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 22 20749694 20749694 single base substitution G A upstream_gene_variant BOCA-FR 22 20748245 20748245 single base substitution G T upstream_gene_variant BRCA-EU 22 20705483 20705483 single base substitution C A intron_variant BRCA-EU 22 20707187 20707187 single base substitution A G intron_variant BRCA-EU 22 20707217 20707217 single base substitution A C intron_variant BRCA-EU 22 20707827 20707827 single base substitution G A intron_variant BRCA-EU 22 20709669 20709669 single base substitution C T intron_variant BRCA-EU 22 20709956 20709956 single base substitution C T intron_variant BRCA-EU 22 20710013 20710013 single base substitution C T intron_variant BRCA-EU 22 20710770 20710770 single base substitution G A intron_variant BRCA-EU 22 20711339 20711339 single base substitution C T intron_variant BRCA-EU 22 20711703 20711703 single base substitution G A intron_variant BRCA-EU 22 20711928 20711928 single base substitution G C intron_variant BRCA-EU 22 20712330 20712330 single base substitution G A intron_variant BRCA-EU 22 20712601 20712601 single base substitution C T intron_variant BRCA-EU 22 20712603 20712603 single base substitution C G intron_variant BRCA-EU 22 20712605 20712605 single base substitution G C intron_variant BRCA-EU 22 20712858 20712858 single base substitution G A intron_variant BRCA-EU 22 20713020 20713020 single base substitution T C downstream_gene_variant BRCA-EU 22 20713020 20713020 single base substitution T C intron_variant BRCA-EU 22 20713061 20713061 single base substitution G A downstream_gene_variant BRCA-EU 22 20713061 20713061 single base substitution G A intron_variant BRCA-EU 22 20714083 20714083 single base substitution C G downstream_gene_variant BRCA-EU 22 20714083 20714083 single base substitution C G intron_variant BRCA-EU 22 20714094 20714094 single base substitution C T downstream_gene_variant BRCA-EU 22 20714094 20714094 single base substitution C T intron_variant BRCA-EU 22 20714318 20714318 single base substitution A T downstream_gene_variant BRCA-EU 22 20714318 20714318 single base substitution A T intron_variant BRCA-EU 22 20714614 20714614 single base substitution C A downstream_gene_variant BRCA-EU 22 20714614 20714614 single base substitution C A intron_variant BRCA-EU 22 20714740 20714740 single base substitution C T downstream_gene_variant BRCA-EU 22 20714740 20714740 single base substitution C T intron_variant BRCA-EU 22 20714795 20714795 single base substitution G A downstream_gene_variant BRCA-EU 22 20714795 20714795 single base substitution G A intron_variant BRCA-EU 22 20714875 20714875 single base substitution C T downstream_gene_variant BRCA-EU 22 20714875 20714875 single base substitution C T intron_variant BRCA-EU 22 20715400 20715400 single base substitution C T downstream_gene_variant BRCA-EU 22 20715400 20715400 single base substitution C T intron_variant BRCA-EU 22 20716032 20716032 single base substitution G A downstream_gene_variant BRCA-EU 22 20716032 20716032 single base substitution G A intron_variant BRCA-EU 22 20716089 20716089 single base substitution C T downstream_gene_variant BRCA-EU 22 20716089 20716089 single base substitution C T intron_variant BRCA-EU 22 20716459 20716459 single base substitution A T downstream_gene_variant BRCA-EU 22 20716459 20716459 single base substitution A T intron_variant BRCA-EU 22 20716491 20716491 single base substitution G A downstream_gene_variant BRCA-EU 22 20716491 20716491 single base substitution G A intron_variant BRCA-EU 22 20717045 20717045 single base substitution T C downstream_gene_variant BRCA-EU 22 20717045 20717045 single base substitution T C intron_variant BRCA-EU 22 20718200 20718200 single base substitution C G intron_variant BRCA-EU 22 20719599 20719599 single base substitution C T intron_variant BRCA-EU 22 20719599 20719599 single base substitution C T upstream_gene_variant BRCA-EU 22 20720018 20720018 deletion of <=200bp A - intron_variant BRCA-EU 22 20720018 20720018 deletion of <=200bp A - upstream_gene_variant BRCA-EU 22 20721412 20721412 single base substitution A G intron_variant BRCA-EU 22 20721412 20721412 single base substitution A G upstream_gene_variant BRCA-EU 22 20723369 20723369 single base substitution C T intron_variant BRCA-EU 22 20723369 20723369 single base substitution C T upstream_gene_variant BRCA-EU 22 20723370 20723370 single base substitution G A intron_variant BRCA-EU 22 20723370 20723370 single base substitution G A upstream_gene_variant BRCA-EU 22 20724694 20724694 single base substitution C T intron_variant BRCA-EU 22 20725357 20725357 single base substitution A G intron_variant BRCA-EU 22 20727134 20727134 single base substitution C G intron_variant BRCA-EU 22 20727134 20727134 single base substitution C G upstream_gene_variant BRCA-EU 22 20730497 20730497 single base substitution G T intron_variant BRCA-EU 22 20730497 20730497 single base substitution G T upstream_gene_variant BRCA-EU 22 20731063 20731063 single base substitution G T intron_variant BRCA-EU 22 20731063 20731063 single base substitution G T upstream_gene_variant BRCA-EU 22 20731282 20731282 single base substitution G A intron_variant BRCA-EU 22 20731282 20731282 single base substitution G A upstream_gene_variant BRCA-EU 22 20731313 20731313 single base substitution C T intron_variant BRCA-EU 22 20731313 20731313 single base substitution C T upstream_gene_variant BRCA-EU 22 20735646 20735646 single base substitution T A intron_variant BRCA-EU 22 20735646 20735646 single base substitution T A upstream_gene_variant BRCA-EU 22 20737384 20737384 single base substitution C T intron_variant BRCA-EU 22 20738011 20738011 single base substitution G A intron_variant BRCA-EU 22 20738189 20738189 single base substitution A G intron_variant BRCA-EU 22 20739601 20739601 single base substitution C T intron_variant BRCA-EU 22 20739901 20739902 deletion of <=200bp AC - intron_variant BRCA-EU 22 20740125 20740125 single base substitution A T intron_variant BRCA-EU 22 20740586 20740588 deletion of <=200bp AAT - intron_variant BRCA-EU 22 20741403 20741403 single base substitution A T intron_variant BRCA-EU 22 20741824 20741824 single base substitution T A intron_variant BRCA-EU 22 20742970 20742970 single base substitution A G intron_variant BRCA-EU 22 20744096 20744096 single base substitution G T intron_variant BRCA-EU 22 20744467 20744467 single base substitution A G intron_variant BRCA-EU 22 20746260 20746260 single base substitution C G upstream_gene_variant BRCA-EU 22 20746268 20746268 single base substitution T A upstream_gene_variant BRCA-EU 22 20746865 20746865 single base substitution G A upstream_gene_variant BRCA-EU 22 20747013 20747013 single base substitution C T upstream_gene_variant BRCA-EU 22 20748325 20748325 single base substitution G T upstream_gene_variant BRCA-EU 22 20749634 20749634 single base substitution C A upstream_gene_variant BRCA-EU 22 20750027 20750027 single base substitution G A upstream_gene_variant BRCA-FR 22 20719599 20719599 single base substitution C T intron_variant BRCA-FR 22 20719599 20719599 single base substitution C T upstream_gene_variant BRCA-FR 22 20721412 20721412 single base substitution A G intron_variant BRCA-FR 22 20721412 20721412 single base substitution A G upstream_gene_variant BRCA-FR 22 20722085 20722085 single base substitution G A intron_variant BRCA-FR 22 20722085 20722085 single base substitution G A upstream_gene_variant BRCA-FR 22 20722503 20722503 single base substitution C T intron_variant BRCA-FR 22 20722503 20722503 single base substitution C T upstream_gene_variant BRCA-FR 22 20730734 20730734 single base substitution C T intron_variant BRCA-FR 22 20730734 20730734 single base substitution C T upstream_gene_variant BRCA-FR 22 20745833 20745833 single base substitution A G upstream_gene_variant BRCA-FR 22 20750027 20750027 single base substitution G A upstream_gene_variant BRCA-UK 22 20707273 20707273 single base substitution C T intron_variant BRCA-UK 22 20707284 20707284 single base substitution G T intron_variant BRCA-UK 22 20725541 20725541 single base substitution T C intron_variant BRCA-UK 22 20744096 20744096 single base substitution G T intron_variant BRCA-US 22 20720878 20720878 single base substitution C A exon_variant BRCA-US 22 20720878 20720878 single base substitution C A missense_variant E237D 711G>T BRCA-US 22 20720878 20720878 single base substitution C A missense_variant E290D 870G>T BRCA-US 22 20720878 20720878 single base substitution C A upstream_gene_variant BRCA-US 22 20723832 20723832 single base substitution T C exon_variant BRCA-US 22 20723832 20723832 single base substitution T C missense_variant M119V 355A>G BRCA-US 22 20723832 20723832 single base substitution T C missense_variant M172V 514A>G BTCA-JP 22 20718766 20718766 single base substitution T C intron_variant BTCA-JP 22 20718766 20718766 single base substitution T C upstream_gene_variant BTCA-JP 22 20731317 20731317 single base substitution G T intron_variant BTCA-JP 22 20731317 20731317 single base substitution G T upstream_gene_variant CESC-US 22 20708820 20708820 single base substitution C T intron_variant CESC-US 22 20708827 20708827 single base substitution G A intron_variant CESC-US 22 20709953 20709953 single base substitution C T intron_variant CESC-US 22 20709962 20709962 single base substitution C T intron_variant CESC-US 22 20710188 20710188 single base substitution G T intron_variant CESC-US 22 20710253 20710253 single base substitution C T intron_variant CESC-US 22 20710592 20710592 single base substitution C T intron_variant CLLE-ES 22 20709420 20709420 single base substitution C G intron_variant CLLE-ES 22 20710711 20710711 single base substitution A G intron_variant CLLE-ES 22 20711546 20711572 deletion of <=200bp CCACGGCGTCGCTAAAGAGGTCGCCGC - intron_variant CLLE-ES 22 20711571 20711571 single base substitution G A intron_variant CLLE-ES 22 20713223 20713223 single base substitution G C downstream_gene_variant CLLE-ES 22 20713223 20713223 single base substitution G C intron_variant CLLE-ES 22 20734763 20734763 single base substitution A G intron_variant CLLE-ES 22 20734763 20734763 single base substitution A G upstream_gene_variant CLLE-ES 22 20739223 20739223 single base substitution C T intron_variant COCA-CN 22 20705428 20705428 single base substitution G A intron_variant COCA-CN 22 20705831 20705831 single base substitution C G intron_variant COCA-CN 22 20707419 20707419 single base substitution G T intron_variant COCA-CN 22 20707463 20707463 single base substitution A G intron_variant COCA-CN 22 20709358 20709358 single base substitution G A intron_variant COCA-CN 22 20709759 20709759 single base substitution C T intron_variant COCA-CN 22 20710446 20710446 single base substitution T G intron_variant COCA-CN 22 20710700 20710700 single base substitution T C intron_variant COCA-CN 22 20710844 20710844 single base substitution G A intron_variant COCA-CN 22 20711369 20711369 single base substitution G T intron_variant COCA-CN 22 20712402 20712402 single base substitution G A intron_variant COCA-CN 22 20713555 20713555 single base substitution C G downstream_gene_variant COCA-CN 22 20713555 20713555 single base substitution C G intron_variant COCA-CN 22 20713964 20713964 single base substitution A G downstream_gene_variant COCA-CN 22 20713964 20713964 single base substitution A G intron_variant COCA-CN 22 20715797 20715797 single base substitution C T downstream_gene_variant COCA-CN 22 20715797 20715797 single base substitution C T intron_variant COCA-CN 22 20715990 20715990 single base substitution C G downstream_gene_variant COCA-CN 22 20715990 20715990 single base substitution C G intron_variant COCA-CN 22 20717803 20717803 single base substitution A G downstream_gene_variant COCA-CN 22 20717803 20717803 single base substitution A G intron_variant COCA-CN 22 20718664 20718664 single base substitution C T intron_variant COCA-CN 22 20718664 20718664 single base substitution C T upstream_gene_variant COCA-CN 22 20718734 20718734 single base substitution G A intron_variant COCA-CN 22 20718734 20718734 single base substitution G A upstream_gene_variant COCA-CN 22 20724536 20724536 single base substitution C A intron_variant COCA-CN 22 20728916 20728916 single base substitution G A intron_variant COCA-CN 22 20728916 20728916 single base substitution G A upstream_gene_variant COCA-CN 22 20729885 20729885 single base substitution C T missense_variant V46I 136G>A COCA-CN 22 20729885 20729885 single base substitution C T missense_variant V99I 295G>A COCA-CN 22 20729885 20729885 single base substitution C T upstream_gene_variant COCA-CN 22 20739055 20739055 single base substitution G A intron_variant COCA-CN 22 20749554 20749554 single base substitution C T upstream_gene_variant EOPC-DE 22 20715394 20715394 single base substitution A C downstream_gene_variant EOPC-DE 22 20715394 20715394 single base substitution A C intron_variant ESAD-UK 22 20708310 20708310 single base substitution A G intron_variant ESAD-UK 22 20709183 20709183 single base substitution C T intron_variant ESAD-UK 22 20709705 20709705 single base substitution C T intron_variant ESAD-UK 22 20709727 20709727 single base substitution G C intron_variant ESAD-UK 22 20710268 20710268 single base substitution C A intron_variant ESAD-UK 22 20712438 20712438 single base substitution G A intron_variant ESAD-UK 22 20712552 20712552 single base substitution G A intron_variant ESAD-UK 22 20713107 20713107 single base substitution A T downstream_gene_variant ESAD-UK 22 20713107 20713107 single base substitution A T intron_variant ESAD-UK 22 20715889 20715889 single base substitution G A downstream_gene_variant ESAD-UK 22 20715889 20715889 single base substitution G A intron_variant ESAD-UK 22 20716352 20716352 single base substitution G T downstream_gene_variant ESAD-UK 22 20716352 20716352 single base substitution G T intron_variant ESAD-UK 22 20728188 20728188 single base substitution A C intron_variant ESAD-UK 22 20728188 20728188 single base substitution A C upstream_gene_variant ESAD-UK 22 20731361 20731361 single base substitution C A intron_variant ESAD-UK 22 20731361 20731361 single base substitution C A upstream_gene_variant ESAD-UK 22 20736066 20736066 single base substitution G A intron_variant ESAD-UK 22 20736066 20736066 single base substitution G A upstream_gene_variant ESAD-UK 22 20736412 20736412 single base substitution A G intron_variant ESAD-UK 22 20736412 20736412 single base substitution A G upstream_gene_variant ESAD-UK 22 20738066 20738066 single base substitution G T intron_variant ESAD-UK 22 20738414 20738414 single base substitution A T intron_variant ESAD-UK 22 20738799 20738799 single base substitution A C intron_variant ESAD-UK 22 20740014 20740014 single base substitution A T intron_variant ESAD-UK 22 20741356 20741356 single base substitution T C intron_variant ESAD-UK 22 20744468 20744468 single base substitution A G intron_variant ESAD-UK 22 20744777 20744777 single base substitution C G intron_variant ESAD-UK 22 20744786 20744786 single base substitution A G missense_variant L32P 95T>C ESAD-UK 22 20744954 20744954 single base substitution A G intron_variant ESAD-UK 22 20745485 20745485 single base substitution C T upstream_gene_variant ESAD-UK 22 20747043 20747043 single base substitution G A upstream_gene_variant ESAD-UK 22 20749362 20749362 single base substitution G A upstream_gene_variant ESAD-UK 22 20749389 20749389 single base substitution C T upstream_gene_variant GBM-US 22 20721910 20721910 single base substitution G T exon_variant GBM-US 22 20721910 20721910 single base substitution G T missense_variant F164L 492C>A GBM-US 22 20721910 20721910 single base substitution G T missense_variant F217L 651C>A GBM-US 22 20721910 20721910 single base substitution G T upstream_gene_variant KIRC-US 22 20718476 20718476 insertion of <=200bp - A frameshift_variant L288L? KIRC-US 22 20718476 20718476 insertion of <=200bp - A frameshift_variant L341L? KIRC-US 22 20718476 20718476 insertion of <=200bp - A splice_region_variant LAML-KR 22 20703566 20703566 single base substitution G A downstream_gene_variant LAML-KR 22 20703596 20703596 single base substitution C T downstream_gene_variant LAML-KR 22 20703627 20703627 single base substitution G A downstream_gene_variant LAML-KR 22 20703675 20703675 single base substitution A G downstream_gene_variant LAML-KR 22 20703750 20703750 single base substitution C T downstream_gene_variant LAML-KR 22 20703772 20703772 single base substitution G A downstream_gene_variant LAML-KR 22 20703943 20703943 single base substitution T A downstream_gene_variant LAML-KR 22 20706033 20706033 single base substitution G A intron_variant LAML-KR 22 20706664 20706664 single base substitution G A intron_variant LAML-KR 22 20708685 20708685 single base substitution T C intron_variant LAML-KR 22 20708961 20708961 single base substitution C T intron_variant LAML-KR 22 20709228 20709228 single base substitution G A intron_variant LAML-KR 22 20709346 20709346 single base substitution C G intron_variant LAML-KR 22 20709538 20709538 single base substitution G A intron_variant LAML-KR 22 20710132 20710132 single base substitution T A intron_variant LAML-KR 22 20710402 20710402 single base substitution A T intron_variant LAML-KR 22 20710458 20710458 single base substitution A G intron_variant LAML-KR 22 20710739 20710739 single base substitution C A intron_variant LAML-KR 22 20710743 20710743 single base substitution T G intron_variant LAML-KR 22 20710836 20710836 single base substitution G C intron_variant LAML-KR 22 20710839 20710839 single base substitution G A intron_variant LAML-KR 22 20710844 20710844 single base substitution G A intron_variant LAML-KR 22 20710932 20710932 single base substitution A G intron_variant LAML-KR 22 20711105 20711105 single base substitution T C intron_variant LAML-KR 22 20711257 20711257 single base substitution T C intron_variant LAML-KR 22 20711267 20711267 single base substitution C T intron_variant LAML-KR 22 20711277 20711277 single base substitution G A intron_variant LAML-KR 22 20711297 20711297 single base substitution T C intron_variant LAML-KR 22 20711544 20711544 single base substitution G A intron_variant LAML-KR 22 20711589 20711589 single base substitution A G intron_variant LAML-KR 22 20711728 20711728 single base substitution T A intron_variant LAML-KR 22 20711989 20711989 single base substitution C T intron_variant LAML-KR 22 20712194 20712194 single base substitution C T intron_variant LAML-KR 22 20712227 20712227 single base substitution C T intron_variant LAML-KR 22 20712952 20712952 single base substitution C T downstream_gene_variant LAML-KR 22 20712952 20712952 single base substitution C T intron_variant LAML-KR 22 20713064 20713064 single base substitution G A downstream_gene_variant LAML-KR 22 20713064 20713064 single base substitution G A intron_variant LAML-KR 22 20713107 20713107 single base substitution A C downstream_gene_variant LAML-KR 22 20713107 20713107 single base substitution A C intron_variant LAML-KR 22 20713118 20713118 single base substitution A G downstream_gene_variant LAML-KR 22 20713118 20713118 single base substitution A G intron_variant LAML-KR 22 20713474 20713474 single base substitution G C downstream_gene_variant LAML-KR 22 20713474 20713474 single base substitution G C intron_variant LAML-KR 22 20713964 20713964 single base substitution A G downstream_gene_variant LAML-KR 22 20713964 20713964 single base substitution A G intron_variant LAML-KR 22 20714003 20714003 single base substitution G C downstream_gene_variant LAML-KR 22 20714003 20714003 single base substitution G C intron_variant LAML-KR 22 20714164 20714164 single base substitution C A downstream_gene_variant LAML-KR 22 20714164 20714164 single base substitution C A intron_variant LAML-KR 22 20714183 20714183 single base substitution G A downstream_gene_variant LAML-KR 22 20714183 20714183 single base substitution G A intron_variant LAML-KR 22 20714225 20714225 single base substitution C G downstream_gene_variant LAML-KR 22 20714225 20714225 single base substitution C G intron_variant LAML-KR 22 20714477 20714477 single base substitution A G downstream_gene_variant LAML-KR 22 20714477 20714477 single base substitution A G intron_variant LAML-KR 22 20714503 20714503 single base substitution T C downstream_gene_variant LAML-KR 22 20714503 20714503 single base substitution T C intron_variant LAML-KR 22 20714818 20714818 single base substitution C T downstream_gene_variant LAML-KR 22 20714818 20714818 single base substitution C T intron_variant LAML-KR 22 20714848 20714848 single base substitution T C downstream_gene_variant LAML-KR 22 20714848 20714848 single base substitution T C intron_variant LAML-KR 22 20714877 20714877 single base substitution C T downstream_gene_variant LAML-KR 22 20714877 20714877 single base substitution C T intron_variant LAML-KR 22 20714883 20714883 single base substitution A G downstream_gene_variant LAML-KR 22 20714883 20714883 single base substitution A G intron_variant LAML-KR 22 20714894 20714894 single base substitution G C downstream_gene_variant LAML-KR 22 20714894 20714894 single base substitution G C intron_variant LAML-KR 22 20715061 20715061 single base substitution C T downstream_gene_variant LAML-KR 22 20715061 20715061 single base substitution C T intron_variant LAML-KR 22 20715115 20715115 single base substitution C T downstream_gene_variant LAML-KR 22 20715115 20715115 single base substitution C T intron_variant LAML-KR 22 20715157 20715157 single base substitution T C downstream_gene_variant LAML-KR 22 20715157 20715157 single base substitution T C intron_variant LAML-KR 22 20715169 20715169 single base substitution C T downstream_gene_variant LAML-KR 22 20715169 20715169 single base substitution C T intron_variant LAML-KR 22 20715206 20715206 single base substitution G A downstream_gene_variant LAML-KR 22 20715206 20715206 single base substitution G A intron_variant LAML-KR 22 20715308 20715308 single base substitution G A downstream_gene_variant LAML-KR 22 20715308 20715308 single base substitution G A intron_variant LAML-KR 22 20715444 20715444 single base substitution C T downstream_gene_variant LAML-KR 22 20715444 20715444 single base substitution C T intron_variant LAML-KR 22 20715683 20715683 single base substitution T A downstream_gene_variant LAML-KR 22 20715683 20715683 single base substitution T A intron_variant LAML-KR 22 20715720 20715720 single base substitution C G downstream_gene_variant LAML-KR 22 20715720 20715720 single base substitution C G intron_variant LAML-KR 22 20715737 20715737 single base substitution T A downstream_gene_variant LAML-KR 22 20715737 20715737 single base substitution T A intron_variant LAML-KR 22 20715742 20715742 single base substitution G A downstream_gene_variant LAML-KR 22 20715742 20715742 single base substitution G A intron_variant LAML-KR 22 20715747 20715747 single base substitution C G downstream_gene_variant LAML-KR 22 20715747 20715747 single base substitution C G intron_variant LAML-KR 22 20715953 20715953 single base substitution A T downstream_gene_variant LAML-KR 22 20715953 20715953 single base substitution A T intron_variant LAML-KR 22 20716034 20716034 single base substitution T A downstream_gene_variant LAML-KR 22 20716034 20716034 single base substitution T A intron_variant LAML-KR 22 20718525 20718525 single base substitution T C exon_variant LAML-KR 22 20718525 20718525 single base substitution T C missense_variant N272S 815A>G LAML-KR 22 20718525 20718525 single base substitution T C missense_variant N325S 974A>G LAML-KR 22 20722555 20722555 single base substitution A C intron_variant LAML-KR 22 20722555 20722555 single base substitution A C upstream_gene_variant LAML-KR 22 20746475 20746475 single base substitution C T upstream_gene_variant LICA-FR 22 20704495 20704495 single base substitution G T downstream_gene_variant LICA-FR 22 20704606 20704606 single base substitution G T downstream_gene_variant LICA-FR 22 20704945 20704945 single base substitution T C 3_prime_UTR_variant LICA-FR 22 20704945 20704945 single base substitution T C exon_variant LICA-FR 22 20705223 20705223 single base substitution T G splice_acceptor_variant LICA-FR 22 20706120 20706120 single base substitution G A intron_variant LICA-FR 22 20707544 20707544 single base substitution T A intron_variant LICA-FR 22 20711297 20711297 single base substitution T C intron_variant LICA-FR 22 20711345 20711345 single base substitution C T intron_variant LICA-FR 22 20714386 20714386 single base substitution C T downstream_gene_variant LICA-FR 22 20714386 20714386 single base substitution C T intron_variant LICA-FR 22 20715308 20715308 single base substitution G A downstream_gene_variant LICA-FR 22 20715308 20715308 single base substitution G A intron_variant LICA-FR 22 20735953 20735953 single base substitution G T intron_variant LICA-FR 22 20735953 20735953 single base substitution G T upstream_gene_variant LIHC-US 22 20749677 20749677 single base substitution C G upstream_gene_variant LINC-JP 22 20708329 20708329 single base substitution T C intron_variant LINC-JP 22 20710429 20710429 single base substitution T A intron_variant LINC-JP 22 20711199 20711199 single base substitution G A intron_variant LINC-JP 22 20714689 20714689 single base substitution C A downstream_gene_variant LINC-JP 22 20714689 20714689 single base substitution C A intron_variant LINC-JP 22 20714728 20714728 single base substitution T G downstream_gene_variant LINC-JP 22 20714728 20714728 single base substitution T G intron_variant LINC-JP 22 20715448 20715448 single base substitution G T downstream_gene_variant LINC-JP 22 20715448 20715448 single base substitution G T intron_variant LINC-JP 22 20722069 20722069 single base substitution C T intron_variant LINC-JP 22 20722069 20722069 single base substitution C T upstream_gene_variant LINC-JP 22 20724405 20724405 single base substitution C T splice_region_variant LINC-JP 22 20729764 20729764 single base substitution T C intron_variant LINC-JP 22 20729764 20729764 single base substitution T C upstream_gene_variant LINC-JP 22 20729843 20729843 single base substitution T C missense_variant S113G 337A>G LINC-JP 22 20729843 20729843 single base substitution T C missense_variant S60G 178A>G LINC-JP 22 20729843 20729843 single base substitution T C upstream_gene_variant LINC-JP 22 20740705 20740705 single base substitution A C intron_variant LINC-JP 22 20743766 20743766 single base substitution T A intron_variant LINC-JP 22 20743885 20743885 single base substitution C T intron_variant LIRI-JP 22 20705739 20705739 single base substitution G T intron_variant LIRI-JP 22 20718726 20718726 single base substitution T C intron_variant LIRI-JP 22 20718726 20718726 single base substitution T C upstream_gene_variant LIRI-JP 22 20719291 20719291 single base substitution A G intron_variant LIRI-JP 22 20719291 20719291 single base substitution A G upstream_gene_variant LIRI-JP 22 20722442 20722442 single base substitution G A intron_variant LIRI-JP 22 20722442 20722442 single base substitution G A upstream_gene_variant LIRI-JP 22 20727069 20727069 single base substitution C A intron_variant LIRI-JP 22 20727069 20727069 single base substitution C A upstream_gene_variant LIRI-JP 22 20729409 20729409 single base substitution T C intron_variant LIRI-JP 22 20729409 20729409 single base substitution T C upstream_gene_variant LIRI-JP 22 20732056 20732056 single base substitution T C intron_variant LIRI-JP 22 20732056 20732056 single base substitution T C upstream_gene_variant LIRI-JP 22 20732069 20732069 single base substitution A G intron_variant LIRI-JP 22 20732069 20732069 single base substitution A G upstream_gene_variant LIRI-JP 22 20734471 20734471 single base substitution A G intron_variant LIRI-JP 22 20734471 20734471 single base substitution A G upstream_gene_variant LIRI-JP 22 20735596 20735596 single base substitution T C intron_variant LIRI-JP 22 20735596 20735596 single base substitution T C upstream_gene_variant LIRI-JP 22 20735642 20735642 single base substitution A T intron_variant LIRI-JP 22 20735642 20735642 single base substitution A T upstream_gene_variant LIRI-JP 22 20738163 20738163 single base substitution G A intron_variant LIRI-JP 22 20740589 20740589 single base substitution A G intron_variant LIRI-JP 22 20741103 20741103 single base substitution T C intron_variant LIRI-JP 22 20741552 20741552 single base substitution C A intron_variant LIRI-JP 22 20743051 20743051 single base substitution G A intron_variant LIRI-JP 22 20745202 20745202 single base substitution C T upstream_gene_variant LIRI-JP 22 20747304 20747304 single base substitution T G upstream_gene_variant LUSC-KR 22 20704438 20704438 single base substitution G C downstream_gene_variant LUSC-KR 22 20705221 20705221 single base substitution C A splice_region_variant LUSC-KR 22 20706033 20706033 single base substitution G A intron_variant LUSC-KR 22 20709111 20709111 single base substitution C G intron_variant LUSC-KR 22 20710578 20710578 single base substitution G A intron_variant LUSC-KR 22 20711121 20711121 single base substitution G A intron_variant LUSC-KR 22 20711214 20711214 single base substitution A G intron_variant LUSC-KR 22 20711885 20711885 single base substitution C A intron_variant LUSC-KR 22 20715077 20715077 single base substitution G A downstream_gene_variant LUSC-KR 22 20715077 20715077 single base substitution G A intron_variant LUSC-KR 22 20715333 20715333 single base substitution T C downstream_gene_variant LUSC-KR 22 20715333 20715333 single base substitution T C intron_variant LUSC-KR 22 20716034 20716034 single base substitution T A downstream_gene_variant LUSC-KR 22 20716034 20716034 single base substitution T A intron_variant LUSC-KR 22 20718116 20718116 single base substitution G A intron_variant LUSC-KR 22 20718292 20718292 single base substitution G A intron_variant LUSC-KR 22 20718786 20718786 single base substitution T C intron_variant LUSC-KR 22 20718786 20718786 single base substitution T C upstream_gene_variant LUSC-KR 22 20718790 20718790 single base substitution G T intron_variant LUSC-KR 22 20718790 20718790 single base substitution G T upstream_gene_variant LUSC-KR 22 20719068 20719068 single base substitution T C intron_variant LUSC-KR 22 20719068 20719068 single base substitution T C upstream_gene_variant LUSC-KR 22 20724264 20724264 single base substitution C G intron_variant LUSC-KR 22 20725142 20725142 single base substitution C A intron_variant LUSC-KR 22 20729885 20729885 single base substitution C T missense_variant V46I 136G>A LUSC-KR 22 20729885 20729885 single base substitution C T missense_variant V99I 295G>A LUSC-KR 22 20729885 20729885 single base substitution C T upstream_gene_variant LUSC-KR 22 20731219 20731219 single base substitution C T intron_variant LUSC-KR 22 20731219 20731219 single base substitution C T upstream_gene_variant LUSC-KR 22 20732822 20732822 single base substitution T A intron_variant LUSC-KR 22 20732822 20732822 single base substitution T A upstream_gene_variant LUSC-KR 22 20733160 20733160 single base substitution A C intron_variant LUSC-KR 22 20733160 20733160 single base substitution A C upstream_gene_variant LUSC-KR 22 20735998 20735998 single base substitution T A intron_variant LUSC-KR 22 20735998 20735998 single base substitution T A upstream_gene_variant LUSC-KR 22 20739607 20739607 single base substitution G T intron_variant LUSC-KR 22 20749067 20749067 single base substitution A T upstream_gene_variant MALY-DE 22 20708972 20708972 single base substitution C T intron_variant MALY-DE 22 20708977 20708977 single base substitution G T intron_variant MALY-DE 22 20708980 20708980 single base substitution G A intron_variant MALY-DE 22 20735642 20735642 single base substitution A T intron_variant MALY-DE 22 20735642 20735642 single base substitution A T upstream_gene_variant MALY-DE 22 20738891 20738891 single base substitution G A intron_variant MALY-DE 22 20741512 20741512 single base substitution T C intron_variant MELA-AU 22 20704306 20704306 single base substitution C T downstream_gene_variant MELA-AU 22 20704321 20704322 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 20705225 20705225 single base substitution G A intron_variant MELA-AU 22 20705249 20705249 single base substitution T C intron_variant MELA-AU 22 20705852 20705852 single base substitution G A intron_variant MELA-AU 22 20706338 20706338 single base substitution A C intron_variant MELA-AU 22 20706400 20706400 single base substitution A G intron_variant MELA-AU 22 20706403 20706403 single base substitution C T intron_variant MELA-AU 22 20706456 20706456 single base substitution G T intron_variant MELA-AU 22 20706829 20706829 single base substitution C T intron_variant MELA-AU 22 20706853 20706853 single base substitution C T intron_variant MELA-AU 22 20706929 20706929 single base substitution G A intron_variant MELA-AU 22 20708368 20708368 single base substitution G A intron_variant MELA-AU 22 20708653 20708653 single base substitution G A intron_variant MELA-AU 22 20708712 20708712 single base substitution C T intron_variant MELA-AU 22 20708773 20708773 single base substitution G A intron_variant MELA-AU 22 20708776 20708776 single base substitution G A intron_variant MELA-AU 22 20708827 20708827 single base substitution G A intron_variant MELA-AU 22 20708854 20708854 single base substitution G A intron_variant MELA-AU 22 20708868 20708868 single base substitution C T intron_variant MELA-AU 22 20709023 20709023 single base substitution C G intron_variant MELA-AU 22 20709027 20709027 single base substitution C T intron_variant MELA-AU 22 20709112 20709112 single base substitution G A intron_variant MELA-AU 22 20709133 20709133 single base substitution G A intron_variant MELA-AU 22 20709402 20709402 single base substitution C T intron_variant MELA-AU 22 20709421 20709421 single base substitution G A intron_variant MELA-AU 22 20709453 20709453 single base substitution C T intron_variant MELA-AU 22 20709460 20709460 single base substitution C T intron_variant MELA-AU 22 20709545 20709545 single base substitution G A intron_variant MELA-AU 22 20709891 20709891 single base substitution C T intron_variant MELA-AU 22 20709896 20709896 single base substitution C T intron_variant MELA-AU 22 20709942 20709942 single base substitution G A intron_variant MELA-AU 22 20710047 20710047 single base substitution G A intron_variant MELA-AU 22 20710050 20710050 single base substitution G A intron_variant MELA-AU 22 20710263 20710263 single base substitution G A intron_variant MELA-AU 22 20710441 20710441 single base substitution G A intron_variant MELA-AU 22 20710545 20710545 single base substitution C T intron_variant MELA-AU 22 20710644 20710644 single base substitution G A intron_variant MELA-AU 22 20710743 20710743 single base substitution T G intron_variant MELA-AU 22 20710837 20710837 single base substitution C T intron_variant MELA-AU 22 20711154 20711154 single base substitution G A intron_variant MELA-AU 22 20711345 20711345 single base substitution C T intron_variant MELA-AU 22 20711373 20711373 single base substitution G A intron_variant MELA-AU 22 20711377 20711377 single base substitution A G intron_variant MELA-AU 22 20711409 20711409 single base substitution G A intron_variant MELA-AU 22 20711477 20711477 single base substitution G C intron_variant MELA-AU 22 20711524 20711524 single base substitution G A intron_variant MELA-AU 22 20711567 20711567 single base substitution C T intron_variant MELA-AU 22 20711605 20711605 single base substitution C T intron_variant MELA-AU 22 20711794 20711794 single base substitution G A intron_variant MELA-AU 22 20711834 20711834 single base substitution G A intron_variant MELA-AU 22 20711948 20711948 single base substitution C T intron_variant MELA-AU 22 20711960 20711960 single base substitution C T intron_variant MELA-AU 22 20711967 20711967 single base substitution G A intron_variant MELA-AU 22 20712105 20712105 single base substitution C T intron_variant MELA-AU 22 20712476 20712476 single base substitution C T intron_variant MELA-AU 22 20712494 20712494 single base substitution C T intron_variant MELA-AU 22 20713042 20713042 single base substitution G A downstream_gene_variant MELA-AU 22 20713042 20713042 single base substitution G A intron_variant MELA-AU 22 20713055 20713055 single base substitution G A downstream_gene_variant MELA-AU 22 20713055 20713055 single base substitution G A intron_variant MELA-AU 22 20713264 20713264 single base substitution C T downstream_gene_variant MELA-AU 22 20713264 20713264 single base substitution C T intron_variant MELA-AU 22 20713307 20713307 single base substitution G C downstream_gene_variant MELA-AU 22 20713307 20713307 single base substitution G C intron_variant MELA-AU 22 20713735 20713735 single base substitution C T downstream_gene_variant MELA-AU 22 20713735 20713735 single base substitution C T intron_variant MELA-AU 22 20713954 20713954 single base substitution C T downstream_gene_variant MELA-AU 22 20713954 20713954 single base substitution C T intron_variant MELA-AU 22 20714023 20714023 single base substitution C T downstream_gene_variant MELA-AU 22 20714023 20714023 single base substitution C T intron_variant MELA-AU 22 20714408 20714408 single base substitution G A downstream_gene_variant MELA-AU 22 20714408 20714408 single base substitution G A intron_variant MELA-AU 22 20714462 20714462 single base substitution G A downstream_gene_variant MELA-AU 22 20714462 20714462 single base substitution G A intron_variant MELA-AU 22 20714473 20714473 single base substitution C T downstream_gene_variant MELA-AU 22 20714473 20714473 single base substitution C T intron_variant MELA-AU 22 20714617 20714617 single base substitution C T downstream_gene_variant MELA-AU 22 20714617 20714617 single base substitution C T intron_variant MELA-AU 22 20714644 20714644 single base substitution C T downstream_gene_variant MELA-AU 22 20714644 20714644 single base substitution C T intron_variant MELA-AU 22 20714659 20714659 single base substitution C T downstream_gene_variant MELA-AU 22 20714659 20714659 single base substitution C T intron_variant MELA-AU 22 20714731 20714731 single base substitution G C downstream_gene_variant MELA-AU 22 20714731 20714731 single base substitution G C intron_variant MELA-AU 22 20714813 20714813 single base substitution G A downstream_gene_variant MELA-AU 22 20714813 20714813 single base substitution G A intron_variant MELA-AU 22 20714948 20714948 single base substitution G A downstream_gene_variant MELA-AU 22 20714948 20714948 single base substitution G A intron_variant MELA-AU 22 20715063 20715063 single base substitution C T downstream_gene_variant MELA-AU 22 20715063 20715063 single base substitution C T intron_variant MELA-AU 22 20715164 20715164 single base substitution G A downstream_gene_variant MELA-AU 22 20715164 20715164 single base substitution G A intron_variant MELA-AU 22 20715184 20715184 single base substitution C T downstream_gene_variant MELA-AU 22 20715184 20715184 single base substitution C T intron_variant MELA-AU 22 20715326 20715326 single base substitution G A downstream_gene_variant MELA-AU 22 20715326 20715326 single base substitution G A intron_variant MELA-AU 22 20715520 20715520 single base substitution G A downstream_gene_variant MELA-AU 22 20715520 20715520 single base substitution G A intron_variant MELA-AU 22 20715601 20715601 single base substitution G A downstream_gene_variant MELA-AU 22 20715601 20715601 single base substitution G A intron_variant MELA-AU 22 20715605 20715605 single base substitution C T downstream_gene_variant MELA-AU 22 20715605 20715605 single base substitution C T intron_variant MELA-AU 22 20716011 20716011 single base substitution C T downstream_gene_variant MELA-AU 22 20716011 20716011 single base substitution C T intron_variant MELA-AU 22 20716077 20716077 single base substitution C T downstream_gene_variant MELA-AU 22 20716077 20716077 single base substitution C T intron_variant MELA-AU 22 20716366 20716366 single base substitution A C downstream_gene_variant MELA-AU 22 20716366 20716366 single base substitution A C intron_variant MELA-AU 22 20717197 20717197 single base substitution C T downstream_gene_variant MELA-AU 22 20717197 20717197 single base substitution C T intron_variant MELA-AU 22 20717271 20717271 single base substitution C T downstream_gene_variant MELA-AU 22 20717271 20717271 single base substitution C T intron_variant MELA-AU 22 20717322 20717322 single base substitution G A downstream_gene_variant MELA-AU 22 20717322 20717322 single base substitution G A intron_variant MELA-AU 22 20718699 20718699 single base substitution G A intron_variant MELA-AU 22 20718699 20718699 single base substitution G A upstream_gene_variant MELA-AU 22 20718766 20718766 single base substitution T C intron_variant MELA-AU 22 20718766 20718766 single base substitution T C upstream_gene_variant MELA-AU 22 20718959 20718959 single base substitution C T intron_variant MELA-AU 22 20718959 20718959 single base substitution C T upstream_gene_variant MELA-AU 22 20719542 20719542 single base substitution C T intron_variant MELA-AU 22 20719542 20719542 single base substitution C T upstream_gene_variant MELA-AU 22 20719701 20719701 single base substitution C T intron_variant MELA-AU 22 20719701 20719701 single base substitution C T upstream_gene_variant MELA-AU 22 20719928 20719928 single base substitution T G intron_variant MELA-AU 22 20719928 20719928 single base substitution T G upstream_gene_variant MELA-AU 22 20721109 20721109 single base substitution C T intron_variant MELA-AU 22 20721109 20721109 single base substitution C T upstream_gene_variant MELA-AU 22 20721313 20721313 single base substitution G A intron_variant MELA-AU 22 20721313 20721313 single base substitution G A upstream_gene_variant MELA-AU 22 20721315 20721315 single base substitution G A intron_variant MELA-AU 22 20721315 20721315 single base substitution G A upstream_gene_variant MELA-AU 22 20721322 20721322 single base substitution C T intron_variant MELA-AU 22 20721322 20721322 single base substitution C T upstream_gene_variant MELA-AU 22 20721347 20721347 single base substitution C T intron_variant MELA-AU 22 20721347 20721347 single base substitution C T upstream_gene_variant MELA-AU 22 20721356 20721356 single base substitution C T intron_variant MELA-AU 22 20721356 20721356 single base substitution C T upstream_gene_variant MELA-AU 22 20721524 20721524 single base substitution G A intron_variant MELA-AU 22 20721524 20721524 single base substitution G A upstream_gene_variant MELA-AU 22 20721900 20721900 single base substitution C T exon_variant MELA-AU 22 20721900 20721900 single base substitution C T missense_variant E168K 502G>A MELA-AU 22 20721900 20721900 single base substitution C T missense_variant E221K 661G>A MELA-AU 22 20721900 20721900 single base substitution C T upstream_gene_variant MELA-AU 22 20721913 20721913 single base substitution G A exon_variant MELA-AU 22 20721913 20721913 single base substitution G A synonymous_variant F163F 489C>T MELA-AU 22 20721913 20721913 single base substitution G A synonymous_variant F216F 648C>T MELA-AU 22 20721913 20721913 single base substitution G A upstream_gene_variant MELA-AU 22 20721997 20721997 single base substitution C T intron_variant MELA-AU 22 20721997 20721997 single base substitution C T upstream_gene_variant MELA-AU 22 20722257 20722257 single base substitution G A intron_variant MELA-AU 22 20722257 20722257 single base substitution G A upstream_gene_variant MELA-AU 22 20722419 20722419 single base substitution C T intron_variant MELA-AU 22 20722419 20722419 single base substitution C T upstream_gene_variant MELA-AU 22 20722491 20722491 single base substitution C T intron_variant MELA-AU 22 20722491 20722491 single base substitution C T upstream_gene_variant MELA-AU 22 20722525 20722525 single base substitution G A intron_variant MELA-AU 22 20722525 20722525 single base substitution G A upstream_gene_variant MELA-AU 22 20722526 20722526 single base substitution G A intron_variant MELA-AU 22 20722526 20722526 single base substitution G A upstream_gene_variant MELA-AU 22 20722548 20722548 single base substitution G A intron_variant MELA-AU 22 20722548 20722548 single base substitution G A upstream_gene_variant MELA-AU 22 20722848 20722848 single base substitution G A intron_variant MELA-AU 22 20722848 20722848 single base substitution G A upstream_gene_variant MELA-AU 22 20722980 20722980 single base substitution G A intron_variant MELA-AU 22 20722980 20722980 single base substitution G A upstream_gene_variant MELA-AU 22 20723099 20723099 single base substitution C T intron_variant MELA-AU 22 20723099 20723099 single base substitution C T upstream_gene_variant MELA-AU 22 20723104 20723104 single base substitution G A intron_variant MELA-AU 22 20723104 20723104 single base substitution G A upstream_gene_variant MELA-AU 22 20723359 20723359 single base substitution G A intron_variant MELA-AU 22 20723359 20723359 single base substitution G A upstream_gene_variant MELA-AU 22 20723474 20723474 single base substitution G A intron_variant MELA-AU 22 20723474 20723474 single base substitution G A upstream_gene_variant MELA-AU 22 20723615 20723615 single base substitution C T intron_variant MELA-AU 22 20724053 20724053 single base substitution G A intron_variant MELA-AU 22 20724102 20724102 single base substitution C T intron_variant MELA-AU 22 20724138 20724138 single base substitution C T intron_variant MELA-AU 22 20724299 20724299 single base substitution G A intron_variant MELA-AU 22 20724308 20724308 single base substitution G A intron_variant MELA-AU 22 20724615 20724615 single base substitution G A intron_variant MELA-AU 22 20725128 20725128 single base substitution G A intron_variant MELA-AU 22 20725292 20725292 single base substitution C T intron_variant MELA-AU 22 20725713 20725713 single base substitution G A intron_variant MELA-AU 22 20728042 20728043 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 20728042 20728043 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 22 20728227 20728227 single base substitution A G intron_variant MELA-AU 22 20728227 20728227 single base substitution A G upstream_gene_variant MELA-AU 22 20728953 20728953 single base substitution G T intron_variant MELA-AU 22 20728953 20728953 single base substitution G T upstream_gene_variant MELA-AU 22 20729374 20729374 single base substitution G A intron_variant MELA-AU 22 20729374 20729374 single base substitution G A upstream_gene_variant MELA-AU 22 20729484 20729484 single base substitution T G intron_variant MELA-AU 22 20729484 20729484 single base substitution T G upstream_gene_variant MELA-AU 22 20729737 20729738 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 20729737 20729738 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 22 20729771 20729771 single base substitution G A intron_variant MELA-AU 22 20729771 20729771 single base substitution G A upstream_gene_variant MELA-AU 22 20730720 20730720 single base substitution G A intron_variant MELA-AU 22 20730720 20730720 single base substitution G A upstream_gene_variant MELA-AU 22 20731681 20731681 single base substitution G A intron_variant MELA-AU 22 20731681 20731681 single base substitution G A upstream_gene_variant MELA-AU 22 20731771 20731771 single base substitution T C intron_variant MELA-AU 22 20731771 20731771 single base substitution T C upstream_gene_variant MELA-AU 22 20731970 20731970 single base substitution C T intron_variant MELA-AU 22 20731970 20731970 single base substitution C T upstream_gene_variant MELA-AU 22 20732547 20732547 single base substitution C T intron_variant MELA-AU 22 20732547 20732547 single base substitution C T upstream_gene_variant MELA-AU 22 20732915 20732915 single base substitution C T intron_variant MELA-AU 22 20732915 20732915 single base substitution C T upstream_gene_variant MELA-AU 22 20733675 20733675 single base substitution T C intron_variant MELA-AU 22 20733675 20733675 single base substitution T C upstream_gene_variant MELA-AU 22 20733944 20733944 single base substitution G A intron_variant MELA-AU 22 20733944 20733944 single base substitution G A upstream_gene_variant MELA-AU 22 20734047 20734047 single base substitution A C intron_variant MELA-AU 22 20734047 20734047 single base substitution A C upstream_gene_variant MELA-AU 22 20734102 20734102 single base substitution G A intron_variant MELA-AU 22 20734102 20734102 single base substitution G A upstream_gene_variant MELA-AU 22 20734143 20734143 single base substitution C T intron_variant MELA-AU 22 20734143 20734143 single base substitution C T upstream_gene_variant MELA-AU 22 20734370 20734370 single base substitution C T intron_variant MELA-AU 22 20734370 20734370 single base substitution C T upstream_gene_variant MELA-AU 22 20734449 20734449 single base substitution G A intron_variant MELA-AU 22 20734449 20734449 single base substitution G A upstream_gene_variant MELA-AU 22 20734465 20734465 single base substitution G A intron_variant MELA-AU 22 20734465 20734465 single base substitution G A upstream_gene_variant MELA-AU 22 20734689 20734689 single base substitution G A intron_variant MELA-AU 22 20734689 20734689 single base substitution G A upstream_gene_variant MELA-AU 22 20735343 20735343 single base substitution G A intron_variant MELA-AU 22 20735343 20735343 single base substitution G A upstream_gene_variant MELA-AU 22 20735642 20735642 single base substitution A T intron_variant MELA-AU 22 20735642 20735642 single base substitution A T upstream_gene_variant MELA-AU 22 20735646 20735646 single base substitution T A intron_variant MELA-AU 22 20735646 20735646 single base substitution T A upstream_gene_variant MELA-AU 22 20735747 20735747 single base substitution G A intron_variant MELA-AU 22 20735747 20735747 single base substitution G A upstream_gene_variant MELA-AU 22 20736002 20736002 single base substitution T C intron_variant MELA-AU 22 20736002 20736002 single base substitution T C upstream_gene_variant MELA-AU 22 20736124 20736124 single base substitution G A intron_variant MELA-AU 22 20736124 20736124 single base substitution G A upstream_gene_variant MELA-AU 22 20736259 20736259 single base substitution G A intron_variant MELA-AU 22 20736259 20736259 single base substitution G A upstream_gene_variant MELA-AU 22 20736595 20736595 single base substitution G A intron_variant MELA-AU 22 20736626 20736626 single base substitution G A intron_variant MELA-AU 22 20736913 20736913 single base substitution C T intron_variant MELA-AU 22 20737091 20737091 single base substitution C T intron_variant MELA-AU 22 20737342 20737342 single base substitution T A intron_variant MELA-AU 22 20737656 20737656 single base substitution C T intron_variant MELA-AU 22 20737745 20737745 single base substitution T A intron_variant MELA-AU 22 20737755 20737755 single base substitution G A intron_variant MELA-AU 22 20738516 20738516 single base substitution C T intron_variant MELA-AU 22 20738869 20738869 single base substitution C T intron_variant MELA-AU 22 20738971 20738971 single base substitution C T intron_variant MELA-AU 22 20739111 20739111 single base substitution C T intron_variant MELA-AU 22 20739857 20739857 single base substitution C T intron_variant MELA-AU 22 20740070 20740070 single base substitution G A intron_variant MELA-AU 22 20740414 20740414 single base substitution T A intron_variant MELA-AU 22 20740519 20740519 single base substitution G A intron_variant MELA-AU 22 20740755 20740775 deletion of <=200bp AATCTCTCTAATAAGTGGAGA - intron_variant MELA-AU 22 20740821 20740821 single base substitution A G intron_variant MELA-AU 22 20740870 20740870 single base substitution G A intron_variant MELA-AU 22 20740904 20740904 single base substitution C T intron_variant MELA-AU 22 20741058 20741058 single base substitution C T intron_variant MELA-AU 22 20741160 20741160 single base substitution C T intron_variant MELA-AU 22 20741410 20741410 single base substitution C T intron_variant MELA-AU 22 20741533 20741533 single base substitution G A intron_variant MELA-AU 22 20741622 20741622 single base substitution G A intron_variant MELA-AU 22 20741780 20741780 single base substitution G A intron_variant MELA-AU 22 20741792 20741792 single base substitution C T intron_variant MELA-AU 22 20741915 20741915 single base substitution G A intron_variant MELA-AU 22 20742019 20742019 single base substitution G A intron_variant MELA-AU 22 20742207 20742207 single base substitution C T intron_variant MELA-AU 22 20742332 20742332 single base substitution G A intron_variant MELA-AU 22 20742334 20742334 single base substitution A G intron_variant MELA-AU 22 20742453 20742453 single base substitution C T intron_variant MELA-AU 22 20742476 20742476 single base substitution G A intron_variant MELA-AU 22 20742614 20742614 single base substitution G A intron_variant MELA-AU 22 20742690 20742690 single base substitution G A intron_variant MELA-AU 22 20742783 20742783 single base substitution G A intron_variant MELA-AU 22 20742828 20742828 single base substitution C T intron_variant MELA-AU 22 20743434 20743434 single base substitution C T intron_variant MELA-AU 22 20743435 20743435 single base substitution C T intron_variant MELA-AU 22 20743456 20743456 single base substitution C T intron_variant MELA-AU 22 20743535 20743535 single base substitution G A intron_variant MELA-AU 22 20743570 20743570 single base substitution G A intron_variant MELA-AU 22 20743902 20743902 single base substitution C T intron_variant MELA-AU 22 20744032 20744032 single base substitution G A intron_variant MELA-AU 22 20744380 20744380 single base substitution G A intron_variant MELA-AU 22 20744464 20744464 single base substitution A T intron_variant MELA-AU 22 20744481 20744481 single base substitution C T intron_variant MELA-AU 22 20744576 20744576 single base substitution C T intron_variant MELA-AU 22 20744687 20744687 single base substitution C T intron_variant MELA-AU 22 20744996 20744996 single base substitution G A intron_variant MELA-AU 22 20745934 20745934 single base substitution C T upstream_gene_variant MELA-AU 22 20746280 20746280 single base substitution T C upstream_gene_variant MELA-AU 22 20746645 20746645 single base substitution G A upstream_gene_variant MELA-AU 22 20746819 20746819 single base substitution G A upstream_gene_variant MELA-AU 22 20747117 20747117 single base substitution G A upstream_gene_variant MELA-AU 22 20747210 20747210 single base substitution C T upstream_gene_variant MELA-AU 22 20748051 20748051 single base substitution G A upstream_gene_variant MELA-AU 22 20748532 20748532 single base substitution C T upstream_gene_variant MELA-AU 22 20749174 20749174 single base substitution C T upstream_gene_variant MELA-AU 22 20749693 20749693 single base substitution C T upstream_gene_variant MELA-AU 22 20749758 20749758 single base substitution C T upstream_gene_variant MELA-AU 22 20749761 20749762 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 22 20749875 20749875 single base substitution C T upstream_gene_variant OV-AU 22 20707037 20707037 single base substitution C T intron_variant OV-AU 22 20710093 20710093 single base substitution T C intron_variant OV-AU 22 20710292 20710292 single base substitution G C intron_variant OV-AU 22 20711827 20711827 single base substitution C G intron_variant OV-AU 22 20712391 20712391 single base substitution G T intron_variant OV-AU 22 20712878 20712878 single base substitution G A intron_variant OV-AU 22 20724402 20724402 single base substitution G T splice_region_variant OV-AU 22 20728510 20728510 single base substitution G A intron_variant OV-AU 22 20728510 20728510 single base substitution G A upstream_gene_variant OV-AU 22 20734933 20734933 single base substitution G A intron_variant OV-AU 22 20734933 20734933 single base substitution G A upstream_gene_variant OV-AU 22 20748299 20748299 single base substitution G C upstream_gene_variant OV-AU 22 20748733 20748733 single base substitution A C upstream_gene_variant OV-AU 22 20749471 20749471 single base substitution C T upstream_gene_variant PACA-AU 22 20705362 20705362 single base substitution C T intron_variant PACA-AU 22 20709140 20709140 single base substitution A G intron_variant PACA-AU 22 20709398 20709398 single base substitution A G intron_variant PACA-AU 22 20710725 20710725 single base substitution G T intron_variant PACA-AU 22 20710730 20710730 single base substitution C T intron_variant PACA-AU 22 20711029 20711029 single base substitution T C intron_variant PACA-AU 22 20711276 20711276 single base substitution C T intron_variant PACA-AU 22 20711372 20711372 single base substitution C T intron_variant PACA-AU 22 20711610 20711610 single base substitution G A intron_variant PACA-AU 22 20712543 20712543 single base substitution G A intron_variant PACA-AU 22 20713486 20713486 single base substitution C T downstream_gene_variant PACA-AU 22 20713486 20713486 single base substitution C T intron_variant PACA-AU 22 20713949 20713949 single base substitution G A downstream_gene_variant PACA-AU 22 20713949 20713949 single base substitution G A intron_variant PACA-AU 22 20714548 20714548 single base substitution C T downstream_gene_variant PACA-AU 22 20714548 20714548 single base substitution C T intron_variant PACA-AU 22 20715422 20715448 deletion of <=200bp GGCATCGCTAATGAGGTCGCCGCCCAG - downstream_gene_variant PACA-AU 22 20715422 20715448 deletion of <=200bp GGCATCGCTAATGAGGTCGCCGCCCAG - intron_variant PACA-AU 22 20716039 20716039 single base substitution G A downstream_gene_variant PACA-AU 22 20716039 20716039 single base substitution G A intron_variant PACA-AU 22 20721985 20721985 single base substitution G C intron_variant PACA-AU 22 20721985 20721985 single base substitution G C upstream_gene_variant PACA-AU 22 20722965 20722965 single base substitution C T intron_variant PACA-AU 22 20722965 20722965 single base substitution C T upstream_gene_variant PACA-AU 22 20723512 20723512 single base substitution G A intron_variant PACA-AU 22 20723512 20723512 single base substitution G A upstream_gene_variant PACA-AU 22 20723528 20723528 single base substitution C T intron_variant PACA-AU 22 20723528 20723528 single base substitution C T upstream_gene_variant PACA-AU 22 20725609 20725609 single base substitution G A intron_variant PACA-AU 22 20728288 20728288 single base substitution C G intron_variant PACA-AU 22 20728288 20728288 single base substitution C G upstream_gene_variant PACA-AU 22 20730631 20730631 single base substitution A G intron_variant PACA-AU 22 20730631 20730631 single base substitution A G upstream_gene_variant PACA-AU 22 20736395 20736395 single base substitution C G intron_variant PACA-AU 22 20736395 20736395 single base substitution C G upstream_gene_variant PACA-AU 22 20738685 20738685 single base substitution C T intron_variant PACA-AU 22 20739202 20739202 single base substitution G A intron_variant PACA-AU 22 20741643 20741643 single base substitution G A intron_variant PACA-AU 22 20742000 20742000 single base substitution G C intron_variant PACA-AU 22 20743642 20743642 single base substitution C T intron_variant PACA-AU 22 20744202 20744202 single base substitution C G intron_variant PACA-AU 22 20744423 20744423 single base substitution C T intron_variant PACA-AU 22 20744852 20744852 single base substitution T A missense_variant Q10L 29A>T PACA-AU 22 20746687 20746687 single base substitution G A upstream_gene_variant PACA-CA 22 20709132 20709132 single base substitution A C intron_variant PACA-CA 22 20709199 20709199 single base substitution T G intron_variant PACA-CA 22 20709393 20709393 single base substitution C T intron_variant PACA-CA 22 20709649 20709649 single base substitution G C intron_variant PACA-CA 22 20709662 20709662 single base substitution A T intron_variant PACA-CA 22 20709682 20709682 single base substitution G A intron_variant PACA-CA 22 20709849 20709849 single base substitution C T intron_variant PACA-CA 22 20710357 20710357 single base substitution A G intron_variant PACA-CA 22 20710406 20710406 single base substitution C T intron_variant PACA-CA 22 20711421 20711421 single base substitution T G intron_variant PACA-CA 22 20711435 20711435 single base substitution T C intron_variant PACA-CA 22 20711792 20711792 single base substitution C T intron_variant PACA-CA 22 20712650 20712650 single base substitution C T intron_variant PACA-CA 22 20712686 20712686 single base substitution C T intron_variant PACA-CA 22 20714440 20714440 single base substitution C T downstream_gene_variant PACA-CA 22 20714440 20714440 single base substitution C T intron_variant PACA-CA 22 20714819 20714819 single base substitution G A downstream_gene_variant PACA-CA 22 20714819 20714819 single base substitution G A intron_variant PACA-CA 22 20715460 20715460 single base substitution C T downstream_gene_variant PACA-CA 22 20715460 20715460 single base substitution C T intron_variant PACA-CA 22 20716075 20716075 single base substitution G A downstream_gene_variant PACA-CA 22 20716075 20716075 single base substitution G A intron_variant PACA-CA 22 20716527 20716527 single base substitution C T downstream_gene_variant PACA-CA 22 20716527 20716527 single base substitution C T intron_variant PACA-CA 22 20717375 20717375 single base substitution A T downstream_gene_variant PACA-CA 22 20717375 20717375 single base substitution A T intron_variant PACA-CA 22 20717615 20717615 single base substitution T C downstream_gene_variant PACA-CA 22 20717615 20717615 single base substitution T C intron_variant PACA-CA 22 20718100 20718100 single base substitution C T intron_variant PACA-CA 22 20719484 20719484 deletion of <=200bp A - intron_variant PACA-CA 22 20719484 20719484 deletion of <=200bp A - upstream_gene_variant PACA-CA 22 20719903 20719903 single base substitution G A intron_variant PACA-CA 22 20719903 20719903 single base substitution G A upstream_gene_variant PACA-CA 22 20722224 20722224 single base substitution C T intron_variant PACA-CA 22 20722224 20722224 single base substitution C T upstream_gene_variant PACA-CA 22 20722555 20722555 single base substitution A C intron_variant PACA-CA 22 20722555 20722555 single base substitution A C upstream_gene_variant PACA-CA 22 20729790 20729790 single base substitution G T stop_gained Y130* 390C>A PACA-CA 22 20729790 20729790 single base substitution G T stop_gained Y77* 231C>A PACA-CA 22 20729790 20729790 single base substitution G T upstream_gene_variant PACA-CA 22 20731236 20731236 insertion of <=200bp - A intron_variant PACA-CA 22 20731236 20731236 insertion of <=200bp - A upstream_gene_variant PACA-CA 22 20733241 20733241 single base substitution G C intron_variant PACA-CA 22 20733241 20733241 single base substitution G C upstream_gene_variant PACA-CA 22 20733659 20733659 single base substitution G C intron_variant PACA-CA 22 20733659 20733659 single base substitution G C upstream_gene_variant PACA-CA 22 20734159 20734159 single base substitution T C intron_variant PACA-CA 22 20734159 20734159 single base substitution T C upstream_gene_variant PACA-CA 22 20734769 20734769 single base substitution A G intron_variant PACA-CA 22 20734769 20734769 single base substitution A G upstream_gene_variant PACA-CA 22 20734868 20734868 single base substitution G C intron_variant PACA-CA 22 20734868 20734868 single base substitution G C upstream_gene_variant PACA-CA 22 20736009 20736009 single base substitution A T intron_variant PACA-CA 22 20736009 20736009 single base substitution A T upstream_gene_variant PACA-CA 22 20738176 20738176 single base substitution C A intron_variant PACA-CA 22 20739458 20739458 single base substitution C T intron_variant PACA-CA 22 20741010 20741010 single base substitution A T intron_variant PACA-CA 22 20741587 20741587 single base substitution T C intron_variant PACA-CA 22 20743522 20743522 single base substitution C T intron_variant PACA-CA 22 20745372 20745372 single base substitution C T upstream_gene_variant PACA-CA 22 20746998 20746998 single base substitution C T upstream_gene_variant PAEN-AU 22 20705362 20705362 single base substitution C T intron_variant PAEN-AU 22 20709393 20709393 single base substitution C T intron_variant PAEN-AU 22 20710847 20710847 single base substitution C T intron_variant PAEN-AU 22 20715422 20715448 deletion of <=200bp GGCATCGCTAATGAGGTCGCCGCCCAG - downstream_gene_variant PAEN-AU 22 20715422 20715448 deletion of <=200bp GGCATCGCTAATGAGGTCGCCGCCCAG - intron_variant PAEN-AU 22 20717679 20717679 single base substitution G A downstream_gene_variant PAEN-AU 22 20717679 20717679 single base substitution G A intron_variant PAEN-AU 22 20721306 20721306 single base substitution G A intron_variant PAEN-AU 22 20721306 20721306 single base substitution G A upstream_gene_variant PAEN-AU 22 20724121 20724121 single base substitution C T intron_variant PAEN-IT 22 20735483 20735483 single base substitution C T intron_variant PAEN-IT 22 20735483 20735483 single base substitution C T upstream_gene_variant PBCA-DE 22 20708428 20708441 deletion of <=200bp CCTGGAAAATGATT - intron_variant PBCA-DE 22 20708977 20708977 single base substitution G T intron_variant PBCA-DE 22 20708980 20708980 single base substitution G A intron_variant PBCA-DE 22 20709132 20709132 single base substitution A C intron_variant PBCA-DE 22 20709140 20709140 single base substitution A G intron_variant PBCA-DE 22 20715953 20715953 single base substitution A T downstream_gene_variant PBCA-DE 22 20715953 20715953 single base substitution A T intron_variant PBCA-DE 22 20716821 20716821 insertion of <=200bp - A downstream_gene_variant PBCA-DE 22 20716821 20716821 insertion of <=200bp - A intron_variant PBCA-DE 22 20719835 20719835 single base substitution G T intron_variant PBCA-DE 22 20719835 20719835 single base substitution G T upstream_gene_variant PBCA-DE 22 20731886 20731886 insertion of <=200bp - GG intron_variant PBCA-DE 22 20731886 20731886 insertion of <=200bp - GG upstream_gene_variant PBCA-DE 22 20731888 20731889 deletion of <=200bp TG - intron_variant PBCA-DE 22 20731888 20731889 deletion of <=200bp TG - upstream_gene_variant PBCA-DE 22 20737249 20737249 single base substitution T C intron_variant PBCA-DE 22 20742265 20742265 single base substitution T C intron_variant PBCA-DE 22 20746795 20746795 single base substitution C T upstream_gene_variant PRAD-CA 22 20709228 20709228 single base substitution G A intron_variant PRAD-CA 22 20709228 20709228 single base substitution G T intron_variant PRAD-CA 22 20711544 20711544 single base substitution G A intron_variant PRAD-CA 22 20714686 20714686 single base substitution C T downstream_gene_variant PRAD-CA 22 20714686 20714686 single base substitution C T intron_variant PRAD-CA 22 20714746 20714746 single base substitution G A downstream_gene_variant PRAD-CA 22 20714746 20714746 single base substitution G A intron_variant PRAD-CA 22 20714902 20714902 single base substitution C T downstream_gene_variant PRAD-CA 22 20714902 20714902 single base substitution C T intron_variant PRAD-CA 22 20715953 20715953 single base substitution A T downstream_gene_variant PRAD-CA 22 20715953 20715953 single base substitution A T intron_variant PRAD-CA 22 20715963 20715963 single base substitution G C downstream_gene_variant PRAD-CA 22 20715963 20715963 single base substitution G C intron_variant PRAD-CA 22 20716074 20716074 single base substitution C T downstream_gene_variant PRAD-CA 22 20716074 20716074 single base substitution C T intron_variant PRAD-CA 22 20718786 20718786 single base substitution T C intron_variant PRAD-CA 22 20718786 20718786 single base substitution T C upstream_gene_variant PRAD-UK 22 20709159 20709159 single base substitution C A intron_variant PRAD-UK 22 20709213 20709213 single base substitution C A intron_variant PRAD-UK 22 20709736 20709736 single base substitution G A intron_variant PRAD-UK 22 20710199 20710199 single base substitution C T intron_variant PRAD-UK 22 20711600 20711600 single base substitution C T intron_variant PRAD-UK 22 20711742 20711742 single base substitution G A intron_variant PRAD-UK 22 20712708 20712708 single base substitution G A intron_variant PRAD-UK 22 20713801 20713801 single base substitution C A downstream_gene_variant PRAD-UK 22 20713801 20713801 single base substitution C A intron_variant PRAD-UK 22 20716181 20716181 single base substitution G A downstream_gene_variant PRAD-UK 22 20716181 20716181 single base substitution G A intron_variant PRAD-UK 22 20727297 20727297 insertion of <=200bp - ACA intron_variant PRAD-UK 22 20727297 20727297 insertion of <=200bp - ACA upstream_gene_variant PRAD-UK 22 20727697 20727697 single base substitution C T intron_variant PRAD-UK 22 20727697 20727697 single base substitution C T upstream_gene_variant PRAD-UK 22 20727934 20727934 single base substitution G A intron_variant PRAD-UK 22 20727934 20727934 single base substitution G A upstream_gene_variant PRAD-UK 22 20733028 20733028 single base substitution C A intron_variant PRAD-UK 22 20733028 20733028 single base substitution C A upstream_gene_variant PRAD-UK 22 20745088 20745088 single base substitution C G upstream_gene_variant RECA-EU 22 20712066 20712066 single base substitution G A intron_variant RECA-EU 22 20743548 20743548 single base substitution A T intron_variant SKCA-BR 22 20704573 20704573 single base substitution C T downstream_gene_variant SKCA-BR 22 20704698 20704698 single base substitution G A downstream_gene_variant SKCA-BR 22 20704710 20704710 single base substitution G A downstream_gene_variant SKCA-BR 22 20706333 20706333 single base substitution G A intron_variant SKCA-BR 22 20706452 20706452 single base substitution G A intron_variant SKCA-BR 22 20706562 20706562 single base substitution G A intron_variant SKCA-BR 22 20706620 20706620 single base substitution G A intron_variant SKCA-BR 22 20707191 20707192 deletion of <=200bp CT - intron_variant SKCA-BR 22 20708087 20708087 single base substitution C T intron_variant SKCA-BR 22 20708886 20708886 single base substitution T C intron_variant SKCA-BR 22 20708949 20708976 deletion of <=200bp CGGCGTCGCTAACGAGGTCGCCGCCCAG - intron_variant SKCA-BR 22 20709188 20709215 deletion of <=200bp CCCAGGGCATCTCTAAGGAGGACGCCGT - intron_variant SKCA-BR 22 20709237 20709237 single base substitution T C intron_variant SKCA-BR 22 20709242 20709242 single base substitution C T intron_variant SKCA-BR 22 20709258 20709258 single base substitution G C intron_variant SKCA-BR 22 20709876 20709876 single base substitution C T intron_variant SKCA-BR 22 20710193 20710193 single base substitution C T intron_variant SKCA-BR 22 20710194 20710194 single base substitution C T intron_variant SKCA-BR 22 20710209 20710209 single base substitution G A intron_variant SKCA-BR 22 20710802 20710802 single base substitution G C intron_variant SKCA-BR 22 20710850 20710850 single base substitution C T intron_variant SKCA-BR 22 20711421 20711421 single base substitution T G intron_variant SKCA-BR 22 20711435 20711435 single base substitution T C intron_variant SKCA-BR 22 20711912 20711912 single base substitution C T intron_variant SKCA-BR 22 20713055 20713055 single base substitution G A downstream_gene_variant SKCA-BR 22 20713055 20713055 single base substitution G A intron_variant SKCA-BR 22 20713146 20713173 deletion of <=200bp TCCAGGGCATCGCGAACGAGGACGCCGC - downstream_gene_variant SKCA-BR 22 20713146 20713173 deletion of <=200bp TCCAGGGCATCGCGAACGAGGACGCCGC - intron_variant SKCA-BR 22 20714206 20714233 deletion of <=200bp CGGCGTCGCTAACGAGGACCCCGTCCAG - downstream_gene_variant SKCA-BR 22 20714206 20714233 deletion of <=200bp CGGCGTCGCTAACGAGGACCCCGTCCAG - intron_variant SKCA-BR 22 20714329 20714329 single base substitution G A downstream_gene_variant SKCA-BR 22 20714329 20714329 single base substitution G A intron_variant SKCA-BR 22 20714741 20714741 single base substitution A G downstream_gene_variant SKCA-BR 22 20714741 20714741 single base substitution A G intron_variant SKCA-BR 22 20714965 20714965 single base substitution C T downstream_gene_variant SKCA-BR 22 20714965 20714965 single base substitution C T intron_variant SKCA-BR 22 20716179 20716179 single base substitution C G downstream_gene_variant SKCA-BR 22 20716179 20716179 single base substitution C G intron_variant SKCA-BR 22 20716202 20716202 single base substitution T C downstream_gene_variant SKCA-BR 22 20716202 20716202 single base substitution T C intron_variant SKCA-BR 22 20716203 20716203 single base substitution A C downstream_gene_variant SKCA-BR 22 20716203 20716203 single base substitution A C intron_variant SKCA-BR 22 20716204 20716231 deletion of <=200bp CACGGCATCGCTAACGAGGACTCCGTAT - downstream_gene_variant SKCA-BR 22 20716204 20716231 deletion of <=200bp CACGGCATCGCTAACGAGGACTCCGTAT - intron_variant SKCA-BR 22 20716224 20716224 single base substitution C T downstream_gene_variant SKCA-BR 22 20716224 20716224 single base substitution C T intron_variant SKCA-BR 22 20716233 20716233 single base substitution C T downstream_gene_variant SKCA-BR 22 20716233 20716233 single base substitution C T intron_variant SKCA-BR 22 20716239 20716239 single base substitution C T downstream_gene_variant SKCA-BR 22 20716239 20716239 single base substitution C T intron_variant SKCA-BR 22 20716251 20716251 single base substitution T C downstream_gene_variant SKCA-BR 22 20716251 20716251 single base substitution T C intron_variant SKCA-BR 22 20716252 20716252 single base substitution G T downstream_gene_variant SKCA-BR 22 20716252 20716252 single base substitution G T intron_variant SKCA-BR 22 20716260 20716260 single base substitution T C downstream_gene_variant SKCA-BR 22 20716260 20716260 single base substitution T C intron_variant SKCA-BR 22 20716262 20716262 single base substitution A G downstream_gene_variant SKCA-BR 22 20716262 20716262 single base substitution A G intron_variant SKCA-BR 22 20716679 20716679 single base substitution T G downstream_gene_variant SKCA-BR 22 20716679 20716679 single base substitution T G intron_variant SKCA-BR 22 20718167 20718167 single base substitution T C intron_variant SKCA-BR 22 20718312 20718312 single base substitution G A intron_variant SKCA-BR 22 20718402 20718402 single base substitution G C intron_variant SKCA-BR 22 20718883 20718883 single base substitution C T intron_variant SKCA-BR 22 20718883 20718883 single base substitution C T upstream_gene_variant SKCA-BR 22 20720095 20720096 deletion of <=200bp TC - intron_variant SKCA-BR 22 20720095 20720096 deletion of <=200bp TC - upstream_gene_variant SKCA-BR 22 20720097 20720097 single base substitution C T intron_variant SKCA-BR 22 20720097 20720097 single base substitution C T upstream_gene_variant SKCA-BR 22 20720133 20720133 single base substitution C T intron_variant SKCA-BR 22 20720133 20720133 single base substitution C T upstream_gene_variant SKCA-BR 22 20720294 20720295 deletion of <=200bp AT - intron_variant SKCA-BR 22 20720294 20720295 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 22 20721456 20721456 single base substitution T C intron_variant SKCA-BR 22 20721456 20721456 single base substitution T C upstream_gene_variant SKCA-BR 22 20721463 20721463 single base substitution A G intron_variant SKCA-BR 22 20721463 20721463 single base substitution A G upstream_gene_variant SKCA-BR 22 20722606 20722606 single base substitution G A intron_variant SKCA-BR 22 20722606 20722606 single base substitution G A upstream_gene_variant SKCA-BR 22 20722817 20722817 single base substitution G A intron_variant SKCA-BR 22 20722817 20722817 single base substitution G A upstream_gene_variant SKCA-BR 22 20723252 20723252 single base substitution G A intron_variant SKCA-BR 22 20723252 20723252 single base substitution G A upstream_gene_variant SKCA-BR 22 20724030 20724031 deletion of <=200bp CT - intron_variant SKCA-BR 22 20724271 20724271 single base substitution T C intron_variant SKCA-BR 22 20724308 20724308 single base substitution G A intron_variant SKCA-BR 22 20727287 20727287 single base substitution C T intron_variant SKCA-BR 22 20727287 20727287 single base substitution C T upstream_gene_variant SKCA-BR 22 20727296 20727296 insertion of <=200bp - CACA intron_variant SKCA-BR 22 20727296 20727296 insertion of <=200bp - CACA upstream_gene_variant SKCA-BR 22 20727332 20727332 single base substitution A G intron_variant SKCA-BR 22 20727332 20727332 single base substitution A G upstream_gene_variant SKCA-BR 22 20728092 20728092 single base substitution C T intron_variant SKCA-BR 22 20728092 20728092 single base substitution C T upstream_gene_variant SKCA-BR 22 20728916 20728916 single base substitution G A intron_variant SKCA-BR 22 20728916 20728916 single base substitution G A upstream_gene_variant SKCA-BR 22 20728931 20728931 single base substitution C T intron_variant SKCA-BR 22 20728931 20728931 single base substitution C T upstream_gene_variant SKCA-BR 22 20734293 20734293 single base substitution C T intron_variant SKCA-BR 22 20734293 20734293 single base substitution C T upstream_gene_variant SKCA-BR 22 20735740 20735740 single base substitution C T intron_variant SKCA-BR 22 20735740 20735740 single base substitution C T upstream_gene_variant SKCA-BR 22 20736613 20736613 single base substitution A G intron_variant SKCA-BR 22 20737055 20737055 single base substitution C T intron_variant SKCA-BR 22 20737783 20737783 single base substitution G A intron_variant SKCA-BR 22 20738567 20738567 single base substitution C T intron_variant SKCA-BR 22 20739364 20739364 single base substitution G T intron_variant SKCA-BR 22 20739867 20739867 single base substitution G A intron_variant SKCA-BR 22 20742284 20742284 single base substitution G A intron_variant SKCA-BR 22 20744094 20744094 single base substitution G A intron_variant SKCA-BR 22 20744468 20744468 insertion of <=200bp - AG intron_variant SKCA-BR 22 20745311 20745311 single base substitution G A upstream_gene_variant SKCA-BR 22 20748253 20748253 single base substitution T C upstream_gene_variant SKCA-BR 22 20748438 20748438 single base substitution C T upstream_gene_variant SKCA-BR 22 20748702 20748702 single base substitution A G upstream_gene_variant SKCA-BR 22 20749613 20749613 single base substitution C T upstream_gene_variant SKCM-US 22 20721019 20721019 single base substitution C T exon_variant SKCM-US 22 20721019 20721019 single base substitution C T synonymous_variant L190L 570G>A SKCM-US 22 20721019 20721019 single base substitution C T synonymous_variant L243L 729G>A SKCM-US 22 20721019 20721019 single base substitution C T upstream_gene_variant SKCM-US 22 20729796 20729796 single base substitution C T synonymous_variant Q128Q 384G>A SKCM-US 22 20729796 20729796 single base substitution C T synonymous_variant Q75Q 225G>A SKCM-US 22 20729796 20729796 single base substitution C T upstream_gene_variant SKCM-US 22 20729854 20729854 single base substitution T A missense_variant K109M 326A>T SKCM-US 22 20729854 20729854 single base substitution T A missense_variant K56M 167A>T SKCM-US 22 20729854 20729854 single base substitution T A upstream_gene_variant SKCM-US 22 20729877 20729877 single base substitution G A synonymous_variant F101F 303C>T SKCM-US 22 20729877 20729877 single base substitution G A synonymous_variant F48F 144C>T SKCM-US 22 20729877 20729877 single base substitution G A upstream_gene_variant SKCM-US 22 20729881 20729881 single base substitution G A missense_variant P100L 299C>T SKCM-US 22 20729881 20729881 single base substitution G A missense_variant P47L 140C>T SKCM-US 22 20729881 20729881 single base substitution G A upstream_gene_variant SKCM-US 22 20749677 20749677 single base substitution C T upstream_gene_variant STAD-US 22 20749701 20749701 single base substitution G A upstream_gene_variant THCA-US 22 20724427 20724427 single base substitution T C exon_variant THCA-US 22 20724427 20724427 single base substitution T C missense_variant I102V 304A>G THCA-US 22 20724427 20724427 single base substitution T C missense_variant I155V 463A>G UCEC-US 22 20717917 20717917 single base substitution G A exon_variant UCEC-US 22 20717917 20717917 single base substitution G A splice_region_variant UCEC-US 22 20717917 20717917 single base substitution G A synonymous_variant H304H 912C>T UCEC-US 22 20718500 20718500 single base substitution G A exon_variant UCEC-US 22 20718500 20718500 single base substitution G A synonymous_variant C280C 840C>T UCEC-US 22 20718500 20718500 single base substitution G A synonymous_variant C333C 999C>T UCEC-US 22 20721022 20721022 single base substitution G T splice_region_variant UCEC-US 22 20721022 20721022 single base substitution G T upstream_gene_variant UCEC-US 22 20723739 20723739 single base substitution A G exon_variant UCEC-US 22 20723739 20723739 single base substitution A G missense_variant S150P 448T>C UCEC-US 22 20723739 20723739 single base substitution A G missense_variant S203P 607T>C UCEC-US 22 20723762 20723762 single base substitution C T exon_variant UCEC-US 22 20723762 20723762 single base substitution C T missense_variant R142Q 425G>A UCEC-US 22 20723762 20723762 single base substitution C T missense_variant R195Q 584G>A UCEC-US 22 20748844 20748844 single base substitution G A upstream_gene_variant UCEC-US 22 20749677 20749677 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SCC-9 COSM4597522 c.538G>A p.D180N Substitution - Missense 22:20369518-20369518 - UD-SCC-2 COSM4135162 c.1019A>G p.N340S Substitution - Missense 22:20364235-20364235 - 8030353 COSM3390105 c.123A>T p.S41S Substitution - coding silent 22:20390562-20390562 - TCGA-GM-A3NY-01 COSM3842214 c.559A>G p.M187V Substitution - Missense 22:20369542-20369542 - 1409_T COSM3964104 c.938C>T p.S313F Substitution - Missense 22:20364316-20364316 - TCGA-D8-A1XL-01 COSM4813785 c.870G>T p.E290D Substitution - Missense 22:20366588-20366588 - CN-AML-08-T COSM4135163 c.974A>G p.N325S Substitution - Missense 22:20364235-20364235 - TCGA-AP-A051-01 COSM1032223 c.652T>C p.S218P Substitution - Missense 22:20369449-20369449 - TCGA-AP-A051-01 COSM4872458 c.607T>C p.S203P Substitution - Missense 22:20369449-20369449 - TCGA-AP-A0LM-01 COSM4297455 c.584G>A p.R195Q Substitution - Missense 22:20369472-20369472 - UD-SCC-2 COSM4135163 c.974A>G p.N325S Substitution - Missense 22:20364235-20364235 - UM-SCC-17B COSM4135163 c.974A>G p.N325S Substitution - Missense 22:20364235-20364235 - HCC71 COSM1616247 c.382A>G p.S128G Substitution - Missense 22:20375553-20375553 - Sample_1 COSM4135165 c.295G>A p.V99I Substitution - Missense 22:20375595-20375595 - 1409_T COSM3964105 c.893C>T p.S298F Substitution - Missense 22:20364316-20364316 - PCSI_0116_Pa_X COSM5420109 c.390C>A p.Y130* Substitution - Nonsense 22:20375500-20375500 - UM-SCC-11B COSM4135165 c.295G>A p.V99I Substitution - Missense 22:20375595-20375595 - TCGA-FW-A3R5-06 COSM3552270 c.299C>T p.P100L Substitution - Missense 22:20375591-20375591 - TCGA-FW-A3R5-06 COSM3912406 c.348C>T p.F116F Substitution - coding silent 22:20375587-20375587 - J36_T COSM3964107 c.294C>G p.S98R Substitution - Missense 22:20375596-20375596 - WSU-HN13 COSM4135163 c.974A>G p.N325S Substitution - Missense 22:20364235-20364235 - TCGA-FW-A3R5-06 COSM3552269 c.344C>T p.P115L Substitution - Missense 22:20375591-20375591 - SCC-25 COSM4135162 c.1019A>G p.N340S Substitution - Missense 22:20364235-20364235 - UM-SCC-11B COSM4598153 c.400T>C p.W134R Substitution - Missense 22:20375535-20375535 - PCSI_0116_Pa_X COSM5420108 c.435C>A p.Y145* Substitution - Nonsense 22:20375500-20375500 - TCGA-FW-A3R5-06 COSM3912407 c.303C>T p.F101F Substitution - coding silent 22:20375587-20375587 - HCC71 COSM3708147 c.337A>G p.S113G Substitution - Missense 22:20375553-20375553 - AOCS-161-1-9 COSM4137336 c.525+8C>A p.? Unknown 22:20370112-20370112 - CN-AML-NR-08-Dx COSM4135162 c.1019A>G p.N340S Substitution - Missense 22:20364235-20364235 - UM-SCC-11B COSM4135164 c.340G>A p.V114I Substitution - Missense 22:20375595-20375595 - UPCI:SCC090 COSM4135162 c.1019A>G p.N340S Substitution - Missense 22:20364235-20364235 - UM-SCC-2 COSM4135163 c.974A>G p.N325S Substitution - Missense 22:20364235-20364235 - PT36 COSM5916919 c.399C>T p.P133P Substitution - coding silent 22:20375491-20375491 - TCGA-B5-A0K6-01 COSM4864011 c.1071C>T p.H357H Substitution - coding silent 22:20363627-20363627 - sysucc-771T COSM4135164 c.340G>A p.V114I Substitution - Missense 22:20375595-20375595 - TCGA-D3-A5GU-06 COSM3552269 c.344C>T p.P115L Substitution - Missense 22:20375591-20375591 - SCC-9 COSM4135163 c.974A>G p.N325S Substitution - Missense 22:20364235-20364235 - pfg008T COSM4746764 c.642delT p.F214fs*8 Deletion - Frameshift 22:20369459-20369459 - TCGA-D3-A1Q3-06 COSM3552266 c.774G>A p.L258L Substitution - coding silent 22:20366729-20366729 - PT36 COSM5916918 c.444C>T p.P148P Substitution - coding silent 22:20375491-20375491 - HCC71T COSM3708147 c.337A>G p.S113G Substitution - Missense 22:20375553-20375553 - SCC-15 COSM4135162 c.1019A>G p.N340S Substitution - Missense 22:20364235-20364235 - CN-AML-NR-08-Dx COSM4135163 c.974A>G p.N325S Substitution - Missense 22:20364235-20364235 - TCGA-EE-A2A2-06 COSM3552268 c.384G>A p.Q128Q Substitution - coding silent 22:20375506-20375506 - HCC71T COSM1616247 c.382A>G p.S128G Substitution - Missense 22:20375553-20375553 - TCGA-EE-A2A2-06 COSM3307884 c.429G>A p.Q143Q Substitution - coding silent 22:20375506-20375506 - 8030353 COSM3390106 c.29A>T p.Q10L Substitution - Missense 22:20390562-20390562 - WSU-HN6 COSM4135162 c.1019A>G p.N340S Substitution - Missense 22:20364235-20364235 - WSU-HN6 COSM4135163 c.974A>G p.N325S Substitution - Missense 22:20364235-20364235 - 0080_CRUK_PC_0080_T1_DNA COSM4419380 c.176G>T p.G59V Substitution - Missense 22:20378738-20378738 - BN44 COSM1616246 c.525+5G>A p.? Unknown 22:20370115-20370115 - BN44T COSM1616246 c.525+5G>A p.? Unknown 22:20370115-20370115 - WSU-HN30 COSM4135162 c.1019A>G p.N340S Substitution - Missense 22:20364235-20364235 - TCGA-D3-A5GU-06 COSM3552270 c.299C>T p.P100L Substitution - Missense 22:20375591-20375591 - CN-AML-08-T COSM4135162 c.1019A>G p.N340S Substitution - Missense 22:20364235-20364235 - J36_T COSM3964106 c.339C>G p.S113R Substitution - Missense 22:20375596-20375596 - TCGA-D1-A16X-01 COSM1032221 c.1044C>T p.C348C Substitution - coding silent 22:20364210-20364210 - Sample_1 COSM4135164 c.340G>A p.V114I Substitution - Missense 22:20375595-20375595 - TCGA-EE-A3JD-06 COSM4396828 c.371A>T p.K124M Substitution - Missense 22:20375564-20375564 - TCGA-D3-A1Q3-06 COSM3552267 c.729G>A p.L243L Substitution - coding silent 22:20366729-20366729 - LP6005409-DNA_A01 COSM5952029 c.95T>C p.L32P Substitution - Missense 22:20390496-20390496 - LP6005409-DNA_A01 COSM5951989 c.95+9G>C p.? Unknown 22:20390487-20390487 - BN44 COSM3708146 c.480+5G>A p.? Unknown 22:20370115-20370115 - SCC-15 COSM4135163 c.974A>G p.N325S Substitution - Missense 22:20364235-20364235 - CAL33 COSM4135162 c.1019A>G p.N340S Substitution - Missense 22:20364235-20364235 - pfg008T COSM4746765 c.597delT p.F199fs*8 Deletion - Frameshift 22:20369459-20369459 - WSU-HN30 COSM4135163 c.974A>G p.N325S Substitution - Missense 22:20364235-20364235 - I2L-P7-Tumor-Organoid COSM4746765 c.597delT p.F199fs*8 Deletion - Frameshift 22:20369459-20369459 - PTC-10C COSM4135165 c.295G>A p.V99I Substitution - Missense 22:20375595-20375595 - T3436 COSM4739840 c.633C>T p.D211D Substitution - coding silent 22:20367638-20367638 - SCC-9 COSM4135162 c.1019A>G p.N340S Substitution - Missense 22:20364235-20364235 - BN44T COSM3708146 c.480+5G>A p.? Unknown 22:20370115-20370115 - T3436 COSM4739839 c.678C>T p.D226D Substitution - coding silent 22:20367638-20367638 - UM-SCC-2 COSM4135162 c.1019A>G p.N340S Substitution - Missense 22:20364235-20364235 - WSU-HN13 COSM4135162 c.1019A>G p.N340S Substitution - Missense 22:20364235-20364235 - SCC-25 COSM4135163 c.974A>G p.N325S Substitution - Missense 22:20364235-20364235 - UM-SCC-11B COSM4598154 c.355T>C p.W119R Substitution - Missense 22:20375535-20375535 - 5T COSM110267 c.1031G>A p.G344E Substitution - Missense 22:20364223-20364223 - PT50 COSM5937909 c.497C>T p.A166V Substitution - Missense 22:20369559-20369559 - TCGA-AP-A0LM-01 COSM1032224 c.629G>A p.R210Q Substitution - Missense 22:20369472-20369472 - TCGA-BJ-A28S-01 COSM3371861 c.463A>G p.I155V Substitution - Missense 22:20370137-20370137 - BHY COSM4135163 c.974A>G p.N325S Substitution - Missense 22:20364235-20364235 - Detroit_562 COSM4135163 c.974A>G p.N325S Substitution - Missense 22:20364235-20364235 - TCGA-B5-A0K6-01 COSM1032220 c.1116C>T p.H372H Substitution - coding silent 22:20363627-20363627 - UM-SCC-17B COSM4135162 c.1019A>G p.N340S Substitution - Missense 22:20364235-20364235 - BHY COSM4135164 c.340G>A p.V114I Substitution - Missense 22:20375595-20375595 - TCGA-EE-A3JD-06 COSM4396829 c.326A>T p.K109M Substitution - Missense 22:20375564-20375564 - TCGA-76-4926-01 COSM3405520 c.651C>A p.F217L Substitution - Missense 22:20367620-20367620 - UPCI:SCC090 COSM4135163 c.974A>G p.N325S Substitution - Missense 22:20364235-20364235 - TCGA-D1-A16X-01 COSM4865808 c.999C>T p.C333C Substitution - coding silent 22:20364210-20364210 - CAL33 COSM4135163 c.974A>G p.N325S Substitution - Missense 22:20364235-20364235 - TCGA-AX-A05Z-01 COSM4863385 c.726C>A p.V242V Substitution - coding silent 22:20366732-20366732 - SCC-9 COSM4597521 c.583G>A p.D195N Substitution - Missense 22:20369518-20369518 - TCGA-BJ-A28S-01 COSM3371860 c.508A>G p.I170V Substitution - Missense 22:20370137-20370137 - PTC-10C COSM4135164 c.340G>A p.V114I Substitution - Missense 22:20375595-20375595 - Detroit_562 COSM4135162 c.1019A>G p.N340S Substitution - Missense 22:20364235-20364235 - TCGA-D8-A1XL-01 COSM1484081 c.915G>T p.E305D Substitution - Missense 22:20366588-20366588 - AOCS-161-1-9 COSM4137337 c.480+8C>A p.? Unknown 22:20370112-20370112 - sysucc-771T COSM4135165 c.295G>A p.V99I Substitution - Missense 22:20375595-20375595 - TCGA-AX-A05Z-01 COSM1032222 c.771C>A p.V257V Substitution - coding silent 22:20366732-20366732 - PTC-7C COSM4135163 c.974A>G p.N325S Substitution - Missense 22:20364235-20364235 - TCGA-GM-A3NY-01 COSM3842215 c.514A>G p.M172V Substitution - Missense 22:20369542-20369542 - BHY COSM4135165 c.295G>A p.V99I Substitution - Missense 22:20375595-20375595 - BHY COSM4135162 c.1019A>G p.N340S Substitution - Missense 22:20364235-20364235 - PTC-7C COSM4135162 c.1019A>G p.N340S Substitution - Missense 22:20364235-20364235 - I2L-P7-Tumor-Organoid COSM4746764 c.642delT p.F214fs*8 Deletion - Frameshift 22:20369459-20369459 - PT50 COSM5937908 c.542C>T p.A181V Substitution - Missense 22:20369559-20369559 - TCGA-76-4926-01 COSM3405519 c.696C>A p.F232L Substitution - Missense 22:20367620-20367620 -

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - IntronicDeletion . c.401-2491delT 22 20726980 CM C T Missense p.V342M c.1024G>A 22 20717964 CM G A CdsStopSNV . c.1071C>T 22 20717917 UCEC GA - IntronicDeletion . c.724-45_724-44delTC 22 20721068 ESCA G A Missense p.S52L c.155C>T 22 20731588 CM G A Synonymous p.F79F c.237C>T 22 20731462 CM G A Synonymous p.N149N c.447C>T 22 20724443 RCCC