Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 14 23746018 23746018 single base substitution G T downstream_gene_variant BRCA-EU 14 23649611 23649611 single base substitution G A upstream_gene_variant BRCA-EU 14 23650503 23650503 single base substitution A C upstream_gene_variant BRCA-EU 14 23652021 23652021 single base substitution C G upstream_gene_variant BRCA-EU 14 23652655 23652655 insertion of <=200bp - A upstream_gene_variant BRCA-EU 14 23653394 23653394 single base substitution G A upstream_gene_variant BRCA-EU 14 23653453 23653453 single base substitution C G upstream_gene_variant BRCA-EU 14 23653640 23653640 single base substitution T C upstream_gene_variant BRCA-EU 14 23654555 23654555 single base substitution G C 5_prime_UTR_variant BRCA-EU 14 23654555 23654555 single base substitution G C upstream_gene_variant BRCA-EU 14 23655210 23655210 single base substitution G A intron_variant BRCA-EU 14 23656361 23656361 single base substitution C G intron_variant BRCA-EU 14 23657519 23657519 single base substitution C T exon_variant BRCA-EU 14 23657519 23657519 single base substitution C T intron_variant BRCA-EU 14 23657800 23657800 single base substitution C G downstream_gene_variant BRCA-EU 14 23657800 23657800 single base substitution C G intron_variant BRCA-EU 14 23660467 23660467 single base substitution G A downstream_gene_variant BRCA-EU 14 23660467 23660467 single base substitution G A intron_variant BRCA-EU 14 23662746 23662746 single base substitution G A intron_variant BRCA-EU 14 23663295 23663295 single base substitution C T intron_variant BRCA-EU 14 23663837 23663837 single base substitution G A intron_variant BRCA-EU 14 23664375 23664375 single base substitution G A intron_variant BRCA-EU 14 23664515 23664515 single base substitution C G intron_variant BRCA-EU 14 23664974 23664974 single base substitution G C intron_variant BRCA-EU 14 23666412 23666412 single base substitution C G intron_variant BRCA-EU 14 23667030 23667030 single base substitution G A intron_variant BRCA-EU 14 23667814 23667814 single base substitution A G intron_variant BRCA-EU 14 23668789 23668789 single base substitution C G intron_variant BRCA-EU 14 23669682 23669682 single base substitution G A intron_variant BRCA-EU 14 23671880 23671880 single base substitution G A intron_variant BRCA-EU 14 23672861 23672861 single base substitution A G intron_variant BRCA-EU 14 23673380 23673380 single base substitution G T intron_variant BRCA-EU 14 23673650 23673650 single base substitution T C intron_variant BRCA-EU 14 23673678 23673678 single base substitution T A intron_variant BRCA-EU 14 23674290 23674290 single base substitution C G intron_variant BRCA-EU 14 23674509 23674509 single base substitution T A intron_variant BRCA-EU 14 23675293 23675293 deletion of <=200bp T - intron_variant BRCA-EU 14 23676469 23676469 single base substitution T A intron_variant BRCA-EU 14 23679652 23679652 single base substitution G A intron_variant BRCA-EU 14 23681474 23681474 single base substitution C T intron_variant BRCA-EU 14 23681603 23681603 single base substitution C T intron_variant BRCA-EU 14 23681781 23681781 deletion of <=200bp T - intron_variant BRCA-EU 14 23682769 23682769 single base substitution G A intron_variant BRCA-EU 14 23684397 23684397 single base substitution C A intron_variant BRCA-EU 14 23684492 23684492 single base substitution G T intron_variant BRCA-EU 14 23685790 23685790 insertion of <=200bp - T intron_variant BRCA-EU 14 23687040 23687040 single base substitution G T intron_variant BRCA-EU 14 23687812 23687812 single base substitution C T intron_variant BRCA-EU 14 23688578 23688578 single base substitution C G intron_variant BRCA-EU 14 23690808 23690808 single base substitution A C intron_variant BRCA-EU 14 23693430 23693430 single base substitution C G intron_variant BRCA-EU 14 23693891 23693891 single base substitution C T intron_variant BRCA-EU 14 23695358 23695358 single base substitution T C intron_variant BRCA-EU 14 23696146 23696146 insertion of <=200bp - A intron_variant BRCA-EU 14 23696869 23696869 single base substitution G T intron_variant BRCA-EU 14 23698280 23698280 single base substitution A G intron_variant BRCA-EU 14 23698355 23698355 single base substitution G C intron_variant BRCA-EU 14 23699342 23699342 single base substitution G T intron_variant BRCA-EU 14 23702124 23702124 single base substitution C T intron_variant BRCA-EU 14 23704009 23704009 single base substitution G A intron_variant BRCA-EU 14 23704606 23704606 single base substitution T C intron_variant BRCA-EU 14 23704606 23704606 single base substitution T C upstream_gene_variant BRCA-EU 14 23706807 23706807 single base substitution G C intron_variant BRCA-EU 14 23706807 23706807 single base substitution G C upstream_gene_variant BRCA-EU 14 23707131 23707131 single base substitution C A intron_variant BRCA-EU 14 23707131 23707131 single base substitution C A upstream_gene_variant BRCA-EU 14 23707256 23707256 single base substitution G A intron_variant BRCA-EU 14 23707256 23707256 single base substitution G A upstream_gene_variant BRCA-EU 14 23707513 23707513 single base substitution C T intron_variant BRCA-EU 14 23707513 23707513 single base substitution C T upstream_gene_variant BRCA-EU 14 23707534 23707534 single base substitution G A intron_variant BRCA-EU 14 23707534 23707534 single base substitution G A upstream_gene_variant BRCA-EU 14 23707788 23707788 single base substitution A C intron_variant BRCA-EU 14 23707788 23707788 single base substitution A C upstream_gene_variant BRCA-EU 14 23708800 23708800 single base substitution T A intron_variant BRCA-EU 14 23708800 23708800 single base substitution T A upstream_gene_variant BRCA-EU 14 23708837 23708837 insertion of <=200bp - T intron_variant BRCA-EU 14 23708837 23708837 insertion of <=200bp - T upstream_gene_variant BRCA-EU 14 23709605 23709605 single base substitution C T synonymous_variant F17F 51C>T BRCA-EU 14 23710297 23710297 single base substitution G C intron_variant BRCA-EU 14 23710618 23710618 single base substitution G C intron_variant BRCA-EU 14 23711381 23711381 single base substitution C A intron_variant BRCA-EU 14 23711409 23711409 single base substitution C G intron_variant BRCA-EU 14 23712086 23712086 single base substitution G C intron_variant BRCA-EU 14 23712765 23712765 single base substitution C T intron_variant BRCA-EU 14 23715140 23715140 single base substitution G A intron_variant BRCA-EU 14 23715801 23715801 deletion of <=200bp A - intron_variant BRCA-EU 14 23716241 23716241 single base substitution C T intron_variant BRCA-EU 14 23718590 23718590 deletion of <=200bp A - intron_variant BRCA-EU 14 23719283 23719283 single base substitution C T intron_variant BRCA-EU 14 23720528 23720528 single base substitution G C intron_variant BRCA-EU 14 23720658 23720658 single base substitution T G intron_variant BRCA-EU 14 23723822 23723822 single base substitution C G intron_variant BRCA-EU 14 23723822 23723822 single base substitution C G upstream_gene_variant BRCA-EU 14 23724022 23724022 single base substitution C G intron_variant BRCA-EU 14 23724022 23724022 single base substitution C G upstream_gene_variant BRCA-EU 14 23724662 23724662 single base substitution C T intron_variant BRCA-EU 14 23724662 23724662 single base substitution C T upstream_gene_variant BRCA-EU 14 23725519 23725519 deletion of <=200bp C - intron_variant BRCA-EU 14 23725519 23725519 deletion of <=200bp C - upstream_gene_variant BRCA-EU 14 23725520 23725520 single base substitution C A intron_variant BRCA-EU 14 23725520 23725520 single base substitution C A upstream_gene_variant BRCA-EU 14 23725814 23725814 single base substitution C T intron_variant BRCA-EU 14 23725814 23725814 single base substitution C T upstream_gene_variant BRCA-EU 14 23726313 23726313 single base substitution G C intron_variant BRCA-EU 14 23726313 23726313 single base substitution G C upstream_gene_variant BRCA-EU 14 23726514 23726514 single base substitution G A intron_variant BRCA-EU 14 23726514 23726514 single base substitution G A upstream_gene_variant BRCA-EU 14 23727173 23727173 deletion of <=200bp A - intron_variant BRCA-EU 14 23727173 23727173 deletion of <=200bp A - upstream_gene_variant BRCA-EU 14 23729793 23729793 single base substitution G C intron_variant BRCA-EU 14 23729793 23729793 single base substitution G C upstream_gene_variant BRCA-EU 14 23730425 23730425 single base substitution A T intron_variant BRCA-EU 14 23730425 23730425 single base substitution A T upstream_gene_variant BRCA-EU 14 23731235 23731235 single base substitution C T intron_variant BRCA-EU 14 23731235 23731235 single base substitution C T upstream_gene_variant BRCA-EU 14 23732768 23732768 single base substitution G A intron_variant BRCA-EU 14 23733228 23733228 single base substitution C A intron_variant BRCA-EU 14 23736335 23736335 single base substitution G A downstream_gene_variant BRCA-EU 14 23736335 23736335 single base substitution G A intron_variant BRCA-EU 14 23736587 23736587 single base substitution C A downstream_gene_variant BRCA-EU 14 23736587 23736587 single base substitution C A intron_variant BRCA-EU 14 23737397 23737397 single base substitution G T downstream_gene_variant BRCA-EU 14 23737397 23737397 single base substitution G T intron_variant BRCA-EU 14 23739256 23739256 single base substitution G C intron_variant BRCA-EU 14 23739969 23739969 single base substitution A G downstream_gene_variant BRCA-EU 14 23739969 23739969 single base substitution A G intron_variant BRCA-EU 14 23741835 23741835 single base substitution A C downstream_gene_variant BRCA-EU 14 23741835 23741835 single base substitution A C intron_variant BRCA-EU 14 23742531 23742531 single base substitution C A 3_prime_UTR_variant BRCA-EU 14 23742531 23742531 single base substitution C A downstream_gene_variant BRCA-EU 14 23742531 23742531 single base substitution C A intron_variant BRCA-EU 14 23742707 23742707 single base substitution C G downstream_gene_variant BRCA-EU 14 23743054 23743054 single base substitution T C downstream_gene_variant BRCA-EU 14 23743729 23743745 deletion of <=200bp TCGGTGGGGGAAGATTT - downstream_gene_variant BRCA-EU 14 23743980 23743980 single base substitution T C downstream_gene_variant BRCA-EU 14 23745073 23745073 single base substitution G A downstream_gene_variant BRCA-EU 14 23745906 23745906 single base substitution C G downstream_gene_variant BRCA-FR 14 23650503 23650503 single base substitution A C upstream_gene_variant BRCA-FR 14 23653453 23653453 single base substitution C G upstream_gene_variant BRCA-FR 14 23657800 23657800 single base substitution C G downstream_gene_variant BRCA-FR 14 23657800 23657800 single base substitution C G intron_variant BRCA-FR 14 23662882 23662882 single base substitution T A intron_variant BRCA-FR 14 23664515 23664515 single base substitution C G intron_variant BRCA-FR 14 23664974 23664974 single base substitution G C intron_variant BRCA-FR 14 23671880 23671880 single base substitution G A intron_variant BRCA-FR 14 23681194 23681194 single base substitution C A intron_variant BRCA-FR 14 23682769 23682769 single base substitution G A intron_variant BRCA-FR 14 23696869 23696869 single base substitution G T intron_variant BRCA-FR 14 23702124 23702124 single base substitution C T intron_variant BRCA-FR 14 23703367 23703367 single base substitution T A intron_variant BRCA-FR 14 23710297 23710297 single base substitution G C intron_variant BRCA-FR 14 23710618 23710618 single base substitution G C intron_variant BRCA-FR 14 23715140 23715140 single base substitution G A intron_variant BRCA-FR 14 23723822 23723822 single base substitution C G intron_variant BRCA-FR 14 23723822 23723822 single base substitution C G upstream_gene_variant BRCA-FR 14 23729132 23729132 single base substitution G A intron_variant BRCA-FR 14 23729132 23729132 single base substitution G A synonymous_variant K128K 384G>A BRCA-FR 14 23729132 23729132 single base substitution G A upstream_gene_variant BRCA-FR 14 23739256 23739256 single base substitution G C intron_variant BRCA-FR 14 23742531 23742531 single base substitution C A 3_prime_UTR_variant BRCA-FR 14 23742531 23742531 single base substitution C A downstream_gene_variant BRCA-FR 14 23742531 23742531 single base substitution C A intron_variant BRCA-FR 14 23743054 23743054 single base substitution T C downstream_gene_variant BRCA-FR 14 23745906 23745906 single base substitution C G downstream_gene_variant BRCA-UK 14 23663295 23663295 single base substitution C T intron_variant BRCA-UK 14 23673380 23673380 single base substitution G T intron_variant BRCA-UK 14 23707513 23707513 single base substitution C T intron_variant BRCA-UK 14 23707513 23707513 single base substitution C T upstream_gene_variant BRCA-UK 14 23725679 23725679 single base substitution C G intron_variant BRCA-UK 14 23725679 23725679 single base substitution C G upstream_gene_variant BRCA-UK 14 23733989 23733989 single base substitution C T downstream_gene_variant BRCA-UK 14 23733989 23733989 single base substitution C T intron_variant BRCA-UK 14 23743980 23743980 single base substitution T C downstream_gene_variant BRCA-US 14 23745310 23745310 deletion of <=200bp A - downstream_gene_variant BRCA-US 14 23745649 23745649 single base substitution G A downstream_gene_variant BRCA-US 14 23745659 23745659 single base substitution G A downstream_gene_variant BRCA-US 14 23745735 23745735 single base substitution G A downstream_gene_variant BTCA-JP 14 23652129 23652129 single base substitution T C upstream_gene_variant BTCA-JP 14 23709783 23709783 single base substitution G T intron_variant BTCA-JP 14 23731865 23731865 single base substitution C T intron_variant BTCA-JP 14 23731865 23731865 single base substitution C T upstream_gene_variant BTCA-JP 14 23733979 23733979 deletion of <=200bp T - downstream_gene_variant BTCA-JP 14 23733979 23733979 deletion of <=200bp T - intron_variant BTCA-JP 14 23745310 23745310 deletion of <=200bp A - downstream_gene_variant BTCA-JP 14 23746339 23746339 single base substitution C T downstream_gene_variant CESC-US 14 23733863 23733863 single base substitution C T exon_variant CESC-US 14 23733863 23733863 single base substitution C T intron_variant CESC-US 14 23733863 23733863 single base substitution C T missense_variant P206L 617C>T CESC-US 14 23733863 23733863 single base substitution C T missense_variant P70L 209C>T CESC-US 14 23744826 23744826 single base substitution T A downstream_gene_variant CESC-US 14 23744829 23744829 single base substitution C T downstream_gene_variant CESC-US 14 23745586 23745586 single base substitution G A downstream_gene_variant CLLE-ES 14 23657225 23657225 single base substitution C T intron_variant CLLE-ES 14 23744820 23744820 single base substitution A T downstream_gene_variant CLLE-ES 14 23744847 23744847 single base substitution T C downstream_gene_variant COAD-US 14 23652004 23652004 single base substitution G A upstream_gene_variant COAD-US 14 23744823 23744823 single base substitution A T downstream_gene_variant COAD-US 14 23744826 23744826 single base substitution T C downstream_gene_variant COAD-US 14 23744827 23744829 deletion of <=200bp TCC - downstream_gene_variant COAD-US 14 23744829 23744829 single base substitution C T downstream_gene_variant COAD-US 14 23744932 23744932 single base substitution C T downstream_gene_variant COAD-US 14 23745395 23745395 single base substitution C A downstream_gene_variant COAD-US 14 23745677 23745677 single base substitution C T downstream_gene_variant COAD-US 14 23746070 23746070 single base substitution G A downstream_gene_variant COAD-US 14 23746117 23746117 single base substitution C T downstream_gene_variant COCA-CN 14 23692867 23692867 single base substitution C T intron_variant COCA-CN 14 23702104 23702104 single base substitution C T intron_variant COCA-CN 14 23712627 23712627 single base substitution G A intron_variant COCA-CN 14 23712749 23712749 single base substitution T C intron_variant COCA-CN 14 23723506 23723506 single base substitution C A intron_variant COCA-CN 14 23723506 23723506 single base substitution C A upstream_gene_variant COCA-CN 14 23723516 23723516 single base substitution C A intron_variant COCA-CN 14 23723516 23723516 single base substitution C A upstream_gene_variant COCA-CN 14 23727571 23727571 single base substitution T A intron_variant COCA-CN 14 23727571 23727571 single base substitution T A upstream_gene_variant COCA-CN 14 23729927 23729927 single base substitution G T intron_variant COCA-CN 14 23729927 23729927 single base substitution G T upstream_gene_variant COCA-CN 14 23733456 23733456 single base substitution C A intron_variant COCA-CN 14 23733868 23733868 single base substitution G T exon_variant COCA-CN 14 23733868 23733868 single base substitution G T intron_variant COCA-CN 14 23733868 23733868 single base substitution G T missense_variant D208Y 622G>T COCA-CN 14 23733868 23733868 single base substitution G T missense_variant D72Y 214G>T COCA-CN 14 23739051 23739051 single base substitution G A intron_variant COCA-CN 14 23739099 23739099 single base substitution G A exon_variant COCA-CN 14 23739099 23739099 single base substitution G A intron_variant COCA-CN 14 23739099 23739099 single base substitution G A missense_variant D48N 142G>A COCA-CN 14 23739099 23739099 single base substitution G A synonymous_variant G234G 702G>A COCA-CN 14 23739281 23739281 single base substitution T C intron_variant COCA-CN 14 23739926 23739926 single base substitution G A downstream_gene_variant COCA-CN 14 23739926 23739926 single base substitution G A intron_variant COCA-CN 14 23744829 23744829 single base substitution C T downstream_gene_variant ESAD-UK 14 23652449 23652449 single base substitution C T upstream_gene_variant ESAD-UK 14 23653917 23653917 single base substitution G T upstream_gene_variant ESAD-UK 14 23654102 23654102 single base substitution A G upstream_gene_variant ESAD-UK 14 23655551 23655551 single base substitution G C intron_variant ESAD-UK 14 23659922 23659922 single base substitution C T downstream_gene_variant ESAD-UK 14 23659922 23659922 single base substitution C T intron_variant ESAD-UK 14 23661898 23661898 insertion of <=200bp - A downstream_gene_variant ESAD-UK 14 23661898 23661898 insertion of <=200bp - A intron_variant ESAD-UK 14 23663754 23663754 single base substitution C A intron_variant ESAD-UK 14 23666210 23666210 deletion of <=200bp T - intron_variant ESAD-UK 14 23666473 23666473 single base substitution C T intron_variant ESAD-UK 14 23666515 23666515 single base substitution T A intron_variant ESAD-UK 14 23669688 23669688 single base substitution C T intron_variant ESAD-UK 14 23671032 23671032 single base substitution A C intron_variant ESAD-UK 14 23672493 23672493 single base substitution A G intron_variant ESAD-UK 14 23674521 23674521 deletion of <=200bp A - intron_variant ESAD-UK 14 23675088 23675088 single base substitution A G intron_variant ESAD-UK 14 23675504 23675504 single base substitution G A intron_variant ESAD-UK 14 23683542 23683542 single base substitution A T intron_variant ESAD-UK 14 23683774 23683774 single base substitution A T intron_variant ESAD-UK 14 23686994 23686994 single base substitution A G intron_variant ESAD-UK 14 23687772 23687772 single base substitution C T intron_variant ESAD-UK 14 23687845 23687845 single base substitution C T intron_variant ESAD-UK 14 23688343 23688343 single base substitution C A intron_variant ESAD-UK 14 23689528 23689528 single base substitution G T intron_variant ESAD-UK 14 23689850 23689850 single base substitution C T intron_variant ESAD-UK 14 23690032 23690032 insertion of <=200bp - A intron_variant ESAD-UK 14 23690935 23690935 single base substitution C T intron_variant ESAD-UK 14 23692859 23692859 single base substitution C T intron_variant ESAD-UK 14 23693775 23693775 single base substitution G A intron_variant ESAD-UK 14 23693804 23693804 single base substitution A C intron_variant ESAD-UK 14 23694037 23694037 single base substitution G A intron_variant ESAD-UK 14 23695236 23695236 single base substitution C T intron_variant ESAD-UK 14 23695248 23695248 single base substitution C A intron_variant ESAD-UK 14 23695400 23695400 single base substitution G A intron_variant ESAD-UK 14 23695434 23695434 single base substitution G A intron_variant ESAD-UK 14 23695645 23695645 single base substitution C T intron_variant ESAD-UK 14 23696717 23696717 single base substitution A T intron_variant ESAD-UK 14 23696757 23696757 single base substitution G A intron_variant ESAD-UK 14 23696806 23696806 single base substitution A C intron_variant ESAD-UK 14 23697896 23697896 single base substitution G C intron_variant ESAD-UK 14 23701066 23701066 single base substitution G A intron_variant ESAD-UK 14 23701773 23701773 single base substitution C T intron_variant ESAD-UK 14 23701837 23701837 single base substitution G A intron_variant ESAD-UK 14 23703544 23703544 single base substitution T A intron_variant ESAD-UK 14 23703545 23703545 single base substitution A T intron_variant ESAD-UK 14 23703722 23703722 single base substitution C G intron_variant ESAD-UK 14 23703941 23703941 single base substitution C A intron_variant ESAD-UK 14 23704435 23704435 single base substitution A C intron_variant ESAD-UK 14 23705145 23705145 single base substitution C G intron_variant ESAD-UK 14 23705145 23705145 single base substitution C G upstream_gene_variant ESAD-UK 14 23705681 23705681 single base substitution G A intron_variant ESAD-UK 14 23705681 23705681 single base substitution G A upstream_gene_variant ESAD-UK 14 23707086 23707086 single base substitution G T intron_variant ESAD-UK 14 23707086 23707086 single base substitution G T upstream_gene_variant ESAD-UK 14 23708718 23708718 single base substitution C T intron_variant ESAD-UK 14 23708718 23708718 single base substitution C T upstream_gene_variant ESAD-UK 14 23708765 23708765 single base substitution A T intron_variant ESAD-UK 14 23708765 23708765 single base substitution A T upstream_gene_variant ESAD-UK 14 23708766 23708766 single base substitution A T intron_variant ESAD-UK 14 23708766 23708766 single base substitution A T upstream_gene_variant ESAD-UK 14 23709185 23709185 single base substitution A G intron_variant ESAD-UK 14 23709185 23709185 single base substitution A G upstream_gene_variant ESAD-UK 14 23711416 23711416 single base substitution C A intron_variant ESAD-UK 14 23716118 23716118 single base substitution G A intron_variant ESAD-UK 14 23717393 23717393 single base substitution G A intron_variant ESAD-UK 14 23717951 23717951 single base substitution C A intron_variant ESAD-UK 14 23718883 23718883 single base substitution G T intron_variant ESAD-UK 14 23719566 23719566 single base substitution C T intron_variant ESAD-UK 14 23720893 23720893 single base substitution C T intron_variant ESAD-UK 14 23721275 23721275 single base substitution T C intron_variant ESAD-UK 14 23723147 23723147 single base substitution G A intron_variant ESAD-UK 14 23723147 23723147 single base substitution G A upstream_gene_variant ESAD-UK 14 23725800 23725800 single base substitution C T intron_variant ESAD-UK 14 23725800 23725800 single base substitution C T upstream_gene_variant ESAD-UK 14 23727264 23727264 single base substitution G A intron_variant ESAD-UK 14 23727264 23727264 single base substitution G A upstream_gene_variant ESAD-UK 14 23727502 23727502 single base substitution G A intron_variant ESAD-UK 14 23727502 23727502 single base substitution G A upstream_gene_variant ESAD-UK 14 23728663 23728663 single base substitution T G intron_variant ESAD-UK 14 23728663 23728663 single base substitution T G upstream_gene_variant ESAD-UK 14 23730215 23730215 single base substitution T A intron_variant ESAD-UK 14 23730215 23730215 single base substitution T A upstream_gene_variant ESAD-UK 14 23731235 23731235 single base substitution C T intron_variant ESAD-UK 14 23731235 23731235 single base substitution C T upstream_gene_variant ESAD-UK 14 23733398 23733398 single base substitution G A exon_variant ESAD-UK 14 23733398 23733398 single base substitution G A intron_variant ESAD-UK 14 23733398 23733398 single base substitution G A synonymous_variant A180A 540G>A ESAD-UK 14 23733398 23733398 single base substitution G A synonymous_variant A18A 54G>A ESAD-UK 14 23733398 23733398 single base substitution G A synonymous_variant A44A 132G>A ESAD-UK 14 23734804 23734804 single base substitution G A downstream_gene_variant ESAD-UK 14 23734804 23734804 single base substitution G A intron_variant ESAD-UK 14 23735313 23735313 single base substitution A G downstream_gene_variant ESAD-UK 14 23735313 23735313 single base substitution A G intron_variant ESAD-UK 14 23736041 23736041 single base substitution A T downstream_gene_variant ESAD-UK 14 23736041 23736041 single base substitution A T intron_variant ESAD-UK 14 23737356 23737356 single base substitution T G downstream_gene_variant ESAD-UK 14 23737356 23737356 single base substitution T G intron_variant ESAD-UK 14 23739671 23739671 single base substitution C A intron_variant ESAD-UK 14 23740699 23740699 deletion of <=200bp T - downstream_gene_variant ESAD-UK 14 23740699 23740699 deletion of <=200bp T - intron_variant ESAD-UK 14 23741662 23741662 single base substitution C T downstream_gene_variant ESAD-UK 14 23741662 23741662 single base substitution C T intron_variant ESAD-UK 14 23742593 23742593 single base substitution T G 3_prime_UTR_variant ESAD-UK 14 23742593 23742593 single base substitution T G downstream_gene_variant ESAD-UK 14 23742593 23742593 single base substitution T G exon_variant ESAD-UK 14 23743648 23743648 single base substitution G A downstream_gene_variant ESAD-UK 14 23746328 23746328 single base substitution A C downstream_gene_variant ESCA-CN 14 23744820 23744820 single base substitution A T downstream_gene_variant ESCA-CN 14 23744826 23744826 single base substitution T C downstream_gene_variant GBM-US 14 23746303 23746303 single base substitution G A downstream_gene_variant KIRC-US 14 23744912 23744912 single base substitution C G downstream_gene_variant KIRC-US 14 23745517 23745517 insertion of <=200bp - G downstream_gene_variant LAML-KR 14 23661794 23661794 single base substitution G A downstream_gene_variant LAML-KR 14 23661794 23661794 single base substitution G A intron_variant LAML-KR 14 23689988 23689988 single base substitution T C intron_variant LAML-KR 14 23689989 23689989 single base substitution G A intron_variant LAML-KR 14 23727917 23727917 single base substitution T C intron_variant LAML-KR 14 23727917 23727917 single base substitution T C upstream_gene_variant LAML-KR 14 23727919 23727919 single base substitution T C intron_variant LAML-KR 14 23727919 23727919 single base substitution T C upstream_gene_variant LAML-KR 14 23729188 23729188 single base substitution T C intron_variant LAML-KR 14 23729188 23729188 single base substitution T C upstream_gene_variant LAML-KR 14 23744820 23744820 single base substitution A T downstream_gene_variant LAML-KR 14 23746269 23746269 single base substitution C G downstream_gene_variant LICA-CN 14 23745626 23745626 single base substitution T A downstream_gene_variant LICA-FR 14 23650044 23650044 single base substitution T C upstream_gene_variant LICA-FR 14 23655966 23655966 single base substitution G C intron_variant LICA-FR 14 23656057 23656057 single base substitution T A intron_variant LICA-FR 14 23660155 23660155 single base substitution T A downstream_gene_variant LICA-FR 14 23660155 23660155 single base substitution T A intron_variant LICA-FR 14 23668972 23668972 single base substitution C T intron_variant LICA-FR 14 23717512 23717512 insertion of <=200bp - T intron_variant LICA-FR 14 23744827 23744829 deletion of <=200bp TCC - downstream_gene_variant LICA-FR 14 23745769 23745769 single base substitution A C downstream_gene_variant LICA-FR 14 23745997 23745997 single base substitution C A downstream_gene_variant LIHC-US 14 23745570 23745570 single base substitution A G downstream_gene_variant LINC-JP 14 23653511 23653511 single base substitution C T upstream_gene_variant LINC-JP 14 23654451 23654451 insertion of <=200bp - A upstream_gene_variant LINC-JP 14 23656474 23656474 single base substitution A G intron_variant LINC-JP 14 23667956 23667956 single base substitution G T intron_variant LINC-JP 14 23679985 23679985 single base substitution C A intron_variant LINC-JP 14 23692089 23692089 single base substitution C G intron_variant LINC-JP 14 23693971 23693971 single base substitution T C intron_variant LINC-JP 14 23705412 23705412 single base substitution A G intron_variant LINC-JP 14 23705412 23705412 single base substitution A G upstream_gene_variant LINC-JP 14 23712413 23712413 single base substitution A G intron_variant LINC-JP 14 23719660 23719660 single base substitution C G intron_variant LINC-JP 14 23745677 23745677 single base substitution C T downstream_gene_variant LIRI-JP 14 23650200 23650200 single base substitution C A upstream_gene_variant LIRI-JP 14 23650276 23650276 single base substitution G A upstream_gene_variant LIRI-JP 14 23651235 23651235 single base substitution T A upstream_gene_variant LIRI-JP 14 23652823 23652823 single base substitution G A upstream_gene_variant LIRI-JP 14 23654465 23654465 single base substitution A G upstream_gene_variant LIRI-JP 14 23654622 23654622 single base substitution T C 5_prime_UTR_variant LIRI-JP 14 23654622 23654622 single base substitution T C exon_variant LIRI-JP 14 23655306 23655306 single base substitution C T intron_variant LIRI-JP 14 23657508 23657508 single base substitution G T exon_variant LIRI-JP 14 23657508 23657508 single base substitution G T intron_variant LIRI-JP 14 23657702 23657702 single base substitution C G downstream_gene_variant LIRI-JP 14 23657702 23657702 single base substitution C G intron_variant LIRI-JP 14 23658823 23658823 single base substitution G A downstream_gene_variant LIRI-JP 14 23658823 23658823 single base substitution G A intron_variant LIRI-JP 14 23660261 23660261 single base substitution C G downstream_gene_variant LIRI-JP 14 23660261 23660261 single base substitution C G intron_variant LIRI-JP 14 23661563 23661563 single base substitution C G downstream_gene_variant LIRI-JP 14 23661563 23661563 single base substitution C G intron_variant LIRI-JP 14 23664081 23664081 single base substitution C G intron_variant LIRI-JP 14 23664491 23664491 single base substitution A G intron_variant LIRI-JP 14 23666747 23666747 single base substitution C T intron_variant LIRI-JP 14 23671417 23671417 single base substitution G A intron_variant LIRI-JP 14 23671650 23671650 single base substitution T C intron_variant LIRI-JP 14 23675023 23675023 single base substitution A C intron_variant LIRI-JP 14 23675751 23675751 single base substitution A C intron_variant LIRI-JP 14 23678214 23678214 single base substitution G A intron_variant LIRI-JP 14 23679252 23679252 single base substitution G A intron_variant LIRI-JP 14 23680237 23680237 single base substitution G A intron_variant LIRI-JP 14 23680696 23680696 single base substitution G T intron_variant LIRI-JP 14 23681547 23681547 single base substitution T C intron_variant LIRI-JP 14 23681589 23681589 single base substitution A G intron_variant LIRI-JP 14 23682516 23682516 single base substitution C T intron_variant LIRI-JP 14 23686695 23686695 single base substitution C A intron_variant LIRI-JP 14 23687704 23687704 single base substitution G A intron_variant LIRI-JP 14 23692494 23692494 single base substitution C G intron_variant LIRI-JP 14 23693153 23693153 single base substitution C A intron_variant LIRI-JP 14 23695326 23695326 single base substitution G A intron_variant LIRI-JP 14 23695614 23695614 single base substitution C T intron_variant LIRI-JP 14 23697159 23697159 single base substitution G A intron_variant LIRI-JP 14 23698397 23698397 single base substitution A G intron_variant LIRI-JP 14 23704912 23704912 single base substitution G C intron_variant LIRI-JP 14 23704912 23704912 single base substitution G C upstream_gene_variant LIRI-JP 14 23705374 23705374 single base substitution C T intron_variant LIRI-JP 14 23705374 23705374 single base substitution C T upstream_gene_variant LIRI-JP 14 23707193 23707193 single base substitution C G intron_variant LIRI-JP 14 23707193 23707193 single base substitution C G upstream_gene_variant LIRI-JP 14 23711727 23711727 single base substitution G A intron_variant LIRI-JP 14 23713156 23713156 single base substitution A G intron_variant LIRI-JP 14 23716217 23716217 single base substitution C T intron_variant LIRI-JP 14 23717105 23717105 single base substitution T G intron_variant LIRI-JP 14 23718405 23718405 single base substitution C G intron_variant LIRI-JP 14 23720908 23720908 single base substitution C A intron_variant LIRI-JP 14 23727490 23727490 single base substitution T C intron_variant LIRI-JP 14 23727490 23727490 single base substitution T C upstream_gene_variant LIRI-JP 14 23730088 23730088 single base substitution T C intron_variant LIRI-JP 14 23730088 23730088 single base substitution T C upstream_gene_variant LIRI-JP 14 23730560 23730560 single base substitution G A intron_variant LIRI-JP 14 23730560 23730560 single base substitution G A upstream_gene_variant LIRI-JP 14 23732354 23732354 single base substitution A G intron_variant LIRI-JP 14 23733433 23733433 single base substitution G A exon_variant LIRI-JP 14 23733433 23733433 single base substitution G A intron_variant LIRI-JP 14 23733433 23733433 single base substitution G A missense_variant S192N 575G>A LIRI-JP 14 23733433 23733433 single base substitution G A missense_variant S30N 89G>A LIRI-JP 14 23733433 23733433 single base substitution G A missense_variant S56N 167G>A LIRI-JP 14 23739545 23739545 single base substitution C T intron_variant LIRI-JP 14 23740131 23740134 deletion of <=200bp AAGT - downstream_gene_variant LIRI-JP 14 23740131 23740134 deletion of <=200bp AAGT - intron_variant LIRI-JP 14 23740154 23740154 single base substitution T C downstream_gene_variant LIRI-JP 14 23740154 23740154 single base substitution T C intron_variant LIRI-JP 14 23741818 23741818 single base substitution T A downstream_gene_variant LIRI-JP 14 23741818 23741818 single base substitution T A intron_variant LIRI-JP 14 23741819 23741819 single base substitution C T downstream_gene_variant LIRI-JP 14 23741819 23741819 single base substitution C T intron_variant LIRI-JP 14 23743933 23743933 single base substitution G C downstream_gene_variant LIRI-JP 14 23744048 23744048 single base substitution G C downstream_gene_variant LIRI-JP 14 23744801 23744803 deletion of <=200bp CAT - downstream_gene_variant LIRI-JP 14 23745310 23745310 deletion of <=200bp A - downstream_gene_variant LIRI-JP 14 23747024 23747024 single base substitution A C downstream_gene_variant LUSC-KR 14 23651835 23651835 single base substitution G A upstream_gene_variant LUSC-KR 14 23652058 23652058 single base substitution G A upstream_gene_variant LUSC-KR 14 23653676 23653676 single base substitution G T upstream_gene_variant LUSC-KR 14 23658359 23658359 single base substitution G C downstream_gene_variant LUSC-KR 14 23658359 23658359 single base substitution G C intron_variant LUSC-KR 14 23658362 23658362 single base substitution C T downstream_gene_variant LUSC-KR 14 23658362 23658362 single base substitution C T intron_variant LUSC-KR 14 23659429 23659429 single base substitution C A downstream_gene_variant LUSC-KR 14 23659429 23659429 single base substitution C A intron_variant LUSC-KR 14 23659915 23659915 single base substitution C G downstream_gene_variant LUSC-KR 14 23659915 23659915 single base substitution C G intron_variant LUSC-KR 14 23660716 23660716 single base substitution T A downstream_gene_variant LUSC-KR 14 23660716 23660716 single base substitution T A intron_variant LUSC-KR 14 23670153 23670153 single base substitution T C intron_variant LUSC-KR 14 23671095 23671095 single base substitution A T intron_variant LUSC-KR 14 23682460 23682460 single base substitution T C intron_variant LUSC-KR 14 23684398 23684398 single base substitution C A intron_variant LUSC-KR 14 23700534 23700534 single base substitution C G intron_variant LUSC-KR 14 23703825 23703825 single base substitution T A intron_variant LUSC-KR 14 23711306 23711306 single base substitution A G intron_variant LUSC-KR 14 23711312 23711312 single base substitution A G intron_variant LUSC-KR 14 23712479 23712479 single base substitution T G missense_variant C39G 115T>G LUSC-KR 14 23716132 23716132 single base substitution C A intron_variant LUSC-KR 14 23722324 23722324 single base substitution C T intron_variant LUSC-KR 14 23722976 23722976 single base substitution C T intron_variant LUSC-KR 14 23722976 23722976 single base substitution C T upstream_gene_variant LUSC-KR 14 23722984 23722984 single base substitution C T intron_variant LUSC-KR 14 23722984 23722984 single base substitution C T upstream_gene_variant LUSC-KR 14 23723417 23723417 single base substitution C A intron_variant LUSC-KR 14 23723417 23723417 single base substitution C A upstream_gene_variant LUSC-KR 14 23724779 23724779 single base substitution C G intron_variant LUSC-KR 14 23724779 23724779 single base substitution C G upstream_gene_variant LUSC-KR 14 23739806 23739806 single base substitution C T intron_variant LUSC-KR 14 23739806 23739806 single base substitution C T splice_region_variant LUSC-KR 14 23744820 23744820 single base substitution A T downstream_gene_variant LUSC-KR 14 23745432 23745432 single base substitution T C downstream_gene_variant LUSC-US 14 23745067 23745067 single base substitution G C downstream_gene_variant LUSC-US 14 23746063 23746063 single base substitution C A downstream_gene_variant LUSC-US 14 23746090 23746090 single base substitution G T downstream_gene_variant LUSC-US 14 23746113 23746113 single base substitution G A downstream_gene_variant LUSC-US 14 23746292 23746292 single base substitution C T downstream_gene_variant LUSC-US 14 23746358 23746358 single base substitution G A downstream_gene_variant MALY-DE 14 23652408 23652408 single base substitution T G upstream_gene_variant MALY-DE 14 23654329 23654329 single base substitution G T upstream_gene_variant MALY-DE 14 23656579 23656579 single base substitution A C intron_variant MALY-DE 14 23669294 23669294 insertion of <=200bp - TC intron_variant MALY-DE 14 23672365 23672365 single base substitution G A intron_variant MALY-DE 14 23675293 23675293 insertion of <=200bp - T intron_variant MALY-DE 14 23680840 23680840 single base substitution A C intron_variant MALY-DE 14 23681044 23681044 single base substitution G A intron_variant MALY-DE 14 23683325 23683325 single base substitution T A intron_variant MALY-DE 14 23683807 23683807 single base substitution G T intron_variant MALY-DE 14 23694292 23694292 single base substitution A C intron_variant MALY-DE 14 23695166 23695166 single base substitution A C intron_variant MALY-DE 14 23698296 23698296 single base substitution T G intron_variant MALY-DE 14 23698426 23698426 single base substitution A G intron_variant MALY-DE 14 23707563 23707563 single base substitution C T intron_variant MALY-DE 14 23707563 23707563 single base substitution C T upstream_gene_variant MALY-DE 14 23707629 23707630 deletion of <=200bp AC - intron_variant MALY-DE 14 23707629 23707630 deletion of <=200bp AC - upstream_gene_variant MALY-DE 14 23713292 23713292 deletion of <=200bp A - intron_variant MALY-DE 14 23717023 23717023 single base substitution G T intron_variant MALY-DE 14 23719283 23719283 single base substitution C T intron_variant MALY-DE 14 23724528 23724528 single base substitution T C intron_variant MALY-DE 14 23724528 23724528 single base substitution T C upstream_gene_variant MALY-DE 14 23724916 23724916 single base substitution T A intron_variant MALY-DE 14 23724916 23724916 single base substitution T A upstream_gene_variant MALY-DE 14 23726371 23726371 single base substitution A C intron_variant MALY-DE 14 23726371 23726371 single base substitution A C upstream_gene_variant MALY-DE 14 23727446 23727446 single base substitution C A intron_variant MALY-DE 14 23727446 23727446 single base substitution C A upstream_gene_variant MALY-DE 14 23727534 23727534 single base substitution C T intron_variant MALY-DE 14 23727534 23727534 single base substitution C T upstream_gene_variant MALY-DE 14 23728239 23728239 single base substitution T A intron_variant MALY-DE 14 23728239 23728239 single base substitution T A upstream_gene_variant MALY-DE 14 23728584 23728584 single base substitution T C intron_variant MALY-DE 14 23728584 23728584 single base substitution T C upstream_gene_variant MALY-DE 14 23729712 23729712 single base substitution C T intron_variant MALY-DE 14 23729712 23729712 single base substitution C T upstream_gene_variant MALY-DE 14 23740625 23740625 single base substitution C T downstream_gene_variant MALY-DE 14 23740625 23740625 single base substitution C T intron_variant MELA-AU 14 23649723 23649723 single base substitution T C upstream_gene_variant MELA-AU 14 23650027 23650027 single base substitution G T upstream_gene_variant MELA-AU 14 23650171 23650171 single base substitution G T upstream_gene_variant MELA-AU 14 23651848 23651848 single base substitution G A upstream_gene_variant MELA-AU 14 23651942 23651942 single base substitution G A upstream_gene_variant MELA-AU 14 23652449 23652449 single base substitution C T upstream_gene_variant MELA-AU 14 23652845 23652845 single base substitution C T upstream_gene_variant MELA-AU 14 23653487 23653487 single base substitution C T upstream_gene_variant MELA-AU 14 23655815 23655815 single base substitution C T intron_variant MELA-AU 14 23656266 23656266 single base substitution C T intron_variant MELA-AU 14 23656683 23656683 single base substitution G A intron_variant MELA-AU 14 23657277 23657277 single base substitution G A intron_variant MELA-AU 14 23657292 23657292 single base substitution A T intron_variant MELA-AU 14 23657292 23657292 single base substitution A T splice_acceptor_variant MELA-AU 14 23657426 23657426 single base substitution C T exon_variant MELA-AU 14 23657426 23657426 single base substitution C T intron_variant MELA-AU 14 23658441 23658441 single base substitution G A downstream_gene_variant MELA-AU 14 23658441 23658441 single base substitution G A intron_variant MELA-AU 14 23659386 23659386 single base substitution C T downstream_gene_variant MELA-AU 14 23659386 23659386 single base substitution C T intron_variant MELA-AU 14 23659419 23659419 single base substitution C T downstream_gene_variant MELA-AU 14 23659419 23659419 single base substitution C T intron_variant MELA-AU 14 23659762 23659762 single base substitution C T downstream_gene_variant MELA-AU 14 23659762 23659762 single base substitution C T intron_variant MELA-AU 14 23659876 23659876 single base substitution C T downstream_gene_variant MELA-AU 14 23659876 23659876 single base substitution C T intron_variant MELA-AU 14 23660095 23660095 single base substitution C T downstream_gene_variant MELA-AU 14 23660095 23660095 single base substitution C T intron_variant MELA-AU 14 23660184 23660184 single base substitution G A downstream_gene_variant MELA-AU 14 23660184 23660184 single base substitution G A intron_variant MELA-AU 14 23660289 23660289 single base substitution G A downstream_gene_variant MELA-AU 14 23660289 23660289 single base substitution G A intron_variant MELA-AU 14 23661196 23661196 single base substitution C T downstream_gene_variant MELA-AU 14 23661196 23661196 single base substitution C T intron_variant MELA-AU 14 23661550 23661550 single base substitution G A downstream_gene_variant MELA-AU 14 23661550 23661550 single base substitution G A intron_variant MELA-AU 14 23661762 23661762 single base substitution G A downstream_gene_variant MELA-AU 14 23661762 23661762 single base substitution G A intron_variant MELA-AU 14 23661767 23661767 single base substitution G A downstream_gene_variant MELA-AU 14 23661767 23661767 single base substitution G A intron_variant MELA-AU 14 23663196 23663196 single base substitution G A intron_variant MELA-AU 14 23663738 23663738 single base substitution G A intron_variant MELA-AU 14 23663921 23663921 single base substitution G A intron_variant MELA-AU 14 23664057 23664057 single base substitution G A intron_variant MELA-AU 14 23664396 23664396 single base substitution G A intron_variant MELA-AU 14 23664429 23664429 single base substitution G A intron_variant MELA-AU 14 23664488 23664488 single base substitution C A intron_variant MELA-AU 14 23665192 23665192 single base substitution A T intron_variant MELA-AU 14 23665674 23665674 single base substitution G A intron_variant MELA-AU 14 23665692 23665693 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 23666333 23666333 single base substitution G A intron_variant MELA-AU 14 23666379 23666379 single base substitution C T intron_variant MELA-AU 14 23667069 23667069 single base substitution G A intron_variant MELA-AU 14 23667119 23667119 single base substitution T G intron_variant MELA-AU 14 23667285 23667285 single base substitution C T intron_variant MELA-AU 14 23667482 23667482 single base substitution G A intron_variant MELA-AU 14 23667759 23667759 single base substitution C T intron_variant MELA-AU 14 23667808 23667808 single base substitution C T intron_variant MELA-AU 14 23668075 23668075 single base substitution G A intron_variant MELA-AU 14 23668078 23668078 single base substitution G T intron_variant MELA-AU 14 23668736 23668736 single base substitution C T intron_variant MELA-AU 14 23669111 23669111 single base substitution G A intron_variant MELA-AU 14 23669754 23669754 single base substitution C T intron_variant MELA-AU 14 23670028 23670028 single base substitution C T intron_variant MELA-AU 14 23670164 23670164 single base substitution A G intron_variant MELA-AU 14 23670301 23670301 single base substitution A C intron_variant MELA-AU 14 23670686 23670686 single base substitution G A intron_variant MELA-AU 14 23670707 23670707 single base substitution A G intron_variant MELA-AU 14 23671059 23671059 single base substitution G A intron_variant MELA-AU 14 23671342 23671342 single base substitution C A intron_variant MELA-AU 14 23672046 23672046 single base substitution G A intron_variant MELA-AU 14 23672361 23672361 single base substitution C G intron_variant MELA-AU 14 23672551 23672551 single base substitution C T intron_variant MELA-AU 14 23672879 23672879 single base substitution G A intron_variant MELA-AU 14 23672886 23672886 single base substitution C T intron_variant MELA-AU 14 23672957 23672957 single base substitution G A intron_variant MELA-AU 14 23673311 23673311 single base substitution C T intron_variant MELA-AU 14 23673752 23673752 single base substitution G A intron_variant MELA-AU 14 23674101 23674101 single base substitution C T intron_variant MELA-AU 14 23674175 23674175 single base substitution G A intron_variant MELA-AU 14 23674212 23674212 single base substitution T A intron_variant MELA-AU 14 23674440 23674440 single base substitution C T intron_variant MELA-AU 14 23674494 23674494 single base substitution T A intron_variant MELA-AU 14 23674527 23674527 single base substitution T A intron_variant MELA-AU 14 23674620 23674620 single base substitution C T intron_variant MELA-AU 14 23674754 23674754 single base substitution G A intron_variant MELA-AU 14 23674860 23674860 single base substitution G A intron_variant MELA-AU 14 23674938 23674938 single base substitution C T intron_variant MELA-AU 14 23675754 23675754 single base substitution C T intron_variant MELA-AU 14 23675863 23675863 single base substitution G A intron_variant MELA-AU 14 23675959 23675959 single base substitution C T intron_variant MELA-AU 14 23676118 23676118 single base substitution C T intron_variant MELA-AU 14 23676463 23676463 single base substitution A T intron_variant MELA-AU 14 23676570 23676570 single base substitution C T intron_variant MELA-AU 14 23677306 23677306 single base substitution C T intron_variant MELA-AU 14 23677544 23677544 single base substitution A G intron_variant MELA-AU 14 23677757 23677757 single base substitution G A intron_variant MELA-AU 14 23677948 23677948 single base substitution C A intron_variant MELA-AU 14 23678334 23678334 single base substitution C G intron_variant MELA-AU 14 23678360 23678360 single base substitution C T intron_variant MELA-AU 14 23679664 23679664 single base substitution G A intron_variant MELA-AU 14 23679682 23679682 single base substitution A T intron_variant MELA-AU 14 23680294 23680294 single base substitution G A intron_variant MELA-AU 14 23680486 23680486 single base substitution C T intron_variant MELA-AU 14 23680729 23680729 single base substitution A C intron_variant MELA-AU 14 23681005 23681005 single base substitution C T intron_variant MELA-AU 14 23681022 23681022 single base substitution C T intron_variant MELA-AU 14 23681039 23681039 single base substitution C T intron_variant MELA-AU 14 23681241 23681241 single base substitution A C intron_variant MELA-AU 14 23681280 23681280 single base substitution C T intron_variant MELA-AU 14 23681552 23681552 single base substitution C T intron_variant MELA-AU 14 23681684 23681684 single base substitution T A intron_variant MELA-AU 14 23681772 23681772 single base substitution T C intron_variant MELA-AU 14 23681999 23681999 single base substitution T C intron_variant MELA-AU 14 23682067 23682067 single base substitution C T intron_variant MELA-AU 14 23682116 23682116 single base substitution T A intron_variant MELA-AU 14 23682345 23682345 single base substitution C T intron_variant MELA-AU 14 23682359 23682359 single base substitution A C intron_variant MELA-AU 14 23682517 23682517 single base substitution G A intron_variant MELA-AU 14 23682655 23682655 single base substitution G C intron_variant MELA-AU 14 23682851 23682851 single base substitution G A intron_variant MELA-AU 14 23683657 23683657 single base substitution T G intron_variant MELA-AU 14 23683671 23683671 single base substitution C T intron_variant MELA-AU 14 23683855 23683855 single base substitution G A intron_variant MELA-AU 14 23683874 23683874 single base substitution G A intron_variant MELA-AU 14 23684288 23684288 single base substitution G A intron_variant MELA-AU 14 23684417 23684417 single base substitution C T intron_variant MELA-AU 14 23684531 23684531 single base substitution C T intron_variant MELA-AU 14 23684697 23684697 single base substitution G A intron_variant MELA-AU 14 23684750 23684750 single base substitution G A intron_variant MELA-AU 14 23684830 23684830 single base substitution C T intron_variant MELA-AU 14 23684958 23684958 single base substitution G A intron_variant MELA-AU 14 23685068 23685068 single base substitution T A intron_variant MELA-AU 14 23685124 23685124 single base substitution T C intron_variant MELA-AU 14 23685318 23685318 single base substitution G A intron_variant MELA-AU 14 23685374 23685374 single base substitution G A intron_variant MELA-AU 14 23686223 23686223 single base substitution G A intron_variant MELA-AU 14 23686276 23686276 single base substitution G A intron_variant MELA-AU 14 23686656 23686657 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 14 23686893 23686893 single base substitution C T intron_variant MELA-AU 14 23686999 23686999 single base substitution G A intron_variant MELA-AU 14 23687141 23687141 single base substitution T G intron_variant MELA-AU 14 23687617 23687617 single base substitution C T intron_variant MELA-AU 14 23687823 23687823 single base substitution G A intron_variant MELA-AU 14 23688540 23688540 single base substitution G A intron_variant MELA-AU 14 23689172 23689172 single base substitution C T intron_variant MELA-AU 14 23689394 23689394 single base substitution G A intron_variant MELA-AU 14 23689624 23689624 single base substitution C T intron_variant MELA-AU 14 23689854 23689854 single base substitution G A intron_variant MELA-AU 14 23690183 23690183 single base substitution A G intron_variant MELA-AU 14 23690269 23690269 single base substitution G A intron_variant MELA-AU 14 23690600 23690600 single base substitution G A intron_variant MELA-AU 14 23690936 23690936 single base substitution G A intron_variant MELA-AU 14 23691068 23691068 single base substitution G A intron_variant MELA-AU 14 23691209 23691209 single base substitution G A intron_variant MELA-AU 14 23691812 23691812 single base substitution G A intron_variant MELA-AU 14 23692853 23692853 single base substitution C T intron_variant MELA-AU 14 23693107 23693107 single base substitution G A intron_variant MELA-AU 14 23693226 23693226 single base substitution G A intron_variant MELA-AU 14 23693311 23693311 single base substitution A T intron_variant MELA-AU 14 23693448 23693448 single base substitution A C intron_variant MELA-AU 14 23693461 23693461 single base substitution C T intron_variant MELA-AU 14 23693531 23693531 single base substitution G A intron_variant MELA-AU 14 23693876 23693876 single base substitution G A intron_variant MELA-AU 14 23693877 23693877 single base substitution G A intron_variant MELA-AU 14 23693932 23693932 single base substitution C T intron_variant MELA-AU 14 23694095 23694095 single base substitution G A intron_variant MELA-AU 14 23694124 23694124 single base substitution C T intron_variant MELA-AU 14 23694272 23694272 single base substitution C T intron_variant MELA-AU 14 23694340 23694340 single base substitution C T intron_variant MELA-AU 14 23694803 23694803 single base substitution G A intron_variant MELA-AU 14 23695227 23695227 single base substitution G A intron_variant MELA-AU 14 23695402 23695402 single base substitution G A intron_variant MELA-AU 14 23695404 23695404 single base substitution G A intron_variant MELA-AU 14 23695600 23695600 single base substitution G A intron_variant MELA-AU 14 23695612 23695612 single base substitution G A intron_variant MELA-AU 14 23695677 23695677 single base substitution A T intron_variant MELA-AU 14 23695764 23695764 single base substitution C T intron_variant MELA-AU 14 23695794 23695794 single base substitution C T intron_variant MELA-AU 14 23695964 23695964 single base substitution C T intron_variant MELA-AU 14 23696035 23696035 single base substitution T A intron_variant MELA-AU 14 23696248 23696248 single base substitution G A intron_variant MELA-AU 14 23696468 23696468 single base substitution C T intron_variant MELA-AU 14 23696475 23696475 single base substitution C T intron_variant MELA-AU 14 23696823 23696823 single base substitution T C intron_variant MELA-AU 14 23697501 23697501 single base substitution G A intron_variant MELA-AU 14 23698408 23698408 single base substitution C T intron_variant MELA-AU 14 23698470 23698470 single base substitution T C intron_variant MELA-AU 14 23698677 23698677 single base substitution T C intron_variant MELA-AU 14 23700280 23700280 single base substitution C T intron_variant MELA-AU 14 23700325 23700325 single base substitution T G intron_variant MELA-AU 14 23700584 23700584 single base substitution T C intron_variant MELA-AU 14 23700779 23700779 single base substitution C T intron_variant MELA-AU 14 23700821 23700821 single base substitution C T intron_variant MELA-AU 14 23701131 23701132 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 23701248 23701248 single base substitution G A intron_variant MELA-AU 14 23701808 23701808 single base substitution G A intron_variant MELA-AU 14 23701893 23701893 single base substitution G A intron_variant MELA-AU 14 23701984 23701984 single base substitution G A intron_variant MELA-AU 14 23702076 23702076 single base substitution G A intron_variant MELA-AU 14 23703053 23703053 single base substitution C T intron_variant MELA-AU 14 23703103 23703103 single base substitution C T intron_variant MELA-AU 14 23703125 23703125 single base substitution G A intron_variant MELA-AU 14 23703458 23703458 single base substitution G A intron_variant MELA-AU 14 23703506 23703506 single base substitution C T intron_variant MELA-AU 14 23703593 23703593 single base substitution G A intron_variant MELA-AU 14 23703783 23703783 single base substitution A G intron_variant MELA-AU 14 23703940 23703940 single base substitution C T intron_variant MELA-AU 14 23704116 23704116 single base substitution C T intron_variant MELA-AU 14 23704145 23704145 single base substitution G A intron_variant MELA-AU 14 23706408 23706409 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 23706408 23706409 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 14 23706608 23706608 single base substitution G A intron_variant MELA-AU 14 23706608 23706608 single base substitution G A upstream_gene_variant MELA-AU 14 23706938 23706938 single base substitution C T intron_variant MELA-AU 14 23706938 23706938 single base substitution C T upstream_gene_variant MELA-AU 14 23707805 23707805 single base substitution G A intron_variant MELA-AU 14 23707805 23707805 single base substitution G A upstream_gene_variant MELA-AU 14 23707830 23707830 single base substitution C T intron_variant MELA-AU 14 23707830 23707830 single base substitution C T upstream_gene_variant MELA-AU 14 23708270 23708270 single base substitution G A intron_variant MELA-AU 14 23708270 23708270 single base substitution G A upstream_gene_variant MELA-AU 14 23708322 23708322 single base substitution G C intron_variant MELA-AU 14 23708322 23708322 single base substitution G C upstream_gene_variant MELA-AU 14 23708597 23708597 single base substitution A T intron_variant MELA-AU 14 23708597 23708597 single base substitution A T upstream_gene_variant MELA-AU 14 23708603 23708603 single base substitution C T intron_variant MELA-AU 14 23708603 23708603 single base substitution C T upstream_gene_variant MELA-AU 14 23708769 23708769 single base substitution G A intron_variant MELA-AU 14 23708769 23708769 single base substitution G A upstream_gene_variant MELA-AU 14 23708826 23708826 single base substitution T C intron_variant MELA-AU 14 23708826 23708826 single base substitution T C upstream_gene_variant MELA-AU 14 23708836 23708836 single base substitution C T intron_variant MELA-AU 14 23708836 23708836 single base substitution C T upstream_gene_variant MELA-AU 14 23708907 23708907 single base substitution A G intron_variant MELA-AU 14 23708907 23708907 single base substitution A G upstream_gene_variant MELA-AU 14 23709333 23709333 single base substitution T C intron_variant MELA-AU 14 23709333 23709333 single base substitution T C upstream_gene_variant MELA-AU 14 23709427 23709427 single base substitution C T intron_variant MELA-AU 14 23709427 23709427 single base substitution C T upstream_gene_variant MELA-AU 14 23711306 23711306 single base substitution A G intron_variant MELA-AU 14 23711311 23711311 single base substitution A G intron_variant MELA-AU 14 23711454 23711454 single base substitution G A intron_variant MELA-AU 14 23712113 23712113 single base substitution G A intron_variant MELA-AU 14 23712800 23712800 single base substitution G A intron_variant MELA-AU 14 23713355 23713355 single base substitution G A intron_variant MELA-AU 14 23714018 23714018 single base substitution A G intron_variant MELA-AU 14 23714138 23714138 single base substitution T C intron_variant MELA-AU 14 23714210 23714210 single base substitution G A intron_variant MELA-AU 14 23715117 23715117 single base substitution C T intron_variant MELA-AU 14 23715485 23715485 single base substitution C T intron_variant MELA-AU 14 23716072 23716072 single base substitution G A intron_variant MELA-AU 14 23716109 23716109 single base substitution G A intron_variant MELA-AU 14 23717587 23717587 single base substitution C T intron_variant MELA-AU 14 23717598 23717598 single base substitution C T intron_variant MELA-AU 14 23717767 23717767 single base substitution C T intron_variant MELA-AU 14 23717808 23717808 single base substitution A C intron_variant MELA-AU 14 23718071 23718071 single base substitution G A intron_variant MELA-AU 14 23718440 23718440 single base substitution C T intron_variant MELA-AU 14 23718835 23718835 single base substitution G A intron_variant MELA-AU 14 23720023 23720023 single base substitution C T intron_variant MELA-AU 14 23720170 23720170 single base substitution G A intron_variant MELA-AU 14 23720626 23720626 single base substitution T C intron_variant MELA-AU 14 23720741 23720741 single base substitution G A intron_variant MELA-AU 14 23720899 23720899 single base substitution C T intron_variant MELA-AU 14 23721479 23721479 single base substitution G A intron_variant MELA-AU 14 23721580 23721580 single base substitution G A intron_variant MELA-AU 14 23721957 23721957 single base substitution A C intron_variant MELA-AU 14 23722744 23722744 insertion of <=200bp - GAA intron_variant MELA-AU 14 23722744 23722744 insertion of <=200bp - GAA upstream_gene_variant MELA-AU 14 23723405 23723405 single base substitution G A intron_variant MELA-AU 14 23723405 23723405 single base substitution G A upstream_gene_variant MELA-AU 14 23723421 23723421 single base substitution G A intron_variant MELA-AU 14 23723421 23723421 single base substitution G A upstream_gene_variant MELA-AU 14 23723531 23723531 single base substitution A C intron_variant MELA-AU 14 23723531 23723531 single base substitution A C upstream_gene_variant MELA-AU 14 23724004 23724004 single base substitution C T intron_variant MELA-AU 14 23724004 23724004 single base substitution C T upstream_gene_variant MELA-AU 14 23724212 23724212 single base substitution G A intron_variant MELA-AU 14 23724212 23724212 single base substitution G A upstream_gene_variant MELA-AU 14 23724597 23724597 single base substitution A C intron_variant MELA-AU 14 23724597 23724597 single base substitution A C upstream_gene_variant MELA-AU 14 23724975 23724975 single base substitution G A intron_variant MELA-AU 14 23724975 23724975 single base substitution G A upstream_gene_variant MELA-AU 14 23725690 23725690 single base substitution C A intron_variant MELA-AU 14 23725690 23725690 single base substitution C A upstream_gene_variant MELA-AU 14 23727796 23727796 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 14 23727796 23727796 single base substitution C T intron_variant MELA-AU 14 23727796 23727796 single base substitution C T synonymous_variant I13I 39C>T MELA-AU 14 23727796 23727796 single base substitution C T synonymous_variant I89I 267C>T MELA-AU 14 23727796 23727796 single base substitution C T upstream_gene_variant MELA-AU 14 23728016 23728016 single base substitution C T intron_variant MELA-AU 14 23728016 23728016 single base substitution C T upstream_gene_variant MELA-AU 14 23728430 23728430 single base substitution C T intron_variant MELA-AU 14 23728430 23728430 single base substitution C T upstream_gene_variant MELA-AU 14 23728867 23728867 single base substitution C T intron_variant MELA-AU 14 23728867 23728867 single base substitution C T upstream_gene_variant MELA-AU 14 23729304 23729304 single base substitution G A intron_variant MELA-AU 14 23729304 23729304 single base substitution G A upstream_gene_variant MELA-AU 14 23729877 23729877 single base substitution A G intron_variant MELA-AU 14 23729877 23729877 single base substitution A G missense_variant S139G 415A>G MELA-AU 14 23729877 23729877 single base substitution A G upstream_gene_variant MELA-AU 14 23729882 23729882 single base substitution G A intron_variant MELA-AU 14 23729882 23729882 single base substitution G A synonymous_variant R140R 420G>A MELA-AU 14 23729882 23729882 single base substitution G A upstream_gene_variant MELA-AU 14 23730118 23730118 single base substitution C T intron_variant MELA-AU 14 23730118 23730118 single base substitution C T upstream_gene_variant MELA-AU 14 23730359 23730359 single base substitution G A intron_variant MELA-AU 14 23730359 23730359 single base substitution G A upstream_gene_variant MELA-AU 14 23730551 23730551 single base substitution C T intron_variant MELA-AU 14 23730551 23730551 single base substitution C T upstream_gene_variant MELA-AU 14 23731170 23731170 single base substitution C T intron_variant MELA-AU 14 23731170 23731170 single base substitution C T upstream_gene_variant MELA-AU 14 23731176 23731176 single base substitution C T intron_variant MELA-AU 14 23731176 23731176 single base substitution C T upstream_gene_variant MELA-AU 14 23731532 23731532 single base substitution A G intron_variant MELA-AU 14 23731532 23731532 single base substitution A G upstream_gene_variant MELA-AU 14 23731773 23731773 single base substitution G A intron_variant MELA-AU 14 23731773 23731773 single base substitution G A upstream_gene_variant MELA-AU 14 23731841 23731841 single base substitution G A intron_variant MELA-AU 14 23731841 23731841 single base substitution G A upstream_gene_variant MELA-AU 14 23732587 23732587 single base substitution A T intron_variant MELA-AU 14 23732735 23732735 single base substitution G A intron_variant MELA-AU 14 23732873 23732873 single base substitution G A intron_variant MELA-AU 14 23732895 23732895 single base substitution G A intron_variant MELA-AU 14 23733005 23733005 single base substitution G A intron_variant MELA-AU 14 23733095 23733095 single base substitution G A intron_variant MELA-AU 14 23733272 23733272 single base substitution G A intron_variant MELA-AU 14 23734017 23734017 single base substitution A G downstream_gene_variant MELA-AU 14 23734017 23734017 single base substitution A G intron_variant MELA-AU 14 23734485 23734485 single base substitution G A downstream_gene_variant MELA-AU 14 23734485 23734485 single base substitution G A intron_variant MELA-AU 14 23734666 23734666 single base substitution G A downstream_gene_variant MELA-AU 14 23734666 23734666 single base substitution G A intron_variant MELA-AU 14 23734955 23734955 single base substitution C T downstream_gene_variant MELA-AU 14 23734955 23734955 single base substitution C T intron_variant MELA-AU 14 23735622 23735622 single base substitution T G downstream_gene_variant MELA-AU 14 23735622 23735622 single base substitution T G intron_variant MELA-AU 14 23735917 23735917 single base substitution G A downstream_gene_variant MELA-AU 14 23735917 23735917 single base substitution G A intron_variant MELA-AU 14 23735976 23735977 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 14 23735976 23735977 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 23736283 23736283 single base substitution T A downstream_gene_variant MELA-AU 14 23736283 23736283 single base substitution T A intron_variant MELA-AU 14 23736459 23736460 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 14 23736459 23736460 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 23737030 23737030 single base substitution T A downstream_gene_variant MELA-AU 14 23737030 23737030 single base substitution T A intron_variant MELA-AU 14 23737304 23737304 single base substitution G A downstream_gene_variant MELA-AU 14 23737304 23737304 single base substitution G A intron_variant MELA-AU 14 23737469 23737469 single base substitution A C downstream_gene_variant MELA-AU 14 23737469 23737469 single base substitution A C intron_variant MELA-AU 14 23737717 23737717 single base substitution A G downstream_gene_variant MELA-AU 14 23737717 23737717 single base substitution A G intron_variant MELA-AU 14 23737749 23737749 single base substitution G A downstream_gene_variant MELA-AU 14 23737749 23737749 single base substitution G A intron_variant MELA-AU 14 23738216 23738216 single base substitution T C downstream_gene_variant MELA-AU 14 23738216 23738216 single base substitution T C intron_variant MELA-AU 14 23738713 23738713 single base substitution G A downstream_gene_variant MELA-AU 14 23738713 23738713 single base substitution G A intron_variant MELA-AU 14 23739077 23739077 single base substitution C T exon_variant MELA-AU 14 23739077 23739077 single base substitution C T intron_variant MELA-AU 14 23739077 23739077 single base substitution C T missense_variant S227L 680C>T MELA-AU 14 23739697 23739697 single base substitution C T intron_variant MELA-AU 14 23740558 23740560 deletion of <=200bp AGG - downstream_gene_variant MELA-AU 14 23740558 23740560 deletion of <=200bp AGG - intron_variant MELA-AU 14 23740801 23740801 single base substitution G T downstream_gene_variant MELA-AU 14 23740801 23740801 single base substitution G T intron_variant MELA-AU 14 23741103 23741103 single base substitution G A downstream_gene_variant MELA-AU 14 23741103 23741103 single base substitution G A intron_variant MELA-AU 14 23741611 23741611 single base substitution G A downstream_gene_variant MELA-AU 14 23741611 23741611 single base substitution G A intron_variant MELA-AU 14 23741681 23741681 single base substitution T A downstream_gene_variant MELA-AU 14 23741681 23741681 single base substitution T A intron_variant MELA-AU 14 23742409 23742409 single base substitution G A 3_prime_UTR_variant MELA-AU 14 23742409 23742409 single base substitution G A downstream_gene_variant MELA-AU 14 23742409 23742409 single base substitution G A intron_variant MELA-AU 14 23742747 23742747 single base substitution C A downstream_gene_variant MELA-AU 14 23743203 23743203 single base substitution A T downstream_gene_variant MELA-AU 14 23743206 23743206 single base substitution G A downstream_gene_variant MELA-AU 14 23743527 23743527 single base substitution G A downstream_gene_variant MELA-AU 14 23743554 23743554 single base substitution A G downstream_gene_variant MELA-AU 14 23744091 23744091 single base substitution G A downstream_gene_variant MELA-AU 14 23744993 23744994 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 14 23745062 23745062 single base substitution G A downstream_gene_variant MELA-AU 14 23745155 23745155 single base substitution G A downstream_gene_variant MELA-AU 14 23745318 23745318 single base substitution G A downstream_gene_variant MELA-AU 14 23745518 23745519 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 14 23745673 23745673 single base substitution G A downstream_gene_variant MELA-AU 14 23746299 23746299 single base substitution T C downstream_gene_variant MELA-AU 14 23746484 23746484 single base substitution G A downstream_gene_variant MELA-AU 14 23746591 23746591 single base substitution C T downstream_gene_variant MELA-AU 14 23747083 23747083 single base substitution G A downstream_gene_variant MELA-AU 14 23747479 23747479 single base substitution C T downstream_gene_variant ORCA-IN 14 23655103 23655103 single base substitution G T intron_variant ORCA-IN 14 23679923 23679923 single base substitution T G intron_variant ORCA-IN 14 23709257 23709257 deletion of <=200bp T - intron_variant ORCA-IN 14 23709257 23709257 deletion of <=200bp T - upstream_gene_variant ORCA-IN 14 23736863 23736863 single base substitution C G downstream_gene_variant ORCA-IN 14 23736863 23736863 single base substitution C G intron_variant ORCA-IN 14 23744312 23744312 single base substitution C T downstream_gene_variant OV-AU 14 23660822 23660822 single base substitution G T downstream_gene_variant OV-AU 14 23660822 23660822 single base substitution G T intron_variant OV-AU 14 23660850 23660850 single base substitution A T downstream_gene_variant OV-AU 14 23660850 23660850 single base substitution A T intron_variant OV-AU 14 23664142 23664142 single base substitution G A intron_variant OV-AU 14 23664922 23664922 single base substitution G C intron_variant OV-AU 14 23673660 23673660 single base substitution C T intron_variant OV-AU 14 23681215 23681215 single base substitution G T intron_variant OV-AU 14 23681779 23681779 single base substitution T C intron_variant OV-AU 14 23682928 23682928 single base substitution G C intron_variant OV-AU 14 23685345 23685345 single base substitution C T intron_variant OV-AU 14 23686673 23686673 single base substitution T G intron_variant OV-AU 14 23687277 23687277 single base substitution T A intron_variant OV-AU 14 23689159 23689159 single base substitution G A intron_variant OV-AU 14 23692003 23692003 single base substitution T G intron_variant OV-AU 14 23699118 23699118 single base substitution G C intron_variant OV-AU 14 23716087 23716087 single base substitution C T intron_variant OV-AU 14 23718507 23718507 single base substitution C T intron_variant OV-AU 14 23719878 23719878 single base substitution A G intron_variant OV-AU 14 23724119 23724119 single base substitution A T intron_variant OV-AU 14 23724119 23724119 single base substitution A T upstream_gene_variant OV-AU 14 23729331 23729331 single base substitution C A intron_variant OV-AU 14 23729331 23729331 single base substitution C A upstream_gene_variant OV-AU 14 23741347 23741347 single base substitution C G downstream_gene_variant OV-AU 14 23741347 23741347 single base substitution C G intron_variant OV-AU 14 23743584 23743584 single base substitution C T downstream_gene_variant PACA-AU 14 23649616 23649616 single base substitution G C upstream_gene_variant PACA-AU 14 23659922 23659922 single base substitution C T downstream_gene_variant PACA-AU 14 23659922 23659922 single base substitution C T intron_variant PACA-AU 14 23660036 23660036 single base substitution G A downstream_gene_variant PACA-AU 14 23660036 23660036 single base substitution G A intron_variant PACA-AU 14 23676044 23676047 deletion of <=200bp AAAC - intron_variant PACA-AU 14 23676163 23676163 insertion of <=200bp - A intron_variant PACA-AU 14 23678247 23678247 single base substitution G A intron_variant PACA-AU 14 23680549 23680549 single base substitution C T intron_variant PACA-AU 14 23681226 23681226 single base substitution C T intron_variant PACA-AU 14 23682517 23682517 single base substitution G A intron_variant PACA-AU 14 23683998 23683998 deletion of <=200bp A - intron_variant PACA-AU 14 23689395 23689400 deletion of <=200bp AAAAAC - intron_variant PACA-AU 14 23692796 23692796 single base substitution C G intron_variant PACA-AU 14 23694248 23694248 single base substitution A T intron_variant PACA-AU 14 23694286 23694287 deletion of <=200bp CA - intron_variant PACA-AU 14 23696450 23696450 single base substitution C T intron_variant PACA-AU 14 23698439 23698439 single base substitution A G intron_variant PACA-AU 14 23699371 23699372 deletion of <=200bp AG - intron_variant PACA-AU 14 23699592 23699592 single base substitution G A intron_variant PACA-AU 14 23699779 23699779 single base substitution C T intron_variant PACA-AU 14 23701613 23701613 single base substitution C T intron_variant PACA-AU 14 23704121 23704121 deletion of <=200bp A - intron_variant PACA-AU 14 23709317 23709317 single base substitution C T intron_variant PACA-AU 14 23709317 23709317 single base substitution C T upstream_gene_variant PACA-AU 14 23714787 23714787 single base substitution C A intron_variant PACA-AU 14 23716653 23716653 deletion of <=200bp A - intron_variant PACA-AU 14 23720102 23720102 single base substitution T C intron_variant PACA-AU 14 23723526 23723526 single base substitution C A intron_variant PACA-AU 14 23723526 23723526 single base substitution C A upstream_gene_variant PACA-AU 14 23723531 23723531 single base substitution A C intron_variant PACA-AU 14 23723531 23723531 single base substitution A C upstream_gene_variant PACA-AU 14 23731223 23731223 single base substitution T C intron_variant PACA-AU 14 23731223 23731223 single base substitution T C upstream_gene_variant PACA-AU 14 23731235 23731235 single base substitution C T intron_variant PACA-AU 14 23731235 23731235 single base substitution C T upstream_gene_variant PACA-AU 14 23732480 23732480 single base substitution G A intron_variant PACA-AU 14 23734109 23734109 single base substitution C T downstream_gene_variant PACA-AU 14 23734109 23734109 single base substitution C T intron_variant PACA-AU 14 23738405 23738405 single base substitution C T downstream_gene_variant PACA-AU 14 23738405 23738405 single base substitution C T intron_variant PACA-AU 14 23741463 23741463 deletion of <=200bp A - downstream_gene_variant PACA-AU 14 23741463 23741463 deletion of <=200bp A - intron_variant PACA-AU 14 23744476 23744476 deletion of <=200bp A - downstream_gene_variant PACA-CA 14 23650449 23650449 single base substitution C T upstream_gene_variant PACA-CA 14 23651663 23651663 single base substitution C T upstream_gene_variant PACA-CA 14 23652073 23652073 single base substitution A C upstream_gene_variant PACA-CA 14 23655212 23655212 single base substitution G A intron_variant PACA-CA 14 23656459 23656459 single base substitution A T intron_variant PACA-CA 14 23658397 23658397 single base substitution G A downstream_gene_variant PACA-CA 14 23658397 23658397 single base substitution G A intron_variant PACA-CA 14 23663002 23663002 single base substitution G A intron_variant PACA-CA 14 23665294 23665294 single base substitution A G intron_variant PACA-CA 14 23670325 23670325 single base substitution C A intron_variant PACA-CA 14 23671615 23671615 single base substitution T G intron_variant PACA-CA 14 23675014 23675014 single base substitution A G intron_variant PACA-CA 14 23679060 23679060 single base substitution C G intron_variant PACA-CA 14 23681785 23681785 insertion of <=200bp - T intron_variant PACA-CA 14 23682610 23682610 single base substitution G A intron_variant PACA-CA 14 23682884 23682884 single base substitution A T intron_variant PACA-CA 14 23684402 23684402 single base substitution T A intron_variant PACA-CA 14 23686733 23686733 single base substitution T C intron_variant PACA-CA 14 23690031 23690031 insertion of <=200bp - A intron_variant PACA-CA 14 23690907 23690907 single base substitution T C intron_variant PACA-CA 14 23692359 23692359 single base substitution C T intron_variant PACA-CA 14 23692455 23692455 insertion of <=200bp - A intron_variant PACA-CA 14 23692853 23692853 single base substitution C T intron_variant PACA-CA 14 23694292 23694292 single base substitution A C intron_variant PACA-CA 14 23694711 23694711 single base substitution G A intron_variant PACA-CA 14 23698884 23698884 single base substitution C G intron_variant PACA-CA 14 23699990 23699990 single base substitution A T intron_variant PACA-CA 14 23702085 23702085 single base substitution C T intron_variant PACA-CA 14 23707086 23707086 single base substitution G T intron_variant PACA-CA 14 23707086 23707086 single base substitution G T upstream_gene_variant PACA-CA 14 23707983 23707983 insertion of <=200bp - TCATC intron_variant PACA-CA 14 23707983 23707983 insertion of <=200bp - TCATC upstream_gene_variant PACA-CA 14 23708004 23708004 single base substitution C A intron_variant PACA-CA 14 23708004 23708004 single base substitution C A upstream_gene_variant PACA-CA 14 23710920 23710920 insertion of <=200bp - T intron_variant PACA-CA 14 23712662 23712662 single base substitution T C intron_variant PACA-CA 14 23715117 23715117 single base substitution C T intron_variant PACA-CA 14 23716048 23716048 single base substitution T G intron_variant PACA-CA 14 23723149 23723149 single base substitution G A intron_variant PACA-CA 14 23723149 23723149 single base substitution G A upstream_gene_variant PACA-CA 14 23723495 23723495 insertion of <=200bp - A intron_variant PACA-CA 14 23723495 23723495 insertion of <=200bp - A upstream_gene_variant PACA-CA 14 23723496 23723496 deletion of <=200bp A - intron_variant PACA-CA 14 23723496 23723496 deletion of <=200bp A - upstream_gene_variant PACA-CA 14 23727921 23727921 single base substitution T C intron_variant PACA-CA 14 23727921 23727921 single base substitution T C upstream_gene_variant PACA-CA 14 23731992 23731992 single base substitution C T intron_variant PACA-CA 14 23731992 23731992 single base substitution C T upstream_gene_variant PACA-CA 14 23732106 23732106 single base substitution A T intron_variant PACA-CA 14 23732106 23732106 single base substitution A T upstream_gene_variant PACA-CA 14 23732532 23732532 single base substitution T A intron_variant PACA-CA 14 23732963 23732963 single base substitution A C intron_variant PACA-CA 14 23733283 23733283 single base substitution T A intron_variant PACA-CA 14 23734978 23734978 single base substitution T C downstream_gene_variant PACA-CA 14 23734978 23734978 single base substitution T C intron_variant PACA-CA 14 23737203 23737203 single base substitution T C downstream_gene_variant PACA-CA 14 23737203 23737203 single base substitution T C intron_variant PACA-CA 14 23739849 23739849 single base substitution T C 3_prime_UTR_variant PACA-CA 14 23739849 23739849 single base substitution T C downstream_gene_variant PACA-CA 14 23739849 23739849 single base substitution T C exon_variant PACA-CA 14 23739849 23739849 single base substitution T C intron_variant PACA-CA 14 23739849 23739849 single base substitution T C synonymous_variant S271S 813T>C PACA-CA 14 23741663 23741663 single base substitution G T downstream_gene_variant PACA-CA 14 23741663 23741663 single base substitution G T intron_variant PACA-CA 14 23745054 23745054 single base substitution C T downstream_gene_variant PACA-CA 14 23747352 23747352 single base substitution T A downstream_gene_variant PAEN-AU 14 23701832 23701832 single base substitution T C intron_variant PAEN-AU 14 23735356 23735356 single base substitution C T downstream_gene_variant PAEN-AU 14 23735356 23735356 single base substitution C T intron_variant PAEN-IT 14 23669604 23669604 single base substitution G C intron_variant PAEN-IT 14 23686666 23686666 single base substitution C T intron_variant PBCA-DE 14 23650500 23650500 insertion of <=200bp - A upstream_gene_variant PBCA-DE 14 23664797 23664797 single base substitution C T intron_variant PBCA-DE 14 23672631 23672631 single base substitution C T intron_variant PBCA-DE 14 23672855 23672855 insertion of <=200bp - T intron_variant PBCA-DE 14 23674893 23674893 single base substitution A G intron_variant PBCA-DE 14 23677285 23677285 single base substitution C T intron_variant PBCA-DE 14 23689495 23689495 single base substitution C G intron_variant PBCA-DE 14 23690910 23690910 single base substitution C T intron_variant PBCA-DE 14 23695772 23695772 single base substitution G A intron_variant PBCA-DE 14 23695796 23695796 single base substitution C T intron_variant PBCA-DE 14 23699858 23699858 single base substitution A G intron_variant PBCA-DE 14 23705202 23705202 single base substitution G T intron_variant PBCA-DE 14 23705202 23705202 single base substitution G T upstream_gene_variant PBCA-DE 14 23705656 23705656 insertion of <=200bp - GGAGGTTGCAGTGAGCCGAGAT intron_variant PBCA-DE 14 23705656 23705656 insertion of <=200bp - GGAGGTTGCAGTGAGCCGAGAT upstream_gene_variant PBCA-DE 14 23715212 23715212 single base substitution C A intron_variant PBCA-DE 14 23719206 23719206 single base substitution C T intron_variant PBCA-DE 14 23731581 23731581 single base substitution G A intron_variant PBCA-DE 14 23731581 23731581 single base substitution G A upstream_gene_variant PBCA-DE 14 23736657 23736657 single base substitution T G downstream_gene_variant PBCA-DE 14 23736657 23736657 single base substitution T G intron_variant PBCA-DE 14 23737847 23737847 single base substitution C A downstream_gene_variant PBCA-DE 14 23737847 23737847 single base substitution C A intron_variant PBCA-DE 14 23746792 23746792 insertion of <=200bp - A downstream_gene_variant PRAD-CA 14 23696035 23696035 single base substitution T A intron_variant PRAD-CA 14 23701684 23701684 single base substitution C G intron_variant PRAD-CA 14 23721010 23721010 single base substitution T C intron_variant PRAD-CA 14 23734710 23734710 single base substitution C A downstream_gene_variant PRAD-CA 14 23734710 23734710 single base substitution C A intron_variant PRAD-UK 14 23663059 23663059 insertion of <=200bp - T intron_variant PRAD-UK 14 23677118 23677118 single base substitution G T intron_variant PRAD-UK 14 23684776 23684776 single base substitution G A intron_variant PRAD-UK 14 23688679 23688679 single base substitution C T intron_variant PRAD-UK 14 23691858 23691858 single base substitution C G intron_variant PRAD-UK 14 23692860 23692860 single base substitution G A intron_variant PRAD-UK 14 23700997 23700997 single base substitution C T intron_variant PRAD-UK 14 23701493 23701493 single base substitution G A intron_variant PRAD-UK 14 23710243 23710243 single base substitution C A intron_variant PRAD-UK 14 23711217 23711217 single base substitution G A intron_variant PRAD-UK 14 23738879 23738879 single base substitution C A downstream_gene_variant PRAD-UK 14 23738879 23738879 single base substitution C A intron_variant PRAD-US 14 23652104 23652104 single base substitution T C upstream_gene_variant PRAD-US 14 23745310 23745310 deletion of <=200bp A - downstream_gene_variant READ-US 14 23744823 23744823 single base substitution A T downstream_gene_variant READ-US 14 23745700 23745700 single base substitution G T downstream_gene_variant RECA-EU 14 23654370 23654370 single base substitution T C upstream_gene_variant RECA-EU 14 23655144 23655144 single base substitution A T intron_variant RECA-EU 14 23659061 23659061 single base substitution C T downstream_gene_variant RECA-EU 14 23659061 23659061 single base substitution C T intron_variant RECA-EU 14 23667386 23667386 single base substitution T C intron_variant RECA-EU 14 23671651 23671651 single base substitution G C intron_variant RECA-EU 14 23680522 23680522 single base substitution T C intron_variant RECA-EU 14 23692976 23692976 single base substitution G A intron_variant RECA-EU 14 23695145 23695145 single base substitution A C intron_variant RECA-EU 14 23696940 23696940 single base substitution C T intron_variant RECA-EU 14 23712925 23712925 single base substitution A G intron_variant RECA-EU 14 23719653 23719653 single base substitution C T intron_variant RECA-EU 14 23723501 23723501 single base substitution C A intron_variant RECA-EU 14 23723501 23723501 single base substitution C A upstream_gene_variant RECA-EU 14 23724316 23724316 single base substitution A T intron_variant RECA-EU 14 23724316 23724316 single base substitution A T upstream_gene_variant RECA-EU 14 23735622 23735622 single base substitution T G downstream_gene_variant RECA-EU 14 23735622 23735622 single base substitution T G intron_variant RECA-EU 14 23744654 23744654 single base substitution C T downstream_gene_variant SKCA-BR 14 23650655 23650655 single base substitution T G upstream_gene_variant SKCA-BR 14 23652916 23652916 single base substitution C T upstream_gene_variant SKCA-BR 14 23655317 23655317 single base substitution C A intron_variant SKCA-BR 14 23656178 23656178 single base substitution T A intron_variant SKCA-BR 14 23658217 23658217 single base substitution G A downstream_gene_variant SKCA-BR 14 23658217 23658217 single base substitution G A intron_variant SKCA-BR 14 23661778 23661778 single base substitution G A downstream_gene_variant SKCA-BR 14 23661778 23661778 single base substitution G A intron_variant SKCA-BR 14 23664571 23664571 single base substitution G A intron_variant SKCA-BR 14 23667080 23667080 single base substitution T G intron_variant SKCA-BR 14 23667189 23667189 single base substitution A G intron_variant SKCA-BR 14 23667766 23667766 single base substitution T C intron_variant SKCA-BR 14 23668900 23668900 single base substitution G A intron_variant SKCA-BR 14 23670131 23670131 single base substitution T C intron_variant SKCA-BR 14 23671671 23671671 single base substitution G A intron_variant SKCA-BR 14 23674014 23674014 single base substitution G A intron_variant SKCA-BR 14 23675007 23675007 single base substitution T G intron_variant SKCA-BR 14 23680437 23680438 deletion of <=200bp AG - intron_variant SKCA-BR 14 23681028 23681028 single base substitution T C intron_variant SKCA-BR 14 23681754 23681754 single base substitution T C intron_variant SKCA-BR 14 23682166 23682166 single base substitution C T intron_variant SKCA-BR 14 23684630 23684630 single base substitution C T intron_variant SKCA-BR 14 23686130 23686130 single base substitution T G intron_variant SKCA-BR 14 23689109 23689109 single base substitution G A intron_variant SKCA-BR 14 23689394 23689400 deletion of <=200bp GAAAAAC - intron_variant SKCA-BR 14 23690140 23690140 single base substitution G A intron_variant SKCA-BR 14 23690442 23690442 insertion of <=200bp - GA intron_variant SKCA-BR 14 23691674 23691674 single base substitution A G intron_variant SKCA-BR 14 23692263 23692263 insertion of <=200bp - CA intron_variant SKCA-BR 14 23692645 23692645 single base substitution A C intron_variant SKCA-BR 14 23694116 23694116 single base substitution G A intron_variant SKCA-BR 14 23694920 23694920 single base substitution A T intron_variant SKCA-BR 14 23695823 23695823 single base substitution G A intron_variant SKCA-BR 14 23696397 23696397 single base substitution C T intron_variant SKCA-BR 14 23696959 23696959 single base substitution T C intron_variant SKCA-BR 14 23697321 23697321 single base substitution C T intron_variant SKCA-BR 14 23699261 23699261 single base substitution G A intron_variant SKCA-BR 14 23701469 23701469 single base substitution A G intron_variant SKCA-BR 14 23701501 23701501 single base substitution G A intron_variant SKCA-BR 14 23701503 23701503 single base substitution A G intron_variant SKCA-BR 14 23702097 23702097 single base substitution A G intron_variant SKCA-BR 14 23702601 23702601 single base substitution A C intron_variant SKCA-BR 14 23703781 23703781 single base substitution C T intron_variant SKCA-BR 14 23707780 23707780 single base substitution T A intron_variant SKCA-BR 14 23707780 23707780 single base substitution T A upstream_gene_variant SKCA-BR 14 23707974 23707974 single base substitution A C intron_variant SKCA-BR 14 23707974 23707974 single base substitution A C upstream_gene_variant SKCA-BR 14 23707977 23707977 single base substitution A C intron_variant SKCA-BR 14 23707977 23707977 single base substitution A C upstream_gene_variant SKCA-BR 14 23710336 23710336 single base substitution C T intron_variant SKCA-BR 14 23711311 23711311 single base substitution A G intron_variant SKCA-BR 14 23711424 23711424 insertion of <=200bp - AT intron_variant SKCA-BR 14 23712522 23712522 single base substitution G T splice_region_variant SKCA-BR 14 23712529 23712529 single base substitution T C intron_variant SKCA-BR 14 23712928 23712930 deletion of <=200bp AGC - intron_variant SKCA-BR 14 23713101 23713101 single base substitution C A intron_variant SKCA-BR 14 23715001 23715003 deletion of <=200bp TTA - intron_variant SKCA-BR 14 23716907 23716907 single base substitution C T intron_variant SKCA-BR 14 23717361 23717361 single base substitution A T intron_variant SKCA-BR 14 23720740 23720740 single base substitution A G intron_variant SKCA-BR 14 23720933 23720933 single base substitution G A intron_variant SKCA-BR 14 23721023 23721023 insertion of <=200bp - CAAAA intron_variant SKCA-BR 14 23721056 23721056 single base substitution C G intron_variant SKCA-BR 14 23724169 23724169 single base substitution G A intron_variant SKCA-BR 14 23724169 23724169 single base substitution G A upstream_gene_variant SKCA-BR 14 23724967 23724967 single base substitution G A intron_variant SKCA-BR 14 23724967 23724967 single base substitution G A upstream_gene_variant SKCA-BR 14 23725136 23725136 single base substitution G A intron_variant SKCA-BR 14 23725136 23725136 single base substitution G A upstream_gene_variant SKCA-BR 14 23725431 23725431 single base substitution C T intron_variant SKCA-BR 14 23725431 23725431 single base substitution C T upstream_gene_variant SKCA-BR 14 23728678 23728678 single base substitution G A intron_variant SKCA-BR 14 23728678 23728678 single base substitution G A upstream_gene_variant SKCA-BR 14 23730896 23730896 single base substitution T G intron_variant SKCA-BR 14 23730896 23730896 single base substitution T G upstream_gene_variant SKCA-BR 14 23732467 23732467 single base substitution C T intron_variant SKCA-BR 14 23735621 23735621 insertion of <=200bp - TG downstream_gene_variant SKCA-BR 14 23735621 23735621 insertion of <=200bp - TG intron_variant SKCA-BR 14 23739656 23739656 single base substitution A G intron_variant SKCA-BR 14 23745525 23745525 single base substitution T G downstream_gene_variant SKCA-BR 14 23745676 23745676 single base substitution A G downstream_gene_variant SKCA-BR 14 23746952 23746953 deletion of <=200bp CA - downstream_gene_variant SKCM-US 14 23745008 23745008 single base substitution G C downstream_gene_variant SKCM-US 14 23745522 23745522 single base substitution G A downstream_gene_variant SKCM-US 14 23745814 23745814 single base substitution G A downstream_gene_variant SKCM-US 14 23746205 23746205 single base substitution G A downstream_gene_variant SKCM-US 14 23746302 23746302 single base substitution A T downstream_gene_variant STAD-US 14 23652029 23652029 deletion of <=200bp C - upstream_gene_variant STAD-US 14 23652065 23652065 single base substitution T A upstream_gene_variant STAD-US 14 23745054 23745054 single base substitution C T downstream_gene_variant STAD-US 14 23745099 23745099 single base substitution G A downstream_gene_variant STAD-US 14 23745515 23745515 single base substitution G A downstream_gene_variant STAD-US 14 23745818 23745818 single base substitution T C downstream_gene_variant STAD-US 14 23745847 23745847 single base substitution C G downstream_gene_variant STAD-US 14 23745847 23745848 deletion of <=200bp CT - downstream_gene_variant STAD-US 14 23746064 23746064 single base substitution G A downstream_gene_variant STAD-US 14 23746167 23746167 single base substitution T C downstream_gene_variant THCA-SA 14 23744083 23744083 single base substitution A C downstream_gene_variant THCA-SA 14 23744801 23744803 deletion of <=200bp CAT - downstream_gene_variant THCA-SA 14 23744823 23744823 single base substitution A T downstream_gene_variant THCA-SA 14 23744826 23744826 single base substitution T A downstream_gene_variant THCA-SA 14 23745533 23745533 single base substitution C T downstream_gene_variant UCEC-US 14 23744801 23744803 deletion of <=200bp CAT - downstream_gene_variant UCEC-US 14 23744827 23744829 deletion of <=200bp TCC - downstream_gene_variant UCEC-US 14 23745113 23745113 single base substitution T C downstream_gene_variant UCEC-US 14 23745163 23745163 single base substitution G T downstream_gene_variant UCEC-US 14 23745179 23745179 single base substitution G A downstream_gene_variant UCEC-US 14 23745574 23745574 single base substitution G A downstream_gene_variant UCEC-US 14 23745810 23745810 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand RK280_C01 COSM4944382 c.575G>A p.S192N Substitution - Missense 14:23264224-23264224 + J76_T COSM3955926 c.773-3C>T p.? Unknown 14:23270597-23270597 + PD23565a COSM5790757 c.51C>T p.F17F Substitution - coding silent 14:23240396-23240396 + TCGA-JX-A3Q8-01 COSM4833563 c.617C>T p.P206L Substitution - Missense 14:23264654-23264654 + J30_T COSM3955925 c.115T>G p.C39G Substitution - Missense 14:23243270-23243270 + BD165T COSM4244597 c.435-9C>T p.? Unknown 14:23262656-23262656 + PT48 COSM5933270 c.428G>A p.G143E Substitution - Missense 14:23260681-23260681 +

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - T IntronicInsertion . c.1-2075dupT 14 23707475 CM