Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 11 8661912 8661912 single base substitution G A downstream_gene_variant ALL-US 11 8661912 8661912 single base substitution G A exon_variant ALL-US 11 8661912 8661912 single base substitution G A synonymous_variant L523L 1569C>T ALL-US 11 8661912 8661912 single base substitution G A synonymous_variant L525L 1575C>T BLCA-CN 11 8662011 8662011 single base substitution C T downstream_gene_variant BLCA-CN 11 8662011 8662011 single base substitution C T exon_variant BLCA-CN 11 8662011 8662011 single base substitution C T synonymous_variant Q490Q 1470G>A BLCA-CN 11 8662011 8662011 single base substitution C T synonymous_variant Q492Q 1476G>A BRCA-EU 11 8629015 8629015 single base substitution G A downstream_gene_variant BRCA-EU 11 8629105 8629105 single base substitution C A downstream_gene_variant BRCA-EU 11 8630113 8630113 single base substitution G A downstream_gene_variant BRCA-EU 11 8632049 8632049 single base substitution C T downstream_gene_variant BRCA-EU 11 8633404 8633404 insertion of <=200bp - A downstream_gene_variant BRCA-EU 11 8634103 8634103 single base substitution T A 3_prime_UTR_variant BRCA-EU 11 8634103 8634103 single base substitution T A downstream_gene_variant BRCA-EU 11 8638777 8638777 single base substitution G C 3_prime_UTR_variant BRCA-EU 11 8638777 8638777 single base substitution G C downstream_gene_variant BRCA-EU 11 8638777 8638777 single base substitution G C exon_variant BRCA-EU 11 8639427 8639427 single base substitution A T 3_prime_UTR_variant BRCA-EU 11 8639427 8639427 single base substitution A T downstream_gene_variant BRCA-EU 11 8639427 8639427 single base substitution A T exon_variant BRCA-EU 11 8640688 8640688 single base substitution C T exon_variant BRCA-EU 11 8640688 8640688 single base substitution C T intron_variant BRCA-EU 11 8640730 8640730 single base substitution G C exon_variant BRCA-EU 11 8640730 8640730 single base substitution G C intron_variant BRCA-EU 11 8642449 8642449 single base substitution C T intron_variant BRCA-EU 11 8642449 8642449 single base substitution C T upstream_gene_variant BRCA-EU 11 8644944 8644944 single base substitution A G intron_variant BRCA-EU 11 8644944 8644944 single base substitution A G upstream_gene_variant BRCA-EU 11 8646655 8646655 single base substitution C T exon_variant BRCA-EU 11 8646655 8646655 single base substitution C T missense_variant A664T 1990G>A BRCA-EU 11 8646655 8646655 single base substitution C T missense_variant A666T 1996G>A BRCA-EU 11 8646655 8646655 single base substitution C T upstream_gene_variant BRCA-EU 11 8648276 8648276 single base substitution G A intron_variant BRCA-EU 11 8648276 8648276 single base substitution G A upstream_gene_variant BRCA-EU 11 8649694 8649694 deletion of <=200bp T - intron_variant BRCA-EU 11 8650184 8650184 insertion of <=200bp - AG intron_variant BRCA-EU 11 8650867 8650867 single base substitution T A intron_variant BRCA-EU 11 8650946 8650946 single base substitution G C intron_variant BRCA-EU 11 8653072 8653072 single base substitution C G intron_variant BRCA-EU 11 8653887 8653887 single base substitution G C intron_variant BRCA-EU 11 8657779 8657779 single base substitution C A intron_variant BRCA-EU 11 8658332 8658332 single base substitution T C intron_variant BRCA-EU 11 8659337 8659337 single base substitution G C intron_variant BRCA-EU 11 8659456 8659456 single base substitution G T intron_variant BRCA-EU 11 8660441 8660441 single base substitution G T intron_variant BRCA-EU 11 8662371 8662371 single base substitution C T downstream_gene_variant BRCA-EU 11 8662371 8662371 single base substitution C T exon_variant BRCA-EU 11 8662371 8662371 single base substitution C T synonymous_variant E370E 1110G>A BRCA-EU 11 8662371 8662371 single base substitution C T synonymous_variant E372E 1116G>A BRCA-EU 11 8663653 8663653 single base substitution G T downstream_gene_variant BRCA-EU 11 8663653 8663653 single base substitution G T intron_variant BRCA-EU 11 8664332 8664332 single base substitution G C downstream_gene_variant BRCA-EU 11 8664332 8664332 single base substitution G C intron_variant BRCA-EU 11 8665122 8665122 single base substitution C A downstream_gene_variant BRCA-EU 11 8665122 8665122 single base substitution C A intron_variant BRCA-EU 11 8665180 8665180 single base substitution C T downstream_gene_variant BRCA-EU 11 8665180 8665180 single base substitution C T intron_variant BRCA-EU 11 8666882 8666882 single base substitution C A downstream_gene_variant BRCA-EU 11 8666882 8666882 single base substitution C A intron_variant BRCA-EU 11 8668268 8668268 single base substitution C G intron_variant BRCA-EU 11 8668746 8668746 single base substitution C T intron_variant BRCA-EU 11 8669600 8669600 single base substitution C G exon_variant BRCA-EU 11 8669600 8669600 single base substitution C G missense_variant Q106H 318G>C BRCA-EU 11 8669600 8669600 single base substitution C G missense_variant Q108H 324G>C BRCA-EU 11 8670064 8670064 single base substitution C A exon_variant BRCA-EU 11 8670064 8670064 single base substitution C A missense_variant L63F 189G>T BRCA-EU 11 8670064 8670064 single base substitution C A upstream_gene_variant BRCA-EU 11 8670230 8670230 single base substitution G C intron_variant BRCA-EU 11 8670230 8670230 single base substitution G C upstream_gene_variant BRCA-EU 11 8671164 8671164 single base substitution C G intron_variant BRCA-EU 11 8671164 8671164 single base substitution C G upstream_gene_variant BRCA-EU 11 8671315 8671315 single base substitution G C exon_variant BRCA-EU 11 8671315 8671315 single base substitution G C missense_variant F43L 129C>G BRCA-EU 11 8671315 8671315 single base substitution G C upstream_gene_variant BRCA-EU 11 8672030 8672030 single base substitution G C intron_variant BRCA-EU 11 8672030 8672030 single base substitution G C upstream_gene_variant BRCA-EU 11 8673126 8673126 deletion of <=200bp A - intron_variant BRCA-EU 11 8673126 8673126 deletion of <=200bp A - upstream_gene_variant BRCA-EU 11 8673226 8673226 single base substitution G C intron_variant BRCA-EU 11 8673226 8673226 single base substitution G C upstream_gene_variant BRCA-EU 11 8673318 8673318 single base substitution C A intron_variant BRCA-EU 11 8673318 8673318 single base substitution C A upstream_gene_variant BRCA-EU 11 8675342 8675346 deletion of <=200bp AAAAG - intron_variant BRCA-EU 11 8675541 8675541 single base substitution G C intron_variant BRCA-EU 11 8676801 8676801 insertion of <=200bp - A intron_variant BRCA-EU 11 8679750 8679750 single base substitution T C intron_variant BRCA-EU 11 8680194 8680194 single base substitution C T intron_variant BRCA-EU 11 8680459 8680475 deletion of <=200bp ACCAATTGTCCGTCACA - intron_variant BRCA-EU 11 8680459 8680475 deletion of <=200bp ACCAATTGTCCGTCACA - upstream_gene_variant BRCA-EU 11 8680730 8680730 single base substitution G A intron_variant BRCA-EU 11 8680730 8680730 single base substitution G A upstream_gene_variant BRCA-EU 11 8684855 8684855 insertion of <=200bp - C intron_variant BRCA-EU 11 8684855 8684855 insertion of <=200bp - C upstream_gene_variant BRCA-EU 11 8684892 8684892 single base substitution T A intron_variant BRCA-EU 11 8684892 8684892 single base substitution T A upstream_gene_variant BRCA-EU 11 8687049 8687049 single base substitution G A intron_variant BRCA-EU 11 8687312 8687312 single base substitution C T intron_variant BRCA-EU 11 8687592 8687592 single base substitution G C intron_variant BRCA-EU 11 8687787 8687787 single base substitution G A intron_variant BRCA-EU 11 8687903 8687903 insertion of <=200bp - G intron_variant BRCA-EU 11 8688419 8688419 single base substitution C T intron_variant BRCA-EU 11 8688646 8688646 single base substitution T A intron_variant BRCA-EU 11 8690960 8690960 single base substitution G A intron_variant BRCA-EU 11 8693045 8693045 single base substitution C T intron_variant BRCA-EU 11 8693118 8693118 deletion of <=200bp C - intron_variant BRCA-EU 11 8696984 8696984 single base substitution C T upstream_gene_variant BRCA-EU 11 8697002 8697002 single base substitution T G upstream_gene_variant BRCA-EU 11 8697024 8697024 single base substitution G T upstream_gene_variant BRCA-FR 11 8653874 8653874 single base substitution A G intron_variant BRCA-FR 11 8668268 8668268 single base substitution C G intron_variant BRCA-FR 11 8669600 8669600 single base substitution C G exon_variant BRCA-FR 11 8669600 8669600 single base substitution C G missense_variant Q106H 318G>C BRCA-FR 11 8669600 8669600 single base substitution C G missense_variant Q108H 324G>C BRCA-FR 11 8670230 8670230 single base substitution G C intron_variant BRCA-FR 11 8670230 8670230 single base substitution G C upstream_gene_variant BRCA-FR 11 8681916 8681916 single base substitution A T intron_variant BRCA-FR 11 8681916 8681916 single base substitution A T upstream_gene_variant BRCA-FR 11 8687049 8687049 single base substitution G A intron_variant BRCA-UK 11 8657779 8657779 single base substitution C A intron_variant BRCA-UK 11 8660242 8660242 single base substitution C G exon_variant BRCA-UK 11 8660242 8660242 single base substitution C G missense_variant D610H 1828G>C BRCA-UK 11 8660242 8660242 single base substitution C G missense_variant D612H 1834G>C BRCA-UK 11 8662645 8662645 single base substitution C T downstream_gene_variant BRCA-UK 11 8662645 8662645 single base substitution C T exon_variant BRCA-UK 11 8662645 8662645 single base substitution C T missense_variant G279E 836G>A BRCA-UK 11 8662645 8662645 single base substitution C T missense_variant G281E 842G>A BRCA-UK 11 8662661 8662661 single base substitution C G downstream_gene_variant BRCA-UK 11 8662661 8662661 single base substitution C G exon_variant BRCA-UK 11 8662661 8662661 single base substitution C G missense_variant D274H 820G>C BRCA-UK 11 8662661 8662661 single base substitution C G missense_variant D276H 826G>C BRCA-UK 11 8672315 8672315 single base substitution G A intron_variant BRCA-UK 11 8672315 8672315 single base substitution G A upstream_gene_variant BRCA-UK 11 8686703 8686703 single base substitution G C intron_variant BRCA-US 11 8639492 8639492 single base substitution C T downstream_gene_variant BRCA-US 11 8639492 8639492 single base substitution C T exon_variant BRCA-US 11 8639492 8639492 single base substitution C T stop_retained_variant *1217* 3650G>A BRCA-US 11 8639492 8639492 single base substitution C T stop_retained_variant *1246* 3737G>A BRCA-US 11 8642703 8642703 single base substitution C A exon_variant BRCA-US 11 8642703 8642703 single base substitution C A missense_variant A965S 2893G>T BRCA-US 11 8642703 8642703 single base substitution C A missense_variant A96S 286G>T BRCA-US 11 8642703 8642703 single base substitution C A missense_variant A994S 2980G>T BRCA-US 11 8642703 8642703 single base substitution C A upstream_gene_variant BRCA-US 11 8660338 8660338 single base substitution G A exon_variant BRCA-US 11 8660338 8660338 single base substitution G A stop_gained Q578* 1732C>T BRCA-US 11 8660338 8660338 single base substitution G A stop_gained Q580* 1738C>T BRCA-US 11 8662623 8662623 single base substitution G T downstream_gene_variant BRCA-US 11 8662623 8662623 single base substitution G T exon_variant BRCA-US 11 8662623 8662623 single base substitution G T synonymous_variant P286P 858C>A BRCA-US 11 8662623 8662623 single base substitution G T synonymous_variant P288P 864C>A BRCA-US 11 8670021 8670021 single base substitution C G exon_variant BRCA-US 11 8670021 8670021 single base substitution C G missense_variant E78Q 232G>C BRCA-US 11 8670021 8670021 single base substitution C G upstream_gene_variant BRCA-US 11 8693405 8693405 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 11 8693405 8693405 single base substitution G A exon_variant BTCA-JP 11 8640454 8640454 single base substitution T A exon_variant BTCA-JP 11 8640454 8640454 single base substitution T A missense_variant K1145M 3434A>T BTCA-JP 11 8640454 8640454 single base substitution T A missense_variant K1174M 3521A>T BTCA-JP 11 8640454 8640454 single base substitution T A missense_variant K276M 827A>T BTCA-JP 11 8641495 8641495 single base substitution T C intron_variant BTCA-JP 11 8641495 8641495 single base substitution T C upstream_gene_variant BTCA-JP 11 8662516 8662516 single base substitution T C downstream_gene_variant BTCA-JP 11 8662516 8662516 single base substitution T C exon_variant BTCA-JP 11 8662516 8662516 single base substitution T C missense_variant H322R 965A>G BTCA-JP 11 8662516 8662516 single base substitution T C missense_variant H324R 971A>G CLLE-ES 11 8629857 8629857 single base substitution C T downstream_gene_variant CLLE-ES 11 8631708 8631708 single base substitution G C downstream_gene_variant CLLE-ES 11 8636744 8636744 single base substitution G A 3_prime_UTR_variant CLLE-ES 11 8636744 8636744 single base substitution G A downstream_gene_variant CLLE-ES 11 8660917 8660917 single base substitution G A downstream_gene_variant CLLE-ES 11 8660917 8660917 single base substitution G A intron_variant CLLE-ES 11 8691547 8691547 single base substitution T C intron_variant CLLE-ES 11 8691576 8691576 single base substitution T A intron_variant COAD-US 11 8640308 8640308 single base substitution G A downstream_gene_variant COAD-US 11 8640308 8640308 single base substitution G A exon_variant COAD-US 11 8640308 8640308 single base substitution G A stop_gained R1194* 3580C>T COAD-US 11 8640308 8640308 single base substitution G A stop_gained R1223* 3667C>T COAD-US 11 8640932 8640932 single base substitution A C missense_variant Y1124D 3370T>G COAD-US 11 8640932 8640932 single base substitution A C missense_variant Y1153D 3457T>G COAD-US 11 8640932 8640932 single base substitution A C missense_variant Y255D 763T>G COAD-US 11 8640932 8640932 single base substitution A C splice_region_variant COAD-US 11 8640932 8640932 single base substitution A C upstream_gene_variant COAD-US 11 8640964 8640964 single base substitution C T exon_variant COAD-US 11 8640964 8640964 single base substitution C T missense_variant R1113H 3338G>A COAD-US 11 8640964 8640964 single base substitution C T missense_variant R1142H 3425G>A COAD-US 11 8640964 8640964 single base substitution C T missense_variant R244H 731G>A COAD-US 11 8640964 8640964 single base substitution C T upstream_gene_variant COAD-US 11 8642705 8642705 deletion of <=200bp G - exon_variant COAD-US 11 8642705 8642705 deletion of <=200bp G - frameshift_variant P95 COAD-US 11 8642705 8642705 deletion of <=200bp G - frameshift_variant P964 COAD-US 11 8642705 8642705 deletion of <=200bp G - frameshift_variant P993 COAD-US 11 8642705 8642705 deletion of <=200bp G - upstream_gene_variant COAD-US 11 8646520 8646520 single base substitution A G exon_variant COAD-US 11 8646520 8646520 single base substitution A G missense_variant F709L 2125T>C COAD-US 11 8646520 8646520 single base substitution A G missense_variant F711L 2131T>C COAD-US 11 8646520 8646520 single base substitution A G upstream_gene_variant COAD-US 11 8646536 8646536 single base substitution G A exon_variant COAD-US 11 8646536 8646536 single base substitution G A synonymous_variant S703S 2109C>T COAD-US 11 8646536 8646536 single base substitution G A synonymous_variant S705S 2115C>T COAD-US 11 8646536 8646536 single base substitution G A upstream_gene_variant COAD-US 11 8646763 8646763 single base substitution G C exon_variant COAD-US 11 8646763 8646763 single base substitution G C missense_variant L628V 1882C>G COAD-US 11 8646763 8646763 single base substitution G C missense_variant L630V 1888C>G COAD-US 11 8646763 8646763 single base substitution G C upstream_gene_variant COAD-US 11 8661839 8661839 insertion of <=200bp - C downstream_gene_variant COAD-US 11 8661839 8661839 insertion of <=200bp - C exon_variant COAD-US 11 8661839 8661839 insertion of <=200bp - C frameshift_variant Q548R? COAD-US 11 8661839 8661839 insertion of <=200bp - C frameshift_variant Q550R? COAD-US 11 8662090 8662090 single base substitution T C downstream_gene_variant COAD-US 11 8662090 8662090 single base substitution T C exon_variant COAD-US 11 8662090 8662090 single base substitution T C missense_variant H464R 1391A>G COAD-US 11 8662090 8662090 single base substitution T C missense_variant H466R 1397A>G COAD-US 11 8662516 8662516 single base substitution T C downstream_gene_variant COAD-US 11 8662516 8662516 single base substitution T C exon_variant COAD-US 11 8662516 8662516 single base substitution T C missense_variant H322R 965A>G COAD-US 11 8662516 8662516 single base substitution T C missense_variant H324R 971A>G COAD-US 11 8662600 8662600 single base substitution G A downstream_gene_variant COAD-US 11 8662600 8662600 single base substitution G A exon_variant COAD-US 11 8662600 8662600 single base substitution G A missense_variant P294L 881C>T COAD-US 11 8662600 8662600 single base substitution G A missense_variant P296L 887C>T COAD-US 11 8662649 8662649 single base substitution A G downstream_gene_variant COAD-US 11 8662649 8662649 single base substitution A G exon_variant COAD-US 11 8662649 8662649 single base substitution A G missense_variant Y278H 832T>C COAD-US 11 8662649 8662649 single base substitution A G missense_variant Y280H 838T>C COAD-US 11 8668082 8668082 single base substitution C T exon_variant COAD-US 11 8668082 8668082 single base substitution C T missense_variant R143K 428G>A COAD-US 11 8668082 8668082 single base substitution C T missense_variant R145K 434G>A COAD-US 11 8669577 8669577 single base substitution G A exon_variant COAD-US 11 8669577 8669577 single base substitution G A missense_variant T114I 341C>T COAD-US 11 8669577 8669577 single base substitution G A missense_variant T116I 347C>T COAD-US 11 8671369 8671369 single base substitution C T exon_variant COAD-US 11 8671369 8671369 single base substitution C T synonymous_variant L25L 75G>A COAD-US 11 8671369 8671369 single base substitution C T upstream_gene_variant COCA-CN 11 8632533 8632533 single base substitution T C downstream_gene_variant COCA-CN 11 8632758 8632758 single base substitution A C downstream_gene_variant COCA-CN 11 8639325 8639325 single base substitution G A 3_prime_UTR_variant COCA-CN 11 8639325 8639325 single base substitution G A downstream_gene_variant COCA-CN 11 8639325 8639325 single base substitution G A exon_variant COCA-CN 11 8639379 8639379 single base substitution C A 3_prime_UTR_variant COCA-CN 11 8639379 8639379 single base substitution C A downstream_gene_variant COCA-CN 11 8639379 8639379 single base substitution C A exon_variant COCA-CN 11 8640573 8640573 single base substitution G A exon_variant COCA-CN 11 8640573 8640573 single base substitution G A intron_variant COCA-CN 11 8641831 8641831 single base substitution G A intron_variant COCA-CN 11 8641831 8641831 single base substitution G A upstream_gene_variant COCA-CN 11 8643803 8643803 single base substitution G A intron_variant COCA-CN 11 8643803 8643803 single base substitution G A upstream_gene_variant COCA-CN 11 8644477 8644477 single base substitution C T intron_variant COCA-CN 11 8644477 8644477 single base substitution C T upstream_gene_variant COCA-CN 11 8661903 8661903 single base substitution T C downstream_gene_variant COCA-CN 11 8661903 8661903 single base substitution T C exon_variant COCA-CN 11 8661903 8661903 single base substitution T C synonymous_variant Q526Q 1578A>G COCA-CN 11 8661903 8661903 single base substitution T C synonymous_variant Q528Q 1584A>G COCA-CN 11 8662704 8662704 single base substitution A T downstream_gene_variant COCA-CN 11 8662704 8662704 single base substitution A T splice_region_variant COCA-CN 11 8664694 8664694 single base substitution C A downstream_gene_variant COCA-CN 11 8664694 8664694 single base substitution C A intron_variant COCA-CN 11 8664834 8664834 single base substitution T C downstream_gene_variant COCA-CN 11 8664834 8664834 single base substitution T C intron_variant COCA-CN 11 8664869 8664869 single base substitution C T downstream_gene_variant COCA-CN 11 8664869 8664869 single base substitution C T intron_variant COCA-CN 11 8665964 8665964 single base substitution T C downstream_gene_variant COCA-CN 11 8665964 8665964 single base substitution T C exon_variant COCA-CN 11 8665964 8665964 single base substitution T C intron_variant COCA-CN 11 8669490 8669490 single base substitution C T intron_variant COCA-CN 11 8673303 8673303 single base substitution A C intron_variant COCA-CN 11 8673303 8673303 single base substitution A C upstream_gene_variant COCA-CN 11 8691554 8691554 single base substitution G T intron_variant COCA-CN 11 8693959 8693959 single base substitution G T upstream_gene_variant EOPC-DE 11 8693297 8693297 single base substitution T A intron_variant ESAD-UK 11 8629052 8629052 single base substitution T C downstream_gene_variant ESAD-UK 11 8629200 8629200 single base substitution A C downstream_gene_variant ESAD-UK 11 8629351 8629351 single base substitution A C downstream_gene_variant ESAD-UK 11 8629737 8629737 single base substitution C T downstream_gene_variant ESAD-UK 11 8629738 8629738 single base substitution C T downstream_gene_variant ESAD-UK 11 8630334 8630334 single base substitution G A downstream_gene_variant ESAD-UK 11 8630893 8630893 single base substitution A C downstream_gene_variant ESAD-UK 11 8632757 8632758 deletion of <=200bp CA - downstream_gene_variant ESAD-UK 11 8632827 8632827 single base substitution C T downstream_gene_variant ESAD-UK 11 8632856 8632856 single base substitution T C downstream_gene_variant ESAD-UK 11 8633399 8633399 single base substitution G A downstream_gene_variant ESAD-UK 11 8633428 8633428 single base substitution G T downstream_gene_variant ESAD-UK 11 8633431 8633431 single base substitution G T downstream_gene_variant ESAD-UK 11 8637006 8637006 single base substitution A C 3_prime_UTR_variant ESAD-UK 11 8637006 8637006 single base substitution A C downstream_gene_variant ESAD-UK 11 8639519 8639519 single base substitution C T downstream_gene_variant ESAD-UK 11 8639519 8639519 single base substitution C T exon_variant ESAD-UK 11 8639519 8639519 single base substitution C T missense_variant R1208H 3623G>A ESAD-UK 11 8639519 8639519 single base substitution C T missense_variant R1237H 3710G>A ESAD-UK 11 8640548 8640548 single base substitution C T exon_variant ESAD-UK 11 8640548 8640548 single base substitution C T intron_variant ESAD-UK 11 8640963 8640963 single base substitution G A exon_variant ESAD-UK 11 8640963 8640963 single base substitution G A synonymous_variant R1113R 3339C>T ESAD-UK 11 8640963 8640963 single base substitution G A synonymous_variant R1142R 3426C>T ESAD-UK 11 8640963 8640963 single base substitution G A synonymous_variant R244R 732C>T ESAD-UK 11 8640963 8640963 single base substitution G A upstream_gene_variant ESAD-UK 11 8641171 8641171 single base substitution G A intron_variant ESAD-UK 11 8641171 8641171 single base substitution G A upstream_gene_variant ESAD-UK 11 8642019 8642019 single base substitution G A exon_variant ESAD-UK 11 8642019 8642019 single base substitution G A missense_variant P1040S 3118C>T ESAD-UK 11 8642019 8642019 single base substitution G A missense_variant P1069S 3205C>T ESAD-UK 11 8642019 8642019 single base substitution G A missense_variant P171S 511C>T ESAD-UK 11 8642019 8642019 single base substitution G A upstream_gene_variant ESAD-UK 11 8645042 8645042 single base substitution C T intron_variant ESAD-UK 11 8645042 8645042 single base substitution C T upstream_gene_variant ESAD-UK 11 8645761 8645761 single base substitution C T intron_variant ESAD-UK 11 8645761 8645761 single base substitution C T upstream_gene_variant ESAD-UK 11 8646758 8646758 single base substitution G A exon_variant ESAD-UK 11 8646758 8646758 single base substitution G A synonymous_variant S629S 1887C>T ESAD-UK 11 8646758 8646758 single base substitution G A synonymous_variant S631S 1893C>T ESAD-UK 11 8646758 8646758 single base substitution G A upstream_gene_variant ESAD-UK 11 8647719 8647719 single base substitution G A intron_variant ESAD-UK 11 8647719 8647719 single base substitution G A upstream_gene_variant ESAD-UK 11 8647902 8647902 insertion of <=200bp - T intron_variant ESAD-UK 11 8647902 8647902 insertion of <=200bp - T upstream_gene_variant ESAD-UK 11 8648269 8648269 single base substitution G A intron_variant ESAD-UK 11 8648269 8648269 single base substitution G A upstream_gene_variant ESAD-UK 11 8648553 8648553 insertion of <=200bp - T intron_variant ESAD-UK 11 8648553 8648553 insertion of <=200bp - T upstream_gene_variant ESAD-UK 11 8652268 8652268 single base substitution C G intron_variant ESAD-UK 11 8659556 8659556 single base substitution G A intron_variant ESAD-UK 11 8661396 8661396 single base substitution C T downstream_gene_variant ESAD-UK 11 8661396 8661396 single base substitution C T intron_variant ESAD-UK 11 8668237 8668237 deletion of <=200bp A - intron_variant ESAD-UK 11 8671229 8671229 single base substitution T C intron_variant ESAD-UK 11 8671229 8671229 single base substitution T C upstream_gene_variant ESAD-UK 11 8674675 8674675 single base substitution C T intron_variant ESAD-UK 11 8676238 8676238 single base substitution C T intron_variant ESAD-UK 11 8676465 8676465 single base substitution C T intron_variant ESAD-UK 11 8678034 8678034 single base substitution A C intron_variant ESAD-UK 11 8679501 8679501 single base substitution G A intron_variant ESAD-UK 11 8680726 8680726 single base substitution G C intron_variant ESAD-UK 11 8680726 8680726 single base substitution G C upstream_gene_variant ESAD-UK 11 8681960 8681960 single base substitution A G intron_variant ESAD-UK 11 8681960 8681960 single base substitution A G upstream_gene_variant ESAD-UK 11 8682456 8682456 single base substitution T C intron_variant ESAD-UK 11 8682456 8682456 single base substitution T C upstream_gene_variant ESAD-UK 11 8684023 8684023 single base substitution G A intron_variant ESAD-UK 11 8684023 8684023 single base substitution G A upstream_gene_variant ESAD-UK 11 8686370 8686370 single base substitution C T intron_variant ESAD-UK 11 8687313 8687313 single base substitution G A intron_variant ESAD-UK 11 8689587 8689587 single base substitution A T intron_variant ESAD-UK 11 8690843 8690843 single base substitution T A intron_variant ESAD-UK 11 8691669 8691669 single base substitution C T intron_variant ESAD-UK 11 8693814 8693814 single base substitution C G upstream_gene_variant ESAD-UK 11 8694721 8694721 single base substitution C T upstream_gene_variant ESAD-UK 11 8697023 8697023 single base substitution A T upstream_gene_variant KIRC-US 11 8662083 8662083 single base substitution T G downstream_gene_variant KIRC-US 11 8662083 8662083 single base substitution T G exon_variant KIRC-US 11 8662083 8662083 single base substitution T G synonymous_variant P466P 1398A>C KIRC-US 11 8662083 8662083 single base substitution T G synonymous_variant P468P 1404A>C KIRP-US 11 8639493 8639493 single base substitution A G downstream_gene_variant KIRP-US 11 8639493 8639493 single base substitution A G exon_variant KIRP-US 11 8639493 8639493 single base substitution A G stop_lost *1217R 3649T>C KIRP-US 11 8639493 8639493 single base substitution A G stop_lost *1246R 3736T>C LAML-KR 11 8641104 8641104 single base substitution A G intron_variant LAML-KR 11 8641104 8641104 single base substitution A G upstream_gene_variant LAML-KR 11 8671547 8671547 single base substitution G A intron_variant LAML-KR 11 8671547 8671547 single base substitution G A upstream_gene_variant LAML-KR 11 8697388 8697388 single base substitution C T upstream_gene_variant LICA-CN 11 8641629 8641629 single base substitution T A exon_variant LICA-CN 11 8641629 8641629 single base substitution T A missense_variant S1063C 3187A>T LICA-CN 11 8641629 8641629 single base substitution T A missense_variant S1092C 3274A>T LICA-CN 11 8641629 8641629 single base substitution T A missense_variant S194C 580A>T LICA-CN 11 8641629 8641629 single base substitution T A upstream_gene_variant LICA-CN 11 8642052 8642052 single base substitution C T exon_variant LICA-CN 11 8642052 8642052 single base substitution C T missense_variant A1029T 3085G>A LICA-CN 11 8642052 8642052 single base substitution C T missense_variant A1058T 3172G>A LICA-CN 11 8642052 8642052 single base substitution C T missense_variant A160T 478G>A LICA-CN 11 8642052 8642052 single base substitution C T upstream_gene_variant LICA-CN 11 8662205 8662205 single base substitution T A downstream_gene_variant LICA-CN 11 8662205 8662205 single base substitution T A exon_variant LICA-CN 11 8662205 8662205 single base substitution T A missense_variant T426S 1276A>T LICA-CN 11 8662205 8662205 single base substitution T A missense_variant T428S 1282A>T LICA-FR 11 8629970 8629970 single base substitution T C downstream_gene_variant LICA-FR 11 8641740 8641740 single base substitution G A intron_variant LICA-FR 11 8641740 8641740 single base substitution G A upstream_gene_variant LICA-FR 11 8642118 8642118 single base substitution C T missense_variant G1007R 3019G>A LICA-FR 11 8642118 8642118 single base substitution C T missense_variant G1036R 3106G>A LICA-FR 11 8642118 8642118 single base substitution C T missense_variant G138R 412G>A LICA-FR 11 8642118 8642118 single base substitution C T splice_region_variant LICA-FR 11 8642118 8642118 single base substitution C T upstream_gene_variant LICA-FR 11 8648366 8648366 single base substitution C A intron_variant LICA-FR 11 8648366 8648366 single base substitution C A upstream_gene_variant LICA-FR 11 8660323 8660323 single base substitution C T exon_variant LICA-FR 11 8660323 8660323 single base substitution C T missense_variant A583T 1747G>A LICA-FR 11 8660323 8660323 single base substitution C T missense_variant A585T 1753G>A LICA-FR 11 8661840 8661840 single base substitution C T downstream_gene_variant LICA-FR 11 8661840 8661840 single base substitution C T exon_variant LICA-FR 11 8661840 8661840 single base substitution C T synonymous_variant G547G 1641G>A LICA-FR 11 8661840 8661840 single base substitution C T synonymous_variant G549G 1647G>A LICA-FR 11 8662329 8662329 single base substitution C A downstream_gene_variant LICA-FR 11 8662329 8662329 single base substitution C A exon_variant LICA-FR 11 8662329 8662329 single base substitution C A missense_variant W384C 1152G>T LICA-FR 11 8662329 8662329 single base substitution C A missense_variant W386C 1158G>T LICA-FR 11 8662668 8662668 single base substitution G T downstream_gene_variant LICA-FR 11 8662668 8662668 single base substitution G T exon_variant LICA-FR 11 8662668 8662668 single base substitution G T synonymous_variant S271S 813C>A LICA-FR 11 8662668 8662668 single base substitution G T synonymous_variant S273S 819C>A LICA-FR 11 8668033 8668033 single base substitution C T exon_variant LICA-FR 11 8668033 8668033 single base substitution C T synonymous_variant E159E 477G>A LICA-FR 11 8668033 8668033 single base substitution C T synonymous_variant E161E 483G>A LICA-FR 11 8671361 8671361 single base substitution G C exon_variant LICA-FR 11 8671361 8671361 single base substitution G C missense_variant S28C 83C>G LICA-FR 11 8671361 8671361 single base substitution G C upstream_gene_variant LICA-FR 11 8687468 8687468 single base substitution C T intron_variant LICA-FR 11 8690422 8690422 single base substitution C T intron_variant LICA-FR 11 8694485 8694486 deletion of <=200bp TT - upstream_gene_variant LIHC-US 11 8642090 8642090 single base substitution C T exon_variant LIHC-US 11 8642090 8642090 single base substitution C T missense_variant S1016N 3047G>A LIHC-US 11 8642090 8642090 single base substitution C T missense_variant S1045N 3134G>A LIHC-US 11 8642090 8642090 single base substitution C T missense_variant S147N 440G>A LIHC-US 11 8642090 8642090 single base substitution C T upstream_gene_variant LIHC-US 11 8662439 8662439 single base substitution G T downstream_gene_variant LIHC-US 11 8662439 8662439 single base substitution G T exon_variant LIHC-US 11 8662439 8662439 single base substitution G T missense_variant P348T 1042C>A LIHC-US 11 8662439 8662439 single base substitution G T missense_variant P350T 1048C>A LIHC-US 11 8664672 8664672 single base substitution A G downstream_gene_variant LIHC-US 11 8664672 8664672 single base substitution A G missense_variant I222T 665T>C LIHC-US 11 8664672 8664672 single base substitution A G missense_variant I224T 671T>C LIHC-US 11 8664672 8664672 single base substitution A G splice_region_variant LINC-JP 11 8628797 8628797 single base substitution A T downstream_gene_variant LINC-JP 11 8640739 8640739 single base substitution C T exon_variant LINC-JP 11 8640739 8640739 single base substitution C T intron_variant LINC-JP 11 8655068 8655068 single base substitution A T intron_variant LINC-JP 11 8657550 8657550 single base substitution A C intron_variant LINC-JP 11 8662547 8662547 single base substitution C T downstream_gene_variant LINC-JP 11 8662547 8662547 single base substitution C T exon_variant LINC-JP 11 8662547 8662547 single base substitution C T missense_variant A312T 934G>A LINC-JP 11 8662547 8662547 single base substitution C T missense_variant A314T 940G>A LINC-JP 11 8667771 8667771 single base substitution C T intron_variant LINC-JP 11 8671249 8671249 single base substitution A T intron_variant LINC-JP 11 8671249 8671249 single base substitution A T upstream_gene_variant LINC-JP 11 8675335 8675335 deletion of <=200bp A - intron_variant LINC-JP 11 8677164 8677164 single base substitution T C intron_variant LIRI-JP 11 8629480 8629480 single base substitution T C downstream_gene_variant LIRI-JP 11 8631960 8631960 single base substitution A G downstream_gene_variant LIRI-JP 11 8632849 8632849 single base substitution A G downstream_gene_variant LIRI-JP 11 8634928 8634928 single base substitution G A 3_prime_UTR_variant LIRI-JP 11 8634928 8634928 single base substitution G A downstream_gene_variant LIRI-JP 11 8635593 8635593 single base substitution G T 3_prime_UTR_variant LIRI-JP 11 8635593 8635593 single base substitution G T downstream_gene_variant LIRI-JP 11 8637177 8637177 single base substitution C T 3_prime_UTR_variant LIRI-JP 11 8637177 8637177 single base substitution C T downstream_gene_variant LIRI-JP 11 8637177 8637177 single base substitution C T exon_variant LIRI-JP 11 8638143 8638143 single base substitution T G 3_prime_UTR_variant LIRI-JP 11 8638143 8638143 single base substitution T G downstream_gene_variant LIRI-JP 11 8638143 8638143 single base substitution T G exon_variant LIRI-JP 11 8638599 8638599 single base substitution G A 3_prime_UTR_variant LIRI-JP 11 8638599 8638599 single base substitution G A downstream_gene_variant LIRI-JP 11 8638599 8638599 single base substitution G A exon_variant LIRI-JP 11 8640572 8640572 single base substitution C T exon_variant LIRI-JP 11 8640572 8640572 single base substitution C T intron_variant LIRI-JP 11 8640762 8640762 single base substitution G T exon_variant LIRI-JP 11 8640762 8640762 single base substitution G T intron_variant LIRI-JP 11 8642466 8642466 single base substitution C G intron_variant LIRI-JP 11 8642466 8642466 single base substitution C G upstream_gene_variant LIRI-JP 11 8643286 8643286 single base substitution G A exon_variant LIRI-JP 11 8643286 8643286 single base substitution G A missense_variant P37L 110C>T LIRI-JP 11 8643286 8643286 single base substitution G A missense_variant P878L 2633C>T LIRI-JP 11 8643286 8643286 single base substitution G A missense_variant P907L 2720C>T LIRI-JP 11 8643286 8643286 single base substitution G A upstream_gene_variant LIRI-JP 11 8644324 8644324 single base substitution A T intron_variant LIRI-JP 11 8644324 8644324 single base substitution A T upstream_gene_variant LIRI-JP 11 8645778 8645778 single base substitution T C intron_variant LIRI-JP 11 8645778 8645778 single base substitution T C upstream_gene_variant LIRI-JP 11 8647844 8647844 single base substitution T C intron_variant LIRI-JP 11 8647844 8647844 single base substitution T C upstream_gene_variant LIRI-JP 11 8648828 8648828 single base substitution C T intron_variant LIRI-JP 11 8648828 8648828 single base substitution C T upstream_gene_variant LIRI-JP 11 8650711 8650711 single base substitution G T intron_variant LIRI-JP 11 8650748 8650748 single base substitution C T intron_variant LIRI-JP 11 8651221 8651221 single base substitution G A intron_variant LIRI-JP 11 8652762 8652762 single base substitution A G intron_variant LIRI-JP 11 8653653 8653653 single base substitution G A intron_variant LIRI-JP 11 8655493 8655493 single base substitution T C intron_variant LIRI-JP 11 8656874 8656874 single base substitution T C intron_variant LIRI-JP 11 8659421 8659421 single base substitution C T intron_variant LIRI-JP 11 8661293 8661294 deletion of <=200bp TA - downstream_gene_variant LIRI-JP 11 8661293 8661294 deletion of <=200bp TA - intron_variant LIRI-JP 11 8662769 8662769 single base substitution T C downstream_gene_variant LIRI-JP 11 8662769 8662769 single base substitution T C intron_variant LIRI-JP 11 8663298 8663298 single base substitution G A downstream_gene_variant LIRI-JP 11 8663298 8663298 single base substitution G A intron_variant LIRI-JP 11 8663529 8663529 single base substitution T C downstream_gene_variant LIRI-JP 11 8663529 8663529 single base substitution T C intron_variant LIRI-JP 11 8665393 8665393 single base substitution C A downstream_gene_variant LIRI-JP 11 8665393 8665393 single base substitution C A intron_variant LIRI-JP 11 8665669 8665669 single base substitution G A downstream_gene_variant LIRI-JP 11 8665669 8665669 single base substitution G A intron_variant LIRI-JP 11 8666905 8666905 single base substitution A C downstream_gene_variant LIRI-JP 11 8666905 8666905 single base substitution A C intron_variant LIRI-JP 11 8667002 8667002 single base substitution T A downstream_gene_variant LIRI-JP 11 8667002 8667002 single base substitution T A intron_variant LIRI-JP 11 8668132 8668132 single base substitution A G intron_variant LIRI-JP 11 8670470 8670470 single base substitution T C intron_variant LIRI-JP 11 8670470 8670470 single base substitution T C upstream_gene_variant LIRI-JP 11 8672106 8672106 single base substitution C T intron_variant LIRI-JP 11 8672106 8672106 single base substitution C T upstream_gene_variant LIRI-JP 11 8672439 8672439 single base substitution G A intron_variant LIRI-JP 11 8672439 8672439 single base substitution G A upstream_gene_variant LIRI-JP 11 8672489 8672489 single base substitution G T intron_variant LIRI-JP 11 8672489 8672489 single base substitution G T upstream_gene_variant LIRI-JP 11 8675456 8675456 single base substitution C T intron_variant LIRI-JP 11 8683066 8683066 single base substitution C T intron_variant LIRI-JP 11 8683066 8683066 single base substitution C T upstream_gene_variant LIRI-JP 11 8685794 8685794 single base substitution T C intron_variant LIRI-JP 11 8686391 8686391 single base substitution A T intron_variant LIRI-JP 11 8686560 8686560 single base substitution C T intron_variant LIRI-JP 11 8686950 8686950 single base substitution G A intron_variant LIRI-JP 11 8688654 8688654 single base substitution C A intron_variant LIRI-JP 11 8688758 8688758 single base substitution C T intron_variant LIRI-JP 11 8688793 8688793 single base substitution T C intron_variant LIRI-JP 11 8690289 8690289 single base substitution C T intron_variant LIRI-JP 11 8692534 8692534 single base substitution T C intron_variant LIRI-JP 11 8692947 8692947 single base substitution C T intron_variant LIRI-JP 11 8694256 8694256 single base substitution C T upstream_gene_variant LIRI-JP 11 8694829 8694829 single base substitution T C upstream_gene_variant LIRI-JP 11 8695060 8695060 single base substitution C A upstream_gene_variant LIRI-JP 11 8695636 8695636 single base substitution T C upstream_gene_variant LIRI-JP 11 8696386 8696386 single base substitution T G upstream_gene_variant LIRI-JP 11 8697421 8697421 single base substitution G C upstream_gene_variant LIRI-JP 11 8698229 8698229 single base substitution C T upstream_gene_variant LUSC-KR 11 8632588 8632588 single base substitution C A downstream_gene_variant LUSC-KR 11 8634408 8634408 single base substitution G A 3_prime_UTR_variant LUSC-KR 11 8634408 8634408 single base substitution G A downstream_gene_variant LUSC-KR 11 8635908 8635908 single base substitution A G 3_prime_UTR_variant LUSC-KR 11 8635908 8635908 single base substitution A G downstream_gene_variant LUSC-KR 11 8636350 8636350 single base substitution A G 3_prime_UTR_variant LUSC-KR 11 8636350 8636350 single base substitution A G downstream_gene_variant LUSC-KR 11 8636955 8636955 single base substitution T A 3_prime_UTR_variant LUSC-KR 11 8636955 8636955 single base substitution T A downstream_gene_variant LUSC-KR 11 8637480 8637480 single base substitution T A 3_prime_UTR_variant LUSC-KR 11 8637480 8637480 single base substitution T A downstream_gene_variant LUSC-KR 11 8637480 8637480 single base substitution T A exon_variant LUSC-KR 11 8638950 8638950 single base substitution C A 3_prime_UTR_variant LUSC-KR 11 8638950 8638950 single base substitution C A downstream_gene_variant LUSC-KR 11 8638950 8638950 single base substitution C A exon_variant LUSC-KR 11 8639331 8639331 single base substitution C T 3_prime_UTR_variant LUSC-KR 11 8639331 8639331 single base substitution C T downstream_gene_variant LUSC-KR 11 8639331 8639331 single base substitution C T exon_variant LUSC-KR 11 8641739 8641739 single base substitution T G intron_variant LUSC-KR 11 8641739 8641739 single base substitution T G upstream_gene_variant LUSC-KR 11 8643217 8643217 single base substitution G C exon_variant LUSC-KR 11 8643217 8643217 single base substitution G C missense_variant T60S 179C>G LUSC-KR 11 8643217 8643217 single base substitution G C missense_variant T901S 2702C>G LUSC-KR 11 8643217 8643217 single base substitution G C missense_variant T930S 2789C>G LUSC-KR 11 8643217 8643217 single base substitution G C upstream_gene_variant LUSC-KR 11 8646694 8646694 single base substitution C G exon_variant LUSC-KR 11 8646694 8646694 single base substitution C G missense_variant E651Q 1951G>C LUSC-KR 11 8646694 8646694 single base substitution C G missense_variant E653Q 1957G>C LUSC-KR 11 8646694 8646694 single base substitution C G upstream_gene_variant LUSC-KR 11 8650486 8650486 single base substitution C G intron_variant LUSC-KR 11 8650498 8650498 single base substitution A C intron_variant LUSC-KR 11 8650872 8650872 single base substitution C A intron_variant LUSC-KR 11 8651695 8651695 single base substitution C T intron_variant LUSC-KR 11 8651866 8651866 single base substitution C G intron_variant LUSC-KR 11 8654822 8654822 single base substitution T C intron_variant LUSC-KR 11 8655067 8655067 single base substitution C A intron_variant LUSC-KR 11 8656416 8656416 single base substitution C T intron_variant LUSC-KR 11 8661751 8661751 single base substitution C T downstream_gene_variant LUSC-KR 11 8661751 8661751 single base substitution C T intron_variant LUSC-KR 11 8663360 8663360 single base substitution G C downstream_gene_variant LUSC-KR 11 8663360 8663360 single base substitution G C intron_variant LUSC-KR 11 8663479 8663479 single base substitution G T downstream_gene_variant LUSC-KR 11 8663479 8663479 single base substitution G T intron_variant LUSC-KR 11 8669694 8669694 single base substitution C T intron_variant LUSC-KR 11 8669694 8669694 single base substitution C T upstream_gene_variant LUSC-KR 11 8671547 8671547 single base substitution G A intron_variant LUSC-KR 11 8671547 8671547 single base substitution G A upstream_gene_variant LUSC-KR 11 8673705 8673705 single base substitution C T intron_variant LUSC-KR 11 8673705 8673705 single base substitution C T upstream_gene_variant LUSC-KR 11 8677978 8677978 single base substitution C A intron_variant LUSC-KR 11 8680155 8680155 single base substitution C T intron_variant LUSC-KR 11 8680746 8680746 single base substitution C A intron_variant LUSC-KR 11 8680746 8680746 single base substitution C A upstream_gene_variant LUSC-KR 11 8682658 8682658 single base substitution A T intron_variant LUSC-KR 11 8682658 8682658 single base substitution A T upstream_gene_variant LUSC-KR 11 8683245 8683245 single base substitution T C intron_variant LUSC-KR 11 8683245 8683245 single base substitution T C upstream_gene_variant LUSC-KR 11 8687985 8687985 single base substitution T C intron_variant MALY-DE 11 8633428 8633428 single base substitution G T downstream_gene_variant MALY-DE 11 8664654 8664654 single base substitution C T downstream_gene_variant MALY-DE 11 8664654 8664654 single base substitution C T exon_variant MALY-DE 11 8664654 8664654 single base substitution C T missense_variant R228Q 683G>A MALY-DE 11 8664654 8664654 single base substitution C T missense_variant R230Q 689G>A MALY-DE 11 8667747 8667747 single base substitution A T intron_variant MALY-DE 11 8696834 8696834 single base substitution G A upstream_gene_variant MALY-DE 11 8698345 8698345 single base substitution G A upstream_gene_variant MELA-AU 11 8628826 8628826 single base substitution C T downstream_gene_variant MELA-AU 11 8629264 8629265 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 11 8629393 8629393 single base substitution G A downstream_gene_variant MELA-AU 11 8629801 8629801 single base substitution G A downstream_gene_variant MELA-AU 11 8630224 8630224 single base substitution C T downstream_gene_variant MELA-AU 11 8630856 8630856 single base substitution G A downstream_gene_variant MELA-AU 11 8631043 8631043 single base substitution A G downstream_gene_variant MELA-AU 11 8631044 8631044 single base substitution T A downstream_gene_variant MELA-AU 11 8631058 8631058 single base substitution A G downstream_gene_variant MELA-AU 11 8631112 8631112 single base substitution G A downstream_gene_variant MELA-AU 11 8631341 8631341 single base substitution G A downstream_gene_variant MELA-AU 11 8631551 8631551 single base substitution G A downstream_gene_variant MELA-AU 11 8631883 8631883 single base substitution A T downstream_gene_variant MELA-AU 11 8631959 8631959 single base substitution G A downstream_gene_variant MELA-AU 11 8632154 8632154 single base substitution G A downstream_gene_variant MELA-AU 11 8632767 8632767 single base substitution A C downstream_gene_variant MELA-AU 11 8633109 8633109 single base substitution A G downstream_gene_variant MELA-AU 11 8633117 8633117 single base substitution G A downstream_gene_variant MELA-AU 11 8633767 8633767 single base substitution G A 3_prime_UTR_variant MELA-AU 11 8633767 8633767 single base substitution G A downstream_gene_variant MELA-AU 11 8633892 8633892 single base substitution G A 3_prime_UTR_variant MELA-AU 11 8633892 8633892 single base substitution G A downstream_gene_variant MELA-AU 11 8633927 8633927 single base substitution G A 3_prime_UTR_variant MELA-AU 11 8633927 8633927 single base substitution G A downstream_gene_variant MELA-AU 11 8634513 8634513 single base substitution G A 3_prime_UTR_variant MELA-AU 11 8634513 8634513 single base substitution G A downstream_gene_variant MELA-AU 11 8634639 8634639 single base substitution G A 3_prime_UTR_variant MELA-AU 11 8634639 8634639 single base substitution G A downstream_gene_variant MELA-AU 11 8634649 8634649 single base substitution G A 3_prime_UTR_variant MELA-AU 11 8634649 8634649 single base substitution G A downstream_gene_variant MELA-AU 11 8635051 8635051 single base substitution G A 3_prime_UTR_variant MELA-AU 11 8635051 8635051 single base substitution G A downstream_gene_variant MELA-AU 11 8635134 8635134 single base substitution G A 3_prime_UTR_variant MELA-AU 11 8635134 8635134 single base substitution G A downstream_gene_variant MELA-AU 11 8635429 8635429 single base substitution G A 3_prime_UTR_variant MELA-AU 11 8635429 8635429 single base substitution G A downstream_gene_variant MELA-AU 11 8635904 8635904 single base substitution A G 3_prime_UTR_variant MELA-AU 11 8635904 8635904 single base substitution A G downstream_gene_variant MELA-AU 11 8636840 8636840 single base substitution G T 3_prime_UTR_variant MELA-AU 11 8636840 8636840 single base substitution G T downstream_gene_variant MELA-AU 11 8637071 8637071 single base substitution G A 3_prime_UTR_variant MELA-AU 11 8637071 8637071 single base substitution G A downstream_gene_variant MELA-AU 11 8637166 8637166 single base substitution G A 3_prime_UTR_variant MELA-AU 11 8637166 8637166 single base substitution G A downstream_gene_variant MELA-AU 11 8637166 8637166 single base substitution G A exon_variant MELA-AU 11 8637515 8637515 single base substitution G A 3_prime_UTR_variant MELA-AU 11 8637515 8637515 single base substitution G A downstream_gene_variant MELA-AU 11 8637515 8637515 single base substitution G A exon_variant MELA-AU 11 8638301 8638302 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 11 8638301 8638302 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 11 8638301 8638302 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 11 8638599 8638599 single base substitution G A 3_prime_UTR_variant MELA-AU 11 8638599 8638599 single base substitution G A downstream_gene_variant MELA-AU 11 8638599 8638599 single base substitution G A exon_variant MELA-AU 11 8638669 8638669 single base substitution G A 3_prime_UTR_variant MELA-AU 11 8638669 8638669 single base substitution G A downstream_gene_variant MELA-AU 11 8638669 8638669 single base substitution G A exon_variant MELA-AU 11 8639346 8639346 single base substitution G A 3_prime_UTR_variant MELA-AU 11 8639346 8639346 single base substitution G A downstream_gene_variant MELA-AU 11 8639346 8639346 single base substitution G A exon_variant MELA-AU 11 8639499 8639499 single base substitution G A downstream_gene_variant MELA-AU 11 8639499 8639499 single base substitution G A exon_variant MELA-AU 11 8639499 8639499 single base substitution G A stop_gained Q1215* 3643C>T MELA-AU 11 8639499 8639499 single base substitution G A stop_gained Q1244* 3730C>T MELA-AU 11 8639936 8639936 single base substitution G A downstream_gene_variant MELA-AU 11 8639936 8639936 single base substitution G A intron_variant MELA-AU 11 8640162 8640162 single base substitution G A downstream_gene_variant MELA-AU 11 8640162 8640162 single base substitution G A intron_variant MELA-AU 11 8640528 8640528 single base substitution G A exon_variant MELA-AU 11 8640528 8640528 single base substitution G A intron_variant MELA-AU 11 8640853 8640853 single base substitution A G intron_variant MELA-AU 11 8640853 8640853 single base substitution A G upstream_gene_variant MELA-AU 11 8641153 8641153 single base substitution G A intron_variant MELA-AU 11 8641153 8641153 single base substitution G A upstream_gene_variant MELA-AU 11 8641193 8641193 single base substitution A T intron_variant MELA-AU 11 8641193 8641193 single base substitution A T upstream_gene_variant MELA-AU 11 8641854 8641854 single base substitution C T intron_variant MELA-AU 11 8641854 8641854 single base substitution C T upstream_gene_variant MELA-AU 11 8642078 8642078 single base substitution G A exon_variant MELA-AU 11 8642078 8642078 single base substitution G A missense_variant P1020L 3059C>T MELA-AU 11 8642078 8642078 single base substitution G A missense_variant P1049L 3146C>T MELA-AU 11 8642078 8642078 single base substitution G A missense_variant P151L 452C>T MELA-AU 11 8642078 8642078 single base substitution G A upstream_gene_variant MELA-AU 11 8642198 8642198 single base substitution G A intron_variant MELA-AU 11 8642198 8642198 single base substitution G A upstream_gene_variant MELA-AU 11 8642515 8642515 single base substitution G A intron_variant MELA-AU 11 8642515 8642515 single base substitution G A upstream_gene_variant MELA-AU 11 8642582 8642582 single base substitution G A exon_variant MELA-AU 11 8642582 8642582 single base substitution G A missense_variant P1005L 3014C>T MELA-AU 11 8642582 8642582 single base substitution G A missense_variant P1034L 3101C>T MELA-AU 11 8642582 8642582 single base substitution G A missense_variant P136L 407C>T MELA-AU 11 8642582 8642582 single base substitution G A upstream_gene_variant MELA-AU 11 8642925 8642925 single base substitution G A intron_variant MELA-AU 11 8642925 8642925 single base substitution G A upstream_gene_variant MELA-AU 11 8643461 8643461 single base substitution A T intron_variant MELA-AU 11 8643461 8643461 single base substitution A T upstream_gene_variant MELA-AU 11 8643557 8643557 single base substitution G A intron_variant MELA-AU 11 8643557 8643557 single base substitution G A upstream_gene_variant MELA-AU 11 8643665 8643665 single base substitution C T intron_variant MELA-AU 11 8643665 8643665 single base substitution C T upstream_gene_variant MELA-AU 11 8644892 8644892 single base substitution G A intron_variant MELA-AU 11 8644892 8644892 single base substitution G A upstream_gene_variant MELA-AU 11 8645047 8645047 single base substitution G A intron_variant MELA-AU 11 8645047 8645047 single base substitution G A upstream_gene_variant MELA-AU 11 8645110 8645110 single base substitution C T intron_variant MELA-AU 11 8645110 8645110 single base substitution C T upstream_gene_variant MELA-AU 11 8645174 8645174 single base substitution G A intron_variant MELA-AU 11 8645174 8645174 single base substitution G A upstream_gene_variant MELA-AU 11 8645410 8645410 single base substitution G A intron_variant MELA-AU 11 8645410 8645410 single base substitution G A upstream_gene_variant MELA-AU 11 8645656 8645656 single base substitution G A intron_variant MELA-AU 11 8645656 8645656 single base substitution G A upstream_gene_variant MELA-AU 11 8645730 8645730 single base substitution G A intron_variant MELA-AU 11 8645730 8645730 single base substitution G A upstream_gene_variant MELA-AU 11 8645798 8645798 single base substitution C A intron_variant MELA-AU 11 8645798 8645798 single base substitution C A upstream_gene_variant MELA-AU 11 8646150 8646150 single base substitution A C exon_variant MELA-AU 11 8646150 8646150 single base substitution A C intron_variant MELA-AU 11 8646150 8646150 single base substitution A C upstream_gene_variant MELA-AU 11 8646253 8646253 single base substitution G A exon_variant MELA-AU 11 8646253 8646253 single base substitution G A splice_region_variant MELA-AU 11 8646253 8646253 single base substitution G A upstream_gene_variant MELA-AU 11 8646375 8646375 single base substitution G A exon_variant MELA-AU 11 8646375 8646375 single base substitution G A missense_variant P757L 2270C>T MELA-AU 11 8646375 8646375 single base substitution G A missense_variant P759L 2276C>T MELA-AU 11 8646375 8646375 single base substitution G A upstream_gene_variant MELA-AU 11 8646403 8646403 single base substitution G A exon_variant MELA-AU 11 8646403 8646403 single base substitution G A synonymous_variant L748L 2242C>T MELA-AU 11 8646403 8646403 single base substitution G A synonymous_variant L750L 2248C>T MELA-AU 11 8646403 8646403 single base substitution G A upstream_gene_variant MELA-AU 11 8646457 8646457 single base substitution G A exon_variant MELA-AU 11 8646457 8646457 single base substitution G A missense_variant H730Y 2188C>T MELA-AU 11 8646457 8646457 single base substitution G A missense_variant H732Y 2194C>T MELA-AU 11 8646457 8646457 single base substitution G A upstream_gene_variant MELA-AU 11 8646695 8646695 single base substitution T C exon_variant MELA-AU 11 8646695 8646695 single base substitution T C synonymous_variant L650L 1950A>G MELA-AU 11 8646695 8646695 single base substitution T C synonymous_variant L652L 1956A>G MELA-AU 11 8646695 8646695 single base substitution T C upstream_gene_variant MELA-AU 11 8647891 8647892 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 8647891 8647892 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 11 8648590 8648590 single base substitution G A intron_variant MELA-AU 11 8648590 8648590 single base substitution G A upstream_gene_variant MELA-AU 11 8648717 8648717 single base substitution G A intron_variant MELA-AU 11 8648717 8648717 single base substitution G A upstream_gene_variant MELA-AU 11 8649330 8649330 single base substitution G A intron_variant MELA-AU 11 8649330 8649330 single base substitution G A upstream_gene_variant MELA-AU 11 8649636 8649637 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 8650085 8650085 single base substitution G A intron_variant MELA-AU 11 8650090 8650090 single base substitution G A intron_variant MELA-AU 11 8650140 8650140 single base substitution A G intron_variant MELA-AU 11 8650853 8650853 single base substitution G A intron_variant MELA-AU 11 8651112 8651112 single base substitution G A intron_variant MELA-AU 11 8651113 8651113 single base substitution G A intron_variant MELA-AU 11 8651171 8651171 single base substitution G A intron_variant MELA-AU 11 8651442 8651442 single base substitution G A intron_variant MELA-AU 11 8651903 8651903 single base substitution G A intron_variant MELA-AU 11 8652105 8652105 single base substitution C A intron_variant MELA-AU 11 8652140 8652140 single base substitution G A intron_variant MELA-AU 11 8652339 8652339 single base substitution G A intron_variant MELA-AU 11 8652638 8652638 single base substitution G A intron_variant MELA-AU 11 8652644 8652644 single base substitution G A intron_variant MELA-AU 11 8652928 8652928 single base substitution C A intron_variant MELA-AU 11 8653076 8653076 single base substitution G A intron_variant MELA-AU 11 8653652 8653652 single base substitution C T intron_variant MELA-AU 11 8653669 8653669 single base substitution A G intron_variant MELA-AU 11 8654026 8654026 single base substitution G A intron_variant MELA-AU 11 8654066 8654066 single base substitution G A intron_variant MELA-AU 11 8654467 8654467 single base substitution G A intron_variant MELA-AU 11 8654476 8654476 single base substitution G A intron_variant MELA-AU 11 8654479 8654479 single base substitution G A intron_variant MELA-AU 11 8654535 8654535 single base substitution G A intron_variant MELA-AU 11 8654626 8654626 single base substitution C T intron_variant MELA-AU 11 8654970 8654970 single base substitution C T intron_variant MELA-AU 11 8654973 8654973 single base substitution G A intron_variant MELA-AU 11 8655001 8655001 single base substitution G A intron_variant MELA-AU 11 8655979 8655979 single base substitution G A intron_variant MELA-AU 11 8656592 8656592 single base substitution G A intron_variant MELA-AU 11 8656870 8656870 single base substitution G A intron_variant MELA-AU 11 8657272 8657272 single base substitution G A intron_variant MELA-AU 11 8657755 8657755 single base substitution G A intron_variant MELA-AU 11 8659285 8659285 single base substitution G A intron_variant MELA-AU 11 8659398 8659398 single base substitution G A intron_variant MELA-AU 11 8660096 8660096 single base substitution G A intron_variant MELA-AU 11 8660506 8660506 single base substitution G A intron_variant MELA-AU 11 8661146 8661146 single base substitution G A downstream_gene_variant MELA-AU 11 8661146 8661146 single base substitution G A intron_variant MELA-AU 11 8661239 8661239 single base substitution G A downstream_gene_variant MELA-AU 11 8661239 8661239 single base substitution G A intron_variant MELA-AU 11 8662365 8662365 single base substitution G A downstream_gene_variant MELA-AU 11 8662365 8662365 single base substitution G A exon_variant MELA-AU 11 8662365 8662365 single base substitution G A synonymous_variant A372A 1116C>T MELA-AU 11 8662365 8662365 single base substitution G A synonymous_variant A374A 1122C>T MELA-AU 11 8662472 8662472 single base substitution G A downstream_gene_variant MELA-AU 11 8662472 8662472 single base substitution G A exon_variant MELA-AU 11 8662472 8662472 single base substitution G A missense_variant P337S 1009C>T MELA-AU 11 8662472 8662472 single base substitution G A missense_variant P339S 1015C>T MELA-AU 11 8662550 8662550 single base substitution G A downstream_gene_variant MELA-AU 11 8662550 8662550 single base substitution G A exon_variant MELA-AU 11 8662550 8662550 single base substitution G A missense_variant P311S 931C>T MELA-AU 11 8662550 8662550 single base substitution G A missense_variant P313S 937C>T MELA-AU 11 8662770 8662770 single base substitution G A downstream_gene_variant MELA-AU 11 8662770 8662770 single base substitution G A intron_variant MELA-AU 11 8663020 8663020 single base substitution G A downstream_gene_variant MELA-AU 11 8663020 8663020 single base substitution G A intron_variant MELA-AU 11 8663599 8663599 single base substitution G A downstream_gene_variant MELA-AU 11 8663599 8663599 single base substitution G A intron_variant MELA-AU 11 8663754 8663755 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 8663754 8663755 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 8664126 8664126 single base substitution A T downstream_gene_variant MELA-AU 11 8664126 8664126 single base substitution A T intron_variant MELA-AU 11 8665370 8665370 single base substitution C T downstream_gene_variant MELA-AU 11 8665370 8665370 single base substitution C T intron_variant MELA-AU 11 8666310 8666310 single base substitution C T downstream_gene_variant MELA-AU 11 8666310 8666310 single base substitution C T intron_variant MELA-AU 11 8666329 8666329 single base substitution C T downstream_gene_variant MELA-AU 11 8666329 8666329 single base substitution C T intron_variant MELA-AU 11 8666411 8666411 single base substitution G A downstream_gene_variant MELA-AU 11 8666411 8666411 single base substitution G A intron_variant MELA-AU 11 8666460 8666460 single base substitution G A downstream_gene_variant MELA-AU 11 8666460 8666460 single base substitution G A intron_variant MELA-AU 11 8667025 8667025 single base substitution C A downstream_gene_variant MELA-AU 11 8667025 8667025 single base substitution C A intron_variant MELA-AU 11 8667267 8667267 single base substitution G T downstream_gene_variant MELA-AU 11 8667267 8667267 single base substitution G T intron_variant MELA-AU 11 8668439 8668439 single base substitution G A intron_variant MELA-AU 11 8668934 8668934 single base substitution A G intron_variant MELA-AU 11 8668980 8668980 single base substitution C T intron_variant MELA-AU 11 8669086 8669086 single base substitution A G intron_variant MELA-AU 11 8669387 8669387 single base substitution G A intron_variant MELA-AU 11 8669473 8669473 single base substitution G A intron_variant MELA-AU 11 8669553 8669553 single base substitution G A exon_variant MELA-AU 11 8669553 8669553 single base substitution G A missense_variant S122F 365C>T MELA-AU 11 8669553 8669553 single base substitution G A missense_variant S124F 371C>T MELA-AU 11 8669767 8669767 single base substitution A G intron_variant MELA-AU 11 8669767 8669767 single base substitution A G upstream_gene_variant MELA-AU 11 8669805 8669805 single base substitution G A intron_variant MELA-AU 11 8669805 8669805 single base substitution G A upstream_gene_variant MELA-AU 11 8670213 8670213 single base substitution G A intron_variant MELA-AU 11 8670213 8670213 single base substitution G A upstream_gene_variant MELA-AU 11 8670339 8670339 single base substitution G A intron_variant MELA-AU 11 8670339 8670339 single base substitution G A upstream_gene_variant MELA-AU 11 8671224 8671224 single base substitution G A intron_variant MELA-AU 11 8671224 8671224 single base substitution G A upstream_gene_variant MELA-AU 11 8671311 8671311 single base substitution G A exon_variant MELA-AU 11 8671311 8671311 single base substitution G A missense_variant P45S 133C>T MELA-AU 11 8671311 8671311 single base substitution G A upstream_gene_variant MELA-AU 11 8671328 8671328 single base substitution G A exon_variant MELA-AU 11 8671328 8671328 single base substitution G A missense_variant P39L 116C>T MELA-AU 11 8671328 8671328 single base substitution G A upstream_gene_variant MELA-AU 11 8671454 8671454 single base substitution G A intron_variant MELA-AU 11 8671454 8671454 single base substitution G A upstream_gene_variant MELA-AU 11 8672412 8672412 single base substitution G A intron_variant MELA-AU 11 8672412 8672412 single base substitution G A upstream_gene_variant MELA-AU 11 8672596 8672596 single base substitution A T intron_variant MELA-AU 11 8672596 8672596 single base substitution A T upstream_gene_variant MELA-AU 11 8672612 8672612 single base substitution G A intron_variant MELA-AU 11 8672612 8672612 single base substitution G A upstream_gene_variant MELA-AU 11 8672753 8672753 single base substitution G A intron_variant MELA-AU 11 8672753 8672753 single base substitution G A upstream_gene_variant MELA-AU 11 8673572 8673572 single base substitution G C intron_variant MELA-AU 11 8673572 8673572 single base substitution G C upstream_gene_variant MELA-AU 11 8673653 8673653 single base substitution C T intron_variant MELA-AU 11 8673653 8673653 single base substitution C T upstream_gene_variant MELA-AU 11 8673881 8673881 single base substitution A G intron_variant MELA-AU 11 8673881 8673881 single base substitution A G upstream_gene_variant MELA-AU 11 8674267 8674267 single base substitution G A intron_variant MELA-AU 11 8674267 8674267 single base substitution G A upstream_gene_variant MELA-AU 11 8674768 8674768 single base substitution G A intron_variant MELA-AU 11 8674778 8674778 single base substitution G A intron_variant MELA-AU 11 8675566 8675566 single base substitution G A intron_variant MELA-AU 11 8676354 8676354 single base substitution T C intron_variant MELA-AU 11 8676489 8676489 single base substitution C T intron_variant MELA-AU 11 8676827 8676827 single base substitution G A intron_variant MELA-AU 11 8677106 8677106 single base substitution G A intron_variant MELA-AU 11 8677121 8677122 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 8677128 8677128 single base substitution G A intron_variant MELA-AU 11 8677333 8677333 single base substitution A T intron_variant MELA-AU 11 8677465 8677465 single base substitution G A intron_variant MELA-AU 11 8677562 8677563 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 8677590 8677590 single base substitution G A intron_variant MELA-AU 11 8678164 8678164 single base substitution C T intron_variant MELA-AU 11 8678941 8678941 single base substitution G A intron_variant MELA-AU 11 8679158 8679158 single base substitution G A intron_variant MELA-AU 11 8679720 8679721 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 11 8680075 8680075 single base substitution G A intron_variant MELA-AU 11 8680132 8680132 single base substitution G A intron_variant MELA-AU 11 8680183 8680183 single base substitution G A intron_variant MELA-AU 11 8680721 8680721 single base substitution G A intron_variant MELA-AU 11 8680721 8680721 single base substitution G A upstream_gene_variant MELA-AU 11 8681055 8681055 single base substitution G A intron_variant MELA-AU 11 8681055 8681055 single base substitution G A upstream_gene_variant MELA-AU 11 8681130 8681130 single base substitution G A intron_variant MELA-AU 11 8681130 8681130 single base substitution G A upstream_gene_variant MELA-AU 11 8681559 8681559 single base substitution G A intron_variant MELA-AU 11 8681559 8681559 single base substitution G A upstream_gene_variant MELA-AU 11 8682830 8682830 single base substitution G A intron_variant MELA-AU 11 8682830 8682830 single base substitution G A upstream_gene_variant MELA-AU 11 8683740 8683740 single base substitution G A intron_variant MELA-AU 11 8683740 8683740 single base substitution G A upstream_gene_variant MELA-AU 11 8684154 8684154 single base substitution G A intron_variant MELA-AU 11 8684154 8684154 single base substitution G A upstream_gene_variant MELA-AU 11 8685166 8685166 single base substitution G A intron_variant MELA-AU 11 8685166 8685166 single base substitution G A upstream_gene_variant MELA-AU 11 8685650 8685650 single base substitution G A intron_variant MELA-AU 11 8685818 8685818 single base substitution A T intron_variant MELA-AU 11 8686198 8686198 single base substitution A T intron_variant MELA-AU 11 8686593 8686593 single base substitution G A intron_variant MELA-AU 11 8687421 8687421 single base substitution G A intron_variant MELA-AU 11 8688642 8688642 single base substitution G A intron_variant MELA-AU 11 8688899 8688899 deletion of <=200bp G - intron_variant MELA-AU 11 8688903 8688903 single base substitution G A intron_variant MELA-AU 11 8689500 8689500 single base substitution G A intron_variant MELA-AU 11 8689631 8689631 single base substitution G A intron_variant MELA-AU 11 8690163 8690163 single base substitution C T intron_variant MELA-AU 11 8690410 8690410 single base substitution G A intron_variant MELA-AU 11 8690593 8690593 single base substitution G A intron_variant MELA-AU 11 8690594 8690594 single base substitution G A intron_variant MELA-AU 11 8690647 8690647 single base substitution G A intron_variant MELA-AU 11 8690734 8690734 single base substitution G A intron_variant MELA-AU 11 8690927 8690927 single base substitution A C intron_variant MELA-AU 11 8692084 8692084 single base substitution A G intron_variant MELA-AU 11 8692476 8692476 single base substitution T C intron_variant MELA-AU 11 8692776 8692776 single base substitution A G intron_variant MELA-AU 11 8693841 8693841 single base substitution G A upstream_gene_variant MELA-AU 11 8693956 8693956 single base substitution G A upstream_gene_variant MELA-AU 11 8694260 8694260 single base substitution C T upstream_gene_variant MELA-AU 11 8695229 8695229 single base substitution G A upstream_gene_variant MELA-AU 11 8695232 8695232 single base substitution A T upstream_gene_variant MELA-AU 11 8695465 8695465 single base substitution G A upstream_gene_variant MELA-AU 11 8697069 8697069 single base substitution A G upstream_gene_variant MELA-AU 11 8697184 8697184 single base substitution C T upstream_gene_variant MELA-AU 11 8697377 8697377 single base substitution C T upstream_gene_variant MELA-AU 11 8697644 8697644 single base substitution T C upstream_gene_variant MELA-AU 11 8697719 8697719 single base substitution G A upstream_gene_variant MELA-AU 11 8698057 8698058 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant ORCA-IN 11 8647013 8647014 multiple base substitution (>=2bp and <=200bp) TG AT intron_variant ORCA-IN 11 8647013 8647014 multiple base substitution (>=2bp and <=200bp) TG AT upstream_gene_variant ORCA-IN 11 8660327 8660327 single base substitution C G exon_variant ORCA-IN 11 8660327 8660327 single base substitution C G missense_variant K581N 1743G>C ORCA-IN 11 8660327 8660327 single base substitution C G missense_variant K583N 1749G>C ORCA-IN 11 8693184 8693184 single base substitution C G intron_variant OV-AU 11 8633064 8633064 single base substitution G A downstream_gene_variant OV-AU 11 8634321 8634321 single base substitution C A 3_prime_UTR_variant OV-AU 11 8634321 8634321 single base substitution C A downstream_gene_variant OV-AU 11 8639052 8639052 single base substitution C A 3_prime_UTR_variant OV-AU 11 8639052 8639052 single base substitution C A downstream_gene_variant OV-AU 11 8639052 8639052 single base substitution C A exon_variant OV-AU 11 8644997 8644997 single base substitution T G intron_variant OV-AU 11 8644997 8644997 single base substitution T G upstream_gene_variant OV-AU 11 8653531 8653531 single base substitution C T intron_variant OV-AU 11 8656776 8656776 single base substitution T C intron_variant OV-AU 11 8663610 8663610 single base substitution C G downstream_gene_variant OV-AU 11 8663610 8663610 single base substitution C G intron_variant OV-AU 11 8673266 8673266 single base substitution T C intron_variant OV-AU 11 8673266 8673266 single base substitution T C upstream_gene_variant OV-AU 11 8673667 8673667 single base substitution C T intron_variant OV-AU 11 8673667 8673667 single base substitution C T upstream_gene_variant OV-AU 11 8673818 8673818 single base substitution A C intron_variant OV-AU 11 8673818 8673818 single base substitution A C upstream_gene_variant OV-AU 11 8675522 8675522 single base substitution C G intron_variant OV-AU 11 8676603 8676603 single base substitution C T intron_variant OV-AU 11 8677095 8677095 single base substitution C A intron_variant OV-AU 11 8678782 8678782 single base substitution G T intron_variant OV-AU 11 8679158 8679158 single base substitution G A intron_variant OV-AU 11 8682022 8682022 single base substitution C A intron_variant OV-AU 11 8682022 8682022 single base substitution C A upstream_gene_variant OV-AU 11 8690623 8690623 single base substitution C G intron_variant OV-AU 11 8697515 8697515 single base substitution A C upstream_gene_variant PACA-AU 11 8629801 8629801 single base substitution G A downstream_gene_variant PACA-AU 11 8648276 8648276 single base substitution G A intron_variant PACA-AU 11 8648276 8648276 single base substitution G A upstream_gene_variant PACA-AU 11 8650778 8650778 single base substitution C T intron_variant PACA-AU 11 8667041 8667041 single base substitution T A downstream_gene_variant PACA-AU 11 8667041 8667041 single base substitution T A intron_variant PACA-AU 11 8667492 8667492 single base substitution C T intron_variant PACA-AU 11 8669851 8669851 single base substitution C A intron_variant PACA-AU 11 8669851 8669851 single base substitution C A upstream_gene_variant PACA-AU 11 8676002 8676002 single base substitution G T 5_prime_UTR_variant PACA-AU 11 8676002 8676002 single base substitution G T exon_variant PACA-AU 11 8676002 8676002 single base substitution G T intron_variant PACA-AU 11 8677116 8677116 single base substitution G A intron_variant PACA-AU 11 8685350 8685350 single base substitution A T intron_variant PACA-AU 11 8685350 8685350 single base substitution A T upstream_gene_variant PACA-AU 11 8687356 8687356 single base substitution C T intron_variant PACA-CA 11 8638941 8638941 single base substitution C A 3_prime_UTR_variant PACA-CA 11 8638941 8638941 single base substitution C A downstream_gene_variant PACA-CA 11 8638941 8638941 single base substitution C A exon_variant PACA-CA 11 8639842 8639842 single base substitution G A downstream_gene_variant PACA-CA 11 8639842 8639842 single base substitution G A intron_variant PACA-CA 11 8641030 8641030 single base substitution C T exon_variant PACA-CA 11 8641030 8641030 single base substitution C T missense_variant R1091Q 3272G>A PACA-CA 11 8641030 8641030 single base substitution C T missense_variant R1120Q 3359G>A PACA-CA 11 8641030 8641030 single base substitution C T missense_variant R222Q 665G>A PACA-CA 11 8641030 8641030 single base substitution C T upstream_gene_variant PACA-CA 11 8643848 8643848 single base substitution A G intron_variant PACA-CA 11 8643848 8643848 single base substitution A G upstream_gene_variant PACA-CA 11 8645077 8645077 deletion of <=200bp A - intron_variant PACA-CA 11 8645077 8645077 deletion of <=200bp A - upstream_gene_variant PACA-CA 11 8645225 8645225 single base substitution G A intron_variant PACA-CA 11 8645225 8645225 single base substitution G A upstream_gene_variant PACA-CA 11 8645312 8645312 single base substitution C G intron_variant PACA-CA 11 8645312 8645312 single base substitution C G upstream_gene_variant PACA-CA 11 8645504 8645504 single base substitution C G intron_variant PACA-CA 11 8645504 8645504 single base substitution C G upstream_gene_variant PACA-CA 11 8647180 8647180 single base substitution G A intron_variant PACA-CA 11 8647180 8647180 single base substitution G A upstream_gene_variant PACA-CA 11 8655326 8655326 single base substitution G C intron_variant PACA-CA 11 8661888 8661888 single base substitution T C downstream_gene_variant PACA-CA 11 8661888 8661888 single base substitution T C exon_variant PACA-CA 11 8661888 8661888 single base substitution T C synonymous_variant Q531Q 1593A>G PACA-CA 11 8661888 8661888 single base substitution T C synonymous_variant Q533Q 1599A>G PACA-CA 11 8667765 8667765 single base substitution T C intron_variant PACA-CA 11 8668236 8668236 insertion of <=200bp - A intron_variant PACA-CA 11 8668237 8668237 deletion of <=200bp A - intron_variant PACA-CA 11 8672672 8672672 single base substitution G C intron_variant PACA-CA 11 8672672 8672672 single base substitution G C upstream_gene_variant PACA-CA 11 8677330 8677330 deletion of <=200bp A - intron_variant PACA-CA 11 8682838 8682838 single base substitution G A intron_variant PACA-CA 11 8682838 8682838 single base substitution G A upstream_gene_variant PACA-CA 11 8683653 8683653 single base substitution C G intron_variant PACA-CA 11 8683653 8683653 single base substitution C G upstream_gene_variant PACA-CA 11 8683808 8683808 single base substitution A G intron_variant PACA-CA 11 8683808 8683808 single base substitution A G upstream_gene_variant PACA-CA 11 8695918 8695918 deletion of <=200bp T - upstream_gene_variant PACA-CA 11 8696798 8696798 single base substitution A G upstream_gene_variant PACA-CA 11 8698229 8698229 single base substitution C T upstream_gene_variant PAEN-AU 11 8639206 8639206 single base substitution G A 3_prime_UTR_variant PAEN-AU 11 8639206 8639206 single base substitution G A downstream_gene_variant PAEN-AU 11 8639206 8639206 single base substitution G A exon_variant PAEN-IT 11 8630933 8630933 single base substitution G C downstream_gene_variant PAEN-IT 11 8664609 8664609 single base substitution C T downstream_gene_variant PAEN-IT 11 8664609 8664609 single base substitution C T exon_variant PAEN-IT 11 8664609 8664609 single base substitution C T missense_variant S243N 728G>A PAEN-IT 11 8664609 8664609 single base substitution C T missense_variant S245N 734G>A PAEN-IT 11 8697806 8697806 single base substitution T A upstream_gene_variant PBCA-DE 11 8644969 8644969 single base substitution G A intron_variant PBCA-DE 11 8644969 8644969 single base substitution G A upstream_gene_variant PBCA-DE 11 8661398 8661398 single base substitution G A downstream_gene_variant PBCA-DE 11 8661398 8661398 single base substitution G A intron_variant PBCA-DE 11 8661532 8661532 single base substitution G A downstream_gene_variant PBCA-DE 11 8661532 8661532 single base substitution G A intron_variant PBCA-DE 11 8662525 8662525 single base substitution C T downstream_gene_variant PBCA-DE 11 8662525 8662525 single base substitution C T exon_variant PBCA-DE 11 8662525 8662525 single base substitution C T missense_variant C319Y 956G>A PBCA-DE 11 8662525 8662525 single base substitution C T missense_variant C321Y 962G>A PBCA-DE 11 8664817 8664817 single base substitution A C downstream_gene_variant PBCA-DE 11 8664817 8664817 single base substitution A C intron_variant PBCA-DE 11 8665595 8665595 single base substitution T A downstream_gene_variant PBCA-DE 11 8665595 8665595 single base substitution T A intron_variant PBCA-DE 11 8677359 8677359 insertion of <=200bp - A intron_variant PBCA-DE 11 8692524 8692524 single base substitution C T intron_variant PRAD-CA 11 8660563 8660563 single base substitution G T intron_variant PRAD-CA 11 8678732 8678732 single base substitution G A intron_variant PRAD-UK 11 8644067 8644067 single base substitution C G intron_variant PRAD-UK 11 8644067 8644067 single base substitution C G upstream_gene_variant PRAD-UK 11 8648684 8648684 single base substitution C G intron_variant PRAD-UK 11 8648684 8648684 single base substitution C G upstream_gene_variant PRAD-UK 11 8677626 8677626 single base substitution A G intron_variant PRAD-UK 11 8686949 8686949 single base substitution C T intron_variant PRAD-UK 11 8688647 8688647 single base substitution G T intron_variant READ-US 11 8639520 8639520 single base substitution G A downstream_gene_variant READ-US 11 8639520 8639520 single base substitution G A exon_variant READ-US 11 8639520 8639520 single base substitution G A missense_variant R1208C 3622C>T READ-US 11 8639520 8639520 single base substitution G A missense_variant R1237C 3709C>T READ-US 11 8641086 8641086 deletion of <=200bp G - splice_region_variant READ-US 11 8641086 8641086 deletion of <=200bp G - upstream_gene_variant RECA-EU 11 8631076 8631076 single base substitution C T downstream_gene_variant RECA-EU 11 8641848 8641848 single base substitution A G intron_variant RECA-EU 11 8641848 8641848 single base substitution A G upstream_gene_variant RECA-EU 11 8643373 8643373 single base substitution C T splice_region_variant RECA-EU 11 8643373 8643373 single base substitution C T upstream_gene_variant RECA-EU 11 8650178 8650178 single base substitution A G intron_variant RECA-EU 11 8650179 8650179 single base substitution A G intron_variant RECA-EU 11 8650850 8650850 single base substitution A T intron_variant RECA-EU 11 8667239 8667239 single base substitution C T downstream_gene_variant RECA-EU 11 8667239 8667239 single base substitution C T intron_variant RECA-EU 11 8670960 8670960 single base substitution C G intron_variant RECA-EU 11 8670960 8670960 single base substitution C G upstream_gene_variant RECA-EU 11 8678939 8678939 single base substitution T A intron_variant RECA-EU 11 8683442 8683442 single base substitution T C intron_variant RECA-EU 11 8683442 8683442 single base substitution T C upstream_gene_variant RECA-EU 11 8684097 8684097 single base substitution C T intron_variant RECA-EU 11 8684097 8684097 single base substitution C T upstream_gene_variant RECA-EU 11 8687506 8687506 single base substitution A T intron_variant RECA-EU 11 8689130 8689130 single base substitution G A intron_variant SKCA-BR 11 8632590 8632590 single base substitution G A downstream_gene_variant SKCA-BR 11 8632757 8632757 single base substitution C A downstream_gene_variant SKCA-BR 11 8633573 8633573 single base substitution C T downstream_gene_variant SKCA-BR 11 8638157 8638157 single base substitution T C 3_prime_UTR_variant SKCA-BR 11 8638157 8638157 single base substitution T C downstream_gene_variant SKCA-BR 11 8638157 8638157 single base substitution T C exon_variant SKCA-BR 11 8641744 8641744 single base substitution C T intron_variant SKCA-BR 11 8641744 8641744 single base substitution C T upstream_gene_variant SKCA-BR 11 8642218 8642218 single base substitution C T intron_variant SKCA-BR 11 8642218 8642218 single base substitution C T upstream_gene_variant SKCA-BR 11 8644611 8644611 single base substitution G A intron_variant SKCA-BR 11 8644611 8644611 single base substitution G A upstream_gene_variant SKCA-BR 11 8645209 8645209 single base substitution C T intron_variant SKCA-BR 11 8645209 8645209 single base substitution C T upstream_gene_variant SKCA-BR 11 8646008 8646008 single base substitution G A exon_variant SKCA-BR 11 8646008 8646008 single base substitution G A missense_variant P826S 2476C>T SKCA-BR 11 8646008 8646008 single base substitution G A splice_region_variant SKCA-BR 11 8646008 8646008 single base substitution G A upstream_gene_variant SKCA-BR 11 8647024 8647024 single base substitution G C intron_variant SKCA-BR 11 8647024 8647024 single base substitution G C upstream_gene_variant SKCA-BR 11 8647090 8647102 deletion of <=200bp CACACACACACAG - intron_variant SKCA-BR 11 8647090 8647102 deletion of <=200bp CACACACACACAG - upstream_gene_variant SKCA-BR 11 8647099 8647099 single base substitution A T intron_variant SKCA-BR 11 8647099 8647099 single base substitution A T upstream_gene_variant SKCA-BR 11 8647709 8647709 single base substitution G A intron_variant SKCA-BR 11 8647709 8647709 single base substitution G A upstream_gene_variant SKCA-BR 11 8650179 8650179 single base substitution A G intron_variant SKCA-BR 11 8660179 8660179 single base substitution G A intron_variant SKCA-BR 11 8662096 8662096 single base substitution A G downstream_gene_variant SKCA-BR 11 8662096 8662096 single base substitution A G exon_variant SKCA-BR 11 8662096 8662096 single base substitution A G missense_variant L462P 1385T>C SKCA-BR 11 8662096 8662096 single base substitution A G missense_variant L464P 1391T>C SKCA-BR 11 8666096 8666096 single base substitution G A downstream_gene_variant SKCA-BR 11 8666096 8666096 single base substitution G A intron_variant SKCA-BR 11 8667027 8667027 single base substitution C A downstream_gene_variant SKCA-BR 11 8667027 8667027 single base substitution C A intron_variant SKCA-BR 11 8668247 8668247 single base substitution G A intron_variant SKCA-BR 11 8671961 8671961 single base substitution G A intron_variant SKCA-BR 11 8671961 8671961 single base substitution G A upstream_gene_variant SKCA-BR 11 8672201 8672201 single base substitution C T intron_variant SKCA-BR 11 8672201 8672201 single base substitution C T upstream_gene_variant SKCA-BR 11 8673373 8673373 single base substitution G A 5_prime_UTR_variant SKCA-BR 11 8673373 8673373 single base substitution G A exon_variant SKCA-BR 11 8673373 8673373 single base substitution G A upstream_gene_variant SKCA-BR 11 8676233 8676233 single base substitution G A intron_variant SKCA-BR 11 8676238 8676238 single base substitution C T intron_variant SKCA-BR 11 8678467 8678467 single base substitution G A intron_variant SKCA-BR 11 8680396 8680396 single base substitution A C intron_variant SKCA-BR 11 8680396 8680396 single base substitution A C upstream_gene_variant SKCA-BR 11 8684233 8684233 single base substitution G A intron_variant SKCA-BR 11 8684233 8684233 single base substitution G A upstream_gene_variant SKCA-BR 11 8686523 8686523 single base substitution G A intron_variant SKCA-BR 11 8689336 8689336 single base substitution C T intron_variant SKCA-BR 11 8690137 8690137 insertion of <=200bp - AT intron_variant SKCA-BR 11 8691559 8691560 deletion of <=200bp TA - intron_variant SKCA-BR 11 8691560 8691560 single base substitution A T intron_variant SKCA-BR 11 8695097 8695097 single base substitution G A upstream_gene_variant SKCA-BR 11 8697510 8697510 single base substitution T C upstream_gene_variant SKCA-BR 11 8697515 8697515 single base substitution A C upstream_gene_variant SKCA-BR 11 8697524 8697524 single base substitution T C upstream_gene_variant THCA-SA 11 8634757 8634757 single base substitution C T 3_prime_UTR_variant THCA-SA 11 8634757 8634757 single base substitution C T downstream_gene_variant THCA-SA 11 8636339 8636339 single base substitution G C 3_prime_UTR_variant THCA-SA 11 8636339 8636339 single base substitution G C downstream_gene_variant THCA-SA 11 8636350 8636350 single base substitution A G 3_prime_UTR_variant THCA-SA 11 8636350 8636350 single base substitution A G downstream_gene_variant THCA-SA 11 8637191 8637191 single base substitution G C 3_prime_UTR_variant THCA-SA 11 8637191 8637191 single base substitution G C downstream_gene_variant THCA-SA 11 8637191 8637191 single base substitution G C exon_variant THCA-SA 11 8639200 8639200 single base substitution T C 3_prime_UTR_variant THCA-SA 11 8639200 8639200 single base substitution T C downstream_gene_variant THCA-SA 11 8639200 8639200 single base substitution T C exon_variant THCA-SA 11 8639325 8639325 single base substitution G A 3_prime_UTR_variant THCA-SA 11 8639325 8639325 single base substitution G A downstream_gene_variant THCA-SA 11 8639325 8639325 single base substitution G A exon_variant THCA-SA 11 8662090 8662090 single base substitution T C downstream_gene_variant THCA-SA 11 8662090 8662090 single base substitution T C exon_variant THCA-SA 11 8662090 8662090 single base substitution T C missense_variant H464R 1391A>G THCA-SA 11 8662090 8662090 single base substitution T C missense_variant H466R 1397A>G THCA-SA 11 8662516 8662516 single base substitution T C downstream_gene_variant THCA-SA 11 8662516 8662516 single base substitution T C exon_variant THCA-SA 11 8662516 8662516 single base substitution T C missense_variant H322R 965A>G THCA-SA 11 8662516 8662516 single base substitution T C missense_variant H324R 971A>G UCEC-US 11 8639495 8639495 single base substitution A G downstream_gene_variant UCEC-US 11 8639495 8639495 single base substitution A G exon_variant UCEC-US 11 8639495 8639495 single base substitution A G missense_variant V1216A 3647T>C UCEC-US 11 8639495 8639495 single base substitution A G missense_variant V1245A 3734T>C UCEC-US 11 8640311 8640311 single base substitution G A downstream_gene_variant UCEC-US 11 8640311 8640311 single base substitution G A exon_variant UCEC-US 11 8640311 8640311 single base substitution G A missense_variant R1193W 3577C>T UCEC-US 11 8640311 8640311 single base substitution G A missense_variant R1222W 3664C>T UCEC-US 11 8642732 8642732 single base substitution C T exon_variant UCEC-US 11 8642732 8642732 single base substitution C T missense_variant R86Q 257G>A UCEC-US 11 8642732 8642732 single base substitution C T missense_variant R955Q 2864G>A UCEC-US 11 8642732 8642732 single base substitution C T missense_variant R984Q 2951G>A UCEC-US 11 8642732 8642732 single base substitution C T upstream_gene_variant UCEC-US 11 8642798 8642798 single base substitution G T exon_variant UCEC-US 11 8642798 8642798 single base substitution G T intron_variant UCEC-US 11 8642798 8642798 single base substitution G T missense_variant S933Y 2798C>A UCEC-US 11 8642798 8642798 single base substitution G T missense_variant S962Y 2885C>A UCEC-US 11 8642798 8642798 single base substitution G T upstream_gene_variant UCEC-US 11 8645915 8645915 single base substitution T G exon_variant UCEC-US 11 8645915 8645915 single base substitution T G missense_variant N828H 2482A>C UCEC-US 11 8645915 8645915 single base substitution T G missense_variant N857H 2569A>C UCEC-US 11 8645915 8645915 single base substitution T G upstream_gene_variant UCEC-US 11 8661825 8661825 single base substitution G A downstream_gene_variant UCEC-US 11 8661825 8661825 single base substitution G A exon_variant UCEC-US 11 8661825 8661825 single base substitution G A synonymous_variant I552I 1656C>T UCEC-US 11 8661825 8661825 single base substitution G A synonymous_variant I554I 1662C>T UCEC-US 11 8662129 8662129 single base substitution G T downstream_gene_variant UCEC-US 11 8662129 8662129 single base substitution G T exon_variant UCEC-US 11 8662129 8662129 single base substitution G T missense_variant P451Q 1352C>A UCEC-US 11 8662129 8662129 single base substitution G T missense_variant P453Q 1358C>A UCEC-US 11 8662500 8662500 single base substitution C T downstream_gene_variant UCEC-US 11 8662500 8662500 single base substitution C T exon_variant UCEC-US 11 8662500 8662500 single base substitution C T synonymous_variant S327S 981G>A UCEC-US 11 8662500 8662500 single base substitution C T synonymous_variant S329S 987G>A UCEC-US 11 8667371 8667371 single base substitution G A exon_variant UCEC-US 11 8667371 8667371 single base substitution G A missense_variant R194C 580C>T UCEC-US 11 8667371 8667371 single base substitution G A missense_variant R196C 586C>T UCEC-US 11 8668024 8668024 single base substitution T C exon_variant UCEC-US 11 8668024 8668024 single base substitution T C synonymous_variant K162K 486A>G UCEC-US 11 8668024 8668024 single base substitution T C synonymous_variant K164K 492A>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 3006_T COSM3953893 c.366G>C p.K122N Substitution - Missense 11:8648011-8648011 - CHC892T COSM4796747 c.3019G>A p.G1007R Substitution - Missense 11:8620571-8620571 - WSU-HN6 COSM3752792 c.1397A>G p.H466R Substitution - Missense 11:8640543-8640543 - CHC892T COSM4794725 c.1753G>A p.A585T Substitution - Missense 11:8638776-8638776 - PD8964a COSM5782185 c.189G>T p.L63F Substitution - Missense 11:8648517-8648517 - 93VU147T COSM3752792 c.1397A>G p.H466R Substitution - Missense 11:8640543-8640543 - PD3858a COSM165143 c.1834G>C p.D612H Substitution - Missense 11:8638695-8638695 - 2492711 COSM5607142 c.2578C>T p.P860S Substitution - Missense 11:8621794-8621794 - LIM1215 COSM4201430 c.1797G>A p.A599A Substitution - coding silent 11:8638732-8638732 - TCGA-D1-A17Q-01 COSM932748 c.3577C>T p.R1193W Substitution - Missense 11:8618764-8618764 - TCGA-D1-A17Q-01 COSM932749 c.2864G>A p.R955Q Substitution - Missense 11:8621185-8621185 - ME002T COSM222201 c.2420C>T p.S807F Substitution - Missense 11:8624430-8624430 - TCGA-E2-A3DX-01 COSM3810594 c.864C>A p.P288P Substitution - coding silent 11:8641076-8641076 - HCC021T COSM5815741 c.1282A>T p.T428S Substitution - Missense 11:8640658-8640658 - SCC-15 COSM3727849 c.1888C>G p.L630V Substitution - Missense 11:8625216-8625216 - CHC892T COSM4793755 c.483G>A p.E161E Substitution - coding silent 11:8646486-8646486 - RKO COSM2221766 c.3635G>T p.S1212I Substitution - Missense 11:8617960-8617960 - J9_T COSM3953891 c.2702C>G p.T901S Substitution - Missense 11:8621670-8621670 - TCGA-EI-6917-01 COSM3416307 c.3622C>T p.R1208C Substitution - Missense 11:8617973-8617973 - CAL27 COSM3727849 c.1888C>G p.L630V Substitution - Missense 11:8625216-8625216 - B59-3-Tumor COSM3931461 c.1476G>A p.Q492Q Substitution - coding silent 11:8640464-8640464 - CHC1611T COSM4789201 c.819C>A p.S273S Substitution - coding silent 11:8641121-8641121 - SNUH_G76_S1 COSM3752795 c.75G>A p.L25L Substitution - coding silent 11:8649822-8649822 - BHY COSM3752792 c.1397A>G p.H466R Substitution - Missense 11:8640543-8640543 - RK214_C01 COSM3739324 c.2633C>T p.P878L Substitution - Missense 11:8621739-8621739 - C0025T COSM4165974 c.2553-7G>A p.? Unknown 11:8621826-8621826 - HCC95 COSM1605324 c.940G>A p.A314T Substitution - Missense 11:8641000-8641000 - CHC1148T COSM4954760 c.1158G>T p.W386C Substitution - Missense 11:8640782-8640782 - YUPAER COSM5373758 c.3381C>T p.S1127S Substitution - coding silent 11:8618960-8618960 - PD4125a COSM165145 c.842G>A p.G281E Substitution - Missense 11:8641098-8641098 - 2492712 COSM5607142 c.2578C>T p.P860S Substitution - Missense 11:8621794-8621794 - 1011 COSM5730665 c.2794_2795delAC p.T932fs*16 Deletion - Frameshift 11:8621254-8621255 - PT16_1 COSM2221842 c.1706C>T p.T569I Substitution - Missense 11:8640234-8640234 - UM-SCC-4 COSM3727849 c.1888C>G p.L630V Substitution - Missense 11:8625216-8625216 - HCA7 COSM4629847 c.3623G>T p.R1208L Substitution - Missense 11:8617972-8617972 - ESCC_118 COSM5640146 c.3043C>T p.R1015C Substitution - Missense 11:8620547-8620547 - TCGA-AM-5821-01 COSM1561936 c.971A>G p.H324R Substitution - Missense 11:8640969-8640969 - PTC-10C COSM4146396 c.1381C>T p.P461S Substitution - Missense 11:8640559-8640559 - PAPLDL COSM5004404 c.1575C>T p.L525L Substitution - coding silent 11:8640365-8640365 - TCGA-A8-A09I-01 COSM429988 c.2893G>T p.A965S Substitution - Missense 11:8621156-8621156 - BD114T COSM5503714 c.3434A>T p.K1145M Substitution - Missense 11:8618907-8618907 - CSCC-31-T COSM4527903 c.1498G>T p.A500S Substitution - Missense 11:8640442-8640442 - CHC892T COSM4793755 c.483G>A p.E161E Substitution - coding silent 11:8646486-8646486 - CHC892T COSM2221843 c.1647G>A p.G549G Substitution - coding silent 11:8640293-8640293 - TCGA-AM-5821-01 COSM3752792 c.1397A>G p.H466R Substitution - Missense 11:8640543-8640543 - CAL27 COSM3752792 c.1397A>G p.H466R Substitution - Missense 11:8640543-8640543 - CSCC-15-T COSM4485385 c.2929C>T p.L977F Substitution - Missense 11:8621120-8621120 - CSCC-40-T COSM4544451 c.3579G>A p.R1193R Substitution - coding silent 11:8618762-8618762 - CHC1534T COSM4955112 c.83C>G p.S28C Substitution - Missense 11:8649814-8649814 - SCC-9 COSM3727849 c.1888C>G p.L630V Substitution - Missense 11:8625216-8625216 - TCGA-A6-5665-01 COSM1357569 c.1647_1648insG p.Q550fs*26 Insertion - Frameshift 11:8640292-8640293 - ACC-2 COSM4967702 c.1981A>C p.N661H Substitution - Missense 11:8625123-8625123 - Gp2D COSM2221776 c.3073G>A p.D1025N Substitution - Missense 11:8620517-8620517 - UM-SCC-11B COSM3752792 c.1397A>G p.H466R Substitution - Missense 11:8640543-8640543 - CHC1611T COSM4789201 c.819C>A p.S273S Substitution - coding silent 11:8641121-8641121 - TCGA-AD-6889-01 COSM1357566 c.2891delC p.P964fs*4 Deletion - Frameshift 11:8621158-8621158 - 31107 COSM5043972 c.1162G>C p.E388Q Substitution - Missense 11:8640778-8640778 - TCGA-EP-A2KA-01 COSM4917417 c.3047G>A p.S1016N Substitution - Missense 11:8620543-8620543 - TCGA-AR-A24L-01 COSM1475949 c.232G>C p.E78Q Substitution - Missense 11:8648474-8648474 - 2492720 COSM5721663 c.3380C>T p.S1127F Substitution - Missense 11:8618961-8618961 - CHC892T COSM4796747 c.3019G>A p.G1007R Substitution - Missense 11:8620571-8620571 - TCGA-CC-A123-01 COSM4915260 c.1048C>A p.P350T Substitution - Missense 11:8640892-8640892 - U2940 COSM5622048 c.100C>T p.R34* Substitution - Nonsense 11:8649797-8649797 - OSCC-GB_01060111 COSM4882978 c.1749G>C p.K583N Substitution - Missense 11:8638780-8638780 - WSU-HN30 COSM3727849 c.1888C>G p.L630V Substitution - Missense 11:8625216-8625216 - TCGA-BS-A0UF-01 COSM932751 c.2482A>C p.N828H Substitution - Missense 11:8624368-8624368 - HT115 COSM2221858 c.740G>T p.R247I Substitution - Missense 11:8643056-8643056 - 19 COSM5096809 c.2891_2892insC p.A965fs*6 Insertion - Frameshift 11:8621157-8621158 - HCC066T COSM5821077 c.3187A>T p.S1063C Substitution - Missense 11:8620082-8620082 - HDC54 COSM2221846 c.1448C>T p.P483L Substitution - Missense 11:8640492-8640492 - ORL-48 COSM3727849 c.1888C>G p.L630V Substitution - Missense 11:8625216-8625216 - 93VU147T COSM3727849 c.1888C>G p.L630V Substitution - Missense 11:8625216-8625216 - TCGA-AM-5821-01 COSM3752793 c.838T>C p.Y280H Substitution - Missense 11:8641102-8641102 - Gp5D COSM2221776 c.3073G>A p.D1025N Substitution - Missense 11:8620517-8620517 - pfg008T COSM4749622 c.3583C>T p.R1195* Substitution - Nonsense 11:8618758-8618758 - CHC1534T COSM4955112 c.83C>G p.S28C Substitution - Missense 11:8649814-8649814 - 2492713 COSM5607142 c.2578C>T p.P860S Substitution - Missense 11:8621794-8621794 - TCGA-B5-A11E-01 COSM932766 c.987G>A p.S329S Substitution - coding silent 11:8640953-8640953 - TCGA-A6-5665-01 COSM1357563 c.3338G>A p.R1113H Substitution - Missense 11:8619417-8619417 - PTC-515C COSM3752792 c.1397A>G p.H466R Substitution - Missense 11:8640543-8640543 - TCGA-IZ-A6M8-01 COSM3986529 c.3649T>C p.*1217R Nonstop extension 11:8617946-8617946 - PT51 COSM5938304 c.1515G>A p.M505I Substitution - Missense 11:8640425-8640425 - LP6005690-DNA_E03 COSM5952769 c.3118C>T p.P1040S Substitution - Missense 11:8620472-8620472 - LIM2405 COSM4613281 c.1247_1248insC p.Q417fs*75 Insertion - Frameshift 11:8640692-8640693 - 587228 COSM1230388 c.1484G>A p.S495N Substitution - Missense 11:8640456-8640456 - tumor_4177601 COSM5949962 c.689G>A p.R230Q Substitution - Missense 11:8643107-8643107 - LP6007504-DNA_A01 COSM5034520 c.3339C>T p.R1113R Substitution - coding silent 11:8619416-8619416 - LUAD-S00488 COSM394938 c.1413T>C p.L471L Substitution - coding silent 11:8640527-8640527 - BICR_22 COSM3752792 c.1397A>G p.H466R Substitution - Missense 11:8640543-8640543 - CSCC-55-T COSM4565156 c.1789_1790CC>TT p.P597F Substitution - Missense 11:8638739-8638740 - 833T COSM5824733 c.734G>A p.S245N Substitution - Missense 11:8643062-8643062 - RW2982 COSM4649486 c.67C>T p.R23C Substitution - Missense 11:8649830-8649830 - TCGA-F4-6570-01 COSM1357561 c.3580C>T p.R1194* Substitution - Nonsense 11:8618761-8618761 - SCC-9 COSM3752792 c.1397A>G p.H466R Substitution - Missense 11:8640543-8640543 - SJACT02_D COSM4968406 c.3478G>T p.D1160Y Substitution - Missense 11:8618863-8618863 - YUGURT COSM5373759 c.3301C>T p.H1101Y Substitution - Missense 11:8619454-8619454 - TCGA-AM-5821-01 COSM3687694 c.2131T>C p.F711L Substitution - Missense 11:8624973-8624973 - WSU-HN13 COSM3752792 c.1397A>G p.H466R Substitution - Missense 11:8640543-8640543 - WSU-HN12 COSM3727849 c.1888C>G p.L630V Substitution - Missense 11:8625216-8625216 - TCGA-CA-6717-01 COSM1357562 c.3370T>G p.Y1124D Substitution - Missense 11:8619385-8619385 - HCC95T COSM1605324 c.940G>A p.A314T Substitution - Missense 11:8641000-8641000 - TCGA-BC-A10W-01 COSM4937342 c.671T>C p.I224T Substitution - Missense 11:8643125-8643125 - TCGA-BS-A0UF-01 COSM932764 c.1662C>T p.I554I Substitution - coding silent 11:8640278-8640278 - 587288 COSM1230393 c.2597G>T p.R866L Substitution - Missense 11:8621775-8621775 - NOKSI COSM3752792 c.1397A>G p.H466R Substitution - Missense 11:8640543-8640543 - ESCC_76 COSM5635027 c.402G>A p.E134E Substitution - coding silent 11:8647975-8647975 - 587332 COSM1230390 c.2393T>C p.V798A Substitution - Missense 11:8624711-8624711 - HCC2998 COSM2221780 c.2928C>T p.C976C Substitution - coding silent 11:8621121-8621121 - CSCC-56-T COSM4483256 c.2688C>T p.I896I Substitution - coding silent 11:8621684-8621684 - TCGA-AC-A23H-01 COSM3810593 c.1738C>T p.Q580* Substitution - Nonsense 11:8638791-8638791 - LC_S48 COSM1188162 c.732G>A p.W244* Substitution - Nonsense 11:8643064-8643064 - WSU-HN8 COSM3752792 c.1397A>G p.H466R Substitution - Missense 11:8640543-8640543 - PTC-1C COSM4146395 c.1394C>A p.P465H Substitution - Missense 11:8640546-8640546 - ICC009T COSM5823454 c.3085G>A p.A1029T Substitution - Missense 11:8620505-8620505 - CHC892T COSM2221843 c.1647G>A p.G549G Substitution - coding silent 11:8640293-8640293 - TCGA-AM-5821-01 COSM3752795 c.75G>A p.L25L Substitution - coding silent 11:8649822-8649822 - TCGA-BH-A42V-01 COSM3810591 c.3650G>A p.*1217* Substitution - coding silent 11:8617945-8617945 - UM-SCC-4 COSM3752792 c.1397A>G p.H466R Substitution - Missense 11:8640543-8640543 - PTC-28C COSM2221849 c.1416C>T p.P472P Substitution - coding silent 11:8640524-8640524 - UM-SCC-47 COSM3727849 c.1888C>G p.L630V Substitution - Missense 11:8625216-8625216 - 587328 COSM1230389 c.176G>T p.G59V Substitution - Missense 11:8648530-8648530 - WSU-HN12 COSM3752792 c.1397A>G p.H466R Substitution - Missense 11:8640543-8640543 - PTC-28C COSM3752792 c.1397A>G p.H466R Substitution - Missense 11:8640543-8640543 - SCC-25 COSM3752792 c.1397A>G p.H466R Substitution - Missense 11:8640543-8640543 - TCGA-BS-A0UV-01 COSM932750 c.2798C>A p.S933Y Substitution - Missense 11:8621251-8621251 - PD3858a COSM165144 c.826G>C p.D276H Substitution - Missense 11:8641114-8641114 - TCGA-AM-5821-01 COSM3727849 c.1888C>G p.L630V Substitution - Missense 11:8625216-8625216 - 40M COSM5586856 c.1229C>T p.P410L Substitution - Missense 11:8640711-8640711 - CHC892T COSM4794725 c.1753G>A p.A585T Substitution - Missense 11:8638776-8638776 - NCI-H747 COSM2221846 c.1448C>T p.P483L Substitution - Missense 11:8640492-8640492 - CHC1148T COSM4954760 c.1158G>T p.W386C Substitution - Missense 11:8640782-8640782 - UM-SCC-2 COSM3727849 c.1888C>G p.L630V Substitution - Missense 11:8625216-8625216 - CSCC-56-T COSM2221849 c.1416C>T p.P472P Substitution - coding silent 11:8640524-8640524 - CAL33 COSM3727849 c.1888C>G p.L630V Substitution - Missense 11:8625216-8625216 - HCT8 COSM4633452 c.1819A>T p.S607C Substitution - Missense 11:8638710-8638710 - TCGA-CK-5913-01 COSM1357561 c.3580C>T p.R1194* Substitution - Nonsense 11:8618761-8618761 - Au8 COSM5607142 c.2578C>T p.P860S Substitution - Missense 11:8621794-8621794 - TCGA-D5-6930-01 COSM1357572 c.347C>T p.T116I Substitution - Missense 11:8648030-8648030 - TCGA-AP-A0LM-01 COSM932775 c.492A>G p.K164K Substitution - coding silent 11:8646477-8646477 - LUAD-5V8LT COSM404833 c.2089delA p.T697fs*21 Deletion - Frameshift 11:8625015-8625015 - ORL-48 COSM3752792 c.1397A>G p.H466R Substitution - Missense 11:8640543-8640543 - BN40T COSM1605323 c.1397A>C p.H466P Substitution - Missense 11:8640543-8640543 - ORL-48 COSM4596964 c.601G>T p.V201L Substitution - Missense 11:8645809-8645809 - YUKAT COSM5373760 c.1127G>A p.S376N Substitution - Missense 11:8640813-8640813 - 2492723 COSM5721663 c.3380C>T p.S1127F Substitution - Missense 11:8618961-8618961 - HCC140T COSM1605323 c.1397A>C p.H466P Substitution - Missense 11:8640543-8640543 - 2492714 COSM5607142 c.2578C>T p.P860S Substitution - Missense 11:8621794-8621794 - CSCC-41-T COSM4532528 c.1892G>A p.S631N Substitution - Missense 11:8625212-8625212 - 587376 COSM1230391 c.2597G>A p.R866Q Substitution - Missense 11:8621775-8621775 - UM-SCC-47 COSM3752792 c.1397A>G p.H466R Substitution - Missense 11:8640543-8640543 - 2334193 COSM323996 c.3484G>T p.D1162Y Substitution - Missense 11:8618857-8618857 - UM-SCC-11B COSM3727849 c.1888C>G p.L630V Substitution - Missense 11:8625216-8625216 - PTC-28C COSM4146394 c.1417C>A p.P473T Substitution - Missense 11:8640523-8640523 - Detroit_562 COSM3752792 c.1397A>G p.H466R Substitution - Missense 11:8640543-8640543 - UM-SCC-17B COSM3752792 c.1397A>G p.H466R Substitution - Missense 11:8640543-8640543 - UM-SCC-2 COSM3752792 c.1397A>G p.H466R Substitution - Missense 11:8640543-8640543 - 2492722 COSM5721663 c.3380C>T p.S1127F Substitution - Missense 11:8618961-8618961 - PCSI_0128_Pa_P COSM3375974 c.1599A>G p.Q533Q Substitution - coding silent 11:8640341-8640341 - CSCC-44-T COSM4486903 c.3116C>G p.S1039C Substitution - Missense 11:8620474-8620474 - TCGA-CA-6717-01 COSM1357570 c.887C>T p.P296L Substitution - Missense 11:8641053-8641053 - ME012T COSM224714 c.2492-1G>T p.? Unknown 11:8622877-8622877 - TCGA-BP-4770-01 COSM467518 c.1404A>C p.P468P Substitution - coding silent 11:8640536-8640536 - BICR_22 COSM3727849 c.1888C>G p.L630V Substitution - Missense 11:8625216-8625216 - HT55 COSM2221769 c.3481T>A p.S1161T Substitution - Missense 11:8618860-8618860 - PTC-50C COSM3752792 c.1397A>G p.H466R Substitution - Missense 11:8640543-8640543 - CSCC-27-T COSM4479919 c.2370C>T p.S790S Substitution - coding silent 11:8624734-8624734 - TCGA-EI-6507-01 COSM3414574 c.3220-4delC p.? Unknown 11:8619539-8619539 - 182T COSM1726358 c.2306G>A p.G769E Substitution - Missense 11:8624798-8624798 - CSCC-16-T COSM4456952 c.1028C>T p.P343L Substitution - Missense 11:8640912-8640912 - N106T COSM236654 c.3598G>T p.E1200* Substitution - Nonsense 11:8617997-8617997 - PTC-14C COSM4146393 c.2688C>A p.I896I Substitution - coding silent 11:8621684-8621684 - TCGA-B5-A11Y-01 COSM932765 c.1358C>A p.P453Q Substitution - Missense 11:8640582-8640582 - 2521262 COSM5892158 c.2839C>T p.P947S Substitution - Missense 11:8621210-8621210 - TCGA-D1-A16X-01 COSM932774 c.586C>T p.R196C Substitution - Missense 11:8645824-8645824 - 2492721 COSM5721663 c.3380C>T p.S1127F Substitution - Missense 11:8618961-8618961 - UM-SCC-17B COSM3727849 c.1888C>G p.L630V Substitution - Missense 11:8625216-8625216 - TCGA-AD-6889-01 COSM1357567 c.2115C>T p.S705S Substitution - coding silent 11:8624989-8624989 - 2208 COSM5016343 c.3046delA p.S1016fs*2 Deletion - Frameshift 11:8620544-8620544 - SNU-C2B COSM2221847 c.1438C>T p.P480S Substitution - Missense 11:8640502-8640502 - 2149060 COSM3727849 c.1888C>G p.L630V Substitution - Missense 11:8625216-8625216 - SNU-C4 COSM4201430 c.1797G>A p.A599A Substitution - coding silent 11:8638732-8638732 - TCGA-AM-5821-01 COSM3752794 c.434G>A p.R145K Substitution - Missense 11:8646535-8646535 - 587256 COSM1230392 c.3359C>T p.A1120V Substitution - Missense 11:8619396-8619396 - 2293782 COSM4608396 c.1676C>A p.A559E Substitution - Missense 11:8640264-8640264 - LUAD-2GUGK COSM400448 c.1398T>C p.H466H Substitution - coding silent 11:8640542-8640542 - NOKSI COSM3727849 c.1888C>G p.L630V Substitution - Missense 11:8625216-8625216 - TCGA-B5-A0JY-01 COSM932747 c.3647T>C p.V1216A Substitution - Missense 11:8617948-8617948 - SJACT02_D COSM4968344 c.3479A>T p.D1160V Substitution - Missense 11:8618862-8618862 - SW620 COSM2221845 c.1614A>G p.K538K Substitution - coding silent 11:8640326-8640326 - 547 COSM2221842 c.1706C>T p.T569I Substitution - Missense 11:8640234-8640234 - S02290 COSM5686429 c.2010A>T p.V670V Substitution - coding silent 11:8625094-8625094 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.130793;Hs.130836 11p15.4 612000

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.A994S c.2980G>T 11 8642703 BRCA C A Missense p.D1191Y c.3571G>T 11 8640404 SCLC C G Missense p.D274H c.820G>C 11 8662661 BRCA C G Missense p.D610H c.1828G>C 11 8660242 BRCA C G Missense p.E78Q c.232G>C 11 8670021 BRCA C T 3-UTRSNV . c.3735+2317G>A 11 8637177 HC C T Missense p.G279E c.836G>A 11 8662645 BRCA G T Missense p.P451Q c.1352C>A 11 8662129 UCEC T G Synonymous p.P466P c.1398A>C 11 8662083 RCCC