c.1153C>T p.R385* Substitution - Nonsense 3:52404550-52404550 - DM55 COSM5607928 c.627C>T p.V209V Substitution - coding silent 3:52406861-52406861 - 1522701 COSM96365 c.1892_1901del10 p.E631fs*3 Deletion - Frameshift 3:52402861-52402870 - TCGA-B8-5551-01 COSM480294 c.67+1G>A p.? Unknown 3:52409713-52409713 - L4 COSM1732101 c.1306C>T p.Q436* Substitution - Nonsense 3:52403839-52403839 - TCGA-CZ-5452-01 COSM3358467 c.1220delA p.D407fs*23 Deletion - Frameshift 3:52404483-52404483 - 2368140 COSM5006576 c.?_?ins? p.?fs*? Insertion - Frameshift Padua026 COSM1716566 c.1538C>G p.S513* Substitution - Nonsense 3:52403607-52403607 - 1556529 COSM110731 c.993_993delA p.K331fs*4 Deletion - Frameshift 3:52405233-52405233 - 1556444 COSM110722 c.1768C>T p.Q590* Substitution - Nonsense 3:52403260-52403260 - 2204820 COSM3773386 c.? p.L65* Substitution - Nonsense TCGA-B5-A0JY-01 COSM1046989 c.1809C>T p.V603V Substitution - coding silent 3:52403219-52403219 - H2452 COSM96374 c.284C>A p.A95D Substitution - Missense 3:52408049-52408049 - CHEWS029 COSM4387421 c.82C>T p.Q28* Substitution - Nonsense 3:52409594-52409594 - 27 COSM1169481 c.2101C>T p.R701C Substitution - Missense 3:52402377-52402377 - TCGA-E2-A573-01 COSM3824311 c.277A>G p.T93A Substitution - Missense 3:52408056-52408056 - RMH008-R8 COSM4411453 c.1557delC p.S520fs*51 Deletion - Frameshift 3:52403588-52403588 - RMH008-R4 COSM4411453 c.1557delC p.S520fs*51 Deletion - Frameshift 3:52403588-52403588 - FS115 COSM5611426 c.504_511delCCACTTTG p.H169fs*11 Deletion - Frameshift 3:52407243-52407250 - MPM_47 COSM1716584 c.660-?_783+?del p.? Unknown E11 COSM1666564 c.1831_1834delGAGA p.E611fs*5 Deletion - Frameshift 3:52403194-52403197 - 2265153 COSM1732122 c.256-1G>A p.? Unknown 3:52408078-52408078 - 1807362 COSM1155727 c.920_921insG p.N308fs*90 Insertion - Frameshift 3:52405775-52405776 - 1882625 COSM1235382 c.1717_1717delC p.L573fs*3 Deletion - Frameshift 3:52403428-52403428 - C0061T COSM307730 c.283G>C p.A95P Substitution - Missense 3:52408050-52408050 - 3UM COSM5945959 c.1842_1842delG p.M615fs*2 Deletion - Frameshift 3:52403186-52403186 - CHC1010T COSM4954548 c.1908G>T p.L636L Substitution - coding silent 3:52402854-52402854 - NYU587 COSM4770792 c.255G>T p.Q85H Substitution - Missense 3:52408474-52408474 - 2542201 COSM5945810 c.1730-2A>G p.? Unknown 3:52403300-52403300 - 1990627 COSM1666806 c.518A>G p.Y173C Substitution - Missense 3:52407236-52407236 - TCGA-ER-A19P-06 COSM3596037 c.1250G>T p.R417M Substitution - Missense 3:52404453-52404453 - T55 COSM423031 c.458delC p.P153fs*34 Deletion - Frameshift 3:52407296-52407296 - MPM_07 COSM96362 c.188C>G p.S63C Substitution - Missense 3:52408541-52408541 - 1556462 COSM110723 c.278_281delCTCA p.T93fs*4 Deletion - Frameshift 3:52408052-52408055 - W2 COSM1732156 c.88G>T p.E30* Substitution - Nonsense 3:52409588-52409588 - SP-013 COSM110806 c.2047_2056+19del29 p.? Unknown 3:52402583-52402611 - 2485328 COSM5702537 c.438-?_2056+?del? p.? Unknown TCGA-CJ-4881-01 COSM446833 c.145C>G p.L49V Substitution - Missense 3:52408584-52408584 - 3885 COSM5043727 c.551A>T p.D184V Substitution - Missense 3:52407203-52407203 - TCGA-D3-A5GO-06 COSM3596036 c.1885C>T p.P629S Substitution - Missense 3:52403143-52403143 - ccRCC-55 COSM1659477 c.1252delT p.Y418fs*12 Deletion - Frameshift 3:52403893-52403893 - TCGA-ED-A4XI-01 COSM243166 c.508T>G p.F170V Substitution - Missense 3:52407246-52407246 - TCGA-AA-3712-01 COSM1424467 c.558G>A p.L186L Substitution - coding silent 3:52407196-52407196 - CPCG0241-F1 COSM4880708 c.1619G>A p.R540H Substitution - Missense 3:52403526-52403526 - EV007-R4 COSM4410937 c.553G>A p.G185R Substitution - Missense 3:52407201-52407201 - 2542194 COSM5945808 c.362_375+10del24 p.? Unknown 3:52407958-52407971 - 2265140 COSM4387447 c.68-16_69del18 p.? Unknown 3:52409607-52409608 - 2499284 COSM5757616 c.? p.I586fs*? Frameshift SH-3776 COSM5020058 c.1407C>T p.S469S Substitution - coding silent 3:52403738-52403738 - 1N24-VS-1T24 COSM4973298 c.1828A>T p.R610* Substitution - Nonsense 3:52403200-52403200 - 1459177 COSM51993 c.106C>T p.Q36* Substitution - Nonsense 3:52409570-52409570 - 1522699 COSM96363 c.602_602delA p.E201fs*30 Deletion - Frameshift 3:52406886-52406886 - TCGA-B5-A11E-01 COSM1046990 c.1642C>T p.R548C Substitution - Missense 3:52403503-52403503 - TCGA-EA-A44S-01 COSM4411449 c.829C>T p.Q277* Substitution - Nonsense 3:52405867-52405867 - 2542181 COSM110818 c.1_2190del2190 p.0? Whole gene deletion MM29-T COSM307185 c.700_702delGTG p.V234del Deletion - In frame 3:52406334-52406336 - 1459173 COSM52918 c.1984-1G>T p.? Unknown 3:52402675-52402675 - NCI-H2452 COSM96374 c.284C>A p.A95D Substitution - Missense 3:52408049-52408049 - FS115 COSM5611427 c.511_512insCCACTTTTG p.F170_V171insATF Insertion - In frame 3:52407242-52407243 - 2481858 COSM5656405 c.? p.E242* Substitution - Nonsense C0012T COSM52918 c.1984-1G>T p.? Unknown 3:52402675-52402675 - 250 COSM422735 c.38G>T p.G13V Substitution - Missense 3:52409743-52409743 - FS45 COSM5611446 c.371_375+15del20 p.? Unknown 3:52407943-52407962 - 1522645 COSM96352 c.1182C>G p.Y394* Substitution - Nonsense 3:52404521-52404521 - 1522641 COSM96359 c.256-13_256-1del p.? Unknown 3:52408078-52408090 - 2265157 COSM4387430 c.335T>G p.L112R Substitution - Missense 3:52407998-52407998 - MPM_09 COSM1716565 c.719_723delAGTAT p.K240fs*42 Deletion - Frameshift 3:52406313-52406317 - TCGA-13-0899-01 COSM77329 c.679C>T p.R227C Substitution - Missense 3:52406357-52406357 - TCGA-CJ-4637-01 COSM480290 c.233A>G p.N78S Substitution - Missense 3:52408496-52408496 - FS110 COSM5611422 c.1213G>T p.E405* Substitution - Nonsense 3:52404490-52404490 - B106-Tumor COSM1753302 c.505C>T p.H169Y Substitution - Missense 3:52407249-52407249 - 1556826 COSM110738 c.901G>A p.A301T Substitution - Missense 3:52405795-52405795 - MM57-P COSM307189 c.784_2190del1407 p.L262_*730del Deletion - In frame 2265164 COSM4387434 c.497_509del13 p.E166fs*17 Deletion - Frameshift 3:52407245-52407257 - Pat_15_B COSM5865001 c.1441C>T p.H481Y Substitution - Missense 3:52403704-52403704 - HCC49 COSM1617863 c.1251-7C>A p.? Unknown 3:52403901-52403901 - K304 COSM249401 c.851_858delAGTCCAAG p.E284fs*20 Deletion - Frameshift 3:52405838-52405845 - 6UM COSM5945962 c.1942_1944delGCG p.A648del Deletion - In frame 3:52402818-52402820 - 1882626 COSM1235382 c.1717_1717delC p.L573fs*3 Deletion - Frameshift 3:52403428-52403428 - B106-Tumor COSM1753301 c.692T>C p.M231T Substitution - Missense 3:52406344-52406344 - MPM_10 COSM1716572 c.1-?_255+?del p.? Unknown 1459152 COSM51981 c.2015A>G p.D672G Substitution - Missense 3:52402643-52402643 - RMH008-R6 COSM4411453 c.1557delC p.S520fs*51 Deletion - Frameshift 3:52403588-52403588 - 1459151 COSM51980 c.968_978del11 p.A323fs*71 Deletion - Frameshift 3:52405248-52405258 - YUPRO COSM1692814 c.1547C>T p.P516L Substitution - Missense 3:52403598-52403598 - 2492700 COSM5599122 c.819C>T p.T273T Substitution - coding silent 3:52405877-52405877 - GAY2911 COSM96373 c.170_170delG p.S58fs*14 Deletion - Frameshift 3:52408559-52408559 - 2265152 COSM4387428 c.254A>C p.Q85P Substitution - Missense 3:52408475-52408475 - 2265160 COSM4387454 c.438-2A>G p.? Unknown 3:52407318-52407318 - NPC22F COSM1753302 c.505C>T p.H169Y Substitution - Missense 3:52407249-52407249 - CHC1010T COSM4954548 c.1908G>T p.L636L Substitution - coding silent 3:52402854-52402854 - MPM_06 COSM1716570 c.38-?_2190+?del p.? Unknown T114 COSM423030 c.193delT p.L65fs*7 Deletion - Frameshift 3:52408536-52408536 - RK083_C01 COSM1633250 c.586T>G p.W196G Substitution - Missense 3:52406902-52406902 - BD28T COSM1666806 c.518A>G p.Y173C Substitution - Missense 3:52407236-52407236 - B106 COSM1753301 c.692T>C p.M231T Substitution - Missense 3:52406344-52406344 - ESCC_BICR_059T COSM5432479 c.932-2A>C p.? Unknown 3:52405296-52405296 - J9 COSM1732085 c.2073delA p.V692fs*>38 Deletion - Frameshift 3:52402405-52402405 - SH-4435 COSM5020138 c.1002A>G p.L334L Substitution - coding silent 3:52405224-52405224 - TCGA-DD-A118-01 COSM51978 c.757C>T p.Q253* Substitution - Nonsense 3:52406279-52406279 - EV007-R7 COSM4410937 c.553G>A p.G185R Substitution - Missense 3:52407201-52407201 - XHDG04 COSM4767419 c.489G>A p.R163R Substitution - coding silent 3:52407265-52407265 - 2485318 COSM4387456 c.659+1G>A p.? Unknown 3:52406828-52406828 - 2265170 COSM4387456 c.659+1G>A p.? Unknown 3:52406828-52406828 - T69 COSM422737 c.335T>C p.L112P Substitution - Missense 3:52407998-52407998 - TCGA-DD-A4NA-01 COSM1633250 c.586T>G p.W196G Substitution - Missense 3:52406902-52406902 - 2485306 COSM5702518 c.160_173del14 p.E54fs*10 Deletion - Frameshift 3:52408556-52408569 - Padua026 COSM5095516 c.1039C>T p.H347Y Substitution - Missense 3:52405187-52405187 - NPC3F COSM480290 c.233A>G p.N78S Substitution - Missense 3:52408496-52408496 - VGE COSM96375 c.354_354delC p.F118fs*69 Deletion - Frameshift 3:52407979-52407979 - TCGA-BR-8589-01 COSM4119060 c.1622T>G p.V541G Substitution - Missense 3:52403523-52403523 - U3 COSM51978 c.757C>T p.Q253* Substitution - Nonsense 3:52406279-52406279 - TCGA-13-0714-01 COSM77329 c.679C>T p.R227C Substitution - Missense 3:52406357-52406357 - 2265174 COSM4387438 c.1046_1046delA p.N349fs*13 Deletion - Frameshift 3:52405180-52405180 - TCGA-EM-A3O9-01 COSM3373259 c.92A>G p.E31G Substitution - Missense 3:52409584-52409584 - ccRCC-46 COSM1660727 c.689T>A p.L230Q Substitution - Missense 3:52406347-52406347 - 2265175 COSM4387439 c.1147C>T p.R383C Substitution - Missense 3:52404556-52404556 - BD49T COSM5490570 c.175C>T p.R59W Substitution - Missense 3:52408554-52408554 - 1882642 COSM1235383 c.790_790delA p.R264fs*2 Deletion - Frameshift 3:52405906-52405906 - TCGA-CJ-4636-01 COSM480292 c.122+2T>C p.? Unknown 3:52409552-52409552 - U9 COSM1732149 c.2110delG p.V704fs*>26 Deletion - Frameshift 3:52402368-52402368 - 1882624 COSM51991 c.516C>G p.S172R Substitution - Missense 3:52407238-52407238 - BD141T COSM5516932 c.91_93delGAG p.E31delE Deletion - In frame 3:52409583-52409585 - FS88 COSM5611460 c.1290_1299del10 p.S430fs*138 Deletion - Frameshift 3:52403846-52403855 - RMH002-R7 COSM4411165 c.1411_1412insC p.G472fs*20 Insertion - Frameshift 3:52403733-52403734 - EV007-R3 COSM4410937 c.553G>A p.G185R Substitution - Missense 3:52407201-52407201 - T26 COSM423035 c.1271_1274delGGAA p.K425fs*4 Deletion - Frameshift 3:52403871-52403874 - FS9 COSM5611461 c.256-1G>T p.? Unknown 3:52408078-52408078 - 1882623 COSM51991 c.516C>G p.S172R Substitution - Missense 3:52407238-52407238 - 2265135 COSM4387419 c.10_27del18 p.G4_E9del Deletion - In frame 3:52409852-52409869 - BD79T COSM5490691 c.544G>T p.E182* Substitution - Nonsense 3:52407210-52407210 - 2542195 COSM5945803 c.? p.N349fs*13 Frameshift 3575 COSM423261 c.6_7insAT p.K3fs*70 Insertion - Frameshift 3:52409872-52409873 - TCGA-HQ-A2OE-01 COSM1309339 c.1987G>C p.D663H Substitution - Missense 3:52402671-52402671 - 2164850 COSM480297 c.3G>A p.M1I Substitution - Missense 3:52409876-52409876 - 1459160 COSM51984 c.2188T>A p.*730? Nonstop extension 3:52402290-52402290 - 3397 COSM422739 c.438-1G>A p.? Unknown 3:52407317-52407317 - pfg145T COSM4755255 c.661G>T p.E221* Substitution - Nonsense 3:52406375-52406375 - FS55 COSM5611426 c.504_511delCCACTTTG p.H169fs*11 Deletion - Frameshift 3:52407243-52407250 - M6 COSM1732121 c.916G>T p.E306* Substitution - Nonsense 3:52405780-52405780 - SS6003314 COSM4091162 c.932-7G>T p.? Unknown 3:52405301-52405301 - 1459174 COSM51991 c.516C>G p.S172R Substitution - Missense 3:52407238-52407238 - BD199T COSM5517824 c.404delC p.P135fs*52 Deletion - Frameshift 3:52407432-52407432 - HCC1187 COSM50881 c.781C>T p.Q261* Substitution - Nonsense 3:52406255-52406255 - 8015196 COSM3392494 c.1526C>A p.S509* Substitution - Nonsense 3:52403619-52403619 - 9145 COSM422744 c.2188T>G p.*730G Nonstop extension 3:52402290-52402290 - YUKAT COSM5399743 c.1063C>T p.Q355* Substitution - Nonsense 3:52405163-52405163 - ccRCC-23 COSM1665367 c.155_158delGGAT p.W52fs*19 Deletion - Frameshift 3:52408571-52408574 - 2485330 COSM5702531 c.272_286del15 p.C91_A95del Deletion - In frame 3:52408047-52408061 - 61 COSM5736634 c.1133C>T p.A378V Substitution - Missense 3:52404570-52404570 - 2521214 COSM5880080 c.? p.R385* Substitution - Nonsense 2492701 COSM5599122 c.819C>T p.T273T Substitution - coding silent 3:52405877-52405877 - TCGA-DK-A1A5-01 COSM420363 c.141C>G p.I47M Substitution - Missense 3:52408588-52408588 - 1882638 COSM50881 c.781C>T p.Q261* Substitution - Nonsense 3:52406255-52406255 - CSCC-11-T COSM4489897 c.354C>T p.F118F Substitution - coding silent 3:52407979-52407979 - FS111 COSM5611423 c.659+1G>T p.? Unknown 3:52406828-52406828 - 2542189 COSM96360 c.784-2A>C p.? Unknown 3:52405914-52405914 - TCGA-21-1078-01 COSM238566 c.680G>A p.R227H Substitution - Missense 3:52406356-52406356 - 6 COSM110721 c.178C>T p.R60* Substitution - Nonsense 3:52408551-52408551 - GC_319T-GC_319N COSM4772240 c.166C>T p.R56C Substitution - Missense 3:52408563-52408563 - TCGA-B5-A0JY-01 COSM1046998 c.93G>T p.E31D Substitution - Missense 3:52409583-52409583 - W-III-04 COSM110807 c.214_238del25 p.I72fs*7 Deletion - Frameshift 3:52408491-52408515 - TCGA-EK-A2RC-01 COSM4848597 c.1313C>G p.S438* Substitution - Nonsense 3:52403832-52403832 - TCGA-AX-A0J1-01 COSM1046991 c.1486G>A p.A496T Substitution - Missense 3:52403659-52403659 - 1459158 COSM51983 c.759_759delG p.T254fs*3 Deletion - Frameshift 3:52406277-52406277 - 1556532 COSM96362 c.188C>G p.S63C Substitution - Missense 3:52408541-52408541 - 1522698 COSM96370 c.580+2T>C p.? Unknown 3:52407172-52407172 - MPM_35 COSM1716580 c.2057G>A p.G686D Substitution - Missense 3:52402421-52402421 - E19 COSM1666583 c.655delG p.A219fs*12 Deletion - Frameshift 3:52406833-52406833 - 2083212 COSM1737973 c.? p.L96_N102del Deletion - In frame 1459147 COSM51976 c.507C>G p.H169Q Substitution - Missense 3:52407247-52407247 - 209 COSM423032 c.971delC p.P324fs*11 Deletion - Frameshift 3:52405255-52405255 - MPM_13 COSM1716586 c.1117-?_1250+?del p.? Unknown TCGA-BP-4962-01 COSM480297 c.3G>A p.M1I Substitution - Missense 3:52409876-52409876 - 2265144 COSM4387422 c.125_145del21 p.P42_F48del Deletion - In frame 3:52408584-52408604 - 2485326 COSM110818 c.1_2190del2190 p.0? Whole gene deletion TCGA-IN-7808-01 COSM4119067 c.99C>A p.Y33* Substitution - Nonsense 3:52409577-52409577 - 1459154 COSM52915 c.573_580+15del8 p.? Unknown 3:52407159-52407181 - 2481859 COSM5656406 c.? p.R238fs*? Frameshift 2542177 COSM5945798 c.? p.T517fs*51 Frameshift NCI-H28 COSM96378 c.438-24_438-2del p.? Unknown 3:52407318-52407340 - BD21T COSM480288 c.799C>T p.Q267* Substitution - Nonsense 3:52405897-52405897 - 7UM COSM5945965 c.290T>C p.L97P Substitution - Missense 3:52408043-52408043 - 2542184 COSM5945800 c.? p.H169fs*18 Frameshift 1522650 COSM96357 c.1972A>T p.K658* Substitution - Nonsense 3:52402790-52402790 - MM56-P COSM307184 c.436_436A>CG p.P147fs*8 Complex - frameshift 3:52407400-52407400 - LUAD-F00257 COSM340212 c.419C>T p.A140V Substitution - Missense 3:52407417-52407417 - TCGA-BH-A0HF-01 COSM3824310 c.1291G>A p.G431S Substitution - Missense 3:52403854-52403854 - TCGA-DD-A3A9-01 COSM4920411 c.438-2A>T p.? Unknown 3:52407318-52407318 - MPM_30 COSM1716579 c.38-?_1250+?del p.? Unknown C7 COSM1732039 c.56_58delTGG p.V19delV Deletion - In frame 3:52409723-52409725 - 1459170 COSM51989 c.1891_1902del12 p.E631_A634del Deletion - In frame 3:52402860-52402871 - TCGA-BP-4340-01 COSM3365362 c.1985T>A p.I662N Substitution - Missense 3:52402673-52402673 - LC_C8 COSM1186313 c.680G>C p.R227P Substitution - Missense 3:52406356-52406356 - 2265184 COSM4387444 c.1918_1919insGG p.E640fs*16 Insertion - Frameshift 3:52402843-52402844 - X23 COSM1732177 c.358A>T p.K120* Substitution - Nonsense 3:52407975-52407975 - TCGA-B0-4713-01 COSM3365367 c.67+1G>C p.? Unknown 3:52409713-52409713 - CHC1010T COSM4954514 c.1909A>T p.K637* Substitution - Nonsense 3:52402853-52402853 - MPM_57 COSM1716587 c.1251-?_1729+?del p.? Unknown 2265146 COSM4387424 c.145_145delC p.L49fs*23 Deletion - Frameshift 3:52408584-52408584 - 2265155 COSM96374 c.284C>A p.A95D Substitution - Missense 3:52408049-52408049 - TCGA-BQ-5877-01 COSM3993217 c.812T>C p.I271T Substitution - Missense 3:52405884-52405884 - 1882616 COSM1235384 c.68-9_72del14 p.? Unknown 3:52409604-52409617 - FS55 COSM5611427 c.511_512insCCACTTTTG p.F170_V171insATF Insertion - In frame 3:52407242-52407243 - FS86 COSM5611458 c.42delC p.F15fs*57 Deletion - Frameshift 3:52409739-52409739 - MPM_36 COSM1716566 c.1538C>G p.S513* Substitution - Nonsense 3:52403607-52403607 - 2164857 COSM3736954 c.? p.? Unknown Pat_34_A COSM159326 c.673G>A p.D225N Substitution - Missense 3:52406363-52406363 - 2499286 COSM5757617 c.? p.R701fs*? Frameshift 2265179 COSM4387441 c.1217_1220delAGGA p.E406fs*23 Deletion - Frameshift 3:52404483-52404486 - TCGA-BP-4355-01 COSM3365254 c.160G>A p.E54K Substitution - Missense 3:52408569-52408569 - EV007-R6 COSM4410937 c.553G>A p.G185R Substitution - Missense 3:52407201-52407201 - HCT8 COSM1670246 c.1550C>T p.T517M Substitution - Missense 3:52403595-52403595 - YUGATOR COSM5399744 c.334C>T p.L112L Substitution - coding silent 3:52407999-52407999 - T3 COSM51984 c.2188T>A p.*730? Nonstop extension 3:52402290-52402290 - TCGA-AK-3451-01 COSM480291 c.224A>G p.D75G Substitution - Missense 3:52408505-52408505 - TCGA-B0-4691-01 COSM1184436 c.382G>T p.G128* Substitution - Nonsense 3:52407454-52407454 - 1459145 COSM51975 c.1911_1913delGTG p.K637_C638>N Complex - deletion inframe 3:52402849-52402851 - M11 COSM1732114 c.2T>C p.M1T Substitution - Missense 3:52409877-52409877 - 2542200 COSM5945804 c.? p.Q40* Substitution - Nonsense 8015299 COSM3781660 c.2057-5C>G p.? Unknown 3:52402426-52402426 - WA43-44 COSM238942 c.934G>T p.G312C Substitution - Missense 3:52405292-52405292 - H28 COSM307186 c.438-19_441del23 p.? Unknown 3:52407313-52407335 - CHOL52 COSM1744865 c.1666_1669delGTCA p.V556fs*14 Deletion - Frameshift 3:52403476-52403479 - FS36 COSM2853451 c.1939G>T p.E647* Substitution - Nonsense 3:52402823-52402823 - 1459134 COSM52519 c.376-9_416del50 p.? Unknown 3:52407420-52407469 - NYU1245 COSM4770835 c.1114C>T p.Q372* Substitution - Nonsense 3:52405112-52405112 - 1522694 COSM96369 c.437+1G>T p.? Unknown 3:52407398-52407398 - NYU321 COSM4770741 c.2047delG p.A683fs*9 Deletion - Frameshift 3:52402611-52402611 - TCGA-B0-5107-01 COSM480290 c.233A>G p.N78S Substitution - Missense 3:52408496-52408496 - MPM_15 COSM1716577 c.38-?_931+?del p.? Unknown 2542179 COSM4169301 c.? p.? Unknown T25 COSM423037 c.2051delA p.Q684fs*8 Deletion - Frameshift 3:52402607-52402607 - 2164853 COSM3736950 c.1392_1392delC p.I465fs*106 Deletion - Frameshift 3:52403753-52403753 - ASHPC_0022_Pa_P COSM4962755 c.321C>A p.D107E Substitution - Missense 3:52408012-52408012 - T-b COSM308442 c.870delC p.N290fs*45 Deletion - Frameshift 3:52405826-52405826 - 84 COSM1169489 c.? p.? Unknown ccRCC-9 COSM1665368 c.38-1_38delGG p.? Unknown 3:52409743-52409744 - 2499264 COSM5757614 c.? p.W202* Substitution - Nonsense CHC794T COSM4949532 c.92delA p.E31fs*41 Deletion - Frameshift 3:52409584-52409584 - MPM_45 COSM1716585 c.256-?_375+?del p.? Unknown 3:52407958-52408077 - FS75 COSM5611454 c.1804delG p.E602fs*15 Deletion - Frameshift 3:52403224-52403224 - 162 COSM423033 c.1219delG p.D407fs*23 Deletion - Frameshift 3:52404484-52404484 - RMH008-R3 COSM4411449 c.829C>T p.Q277* Substitution - Nonsense 3:52405867-52405867 - 2265165 COSM4387435 c.506A>C p.H169P Substitution - Missense 3:52407248-52407248 - LAPC-4 COSM238566 c.680G>A p.R227H Substitution - Missense 3:52406356-52406356 - 1556521 COSM48859 c.1153C>T p.R385* Substitution - Nonsense 3:52404550-52404550 - CHOL08 COSM1744863 c.698delT p.V233fs*16 Deletion - Frameshift 3:52406338-52406338 - LUAD-F00368 COSM341361 c.576C>T p.D192D Substitution - coding silent 3:52407178-52407178 - AOCS-144-1-3 COSM4149999 c.1274A>C p.K425T Substitution - Missense 3:52403871-52403871 - 1556526 COSM110728 c.812_821del10 p.I271fs*61 Deletion - Frameshift 3:52405875-52405884 - XPA31PT COSM1580073 c.1357A>G p.K453E Substitution - Missense 3:52403788-52403788 - 2542207 COSM5945805 c.? p.S113fs*3 Frameshift FS60 COSM5611451 c.40C>T p.L14F Substitution - Missense 3:52409741-52409741 - RK279_C01 COSM3702457 c.502T>C p.F168L Substitution - Missense 3:52407252-52407252 - TCGA-D5-6928-01 COSM1424465 c.619C>T p.R207W Substitution - Missense 3:52406869-52406869 - 1459162 COSM51986 c.144_144delC p.L49fs*23 Deletion - Frameshift 3:52408585-52408585 - 2485317 COSM5702626 c.123-2A>G p.? Unknown 3:52408608-52408608 - 2265167 COSM4387457 c.581-5_590del15 p.? Unknown 3:52406898-52406907 - 2265149 COSM110721 c.178C>T p.R60* Substitution - Nonsense 3:52408551-52408551 - MPM_04 COSM1716568 c.581-?_659+?del p.? Unknown 3:52406829-52406907 - TCGA-CD-8536-01 COSM4119064 c.524C>A p.P175H Substitution - Missense 3:52407230-52407230 - Au2 COSM5599122 c.819C>T p.T273T Substitution - coding silent 3:52405877-52405877 - TCGA-B0-5096-01 COSM480298 c.1A>G p.M1V Substitution - Missense 3:52409878-52409878 - 2542187 COSM5945801 c.? p.S460* Substitution - Nonsense 2485332 COSM5702533 c.370_372delCCT p.P124del Deletion - In frame 3:52407961-52407963 - 1N48-VS-1T48 COSM4976363 c.1730-1G>A p.? Unknown 3:52403299-52403299 - 1882641 COSM1235383 c.790_790delA p.R264fs*2 Deletion - Frameshift 3:52405906-52405906 - 2406613 COSM96358 c.2050C>T p.Q684* Substitution - Nonsense 3:52402608-52402608 - YUKIL COSM1685550 c.168_179del12 p.R57_R60delRSRR Deletion - In frame 3:52408550-52408561 - EV007-R2 COSM4410937 c.553G>A p.G185R Substitution - Missense 3:52407201-52407201 - 2368110 COSM5006574 c.? p.L709F Substitution - Missense 1882619 COSM1235380 c.662_662delA p.E221fs*10 Deletion - Frameshift 3:52406374-52406374 - 1459146 COSM52914 c.376-7_418del50 p.? Unknown 3:52407418-52407467 - ESCC_BICR_010T COSM5436015 c.25G>A p.E9K Substitution - Missense 3:52409854-52409854 - RK077_C01 COSM3767492 c.758A>T p.Q253L Substitution - Missense 3:52406278-52406278 - 2164848 COSM3736948 c.58_59insTG p.E20fs*53 Insertion - Frameshift 3:52409722-52409723 - 69 COSM1169642 c.2110_2111insG p.V704fs*13 Insertion - Frameshift 3:52402367-52402368 - RKO COSM2853459 c.1564C>A p.P522T Substitution - Missense 3:52403581-52403581 - WA17 COSM238941 c.1730-9_1732delTCTTCCCAGAGG p.? Unknown 3:52403296-52403307 - 3N35-VS-3T35 COSM1692814 c.1547C>T p.P516L Substitution - Missense 3:52403598-52403598 - AB13 COSM1732018 c.1701_1702insCT p.G568fs*4 Insertion - Frameshift 3:52403443-52403444 - 2406616 COSM5075566 c.1799_1800insAC p.K601fs*17 Insertion - Frameshift 3:52403228-52403229 - CHOL26 COSM1744864 c.1231_1232insA p.N411fs*7 Insertion - Frameshift 3:52404471-52404472 - T149 COSM423034 c.1256delA p.K419fs*11 Deletion - Frameshift 3:52403889-52403889 - PTC-515C COSM4158211 c.717C>T p.I239I Substitution - coding silent 3:52406319-52406319 - 2265176 COSM4387439 c.1147C>T p.R383C Substitution - Missense 3:52404556-52404556 - Padua012 COSM5095502 c.752_753delAC p.N251fs*32 Deletion - Frameshift 3:52406283-52406284 - BD105T COSM5514411 c.122+1delG p.? Unknown 3:52409553-52409553 - 1556530 COSM110732 c.243C>A p.F81L Substitution - Missense 3:52408486-52408486 - 1522702 COSM96366 c.1937_1955del19 p.Y646fs*3 Deletion - Frameshift 3:52402807-52402825 - 1882637 COSM50881 c.781C>T p.Q261* Substitution - Nonsense 3:52406255-52406255 - HCC118T COSM1617864 c.807_808insAG p.L270fs*2 Insertion - Frameshift 3:52405888-52405889 - 1459157 COSM52923 c.353_372del20 p.F118fs*1 Deletion - Frameshift 3:52407961-52407980 - MPM_58 COSM1716589 c.1117-?_1890+?del p.? Unknown MPM_13 COSM1716575 c.1730-?_1890+?del p.? Unknown 3:52403138-52403298 - K340 COSM249471 c.2077G>T p.E693* Substitution - Nonsense 3:52402401-52402401 - MM39-P COSM307188 c.1_375del375 p.M1_E125del Deletion - In frame 2542207 COSM5945807 c.? p.Y44* Substitution - Nonsense 1522693 COSM96361 c.118C>T p.Q40* Substitution - Nonsense 3:52409558-52409558 - TCGA-G9-6338-01 COSM3674006 c.1257G>T p.K419N Substitution - Missense 3:52403888-52403888 - 2083235 COSM1737979 c.? p.? Unknown 2265188 COSM1716586 c.1117-?_1250+?del p.? Unknown 326 COSM1169486 c.2000G>A p.R667K Substitution - Missense 3:52402658-52402658 - T38 COSM5344521 c.1251-1G>C p.? Unknown 3:52403895-52403895 - 2083226 COSM1737977 c.? p.H274S Substitution - Missense TCGA-FW-A3R5-06 COSM3916386 c.428G>A p.S143N Substitution - Missense 3:52407408-52407408 - 1882620 COSM1235380 c.662_662delA p.E221fs*10 Deletion - Frameshift 3:52406374-52406374 - TCGA-B0-4707-01 COSM3358469 c.229_232delGTGA p.V77fs*9 Deletion - Frameshift 3:52408497-52408500 - TCGA-AA-3663-01 COSM1046989 c.1809C>T p.V603V Substitution - coding silent 3:52403219-52403219 - T3225 COSM4665178 c.1074G>A p.P358P Substitution - coding silent 3:52405152-52405152 - PD7199a COSM5781830 c.755G>A p.R252H Substitution - Missense 3:52406281-52406281 - T70 COSM96358 c.2050C>T p.Q684* Substitution - Nonsense 3:52402608-52402608 - TCGA-EK-A2RB-01 COSM4411449 c.829C>T p.Q277* Substitution - Nonsense 3:52405867-52405867 - 2265168 COSM1424466 c.587G>A p.W196* Substitution - Nonsense 3:52406901-52406901 - BK0100 COSM584258 c.535C>T p.R179W Substitution - Missense 3:52407219-52407219 - 2304132 COSM3824312 c.134G>A p.G45E Substitution - Missense 3:52408595-52408595 - SC_9057 COSM5550779 c.283G>A p.A95T Substitution - Missense 3:52408050-52408050 - 1522700 COSM96364 c.860C>G p.S287* Substitution - Nonsense 3:52405836-52405836 - B63-Tumor COSM52918 c.1984-1G>T p.? Unknown 3:52402675-52402675 - 2542207 COSM5945806 c.? p.M80fs*45 Frameshift 1556527 COSM110729 c.226_239del14 p.I76fs*45 Deletion - Frameshift 3:52408490-52408503 - 587342 COSM1184436 c.382G>T p.G128* Substitution - Nonsense 3:52407454-52407454 - 1522647 COSM96354 c.1604_1604delA p.D535fs*36 Deletion - Frameshift 3:52403541-52403541 - Gp5D COSM2853466 c.1445C>T p.S482L Substitution - Missense 3:52403700-52403700 - BD224T COSM5508601 c.429C>T p.S143S Substitution - coding silent 3:52407407-52407407 - B63 COSM52918 c.1984-1G>T p.? Unknown 3:52402675-52402675 - CHC1182T COSM5347622 c.123-5_127delCCCAGCCCTG p.? Unknown 3:52408602-52408611 - TCGA-26-5133-01 COSM2156956 c.227T>C p.I76T Substitution - Missense 3:52408502-52408502 - S09-2518-TP COSM4991931 c.23T>G p.L8R Substitution - Missense 3:52409856-52409856 - TCGA-B0-5092-01 COSM480288 c.799C>T p.Q267* Substitution - Nonsense 3:52405897-52405897 - TCGA-CW-5580-01 COSM480295 c.50T>C p.L17P Substitution - Missense 3:52409731-52409731 - FS88 COSM4387454 c.438-2A>G p.? Unknown 3:52407318-52407318 - 1556491 COSM110724 c.2090C>G p.S697C Substitution - Missense 3:52402388-52402388 - TCGA-B5-A11H-01 COSM1046996 c.631A>G p.M211V Substitution - Missense 3:52406857-52406857 - TCGA-BS-A0U7-01 COSM1046993 c.1226T>C p.V409A Substitution - Missense 3:52404477-52404477 - BD224T COSM2853489 c.504C>T p.F168F Substitution - coding silent 3:52407250-52407250 - FS112 COSM5611424 c.1303_1309delGGGCAAC p.G435fs*134 Deletion - Frameshift 3:52403836-52403842 - BK0060 COSM4188375 c.580G>T p.G194W Substitution - Missense 3:52407174-52407174 - 2406618 COSM5075566 c.1799_1800insAC p.K601fs*17 Insertion - Frameshift 3:52403228-52403229 - 9113_T COSM1245946 c.709C>T p.R237C Substitution - Missense 3:52406327-52406327 - 2485314 COSM5702523 c.255G>C p.Q85H Substitution - Missense 3:52408474-52408474 - 1522694 COSM96367 c.122+2T>A p.? Unknown 3:52409552-52409552 - LUAD-S01315 COSM345545 c.1081C>G p.L361V Substitution - Missense 3:52405145-52405145 - 2481856 COSM5656403 c.? p.F170C Substitution - Missense RK282_C01 COSM4964076 c.590G>C p.G197A Substitution - Missense 3:52406898-52406898 - 104022 COSM93952 c.836C>T p.S279L Substitution - Missense 3:52405860-52405860 - 2485304 COSM5325085 c.1661delG p.G554fs*17 Deletion - Frameshift 3:52403484-52403484 - MPM_59 COSM1716588 c.1891-?_2056+?del p.? Unknown MPM_18 COSM1716574 c.376-?_580+?del p.? Unknown LC_S32 COSM1190738 c.102_111del10 p.D34fs*35 Deletion - Frameshift 3:52409565-52409574 - 350 COSM1169487 c.645_645delC p.L216fs*15 Deletion - Frameshift 3:52406843-52406843 - TCGA-D3-A5GU-06 COSM3596039 c.376-1G>A p.? Unknown 3:52407461-52407461 - TCGA-BR-4201-01 COSM4119058 c.1810G>A p.V604M Substitution - Missense 3:52403218-52403218 - 316 COSM1169485 c.29G>A p.S10N Substitution - Missense 3:52409850-52409850 - 2265137 COSM4387450 c.38-1G>C p.? Unknown 3:52409744-52409744 - 61 COSM252373 c.316G>A p.V106M Substitution - Missense 3:52408017-52408017 - ccRCC-94 COSM96364 c.860C>G p.S287* Substitution - Nonsense 3:52405836-52405836 - 2481857 COSM5656404 c.? p.D184Y Substitution - Missense 2265182 COSM480282 c.1881C>G p.Y627* Substitution - Nonsense 3:52403147-52403147 - TCGA-AA-A010-01 COSM279113 c.896A>G p.N299S Substitution - Missense 3:52405800-52405800 - 2265148 COSM4387426 c.170_177GGTCCCGG>AGT p.R57fs*10 Complex - frameshift 3:52408552-52408559 - TCGA-GC-A3RB-01 COSM1309341 c.1012C>T p.P338S Substitution - Missense 3:52405214-52405214 - ICC44 COSM1717430 c.? p.F81L Substitution - Missense TCGA-HU-A4GQ-01 COSM4119057 c.1839G>A p.T613T Substitution - coding silent 3:52403189-52403189 - PCSI_0216_Pa_P_526 COSM5762192 c.1569C>T p.V523V Substitution - coding silent 3:52403576-52403576 - TCGA-A7-A26J-01 COSM3824308 c.1730-1G>T p.? Unknown 3:52403299-52403299 - TCGA-BP-4352-01 COSM3774109 c.685A>C p.N229H Substitution - Missense 3:52406351-52406351 - 2083216 COSM1737980 c.? p.? Unknown 2215769 COSM110721 c.178C>T p.R60* Substitution - Nonsense 3:52408551-52408551 - TCGA-26-5133 COSM2156956 c.227T>C p.I76T Substitution - Missense 3:52408502-52408502 - BRC13 COSM5025953 c.598G>A p.E200K Substitution - Missense 3:52406890-52406890 - TCGA-FS-A4FD-06 COSM3596040 c.186C>T p.V62V Substitution - coding silent 3:52408543-52408543 - 2485333 COSM5702628 c.256-1_256insG p.? Unknown 3:52408077-52408078 - PD18037a COSM5773803 c.1224C>T p.D408D Substitution - coding silent 3:52404479-52404479 - ESCC-D21 COSM4976363 c.1730-1G>A p.? Unknown 3:52403299-52403299 - TCGA-C8-A3M7-01 COSM3824309 c.1696G>A p.E566K Substitution - Missense 3:52403449-52403449 - K257 COSM249506 c.2041_2042insT p.M681fs*36 Insertion - Frameshift 3:52402616-52402617 - A8 COSM1732212 c.851A>G p.E284G Substitution - Missense 3:52405845-52405845 - 1882615 COSM1235384 c.68-9_72del14 p.? Unknown 3:52409604-52409617 - 2543945 COSM5574318 c.1177C>T p.Q393* Substitution - Nonsense 3:52404526-52404526 - HCT15 COSM1670246 c.1550C>T p.T517M Substitution - Missense 3:52403595-52403595 - RK057_C01 COSM3767494 c.654T>C p.T218T Substitution - coding silent 3:52406834-52406834 - ESCC-F84 COSM584256 c.253C>T p.Q85* Substitution - Nonsense 3:52408476-52408476 - MM19-P COSM110818 c.1_2190del2190 p.0? Whole gene deletion MPM_58 COSM1716591 c.1-?_122+?del p.? Unknown 1556807 COSM110722 c.1768C>T p.Q590* Substitution - Nonsense 3:52403260-52403260 - 2265169 COSM1424466 c.587G>A p.W196* Substitution - Nonsense 3:52406901-52406901 - TCGA-B5-A11Y-01 COSM1046992 c.1484C>T p.T495M Substitution - Missense 3:52403661-52403661 - 2265180 COSM1235382 c.1717_1717delC p.L573fs*3 Deletion - Frameshift 3:52403428-52403428 - 2265142 COSM4387452 c.122+1G>T p.? Unknown 3:52409553-52409553 - RMH008-R7 COSM4411453 c.1557delC p.S520fs*51 Deletion - Frameshift 3:52403588-52403588 - 2485301 COSM5702517 c.524C>G p.P175R Substitution - Missense 3:52407230-52407230 - 1990625 COSM1666778 c.256-2A>C p.? Unknown 3:52408079-52408079 - 2265154 COSM4387448 c.256-25_270del40 p.? Unknown 3:52408063-52408077 - FS89 COSM5025953 c.598G>A p.E200K Substitution - Missense 3:52406890-52406890 - 2265159 COSM4387432 c.437G>A p.R146K Substitution - Missense 3:52407399-52407399 - NO36 COSM96375 c.354_354delC p.F118fs*69 Deletion - Frameshift 3:52407979-52407979 - ccRCC-35 COSM1660730 c.92A>T p.E31V Substitution - Missense 3:52409584-52409584 - B106 COSM1753302 c.505C>T p.H169Y Substitution - Missense 3:52407249-52407249 - 2485327 COSM5702530 c.506_506delA p.H169fs*18 Deletion - Frameshift 3:52407248-52407248 - TCGA-CU-A0YR-01 COSM420364 c.673G>C p.D225H Substitution - Missense 3:52406363-52406363 - FS88 COSM5611459 c.1301delA p.D434fs*137 Deletion - Frameshift 3:52403844-52403844 - OV207 COSM252373 c.316G>A p.V106M Substitution - Missense 3:52408017-52408017 - LUAD-S01315 COSM345546 c.404C>G p.P135R Substitution - Missense 3:52407432-52407432 - TCGA-G3-A25T-01 COSM159327 c.838C>T p.Q280* Substitution - Nonsense 3:52405858-52405858 - TCGA-B0-4842-01 COSM480285 c.936T>G p.G312G Substitution - coding silent 3:52405290-52405290 - 2083225 COSM1737976 c.? p.H141R Substitution - Missense MPM_31 COSM1716581 c.376-?_1116+?del p.? Unknown 1459163 COSM51972 c.382G>C p.G128R Substitution - Missense 3:52407454-52407454 - Z15 COSM110721 c.178C>T p.R60* Substitution - Nonsense 3:52408551-52408551 - T184 COSM422741 c.889G>T p.E297* Substitution - Nonsense 3:52405807-52405807 - TCGA-FP-A4BE-01 COSM4119059 c.1652G>A p.R551H Substitution - Missense 3:52403493-52403493 - 1522696 COSM51988 c.273T>G p.C91W Substitution - Missense 3:52408060-52408060 - NCI-H2452 COSM96374 c.284C>A p.A95D Substitution - Missense 3:52408049-52408049 - 1556802 COSM110737 c.133G>T p.G45* Substitution - Nonsense 3:52408596-52408596 - HX15T COSM1617862 c.1508delT p.F503fs*68 Deletion - Frameshift 3:52403637-52403637 - SH-5693 COSM5020268 c.1786A>G p.S596G Substitution - Missense 3:52403242-52403242 - 78 COSM423036 c.1793delC p.P598fs*19 Deletion - Frameshift 3:52403235-52403235 - 1767422 COSM329084 c.179G>A p.R60Q Substitution - Missense 3:52408550-52408550 - TCGA-CZ-5985-01 COSM480286 c.932-1G>T p.? Unknown 3:52405295-52405295 - BD33T COSM5490541 c.438-1G>T p.? Unknown 3:52407317-52407317 - FS31 COSM5611440 c.651delC p.T218fs*13 Deletion - Frameshift 3:52406837-52406837 - 2485312 COSM5702521 c.1904_1907delTGCT p.L635fs*19 Deletion - Frameshift 3:52402855-52402858 - NYU274 COSM4770791 c.1957G>T p.E653* Substitution - Nonsense 3:52402805-52402805 - TCGA-AP-A059-01 COSM1046994 c.1195G>A p.D399N Substitution - Missense 3:52404508-52404508 - XPA33PT COSM1580073 c.1357A>G p.K453E Substitution - Missense 3:52403788-52403788 - 1522646 COSM96353 c.1553_1559delGGCCCTC p.R518fs*51 Deletion - Frameshift 3:52403586-52403592 - FS97 COSM4387421 c.82C>T p.Q28* Substitution - Nonsense 3:52409594-52409594 - TCGA-EE-A2A5-06 COSM3596038 c.1246C>T p.L416F Substitution - Missense 3:52404457-52404457 - 2265173 COSM4387437 c.904_905insT p.P302fs*5 Insertion - Frameshift 3:52405791-52405792 - PT48 COSM5931223 c.1838C>T p.T613M Substitution - Missense 3:52403190-52403190 - 2_tFL COSM4171255 c.1116G>T p.Q372H Substitution - Missense 3:52405110-52405110 - TCGA-BR-4257-01 COSM4119068 c.10G>T p.G4C Substitution - Missense 3:52409869-52409869 - 2543944 COSM4387431 c.422A>G p.H141R Substitution - Missense 3:52407414-52407414 - CHOL01 COSM1742839 c.784-1G>A p.? Unknown 3:52405913-52405913 - CHC1010T COSM4954514 c.1909A>T p.K637* Substitution - Nonsense 3:52402853-52402853 - 2485320 COSM5702526 c.2009_2029del21 p.N670_C676del Deletion - In frame 3:52402629-52402649 - MM48-P COSM307188 c.1_375del375 p.M1_E125del Deletion - In frame MM21-P COSM110818 c.1_2190del2190 p.0? Whole gene deletion MPM_14 COSM1716576 c.38-?_1890+?del p.? Unknown HCT-15 COSM1670246 c.1550C>T p.T517M Substitution - Missense 3:52403595-52403595 - 2265166 COSM4387455 c.580+2T>G p.? Unknown 3:52407172-52407172 - AOCS-034-3-8 COSM4150000 c.34C>G p.P12A Substitution - Missense 3:52409845-52409845 - TCGA-CJ-4638-01 COSM96361 c.118C>T p.Q40* Substitution - Nonsense 3:52409558-52409558 - CSCC-62-T COSM4495571 c.456C>T p.L152L Substitution - coding silent 3:52407298-52407298 - ccRCC-23 COSM1660729 c.152A>T p.K51I Substitution - Missense 3:52408577-52408577 - TCGA-C5-A1BM-01 COSM110735 c.1379C>G p.S460* Substitution - Nonsense 3:52403766-52403766 - F1 COSM1732051 c.1558T>C p.S520P Substitution - Missense 3:52403587-52403587 - 1966437 COSM48859 c.1153C>T p.R385* Substitution - Nonsense 3:52404550-52404550 - 2265133 COSM1732114 c.2T>C p.M1T Substitution - Missense 3:52409877-52409877 - MM62-P COSM307183 c.518A>C p.Y173S Substitution - Missense 3:52407236-52407236 - MM35-P COSM110735 c.1379C>G p.S460* Substitution - Nonsense 3:52403766-52403766 - S0045 COSM5883842 c.908C>A p.A303E Substitution - Missense 3:52405788-52405788 - 2499277 COSM5757615 c.? p.C91F Substitution - Missense CHOL42 COSM1742841 c.1315G>T p.V439L Substitution - Missense 3:52403830-52403830 - FS60 COSM1665368 c.38-1_38delGG p.? Unknown 3:52409743-52409744 - 1887279 COSM1235456 c.568_569CC>T p.P190fs*41 Deletion - Frameshift 3:52407185-52407186 - TCGA-AP-A051-01 COSM1046995 c.1069C>A p.L357M Substitution - Missense 3:52405157-52405157 - 2485310 COSM480294 c.67+1G>A p.? Unknown 3:52409713-52409713 - 222 COSM1169483 c.383G>T p.G128V Substitution - Missense 3:52407453-52407453 - 2265150 COSM4387427 c.202_227del26 p.D68fs*3 Deletion - Frameshift 3:52408502-52408527 - BK0051 COSM4188015 c.254A>G p.Q85R Substitution - Missense 3:52408475-52408475 - 2543946 COSM5574319 c.1924_1924delG p.E642fs*13 Deletion - Frameshift 3:52402838-52402838 - 2083207 COSM1737979 c.? p.? Unknown 38 COSM1169481 c.2101C>T p.R701C Substitution - Missense 3:52402377-52402377 - HMeso01A COSM96377 c.2054A>T p.E685V Substitution - Missense 3:52402604-52402604 - 1459171 COSM51990 c.495_519del25 p.E166fs*13 Deletion - Frameshift 3:52407235-52407259 - TCGA-FW-A3R5-06 COSM3916385 c.969C>T p.A323A Substitution - coding silent 3:52405257-52405257 - Pat_51_A COSM5865002 c.183_186delGGTC p.K61fs*10 Deletion - Frameshift 3:52408543-52408546 - E13 COSM1666387 c.91G>A p.E31K Substitution - Missense 3:52409585-52409585 - 1966425 COSM1651693 c.660_783del124 p.? Unknown 3:52406253-52406376 - 1556443 COSM110721 c.178C>T p.R60* Substitution - Nonsense 3:52408551-52408551 - 1459149 COSM51978 c.757C>T p.Q253* Substitution - Nonsense 3:52406279-52406279 - BCM375T COSM4951024 c.101A>C p.D34A Substitution - Missense 3:52409575-52409575 - TCGA-B0-4827-01 COSM3358468 c.848delA p.E283fs*52 Deletion - Frameshift 3:52405848-52405848 - 2406605 COSM5075565 c.1865_1866delTG p.L622fs*1 Deletion - Frameshift 3:52403162-52403163 - ATL053 COSM5506096 c.233delA p.N78fs*9 Deletion - Frameshift 3:52408496-52408496 - 18MT-CNS COSM110721 c.178C>T p.R60* Substitution - Nonsense 3:52408551-52408551 - MPM_66 COSM1716568 c.581-?_659+?del p.? Unknown 3:52406829-52406907 - FS43 COSM5611445 c.1027_1028insAGCC p.L343fs*56 Insertion - Frameshift 3:52405198-52405199 - MPM_11 COSM1716573 c.38-?_122+?del p.? Unknown K43 COSM249538 c.299_315del17 p.L100fs*20 Deletion - Frameshift 3:52408018-52408034 - FS14 COSM5611434 c.40delC p.L14fs*58 Deletion - Frameshift 3:52409741-52409741 - 2218678 COSM4169842 c.? p.E54* Substitution - Nonsense 1556524 COSM110820 c.634_634delG p.E212fs*19 Deletion - Frameshift 3:52406854-52406854 - 2164852 COSM3736946 c.592G>T p.E198* Substitution - Nonsense 3:52406896-52406896 - 16638 COSM48860 c.406G>T p.E136* Substitution - Nonsense 3:52407430-52407430 - Meso37 COSM96372 c.160G>T p.E54* Substitution - Nonsense 3:52408569-52408569 - ccRCC-59 COSM1659757 c.2072delT p.L691fs*>39 Deletion - Frameshift 3:52402406-52402406 - ICC23 COSM1717431 c.? p.L35R Substitution - Missense FS12 COSM1660728 c.271T>G p.C91G Substitution - Missense 3:52408062-52408062 - MPM_33 COSM1716570 c.38-?_2190+?del p.? Unknown TCGA-BR-8371-01 COSM4119062 c.734T>C p.L245P Substitution - Missense 3:52406302-52406302 - TCGA-B0-5088-01 COSM480296 c.29G>C p.S10T Substitution - Missense 3:52409850-52409850 - L11 COSM1732091 c.1441_1442insA p.H481fs*11 Insertion - Frameshift 3:52403703-52403704 - EV007-R9 COSM4410937 c.553G>A p.G185R Substitution - Missense 3:52407201-52407201 - CSCC-19-T COSM4554880 c.634G>A p.E212K Substitution - Missense 3:52406854-52406854 - TCGA-A2-A0EQ-01 COSM446833 c.145C>G p.L49V Substitution - Missense 3:52408584-52408584 - ICC40 COSM1717433 c.? p.H141P Substitution - Missense 1522640 COSM96349 c.241T>G p.F81V Substitution - Missense 3:52408488-52408488 - ESCC-F119 COSM5047036 c.304A>G p.N102D Substitution - Missense 3:52408029-52408029 - YUWAPO COSM5399740 c.2014G>A p.D672N Substitution - Missense 3:52402644-52402644 - NYU937 COSM4770756 c.1497delC p.I499fs*72 Deletion - Frameshift 3:52403648-52403648 - 2368114 COSM5006578 c.? p.? Unknown 2521215 COSM5880080 c.? p.R385* Substitution - Nonsense FS51 COSM51981 c.2015A>G p.D672G Substitution - Missense 3:52402643-52402643 - 1556528 COSM110730 c.6_7insT p.K3fs*1 Insertion - Frameshift 3:52409872-52409873 - TCGA-BP-4770-01 COSM480284 c.1078T>C p.F360L Substitution - Missense 3:52405148-52405148 - TCGA-CJ-4641-01 COSM1137062 c.466C>T p.Q156* Substitution - Nonsense 3:52407288-52407288 - BD57T COSM4665179 c.449G>A p.R150H Substitution - Missense 3:52407305-52407305 - 2542192 COSM5611423 c.659+1G>T p.? Unknown 3:52406828-52406828 - ICC55 COSM1717432 c.? p.K419T Substitution - Missense 16993 COSM48859 c.1153C>T p.R385* Substitution - Nonsense 3:52404550-52404550 - 18 COSM249184 c.1358_1359delAA p.K453fs*15 Deletion - Frameshift 3:52403786-52403787 - M9 COSM1732122 c.256-1G>A p.? Unknown 3:52408078-52408078 - 1556525 COSM110727 c.915_916insT p.E306fs*1 Insertion - Frameshift 3:52405780-52405781 - FS94 COSM51977 c.588G>A p.W196* Substitution - Nonsense 3:52406900-52406900 - 2485331 COSM5702532 c.1768_1769insG p.Q590fs*53 Insertion - Frameshift 3:52403259-52403260 - 1990618 COSM96362 c.188C>G p.S63C Substitution - Missense 3:52408541-52408541 - 63 COSM423029 c.21_32del12 p.E7_S10delELES Deletion - In frame 3:52409847-52409858 - EV007-R5 COSM4410937 c.553G>A p.G185R Substitution - Missense 3:52407201-52407201 - NPCPR30 COSM4996362 c.587G>T p.W196L Substitution - Missense 3:52406901-52406901 - NYU872 COSM4771209 c.272G>A p.C91Y Substitution - Missense 3:52408061-52408061 - MPM_58 COSM1716568 c.581-?_659+?del p.? Unknown 3:52406829-52406907 - 2485311 COSM5702627 c.?_?del? p.? Unknown 6UM COSM5945964 c.1937A>G p.Y646C Substitution - Missense 3:52402825-52402825 - T166 COSM307730 c.283G>C p.A95P Substitution - Missense 3:52408050-52408050 - MEL-JWCI-WGS-26 COSM1167561 c.661delG p.E221fs*10 Deletion - Frameshift 3:52406375-52406375 - MPM_02 COSM1716564 c.778C>T p.Q260* Substitution - Nonsense 3:52406258-52406258 - 6UM COSM5945961 c.631_636delATGGAG p.M211_E212del Deletion - In frame 3:52406852-52406857 - 2083198 COSM1737972 c.? p.L97P Substitution - Missense 2250185 COSM1670246 c.1550C>T p.T517M Substitution - Missense 3:52403595-52403595 - FS37 COSM5611443 c.634G>T p.E212* Substitution - Nonsense 3:52406854-52406854 - TCGA-A6-6138-01 COSM1424460 c.1338C>T p.N446N Substitution - coding silent 3:52403807-52403807 - TCGA-BF-A1PZ-01 COSM4399344 c.1928T>C p.I643T Substitution - Missense 3:52402834-52402834 - TCGA-B0-4703-01 COSM3365366 c.67+2T>G p.? Unknown 3:52409712-52409712 - TCGA-HQ-A2OE-01 COSM1309340 c.1968G>C p.K656N Substitution - Missense 3:52402794-52402794 - O24B COSM96376 c.966_978del13 p.P324fs*7 Deletion - Frameshift 3:52405248-52405260 - 2542195 COSM5945809 c.784-1G>T p.? Unknown 3:52405913-52405913 - FS118 COSM5611428 c.44delT p.F15fs*57 Deletion - Frameshift 3:52409737-52409737 - TCGA-B8-4151-01 COSM3358464 c.2149delC p.R717fs*>13 Deletion - Frameshift 3:52402329-52402329 - 1990617 COSM1666695 c.1729+1G>T p.? Unknown 3:52403415-52403415 - TCGA-CJ-4923-01 COSM480283 c.1876A>T p.K626* Substitution - Nonsense 3:52403152-52403152 - 2083190 COSM1717423 c.? p.? Unknown 1459155 COSM51982 c.621_636del16 p.R208fs*18 Deletion - Frameshift 3:52406852-52406867 - T211 COSM110726 c.58G>T p.E20* Substitution - Nonsense 3:52409723-52409723 - 2542173 COSM5945796 c.? p.Y129* Substitution - Nonsense 2265178 COSM4387440 c.1175_1182delAGCAGTAC p.Q392fs*3 Deletion - Frameshift 3:52404521-52404528 - JEKO-1 COSM1738879 c.1825A>G p.S609G Substitution - Missense 3:52403203-52403203 - 2265143 COSM4387453 c.123-2A>T p.? Unknown 3:52408608-52408608 - TCGA-CG-5721-01 COSM4119061 c.801G>A p.Q267Q Substitution - coding silent 3:52405895-52405895 - 2265161 COSM4387454 c.438-2A>G p.? Unknown 3:52407318-52407318 - 8012774 COSM3392494 c.1526C>A p.S509* Substitution - Nonsense 3:52403619-52403619 - SB_07 COSM48859 c.1153C>T p.R385* Substitution - Nonsense 3:52404550-52404550 - 2265172 COSM50881 c.781C>T p.Q261* Substitution - Nonsense 3:52406255-52406255 - K50 COSM249373 c.1573_1580delTCCCACAT p.S525fs*9 Deletion - Frameshift 3:52403565-52403572 - BD197T COSM5508588 c.359delA p.K120fs*67 Deletion - Frameshift 3:52407974-52407974 - XHDG04C COSM4767419 c.489G>A p.R163R Substitution - coding silent 3:52407265-52407265 - 1459176 COSM51992 c.2080_2105del26 p.Q694fs*14 Deletion - Frameshift 3:52402373-52402398 - 2265138 COSM4387420 c.40_52del13 p.L14fs*54 Deletion - Frameshift 3:52409729-52409741 - 69 COSM5016009 c.1984-3_1984delCAGA p.? Unknown 3:52402674-52402677 - SH-102782 COSM5021041 c.1552C>T p.R518W Substitution - Missense 3:52403593-52403593 - F4 COSM1732211 c.1946G>A p.C649Y Substitution - Missense 3:52402816-52402816 - 2485319 COSM5702525 c.223G>A p.D75N Substitution - Missense 3:52408506-52408506 - RMH002-R3 COSM4411165 c.1411_1412insC p.G472fs*20 Insertion - Frameshift 3:52403733-52403734 - TCGA-BP-4798-01 COSM3365363 c.932-2A>G p.? Unknown 3:52405296-52405296 - 1459172 COSM52917 c.38-12_63del38 p.? Unknown 3:52409718-52409755 - MPM_57 COSM1716568 c.581-?_659+?del p.? Unknown 3:52406829-52406907 - 1522704 COSM96371 c.2057-4G>T p.? Unknown 3:52402425-52402425 - 1522649 COSM96356 c.1952_1953insG p.E652fs*12 Insertion - Frameshift 3:52402809-52402810 - MPM_12 COSM1716574 c.376-?_580+?del p.? Unknown 2083237 COSM1737978 c.? p.D68G Substitution - Missense 2485313 COSM5702522 c.2079_2080insG p.Q694fs*23 Insertion - Frameshift 3:52402398-52402399 - 2265186 COSM4387446 c.1986_1989delTGAT p.I662fs*29 Deletion - Frameshift 3:52402669-52402672 - SP-018 COSM110805 c.2095_2096delCG p.R699fs*17 Deletion - Frameshift 3:52402382-52402383 - 2485309 COSM1666806 c.518A>G p.Y173C Substitution - Missense 3:52407236-52407236 - 2265151 COSM584256 c.253C>T p.Q85* Substitution - Nonsense 3:52408476-52408476 - ESCC_BICR_042T COSM51978 c.757C>T p.Q253* Substitution - Nonsense 3:52406279-52406279 - TCGA-AP-A059-01 COSM1046987 c.1944G>A p.A648A Substitution - coding silent 3:52402818-52402818 - TCGA-BP-5182-01 COSM480297 c.3G>A p.M1I Substitution - Missense 3:52409876-52409876 - 2485307 COSM5702519 c.666_666delC p.Y223fs*8 Deletion - Frameshift 3:52406370-52406370 -