Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR 2 23608570 23608570 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BOCA-FR 2 23625377 23625377 single base substitution A T intron_variant BOCA-FR 2 23746819 23746819 single base substitution A T intron_variant BOCA-FR 2 23814845 23814845 single base substitution G T intron_variant BRCA-EU 2 23603276 23603276 deletion of <=200bp C - upstream_gene_variant BRCA-EU 2 23603390 23603390 single base substitution T A upstream_gene_variant BRCA-EU 2 23606820 23606820 deletion of <=200bp G - upstream_gene_variant BRCA-EU 2 23610719 23610719 single base substitution T A intron_variant BRCA-EU 2 23611181 23611181 single base substitution A G intron_variant BRCA-EU 2 23611413 23611413 deletion of <=200bp C - intron_variant BRCA-EU 2 23611626 23611626 single base substitution G A intron_variant BRCA-EU 2 23612903 23612903 single base substitution C A intron_variant BRCA-EU 2 23616633 23616633 single base substitution G C intron_variant BRCA-EU 2 23617629 23617629 single base substitution A G intron_variant BRCA-EU 2 23617858 23617858 single base substitution G T intron_variant BRCA-EU 2 23619385 23619385 single base substitution A T intron_variant BRCA-EU 2 23620001 23620001 single base substitution G T intron_variant BRCA-EU 2 23620094 23620094 single base substitution G A intron_variant BRCA-EU 2 23620291 23620291 single base substitution A C intron_variant BRCA-EU 2 23620533 23620533 single base substitution G T intron_variant BRCA-EU 2 23620803 23620803 single base substitution G A intron_variant BRCA-EU 2 23621005 23621005 single base substitution G A intron_variant BRCA-EU 2 23622241 23622241 single base substitution G A intron_variant BRCA-EU 2 23622552 23622552 single base substitution G A intron_variant BRCA-EU 2 23622668 23622668 single base substitution G A intron_variant BRCA-EU 2 23624141 23624141 single base substitution G A intron_variant BRCA-EU 2 23625007 23625007 single base substitution G C intron_variant BRCA-EU 2 23625467 23625467 single base substitution C T intron_variant BRCA-EU 2 23625658 23625658 single base substitution G A intron_variant BRCA-EU 2 23627886 23627886 single base substitution G A intron_variant BRCA-EU 2 23628133 23628133 deletion of <=200bp G - intron_variant BRCA-EU 2 23630022 23630022 single base substitution T C intron_variant BRCA-EU 2 23630727 23630727 single base substitution C A intron_variant BRCA-EU 2 23631688 23631688 single base substitution A G intron_variant BRCA-EU 2 23632638 23632638 single base substitution G C intron_variant BRCA-EU 2 23633028 23633028 single base substitution G A intron_variant BRCA-EU 2 23633157 23633157 single base substitution A C intron_variant BRCA-EU 2 23633245 23633245 single base substitution C G intron_variant BRCA-EU 2 23633603 23633603 insertion of <=200bp - G intron_variant BRCA-EU 2 23634079 23634079 single base substitution G C intron_variant BRCA-EU 2 23634133 23634133 single base substitution G A intron_variant BRCA-EU 2 23635272 23635272 single base substitution G A intron_variant BRCA-EU 2 23636245 23636245 single base substitution G T intron_variant BRCA-EU 2 23636779 23636786 deletion of <=200bp GACCCGGG - intron_variant BRCA-EU 2 23636854 23636854 single base substitution C A intron_variant BRCA-EU 2 23637236 23637236 single base substitution G A intron_variant BRCA-EU 2 23639030 23639030 single base substitution C G intron_variant BRCA-EU 2 23640674 23640674 single base substitution G A intron_variant BRCA-EU 2 23642064 23642064 single base substitution A G intron_variant BRCA-EU 2 23642614 23642614 single base substitution G A intron_variant BRCA-EU 2 23642677 23642677 single base substitution C T intron_variant BRCA-EU 2 23642750 23642750 single base substitution T G intron_variant BRCA-EU 2 23643336 23643336 single base substitution G A intron_variant BRCA-EU 2 23643734 23643734 single base substitution C A intron_variant BRCA-EU 2 23643859 23643859 single base substitution C T intron_variant BRCA-EU 2 23645768 23645768 single base substitution C T intron_variant BRCA-EU 2 23645997 23645997 single base substitution C G intron_variant BRCA-EU 2 23646794 23646794 single base substitution T A intron_variant BRCA-EU 2 23648487 23648487 single base substitution A G intron_variant BRCA-EU 2 23648991 23648991 single base substitution G C intron_variant BRCA-EU 2 23649021 23649021 single base substitution C T intron_variant BRCA-EU 2 23649025 23649025 single base substitution G T intron_variant BRCA-EU 2 23649209 23649209 single base substitution T A intron_variant BRCA-EU 2 23650187 23650187 single base substitution C A intron_variant BRCA-EU 2 23651274 23651274 single base substitution C A intron_variant BRCA-EU 2 23651600 23651600 single base substitution G A intron_variant BRCA-EU 2 23652431 23652431 single base substitution C G intron_variant BRCA-EU 2 23652708 23652708 single base substitution C T intron_variant BRCA-EU 2 23653291 23653291 single base substitution G C intron_variant BRCA-EU 2 23653599 23653599 single base substitution G T intron_variant BRCA-EU 2 23654534 23654534 single base substitution C T intron_variant BRCA-EU 2 23655441 23655441 single base substitution G T intron_variant BRCA-EU 2 23655797 23655797 single base substitution G T intron_variant BRCA-EU 2 23656039 23656039 single base substitution G A intron_variant BRCA-EU 2 23656636 23656636 single base substitution T A intron_variant BRCA-EU 2 23656668 23656668 single base substitution T C intron_variant BRCA-EU 2 23657498 23657498 single base substitution G A intron_variant BRCA-EU 2 23657871 23657871 single base substitution G C intron_variant BRCA-EU 2 23658058 23658058 single base substitution G A intron_variant BRCA-EU 2 23659547 23659547 single base substitution G A intron_variant BRCA-EU 2 23660053 23660053 deletion of <=200bp A - intron_variant BRCA-EU 2 23660573 23660573 single base substitution G T intron_variant BRCA-EU 2 23660712 23660712 single base substitution G A intron_variant BRCA-EU 2 23660808 23660808 single base substitution C G intron_variant BRCA-EU 2 23661530 23661530 single base substitution G A intron_variant BRCA-EU 2 23662160 23662160 single base substitution G T intron_variant BRCA-EU 2 23662229 23662229 single base substitution G C intron_variant BRCA-EU 2 23662529 23662529 single base substitution G A intron_variant BRCA-EU 2 23664131 23664131 single base substitution A T intron_variant BRCA-EU 2 23665450 23665450 single base substitution C A intron_variant BRCA-EU 2 23665920 23665920 single base substitution C T intron_variant BRCA-EU 2 23666518 23666518 single base substitution A T intron_variant BRCA-EU 2 23666673 23666673 single base substitution G T intron_variant BRCA-EU 2 23666812 23666812 single base substitution G A intron_variant BRCA-EU 2 23666874 23666874 single base substitution A G intron_variant BRCA-EU 2 23667173 23667173 insertion of <=200bp - TA intron_variant BRCA-EU 2 23667395 23667395 single base substitution C T intron_variant BRCA-EU 2 23667474 23667474 single base substitution G T intron_variant BRCA-EU 2 23668013 23668013 single base substitution C A intron_variant BRCA-EU 2 23668147 23668147 insertion of <=200bp - T intron_variant BRCA-EU 2 23668357 23668357 single base substitution G C intron_variant BRCA-EU 2 23668537 23668537 single base substitution A C intron_variant BRCA-EU 2 23668786 23668786 single base substitution T C intron_variant BRCA-EU 2 23669664 23669664 single base substitution C G intron_variant BRCA-EU 2 23669753 23669753 single base substitution G A intron_variant BRCA-EU 2 23670088 23670088 single base substitution G A intron_variant BRCA-EU 2 23670097 23670097 single base substitution G T intron_variant BRCA-EU 2 23670612 23670612 single base substitution G A intron_variant BRCA-EU 2 23672079 23672079 single base substitution C T intron_variant BRCA-EU 2 23672122 23672122 single base substitution T G intron_variant BRCA-EU 2 23672338 23672338 single base substitution G A intron_variant BRCA-EU 2 23672538 23672538 single base substitution C G intron_variant BRCA-EU 2 23672977 23672977 single base substitution A G intron_variant BRCA-EU 2 23673148 23673148 single base substitution G A intron_variant BRCA-EU 2 23673603 23673603 single base substitution C T intron_variant BRCA-EU 2 23674945 23674945 single base substitution C T intron_variant BRCA-EU 2 23675358 23675358 single base substitution C A intron_variant BRCA-EU 2 23675660 23675660 single base substitution C A intron_variant BRCA-EU 2 23675908 23675908 single base substitution C T intron_variant BRCA-EU 2 23676033 23676033 single base substitution C G intron_variant BRCA-EU 2 23677103 23677103 single base substitution G A intron_variant BRCA-EU 2 23677121 23677121 single base substitution C G intron_variant BRCA-EU 2 23678825 23678825 single base substitution A C intron_variant BRCA-EU 2 23680058 23680058 single base substitution C T intron_variant BRCA-EU 2 23680897 23680897 insertion of <=200bp - A intron_variant BRCA-EU 2 23681011 23681011 single base substitution G C intron_variant BRCA-EU 2 23681507 23681507 single base substitution A C intron_variant BRCA-EU 2 23682271 23682271 single base substitution G A intron_variant BRCA-EU 2 23682483 23682483 single base substitution C A intron_variant BRCA-EU 2 23683537 23683537 single base substitution G T intron_variant BRCA-EU 2 23683579 23683579 single base substitution G C intron_variant BRCA-EU 2 23684376 23684376 single base substitution T C intron_variant BRCA-EU 2 23685107 23685107 single base substitution G A intron_variant BRCA-EU 2 23685327 23685327 single base substitution C T intron_variant BRCA-EU 2 23686329 23686329 single base substitution G A intron_variant BRCA-EU 2 23687799 23687799 single base substitution T A intron_variant BRCA-EU 2 23688549 23688549 single base substitution A C intron_variant BRCA-EU 2 23688957 23688957 insertion of <=200bp - A intron_variant BRCA-EU 2 23692484 23692484 single base substitution T A intron_variant BRCA-EU 2 23692770 23692770 single base substitution C T intron_variant BRCA-EU 2 23693518 23693518 single base substitution G C intron_variant BRCA-EU 2 23693934 23693934 single base substitution C A intron_variant BRCA-EU 2 23693960 23693960 single base substitution G A intron_variant BRCA-EU 2 23694717 23694717 single base substitution C G intron_variant BRCA-EU 2 23695272 23695272 single base substitution G A intron_variant BRCA-EU 2 23696032 23696032 single base substitution C T intron_variant BRCA-EU 2 23697062 23697062 single base substitution T A intron_variant BRCA-EU 2 23697075 23697075 single base substitution T G intron_variant BRCA-EU 2 23697402 23697402 single base substitution C T intron_variant BRCA-EU 2 23697403 23697403 single base substitution G A intron_variant BRCA-EU 2 23698085 23698085 single base substitution C T intron_variant BRCA-EU 2 23698199 23698199 single base substitution G A intron_variant BRCA-EU 2 23698993 23698993 single base substitution C A intron_variant BRCA-EU 2 23700331 23700331 single base substitution T A intron_variant BRCA-EU 2 23701425 23701425 single base substitution G A intron_variant BRCA-EU 2 23701676 23701676 single base substitution C T intron_variant BRCA-EU 2 23702632 23702632 single base substitution C G intron_variant BRCA-EU 2 23702873 23702885 deletion of <=200bp TAGTCCCAAATCT - intron_variant BRCA-EU 2 23705274 23705274 single base substitution G T intron_variant BRCA-EU 2 23705761 23705761 single base substitution C T intron_variant BRCA-EU 2 23706462 23706462 single base substitution G A intron_variant BRCA-EU 2 23706591 23706591 single base substitution T G intron_variant BRCA-EU 2 23706644 23706644 single base substitution G T intron_variant BRCA-EU 2 23706726 23706726 single base substitution T G intron_variant BRCA-EU 2 23709660 23709660 single base substitution C T intron_variant BRCA-EU 2 23710532 23710532 single base substitution T A intron_variant BRCA-EU 2 23710722 23710722 single base substitution C G intron_variant BRCA-EU 2 23711813 23711813 single base substitution G A intron_variant BRCA-EU 2 23713075 23713075 single base substitution C A intron_variant BRCA-EU 2 23713113 23713113 single base substitution G C intron_variant BRCA-EU 2 23713472 23713472 deletion of <=200bp A - intron_variant BRCA-EU 2 23713642 23713642 single base substitution G T intron_variant BRCA-EU 2 23715860 23715860 single base substitution C G intron_variant BRCA-EU 2 23716130 23716130 single base substitution G A intron_variant BRCA-EU 2 23716447 23716447 single base substitution C G intron_variant BRCA-EU 2 23717536 23717536 single base substitution C A intron_variant BRCA-EU 2 23718193 23718193 single base substitution G T intron_variant BRCA-EU 2 23722104 23722108 deletion of <=200bp CCTGC - intron_variant BRCA-EU 2 23722441 23722441 single base substitution T G intron_variant BRCA-EU 2 23722754 23722754 single base substitution G A intron_variant BRCA-EU 2 23723230 23723230 deletion of <=200bp T - intron_variant BRCA-EU 2 23723561 23723561 deletion of <=200bp A - intron_variant BRCA-EU 2 23724872 23724872 single base substitution C A intron_variant BRCA-EU 2 23725377 23725377 single base substitution T A intron_variant BRCA-EU 2 23725610 23725610 single base substitution T C intron_variant BRCA-EU 2 23726288 23726288 single base substitution G A intron_variant BRCA-EU 2 23726386 23726386 single base substitution G A intron_variant BRCA-EU 2 23726720 23726720 single base substitution G C intron_variant BRCA-EU 2 23726833 23726833 single base substitution T A intron_variant BRCA-EU 2 23726891 23726891 single base substitution A G intron_variant BRCA-EU 2 23727076 23727076 insertion of <=200bp - A intron_variant BRCA-EU 2 23727274 23727274 single base substitution A C intron_variant BRCA-EU 2 23727918 23727918 single base substitution C G intron_variant BRCA-EU 2 23729727 23729727 single base substitution T A intron_variant BRCA-EU 2 23729814 23729814 single base substitution G C intron_variant BRCA-EU 2 23730316 23730316 single base substitution C T intron_variant BRCA-EU 2 23730887 23730887 single base substitution C T intron_variant BRCA-EU 2 23731319 23731319 single base substitution G T intron_variant BRCA-EU 2 23733780 23733780 single base substitution C T intron_variant BRCA-EU 2 23734011 23734011 single base substitution A T intron_variant BRCA-EU 2 23734038 23734038 single base substitution G A intron_variant BRCA-EU 2 23734193 23734193 single base substitution G A intron_variant BRCA-EU 2 23734638 23734638 single base substitution G C intron_variant BRCA-EU 2 23735013 23735013 single base substitution G A intron_variant BRCA-EU 2 23735701 23735701 single base substitution G T intron_variant BRCA-EU 2 23737673 23737673 single base substitution C T intron_variant BRCA-EU 2 23737704 23737704 single base substitution G T intron_variant BRCA-EU 2 23741110 23741110 single base substitution G A intron_variant BRCA-EU 2 23743369 23743369 single base substitution G C intron_variant BRCA-EU 2 23744060 23744060 single base substitution G C intron_variant BRCA-EU 2 23744392 23744392 single base substitution C T intron_variant BRCA-EU 2 23745885 23745885 single base substitution C T intron_variant BRCA-EU 2 23745887 23745887 single base substitution C A intron_variant BRCA-EU 2 23745953 23745953 single base substitution C T intron_variant BRCA-EU 2 23745955 23745955 single base substitution G C intron_variant BRCA-EU 2 23746777 23746777 single base substitution C G intron_variant BRCA-EU 2 23747088 23747088 single base substitution A G intron_variant BRCA-EU 2 23747480 23747480 single base substitution G T intron_variant BRCA-EU 2 23749972 23749972 single base substitution C T intron_variant BRCA-EU 2 23750560 23750560 single base substitution C T intron_variant BRCA-EU 2 23750560 23750560 single base substitution C T upstream_gene_variant BRCA-EU 2 23751049 23751049 single base substitution G C intron_variant BRCA-EU 2 23751049 23751049 single base substitution G C upstream_gene_variant BRCA-EU 2 23753086 23753086 single base substitution G A intron_variant BRCA-EU 2 23753086 23753086 single base substitution G A upstream_gene_variant BRCA-EU 2 23753212 23753212 single base substitution C T intron_variant BRCA-EU 2 23753212 23753212 single base substitution C T upstream_gene_variant BRCA-EU 2 23753421 23753421 single base substitution T A intron_variant BRCA-EU 2 23753421 23753421 single base substitution T A upstream_gene_variant BRCA-EU 2 23755323 23755323 single base substitution A G intron_variant BRCA-EU 2 23755323 23755323 single base substitution A G upstream_gene_variant BRCA-EU 2 23755384 23755384 single base substitution A G intron_variant BRCA-EU 2 23755384 23755384 single base substitution A G upstream_gene_variant BRCA-EU 2 23755628 23755628 single base substitution G T intron_variant BRCA-EU 2 23756167 23756167 single base substitution G A intron_variant BRCA-EU 2 23756240 23756240 single base substitution G A intron_variant BRCA-EU 2 23756616 23756616 single base substitution C G intron_variant BRCA-EU 2 23756944 23756944 single base substitution G A intron_variant BRCA-EU 2 23757010 23757010 single base substitution G A intron_variant BRCA-EU 2 23757395 23757395 single base substitution C T intron_variant BRCA-EU 2 23757609 23757609 single base substitution G C intron_variant BRCA-EU 2 23757649 23757649 single base substitution G T intron_variant BRCA-EU 2 23758695 23758695 single base substitution G T intron_variant BRCA-EU 2 23759631 23759631 single base substitution G C intron_variant BRCA-EU 2 23761799 23761799 single base substitution G A intron_variant BRCA-EU 2 23762272 23762272 single base substitution G T intron_variant BRCA-EU 2 23763280 23763280 single base substitution T C intron_variant BRCA-EU 2 23763626 23763626 single base substitution C G intron_variant BRCA-EU 2 23766032 23766032 single base substitution G T intron_variant BRCA-EU 2 23766638 23766638 deletion of <=200bp T - intron_variant BRCA-EU 2 23767827 23767827 single base substitution G T intron_variant BRCA-EU 2 23768201 23768201 single base substitution G A intron_variant BRCA-EU 2 23768728 23768728 single base substitution G C intron_variant BRCA-EU 2 23769042 23769042 single base substitution G T intron_variant BRCA-EU 2 23771944 23771944 single base substitution C T intron_variant BRCA-EU 2 23771946 23771946 single base substitution C A intron_variant BRCA-EU 2 23773767 23773767 single base substitution G C intron_variant BRCA-EU 2 23774574 23774574 single base substitution G C intron_variant BRCA-EU 2 23775083 23775083 single base substitution G A intron_variant BRCA-EU 2 23775758 23775758 single base substitution T G intron_variant BRCA-EU 2 23776005 23776005 single base substitution C T intron_variant BRCA-EU 2 23776467 23776467 single base substitution G T intron_variant BRCA-EU 2 23776578 23776578 single base substitution C A intron_variant BRCA-EU 2 23776764 23776764 single base substitution T C intron_variant BRCA-EU 2 23777004 23777004 single base substitution C G intron_variant BRCA-EU 2 23777451 23777451 single base substitution T G intron_variant BRCA-EU 2 23778120 23778120 single base substitution C G intron_variant BRCA-EU 2 23780384 23780384 single base substitution G A intron_variant BRCA-EU 2 23781366 23781366 single base substitution G T intron_variant BRCA-EU 2 23781447 23781447 insertion of <=200bp - T intron_variant BRCA-EU 2 23782208 23782208 single base substitution T A intron_variant BRCA-EU 2 23783207 23783207 single base substitution C T intron_variant BRCA-EU 2 23784109 23784109 single base substitution G A intron_variant BRCA-EU 2 23784265 23784265 single base substitution G T intron_variant BRCA-EU 2 23784542 23784542 single base substitution C A intron_variant BRCA-EU 2 23785181 23785181 single base substitution G T exon_variant BRCA-EU 2 23785181 23785181 single base substitution G T missense_variant A39S 115G>T BRCA-EU 2 23785352 23785352 single base substitution G T splice_donor_variant BRCA-EU 2 23786095 23786095 single base substitution A G intron_variant BRCA-EU 2 23786192 23786192 single base substitution C A intron_variant BRCA-EU 2 23787776 23787776 single base substitution A G intron_variant BRCA-EU 2 23787993 23787993 single base substitution G A intron_variant BRCA-EU 2 23788264 23788264 single base substitution A C intron_variant BRCA-EU 2 23788378 23788378 single base substitution G C intron_variant BRCA-EU 2 23788401 23788401 single base substitution G A intron_variant BRCA-EU 2 23790410 23790410 single base substitution G A intron_variant BRCA-EU 2 23790811 23790811 single base substitution G C intron_variant BRCA-EU 2 23793974 23793974 single base substitution G C intron_variant BRCA-EU 2 23795139 23795139 single base substitution C T intron_variant BRCA-EU 2 23795206 23795206 single base substitution G A intron_variant BRCA-EU 2 23795223 23795223 deletion of <=200bp C - intron_variant BRCA-EU 2 23795589 23795589 single base substitution G C intron_variant BRCA-EU 2 23796445 23796445 single base substitution G A intron_variant BRCA-EU 2 23797790 23797790 single base substitution G T intron_variant BRCA-EU 2 23800078 23800078 single base substitution G C intron_variant BRCA-EU 2 23800342 23800342 single base substitution C T intron_variant BRCA-EU 2 23800491 23800491 single base substitution A G intron_variant BRCA-EU 2 23800829 23800829 single base substitution C G intron_variant BRCA-EU 2 23800910 23800910 single base substitution G C intron_variant BRCA-EU 2 23802013 23802013 single base substitution A G intron_variant BRCA-EU 2 23802096 23802096 single base substitution C A intron_variant BRCA-EU 2 23802419 23802419 single base substitution G C intron_variant BRCA-EU 2 23802788 23802788 single base substitution C T intron_variant BRCA-EU 2 23803894 23803894 single base substitution C T intron_variant BRCA-EU 2 23804599 23804599 single base substitution G A intron_variant BRCA-EU 2 23805240 23805242 deletion of <=200bp TAT - intron_variant BRCA-EU 2 23806110 23806110 single base substitution A C intron_variant BRCA-EU 2 23807804 23807804 single base substitution G A intron_variant BRCA-EU 2 23808582 23808582 single base substitution G A intron_variant BRCA-EU 2 23808954 23808954 single base substitution C G intron_variant BRCA-EU 2 23810437 23810437 single base substitution A C intron_variant BRCA-EU 2 23811590 23811590 single base substitution A C intron_variant BRCA-EU 2 23814092 23814092 single base substitution G A intron_variant BRCA-EU 2 23816178 23816178 single base substitution G T intron_variant BRCA-EU 2 23816401 23816401 single base substitution G A intron_variant BRCA-EU 2 23816504 23816504 single base substitution G A intron_variant BRCA-EU 2 23817704 23817704 single base substitution G T intron_variant BRCA-EU 2 23821139 23821139 single base substitution G A intron_variant BRCA-EU 2 23822143 23822143 single base substitution C T intron_variant BRCA-EU 2 23822230 23822230 single base substitution T C intron_variant BRCA-EU 2 23822591 23822591 single base substitution C T intron_variant BRCA-EU 2 23824341 23824341 single base substitution A T intron_variant BRCA-EU 2 23824860 23824860 single base substitution C T intron_variant BRCA-EU 2 23825064 23825064 single base substitution C T intron_variant BRCA-EU 2 23825265 23825265 single base substitution C G intron_variant BRCA-EU 2 23826102 23826102 single base substitution G C intron_variant BRCA-EU 2 23826826 23826826 single base substitution C T intron_variant BRCA-EU 2 23827539 23827539 single base substitution A C intron_variant BRCA-EU 2 23828588 23828588 single base substitution T C intron_variant BRCA-EU 2 23829499 23829499 single base substitution G A intron_variant BRCA-EU 2 23830273 23830273 single base substitution G A intron_variant BRCA-EU 2 23830547 23830547 single base substitution C A intron_variant BRCA-EU 2 23831203 23831203 single base substitution C T intron_variant BRCA-EU 2 23831205 23831205 single base substitution C T intron_variant BRCA-EU 2 23831434 23831434 deletion of <=200bp T - intron_variant BRCA-EU 2 23831612 23831612 single base substitution C A intron_variant BRCA-EU 2 23832055 23832055 single base substitution T C intron_variant BRCA-EU 2 23834962 23834962 single base substitution G A intron_variant BRCA-EU 2 23836118 23836118 single base substitution G A intron_variant BRCA-EU 2 23836590 23836590 single base substitution C T intron_variant BRCA-EU 2 23837236 23837236 single base substitution A G intron_variant BRCA-EU 2 23837548 23837548 single base substitution G T intron_variant BRCA-EU 2 23837601 23837601 single base substitution G A intron_variant BRCA-EU 2 23837689 23837689 single base substitution G A intron_variant BRCA-EU 2 23837955 23837955 single base substitution C T intron_variant BRCA-EU 2 23838102 23838102 single base substitution G C intron_variant BRCA-EU 2 23838953 23838953 single base substitution G C intron_variant BRCA-EU 2 23839497 23839497 single base substitution C T intron_variant BRCA-EU 2 23839582 23839582 single base substitution G C intron_variant BRCA-EU 2 23839635 23839635 single base substitution G A intron_variant BRCA-EU 2 23839754 23839754 single base substitution G A intron_variant BRCA-EU 2 23840221 23840221 single base substitution C T intron_variant BRCA-EU 2 23840254 23840254 single base substitution C T intron_variant BRCA-EU 2 23841317 23841317 deletion of <=200bp C - intron_variant BRCA-EU 2 23842033 23842033 single base substitution A G intron_variant BRCA-EU 2 23842854 23842854 single base substitution G A intron_variant BRCA-EU 2 23843097 23843097 single base substitution G A intron_variant BRCA-EU 2 23843242 23843242 single base substitution C T intron_variant BRCA-EU 2 23843492 23843492 single base substitution C G intron_variant BRCA-EU 2 23844461 23844461 single base substitution C A intron_variant BRCA-EU 2 23845870 23845870 single base substitution G C intron_variant BRCA-EU 2 23846991 23846991 single base substitution G A intron_variant BRCA-EU 2 23848242 23848242 single base substitution G A intron_variant BRCA-EU 2 23850314 23850314 single base substitution C T intron_variant BRCA-EU 2 23851099 23851099 single base substitution G C intron_variant BRCA-EU 2 23851987 23851987 single base substitution C T intron_variant BRCA-EU 2 23857778 23857778 single base substitution A G intron_variant BRCA-EU 2 23857982 23857982 single base substitution G C intron_variant BRCA-EU 2 23858402 23858402 single base substitution G A intron_variant BRCA-EU 2 23859518 23859518 single base substitution C T intron_variant BRCA-EU 2 23859674 23859674 single base substitution T A intron_variant BRCA-EU 2 23859709 23859709 single base substitution C T intron_variant BRCA-EU 2 23860578 23860578 single base substitution C A intron_variant BRCA-EU 2 23860578 23860578 single base substitution C A upstream_gene_variant BRCA-EU 2 23861486 23861486 single base substitution G T intron_variant BRCA-EU 2 23861486 23861486 single base substitution G T upstream_gene_variant BRCA-EU 2 23861863 23861863 single base substitution G A intron_variant BRCA-EU 2 23861863 23861863 single base substitution G A upstream_gene_variant BRCA-EU 2 23863641 23863641 single base substitution C G intron_variant BRCA-EU 2 23863641 23863641 single base substitution C G upstream_gene_variant BRCA-EU 2 23864190 23864190 single base substitution C A intron_variant BRCA-EU 2 23864190 23864190 single base substitution C A upstream_gene_variant BRCA-EU 2 23864520 23864520 single base substitution A G intron_variant BRCA-EU 2 23864520 23864520 single base substitution A G upstream_gene_variant BRCA-EU 2 23865082 23865082 single base substitution C T intron_variant BRCA-EU 2 23865082 23865082 single base substitution C T upstream_gene_variant BRCA-EU 2 23865093 23865093 single base substitution C T intron_variant BRCA-EU 2 23865093 23865093 single base substitution C T upstream_gene_variant BRCA-EU 2 23865216 23865216 single base substitution C A exon_variant BRCA-EU 2 23865216 23865216 single base substitution C A missense_variant P146T 436C>A BRCA-EU 2 23865216 23865216 single base substitution C A upstream_gene_variant BRCA-EU 2 23865904 23865904 single base substitution G A exon_variant BRCA-EU 2 23865904 23865904 single base substitution G A intron_variant BRCA-EU 2 23866775 23866775 single base substitution C A exon_variant BRCA-EU 2 23866775 23866775 single base substitution C A intron_variant BRCA-EU 2 23868400 23868400 single base substitution C T downstream_gene_variant BRCA-EU 2 23868400 23868400 single base substitution C T intron_variant BRCA-EU 2 23868708 23868708 single base substitution G A downstream_gene_variant BRCA-EU 2 23868708 23868708 single base substitution G A intron_variant BRCA-EU 2 23869752 23869752 single base substitution C G downstream_gene_variant BRCA-EU 2 23869752 23869752 single base substitution C G intron_variant BRCA-EU 2 23870890 23870890 single base substitution T A downstream_gene_variant BRCA-EU 2 23870890 23870890 single base substitution T A intron_variant BRCA-EU 2 23873457 23873457 single base substitution C G intron_variant BRCA-EU 2 23874616 23874616 single base substitution A G intron_variant BRCA-EU 2 23874710 23874710 single base substitution C G intron_variant BRCA-EU 2 23874789 23874789 single base substitution G A intron_variant BRCA-EU 2 23874901 23874901 single base substitution C T intron_variant BRCA-EU 2 23877685 23877685 single base substitution A G intron_variant BRCA-EU 2 23877900 23877900 single base substitution G A intron_variant BRCA-EU 2 23878193 23878193 single base substitution G T intron_variant BRCA-EU 2 23879306 23879306 single base substitution G T intron_variant BRCA-EU 2 23879393 23879393 single base substitution G T intron_variant BRCA-EU 2 23880145 23880145 single base substitution C T intron_variant BRCA-EU 2 23882780 23882780 single base substitution C T intron_variant BRCA-EU 2 23883306 23883306 single base substitution C T intron_variant BRCA-EU 2 23883589 23883589 single base substitution C A intron_variant BRCA-EU 2 23883913 23883913 single base substitution G C intron_variant BRCA-EU 2 23883935 23883935 single base substitution G A intron_variant BRCA-EU 2 23884044 23884044 single base substitution C G intron_variant BRCA-EU 2 23884278 23884278 single base substitution C A intron_variant BRCA-EU 2 23885435 23885435 single base substitution C T intron_variant BRCA-EU 2 23886032 23886032 single base substitution C G intron_variant BRCA-EU 2 23887479 23887479 single base substitution C T intron_variant BRCA-EU 2 23888489 23888489 single base substitution G A intron_variant BRCA-EU 2 23888671 23888671 single base substitution C T intron_variant BRCA-EU 2 23890323 23890323 single base substitution G A intron_variant BRCA-EU 2 23890493 23890493 single base substitution C G intron_variant BRCA-EU 2 23890990 23890990 single base substitution C A intron_variant BRCA-EU 2 23892521 23892521 single base substitution C T intron_variant BRCA-EU 2 23894140 23894140 single base substitution G A intron_variant BRCA-EU 2 23894176 23894176 single base substitution C T intron_variant BRCA-EU 2 23894238 23894238 single base substitution C A intron_variant BRCA-EU 2 23894957 23894957 single base substitution T A intron_variant BRCA-EU 2 23895788 23895788 single base substitution G A intron_variant BRCA-EU 2 23896934 23896934 single base substitution G A intron_variant BRCA-EU 2 23896966 23896966 single base substitution C T intron_variant BRCA-EU 2 23897107 23897107 single base substitution C A intron_variant BRCA-EU 2 23897824 23897825 deletion of <=200bp AG - intron_variant BRCA-EU 2 23898156 23898156 single base substitution C G intron_variant BRCA-EU 2 23898541 23898541 single base substitution T A intron_variant BRCA-EU 2 23899003 23899003 single base substitution G A intron_variant BRCA-EU 2 23899855 23899855 single base substitution C A intron_variant BRCA-EU 2 23899858 23899858 single base substitution C T intron_variant BRCA-EU 2 23899953 23899953 single base substitution A G intron_variant BRCA-EU 2 23900309 23900309 single base substitution G A intron_variant BRCA-EU 2 23900479 23900479 single base substitution C G intron_variant BRCA-EU 2 23900846 23900846 single base substitution A T intron_variant BRCA-EU 2 23901729 23901729 single base substitution C G intron_variant BRCA-EU 2 23902366 23902366 single base substitution C T intron_variant BRCA-EU 2 23903312 23903312 single base substitution G A intron_variant BRCA-EU 2 23904348 23904348 single base substitution G A intron_variant BRCA-EU 2 23904602 23904602 single base substitution C T intron_variant BRCA-EU 2 23905376 23905376 single base substitution C T intron_variant BRCA-EU 2 23905883 23905883 single base substitution C T intron_variant BRCA-EU 2 23905958 23905958 single base substitution G C intron_variant BRCA-EU 2 23906330 23906330 single base substitution G A intron_variant BRCA-EU 2 23906489 23906489 single base substitution G A intron_variant BRCA-EU 2 23906932 23906932 single base substitution G T intron_variant BRCA-EU 2 23906932 23906932 single base substitution G T upstream_gene_variant BRCA-EU 2 23908258 23908258 single base substitution C T intron_variant BRCA-EU 2 23908258 23908258 single base substitution C T upstream_gene_variant BRCA-EU 2 23908469 23908469 deletion of <=200bp C - intron_variant BRCA-EU 2 23908469 23908469 deletion of <=200bp C - upstream_gene_variant BRCA-EU 2 23910299 23910299 single base substitution C A intron_variant BRCA-EU 2 23910299 23910299 single base substitution C A upstream_gene_variant BRCA-EU 2 23911410 23911410 single base substitution C T intron_variant BRCA-EU 2 23911410 23911410 single base substitution C T upstream_gene_variant BRCA-EU 2 23911423 23911423 single base substitution C G intron_variant BRCA-EU 2 23911423 23911423 single base substitution C G upstream_gene_variant BRCA-EU 2 23913410 23913410 single base substitution G C exon_variant BRCA-EU 2 23913410 23913410 single base substitution G C intron_variant BRCA-EU 2 23915115 23915115 single base substitution A G intron_variant BRCA-EU 2 23915245 23915245 insertion of <=200bp - G intron_variant BRCA-EU 2 23916098 23916098 deletion of <=200bp C - intron_variant BRCA-EU 2 23917789 23917789 single base substitution G C intron_variant BRCA-EU 2 23919027 23919027 single base substitution G A intron_variant BRCA-EU 2 23919296 23919296 single base substitution G A exon_variant BRCA-EU 2 23919296 23919296 single base substitution G A missense_variant R512H 1535G>A BRCA-EU 2 23919296 23919296 single base substitution G A missense_variant R673H 2018G>A BRCA-EU 2 23919315 23919315 single base substitution C T exon_variant BRCA-EU 2 23919315 23919315 single base substitution C T synonymous_variant L518L 1554C>T BRCA-EU 2 23919315 23919315 single base substitution C T synonymous_variant L679L 2037C>T BRCA-EU 2 23920157 23920157 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 23920157 23920157 single base substitution C T intron_variant BRCA-EU 2 23920521 23920521 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 23920521 23920521 single base substitution G A intron_variant BRCA-EU 2 23922025 23922025 single base substitution C T downstream_gene_variant BRCA-EU 2 23922025 23922025 single base substitution C T intron_variant BRCA-EU 2 23922250 23922250 single base substitution C A downstream_gene_variant BRCA-EU 2 23922250 23922250 single base substitution C A intron_variant BRCA-EU 2 23922976 23922976 single base substitution C T downstream_gene_variant BRCA-EU 2 23922976 23922976 single base substitution C T intron_variant BRCA-EU 2 23926042 23926042 single base substitution C G intron_variant BRCA-EU 2 23926049 23926049 single base substitution C G splice_region_variant BRCA-EU 2 23926694 23926703 deletion of <=200bp AGGCGGGCCC - exon_variant BRCA-EU 2 23926694 23926703 deletion of <=200bp AGGCGGGCCC - frameshift_variant KAGP802 BRCA-EU 2 23926925 23926925 single base substitution A G intron_variant BRCA-EU 2 23926992 23926992 single base substitution C G intron_variant BRCA-EU 2 23927562 23927562 single base substitution G A intron_variant BRCA-EU 2 23931925 23931925 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 23933727 23933727 single base substitution G C downstream_gene_variant BRCA-EU 2 23934066 23934066 single base substitution C T downstream_gene_variant BRCA-EU 2 23935119 23935119 single base substitution C T downstream_gene_variant BRCA-EU 2 23935523 23935523 single base substitution G A downstream_gene_variant BRCA-FR 2 23610600 23610600 single base substitution C A intron_variant BRCA-FR 2 23611626 23611626 single base substitution G A intron_variant BRCA-FR 2 23612172 23612172 single base substitution G A intron_variant BRCA-FR 2 23612173 23612173 single base substitution C A intron_variant BRCA-FR 2 23616633 23616633 single base substitution G C intron_variant BRCA-FR 2 23618526 23618526 single base substitution G C intron_variant BRCA-FR 2 23626878 23626878 single base substitution G A intron_variant BRCA-FR 2 23634133 23634133 single base substitution G A intron_variant BRCA-FR 2 23635364 23635364 single base substitution T A intron_variant BRCA-FR 2 23639030 23639030 single base substitution C G intron_variant BRCA-FR 2 23642614 23642614 single base substitution G A intron_variant BRCA-FR 2 23645997 23645997 single base substitution C G intron_variant BRCA-FR 2 23651600 23651600 single base substitution G A intron_variant BRCA-FR 2 23660573 23660573 single base substitution G T intron_variant BRCA-FR 2 23662160 23662160 single base substitution G T intron_variant BRCA-FR 2 23664983 23664983 single base substitution G A intron_variant BRCA-FR 2 23670088 23670088 single base substitution G A intron_variant BRCA-FR 2 23672338 23672338 single base substitution G A intron_variant BRCA-FR 2 23672789 23672789 single base substitution G A intron_variant BRCA-FR 2 23680984 23680984 single base substitution C T intron_variant BRCA-FR 2 23685107 23685107 single base substitution G A intron_variant BRCA-FR 2 23686329 23686329 single base substitution G A intron_variant BRCA-FR 2 23690096 23690096 single base substitution C T intron_variant BRCA-FR 2 23696032 23696032 single base substitution C T intron_variant BRCA-FR 2 23698199 23698199 single base substitution G A intron_variant BRCA-FR 2 23706462 23706462 single base substitution G A intron_variant BRCA-FR 2 23706644 23706644 single base substitution G T intron_variant BRCA-FR 2 23734638 23734638 single base substitution G C intron_variant BRCA-FR 2 23735013 23735013 single base substitution G A intron_variant BRCA-FR 2 23744485 23744485 single base substitution G T intron_variant BRCA-FR 2 23746681 23746681 single base substitution C G intron_variant BRCA-FR 2 23784109 23784109 single base substitution G A intron_variant BRCA-FR 2 23784542 23784542 single base substitution C A intron_variant BRCA-FR 2 23785586 23785586 single base substitution G A intron_variant BRCA-FR 2 23788569 23788569 single base substitution G A intron_variant BRCA-FR 2 23795206 23795206 single base substitution G A intron_variant BRCA-FR 2 23809050 23809050 single base substitution T C intron_variant BRCA-FR 2 23814732 23814732 single base substitution C T intron_variant BRCA-FR 2 23816437 23816437 single base substitution C A intron_variant BRCA-FR 2 23824860 23824860 single base substitution C T intron_variant BRCA-FR 2 23830273 23830273 single base substitution G A intron_variant BRCA-FR 2 23832055 23832055 single base substitution T C intron_variant BRCA-FR 2 23834962 23834962 single base substitution G A intron_variant BRCA-FR 2 23836590 23836590 single base substitution C T intron_variant BRCA-FR 2 23837689 23837689 single base substitution G A intron_variant BRCA-FR 2 23838102 23838102 single base substitution G C intron_variant BRCA-FR 2 23839582 23839582 single base substitution G C intron_variant BRCA-FR 2 23839737 23839737 single base substitution G T intron_variant BRCA-FR 2 23865216 23865216 single base substitution C A exon_variant BRCA-FR 2 23865216 23865216 single base substitution C A missense_variant P146T 436C>A BRCA-FR 2 23865216 23865216 single base substitution C A upstream_gene_variant BRCA-FR 2 23868708 23868708 single base substitution G A downstream_gene_variant BRCA-FR 2 23868708 23868708 single base substitution G A intron_variant BRCA-FR 2 23869752 23869752 single base substitution C G downstream_gene_variant BRCA-FR 2 23869752 23869752 single base substitution C G intron_variant BRCA-FR 2 23874789 23874789 single base substitution G A intron_variant BRCA-FR 2 23880145 23880145 single base substitution C T intron_variant BRCA-FR 2 23883306 23883306 single base substitution C T intron_variant BRCA-FR 2 23887479 23887479 single base substitution C T intron_variant BRCA-FR 2 23888489 23888489 single base substitution G A intron_variant BRCA-FR 2 23889430 23889430 single base substitution C T intron_variant BRCA-FR 2 23891270 23891270 single base substitution G A intron_variant BRCA-FR 2 23892521 23892521 single base substitution C T intron_variant BRCA-FR 2 23899003 23899003 single base substitution G A intron_variant BRCA-FR 2 23901729 23901729 single base substitution C G intron_variant BRCA-FR 2 23905958 23905958 single base substitution G C intron_variant BRCA-FR 2 23910992 23910992 single base substitution C A intron_variant BRCA-FR 2 23910992 23910992 single base substitution C A upstream_gene_variant BRCA-FR 2 23913410 23913410 single base substitution G C exon_variant BRCA-FR 2 23913410 23913410 single base substitution G C intron_variant BRCA-FR 2 23922025 23922025 single base substitution C T downstream_gene_variant BRCA-FR 2 23922025 23922025 single base substitution C T intron_variant BRCA-UK 2 23649209 23649209 single base substitution T A intron_variant BRCA-UK 2 23727274 23727274 single base substitution A C intron_variant BRCA-UK 2 23747011 23747011 single base substitution G A intron_variant BRCA-UK 2 23764074 23764074 single base substitution C T intron_variant BRCA-UK 2 23804599 23804599 single base substitution G A intron_variant BRCA-UK 2 23837236 23837236 single base substitution A G intron_variant BRCA-UK 2 23843242 23843242 single base substitution C T intron_variant BRCA-UK 2 23843492 23843492 single base substitution C G intron_variant BRCA-UK 2 23843625 23843625 single base substitution C G intron_variant BRCA-UK 2 23843660 23843660 single base substitution C T intron_variant BRCA-UK 2 23850466 23850466 single base substitution G A intron_variant BRCA-UK 2 23859721 23859721 single base substitution G A intron_variant BRCA-UK 2 23861313 23861313 single base substitution G A intron_variant BRCA-UK 2 23861313 23861313 single base substitution G A upstream_gene_variant BRCA-UK 2 23865887 23865887 single base substitution G A exon_variant BRCA-UK 2 23865887 23865887 single base substitution G A intron_variant BRCA-UK 2 23867490 23867490 single base substitution G C downstream_gene_variant BRCA-UK 2 23867490 23867490 single base substitution G C intron_variant BRCA-UK 2 23874720 23874720 single base substitution G A intron_variant BRCA-UK 2 23899419 23899419 single base substitution G C intron_variant BRCA-UK 2 23906330 23906330 single base substitution G A intron_variant BRCA-US 2 23862102 23862102 single base substitution G T exon_variant BRCA-US 2 23862102 23862102 single base substitution G T missense_variant D127Y 379G>T BRCA-US 2 23862102 23862102 single base substitution G T upstream_gene_variant BRCA-US 2 23916391 23916391 single base substitution G A exon_variant BRCA-US 2 23916391 23916391 single base substitution G A missense_variant R351H 1052G>A BRCA-US 2 23916391 23916391 single base substitution G A missense_variant R512H 1535G>A BTCA-JP 2 23730024 23730024 single base substitution C T intron_variant BTCA-JP 2 23859798 23859798 single base substitution C A intron_variant BTCA-JP 2 23865833 23865833 single base substitution C T exon_variant BTCA-JP 2 23865833 23865833 single base substitution C T intron_variant BTCA-JP 2 23914693 23914693 single base substitution C T exon_variant BTCA-JP 2 23914693 23914693 single base substitution C T missense_variant A249V 746C>T BTCA-JP 2 23914693 23914693 single base substitution C T missense_variant A410V 1229C>T CESC-US 2 23785231 23785231 single base substitution G A exon_variant CESC-US 2 23785231 23785231 single base substitution G A synonymous_variant P55P 165G>A CESC-US 2 23919346 23919346 single base substitution G A exon_variant CESC-US 2 23919346 23919346 single base substitution G A missense_variant G529R 1585G>A CESC-US 2 23919346 23919346 single base substitution G A missense_variant G690R 2068G>A CESC-US 2 23929507 23929507 single base substitution G T exon_variant CESC-US 2 23929507 23929507 single base substitution G T synonymous_variant V867V 2601G>T CLLE-ES 2 23684866 23684866 single base substitution A G intron_variant CLLE-ES 2 23700690 23700690 single base substitution C G intron_variant CLLE-ES 2 23705704 23705704 single base substitution T C intron_variant CLLE-ES 2 23707708 23707708 single base substitution A G intron_variant CLLE-ES 2 23738771 23738771 single base substitution G A intron_variant CLLE-ES 2 23743222 23743222 single base substitution A G intron_variant CLLE-ES 2 23743417 23743417 single base substitution G A intron_variant CLLE-ES 2 23743645 23743647 deletion of <=200bp ATT - intron_variant CLLE-ES 2 23775845 23775845 single base substitution G T intron_variant CLLE-ES 2 23778358 23778358 single base substitution C A intron_variant CLLE-ES 2 23788451 23788451 single base substitution G T intron_variant CLLE-ES 2 23791245 23791245 single base substitution G C intron_variant CLLE-ES 2 23816440 23816440 single base substitution C G intron_variant CLLE-ES 2 23829377 23829377 single base substitution G A intron_variant CLLE-ES 2 23859857 23859857 single base substitution T G intron_variant CLLE-ES 2 23883370 23883370 single base substitution G A intron_variant CLLE-ES 2 23917528 23917528 single base substitution C T intron_variant CLLE-ES 2 23919296 23919296 single base substitution G A exon_variant CLLE-ES 2 23919296 23919296 single base substitution G A missense_variant R512H 1535G>A CLLE-ES 2 23919296 23919296 single base substitution G A missense_variant R673H 2018G>A CLLE-ES 2 23926008 23926008 single base substitution C T intron_variant CLLE-ES 2 23928705 23928705 single base substitution A C intron_variant CLLE-ES 2 23930641 23930641 single base substitution A C 3_prime_UTR_variant CLLE-ES 2 23930641 23930641 single base substitution A C exon_variant COAD-US 2 23785190 23785190 single base substitution G A exon_variant COAD-US 2 23785190 23785190 single base substitution G A missense_variant G42S 124G>A COAD-US 2 23862063 23862063 single base substitution C T exon_variant COAD-US 2 23862063 23862063 single base substitution C T missense_variant R114W 340C>T COAD-US 2 23862063 23862063 single base substitution C T upstream_gene_variant COAD-US 2 23865237 23865237 single base substitution G T exon_variant COAD-US 2 23865237 23865237 single base substitution G T missense_variant A153S 457G>T COAD-US 2 23865237 23865237 single base substitution G T upstream_gene_variant COAD-US 2 23865348 23865348 single base substitution C T exon_variant COAD-US 2 23865348 23865348 single base substitution C T missense_variant P190S 568C>T COAD-US 2 23865348 23865348 single base substitution C T missense_variant P29S 85C>T COAD-US 2 23916296 23916296 single base substitution C A exon_variant COAD-US 2 23916296 23916296 single base substitution C A missense_variant F319L 957C>A COAD-US 2 23916296 23916296 single base substitution C A missense_variant F480L 1440C>A COAD-US 2 23918521 23918521 single base substitution G A exon_variant COAD-US 2 23918521 23918521 single base substitution G A missense_variant R363H 1088G>A COAD-US 2 23918521 23918521 single base substitution G A missense_variant R524H 1571G>A COAD-US 2 23918522 23918522 single base substitution C T exon_variant COAD-US 2 23918522 23918522 single base substitution C T synonymous_variant R363R 1089C>T COAD-US 2 23918522 23918522 single base substitution C T synonymous_variant R524R 1572C>T COCA-CN 2 23621656 23621656 single base substitution A C intron_variant COCA-CN 2 23621734 23621734 single base substitution G T intron_variant COCA-CN 2 23785124 23785124 single base substitution G A exon_variant COCA-CN 2 23785124 23785124 single base substitution G A missense_variant E20K 58G>A COCA-CN 2 23785138 23785138 single base substitution C T exon_variant COCA-CN 2 23785138 23785138 single base substitution C T synonymous_variant N24N 72C>T COCA-CN 2 23813785 23813785 single base substitution G A intron_variant COCA-CN 2 23862008 23862008 single base substitution G T splice_acceptor_variant COCA-CN 2 23862008 23862008 single base substitution G T upstream_gene_variant COCA-CN 2 23865229 23865229 single base substitution C T exon_variant COCA-CN 2 23865229 23865229 single base substitution C T missense_variant T150M 449C>T COCA-CN 2 23865229 23865229 single base substitution C T upstream_gene_variant COCA-CN 2 23865497 23865497 single base substitution C T exon_variant COCA-CN 2 23865497 23865497 single base substitution C T synonymous_variant P239P 717C>T COCA-CN 2 23865497 23865497 single base substitution C T synonymous_variant P78P 234C>T COCA-CN 2 23865749 23865749 single base substitution C T exon_variant COCA-CN 2 23865749 23865749 single base substitution C T intron_variant COCA-CN 2 23866082 23866082 single base substitution C T exon_variant COCA-CN 2 23866082 23866082 single base substitution C T intron_variant COCA-CN 2 23916151 23916151 single base substitution C T exon_variant COCA-CN 2 23916151 23916151 single base substitution C T missense_variant T271M 812C>T COCA-CN 2 23916151 23916151 single base substitution C T missense_variant T432M 1295C>T COCA-CN 2 23918774 23918774 single base substitution G A intron_variant COCA-CN 2 23919375 23919375 single base substitution C T exon_variant COCA-CN 2 23919375 23919375 single base substitution C T synonymous_variant H538H 1614C>T COCA-CN 2 23919375 23919375 single base substitution C T synonymous_variant H699H 2097C>T COCA-CN 2 23929353 23929353 single base substitution C T missense_variant A816V 2447C>T COCA-CN 2 23929353 23929353 single base substitution C T splice_region_variant COCA-CN 2 23929517 23929517 single base substitution T C exon_variant COCA-CN 2 23929517 23929517 single base substitution T C missense_variant Y871H 2611T>C EOPC-DE 2 23627773 23627773 single base substitution C G intron_variant EOPC-DE 2 23642039 23642039 single base substitution T C intron_variant EOPC-DE 2 23698198 23698198 single base substitution C T intron_variant EOPC-DE 2 23705733 23705733 single base substitution T C intron_variant EOPC-DE 2 23798014 23798014 single base substitution C A intron_variant EOPC-DE 2 23810003 23810003 single base substitution G T intron_variant EOPC-DE 2 23821869 23821869 single base substitution C T intron_variant EOPC-DE 2 23826640 23826640 single base substitution T A intron_variant EOPC-DE 2 23848569 23848569 single base substitution G A intron_variant EOPC-DE 2 23868999 23868999 single base substitution C T downstream_gene_variant EOPC-DE 2 23868999 23868999 single base substitution C T intron_variant ESAD-UK 2 23603371 23603371 single base substitution G A upstream_gene_variant ESAD-UK 2 23604649 23604649 single base substitution T G upstream_gene_variant ESAD-UK 2 23605718 23605718 single base substitution C G upstream_gene_variant ESAD-UK 2 23605818 23605818 single base substitution C T upstream_gene_variant ESAD-UK 2 23609099 23609099 single base substitution G A intron_variant ESAD-UK 2 23609499 23609499 single base substitution C G intron_variant ESAD-UK 2 23610075 23610075 single base substitution C T intron_variant ESAD-UK 2 23610444 23610444 insertion of <=200bp - T intron_variant ESAD-UK 2 23611029 23611029 single base substitution T G intron_variant ESAD-UK 2 23611194 23611194 insertion of <=200bp - T intron_variant ESAD-UK 2 23611513 23611513 single base substitution T G intron_variant ESAD-UK 2 23611635 23611635 single base substitution T G intron_variant ESAD-UK 2 23611724 23611724 single base substitution C A intron_variant ESAD-UK 2 23612570 23612570 single base substitution A G intron_variant ESAD-UK 2 23612571 23612571 deletion of <=200bp G - intron_variant ESAD-UK 2 23612814 23612814 single base substitution G A intron_variant ESAD-UK 2 23613388 23613388 insertion of <=200bp - TA intron_variant ESAD-UK 2 23614776 23614776 single base substitution T C intron_variant ESAD-UK 2 23617128 23617128 single base substitution G A intron_variant ESAD-UK 2 23617383 23617383 single base substitution G T intron_variant ESAD-UK 2 23617560 23617560 single base substitution G C intron_variant ESAD-UK 2 23619120 23619120 single base substitution G A intron_variant ESAD-UK 2 23619966 23619966 single base substitution G C intron_variant ESAD-UK 2 23620988 23620988 single base substitution A C intron_variant ESAD-UK 2 23621231 23621231 single base substitution C T intron_variant ESAD-UK 2 23621583 23621583 single base substitution A C intron_variant ESAD-UK 2 23622475 23622475 single base substitution C T intron_variant ESAD-UK 2 23622937 23622937 single base substitution A C intron_variant ESAD-UK 2 23626093 23626093 single base substitution C T intron_variant ESAD-UK 2 23626225 23626225 single base substitution A G intron_variant ESAD-UK 2 23626406 23626406 single base substitution G A intron_variant ESAD-UK 2 23628103 23628103 single base substitution C A intron_variant ESAD-UK 2 23629029 23629029 single base substitution G A intron_variant ESAD-UK 2 23629457 23629457 insertion of <=200bp - T intron_variant ESAD-UK 2 23631781 23631781 single base substitution C G intron_variant ESAD-UK 2 23631802 23631802 single base substitution G A intron_variant ESAD-UK 2 23632583 23632583 single base substitution G A intron_variant ESAD-UK 2 23633660 23633660 single base substitution T C intron_variant ESAD-UK 2 23635840 23635840 single base substitution T G intron_variant ESAD-UK 2 23636823 23636823 single base substitution C A intron_variant ESAD-UK 2 23637205 23637205 single base substitution G A intron_variant ESAD-UK 2 23637227 23637227 single base substitution G T intron_variant ESAD-UK 2 23637228 23637228 single base substitution G T intron_variant ESAD-UK 2 23637621 23637621 single base substitution G A intron_variant ESAD-UK 2 23637659 23637659 single base substitution G A intron_variant ESAD-UK 2 23637909 23637909 single base substitution C A intron_variant ESAD-UK 2 23640249 23640249 single base substitution A T intron_variant ESAD-UK 2 23641073 23641073 single base substitution C G intron_variant ESAD-UK 2 23641141 23641141 single base substitution T C intron_variant ESAD-UK 2 23641271 23641271 single base substitution G A intron_variant ESAD-UK 2 23641852 23641852 single base substitution G T intron_variant ESAD-UK 2 23643184 23643184 single base substitution C G intron_variant ESAD-UK 2 23643388 23643388 single base substitution C T intron_variant ESAD-UK 2 23643719 23643719 single base substitution C G intron_variant ESAD-UK 2 23644826 23644826 single base substitution C T intron_variant ESAD-UK 2 23645953 23645953 single base substitution C T intron_variant ESAD-UK 2 23646591 23646591 single base substitution T C intron_variant ESAD-UK 2 23646608 23646608 single base substitution A C intron_variant ESAD-UK 2 23647233 23647233 single base substitution C T intron_variant ESAD-UK 2 23647338 23647338 single base substitution G A intron_variant ESAD-UK 2 23647562 23647562 single base substitution C A intron_variant ESAD-UK 2 23647602 23647602 single base substitution G A intron_variant ESAD-UK 2 23651592 23651592 single base substitution C T intron_variant ESAD-UK 2 23651768 23651768 single base substitution C T intron_variant ESAD-UK 2 23652497 23652497 single base substitution G A intron_variant ESAD-UK 2 23652498 23652498 single base substitution C T intron_variant ESAD-UK 2 23652981 23652981 single base substitution G T intron_variant ESAD-UK 2 23654988 23654988 single base substitution G A intron_variant ESAD-UK 2 23655687 23655687 single base substitution G C intron_variant ESAD-UK 2 23655786 23655786 single base substitution G A intron_variant ESAD-UK 2 23655921 23655921 single base substitution T C intron_variant ESAD-UK 2 23655974 23655974 single base substitution G A intron_variant ESAD-UK 2 23656566 23656566 single base substitution C T intron_variant ESAD-UK 2 23656631 23656631 single base substitution T A intron_variant ESAD-UK 2 23657746 23657746 single base substitution T G intron_variant ESAD-UK 2 23657871 23657871 single base substitution G T intron_variant ESAD-UK 2 23659234 23659234 single base substitution T G intron_variant ESAD-UK 2 23659881 23659881 single base substitution T A intron_variant ESAD-UK 2 23660199 23660199 single base substitution C T intron_variant ESAD-UK 2 23660295 23660295 single base substitution C A intron_variant ESAD-UK 2 23666047 23666047 single base substitution T G intron_variant ESAD-UK 2 23667028 23667028 single base substitution T G intron_variant ESAD-UK 2 23667225 23667225 single base substitution G T intron_variant ESAD-UK 2 23668147 23668147 insertion of <=200bp - T intron_variant ESAD-UK 2 23668644 23668644 single base substitution T G intron_variant ESAD-UK 2 23669488 23669488 single base substitution G A intron_variant ESAD-UK 2 23669494 23669494 single base substitution T G intron_variant ESAD-UK 2 23669992 23669992 single base substitution T G intron_variant ESAD-UK 2 23670331 23670331 single base substitution C A intron_variant ESAD-UK 2 23670406 23670406 single base substitution A C intron_variant ESAD-UK 2 23670788 23670788 single base substitution A G intron_variant ESAD-UK 2 23672276 23672276 single base substitution G A intron_variant ESAD-UK 2 23672932 23672932 single base substitution G A intron_variant ESAD-UK 2 23675774 23675774 insertion of <=200bp - C intron_variant ESAD-UK 2 23675782 23675782 single base substitution C A intron_variant ESAD-UK 2 23676488 23676488 single base substitution G A intron_variant ESAD-UK 2 23676676 23676676 insertion of <=200bp - G intron_variant ESAD-UK 2 23676689 23676689 single base substitution A C intron_variant ESAD-UK 2 23676914 23676914 single base substitution G T intron_variant ESAD-UK 2 23676928 23676928 single base substitution G A intron_variant ESAD-UK 2 23680497 23680497 single base substitution A C intron_variant ESAD-UK 2 23680810 23680810 single base substitution G A intron_variant ESAD-UK 2 23680907 23680907 single base substitution A T intron_variant ESAD-UK 2 23681336 23681336 single base substitution C G intron_variant ESAD-UK 2 23681924 23681924 single base substitution A C intron_variant ESAD-UK 2 23682084 23682084 single base substitution A C intron_variant ESAD-UK 2 23682284 23682284 single base substitution A G intron_variant ESAD-UK 2 23684234 23684234 single base substitution G T intron_variant ESAD-UK 2 23685234 23685234 single base substitution C T intron_variant ESAD-UK 2 23686016 23686016 single base substitution C T intron_variant ESAD-UK 2 23686224 23686224 single base substitution C T intron_variant ESAD-UK 2 23686982 23686982 single base substitution A C intron_variant ESAD-UK 2 23687162 23687162 single base substitution G T intron_variant ESAD-UK 2 23688061 23688061 single base substitution G T intron_variant ESAD-UK 2 23688153 23688153 single base substitution A T intron_variant ESAD-UK 2 23688253 23688253 single base substitution G A intron_variant ESAD-UK 2 23689574 23689574 deletion of <=200bp T - intron_variant ESAD-UK 2 23689574 23689574 single base substitution T C intron_variant ESAD-UK 2 23690103 23690103 single base substitution G A intron_variant ESAD-UK 2 23690717 23690717 single base substitution T G intron_variant ESAD-UK 2 23692371 23692371 single base substitution G T intron_variant ESAD-UK 2 23692484 23692484 single base substitution T A intron_variant ESAD-UK 2 23693149 23693149 single base substitution T G intron_variant ESAD-UK 2 23694020 23694020 single base substitution A C intron_variant ESAD-UK 2 23694619 23694619 single base substitution A G intron_variant ESAD-UK 2 23695454 23695454 single base substitution A G intron_variant ESAD-UK 2 23695924 23695924 single base substitution G T intron_variant ESAD-UK 2 23695976 23695976 single base substitution C G intron_variant ESAD-UK 2 23696001 23696001 single base substitution C A intron_variant ESAD-UK 2 23696684 23696684 single base substitution C T intron_variant ESAD-UK 2 23696698 23696698 single base substitution A G intron_variant ESAD-UK 2 23697596 23697596 single base substitution A C intron_variant ESAD-UK 2 23698116 23698116 single base substitution G T intron_variant ESAD-UK 2 23698786 23698786 single base substitution C T intron_variant ESAD-UK 2 23699009 23699009 single base substitution C T intron_variant ESAD-UK 2 23699510 23699510 single base substitution C T intron_variant ESAD-UK 2 23699927 23699927 single base substitution G A intron_variant ESAD-UK 2 23701710 23701710 single base substitution G C intron_variant ESAD-UK 2 23701843 23701843 single base substitution G A intron_variant ESAD-UK 2 23702627 23702627 single base substitution C G intron_variant ESAD-UK 2 23703369 23703369 single base substitution C A intron_variant ESAD-UK 2 23704054 23704054 single base substitution C G intron_variant ESAD-UK 2 23705610 23705610 single base substitution C A intron_variant ESAD-UK 2 23705730 23705741 deletion of <=200bp CATTCATTCATC - intron_variant ESAD-UK 2 23706914 23706914 single base substitution C T intron_variant ESAD-UK 2 23711271 23711271 single base substitution C A intron_variant ESAD-UK 2 23711858 23711858 single base substitution C A intron_variant ESAD-UK 2 23714174 23714174 single base substitution T C intron_variant ESAD-UK 2 23715747 23715747 single base substitution C T intron_variant ESAD-UK 2 23715963 23715963 single base substitution G A intron_variant ESAD-UK 2 23718319 23718319 single base substitution C T intron_variant ESAD-UK 2 23718406 23718406 single base substitution A C intron_variant ESAD-UK 2 23718446 23718446 single base substitution T C intron_variant ESAD-UK 2 23719632 23719632 single base substitution G A intron_variant ESAD-UK 2 23720452 23720452 single base substitution C G intron_variant ESAD-UK 2 23722348 23722348 single base substitution C A intron_variant ESAD-UK 2 23722891 23722891 single base substitution G A intron_variant ESAD-UK 2 23723050 23723050 single base substitution A C intron_variant ESAD-UK 2 23724000 23724000 single base substitution C T intron_variant ESAD-UK 2 23724747 23724747 single base substitution G A intron_variant ESAD-UK 2 23725148 23725151 deletion of <=200bp GAGA - intron_variant ESAD-UK 2 23725213 23725213 single base substitution C T intron_variant ESAD-UK 2 23726021 23726021 single base substitution T C intron_variant ESAD-UK 2 23727243 23727243 single base substitution T G intron_variant ESAD-UK 2 23727440 23727440 single base substitution A G intron_variant ESAD-UK 2 23729143 23729143 single base substitution T A intron_variant ESAD-UK 2 23730151 23730151 single base substitution C T intron_variant ESAD-UK 2 23730245 23730245 single base substitution T C intron_variant ESAD-UK 2 23730245 23730245 single base substitution T G intron_variant ESAD-UK 2 23730286 23730286 single base substitution G A intron_variant ESAD-UK 2 23730470 23730470 single base substitution G T intron_variant ESAD-UK 2 23731694 23731694 single base substitution A G intron_variant ESAD-UK 2 23731999 23731999 single base substitution G A intron_variant ESAD-UK 2 23732512 23732512 single base substitution G A intron_variant ESAD-UK 2 23732893 23732893 single base substitution C T intron_variant ESAD-UK 2 23733443 23733443 single base substitution C T intron_variant ESAD-UK 2 23735106 23735106 single base substitution G A intron_variant ESAD-UK 2 23737707 23737707 single base substitution C A intron_variant ESAD-UK 2 23738631 23738631 single base substitution G T intron_variant ESAD-UK 2 23739607 23739607 single base substitution C G intron_variant ESAD-UK 2 23739849 23739849 single base substitution G A intron_variant ESAD-UK 2 23740017 23740017 single base substitution C T intron_variant ESAD-UK 2 23741006 23741006 single base substitution A C intron_variant ESAD-UK 2 23742154 23742154 single base substitution G T intron_variant ESAD-UK 2 23742388 23742388 single base substitution C T intron_variant ESAD-UK 2 23743865 23743865 insertion of <=200bp - G intron_variant ESAD-UK 2 23744209 23744209 single base substitution T G intron_variant ESAD-UK 2 23745486 23745486 single base substitution G A intron_variant ESAD-UK 2 23747135 23747135 single base substitution A C intron_variant ESAD-UK 2 23748499 23748499 single base substitution G A intron_variant ESAD-UK 2 23749087 23749087 single base substitution C T intron_variant ESAD-UK 2 23749523 23749523 single base substitution C A intron_variant ESAD-UK 2 23749778 23749778 single base substitution T G intron_variant ESAD-UK 2 23749969 23749969 single base substitution C T intron_variant ESAD-UK 2 23750547 23750547 single base substitution C T intron_variant ESAD-UK 2 23750547 23750547 single base substitution C T upstream_gene_variant ESAD-UK 2 23750551 23750551 single base substitution C T intron_variant ESAD-UK 2 23750551 23750551 single base substitution C T upstream_gene_variant ESAD-UK 2 23751173 23751173 single base substitution G T intron_variant ESAD-UK 2 23751173 23751173 single base substitution G T upstream_gene_variant ESAD-UK 2 23751312 23751312 single base substitution G A intron_variant ESAD-UK 2 23751312 23751312 single base substitution G A upstream_gene_variant ESAD-UK 2 23751490 23751490 single base substitution A C intron_variant ESAD-UK 2 23751490 23751490 single base substitution A C upstream_gene_variant ESAD-UK 2 23751683 23751683 single base substitution C G intron_variant ESAD-UK 2 23751683 23751683 single base substitution C G upstream_gene_variant ESAD-UK 2 23752106 23752106 single base substitution A C intron_variant ESAD-UK 2 23752106 23752106 single base substitution A C upstream_gene_variant ESAD-UK 2 23753278 23753278 single base substitution G T intron_variant ESAD-UK 2 23753278 23753278 single base substitution G T upstream_gene_variant ESAD-UK 2 23755458 23755458 single base substitution C T exon_variant ESAD-UK 2 23755458 23755458 single base substitution C T intron_variant ESAD-UK 2 23755641 23755641 single base substitution A G intron_variant ESAD-UK 2 23756578 23756578 single base substitution G C intron_variant ESAD-UK 2 23758808 23758808 single base substitution G T intron_variant ESAD-UK 2 23759293 23759293 single base substitution T G intron_variant ESAD-UK 2 23759317 23759317 single base substitution G A intron_variant ESAD-UK 2 23759921 23759921 single base substitution T G intron_variant ESAD-UK 2 23760495 23760495 single base substitution G T intron_variant ESAD-UK 2 23761986 23761986 single base substitution T A intron_variant ESAD-UK 2 23762048 23762048 single base substitution A G intron_variant ESAD-UK 2 23762458 23762458 single base substitution C T intron_variant ESAD-UK 2 23763671 23763671 single base substitution G A intron_variant ESAD-UK 2 23764293 23764293 single base substitution T A intron_variant ESAD-UK 2 23764594 23764594 single base substitution G A intron_variant ESAD-UK 2 23764621 23764621 single base substitution A T intron_variant ESAD-UK 2 23764800 23764800 single base substitution G A intron_variant ESAD-UK 2 23765641 23765641 single base substitution G A intron_variant ESAD-UK 2 23766600 23766600 single base substitution G T intron_variant ESAD-UK 2 23767224 23767224 single base substitution G A intron_variant ESAD-UK 2 23767464 23767464 single base substitution A C intron_variant ESAD-UK 2 23767532 23767532 single base substitution G C intron_variant ESAD-UK 2 23768888 23768888 single base substitution T G intron_variant ESAD-UK 2 23769352 23769352 single base substitution G A intron_variant ESAD-UK 2 23769921 23769921 single base substitution C G intron_variant ESAD-UK 2 23770740 23770740 single base substitution G A intron_variant ESAD-UK 2 23770998 23770998 single base substitution A C intron_variant ESAD-UK 2 23772114 23772114 single base substitution G A intron_variant ESAD-UK 2 23772497 23772497 single base substitution A C intron_variant ESAD-UK 2 23774070 23774070 single base substitution C T intron_variant ESAD-UK 2 23774467 23774467 single base substitution T G intron_variant ESAD-UK 2 23774707 23774707 single base substitution A T intron_variant ESAD-UK 2 23775035 23775035 single base substitution T C intron_variant ESAD-UK 2 23775075 23775075 single base substitution C A intron_variant ESAD-UK 2 23775404 23775404 single base substitution G T intron_variant ESAD-UK 2 23775926 23775926 single base substitution G A intron_variant ESAD-UK 2 23777022 23777022 single base substitution A G intron_variant ESAD-UK 2 23778413 23778413 single base substitution G C intron_variant ESAD-UK 2 23778426 23778426 single base substitution C T intron_variant ESAD-UK 2 23778460 23778460 single base substitution G C intron_variant ESAD-UK 2 23778701 23778701 single base substitution G A intron_variant ESAD-UK 2 23780354 23780354 single base substitution C T intron_variant ESAD-UK 2 23780596 23780596 single base substitution T A intron_variant ESAD-UK 2 23780824 23780824 single base substitution G A intron_variant ESAD-UK 2 23780833 23780833 single base substitution C T intron_variant ESAD-UK 2 23782039 23782039 single base substitution G A intron_variant ESAD-UK 2 23783556 23783556 single base substitution G A intron_variant ESAD-UK 2 23783673 23783673 single base substitution G C intron_variant ESAD-UK 2 23784678 23784678 single base substitution C T intron_variant ESAD-UK 2 23785563 23785563 single base substitution T G intron_variant ESAD-UK 2 23785853 23785853 single base substitution G T intron_variant ESAD-UK 2 23786456 23786456 single base substitution G A intron_variant ESAD-UK 2 23787595 23787595 single base substitution C T intron_variant ESAD-UK 2 23787742 23787742 single base substitution A G intron_variant ESAD-UK 2 23790425 23790425 single base substitution G C intron_variant ESAD-UK 2 23790646 23790646 single base substitution G A intron_variant ESAD-UK 2 23792805 23792805 single base substitution G A intron_variant ESAD-UK 2 23793504 23793504 single base substitution A C intron_variant ESAD-UK 2 23793517 23793517 single base substitution C T intron_variant ESAD-UK 2 23793988 23793988 single base substitution G A intron_variant ESAD-UK 2 23794521 23794521 deletion of <=200bp A - intron_variant ESAD-UK 2 23795186 23795186 single base substitution C T intron_variant ESAD-UK 2 23795719 23795719 single base substitution C T intron_variant ESAD-UK 2 23796219 23796219 single base substitution G A intron_variant ESAD-UK 2 23797551 23797551 single base substitution G A intron_variant ESAD-UK 2 23798028 23798028 single base substitution C T intron_variant ESAD-UK 2 23798118 23798118 single base substitution C T intron_variant ESAD-UK 2 23798681 23798681 single base substitution G A intron_variant ESAD-UK 2 23800126 23800126 single base substitution C T intron_variant ESAD-UK 2 23800802 23800802 single base substitution G T intron_variant ESAD-UK 2 23800820 23800820 single base substitution C T intron_variant ESAD-UK 2 23801818 23801818 single base substitution G T intron_variant ESAD-UK 2 23803038 23803038 single base substitution A C intron_variant ESAD-UK 2 23804169 23804169 single base substitution T A intron_variant ESAD-UK 2 23804554 23804554 single base substitution C T intron_variant ESAD-UK 2 23806058 23806058 single base substitution C G intron_variant ESAD-UK 2 23807394 23807394 single base substitution G A intron_variant ESAD-UK 2 23810296 23810296 single base substitution A C intron_variant ESAD-UK 2 23810780 23810780 single base substitution A T intron_variant ESAD-UK 2 23811518 23811518 single base substitution G T intron_variant ESAD-UK 2 23811704 23811704 single base substitution A C intron_variant ESAD-UK 2 23811704 23811704 single base substitution A G intron_variant ESAD-UK 2 23815222 23815222 single base substitution G T intron_variant ESAD-UK 2 23815407 23815407 single base substitution G A intron_variant ESAD-UK 2 23815781 23815781 single base substitution A G intron_variant ESAD-UK 2 23815928 23815928 single base substitution G C intron_variant ESAD-UK 2 23816364 23816364 single base substitution G C intron_variant ESAD-UK 2 23817153 23817153 insertion of <=200bp - GAGGT intron_variant ESAD-UK 2 23817292 23817292 single base substitution C T intron_variant ESAD-UK 2 23818230 23818230 single base substitution G A intron_variant ESAD-UK 2 23818583 23818583 single base substitution A C intron_variant ESAD-UK 2 23819046 23819046 single base substitution C T intron_variant ESAD-UK 2 23819840 23819840 single base substitution T A intron_variant ESAD-UK 2 23819916 23819916 single base substitution C G intron_variant ESAD-UK 2 23820545 23820545 single base substitution T C intron_variant ESAD-UK 2 23822876 23822876 single base substitution C T intron_variant ESAD-UK 2 23823955 23823955 single base substitution T G intron_variant ESAD-UK 2 23823989 23823989 single base substitution A C intron_variant ESAD-UK 2 23824111 23824111 single base substitution G T intron_variant ESAD-UK 2 23826322 23826322 single base substitution C T intron_variant ESAD-UK 2 23826672 23826672 single base substitution C T intron_variant ESAD-UK 2 23827060 23827060 single base substitution C T intron_variant ESAD-UK 2 23827344 23827344 single base substitution C T intron_variant ESAD-UK 2 23829694 23829694 single base substitution T C intron_variant ESAD-UK 2 23830527 23830527 single base substitution A T intron_variant ESAD-UK 2 23830912 23830912 single base substitution A C intron_variant ESAD-UK 2 23831986 23831986 single base substitution T C intron_variant ESAD-UK 2 23832393 23832393 single base substitution G A intron_variant ESAD-UK 2 23832430 23832430 single base substitution T G intron_variant ESAD-UK 2 23834088 23834088 single base substitution G A intron_variant ESAD-UK 2 23834478 23834478 single base substitution C T intron_variant ESAD-UK 2 23835287 23835287 single base substitution T A intron_variant ESAD-UK 2 23836916 23836916 single base substitution C G intron_variant ESAD-UK 2 23838190 23838190 single base substitution G A intron_variant ESAD-UK 2 23838431 23838431 single base substitution G A intron_variant ESAD-UK 2 23841239 23841239 single base substitution G A intron_variant ESAD-UK 2 23841388 23841388 single base substitution A G intron_variant ESAD-UK 2 23841474 23841474 single base substitution T C intron_variant ESAD-UK 2 23841520 23841520 single base substitution G A intron_variant ESAD-UK 2 23842172 23842172 single base substitution T G intron_variant ESAD-UK 2 23843486 23843486 single base substitution G A intron_variant ESAD-UK 2 23845810 23845810 single base substitution T G intron_variant ESAD-UK 2 23847064 23847064 single base substitution G A intron_variant ESAD-UK 2 23848952 23848952 single base substitution G T intron_variant ESAD-UK 2 23848994 23848994 single base substitution A C intron_variant ESAD-UK 2 23849671 23849671 single base substitution C T intron_variant ESAD-UK 2 23850275 23850275 single base substitution G A intron_variant ESAD-UK 2 23850736 23850736 single base substitution C A intron_variant ESAD-UK 2 23851792 23851792 single base substitution G A intron_variant ESAD-UK 2 23852949 23852949 single base substitution G A intron_variant ESAD-UK 2 23853139 23853139 single base substitution G T intron_variant ESAD-UK 2 23854523 23854523 single base substitution G A intron_variant ESAD-UK 2 23854530 23854530 single base substitution T G intron_variant ESAD-UK 2 23854610 23854610 single base substitution A G intron_variant ESAD-UK 2 23856529 23856529 single base substitution A C intron_variant ESAD-UK 2 23857237 23857237 single base substitution G A intron_variant ESAD-UK 2 23857361 23857361 single base substitution G A intron_variant ESAD-UK 2 23858431 23858431 single base substitution A C intron_variant ESAD-UK 2 23860466 23860466 single base substitution T A intron_variant ESAD-UK 2 23860466 23860466 single base substitution T A upstream_gene_variant ESAD-UK 2 23862185 23862185 single base substitution C A intron_variant ESAD-UK 2 23862185 23862185 single base substitution C A upstream_gene_variant ESAD-UK 2 23864090 23864090 single base substitution C T intron_variant ESAD-UK 2 23864090 23864090 single base substitution C T upstream_gene_variant ESAD-UK 2 23864930 23864930 single base substitution C T intron_variant ESAD-UK 2 23864930 23864930 single base substitution C T upstream_gene_variant ESAD-UK 2 23865669 23865669 single base substitution C T exon_variant ESAD-UK 2 23865669 23865669 single base substitution C T missense_variant R136W 406C>T ESAD-UK 2 23865669 23865669 single base substitution C T missense_variant R297W 889C>T ESAD-UK 2 23866665 23866665 single base substitution G T exon_variant ESAD-UK 2 23866665 23866665 single base substitution G T intron_variant ESAD-UK 2 23866771 23866771 single base substitution T G exon_variant ESAD-UK 2 23866771 23866771 single base substitution T G intron_variant ESAD-UK 2 23869284 23869284 single base substitution G A downstream_gene_variant ESAD-UK 2 23869284 23869284 single base substitution G A intron_variant ESAD-UK 2 23870599 23870599 single base substitution T C downstream_gene_variant ESAD-UK 2 23870599 23870599 single base substitution T C intron_variant ESAD-UK 2 23871271 23871271 single base substitution C T downstream_gene_variant ESAD-UK 2 23871271 23871271 single base substitution C T intron_variant ESAD-UK 2 23871733 23871733 single base substitution C A downstream_gene_variant ESAD-UK 2 23871733 23871733 single base substitution C A intron_variant ESAD-UK 2 23872399 23872399 single base substitution G A intron_variant ESAD-UK 2 23872417 23872417 single base substitution G A intron_variant ESAD-UK 2 23873572 23873572 single base substitution T G intron_variant ESAD-UK 2 23873722 23873722 single base substitution G T intron_variant ESAD-UK 2 23875303 23875303 single base substitution C A intron_variant ESAD-UK 2 23877049 23877049 single base substitution T A intron_variant ESAD-UK 2 23877772 23877772 single base substitution C T intron_variant ESAD-UK 2 23878594 23878594 single base substitution A G intron_variant ESAD-UK 2 23879031 23879031 single base substitution A C intron_variant ESAD-UK 2 23880590 23880590 single base substitution T C intron_variant ESAD-UK 2 23881284 23881284 single base substitution G A intron_variant ESAD-UK 2 23882105 23882105 single base substitution C T intron_variant ESAD-UK 2 23882733 23882733 single base substitution T G intron_variant ESAD-UK 2 23883761 23883761 single base substitution C T intron_variant ESAD-UK 2 23884055 23884055 single base substitution T G intron_variant ESAD-UK 2 23885169 23885169 single base substitution G A intron_variant ESAD-UK 2 23886221 23886221 single base substitution C T intron_variant ESAD-UK 2 23886234 23886234 single base substitution G A intron_variant ESAD-UK 2 23886307 23886307 single base substitution C T intron_variant ESAD-UK 2 23886449 23886449 single base substitution T G intron_variant ESAD-UK 2 23888032 23888032 single base substitution G T intron_variant ESAD-UK 2 23888199 23888199 single base substitution A G intron_variant ESAD-UK 2 23888639 23888639 single base substitution A G intron_variant ESAD-UK 2 23888671 23888671 single base substitution C T intron_variant ESAD-UK 2 23888672 23888672 single base substitution G A intron_variant ESAD-UK 2 23888678 23888678 single base substitution G A intron_variant ESAD-UK 2 23889454 23889454 single base substitution C A intron_variant ESAD-UK 2 23894891 23894891 single base substitution G A intron_variant ESAD-UK 2 23895821 23895821 single base substitution C G intron_variant ESAD-UK 2 23896364 23896364 single base substitution C T intron_variant ESAD-UK 2 23898797 23898797 single base substitution G T intron_variant ESAD-UK 2 23899566 23899566 single base substitution A C intron_variant ESAD-UK 2 23899630 23899630 single base substitution T G intron_variant ESAD-UK 2 23901170 23901170 single base substitution T G intron_variant ESAD-UK 2 23901195 23901195 single base substitution G A intron_variant ESAD-UK 2 23901413 23901413 single base substitution A G intron_variant ESAD-UK 2 23903345 23903345 single base substitution T A intron_variant ESAD-UK 2 23905822 23905822 single base substitution G A intron_variant ESAD-UK 2 23907376 23907376 single base substitution T C missense_variant C189R 565T>C ESAD-UK 2 23907376 23907376 single base substitution T C missense_variant C350R 1048T>C ESAD-UK 2 23907376 23907376 single base substitution T C upstream_gene_variant ESAD-UK 2 23910281 23910281 single base substitution G A intron_variant ESAD-UK 2 23910281 23910281 single base substitution G A upstream_gene_variant ESAD-UK 2 23910828 23910828 single base substitution G A intron_variant ESAD-UK 2 23910828 23910828 single base substitution G A upstream_gene_variant ESAD-UK 2 23910919 23910919 single base substitution C T intron_variant ESAD-UK 2 23910919 23910919 single base substitution C T upstream_gene_variant ESAD-UK 2 23911482 23911482 single base substitution A C intron_variant ESAD-UK 2 23911482 23911482 single base substitution A C upstream_gene_variant ESAD-UK 2 23912940 23912940 single base substitution G A exon_variant ESAD-UK 2 23912940 23912940 single base substitution G A intron_variant ESAD-UK 2 23914038 23914038 single base substitution T A exon_variant ESAD-UK 2 23914038 23914038 single base substitution T A intron_variant ESAD-UK 2 23915429 23915429 single base substitution C T intron_variant ESAD-UK 2 23915862 23915862 single base substitution C T intron_variant ESAD-UK 2 23916318 23916318 single base substitution A T exon_variant ESAD-UK 2 23916318 23916318 single base substitution A T missense_variant S327C 979A>T ESAD-UK 2 23916318 23916318 single base substitution A T missense_variant S488C 1462A>T ESAD-UK 2 23916848 23916848 single base substitution C T intron_variant ESAD-UK 2 23918674 23918674 single base substitution G A exon_variant ESAD-UK 2 23918674 23918674 single base substitution G A missense_variant R414Q 1241G>A ESAD-UK 2 23918674 23918674 single base substitution G A missense_variant R575Q 1724G>A ESAD-UK 2 23923235 23923235 deletion of <=200bp A - downstream_gene_variant ESAD-UK 2 23923235 23923235 deletion of <=200bp A - intron_variant ESAD-UK 2 23924836 23924836 single base substitution C T downstream_gene_variant ESAD-UK 2 23924836 23924836 single base substitution C T intron_variant ESAD-UK 2 23925601 23925601 single base substitution T C downstream_gene_variant ESAD-UK 2 23925601 23925601 single base substitution T C intron_variant ESAD-UK 2 23926021 23926021 single base substitution T A intron_variant ESAD-UK 2 23926730 23926730 single base substitution G T exon_variant ESAD-UK 2 23926730 23926730 single base substitution G T missense_variant C814F 2441G>T ESAD-UK 2 23929528 23929528 single base substitution C T exon_variant ESAD-UK 2 23929528 23929528 single base substitution C T synonymous_variant S874S 2622C>T ESAD-UK 2 23931915 23931915 single base substitution T C downstream_gene_variant ESAD-UK 2 23933941 23933941 single base substitution C A downstream_gene_variant ESAD-UK 2 23934384 23934384 single base substitution C A downstream_gene_variant ESCA-CN 2 23865720 23865720 single base substitution G T exon_variant ESCA-CN 2 23865720 23865720 single base substitution G T stop_gained E153* 457G>T ESCA-CN 2 23865720 23865720 single base substitution G T stop_gained E314* 940G>T ESCA-CN 2 23918662 23918662 single base substitution C T exon_variant ESCA-CN 2 23918662 23918662 single base substitution C T missense_variant T410M 1229C>T ESCA-CN 2 23918662 23918662 single base substitution C T missense_variant T571M 1712C>T ESCA-CN 2 23926653 23926653 single base substitution C T exon_variant ESCA-CN 2 23926653 23926653 single base substitution C T synonymous_variant A788A 2364C>T LAML-KR 2 23683608 23683608 single base substitution A G intron_variant LAML-KR 2 23683643 23683643 single base substitution A G intron_variant LAML-KR 2 23683678 23683678 single base substitution G A intron_variant LAML-KR 2 23803780 23803780 single base substitution G A intron_variant LAML-KR 2 23903582 23903582 single base substitution C T intron_variant LAML-KR 2 23919169 23919169 single base substitution C T intron_variant LAML-KR 2 23934216 23934216 single base substitution T C downstream_gene_variant LICA-FR 2 23611861 23611863 deletion of <=200bp TTT - intron_variant LICA-FR 2 23613732 23613732 single base substitution C T intron_variant LICA-FR 2 23621546 23621546 single base substitution T C intron_variant LICA-FR 2 23643648 23643648 single base substitution C T intron_variant LICA-FR 2 23658771 23658771 deletion of <=200bp T - intron_variant LICA-FR 2 23659152 23659152 insertion of <=200bp - TGTG intron_variant LICA-FR 2 23661805 23661805 single base substitution G T intron_variant LICA-FR 2 23662823 23662823 single base substitution G C intron_variant LICA-FR 2 23662902 23662902 single base substitution T C intron_variant LICA-FR 2 23691107 23691107 single base substitution G T intron_variant LICA-FR 2 23695495 23695495 single base substitution C A intron_variant LICA-FR 2 23695496 23695496 single base substitution T G intron_variant LICA-FR 2 23701673 23701673 single base substitution A T intron_variant LICA-FR 2 23704966 23704966 single base substitution T C intron_variant LICA-FR 2 23707786 23707786 single base substitution A C intron_variant LICA-FR 2 23736276 23736276 single base substitution T C intron_variant LICA-FR 2 23740926 23740926 single base substitution A G intron_variant LICA-FR 2 23757002 23757002 single base substitution A G intron_variant LICA-FR 2 23759789 23759789 insertion of <=200bp - CTCT intron_variant LICA-FR 2 23760288 23760311 deletion of <=200bp ACACACACACACACACACACACAC - intron_variant LICA-FR 2 23796328 23796328 single base substitution A T intron_variant LICA-FR 2 23803553 23803553 single base substitution A G intron_variant LICA-FR 2 23827138 23827138 insertion of <=200bp - TGATTTTT intron_variant LICA-FR 2 23852326 23852326 single base substitution A T intron_variant LICA-FR 2 23876497 23876497 single base substitution A G intron_variant LICA-FR 2 23919574 23919574 single base substitution G T 3_prime_UTR_variant LICA-FR 2 23919574 23919574 single base substitution G T intron_variant LICA-FR 2 23931878 23931878 single base substitution G A downstream_gene_variant LIHC-US 2 23918605 23918605 single base substitution T A exon_variant LIHC-US 2 23918605 23918605 single base substitution T A missense_variant L391Q 1172T>A LIHC-US 2 23918605 23918605 single base substitution T A missense_variant L552Q 1655T>A LIHC-US 2 23918908 23918908 single base substitution C T exon_variant LIHC-US 2 23918908 23918908 single base substitution C T missense_variant P449L 1346C>T LIHC-US 2 23918908 23918908 single base substitution C T missense_variant P610L 1829C>T LINC-JP 2 23610944 23610944 single base substitution T G intron_variant LINC-JP 2 23619627 23619627 single base substitution G T intron_variant LINC-JP 2 23619913 23619913 single base substitution C A intron_variant LINC-JP 2 23620158 23620158 single base substitution A G intron_variant LINC-JP 2 23627230 23627230 single base substitution C A intron_variant LINC-JP 2 23658604 23658604 single base substitution G T intron_variant LINC-JP 2 23666985 23666985 single base substitution A G intron_variant LINC-JP 2 23685884 23685884 single base substitution C A intron_variant LINC-JP 2 23706234 23706234 single base substitution A C intron_variant LINC-JP 2 23716514 23716514 single base substitution A T intron_variant LINC-JP 2 23717010 23717010 single base substitution A G intron_variant LINC-JP 2 23735043 23735043 single base substitution C T intron_variant LINC-JP 2 23746922 23746922 single base substitution C T intron_variant LINC-JP 2 23751109 23751109 deletion of <=200bp A - intron_variant LINC-JP 2 23751109 23751109 deletion of <=200bp A - upstream_gene_variant LINC-JP 2 23760211 23760211 single base substitution G C intron_variant LINC-JP 2 23777991 23777991 deletion of <=200bp C - intron_variant LINC-JP 2 23787330 23787330 single base substitution G T intron_variant LINC-JP 2 23818735 23818735 single base substitution C T intron_variant LINC-JP 2 23821125 23821125 single base substitution G A intron_variant LINC-JP 2 23821127 23821127 single base substitution T A intron_variant LINC-JP 2 23839681 23839681 single base substitution C T intron_variant LINC-JP 2 23849769 23849769 single base substitution G A intron_variant LINC-JP 2 23858503 23858503 single base substitution C A intron_variant LINC-JP 2 23859721 23859721 deletion of <=200bp G - intron_variant LINC-JP 2 23860922 23860922 insertion of <=200bp - T intron_variant LINC-JP 2 23860922 23860922 insertion of <=200bp - T upstream_gene_variant LINC-JP 2 23861864 23861864 single base substitution A G intron_variant LINC-JP 2 23861864 23861864 single base substitution A G upstream_gene_variant LINC-JP 2 23862233 23862233 single base substitution G A intron_variant LINC-JP 2 23862233 23862233 single base substitution G A upstream_gene_variant LINC-JP 2 23864622 23864622 single base substitution G A intron_variant LINC-JP 2 23864622 23864622 single base substitution G A upstream_gene_variant LINC-JP 2 23898725 23898725 single base substitution G A intron_variant LINC-JP 2 23898759 23898759 single base substitution G A intron_variant LINC-JP 2 23901352 23901352 single base substitution C T intron_variant LINC-JP 2 23907211 23907211 single base substitution T A intron_variant LINC-JP 2 23907211 23907211 single base substitution T A upstream_gene_variant LINC-JP 2 23913544 23913544 single base substitution G A exon_variant LINC-JP 2 23913544 23913544 single base substitution G A intron_variant LINC-JP 2 23916504 23916504 single base substitution C T intron_variant LINC-JP 2 23921176 23921176 single base substitution A G downstream_gene_variant LINC-JP 2 23921176 23921176 single base substitution A G intron_variant LINC-JP 2 23929409 23929409 single base substitution C T exon_variant LINC-JP 2 23929409 23929409 single base substitution C T missense_variant P835S 2503C>T LIRI-JP 2 23604567 23604567 single base substitution G A upstream_gene_variant LIRI-JP 2 23610154 23610154 single base substitution C T intron_variant LIRI-JP 2 23610158 23610158 single base substitution A G intron_variant LIRI-JP 2 23610585 23610585 single base substitution T C intron_variant LIRI-JP 2 23611523 23611523 single base substitution A G intron_variant LIRI-JP 2 23612920 23612920 single base substitution T C intron_variant LIRI-JP 2 23613978 23613978 single base substitution A G intron_variant LIRI-JP 2 23615082 23615082 single base substitution A G intron_variant LIRI-JP 2 23617011 23617011 single base substitution C T intron_variant LIRI-JP 2 23617880 23617880 single base substitution G T intron_variant LIRI-JP 2 23619015 23619015 single base substitution G C intron_variant LIRI-JP 2 23619497 23619497 single base substitution C G intron_variant LIRI-JP 2 23619740 23619740 single base substitution C G intron_variant LIRI-JP 2 23619763 23619763 single base substitution C A intron_variant LIRI-JP 2 23619794 23619794 single base substitution A G intron_variant LIRI-JP 2 23619872 23619872 single base substitution C T intron_variant LIRI-JP 2 23619888 23619888 single base substitution C G intron_variant LIRI-JP 2 23621282 23621282 single base substitution A G intron_variant LIRI-JP 2 23622316 23622316 single base substitution G A intron_variant LIRI-JP 2 23624380 23624380 single base substitution C G intron_variant LIRI-JP 2 23624457 23624457 single base substitution G C intron_variant LIRI-JP 2 23624708 23624708 single base substitution C A intron_variant LIRI-JP 2 23626852 23626852 single base substitution C T intron_variant LIRI-JP 2 23627488 23627488 single base substitution G T intron_variant LIRI-JP 2 23628005 23628005 single base substitution A G intron_variant LIRI-JP 2 23629470 23629470 single base substitution T C intron_variant LIRI-JP 2 23629482 23629482 single base substitution G A intron_variant LIRI-JP 2 23631190 23631190 single base substitution A G intron_variant LIRI-JP 2 23631208 23631208 single base substitution C A intron_variant LIRI-JP 2 23635401 23635401 single base substitution C T intron_variant LIRI-JP 2 23635975 23635975 single base substitution A G intron_variant LIRI-JP 2 23639384 23639384 single base substitution A G intron_variant LIRI-JP 2 23641352 23641352 single base substitution G A intron_variant LIRI-JP 2 23642092 23642092 single base substitution A T intron_variant LIRI-JP 2 23642596 23642596 single base substitution G A intron_variant LIRI-JP 2 23648248 23648248 single base substitution C T intron_variant LIRI-JP 2 23650422 23650422 single base substitution C T intron_variant LIRI-JP 2 23650521 23650521 single base substitution C T intron_variant LIRI-JP 2 23650798 23650798 deletion of <=200bp G - intron_variant LIRI-JP 2 23651675 23651675 single base substitution G A intron_variant LIRI-JP 2 23652275 23652275 single base substitution C A intron_variant LIRI-JP 2 23656144 23656144 deletion of <=200bp T - intron_variant LIRI-JP 2 23656811 23656811 single base substitution A G intron_variant LIRI-JP 2 23657905 23657905 single base substitution C T intron_variant LIRI-JP 2 23659040 23659040 single base substitution G A intron_variant LIRI-JP 2 23659974 23659974 single base substitution C A intron_variant LIRI-JP 2 23661119 23661119 single base substitution G T intron_variant LIRI-JP 2 23662568 23662568 single base substitution C T intron_variant LIRI-JP 2 23667236 23667236 single base substitution C T intron_variant LIRI-JP 2 23668638 23668638 single base substitution T C intron_variant LIRI-JP 2 23669643 23669643 single base substitution A G intron_variant LIRI-JP 2 23670213 23670213 single base substitution C T intron_variant LIRI-JP 2 23671140 23671140 single base substitution A T intron_variant LIRI-JP 2 23676227 23676227 single base substitution G A intron_variant LIRI-JP 2 23676854 23676855 deletion of <=200bp AC - intron_variant LIRI-JP 2 23677479 23677479 single base substitution G A intron_variant LIRI-JP 2 23677968 23677968 single base substitution C T intron_variant LIRI-JP 2 23684407 23684407 single base substitution C T intron_variant LIRI-JP 2 23684659 23684659 single base substitution A T intron_variant LIRI-JP 2 23685893 23685893 single base substitution T C intron_variant LIRI-JP 2 23689077 23689077 single base substitution A G intron_variant LIRI-JP 2 23689881 23689881 single base substitution G T intron_variant LIRI-JP 2 23689882 23689882 single base substitution G T intron_variant LIRI-JP 2 23690579 23690579 single base substitution G T intron_variant LIRI-JP 2 23692106 23692106 single base substitution G A intron_variant LIRI-JP 2 23692924 23692924 single base substitution A G intron_variant LIRI-JP 2 23693012 23693012 single base substitution A G intron_variant LIRI-JP 2 23694600 23694600 single base substitution A G intron_variant LIRI-JP 2 23695162 23695162 single base substitution G A intron_variant LIRI-JP 2 23695461 23695461 single base substitution G A intron_variant LIRI-JP 2 23702321 23702321 single base substitution C T intron_variant LIRI-JP 2 23703011 23703011 single base substitution A G intron_variant LIRI-JP 2 23706332 23706332 single base substitution A T intron_variant LIRI-JP 2 23706622 23706622 single base substitution G A intron_variant LIRI-JP 2 23707493 23707493 single base substitution C T intron_variant LIRI-JP 2 23709800 23709800 single base substitution A G intron_variant LIRI-JP 2 23710988 23710988 single base substitution C T intron_variant LIRI-JP 2 23711438 23711438 single base substitution A G intron_variant LIRI-JP 2 23714038 23714038 single base substitution C A intron_variant LIRI-JP 2 23714438 23714438 insertion of <=200bp - C intron_variant LIRI-JP 2 23715757 23715757 single base substitution A T intron_variant LIRI-JP 2 23718580 23718580 single base substitution G A intron_variant LIRI-JP 2 23719185 23719185 single base substitution T C intron_variant LIRI-JP 2 23719643 23719643 single base substitution A G intron_variant LIRI-JP 2 23720119 23720119 single base substitution T C intron_variant LIRI-JP 2 23722432 23722432 single base substitution C T intron_variant LIRI-JP 2 23728339 23728339 single base substitution C T intron_variant LIRI-JP 2 23729662 23729662 single base substitution C T intron_variant LIRI-JP 2 23730901 23730901 single base substitution C G intron_variant LIRI-JP 2 23732460 23732460 single base substitution A G intron_variant LIRI-JP 2 23733314 23733314 single base substitution T C intron_variant LIRI-JP 2 23733537 23733537 single base substitution A G intron_variant LIRI-JP 2 23737261 23737261 single base substitution G A intron_variant LIRI-JP 2 23739038 23739038 single base substitution C T intron_variant LIRI-JP 2 23742283 23742283 single base substitution C T intron_variant LIRI-JP 2 23742414 23742414 single base substitution A G intron_variant LIRI-JP 2 23742436 23742436 single base substitution G T intron_variant LIRI-JP 2 23743948 23743948 single base substitution T C intron_variant LIRI-JP 2 23744239 23744239 single base substitution T C intron_variant LIRI-JP 2 23748039 23748039 deletion of <=200bp C - intron_variant LIRI-JP 2 23750941 23750941 single base substitution A G intron_variant LIRI-JP 2 23750941 23750941 single base substitution A G upstream_gene_variant LIRI-JP 2 23751566 23751566 single base substitution T C intron_variant LIRI-JP 2 23751566 23751566 single base substitution T C upstream_gene_variant LIRI-JP 2 23751632 23751632 single base substitution T C intron_variant LIRI-JP 2 23751632 23751632 single base substitution T C upstream_gene_variant LIRI-JP 2 23751652 23751652 single base substitution C G intron_variant LIRI-JP 2 23751652 23751652 single base substitution C G upstream_gene_variant LIRI-JP 2 23752110 23752110 single base substitution G T intron_variant LIRI-JP 2 23752110 23752110 single base substitution G T upstream_gene_variant LIRI-JP 2 23752841 23752841 single base substitution A T intron_variant LIRI-JP 2 23752841 23752841 single base substitution A T upstream_gene_variant LIRI-JP 2 23753074 23753074 single base substitution G T intron_variant LIRI-JP 2 23753074 23753074 single base substitution G T upstream_gene_variant LIRI-JP 2 23754490 23754490 deletion of <=200bp A - intron_variant LIRI-JP 2 23754490 23754490 deletion of <=200bp A - upstream_gene_variant LIRI-JP 2 23756166 23756166 single base substitution C T intron_variant LIRI-JP 2 23759405 23759405 single base substitution G A intron_variant LIRI-JP 2 23762241 23762241 single base substitution A G intron_variant LIRI-JP 2 23765633 23765633 insertion of <=200bp - G intron_variant LIRI-JP 2 23765989 23765989 single base substitution T C intron_variant LIRI-JP 2 23767176 23767176 single base substitution G T intron_variant LIRI-JP 2 23767544 23767544 single base substitution C T intron_variant LIRI-JP 2 23768544 23768544 single base substitution G T intron_variant LIRI-JP 2 23769979 23769979 single base substitution A C intron_variant LIRI-JP 2 23771701 23771701 single base substitution C T intron_variant LIRI-JP 2 23773734 23773734 single base substitution A G intron_variant LIRI-JP 2 23778320 23778320 single base substitution C T intron_variant LIRI-JP 2 23778895 23778895 single base substitution C T intron_variant LIRI-JP 2 23779134 23779134 single base substitution G T intron_variant LIRI-JP 2 23779180 23779180 single base substitution G A intron_variant LIRI-JP 2 23782341 23782341 single base substitution G A intron_variant LIRI-JP 2 23784303 23784303 single base substitution G A intron_variant LIRI-JP 2 23784332 23784332 single base substitution G A intron_variant LIRI-JP 2 23784939 23784939 single base substitution A G intron_variant LIRI-JP 2 23786548 23786548 single base substitution C T intron_variant LIRI-JP 2 23787382 23787382 single base substitution G T intron_variant LIRI-JP 2 23789017 23789017 single base substitution T A intron_variant LIRI-JP 2 23790362 23790362 single base substitution C T intron_variant LIRI-JP 2 23790466 23790466 deletion of <=200bp C - intron_variant LIRI-JP 2 23792163 23792163 single base substitution A G intron_variant LIRI-JP 2 23796035 23796036 deletion of <=200bp TC - intron_variant LIRI-JP 2 23796152 23796152 insertion of <=200bp - T intron_variant LIRI-JP 2 23796453 23796453 single base substitution C T intron_variant LIRI-JP 2 23800994 23800994 single base substitution G C intron_variant LIRI-JP 2 23802478 23802478 single base substitution A G intron_variant LIRI-JP 2 23805277 23805277 single base substitution C G intron_variant LIRI-JP 2 23806228 23806228 single base substitution A T intron_variant LIRI-JP 2 23806666 23806666 single base substitution A G intron_variant LIRI-JP 2 23807515 23807515 single base substitution G A intron_variant LIRI-JP 2 23808624 23808624 single base substitution G T intron_variant LIRI-JP 2 23809525 23809525 single base substitution C T intron_variant LIRI-JP 2 23810968 23810968 single base substitution G A intron_variant LIRI-JP 2 23811516 23811516 single base substitution T A intron_variant LIRI-JP 2 23813854 23813854 single base substitution A G intron_variant LIRI-JP 2 23815807 23815807 single base substitution T A intron_variant LIRI-JP 2 23817846 23817846 single base substitution C T intron_variant LIRI-JP 2 23818385 23818385 single base substitution C T intron_variant LIRI-JP 2 23819329 23819329 single base substitution A C intron_variant LIRI-JP 2 23819844 23819844 single base substitution G A intron_variant LIRI-JP 2 23823524 23823524 single base substitution G T intron_variant LIRI-JP 2 23826062 23826062 single base substitution C T intron_variant LIRI-JP 2 23827669 23827669 single base substitution G A intron_variant LIRI-JP 2 23828665 23828665 single base substitution G T intron_variant LIRI-JP 2 23829676 23829676 single base substitution C T intron_variant LIRI-JP 2 23830437 23830437 single base substitution C A intron_variant LIRI-JP 2 23832104 23832104 single base substitution C T intron_variant LIRI-JP 2 23833051 23833051 single base substitution C G intron_variant LIRI-JP 2 23835629 23835629 single base substitution G A intron_variant LIRI-JP 2 23836344 23836344 single base substitution A G intron_variant LIRI-JP 2 23836426 23836426 single base substitution G A intron_variant LIRI-JP 2 23836529 23836529 single base substitution G T intron_variant LIRI-JP 2 23837181 23837181 single base substitution C A intron_variant LIRI-JP 2 23837253 23837253 single base substitution A G intron_variant LIRI-JP 2 23837945 23837945 single base substitution G C intron_variant LIRI-JP 2 23839834 23839834 single base substitution C T intron_variant LIRI-JP 2 23839835 23839835 single base substitution G A intron_variant LIRI-JP 2 23840073 23840073 single base substitution G A intron_variant LIRI-JP 2 23840612 23840612 single base substitution G A intron_variant LIRI-JP 2 23841520 23841520 single base substitution G A intron_variant LIRI-JP 2 23842522 23842523 deletion of <=200bp GT - intron_variant LIRI-JP 2 23843176 23843176 single base substitution A G intron_variant LIRI-JP 2 23845437 23845437 single base substitution C T intron_variant LIRI-JP 2 23848488 23848488 single base substitution A G intron_variant LIRI-JP 2 23848511 23848511 single base substitution G T intron_variant LIRI-JP 2 23849943 23849943 single base substitution G T intron_variant LIRI-JP 2 23851292 23851292 single base substitution G A intron_variant LIRI-JP 2 23852346 23852346 single base substitution G A intron_variant LIRI-JP 2 23852461 23852461 single base substitution G A intron_variant LIRI-JP 2 23852819 23852819 single base substitution C T intron_variant LIRI-JP 2 23853310 23853310 single base substitution A G intron_variant LIRI-JP 2 23853861 23853861 single base substitution T C intron_variant LIRI-JP 2 23854933 23854933 single base substitution G C intron_variant LIRI-JP 2 23856030 23856030 single base substitution T C intron_variant LIRI-JP 2 23859810 23859810 single base substitution G A intron_variant LIRI-JP 2 23860905 23860905 single base substitution C T intron_variant LIRI-JP 2 23860905 23860905 single base substitution C T upstream_gene_variant LIRI-JP 2 23862580 23862580 single base substitution C G intron_variant LIRI-JP 2 23862580 23862580 single base substitution C G upstream_gene_variant LIRI-JP 2 23864664 23864664 single base substitution G A intron_variant LIRI-JP 2 23864664 23864664 single base substitution G A upstream_gene_variant LIRI-JP 2 23865558 23865558 deletion of <=200bp C - exon_variant LIRI-JP 2 23865558 23865558 deletion of <=200bp C - frameshift_variant P260 LIRI-JP 2 23865558 23865558 deletion of <=200bp C - frameshift_variant P99 LIRI-JP 2 23866213 23866213 single base substitution G A exon_variant LIRI-JP 2 23866213 23866213 single base substitution G A intron_variant LIRI-JP 2 23868607 23868607 single base substitution T C downstream_gene_variant LIRI-JP 2 23868607 23868607 single base substitution T C intron_variant LIRI-JP 2 23876213 23876213 single base substitution A G intron_variant LIRI-JP 2 23878771 23878771 single base substitution C T intron_variant LIRI-JP 2 23878983 23878983 single base substitution G T intron_variant LIRI-JP 2 23879242 23879242 single base substitution G T intron_variant LIRI-JP 2 23881152 23881152 single base substitution G C intron_variant LIRI-JP 2 23883448 23883448 single base substitution A G intron_variant LIRI-JP 2 23884347 23884347 single base substitution C G intron_variant LIRI-JP 2 23885959 23885959 single base substitution C T intron_variant LIRI-JP 2 23890192 23890192 single base substitution G A intron_variant LIRI-JP 2 23894730 23894730 single base substitution C T intron_variant LIRI-JP 2 23897904 23897904 single base substitution A G intron_variant LIRI-JP 2 23901026 23901026 single base substitution T G intron_variant LIRI-JP 2 23906378 23906378 single base substitution C T intron_variant LIRI-JP 2 23906438 23906438 single base substitution A T intron_variant LIRI-JP 2 23910781 23910781 single base substitution G C intron_variant LIRI-JP 2 23910781 23910781 single base substitution G C upstream_gene_variant LIRI-JP 2 23910933 23910933 single base substitution G A intron_variant LIRI-JP 2 23910933 23910933 single base substitution G A upstream_gene_variant LIRI-JP 2 23912576 23912576 single base substitution A G exon_variant LIRI-JP 2 23912576 23912576 single base substitution A G intron_variant LIRI-JP 2 23917941 23917941 single base substitution A G intron_variant LIRI-JP 2 23921096 23921096 single base substitution A T downstream_gene_variant LIRI-JP 2 23921096 23921096 single base substitution A T intron_variant LIRI-JP 2 23921173 23921180 deletion of <=200bp TGCAGGCT - downstream_gene_variant LIRI-JP 2 23921173 23921180 deletion of <=200bp TGCAGGCT - intron_variant LIRI-JP 2 23922421 23922421 deletion of <=200bp T - downstream_gene_variant LIRI-JP 2 23922421 23922421 deletion of <=200bp T - intron_variant LIRI-JP 2 23923435 23923435 single base substitution G T downstream_gene_variant LIRI-JP 2 23923435 23923435 single base substitution G T intron_variant LIRI-JP 2 23930520 23930520 single base substitution C A 3_prime_UTR_variant LIRI-JP 2 23930520 23930520 single base substitution C A exon_variant LIRI-JP 2 23934846 23934846 single base substitution G T downstream_gene_variant LUSC-KR 2 23605781 23605781 single base substitution G A upstream_gene_variant LUSC-KR 2 23607335 23607335 single base substitution C A upstream_gene_variant LUSC-KR 2 23607738 23607738 single base substitution C T upstream_gene_variant LUSC-KR 2 23609172 23609172 single base substitution C T intron_variant LUSC-KR 2 23611135 23611135 single base substitution G C intron_variant LUSC-KR 2 23611866 23611866 single base substitution T C intron_variant LUSC-KR 2 23613541 23613541 single base substitution G T intron_variant LUSC-KR 2 23616193 23616193 single base substitution A C intron_variant LUSC-KR 2 23618119 23618119 single base substitution T G intron_variant LUSC-KR 2 23623885 23623885 single base substitution G C intron_variant LUSC-KR 2 23627107 23627107 single base substitution G A intron_variant LUSC-KR 2 23627841 23627841 single base substitution G C intron_variant LUSC-KR 2 23633259 23633259 single base substitution G C intron_variant LUSC-KR 2 23635336 23635336 single base substitution G T intron_variant LUSC-KR 2 23636449 23636449 single base substitution C A intron_variant LUSC-KR 2 23638756 23638756 single base substitution A T intron_variant LUSC-KR 2 23638760 23638760 single base substitution G T intron_variant LUSC-KR 2 23642111 23642111 single base substitution C A intron_variant LUSC-KR 2 23642983 23642983 single base substitution G T intron_variant LUSC-KR 2 23657186 23657186 single base substitution C T intron_variant LUSC-KR 2 23658264 23658264 single base substitution G T intron_variant LUSC-KR 2 23663248 23663248 single base substitution A G intron_variant LUSC-KR 2 23663483 23663483 single base substitution G C intron_variant LUSC-KR 2 23664140 23664140 single base substitution A T intron_variant LUSC-KR 2 23665627 23665627 single base substitution G T intron_variant LUSC-KR 2 23667094 23667094 single base substitution T A intron_variant LUSC-KR 2 23667545 23667545 single base substitution G T intron_variant LUSC-KR 2 23675061 23675061 single base substitution T C intron_variant LUSC-KR 2 23683527 23683527 single base substitution C T intron_variant LUSC-KR 2 23687711 23687711 single base substitution A C intron_variant LUSC-KR 2 23688710 23688710 single base substitution G T intron_variant LUSC-KR 2 23688711 23688711 single base substitution G T intron_variant LUSC-KR 2 23690544 23690544 single base substitution G C intron_variant LUSC-KR 2 23690950 23690950 single base substitution C G intron_variant LUSC-KR 2 23692125 23692125 single base substitution C T intron_variant LUSC-KR 2 23692384 23692384 single base substitution G A intron_variant LUSC-KR 2 23693141 23693141 single base substitution C G intron_variant LUSC-KR 2 23694733 23694733 single base substitution G C intron_variant LUSC-KR 2 23696213 23696213 single base substitution G C intron_variant LUSC-KR 2 23696242 23696242 single base substitution G C intron_variant LUSC-KR 2 23699894 23699894 single base substitution G A intron_variant LUSC-KR 2 23704460 23704460 single base substitution T A intron_variant LUSC-KR 2 23711176 23711176 single base substitution G C intron_variant LUSC-KR 2 23711414 23711414 single base substitution G T intron_variant LUSC-KR 2 23712425 23712425 single base substitution A T intron_variant LUSC-KR 2 23719522 23719522 single base substitution C T intron_variant LUSC-KR 2 23725959 23725959 single base substitution G T intron_variant LUSC-KR 2 23726848 23726848 single base substitution A G intron_variant LUSC-KR 2 23727855 23727855 single base substitution C A intron_variant LUSC-KR 2 23729013 23729013 single base substitution C A intron_variant LUSC-KR 2 23729287 23729287 single base substitution G A intron_variant LUSC-KR 2 23733972 23733972 single base substitution T C intron_variant LUSC-KR 2 23734597 23734597 single base substitution C T intron_variant LUSC-KR 2 23735863 23735863 single base substitution C T intron_variant LUSC-KR 2 23753045 23753045 single base substitution G C intron_variant LUSC-KR 2 23753045 23753045 single base substitution G C upstream_gene_variant LUSC-KR 2 23754714 23754714 single base substitution C G intron_variant LUSC-KR 2 23754714 23754714 single base substitution C G upstream_gene_variant LUSC-KR 2 23759790 23759790 single base substitution T A intron_variant LUSC-KR 2 23759800 23759800 single base substitution C T intron_variant LUSC-KR 2 23764450 23764450 single base substitution C A intron_variant LUSC-KR 2 23772249 23772249 single base substitution C T intron_variant LUSC-KR 2 23775166 23775166 single base substitution G C intron_variant LUSC-KR 2 23775893 23775893 single base substitution G C intron_variant LUSC-KR 2 23776545 23776545 single base substitution G T intron_variant LUSC-KR 2 23776559 23776559 single base substitution A G intron_variant LUSC-KR 2 23776693 23776693 single base substitution C T intron_variant LUSC-KR 2 23777338 23777338 single base substitution C T intron_variant LUSC-KR 2 23777347 23777347 single base substitution C G intron_variant LUSC-KR 2 23778052 23778052 single base substitution G T intron_variant LUSC-KR 2 23781978 23781978 single base substitution G A intron_variant LUSC-KR 2 23782552 23782552 single base substitution G C intron_variant LUSC-KR 2 23782799 23782799 single base substitution C T intron_variant LUSC-KR 2 23786010 23786010 single base substitution C T intron_variant LUSC-KR 2 23787293 23787293 single base substitution C T intron_variant LUSC-KR 2 23790292 23790292 single base substitution C A intron_variant LUSC-KR 2 23795102 23795102 single base substitution G T intron_variant LUSC-KR 2 23795213 23795213 single base substitution A G intron_variant LUSC-KR 2 23801920 23801920 single base substitution C G intron_variant LUSC-KR 2 23802520 23802520 single base substitution G A intron_variant LUSC-KR 2 23809256 23809256 single base substitution G T intron_variant LUSC-KR 2 23809670 23809670 single base substitution C G intron_variant LUSC-KR 2 23815482 23815482 single base substitution C A intron_variant LUSC-KR 2 23818519 23818519 single base substitution G T intron_variant LUSC-KR 2 23818520 23818520 single base substitution G T intron_variant LUSC-KR 2 23819893 23819893 single base substitution C T intron_variant LUSC-KR 2 23820177 23820177 single base substitution A G intron_variant LUSC-KR 2 23823287 23823287 single base substitution T G intron_variant LUSC-KR 2 23823848 23823848 single base substitution G C intron_variant LUSC-KR 2 23830467 23830467 single base substitution G T intron_variant LUSC-KR 2 23832040 23832040 single base substitution G A intron_variant LUSC-KR 2 23832452 23832452 single base substitution G T intron_variant LUSC-KR 2 23833999 23833999 single base substitution G C intron_variant LUSC-KR 2 23835231 23835231 single base substitution G C intron_variant LUSC-KR 2 23836228 23836228 single base substitution G A intron_variant LUSC-KR 2 23838837 23838837 single base substitution G C intron_variant LUSC-KR 2 23839732 23839732 single base substitution G A intron_variant LUSC-KR 2 23841111 23841111 single base substitution G C intron_variant LUSC-KR 2 23843810 23843810 single base substitution G A intron_variant LUSC-KR 2 23845620 23845620 single base substitution G T intron_variant LUSC-KR 2 23847732 23847732 single base substitution G C intron_variant LUSC-KR 2 23848290 23848290 single base substitution G T intron_variant LUSC-KR 2 23850727 23850727 single base substitution T A intron_variant LUSC-KR 2 23850887 23850887 single base substitution G C intron_variant LUSC-KR 2 23853326 23853326 single base substitution C A intron_variant LUSC-KR 2 23858640 23858640 single base substitution A T intron_variant LUSC-KR 2 23861468 23861468 single base substitution A G intron_variant LUSC-KR 2 23861468 23861468 single base substitution A G upstream_gene_variant LUSC-KR 2 23861958 23861958 single base substitution G T intron_variant LUSC-KR 2 23861958 23861958 single base substitution G T upstream_gene_variant LUSC-KR 2 23862187 23862187 single base substitution C G intron_variant LUSC-KR 2 23862187 23862187 single base substitution C G upstream_gene_variant LUSC-KR 2 23863824 23863824 single base substitution G A intron_variant LUSC-KR 2 23863824 23863824 single base substitution G A upstream_gene_variant LUSC-KR 2 23864052 23864052 single base substitution A T intron_variant LUSC-KR 2 23864052 23864052 single base substitution A T upstream_gene_variant LUSC-KR 2 23866309 23866309 single base substitution A T exon_variant LUSC-KR 2 23866309 23866309 single base substitution A T intron_variant LUSC-KR 2 23866951 23866951 single base substitution C A exon_variant LUSC-KR 2 23866951 23866951 single base substitution C A intron_variant LUSC-KR 2 23870234 23870234 single base substitution A C downstream_gene_variant LUSC-KR 2 23870234 23870234 single base substitution A C intron_variant LUSC-KR 2 23870272 23870272 single base substitution G T downstream_gene_variant LUSC-KR 2 23870272 23870272 single base substitution G T intron_variant LUSC-KR 2 23870760 23870760 single base substitution A G downstream_gene_variant LUSC-KR 2 23870760 23870760 single base substitution A G intron_variant LUSC-KR 2 23872495 23872495 single base substitution A T intron_variant LUSC-KR 2 23873165 23873165 single base substitution G C intron_variant LUSC-KR 2 23874189 23874189 single base substitution G T intron_variant LUSC-KR 2 23876735 23876735 single base substitution G A intron_variant LUSC-KR 2 23877772 23877772 single base substitution C A intron_variant LUSC-KR 2 23881560 23881560 single base substitution C G intron_variant LUSC-KR 2 23884416 23884416 single base substitution C A intron_variant LUSC-KR 2 23897114 23897114 single base substitution T C intron_variant LUSC-KR 2 23899814 23899814 single base substitution G A intron_variant LUSC-KR 2 23902796 23902796 single base substitution G T intron_variant LUSC-KR 2 23911273 23911273 single base substitution C T intron_variant LUSC-KR 2 23911273 23911273 single base substitution C T upstream_gene_variant LUSC-KR 2 23914246 23914246 single base substitution G C exon_variant LUSC-KR 2 23914246 23914246 single base substitution G C intron_variant LUSC-KR 2 23916793 23916793 single base substitution G C intron_variant LUSC-KR 2 23917488 23917488 single base substitution G T intron_variant LUSC-KR 2 23918334 23918334 single base substitution T C intron_variant LUSC-KR 2 23919169 23919169 single base substitution C T intron_variant LUSC-KR 2 23921876 23921876 single base substitution C A downstream_gene_variant LUSC-KR 2 23921876 23921876 single base substitution C A intron_variant LUSC-KR 2 23926233 23926233 single base substitution C T exon_variant LUSC-KR 2 23926233 23926233 single base substitution C T synonymous_variant I761I 2283C>T LUSC-KR 2 23927689 23927689 single base substitution G T intron_variant LUSC-KR 2 23932410 23932410 single base substitution C G downstream_gene_variant LUSC-KR 2 23934216 23934216 single base substitution T C downstream_gene_variant MALY-DE 2 23603837 23603837 single base substitution T C upstream_gene_variant MALY-DE 2 23605483 23605484 deletion of <=200bp AG - upstream_gene_variant MALY-DE 2 23609212 23609212 single base substitution C G intron_variant MALY-DE 2 23610603 23610603 single base substitution T C intron_variant MALY-DE 2 23615455 23615455 single base substitution A T intron_variant MALY-DE 2 23622431 23622431 single base substitution C T intron_variant MALY-DE 2 23626262 23626262 single base substitution G T intron_variant MALY-DE 2 23626648 23626648 single base substitution G C intron_variant MALY-DE 2 23627948 23627948 single base substitution G C intron_variant MALY-DE 2 23628304 23628304 single base substitution T A intron_variant MALY-DE 2 23638522 23638522 single base substitution T G intron_variant MALY-DE 2 23647957 23647960 deletion of <=200bp TCTT - intron_variant MALY-DE 2 23650436 23650436 single base substitution C A intron_variant MALY-DE 2 23655667 23655667 single base substitution G T intron_variant MALY-DE 2 23656611 23656611 single base substitution T G intron_variant MALY-DE 2 23661764 23661764 single base substitution T A intron_variant MALY-DE 2 23664390 23664390 deletion of <=200bp A - intron_variant MALY-DE 2 23666787 23666787 single base substitution T G intron_variant MALY-DE 2 23667762 23667762 single base substitution A G intron_variant MALY-DE 2 23670896 23670896 single base substitution A T intron_variant MALY-DE 2 23670954 23670954 single base substitution A T intron_variant MALY-DE 2 23676410 23676410 single base substitution G A intron_variant MALY-DE 2 23678180 23678180 single base substitution C A intron_variant MALY-DE 2 23679243 23679243 single base substitution C T intron_variant MALY-DE 2 23681636 23681636 single base substitution A C intron_variant MALY-DE 2 23687896 23687896 single base substitution T C intron_variant MALY-DE 2 23693264 23693264 single base substitution G C intron_variant MALY-DE 2 23695579 23695579 single base substitution A C intron_variant MALY-DE 2 23695580 23695580 single base substitution T G intron_variant MALY-DE 2 23695769 23695769 single base substitution T A intron_variant MALY-DE 2 23697061 23697061 single base substitution C T intron_variant MALY-DE 2 23703577 23703577 single base substitution C A intron_variant MALY-DE 2 23713827 23713827 insertion of <=200bp - T intron_variant MALY-DE 2 23717943 23717943 single base substitution G A intron_variant MALY-DE 2 23719899 23719899 single base substitution A G intron_variant MALY-DE 2 23720899 23720899 single base substitution T C intron_variant MALY-DE 2 23725134 23725134 single base substitution C A intron_variant MALY-DE 2 23728964 23728964 single base substitution A G intron_variant MALY-DE 2 23729518 23729518 single base substitution A C intron_variant MALY-DE 2 23732781 23732781 single base substitution G A intron_variant MALY-DE 2 23741329 23741329 single base substitution C T intron_variant MALY-DE 2 23757741 23757741 single base substitution C A intron_variant MALY-DE 2 23759642 23759642 single base substitution T C intron_variant MALY-DE 2 23764348 23764348 single base substitution T G intron_variant MALY-DE 2 23772362 23772362 single base substitution C T intron_variant MALY-DE 2 23772706 23772706 single base substitution C T intron_variant MALY-DE 2 23777018 23777018 single base substitution G A intron_variant MALY-DE 2 23777323 23777323 single base substitution G A intron_variant MALY-DE 2 23783337 23783337 single base substitution C T intron_variant MALY-DE 2 23788884 23788884 single base substitution C A intron_variant MALY-DE 2 23799175 23799180 deletion of <=200bp AAAAAA - intron_variant MALY-DE 2 23801206 23801206 single base substitution C T intron_variant MALY-DE 2 23804999 23804999 single base substitution G A intron_variant MALY-DE 2 23805471 23805471 single base substitution G A intron_variant MALY-DE 2 23806305 23806305 single base substitution C T intron_variant MALY-DE 2 23808896 23808896 single base substitution A T intron_variant MALY-DE 2 23813241 23813241 single base substitution C T intron_variant MALY-DE 2 23820669 23820669 single base substitution G T intron_variant MALY-DE 2 23821432 23821432 single base substitution A G intron_variant MALY-DE 2 23830355 23830355 single base substitution A T intron_variant MALY-DE 2 23834411 23834411 single base substitution T G intron_variant MALY-DE 2 23838098 23838098 single base substitution T C intron_variant MALY-DE 2 23838378 23838378 single base substitution C T intron_variant MALY-DE 2 23850727 23850727 single base substitution T A intron_variant MALY-DE 2 23850999 23850999 single base substitution C T intron_variant MALY-DE 2 23853348 23853348 insertion of <=200bp - T intron_variant MALY-DE 2 23856010 23856010 single base substitution G T intron_variant MALY-DE 2 23858074 23858074 single base substitution G A intron_variant MALY-DE 2 23859915 23859915 single base substitution C T intron_variant MALY-DE 2 23860643 23860643 single base substitution T A intron_variant MALY-DE 2 23860643 23860643 single base substitution T A upstream_gene_variant MALY-DE 2 23860922 23860922 deletion of <=200bp T - intron_variant MALY-DE 2 23860922 23860922 deletion of <=200bp T - upstream_gene_variant MALY-DE 2 23861887 23861887 single base substitution T A intron_variant MALY-DE 2 23861887 23861887 single base substitution T A upstream_gene_variant MALY-DE 2 23865483 23865483 single base substitution G A exon_variant MALY-DE 2 23865483 23865483 single base substitution G A missense_variant V235M 703G>A MALY-DE 2 23865483 23865483 single base substitution G A missense_variant V74M 220G>A MALY-DE 2 23873430 23873430 single base substitution C A intron_variant MALY-DE 2 23888365 23888365 insertion of <=200bp - G intron_variant MALY-DE 2 23888369 23888371 deletion of <=200bp CTT - intron_variant MALY-DE 2 23893583 23893583 single base substitution C T intron_variant MALY-DE 2 23914548 23914548 single base substitution G A exon_variant MALY-DE 2 23914548 23914548 single base substitution G A missense_variant V201M 601G>A MALY-DE 2 23914548 23914548 single base substitution G A missense_variant V362M 1084G>A MALY-DE 2 23931919 23931919 insertion of <=200bp - T downstream_gene_variant MELA-AU 2 23603276 23603276 single base substitution C T upstream_gene_variant MELA-AU 2 23603805 23603805 single base substitution G A upstream_gene_variant MELA-AU 2 23604020 23604020 single base substitution T C upstream_gene_variant MELA-AU 2 23604515 23604515 single base substitution A G upstream_gene_variant MELA-AU 2 23605155 23605155 single base substitution C T upstream_gene_variant MELA-AU 2 23605539 23605539 single base substitution G A upstream_gene_variant MELA-AU 2 23605572 23605572 single base substitution A C upstream_gene_variant MELA-AU 2 23605673 23605673 single base substitution C T upstream_gene_variant MELA-AU 2 23606176 23606176 single base substitution C T upstream_gene_variant MELA-AU 2 23606430 23606430 single base substitution C T upstream_gene_variant MELA-AU 2 23606554 23606554 single base substitution C T upstream_gene_variant MELA-AU 2 23606740 23606740 single base substitution C T upstream_gene_variant MELA-AU 2 23606806 23606806 single base substitution G A upstream_gene_variant MELA-AU 2 23609522 23609523 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 23610207 23610207 single base substitution G A intron_variant MELA-AU 2 23610486 23610486 single base substitution C A intron_variant MELA-AU 2 23610799 23610799 single base substitution A T intron_variant MELA-AU 2 23610931 23610931 single base substitution C T intron_variant MELA-AU 2 23611603 23611603 single base substitution C T intron_variant MELA-AU 2 23611811 23611811 single base substitution C T intron_variant MELA-AU 2 23611944 23611944 single base substitution G A intron_variant MELA-AU 2 23612843 23612843 single base substitution A G intron_variant MELA-AU 2 23613783 23613783 single base substitution C T intron_variant MELA-AU 2 23613967 23613967 single base substitution C T intron_variant MELA-AU 2 23614572 23614572 single base substitution C T intron_variant MELA-AU 2 23614821 23614821 single base substitution G A intron_variant MELA-AU 2 23615446 23615446 single base substitution C T intron_variant MELA-AU 2 23616147 23616147 single base substitution C T intron_variant MELA-AU 2 23616483 23616483 single base substitution T C intron_variant MELA-AU 2 23616925 23616925 single base substitution T G intron_variant MELA-AU 2 23617330 23617330 single base substitution C T intron_variant MELA-AU 2 23617522 23617522 single base substitution C T intron_variant MELA-AU 2 23617961 23617961 single base substitution C T intron_variant MELA-AU 2 23618075 23618075 single base substitution C T intron_variant MELA-AU 2 23618147 23618148 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 23618159 23618159 single base substitution T C intron_variant MELA-AU 2 23618808 23618808 single base substitution C T intron_variant MELA-AU 2 23619146 23619146 single base substitution C T intron_variant MELA-AU 2 23619418 23619418 single base substitution C T intron_variant MELA-AU 2 23619541 23619541 single base substitution C T intron_variant MELA-AU 2 23619614 23619614 single base substitution C T intron_variant MELA-AU 2 23620104 23620104 single base substitution C T intron_variant MELA-AU 2 23620239 23620239 single base substitution C T intron_variant MELA-AU 2 23620928 23620928 single base substitution C T intron_variant MELA-AU 2 23621088 23621088 single base substitution C T intron_variant MELA-AU 2 23621256 23621256 single base substitution C T intron_variant MELA-AU 2 23621294 23621294 single base substitution C T intron_variant MELA-AU 2 23621402 23621402 single base substitution T G intron_variant MELA-AU 2 23621503 23621503 single base substitution C T intron_variant MELA-AU 2 23621642 23621642 single base substitution C T intron_variant MELA-AU 2 23621893 23621893 single base substitution A G intron_variant MELA-AU 2 23622103 23622103 single base substitution C T intron_variant MELA-AU 2 23622322 23622322 single base substitution C T intron_variant MELA-AU 2 23622585 23622585 single base substitution C T intron_variant MELA-AU 2 23622597 23622597 single base substitution C T intron_variant MELA-AU 2 23622811 23622811 single base substitution T G intron_variant MELA-AU 2 23622969 23622969 single base substitution T G intron_variant MELA-AU 2 23623871 23623871 single base substitution T A intron_variant MELA-AU 2 23623978 23623978 single base substitution C T intron_variant MELA-AU 2 23625127 23625127 single base substitution C T intron_variant MELA-AU 2 23625731 23625731 single base substitution G A intron_variant MELA-AU 2 23626487 23626487 single base substitution G A intron_variant MELA-AU 2 23628160 23628160 single base substitution G A intron_variant MELA-AU 2 23628435 23628435 single base substitution C T intron_variant MELA-AU 2 23628650 23628650 single base substitution G A intron_variant MELA-AU 2 23628997 23628997 single base substitution C T intron_variant MELA-AU 2 23629055 23629055 single base substitution C T intron_variant MELA-AU 2 23629520 23629520 single base substitution C T intron_variant MELA-AU 2 23629728 23629728 single base substitution C T intron_variant MELA-AU 2 23630171 23630171 single base substitution C T intron_variant MELA-AU 2 23630254 23630254 single base substitution C T intron_variant MELA-AU 2 23630548 23630548 single base substitution C T intron_variant MELA-AU 2 23630675 23630675 single base substitution C T intron_variant MELA-AU 2 23631157 23631157 single base substitution A G intron_variant MELA-AU 2 23631187 23631187 single base substitution T A intron_variant MELA-AU 2 23631373 23631373 single base substitution C T intron_variant MELA-AU 2 23631677 23631677 single base substitution C T intron_variant MELA-AU 2 23631768 23631768 single base substitution C T intron_variant MELA-AU 2 23631917 23631917 single base substitution C T intron_variant MELA-AU 2 23632218 23632218 single base substitution G A intron_variant MELA-AU 2 23632282 23632282 single base substitution C T intron_variant MELA-AU 2 23632366 23632366 single base substitution A G intron_variant MELA-AU 2 23633215 23633215 single base substitution G A intron_variant MELA-AU 2 23633309 23633309 single base substitution G A intron_variant MELA-AU 2 23633744 23633744 single base substitution C T intron_variant MELA-AU 2 23633844 23633844 single base substitution C T intron_variant MELA-AU 2 23634438 23634438 single base substitution C T intron_variant MELA-AU 2 23635156 23635156 single base substitution G T intron_variant MELA-AU 2 23635446 23635447 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 23636010 23636011 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 23636448 23636448 single base substitution C T intron_variant MELA-AU 2 23636588 23636588 single base substitution C T intron_variant MELA-AU 2 23636597 23636597 single base substitution C T intron_variant MELA-AU 2 23636599 23636599 single base substitution C T intron_variant MELA-AU 2 23636868 23636868 single base substitution C T intron_variant MELA-AU 2 23636906 23636906 single base substitution T C intron_variant MELA-AU 2 23636962 23636962 single base substitution G A intron_variant MELA-AU 2 23637141 23637141 single base substitution C T intron_variant MELA-AU 2 23637240 23637240 single base substitution G A intron_variant MELA-AU 2 23638210 23638211 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 2 23639349 23639350 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 23640303 23640303 single base substitution C T intron_variant MELA-AU 2 23640303 23640304 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 23640359 23640359 single base substitution C T intron_variant MELA-AU 2 23640756 23640756 single base substitution T A intron_variant MELA-AU 2 23640860 23640860 single base substitution C T intron_variant MELA-AU 2 23641009 23641009 single base substitution G A intron_variant MELA-AU 2 23641099 23641099 single base substitution C T intron_variant MELA-AU 2 23641583 23641583 single base substitution G A intron_variant MELA-AU 2 23642453 23642453 single base substitution C T intron_variant MELA-AU 2 23642802 23642802 single base substitution C T intron_variant MELA-AU 2 23643160 23643160 single base substitution C T intron_variant MELA-AU 2 23643804 23643804 single base substitution C T intron_variant MELA-AU 2 23643852 23643852 single base substitution C T intron_variant MELA-AU 2 23644020 23644020 single base substitution C T intron_variant MELA-AU 2 23644045 23644046 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 23644140 23644140 single base substitution G C intron_variant MELA-AU 2 23645154 23645154 single base substitution G T intron_variant MELA-AU 2 23645177 23645177 single base substitution C T intron_variant MELA-AU 2 23645786 23645786 single base substitution G A intron_variant MELA-AU 2 23645919 23645919 single base substitution G A intron_variant MELA-AU 2 23646068 23646068 single base substitution C T intron_variant MELA-AU 2 23646949 23646949 single base substitution T A intron_variant MELA-AU 2 23647254 23647254 single base substitution C T intron_variant MELA-AU 2 23647939 23647939 single base substitution G A intron_variant MELA-AU 2 23648220 23648221 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 23648397 23648397 single base substitution C T intron_variant MELA-AU 2 23648510 23648510 single base substitution C T intron_variant MELA-AU 2 23648742 23648742 single base substitution C T intron_variant MELA-AU 2 23649274 23649275 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 23649275 23649275 single base substitution C T intron_variant MELA-AU 2 23649318 23649318 single base substitution C T intron_variant MELA-AU 2 23649332 23649332 single base substitution C T intron_variant MELA-AU 2 23649356 23649356 single base substitution C T intron_variant MELA-AU 2 23649403 23649403 single base substitution C T intron_variant MELA-AU 2 23649929 23649929 single base substitution C T intron_variant MELA-AU 2 23649952 23649952 single base substitution G A intron_variant MELA-AU 2 23650094 23650094 single base substitution C T intron_variant MELA-AU 2 23650368 23650368 single base substitution G A intron_variant MELA-AU 2 23650630 23650630 single base substitution C T intron_variant MELA-AU 2 23650963 23650963 single base substitution C T intron_variant MELA-AU 2 23651279 23651279 single base substitution C T intron_variant MELA-AU 2 23651283 23651283 single base substitution C T intron_variant MELA-AU 2 23651467 23651467 single base substitution C T intron_variant MELA-AU 2 23652399 23652399 single base substitution G A intron_variant MELA-AU 2 23652579 23652579 single base substitution C T intron_variant MELA-AU 2 23652894 23652894 single base substitution G T intron_variant MELA-AU 2 23653100 23653100 single base substitution C A intron_variant MELA-AU 2 23653369 23653369 single base substitution C T intron_variant MELA-AU 2 23653375 23653375 single base substitution A T intron_variant MELA-AU 2 23653409 23653409 single base substitution C T intron_variant MELA-AU 2 23653575 23653575 single base substitution C T intron_variant MELA-AU 2 23653640 23653640 single base substitution T A intron_variant MELA-AU 2 23653648 23653648 single base substitution C T intron_variant MELA-AU 2 23655084 23655084 single base substitution C T intron_variant MELA-AU 2 23655157 23655157 single base substitution T C intron_variant MELA-AU 2 23657179 23657179 single base substitution G A intron_variant MELA-AU 2 23657479 23657479 single base substitution C T intron_variant MELA-AU 2 23657582 23657582 single base substitution T C intron_variant MELA-AU 2 23657599 23657599 single base substitution T A intron_variant MELA-AU 2 23658247 23658247 single base substitution G A intron_variant MELA-AU 2 23658506 23658507 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 23658694 23658694 single base substitution C T intron_variant MELA-AU 2 23659882 23659882 single base substitution C T intron_variant MELA-AU 2 23660262 23660262 single base substitution C T intron_variant MELA-AU 2 23660342 23660342 single base substitution A T intron_variant MELA-AU 2 23660434 23660434 single base substitution C T intron_variant MELA-AU 2 23660710 23660710 single base substitution C T intron_variant MELA-AU 2 23660786 23660786 single base substitution C T intron_variant MELA-AU 2 23660874 23660874 deletion of <=200bp T - intron_variant MELA-AU 2 23661119 23661119 single base substitution G T intron_variant MELA-AU 2 23661175 23661175 single base substitution C T intron_variant MELA-AU 2 23662518 23662518 single base substitution C T intron_variant MELA-AU 2 23664632 23664632 single base substitution C T intron_variant MELA-AU 2 23665082 23665082 single base substitution C T intron_variant MELA-AU 2 23665170 23665170 single base substitution C T intron_variant MELA-AU 2 23665700 23665700 single base substitution C T intron_variant MELA-AU 2 23665929 23665929 single base substitution C T intron_variant MELA-AU 2 23666242 23666242 single base substitution G A intron_variant MELA-AU 2 23666259 23666259 single base substitution C T intron_variant MELA-AU 2 23666369 23666369 single base substitution C T intron_variant MELA-AU 2 23666397 23666397 single base substitution G A intron_variant MELA-AU 2 23666668 23666668 single base substitution G A intron_variant MELA-AU 2 23666988 23666988 single base substitution C T intron_variant MELA-AU 2 23667916 23667916 single base substitution C T intron_variant MELA-AU 2 23668216 23668216 single base substitution T C intron_variant MELA-AU 2 23669148 23669149 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 23669190 23669190 single base substitution C T intron_variant MELA-AU 2 23669542 23669542 single base substitution C T intron_variant MELA-AU 2 23669637 23669637 single base substitution C T intron_variant MELA-AU 2 23670174 23670174 single base substitution G A intron_variant MELA-AU 2 23670216 23670216 single base substitution G A intron_variant MELA-AU 2 23670240 23670240 single base substitution C T intron_variant MELA-AU 2 23670356 23670356 single base substitution G A intron_variant MELA-AU 2 23670363 23670363 single base substitution C T intron_variant MELA-AU 2 23670477 23670477 single base substitution C T intron_variant MELA-AU 2 23670623 23670623 single base substitution C T intron_variant MELA-AU 2 23671004 23671004 single base substitution C T intron_variant MELA-AU 2 23671022 23671022 single base substitution C G intron_variant MELA-AU 2 23671951 23671951 single base substitution C T intron_variant MELA-AU 2 23672484 23672484 single base substitution A C intron_variant MELA-AU 2 23672500 23672500 single base substitution T C intron_variant MELA-AU 2 23672732 23672732 single base substitution T A intron_variant MELA-AU 2 23673020 23673020 single base substitution G A intron_variant MELA-AU 2 23673267 23673267 single base substitution C T intron_variant MELA-AU 2 23673274 23673274 single base substitution G A intron_variant MELA-AU 2 23673488 23673488 single base substitution C T intron_variant MELA-AU 2 23673732 23673732 single base substitution C A intron_variant MELA-AU 2 23674426 23674426 single base substitution C T intron_variant MELA-AU 2 23674525 23674525 single base substitution C T intron_variant MELA-AU 2 23674534 23674534 single base substitution G A intron_variant MELA-AU 2 23674543 23674543 single base substitution G A intron_variant MELA-AU 2 23676246 23676246 single base substitution C T intron_variant MELA-AU 2 23677036 23677036 single base substitution A C intron_variant MELA-AU 2 23677132 23677132 single base substitution C T intron_variant MELA-AU 2 23677159 23677159 single base substitution C T intron_variant MELA-AU 2 23677533 23677533 single base substitution C T intron_variant MELA-AU 2 23678725 23678725 single base substitution C T intron_variant MELA-AU 2 23678920 23678920 single base substitution C T intron_variant MELA-AU 2 23679015 23679015 single base substitution G A intron_variant MELA-AU 2 23679351 23679351 single base substitution C T intron_variant MELA-AU 2 23679530 23679530 single base substitution C T intron_variant MELA-AU 2 23679627 23679627 single base substitution C T intron_variant MELA-AU 2 23679697 23679697 single base substitution C T intron_variant MELA-AU 2 23680386 23680386 single base substitution C T intron_variant MELA-AU 2 23680679 23680679 single base substitution C T intron_variant MELA-AU 2 23680977 23680977 single base substitution C T intron_variant MELA-AU 2 23681046 23681046 single base substitution C T intron_variant MELA-AU 2 23681979 23681979 single base substitution G C intron_variant MELA-AU 2 23683069 23683069 single base substitution C T intron_variant MELA-AU 2 23683922 23683922 single base substitution C T intron_variant MELA-AU 2 23684182 23684182 single base substitution G A intron_variant MELA-AU 2 23684765 23684765 single base substitution C T intron_variant MELA-AU 2 23684781 23684781 single base substitution C T intron_variant MELA-AU 2 23684785 23684785 single base substitution G A intron_variant MELA-AU 2 23684815 23684815 single base substitution G C intron_variant MELA-AU 2 23684883 23684883 single base substitution T G intron_variant MELA-AU 2 23685034 23685034 single base substitution C T intron_variant MELA-AU 2 23685658 23685658 single base substitution G A intron_variant MELA-AU 2 23686067 23686068 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 2 23686165 23686165 single base substitution A G intron_variant MELA-AU 2 23686353 23686353 single base substitution A T intron_variant MELA-AU 2 23686746 23686746 single base substitution C T intron_variant MELA-AU 2 23687132 23687132 single base substitution C T intron_variant MELA-AU 2 23687133 23687133 single base substitution C T intron_variant MELA-AU 2 23687176 23687176 single base substitution C T intron_variant MELA-AU 2 23687224 23687224 single base substitution C T intron_variant MELA-AU 2 23687481 23687481 single base substitution T C intron_variant MELA-AU 2 23687524 23687524 single base substitution C T intron_variant MELA-AU 2 23688837 23688837 single base substitution C T intron_variant MELA-AU 2 23688982 23688982 single base substitution C T intron_variant MELA-AU 2 23689011 23689011 single base substitution G A intron_variant MELA-AU 2 23689320 23689320 single base substitution C T intron_variant MELA-AU 2 23689469 23689469 single base substitution G A intron_variant MELA-AU 2 23690347 23690347 single base substitution G A intron_variant MELA-AU 2 23691008 23691008 single base substitution C T intron_variant MELA-AU 2 23691276 23691276 single base substitution C T intron_variant MELA-AU 2 23691962 23691962 single base substitution C T intron_variant MELA-AU 2 23692356 23692356 single base substitution C T intron_variant MELA-AU 2 23692759 23692759 single base substitution C T intron_variant MELA-AU 2 23692995 23692995 single base substitution C T intron_variant MELA-AU 2 23693526 23693527 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 23693548 23693548 single base substitution C T intron_variant MELA-AU 2 23693701 23693702 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 23694085 23694088 deletion of <=200bp GGAG - intron_variant MELA-AU 2 23694265 23694265 single base substitution C T intron_variant MELA-AU 2 23694388 23694388 single base substitution C T intron_variant MELA-AU 2 23694696 23694696 single base substitution C T intron_variant MELA-AU 2 23695238 23695238 single base substitution C T intron_variant MELA-AU 2 23695433 23695433 single base substitution G A intron_variant MELA-AU 2 23695764 23695764 single base substitution C T intron_variant MELA-AU 2 23695885 23695885 single base substitution A G intron_variant MELA-AU 2 23695953 23695954 deletion of <=200bp AG - intron_variant MELA-AU 2 23696431 23696431 single base substitution C A intron_variant MELA-AU 2 23697376 23697376 single base substitution C T intron_variant MELA-AU 2 23697601 23697601 single base substitution C T intron_variant MELA-AU 2 23697675 23697675 single base substitution G A intron_variant MELA-AU 2 23698119 23698119 single base substitution G A intron_variant MELA-AU 2 23698404 23698404 single base substitution C T intron_variant MELA-AU 2 23698416 23698416 single base substitution C T intron_variant MELA-AU 2 23698417 23698417 single base substitution C T intron_variant MELA-AU 2 23698504 23698504 single base substitution G A 5_prime_UTR_variant MELA-AU 2 23698599 23698599 single base substitution C T intron_variant MELA-AU 2 23698720 23698720 single base substitution G T intron_variant MELA-AU 2 23698916 23698916 single base substitution C T intron_variant MELA-AU 2 23699159 23699159 single base substitution A G intron_variant MELA-AU 2 23699375 23699375 single base substitution C T intron_variant MELA-AU 2 23699668 23699668 single base substitution C T intron_variant MELA-AU 2 23700002 23700002 single base substitution A C intron_variant MELA-AU 2 23700224 23700224 single base substitution G A intron_variant MELA-AU 2 23700509 23700509 single base substitution C T intron_variant MELA-AU 2 23700528 23700528 single base substitution C T intron_variant MELA-AU 2 23700786 23700786 single base substitution G A intron_variant MELA-AU 2 23701169 23701169 single base substitution C T intron_variant MELA-AU 2 23701203 23701203 single base substitution G A intron_variant MELA-AU 2 23701492 23701513 deletion of <=200bp TTGCGCAGAGCCCAAGGCTGAG - intron_variant MELA-AU 2 23701753 23701753 single base substitution C T intron_variant MELA-AU 2 23701863 23701863 single base substitution C T intron_variant MELA-AU 2 23701885 23701885 single base substitution C T intron_variant MELA-AU 2 23701896 23701897 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 2 23701940 23701940 single base substitution G A intron_variant MELA-AU 2 23702057 23702057 single base substitution C T intron_variant MELA-AU 2 23702153 23702153 single base substitution G A intron_variant MELA-AU 2 23702358 23702358 single base substitution C T intron_variant MELA-AU 2 23702429 23702429 single base substitution C T intron_variant MELA-AU 2 23702575 23702575 single base substitution C T intron_variant MELA-AU 2 23702630 23702630 single base substitution C T intron_variant MELA-AU 2 23703132 23703132 single base substitution G C intron_variant MELA-AU 2 23703231 23703231 single base substitution C T intron_variant MELA-AU 2 23703395 23703395 single base substitution C T intron_variant MELA-AU 2 23703708 23703708 single base substitution C T intron_variant MELA-AU 2 23704835 23704835 single base substitution G A intron_variant MELA-AU 2 23705158 23705158 single base substitution C T intron_variant MELA-AU 2 23705272 23705272 single base substitution C T intron_variant MELA-AU 2 23705579 23705579 single base substitution C T intron_variant MELA-AU 2 23706304 23706304 single base substitution C T intron_variant MELA-AU 2 23706404 23706404 single base substitution C T intron_variant MELA-AU 2 23706582 23706582 single base substitution G T intron_variant MELA-AU 2 23706894 23706894 single base substitution G A intron_variant MELA-AU 2 23707225 23707225 single base substitution G A intron_variant MELA-AU 2 23707288 23707288 single base substitution C T intron_variant MELA-AU 2 23707528 23707528 single base substitution C T intron_variant MELA-AU 2 23708073 23708073 single base substitution C T intron_variant MELA-AU 2 23708341 23708341 single base substitution C T intron_variant MELA-AU 2 23708869 23708870 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 23708892 23708892 single base substitution C T intron_variant MELA-AU 2 23709231 23709231 single base substitution C T intron_variant MELA-AU 2 23709664 23709664 single base substitution G C intron_variant MELA-AU 2 23709915 23709915 single base substitution G A intron_variant MELA-AU 2 23711087 23711087 single base substitution A G intron_variant MELA-AU 2 23711113 23711113 single base substitution C T intron_variant MELA-AU 2 23712166 23712166 single base substitution C T intron_variant MELA-AU 2 23712214 23712214 single base substitution C T intron_variant MELA-AU 2 23712321 23712321 single base substitution C T intron_variant MELA-AU 2 23712671 23712671 single base substitution G A intron_variant MELA-AU 2 23712726 23712727 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 23712880 23712880 deletion of <=200bp C - intron_variant MELA-AU 2 23713135 23713135 single base substitution A G intron_variant MELA-AU 2 23713622 23713622 single base substitution C T intron_variant MELA-AU 2 23713944 23713944 single base substitution A G intron_variant MELA-AU 2 23714168 23714168 single base substitution C T intron_variant MELA-AU 2 23714331 23714331 single base substitution C T intron_variant MELA-AU 2 23714834 23714834 single base substitution C T intron_variant MELA-AU 2 23714927 23714927 single base substitution C T intron_variant MELA-AU 2 23715225 23715225 single base substitution C T intron_variant MELA-AU 2 23715284 23715284 single base substitution C T intron_variant MELA-AU 2 23715456 23715456 single base substitution C T intron_variant MELA-AU 2 23715483 23715484 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 2 23715838 23715838 single base substitution A C intron_variant MELA-AU 2 23716070 23716070 single base substitution C T intron_variant MELA-AU 2 23716263 23716263 single base substitution C T intron_variant MELA-AU 2 23716692 23716692 single base substitution C T intron_variant MELA-AU 2 23717341 23717341 single base substitution C T intron_variant MELA-AU 2 23717394 23717394 single base substitution G T intron_variant MELA-AU 2 23718002 23718002 single base substitution C T intron_variant MELA-AU 2 23718254 23718254 single base substitution G A intron_variant MELA-AU 2 23718465 23718465 single base substitution C A intron_variant MELA-AU 2 23718472 23718472 single base substitution T A intron_variant MELA-AU 2 23718560 23718560 single base substitution C T intron_variant MELA-AU 2 23718596 23718596 single base substitution T C intron_variant MELA-AU 2 23718718 23718718 single base substitution G A intron_variant MELA-AU 2 23719251 23719251 single base substitution C T intron_variant MELA-AU 2 23719289 23719289 single base substitution C A intron_variant MELA-AU 2 23719372 23719372 single base substitution C T intron_variant MELA-AU 2 23721217 23721217 single base substitution C T intron_variant MELA-AU 2 23722447 23722447 single base substitution G A intron_variant MELA-AU 2 23723413 23723413 single base substitution G A intron_variant MELA-AU 2 23723957 23723957 single base substitution C T intron_variant MELA-AU 2 23724566 23724566 single base substitution T C intron_variant MELA-AU 2 23724713 23724713 single base substitution A G intron_variant MELA-AU 2 23724716 23724716 single base substitution G A intron_variant MELA-AU 2 23726048 23726048 single base substitution G A intron_variant MELA-AU 2 23726692 23726692 single base substitution C T intron_variant MELA-AU 2 23727680 23727680 single base substitution G A intron_variant MELA-AU 2 23727837 23727837 single base substitution G A intron_variant MELA-AU 2 23728009 23728009 single base substitution G A intron_variant MELA-AU 2 23728346 23728346 single base substitution C T intron_variant MELA-AU 2 23729317 23729317 single base substitution C T intron_variant MELA-AU 2 23729494 23729494 single base substitution G A intron_variant MELA-AU 2 23730989 23730989 single base substitution G A intron_variant MELA-AU 2 23731386 23731386 single base substitution C T intron_variant MELA-AU 2 23731405 23731405 single base substitution T G intron_variant MELA-AU 2 23731829 23731829 single base substitution C T intron_variant MELA-AU 2 23732363 23732363 single base substitution C T intron_variant MELA-AU 2 23732681 23732681 single base substitution C T intron_variant MELA-AU 2 23732749 23732749 single base substitution C T intron_variant MELA-AU 2 23733369 23733369 single base substitution G A intron_variant MELA-AU 2 23733685 23733685 single base substitution C T intron_variant MELA-AU 2 23734536 23734536 single base substitution T G intron_variant MELA-AU 2 23735177 23735177 single base substitution T C intron_variant MELA-AU 2 23736032 23736033 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 23736639 23736639 single base substitution G A intron_variant MELA-AU 2 23737160 23737160 single base substitution C T intron_variant MELA-AU 2 23737654 23737654 single base substitution C T intron_variant MELA-AU 2 23737670 23737670 single base substitution G A intron_variant MELA-AU 2 23737698 23737698 single base substitution C T intron_variant MELA-AU 2 23737717 23737717 single base substitution G A intron_variant MELA-AU 2 23738147 23738147 single base substitution C T intron_variant MELA-AU 2 23738185 23738185 single base substitution C T intron_variant MELA-AU 2 23738208 23738209 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 23739225 23739225 single base substitution C T intron_variant MELA-AU 2 23739915 23739915 single base substitution T G intron_variant MELA-AU 2 23740409 23740409 single base substitution C T intron_variant MELA-AU 2 23740596 23740596 single base substitution G T intron_variant MELA-AU 2 23741012 23741012 single base substitution G C intron_variant MELA-AU 2 23741441 23741441 single base substitution C T intron_variant MELA-AU 2 23742997 23742997 single base substitution C T intron_variant MELA-AU 2 23743007 23743007 single base substitution C T intron_variant MELA-AU 2 23743368 23743368 single base substitution G A intron_variant MELA-AU 2 23743526 23743526 single base substitution A T intron_variant MELA-AU 2 23744674 23744674 single base substitution C T intron_variant MELA-AU 2 23745218 23745219 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 23745852 23745852 single base substitution C T intron_variant MELA-AU 2 23746357 23746357 single base substitution C A intron_variant MELA-AU 2 23746371 23746371 single base substitution C T intron_variant MELA-AU 2 23748047 23748047 single base substitution G A intron_variant MELA-AU 2 23748421 23748421 single base substitution C T intron_variant MELA-AU 2 23748786 23748786 single base substitution G T intron_variant MELA-AU 2 23749416 23749416 single base substitution T C intron_variant MELA-AU 2 23750046 23750046 single base substitution G A intron_variant MELA-AU 2 23750173 23750173 single base substitution C T intron_variant MELA-AU 2 23751409 23751409 single base substitution C T intron_variant MELA-AU 2 23751409 23751409 single base substitution C T upstream_gene_variant MELA-AU 2 23751494 23751494 single base substitution C T intron_variant MELA-AU 2 23751494 23751494 single base substitution C T upstream_gene_variant MELA-AU 2 23751856 23751856 single base substitution C T intron_variant MELA-AU 2 23751856 23751856 single base substitution C T upstream_gene_variant MELA-AU 2 23751975 23751975 single base substitution C T intron_variant MELA-AU 2 23751975 23751975 single base substitution C T upstream_gene_variant MELA-AU 2 23752086 23752086 single base substitution C T intron_variant MELA-AU 2 23752086 23752086 single base substitution C T upstream_gene_variant MELA-AU 2 23753164 23753164 single base substitution C T intron_variant MELA-AU 2 23753164 23753164 single base substitution C T upstream_gene_variant MELA-AU 2 23753289 23753289 single base substitution G A intron_variant MELA-AU 2 23753289 23753289 single base substitution G A upstream_gene_variant MELA-AU 2 23753887 23753887 single base substitution G A intron_variant MELA-AU 2 23753887 23753887 single base substitution G A upstream_gene_variant MELA-AU 2 23754326 23754326 single base substitution C T intron_variant MELA-AU 2 23754326 23754326 single base substitution C T upstream_gene_variant MELA-AU 2 23754668 23754668 single base substitution C T intron_variant MELA-AU 2 23754668 23754668 single base substitution C T upstream_gene_variant MELA-AU 2 23754742 23754742 single base substitution C T intron_variant MELA-AU 2 23754742 23754742 single base substitution C T upstream_gene_variant MELA-AU 2 23755934 23755934 single base substitution T G intron_variant MELA-AU 2 23756879 23756879 single base substitution C T intron_variant MELA-AU 2 23756913 23756913 single base substitution G A intron_variant MELA-AU 2 23757340 23757340 single base substitution C A intron_variant MELA-AU 2 23758519 23758519 single base substitution C A intron_variant MELA-AU 2 23758614 23758614 single base substitution G A intron_variant MELA-AU 2 23759505 23759505 single base substitution C T intron_variant MELA-AU 2 23759535 23759535 single base substitution C T intron_variant MELA-AU 2 23759713 23759719 deletion of <=200bp CAAACTT - intron_variant MELA-AU 2 23759786 23759786 single base substitution A T intron_variant MELA-AU 2 23759788 23759788 single base substitution A T intron_variant MELA-AU 2 23760978 23760978 single base substitution A G intron_variant MELA-AU 2 23761061 23761061 single base substitution C T intron_variant MELA-AU 2 23761634 23761634 single base substitution C T intron_variant MELA-AU 2 23762495 23762495 single base substitution A G intron_variant MELA-AU 2 23762798 23762798 single base substitution A G intron_variant MELA-AU 2 23762811 23762811 single base substitution C T intron_variant MELA-AU 2 23762945 23762945 single base substitution C T intron_variant MELA-AU 2 23763084 23763084 single base substitution C T intron_variant MELA-AU 2 23763087 23763087 single base substitution C T intron_variant MELA-AU 2 23763299 23763299 single base substitution C T intron_variant MELA-AU 2 23763459 23763459 single base substitution G A intron_variant MELA-AU 2 23763850 23763850 single base substitution C T intron_variant MELA-AU 2 23763955 23763955 single base substitution A G intron_variant MELA-AU 2 23763959 23763959 single base substitution G A intron_variant MELA-AU 2 23764218 23764218 single base substitution G A intron_variant MELA-AU 2 23764226 23764226 single base substitution G A intron_variant MELA-AU 2 23764287 23764287 single base substitution C T intron_variant MELA-AU 2 23765485 23765486 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 23765553 23765553 single base substitution C T intron_variant MELA-AU 2 23765636 23765636 single base substitution G A intron_variant MELA-AU 2 23766701 23766701 single base substitution C T intron_variant MELA-AU 2 23766772 23766772 single base substitution C T intron_variant MELA-AU 2 23766834 23766834 single base substitution T C intron_variant MELA-AU 2 23767072 23767072 single base substitution G A intron_variant MELA-AU 2 23767104 23767104 single base substitution C T intron_variant MELA-AU 2 23767138 23767138 single base substitution C T intron_variant MELA-AU 2 23767397 23767397 single base substitution C T intron_variant MELA-AU 2 23770281 23770281 single base substitution G A intron_variant MELA-AU 2 23770341 23770341 single base substitution C T intron_variant MELA-AU 2 23770805 23770805 single base substitution T C intron_variant MELA-AU 2 23771963 23771963 single base substitution C T intron_variant MELA-AU 2 23771999 23771999 single base substitution C T intron_variant MELA-AU 2 23772812 23772812 single base substitution C T intron_variant MELA-AU 2 23773460 23773460 single base substitution G A intron_variant MELA-AU 2 23773608 23773608 single base substitution T C intron_variant MELA-AU 2 23773880 23773880 single base substitution G A intron_variant MELA-AU 2 23773953 23773953 single base substitution G C intron_variant MELA-AU 2 23774059 23774059 single base substitution C T intron_variant MELA-AU 2 23774597 23774597 single base substitution G A intron_variant MELA-AU 2 23774829 23774829 single base substitution G A intron_variant MELA-AU 2 23774909 23774909 single base substitution A T intron_variant MELA-AU 2 23775970 23775970 single base substitution C T intron_variant MELA-AU 2 23776173 23776173 single base substitution G T intron_variant MELA-AU 2 23776243 23776244 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 23776252 23776252 single base substitution C T intron_variant MELA-AU 2 23776621 23776621 single base substitution G A intron_variant MELA-AU 2 23777054 23777054 single base substitution C T intron_variant MELA-AU 2 23777616 23777617 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 23777784 23777784 single base substitution G A intron_variant MELA-AU 2 23777998 23777998 single base substitution C T intron_variant MELA-AU 2 23778175 23778175 single base substitution G A intron_variant MELA-AU 2 23778350 23778350 single base substitution C T intron_variant MELA-AU 2 23778521 23778521 single base substitution G A intron_variant MELA-AU 2 23778942 23778942 single base substitution C T intron_variant MELA-AU 2 23779741 23779741 single base substitution C T intron_variant MELA-AU 2 23779858 23779858 single base substitution G C intron_variant MELA-AU 2 23779953 23779953 single base substitution C T intron_variant MELA-AU 2 23780528 23780528 single base substitution T C intron_variant MELA-AU 2 23780555 23780555 single base substitution C T intron_variant MELA-AU 2 23780704 23780704 single base substitution G C intron_variant MELA-AU 2 23781357 23781357 single base substitution C T intron_variant MELA-AU 2 23781443 23781443 single base substitution C T intron_variant MELA-AU 2 23781920 23781920 single base substitution G A intron_variant MELA-AU 2 23782475 23782475 single base substitution C T intron_variant MELA-AU 2 23782810 23782810 single base substitution G A intron_variant MELA-AU 2 23783551 23783551 single base substitution C T intron_variant MELA-AU 2 23783879 23783879 single base substitution G A intron_variant MELA-AU 2 23784320 23784320 single base substitution G A intron_variant MELA-AU 2 23784395 23784395 single base substitution G A intron_variant MELA-AU 2 23784470 23784470 single base substitution C T intron_variant MELA-AU 2 23785072 23785072 single base substitution C T exon_variant MELA-AU 2 23785072 23785072 single base substitution C T synonymous_variant S2S 6C>T MELA-AU 2 23785542 23785542 deletion of <=200bp A - intron_variant MELA-AU 2 23786341 23786341 single base substitution G A intron_variant MELA-AU 2 23787643 23787643 single base substitution G C intron_variant MELA-AU 2 23788344 23788344 single base substitution C T intron_variant MELA-AU 2 23788370 23788370 single base substitution G C intron_variant MELA-AU 2 23788391 23788391 single base substitution G A intron_variant MELA-AU 2 23789486 23789486 single base substitution G A intron_variant MELA-AU 2 23790125 23790125 single base substitution G A intron_variant MELA-AU 2 23790356 23790356 single base substitution T C intron_variant MELA-AU 2 23791065 23791065 single base substitution G A intron_variant MELA-AU 2 23792046 23792046 single base substitution G A intron_variant MELA-AU 2 23792205 23792205 single base substitution T A intron_variant MELA-AU 2 23792956 23792958 multiple base substitution (>=2bp and <=200bp) TGT ATC intron_variant MELA-AU 2 23793187 23793187 single base substitution G A intron_variant MELA-AU 2 23793881 23793881 single base substitution C A intron_variant MELA-AU 2 23795854 23795854 single base substitution G A intron_variant MELA-AU 2 23796614 23796614 single base substitution C T intron_variant MELA-AU 2 23797222 23797222 single base substitution T G intron_variant MELA-AU 2 23797266 23797266 single base substitution C T intron_variant MELA-AU 2 23797620 23797620 single base substitution G A intron_variant MELA-AU 2 23798061 23798061 single base substitution G A intron_variant MELA-AU 2 23798462 23798462 single base substitution C T intron_variant MELA-AU 2 23798687 23798687 single base substitution C T intron_variant MELA-AU 2 23798707 23798707 single base substitution C T intron_variant MELA-AU 2 23798759 23798759 single base substitution C T intron_variant MELA-AU 2 23799303 23799303 single base substitution G A intron_variant MELA-AU 2 23800085 23800085 single base substitution C T intron_variant MELA-AU 2 23801058 23801058 single base substitution G A intron_variant MELA-AU 2 23802136 23802136 single base substitution C T intron_variant MELA-AU 2 23802159 23802159 single base substitution G A intron_variant MELA-AU 2 23802342 23802342 single base substitution C T intron_variant MELA-AU 2 23802534 23802534 single base substitution C T intron_variant MELA-AU 2 23802896 23802896 single base substitution C T intron_variant MELA-AU 2 23803913 23803913 single base substitution C T intron_variant MELA-AU 2 23803949 23803949 single base substitution C T intron_variant MELA-AU 2 23805079 23805079 single base substitution T C intron_variant MELA-AU 2 23806083 23806083 single base substitution G A intron_variant MELA-AU 2 23806113 23806113 single base substitution G A intron_variant MELA-AU 2 23806312 23806312 single base substitution T C intron_variant MELA-AU 2 23806538 23806538 single base substitution G A intron_variant MELA-AU 2 23806687 23806687 single base substitution C T intron_variant MELA-AU 2 23807061 23807061 single base substitution C T intron_variant MELA-AU 2 23807205 23807205 single base substitution G A intron_variant MELA-AU 2 23807357 23807357 single base substitution C T intron_variant MELA-AU 2 23807606 23807606 single base substitution T C intron_variant MELA-AU 2 23808647 23808647 single base substitution A G intron_variant MELA-AU 2 23808916 23808916 single base substitution G A intron_variant MELA-AU 2 23809023 23809023 single base substitution G A intron_variant MELA-AU 2 23809105 23809105 single base substitution T G intron_variant MELA-AU 2 23809271 23809272 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 23810080 23810080 single base substitution C T intron_variant MELA-AU 2 23810330 23810330 single base substitution A G intron_variant MELA-AU 2 23810683 23810683 single base substitution C T intron_variant MELA-AU 2 23810684 23810684 single base substitution C T intron_variant MELA-AU 2 23810711 23810711 single base substitution C T intron_variant MELA-AU 2 23810927 23810927 single base substitution C T intron_variant MELA-AU 2 23811343 23811343 single base substitution C T intron_variant MELA-AU 2 23812078 23812078 single base substitution C A intron_variant MELA-AU 2 23812333 23812333 single base substitution G A intron_variant MELA-AU 2 23812340 23812340 single base substitution C T intron_variant MELA-AU 2 23812448 23812448 single base substitution C T intron_variant MELA-AU 2 23812850 23812850 single base substitution G A intron_variant MELA-AU 2 23812922 23812922 single base substitution G T intron_variant MELA-AU 2 23812927 23812927 single base substitution A C intron_variant MELA-AU 2 23813588 23813588 single base substitution C T intron_variant MELA-AU 2 23813601 23813601 single base substitution C T intron_variant MELA-AU 2 23813669 23813669 single base substitution C T intron_variant MELA-AU 2 23813932 23813932 single base substitution C T intron_variant MELA-AU 2 23814528 23814528 single base substitution C T intron_variant MELA-AU 2 23814531 23814531 single base substitution C T intron_variant MELA-AU 2 23814832 23814832 single base substitution C T intron_variant MELA-AU 2 23814988 23814988 single base substitution G A intron_variant MELA-AU 2 23815109 23815109 single base substitution C T intron_variant MELA-AU 2 23815270 23815270 single base substitution C T intron_variant MELA-AU 2 23815455 23815455 single base substitution C T intron_variant MELA-AU 2 23815632 23815632 single base substitution T C intron_variant MELA-AU 2 23815791 23815791 single base substitution C T intron_variant MELA-AU 2 23815971 23815971 single base substitution C T intron_variant MELA-AU 2 23816221 23816221 single base substitution C T intron_variant MELA-AU 2 23816496 23816497 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 23816572 23816572 single base substitution C T intron_variant MELA-AU 2 23816612 23816612 single base substitution C T intron_variant MELA-AU 2 23817274 23817274 single base substitution C T intron_variant MELA-AU 2 23817478 23817478 single base substitution C T intron_variant MELA-AU 2 23817771 23817771 single base substitution A T intron_variant MELA-AU 2 23817802 23817802 single base substitution C T intron_variant MELA-AU 2 23817846 23817846 single base substitution C T intron_variant MELA-AU 2 23819509 23819509 single base substitution C T intron_variant MELA-AU 2 23819714 23819714 single base substitution C T intron_variant MELA-AU 2 23820179 23820179 single base substitution A G intron_variant MELA-AU 2 23820936 23820936 single base substitution C T intron_variant MELA-AU 2 23821110 23821110 single base substitution T C intron_variant MELA-AU 2 23821155 23821155 single base substitution C T intron_variant MELA-AU 2 23821377 23821377 single base substitution C T intron_variant MELA-AU 2 23822263 23822263 single base substitution G A intron_variant MELA-AU 2 23822880 23822880 single base substitution A G intron_variant MELA-AU 2 23823177 23823177 single base substitution C T intron_variant MELA-AU 2 23823546 23823546 single base substitution A G intron_variant MELA-AU 2 23824707 23824707 single base substitution C T intron_variant MELA-AU 2 23824975 23824976 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 23825623 23825623 single base substitution C T intron_variant MELA-AU 2 23825908 23825908 single base substitution C T intron_variant MELA-AU 2 23825989 23825989 single base substitution C T intron_variant MELA-AU 2 23826345 23826345 single base substitution G A intron_variant MELA-AU 2 23826511 23826511 single base substitution C T intron_variant MELA-AU 2 23826674 23826674 single base substitution G A intron_variant MELA-AU 2 23826775 23826775 single base substitution C T intron_variant MELA-AU 2 23827273 23827273 single base substitution C T intron_variant MELA-AU 2 23827316 23827316 single base substitution G C intron_variant MELA-AU 2 23827457 23827457 single base substitution C T intron_variant MELA-AU 2 23827606 23827606 single base substitution G A intron_variant MELA-AU 2 23827637 23827637 single base substitution T G intron_variant MELA-AU 2 23828208 23828208 single base substitution T C intron_variant MELA-AU 2 23828350 23828350 single base substitution C T intron_variant MELA-AU 2 23828641 23828641 single base substitution C T intron_variant MELA-AU 2 23828642 23828642 single base substitution C T intron_variant MELA-AU 2 23829275 23829275 single base substitution C T intron_variant MELA-AU 2 23829581 23829581 single base substitution G A intron_variant MELA-AU 2 23829675 23829675 single base substitution C T intron_variant MELA-AU 2 23829775 23829775 single base substitution G A intron_variant MELA-AU 2 23830836 23830836 single base substitution T C intron_variant MELA-AU 2 23830874 23830874 single base substitution C T intron_variant MELA-AU 2 23831275 23831275 single base substitution C T intron_variant MELA-AU 2 23831283 23831283 single base substitution A C intron_variant MELA-AU 2 23831296 23831296 single base substitution C T intron_variant MELA-AU 2 23831423 23831423 single base substitution C G intron_variant MELA-AU 2 23831872 23831872 single base substitution G A intron_variant MELA-AU 2 23832064 23832064 single base substitution C T intron_variant MELA-AU 2 23832293 23832293 single base substitution A T intron_variant MELA-AU 2 23832369 23832369 single base substitution G A intron_variant MELA-AU 2 23832395 23832395 single base substitution C T intron_variant MELA-AU 2 23832396 23832396 single base substitution C T intron_variant MELA-AU 2 23832473 23832473 single base substitution C T intron_variant MELA-AU 2 23832649 23832649 single base substitution G A intron_variant MELA-AU 2 23832790 23832790 single base substitution C T intron_variant MELA-AU 2 23833421 23833421 single base substitution C T intron_variant MELA-AU 2 23833661 23833661 single base substitution C T intron_variant MELA-AU 2 23833770 23833770 single base substitution C T intron_variant MELA-AU 2 23834121 23834121 single base substitution C T intron_variant MELA-AU 2 23834492 23834492 single base substitution T C intron_variant MELA-AU 2 23834496 23834496 single base substitution C T intron_variant MELA-AU 2 23834614 23834614 single base substitution C T intron_variant MELA-AU 2 23834758 23834758 single base substitution A G intron_variant MELA-AU 2 23834865 23834865 single base substitution G A intron_variant MELA-AU 2 23834974 23834974 single base substitution A G intron_variant MELA-AU 2 23835230 23835230 single base substitution G A intron_variant MELA-AU 2 23835287 23835287 single base substitution T A intron_variant MELA-AU 2 23835628 23835628 single base substitution G A intron_variant MELA-AU 2 23836350 23836350 single base substitution C T intron_variant MELA-AU 2 23836661 23836661 single base substitution C T intron_variant MELA-AU 2 23836677 23836677 single base substitution C T intron_variant MELA-AU 2 23837376 23837376 single base substitution G A intron_variant MELA-AU 2 23838505 23838506 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 23838572 23838572 single base substitution C T intron_variant MELA-AU 2 23839040 23839041 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 23839569 23839569 single base substitution C T intron_variant MELA-AU 2 23839632 23839632 single base substitution C T intron_variant MELA-AU 2 23839685 23839685 single base substitution C T intron_variant MELA-AU 2 23839796 23839797 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 23839990 23839990 single base substitution C T intron_variant MELA-AU 2 23840187 23840187 single base substitution C T intron_variant MELA-AU 2 23841251 23841251 single base substitution A G intron_variant MELA-AU 2 23841493 23841493 single base substitution G A intron_variant MELA-AU 2 23841517 23841517 single base substitution C T intron_variant MELA-AU 2 23841790 23841790 single base substitution C T intron_variant MELA-AU 2 23842122 23842122 single base substitution C T intron_variant MELA-AU 2 23842141 23842141 single base substitution G A intron_variant MELA-AU 2 23842147 23842147 single base substitution C T intron_variant MELA-AU 2 23842703 23842703 single base substitution C T intron_variant MELA-AU 2 23842750 23842750 single base substitution G A intron_variant MELA-AU 2 23843396 23843396 single base substitution C T intron_variant MELA-AU 2 23843626 23843626 single base substitution C T intron_variant MELA-AU 2 23844027 23844027 single base substitution T C intron_variant MELA-AU 2 23844234 23844234 single base substitution C T intron_variant MELA-AU 2 23844697 23844697 single base substitution C T intron_variant MELA-AU 2 23844831 23844831 single base substitution G A intron_variant MELA-AU 2 23845958 23845958 single base substitution A T intron_variant MELA-AU 2 23846017 23846017 single base substitution G A intron_variant MELA-AU 2 23846069 23846069 single base substitution C T intron_variant MELA-AU 2 23846140 23846140 single base substitution C T intron_variant MELA-AU 2 23846158 23846158 single base substitution C T intron_variant MELA-AU 2 23846186 23846186 single base substitution C T intron_variant MELA-AU 2 23846542 23846542 single base substitution C T intron_variant MELA-AU 2 23846682 23846682 single base substitution G C intron_variant MELA-AU 2 23847270 23847270 single base substitution C T intron_variant MELA-AU 2 23847645 23847646 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 23848253 23848253 single base substitution G A intron_variant MELA-AU 2 23849081 23849081 single base substitution C T intron_variant MELA-AU 2 23849135 23849135 single base substitution G A intron_variant MELA-AU 2 23849469 23849469 single base substitution C T intron_variant MELA-AU 2 23849985 23849985 single base substitution C T intron_variant MELA-AU 2 23850037 23850037 single base substitution C T intron_variant MELA-AU 2 23850423 23850423 single base substitution C T intron_variant MELA-AU 2 23850445 23850445 single base substitution C T intron_variant MELA-AU 2 23850695 23850695 single base substitution C T intron_variant MELA-AU 2 23851140 23851140 single base substitution C T intron_variant MELA-AU 2 23851351 23851351 single base substitution C T intron_variant MELA-AU 2 23851676 23851676 single base substitution C T intron_variant MELA-AU 2 23852017 23852017 single base substitution G A intron_variant MELA-AU 2 23852087 23852087 single base substitution C T intron_variant MELA-AU 2 23852186 23852186 single base substitution G A intron_variant MELA-AU 2 23852410 23852410 single base substitution C T intron_variant MELA-AU 2 23852653 23852653 single base substitution G A intron_variant MELA-AU 2 23852692 23852692 single base substitution C T intron_variant MELA-AU 2 23852888 23852888 single base substitution C T intron_variant MELA-AU 2 23852948 23852948 single base substitution C T intron_variant MELA-AU 2 23853275 23853275 single base substitution C T intron_variant MELA-AU 2 23854169 23854169 single base substitution G A intron_variant MELA-AU 2 23854269 23854269 single base substitution G A intron_variant MELA-AU 2 23854939 23854940 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 23855151 23855151 single base substitution C T intron_variant MELA-AU 2 23855553 23855553 single base substitution G A intron_variant MELA-AU 2 23855636 23855636 single base substitution G A intron_variant MELA-AU 2 23856103 23856103 single base substitution C T intron_variant MELA-AU 2 23856107 23856107 single base substitution C T intron_variant MELA-AU 2 23856614 23856614 single base substitution A G intron_variant MELA-AU 2 23856782 23856782 single base substitution C T intron_variant MELA-AU 2 23857119 23857119 single base substitution G A intron_variant MELA-AU 2 23857127 23857127 single base substitution C T intron_variant MELA-AU 2 23857170 23857170 single base substitution C T intron_variant MELA-AU 2 23857453 23857454 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 23857532 23857532 single base substitution T C intron_variant MELA-AU 2 23858038 23858038 single base substitution G A intron_variant MELA-AU 2 23858269 23858269 single base substitution C T intron_variant MELA-AU 2 23858711 23858711 single base substitution T G intron_variant MELA-AU 2 23859349 23859349 single base substitution G A intron_variant MELA-AU 2 23859836 23859836 single base substitution G A intron_variant MELA-AU 2 23860271 23860271 single base substitution C T intron_variant MELA-AU 2 23860271 23860271 single base substitution C T upstream_gene_variant MELA-AU 2 23860370 23860370 single base substitution C T intron_variant MELA-AU 2 23860370 23860370 single base substitution C T upstream_gene_variant MELA-AU 2 23860648 23860648 single base substitution C T intron_variant MELA-AU 2 23860648 23860648 single base substitution C T upstream_gene_variant MELA-AU 2 23860689 23860689 single base substitution C T intron_variant MELA-AU 2 23860689 23860689 single base substitution C T upstream_gene_variant MELA-AU 2 23861024 23861024 single base substitution C T intron_variant MELA-AU 2 23861024 23861024 single base substitution C T upstream_gene_variant MELA-AU 2 23861290 23861290 single base substitution C T intron_variant MELA-AU 2 23861290 23861290 single base substitution C T upstream_gene_variant MELA-AU 2 23861738 23861738 single base substitution C T intron_variant MELA-AU 2 23861738 23861738 single base substitution C T upstream_gene_variant MELA-AU 2 23861840 23861840 single base substitution C T intron_variant MELA-AU 2 23861840 23861840 single base substitution C T upstream_gene_variant MELA-AU 2 23861935 23861935 single base substitution C T intron_variant MELA-AU 2 23861935 23861935 single base substitution C T upstream_gene_variant MELA-AU 2 23861936 23861936 single base substitution C T intron_variant MELA-AU 2 23861936 23861936 single base substitution C T upstream_gene_variant MELA-AU 2 23862053 23862053 single base substitution G A exon_variant MELA-AU 2 23862053 23862053 single base substitution G A synonymous_variant A110A 330G>A MELA-AU 2 23862053 23862053 single base substitution G A upstream_gene_variant MELA-AU 2 23862069 23862069 single base substitution G A exon_variant MELA-AU 2 23862069 23862069 single base substitution G A missense_variant G116R 346G>A MELA-AU 2 23862069 23862069 single base substitution G A upstream_gene_variant MELA-AU 2 23862259 23862259 single base substitution T G intron_variant MELA-AU 2 23862259 23862259 single base substitution T G upstream_gene_variant MELA-AU 2 23862548 23862548 single base substitution A G intron_variant MELA-AU 2 23862548 23862548 single base substitution A G upstream_gene_variant MELA-AU 2 23863665 23863665 single base substitution C T intron_variant MELA-AU 2 23863665 23863665 single base substitution C T upstream_gene_variant MELA-AU 2 23863850 23863850 single base substitution C T intron_variant MELA-AU 2 23863850 23863850 single base substitution C T upstream_gene_variant MELA-AU 2 23864253 23864253 single base substitution C T intron_variant MELA-AU 2 23864253 23864253 single base substitution C T upstream_gene_variant MELA-AU 2 23864283 23864283 single base substitution C T intron_variant MELA-AU 2 23864283 23864283 single base substitution C T upstream_gene_variant MELA-AU 2 23864325 23864325 single base substitution C T intron_variant MELA-AU 2 23864325 23864325 single base substitution C T upstream_gene_variant MELA-AU 2 23864366 23864366 single base substitution C T intron_variant MELA-AU 2 23864366 23864366 single base substitution C T upstream_gene_variant MELA-AU 2 23864486 23864486 single base substitution C T intron_variant MELA-AU 2 23864486 23864486 single base substitution C T upstream_gene_variant MELA-AU 2 23864919 23864919 single base substitution A G intron_variant MELA-AU 2 23864919 23864919 single base substitution A G upstream_gene_variant MELA-AU 2 23865078 23865078 single base substitution C T intron_variant MELA-AU 2 23865078 23865078 single base substitution C T upstream_gene_variant MELA-AU 2 23865315 23865315 single base substitution C T exon_variant MELA-AU 2 23865315 23865315 single base substitution C T stop_gained Q179* 535C>T MELA-AU 2 23865315 23865315 single base substitution C T stop_gained Q18* 52C>T MELA-AU 2 23865414 23865414 single base substitution C T exon_variant MELA-AU 2 23865414 23865414 single base substitution C T stop_gained Q212* 634C>T MELA-AU 2 23865414 23865414 single base substitution C T stop_gained Q51* 151C>T MELA-AU 2 23865515 23865515 single base substitution C T exon_variant MELA-AU 2 23865515 23865515 single base substitution C T synonymous_variant A245A 735C>T MELA-AU 2 23865515 23865515 single base substitution C T synonymous_variant A84A 252C>T MELA-AU 2 23865642 23865642 single base substitution G A exon_variant MELA-AU 2 23865642 23865642 single base substitution G A missense_variant D127N 379G>A MELA-AU 2 23865642 23865642 single base substitution G A missense_variant D288N 862G>A MELA-AU 2 23865835 23865835 single base substitution C T exon_variant MELA-AU 2 23865835 23865835 single base substitution C T intron_variant MELA-AU 2 23865873 23865873 single base substitution G A exon_variant MELA-AU 2 23865873 23865873 single base substitution G A intron_variant MELA-AU 2 23865990 23865990 single base substitution C T exon_variant MELA-AU 2 23865990 23865990 single base substitution C T intron_variant MELA-AU 2 23866010 23866011 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 2 23866010 23866011 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 23866129 23866129 single base substitution C T exon_variant MELA-AU 2 23866129 23866129 single base substitution C T intron_variant MELA-AU 2 23866453 23866453 single base substitution G A exon_variant MELA-AU 2 23866453 23866453 single base substitution G A intron_variant MELA-AU 2 23866760 23866760 single base substitution C G exon_variant MELA-AU 2 23866760 23866760 single base substitution C G intron_variant MELA-AU 2 23866839 23866839 single base substitution G A exon_variant MELA-AU 2 23866839 23866839 single base substitution G A intron_variant MELA-AU 2 23866951 23866951 single base substitution C T exon_variant MELA-AU 2 23866951 23866951 single base substitution C T intron_variant MELA-AU 2 23867188 23867188 single base substitution A T downstream_gene_variant MELA-AU 2 23867188 23867188 single base substitution A T intron_variant MELA-AU 2 23867249 23867249 single base substitution C T downstream_gene_variant MELA-AU 2 23867249 23867249 single base substitution C T intron_variant MELA-AU 2 23867452 23867452 single base substitution G A downstream_gene_variant MELA-AU 2 23867452 23867452 single base substitution G A intron_variant MELA-AU 2 23867566 23867566 single base substitution C T downstream_gene_variant MELA-AU 2 23867566 23867566 single base substitution C T intron_variant MELA-AU 2 23867669 23867669 single base substitution C T downstream_gene_variant MELA-AU 2 23867669 23867669 single base substitution C T intron_variant MELA-AU 2 23867683 23867683 single base substitution C T downstream_gene_variant MELA-AU 2 23867683 23867683 single base substitution C T intron_variant MELA-AU 2 23868271 23868271 single base substitution C T downstream_gene_variant MELA-AU 2 23868271 23868271 single base substitution C T intron_variant MELA-AU 2 23868958 23868958 single base substitution G A downstream_gene_variant MELA-AU 2 23868958 23868958 single base substitution G A intron_variant MELA-AU 2 23868963 23868963 single base substitution C T downstream_gene_variant MELA-AU 2 23868963 23868963 single base substitution C T intron_variant MELA-AU 2 23869463 23869463 single base substitution C T downstream_gene_variant MELA-AU 2 23869463 23869463 single base substitution C T intron_variant MELA-AU 2 23870138 23870138 single base substitution C T downstream_gene_variant MELA-AU 2 23870138 23870138 single base substitution C T intron_variant MELA-AU 2 23870377 23870377 single base substitution C T downstream_gene_variant MELA-AU 2 23870377 23870377 single base substitution C T intron_variant MELA-AU 2 23870408 23870408 single base substitution T G downstream_gene_variant MELA-AU 2 23870408 23870408 single base substitution T G intron_variant MELA-AU 2 23870435 23870435 single base substitution G A downstream_gene_variant MELA-AU 2 23870435 23870435 single base substitution G A intron_variant MELA-AU 2 23870769 23870769 single base substitution C T downstream_gene_variant MELA-AU 2 23870769 23870769 single base substitution C T intron_variant MELA-AU 2 23870842 23870842 single base substitution C A downstream_gene_variant MELA-AU 2 23870842 23870842 single base substitution C A intron_variant MELA-AU 2 23870963 23870963 single base substitution C T downstream_gene_variant MELA-AU 2 23870963 23870963 single base substitution C T intron_variant MELA-AU 2 23871106 23871106 single base substitution C T downstream_gene_variant MELA-AU 2 23871106 23871106 single base substitution C T intron_variant MELA-AU 2 23871447 23871447 single base substitution C T downstream_gene_variant MELA-AU 2 23871447 23871447 single base substitution C T intron_variant MELA-AU 2 23872074 23872074 single base substitution C T downstream_gene_variant MELA-AU 2 23872074 23872074 single base substitution C T intron_variant MELA-AU 2 23872288 23872288 single base substitution T C intron_variant MELA-AU 2 23872317 23872317 single base substitution G A intron_variant MELA-AU 2 23872349 23872349 single base substitution G A intron_variant MELA-AU 2 23872671 23872672 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 23872924 23872924 single base substitution A T intron_variant MELA-AU 2 23873559 23873559 single base substitution C T intron_variant MELA-AU 2 23873625 23873625 single base substitution C A intron_variant MELA-AU 2 23874418 23874418 single base substitution C T intron_variant MELA-AU 2 23875273 23875273 single base substitution C T intron_variant MELA-AU 2 23875361 23875361 single base substitution C T intron_variant MELA-AU 2 23875385 23875385 single base substitution C T intron_variant MELA-AU 2 23875718 23875718 single base substitution C T intron_variant MELA-AU 2 23875775 23875775 single base substitution C T intron_variant MELA-AU 2 23875949 23875949 single base substitution G A intron_variant MELA-AU 2 23876120 23876120 single base substitution C T intron_variant MELA-AU 2 23876594 23876594 single base substitution C T intron_variant MELA-AU 2 23877024 23877024 single base substitution G A intron_variant MELA-AU 2 23877049 23877049 single base substitution T A intron_variant MELA-AU 2 23878057 23878057 single base substitution C T intron_variant MELA-AU 2 23878970 23878970 single base substitution T A intron_variant MELA-AU 2 23879132 23879132 single base substitution C T intron_variant MELA-AU 2 23879631 23879631 single base substitution G A intron_variant MELA-AU 2 23879996 23879996 single base substitution C T intron_variant MELA-AU 2 23880728 23880728 single base substitution G A intron_variant MELA-AU 2 23880851 23880851 single base substitution C T intron_variant MELA-AU 2 23880919 23880919 single base substitution C T intron_variant MELA-AU 2 23881424 23881424 single base substitution G A intron_variant MELA-AU 2 23881695 23881695 single base substitution G A intron_variant MELA-AU 2 23881766 23881766 single base substitution C T intron_variant MELA-AU 2 23882246 23882246 single base substitution C T intron_variant MELA-AU 2 23882364 23882364 single base substitution C T intron_variant MELA-AU 2 23882499 23882499 single base substitution C T intron_variant MELA-AU 2 23882591 23882591 single base substitution C T intron_variant MELA-AU 2 23882601 23882601 single base substitution C T intron_variant MELA-AU 2 23882751 23882751 single base substitution C T intron_variant MELA-AU 2 23882902 23882902 single base substitution C T intron_variant MELA-AU 2 23883008 23883008 single base substitution C T intron_variant MELA-AU 2 23883265 23883265 single base substitution G A intron_variant MELA-AU 2 23883319 23883319 single base substitution G A intron_variant MELA-AU 2 23883401 23883401 single base substitution C T intron_variant MELA-AU 2 23883784 23883784 single base substitution C T intron_variant MELA-AU 2 23884993 23884993 single base substitution C T intron_variant MELA-AU 2 23885130 23885130 single base substitution T C intron_variant MELA-AU 2 23885265 23885265 single base substitution C T intron_variant MELA-AU 2 23885275 23885275 single base substitution C T intron_variant MELA-AU 2 23885470 23885470 single base substitution G A intron_variant MELA-AU 2 23886018 23886018 single base substitution C T intron_variant MELA-AU 2 23886722 23886722 single base substitution G A intron_variant MELA-AU 2 23886887 23886887 single base substitution G C intron_variant MELA-AU 2 23887179 23887180 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 23887545 23887545 single base substitution C T intron_variant MELA-AU 2 23887580 23887580 single base substitution C T intron_variant MELA-AU 2 23887716 23887716 single base substitution C T intron_variant MELA-AU 2 23887817 23887817 single base substitution G A intron_variant MELA-AU 2 23887821 23887821 single base substitution A G intron_variant MELA-AU 2 23888262 23888262 single base substitution G A intron_variant MELA-AU 2 23888673 23888673 single base substitution T G intron_variant MELA-AU 2 23889237 23889237 single base substitution C T intron_variant MELA-AU 2 23889333 23889333 single base substitution C T intron_variant MELA-AU 2 23889693 23889693 single base substitution C T intron_variant MELA-AU 2 23889778 23889778 single base substitution C T intron_variant MELA-AU 2 23890715 23890715 single base substitution A G intron_variant MELA-AU 2 23890726 23890726 single base substitution C T intron_variant MELA-AU 2 23890903 23890903 single base substitution C T intron_variant MELA-AU 2 23891069 23891069 single base substitution C T intron_variant MELA-AU 2 23891712 23891712 single base substitution C T intron_variant MELA-AU 2 23891752 23891752 single base substitution C T intron_variant MELA-AU 2 23891956 23891956 single base substitution G A intron_variant MELA-AU 2 23891958 23891958 single base substitution A G intron_variant MELA-AU 2 23892297 23892297 single base substitution C T intron_variant MELA-AU 2 23892875 23892875 single base substitution C G intron_variant MELA-AU 2 23893389 23893390 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 23893544 23893544 deletion of <=200bp A - intron_variant MELA-AU 2 23894446 23894446 single base substitution C T intron_variant MELA-AU 2 23895130 23895130 single base substitution C T intron_variant MELA-AU 2 23895404 23895404 single base substitution C T intron_variant MELA-AU 2 23895495 23895495 single base substitution C T intron_variant MELA-AU 2 23896116 23896116 single base substitution C T intron_variant MELA-AU 2 23896325 23896325 single base substitution A T intron_variant MELA-AU 2 23896996 23896996 single base substitution A G intron_variant MELA-AU 2 23897667 23897667 single base substitution C T intron_variant MELA-AU 2 23897800 23897800 single base substitution C T intron_variant MELA-AU 2 23897954 23897954 single base substitution C T intron_variant MELA-AU 2 23898509 23898509 single base substitution C T intron_variant MELA-AU 2 23898681 23898681 single base substitution G A intron_variant MELA-AU 2 23899259 23899282 deletion of <=200bp AGCCAGGATGGTCTTGATCTCCTG - intron_variant MELA-AU 2 23899309 23899309 single base substitution C T intron_variant MELA-AU 2 23899408 23899408 single base substitution C T intron_variant MELA-AU 2 23899523 23899523 single base substitution G A intron_variant MELA-AU 2 23900259 23900259 single base substitution G A intron_variant MELA-AU 2 23900501 23900501 single base substitution G A intron_variant MELA-AU 2 23900654 23900654 single base substitution C T intron_variant MELA-AU 2 23901032 23901032 single base substitution T G intron_variant MELA-AU 2 23901070 23901070 single base substitution C T intron_variant MELA-AU 2 23901206 23901206 single base substitution G A intron_variant MELA-AU 2 23901218 23901218 single base substitution C T intron_variant MELA-AU 2 23901592 23901592 single base substitution A T intron_variant MELA-AU 2 23901725 23901725 single base substitution T C intron_variant MELA-AU 2 23902389 23902389 single base substitution T C intron_variant MELA-AU 2 23903419 23903419 single base substitution C T intron_variant MELA-AU 2 23903558 23903558 single base substitution C T intron_variant MELA-AU 2 23904449 23904449 single base substitution C T intron_variant MELA-AU 2 23905218 23905218 single base substitution C T intron_variant MELA-AU 2 23905239 23905239 single base substitution G A intron_variant MELA-AU 2 23905473 23905473 single base substitution C T intron_variant MELA-AU 2 23905936 23905936 single base substitution C T intron_variant MELA-AU 2 23906191 23906191 single base substitution C T intron_variant MELA-AU 2 23906561 23906561 single base substitution C T intron_variant MELA-AU 2 23906668 23906668 single base substitution G A intron_variant MELA-AU 2 23906668 23906668 single base substitution G A upstream_gene_variant MELA-AU 2 23906813 23906813 single base substitution C T intron_variant MELA-AU 2 23906813 23906813 single base substitution C T upstream_gene_variant MELA-AU 2 23906820 23906820 single base substitution C T intron_variant MELA-AU 2 23906820 23906820 single base substitution C T upstream_gene_variant MELA-AU 2 23907325 23907325 single base substitution A T missense_variant I172F 514A>T MELA-AU 2 23907325 23907325 single base substitution A T missense_variant I333F 997A>T MELA-AU 2 23907325 23907325 single base substitution A T upstream_gene_variant MELA-AU 2 23907374 23907374 single base substitution C T missense_variant S188F 563C>T MELA-AU 2 23907374 23907374 single base substitution C T missense_variant S349F 1046C>T MELA-AU 2 23907374 23907374 single base substitution C T upstream_gene_variant MELA-AU 2 23908624 23908624 single base substitution C T intron_variant MELA-AU 2 23908624 23908624 single base substitution C T upstream_gene_variant MELA-AU 2 23908789 23908790 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 23908789 23908790 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 23909015 23909015 single base substitution G A intron_variant MELA-AU 2 23909015 23909015 single base substitution G A upstream_gene_variant MELA-AU 2 23909045 23909045 single base substitution G A intron_variant MELA-AU 2 23909045 23909045 single base substitution G A upstream_gene_variant MELA-AU 2 23909384 23909384 single base substitution G A intron_variant MELA-AU 2 23909384 23909384 single base substitution G A upstream_gene_variant MELA-AU 2 23909892 23909892 single base substitution G A intron_variant MELA-AU 2 23909892 23909892 single base substitution G A upstream_gene_variant MELA-AU 2 23911476 23911476 single base substitution C T intron_variant MELA-AU 2 23911476 23911476 single base substitution C T upstream_gene_variant MELA-AU 2 23912075 23912075 single base substitution G A exon_variant MELA-AU 2 23912075 23912075 single base substitution G A intron_variant MELA-AU 2 23912574 23912574 single base substitution G T exon_variant MELA-AU 2 23912574 23912574 single base substitution G T intron_variant MELA-AU 2 23912756 23912756 single base substitution G A exon_variant MELA-AU 2 23912756 23912756 single base substitution G A intron_variant MELA-AU 2 23913147 23913147 single base substitution C T exon_variant MELA-AU 2 23913147 23913147 single base substitution C T intron_variant MELA-AU 2 23913372 23913372 single base substitution G A exon_variant MELA-AU 2 23913372 23913372 single base substitution G A intron_variant MELA-AU 2 23913570 23913570 single base substitution G A exon_variant MELA-AU 2 23913570 23913570 single base substitution G A intron_variant MELA-AU 2 23913654 23913654 single base substitution G A exon_variant MELA-AU 2 23913654 23913654 single base substitution G A intron_variant MELA-AU 2 23913827 23913827 single base substitution G A exon_variant MELA-AU 2 23913827 23913827 single base substitution G A intron_variant MELA-AU 2 23914015 23914015 single base substitution G T exon_variant MELA-AU 2 23914015 23914015 single base substitution G T intron_variant MELA-AU 2 23914060 23914060 single base substitution C T exon_variant MELA-AU 2 23914060 23914060 single base substitution C T intron_variant MELA-AU 2 23914375 23914375 single base substitution C T exon_variant MELA-AU 2 23914375 23914375 single base substitution C T intron_variant MELA-AU 2 23914574 23914574 single base substitution G A exon_variant MELA-AU 2 23914574 23914574 single base substitution G A synonymous_variant R209R 627G>A MELA-AU 2 23914574 23914574 single base substitution G A synonymous_variant R370R 1110G>A MELA-AU 2 23915003 23915003 single base substitution G A intron_variant MELA-AU 2 23915249 23915249 single base substitution G A intron_variant MELA-AU 2 23915323 23915323 single base substitution G A intron_variant MELA-AU 2 23915951 23915951 single base substitution G A intron_variant MELA-AU 2 23915954 23915954 single base substitution G A intron_variant MELA-AU 2 23915998 23915998 single base substitution G A intron_variant MELA-AU 2 23916263 23916263 single base substitution G A exon_variant MELA-AU 2 23916263 23916263 single base substitution G A synonymous_variant Q308Q 924G>A MELA-AU 2 23916263 23916263 single base substitution G A synonymous_variant Q469Q 1407G>A MELA-AU 2 23916317 23916317 single base substitution C G exon_variant MELA-AU 2 23916317 23916317 single base substitution C G missense_variant D326E 978C>G MELA-AU 2 23916317 23916317 single base substitution C G missense_variant D487E 1461C>G MELA-AU 2 23918078 23918078 single base substitution C T intron_variant MELA-AU 2 23918248 23918248 single base substitution C T intron_variant MELA-AU 2 23918381 23918381 single base substitution C T intron_variant MELA-AU 2 23918948 23918948 single base substitution C T exon_variant MELA-AU 2 23918948 23918948 single base substitution C T synonymous_variant F462F 1386C>T MELA-AU 2 23918948 23918948 single base substitution C T synonymous_variant F623F 1869C>T MELA-AU 2 23921182 23921182 single base substitution G A downstream_gene_variant MELA-AU 2 23921182 23921182 single base substitution G A intron_variant MELA-AU 2 23921816 23921816 single base substitution C T downstream_gene_variant MELA-AU 2 23921816 23921816 single base substitution C T intron_variant MELA-AU 2 23921835 23921835 single base substitution G A downstream_gene_variant MELA-AU 2 23921835 23921835 single base substitution G A intron_variant MELA-AU 2 23922066 23922066 single base substitution T A downstream_gene_variant MELA-AU 2 23922066 23922066 single base substitution T A intron_variant MELA-AU 2 23922777 23922778 multiple base substitution (>=2bp and <=200bp) TC GT downstream_gene_variant MELA-AU 2 23922777 23922778 multiple base substitution (>=2bp and <=200bp) TC GT intron_variant MELA-AU 2 23923140 23923140 single base substitution G A downstream_gene_variant MELA-AU 2 23923140 23923140 single base substitution G A intron_variant MELA-AU 2 23923788 23923788 single base substitution C T downstream_gene_variant MELA-AU 2 23923788 23923788 single base substitution C T intron_variant MELA-AU 2 23925642 23925642 single base substitution C T downstream_gene_variant MELA-AU 2 23925642 23925642 single base substitution C T intron_variant MELA-AU 2 23926849 23926849 single base substitution T C intron_variant MELA-AU 2 23926901 23926901 single base substitution G C intron_variant MELA-AU 2 23926984 23926984 single base substitution G A intron_variant MELA-AU 2 23930790 23930791 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 2 23930790 23930791 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 2 23931381 23931381 single base substitution G A 3_prime_UTR_variant MELA-AU 2 23931381 23931381 single base substitution G A exon_variant MELA-AU 2 23931872 23931872 single base substitution G A downstream_gene_variant MELA-AU 2 23932324 23932324 single base substitution G A downstream_gene_variant MELA-AU 2 23932350 23932350 single base substitution G A downstream_gene_variant MELA-AU 2 23934209 23934209 single base substitution T A downstream_gene_variant MELA-AU 2 23936261 23936261 single base substitution T A downstream_gene_variant MELA-AU 2 23936283 23936283 single base substitution T A downstream_gene_variant ORCA-IN 2 23624410 23624410 single base substitution C T intron_variant ORCA-IN 2 23634836 23634836 deletion of <=200bp C - intron_variant ORCA-IN 2 23653038 23653038 single base substitution T G intron_variant ORCA-IN 2 23681371 23681371 single base substitution C T intron_variant ORCA-IN 2 23699616 23699616 single base substitution A C intron_variant ORCA-IN 2 23710539 23710539 single base substitution G A intron_variant ORCA-IN 2 23723468 23723468 single base substitution G A intron_variant ORCA-IN 2 23725501 23725501 single base substitution C T intron_variant ORCA-IN 2 23737332 23737332 single base substitution G T intron_variant ORCA-IN 2 23745572 23745573 deletion of <=200bp GA - intron_variant ORCA-IN 2 23773051 23773051 single base substitution G T intron_variant ORCA-IN 2 23774714 23774714 single base substitution A G intron_variant ORCA-IN 2 23782177 23782177 single base substitution G A intron_variant ORCA-IN 2 23782845 23782845 single base substitution T A intron_variant ORCA-IN 2 23784793 23784793 single base substitution C T intron_variant ORCA-IN 2 23786512 23786512 single base substitution G A intron_variant ORCA-IN 2 23813451 23813451 single base substitution C T intron_variant ORCA-IN 2 23825751 23825751 single base substitution G A intron_variant ORCA-IN 2 23827088 23827088 single base substitution C G intron_variant ORCA-IN 2 23838633 23838633 single base substitution G A intron_variant ORCA-IN 2 23868206 23868206 single base substitution C T downstream_gene_variant ORCA-IN 2 23868206 23868206 single base substitution C T intron_variant ORCA-IN 2 23876951 23876951 single base substitution C T intron_variant ORCA-IN 2 23915848 23915848 single base substitution C A intron_variant ORCA-IN 2 23929413 23929413 single base substitution C A exon_variant ORCA-IN 2 23929413 23929413 single base substitution C A missense_variant A836E 2507C>A OV-AU 2 23606474 23606474 single base substitution C G upstream_gene_variant OV-AU 2 23607184 23607184 single base substitution G A upstream_gene_variant OV-AU 2 23612006 23612006 single base substitution G C intron_variant OV-AU 2 23612486 23612486 single base substitution A G intron_variant OV-AU 2 23613135 23613135 single base substitution T A intron_variant OV-AU 2 23617015 23617015 single base substitution G A intron_variant OV-AU 2 23619226 23619226 single base substitution C T intron_variant OV-AU 2 23626296 23626296 single base substitution G T intron_variant OV-AU 2 23626603 23626603 single base substitution T A intron_variant OV-AU 2 23635739 23635739 single base substitution C T intron_variant OV-AU 2 23640420 23640420 single base substitution A T intron_variant OV-AU 2 23640846 23640846 single base substitution G A intron_variant OV-AU 2 23644673 23644673 single base substitution G T intron_variant OV-AU 2 23647840 23647840 single base substitution G T intron_variant OV-AU 2 23649365 23649365 single base substitution C G intron_variant OV-AU 2 23650160 23650160 single base substitution C T intron_variant OV-AU 2 23654730 23654730 single base substitution G A intron_variant OV-AU 2 23658364 23658364 single base substitution G A intron_variant OV-AU 2 23662235 23662235 single base substitution G A intron_variant OV-AU 2 23662979 23662979 single base substitution G A intron_variant OV-AU 2 23664696 23664696 single base substitution A T intron_variant OV-AU 2 23664722 23664722 single base substitution T A intron_variant OV-AU 2 23666504 23666504 single base substitution G C intron_variant OV-AU 2 23668314 23668314 single base substitution A C intron_variant OV-AU 2 23676806 23676806 single base substitution C A intron_variant OV-AU 2 23677189 23677189 single base substitution A T intron_variant OV-AU 2 23677277 23677277 single base substitution C G intron_variant OV-AU 2 23679272 23679272 single base substitution C G intron_variant OV-AU 2 23683407 23683407 single base substitution G C intron_variant OV-AU 2 23688458 23688458 single base substitution G A intron_variant OV-AU 2 23691953 23691953 single base substitution C T intron_variant OV-AU 2 23693415 23693415 single base substitution G T intron_variant OV-AU 2 23697636 23697636 single base substitution C T intron_variant OV-AU 2 23703598 23703598 single base substitution A G intron_variant OV-AU 2 23710400 23710400 single base substitution T A intron_variant OV-AU 2 23711260 23711260 single base substitution G C intron_variant OV-AU 2 23711968 23711968 single base substitution T C intron_variant OV-AU 2 23716326 23716326 single base substitution A G intron_variant OV-AU 2 23716979 23716979 single base substitution T C intron_variant OV-AU 2 23721740 23721740 single base substitution G T intron_variant OV-AU 2 23723295 23723295 single base substitution A G intron_variant OV-AU 2 23729980 23729980 single base substitution C T intron_variant OV-AU 2 23734329 23734329 single base substitution C A intron_variant OV-AU 2 23739623 23739623 single base substitution G T intron_variant OV-AU 2 23740336 23740336 single base substitution C T intron_variant OV-AU 2 23740568 23740568 single base substitution G T intron_variant OV-AU 2 23740934 23740934 single base substitution T G intron_variant OV-AU 2 23741936 23741936 single base substitution C T intron_variant OV-AU 2 23743820 23743820 single base substitution C G intron_variant OV-AU 2 23749160 23749160 single base substitution G A intron_variant OV-AU 2 23755567 23755567 single base substitution G T intron_variant OV-AU 2 23756146 23756146 single base substitution C A intron_variant OV-AU 2 23756669 23756669 single base substitution T C intron_variant OV-AU 2 23756690 23756690 single base substitution C T intron_variant OV-AU 2 23757233 23757233 single base substitution A G intron_variant OV-AU 2 23770929 23770929 single base substitution C G intron_variant OV-AU 2 23772590 23772590 single base substitution G A intron_variant OV-AU 2 23772958 23772958 single base substitution C G intron_variant OV-AU 2 23780794 23780794 single base substitution C G intron_variant OV-AU 2 23782941 23782941 single base substitution G A intron_variant OV-AU 2 23783170 23783170 single base substitution C A intron_variant OV-AU 2 23789519 23789519 single base substitution G C intron_variant OV-AU 2 23794069 23794069 single base substitution C A intron_variant OV-AU 2 23794851 23794851 single base substitution C G intron_variant OV-AU 2 23805618 23805618 single base substitution C A intron_variant OV-AU 2 23810313 23810313 single base substitution C A intron_variant OV-AU 2 23810804 23810804 single base substitution C G intron_variant OV-AU 2 23811947 23811947 single base substitution C A intron_variant OV-AU 2 23813429 23813429 single base substitution G A intron_variant OV-AU 2 23823552 23823552 single base substitution T C intron_variant OV-AU 2 23829164 23829164 single base substitution A G intron_variant OV-AU 2 23837912 23837912 single base substitution C A intron_variant OV-AU 2 23839714 23839714 single base substitution C A intron_variant OV-AU 2 23851800 23851800 single base substitution G T intron_variant OV-AU 2 23853977 23853977 single base substitution C T intron_variant OV-AU 2 23856039 23856039 single base substitution G A intron_variant OV-AU 2 23856728 23856728 single base substitution C G intron_variant OV-AU 2 23867271 23867271 single base substitution C A downstream_gene_variant OV-AU 2 23867271 23867271 single base substitution C A intron_variant OV-AU 2 23867294 23867294 single base substitution G A downstream_gene_variant OV-AU 2 23867294 23867294 single base substitution G A intron_variant OV-AU 2 23873378 23873378 single base substitution G A intron_variant OV-AU 2 23882130 23882130 single base substitution A G intron_variant OV-AU 2 23882237 23882237 single base substitution A G intron_variant OV-AU 2 23889903 23889903 single base substitution C A intron_variant OV-AU 2 23892641 23892641 single base substitution G C intron_variant OV-AU 2 23895307 23895307 single base substitution G C intron_variant OV-AU 2 23897576 23897576 single base substitution A C intron_variant OV-AU 2 23922193 23922193 single base substitution A T downstream_gene_variant OV-AU 2 23922193 23922193 single base substitution A T intron_variant OV-AU 2 23923542 23923542 single base substitution C T downstream_gene_variant OV-AU 2 23923542 23923542 single base substitution C T intron_variant OV-AU 2 23925724 23925724 single base substitution G C downstream_gene_variant OV-AU 2 23925724 23925724 single base substitution G C intron_variant OV-AU 2 23926060 23926060 single base substitution G A exon_variant OV-AU 2 23926060 23926060 single base substitution G A missense_variant D704N 2110G>A OV-AU 2 23931377 23931377 single base substitution G A 3_prime_UTR_variant OV-AU 2 23931377 23931377 single base substitution G A exon_variant PACA-AU 2 23606831 23606831 single base substitution G C upstream_gene_variant PACA-AU 2 23612571 23612571 single base substitution G A intron_variant PACA-AU 2 23613668 23613668 single base substitution G A intron_variant PACA-AU 2 23620431 23620431 single base substitution C G intron_variant PACA-AU 2 23626583 23626583 insertion of <=200bp - AG intron_variant PACA-AU 2 23627611 23627611 single base substitution C T intron_variant PACA-AU 2 23639813 23639813 single base substitution C T intron_variant PACA-AU 2 23641375 23641375 single base substitution G A intron_variant PACA-AU 2 23647381 23647384 deletion of <=200bp ATTT - intron_variant PACA-AU 2 23650077 23650077 deletion of <=200bp G - intron_variant PACA-AU 2 23652648 23652648 single base substitution A T intron_variant PACA-AU 2 23674032 23674045 deletion of <=200bp TAAAAACTGGTTTG - intron_variant PACA-AU 2 23676817 23676817 single base substitution G A intron_variant PACA-AU 2 23677871 23677871 deletion of <=200bp T - intron_variant PACA-AU 2 23679952 23679952 single base substitution C A intron_variant PACA-AU 2 23680497 23680497 single base substitution A G intron_variant PACA-AU 2 23681570 23681570 single base substitution G A intron_variant PACA-AU 2 23685418 23685418 single base substitution G A intron_variant PACA-AU 2 23686038 23686038 single base substitution G C intron_variant PACA-AU 2 23690245 23690245 single base substitution G C intron_variant PACA-AU 2 23692517 23692517 single base substitution G A intron_variant PACA-AU 2 23692711 23692711 single base substitution T C intron_variant PACA-AU 2 23692748 23692748 single base substitution C T intron_variant PACA-AU 2 23692865 23692865 deletion of <=200bp G - intron_variant PACA-AU 2 23693895 23693895 single base substitution G A intron_variant PACA-AU 2 23694827 23694827 single base substitution T C intron_variant PACA-AU 2 23697390 23697390 single base substitution T A intron_variant PACA-AU 2 23701185 23701185 single base substitution C T intron_variant PACA-AU 2 23703132 23703132 single base substitution G A intron_variant PACA-AU 2 23709417 23709417 single base substitution C A intron_variant PACA-AU 2 23709418 23709418 single base substitution C A intron_variant PACA-AU 2 23715747 23715747 single base substitution C T intron_variant PACA-AU 2 23716528 23716528 single base substitution C T intron_variant PACA-AU 2 23719329 23719329 single base substitution A C intron_variant PACA-AU 2 23722363 23722363 single base substitution A G intron_variant PACA-AU 2 23724956 23724976 deletion of <=200bp CAGGTTGTAGTGCTCCTGGCT - intron_variant PACA-AU 2 23726531 23726531 single base substitution G A intron_variant PACA-AU 2 23727214 23727214 single base substitution G A intron_variant PACA-AU 2 23729611 23729611 single base substitution C T intron_variant PACA-AU 2 23732385 23732385 single base substitution G T intron_variant PACA-AU 2 23734636 23734636 single base substitution C T intron_variant PACA-AU 2 23735614 23735614 single base substitution C T intron_variant PACA-AU 2 23736305 23736305 single base substitution G A intron_variant PACA-AU 2 23737716 23737716 single base substitution G A intron_variant PACA-AU 2 23737903 23737903 single base substitution C G intron_variant PACA-AU 2 23741364 23741364 single base substitution G T intron_variant PACA-AU 2 23749493 23749493 single base substitution A G intron_variant PACA-AU 2 23751948 23751948 single base substitution G A intron_variant PACA-AU 2 23751948 23751948 single base substitution G A upstream_gene_variant PACA-AU 2 23754016 23754016 single base substitution C A intron_variant PACA-AU 2 23754016 23754016 single base substitution C A upstream_gene_variant PACA-AU 2 23763196 23763196 single base substitution C T intron_variant PACA-AU 2 23768029 23768030 deletion of <=200bp GA - intron_variant PACA-AU 2 23769704 23769704 single base substitution C G intron_variant PACA-AU 2 23772333 23772333 single base substitution T C intron_variant PACA-AU 2 23775059 23775059 single base substitution C T intron_variant PACA-AU 2 23780704 23780704 single base substitution G C intron_variant PACA-AU 2 23781554 23781554 single base substitution G A intron_variant PACA-AU 2 23782883 23782883 single base substitution G C intron_variant PACA-AU 2 23783878 23783878 single base substitution G A intron_variant PACA-AU 2 23783924 23783924 single base substitution G T intron_variant PACA-AU 2 23785122 23785122 single base substitution G A exon_variant PACA-AU 2 23785122 23785122 single base substitution G A missense_variant R19H 56G>A PACA-AU 2 23785423 23785423 single base substitution C T intron_variant PACA-AU 2 23788862 23788862 single base substitution C T intron_variant PACA-AU 2 23789107 23789107 single base substitution C T intron_variant PACA-AU 2 23799313 23799313 single base substitution G T intron_variant PACA-AU 2 23800788 23800788 single base substitution C T intron_variant PACA-AU 2 23802385 23802385 single base substitution C T intron_variant PACA-AU 2 23803804 23803804 single base substitution C T intron_variant PACA-AU 2 23803864 23803864 single base substitution A G intron_variant PACA-AU 2 23807751 23807751 single base substitution C T intron_variant PACA-AU 2 23808621 23808621 single base substitution G A intron_variant PACA-AU 2 23810641 23810641 deletion of <=200bp A - intron_variant PACA-AU 2 23813552 23813552 single base substitution C G intron_variant PACA-AU 2 23816739 23816739 single base substitution C T intron_variant PACA-AU 2 23818829 23818829 single base substitution C T intron_variant PACA-AU 2 23826093 23826093 single base substitution G C intron_variant PACA-AU 2 23827700 23827700 single base substitution G A intron_variant PACA-AU 2 23828366 23828366 single base substitution C T intron_variant PACA-AU 2 23836411 23836411 single base substitution G A intron_variant PACA-AU 2 23840356 23840356 single base substitution A G intron_variant PACA-AU 2 23841022 23841022 single base substitution A C intron_variant PACA-AU 2 23843966 23843966 single base substitution C T intron_variant PACA-AU 2 23848425 23848425 single base substitution C T intron_variant PACA-AU 2 23852230 23852230 single base substitution G A intron_variant PACA-AU 2 23853756 23853756 single base substitution C T intron_variant PACA-AU 2 23855231 23855231 single base substitution A T intron_variant PACA-AU 2 23859366 23859366 single base substitution G T intron_variant PACA-AU 2 23860574 23860574 deletion of <=200bp A - intron_variant PACA-AU 2 23860574 23860574 deletion of <=200bp A - upstream_gene_variant PACA-AU 2 23869281 23869281 single base substitution A T downstream_gene_variant PACA-AU 2 23869281 23869281 single base substitution A T intron_variant PACA-AU 2 23873447 23873447 single base substitution T G intron_variant PACA-AU 2 23874656 23874656 single base substitution C A intron_variant PACA-AU 2 23875975 23875975 single base substitution G A intron_variant PACA-AU 2 23876461 23876461 single base substitution C T intron_variant PACA-AU 2 23877570 23877570 insertion of <=200bp - GC intron_variant PACA-AU 2 23878234 23878234 single base substitution T A intron_variant PACA-AU 2 23879005 23879005 single base substitution G A intron_variant PACA-AU 2 23881339 23881339 deletion of <=200bp C - intron_variant PACA-AU 2 23881520 23881520 single base substitution C T intron_variant PACA-AU 2 23884509 23884509 single base substitution G T intron_variant PACA-AU 2 23885435 23885435 single base substitution C T intron_variant PACA-AU 2 23885639 23885639 single base substitution T A intron_variant PACA-AU 2 23887433 23887433 single base substitution G A intron_variant PACA-AU 2 23889127 23889127 single base substitution C T intron_variant PACA-AU 2 23891093 23891093 single base substitution G A intron_variant PACA-AU 2 23892975 23892975 single base substitution A G intron_variant PACA-AU 2 23894717 23894717 single base substitution C T intron_variant PACA-AU 2 23896050 23896050 single base substitution C T intron_variant PACA-AU 2 23896365 23896365 single base substitution G A intron_variant PACA-AU 2 23899459 23899459 single base substitution G C intron_variant PACA-AU 2 23901505 23901505 single base substitution C T intron_variant PACA-AU 2 23903308 23903308 single base substitution G T intron_variant PACA-AU 2 23903770 23903770 single base substitution C T intron_variant PACA-AU 2 23905859 23905859 single base substitution C T intron_variant PACA-AU 2 23908273 23908273 single base substitution G A intron_variant PACA-AU 2 23908273 23908273 single base substitution G A upstream_gene_variant PACA-AU 2 23909451 23909451 single base substitution C T intron_variant PACA-AU 2 23909451 23909451 single base substitution C T upstream_gene_variant PACA-AU 2 23910625 23910625 single base substitution G A intron_variant PACA-AU 2 23910625 23910625 single base substitution G A upstream_gene_variant PACA-AU 2 23912348 23912348 single base substitution G A exon_variant PACA-AU 2 23912348 23912348 single base substitution G A intron_variant PACA-AU 2 23912827 23912827 single base substitution C A exon_variant PACA-AU 2 23912827 23912827 single base substitution C A intron_variant PACA-AU 2 23918490 23918490 single base substitution C T splice_region_variant PACA-AU 2 23918905 23918905 single base substitution A G exon_variant PACA-AU 2 23918905 23918905 single base substitution A G missense_variant N448S 1343A>G PACA-AU 2 23918905 23918905 single base substitution A G missense_variant N609S 1826A>G PACA-AU 2 23921261 23921261 single base substitution G T downstream_gene_variant PACA-AU 2 23921261 23921261 single base substitution G T intron_variant PACA-CA 2 23603535 23603535 deletion of <=200bp A - upstream_gene_variant PACA-CA 2 23603571 23603571 deletion of <=200bp A - upstream_gene_variant PACA-CA 2 23608880 23608880 single base substitution A G intron_variant PACA-CA 2 23612570 23612570 insertion of <=200bp - G intron_variant PACA-CA 2 23613316 23613316 single base substitution G T intron_variant PACA-CA 2 23613955 23613955 single base substitution G A intron_variant PACA-CA 2 23617177 23617177 single base substitution T C intron_variant PACA-CA 2 23620575 23620575 single base substitution G T intron_variant PACA-CA 2 23622638 23622638 single base substitution G T intron_variant PACA-CA 2 23630297 23630297 single base substitution C T intron_variant PACA-CA 2 23632219 23632219 single base substitution G A intron_variant PACA-CA 2 23636522 23636522 single base substitution A G intron_variant PACA-CA 2 23639177 23639177 single base substitution T G intron_variant PACA-CA 2 23642011 23642011 single base substitution C T intron_variant PACA-CA 2 23642866 23642866 single base substitution G A intron_variant PACA-CA 2 23643883 23643883 single base substitution G T intron_variant PACA-CA 2 23645552 23645552 single base substitution T C intron_variant PACA-CA 2 23647227 23647227 single base substitution C T intron_variant PACA-CA 2 23650161 23650161 single base substitution G A intron_variant PACA-CA 2 23652436 23652436 single base substitution C T intron_variant PACA-CA 2 23652904 23652904 single base substitution T G intron_variant PACA-CA 2 23653661 23653661 single base substitution A C intron_variant PACA-CA 2 23654502 23654502 single base substitution G A intron_variant PACA-CA 2 23655262 23655262 insertion of <=200bp - T intron_variant PACA-CA 2 23655806 23655806 single base substitution G A intron_variant PACA-CA 2 23656279 23656279 single base substitution C A intron_variant PACA-CA 2 23656365 23656365 single base substitution A G intron_variant PACA-CA 2 23657986 23657986 single base substitution G T intron_variant PACA-CA 2 23661360 23661360 single base substitution A G intron_variant PACA-CA 2 23661996 23661996 single base substitution T C intron_variant PACA-CA 2 23662270 23662270 single base substitution T A intron_variant PACA-CA 2 23664804 23664804 single base substitution C G intron_variant PACA-CA 2 23669299 23669299 single base substitution C A intron_variant PACA-CA 2 23669306 23669306 single base substitution G A intron_variant PACA-CA 2 23669684 23669684 single base substitution T C intron_variant PACA-CA 2 23674421 23674421 single base substitution G T intron_variant PACA-CA 2 23674969 23674969 single base substitution A G intron_variant PACA-CA 2 23675673 23675676 deletion of <=200bp TACT - intron_variant PACA-CA 2 23679987 23679987 single base substitution C T intron_variant PACA-CA 2 23687402 23687402 single base substitution C T intron_variant PACA-CA 2 23689573 23689573 insertion of <=200bp - T intron_variant PACA-CA 2 23691065 23691065 single base substitution G A intron_variant PACA-CA 2 23692011 23692011 single base substitution G A intron_variant PACA-CA 2 23692759 23692759 single base substitution C T intron_variant PACA-CA 2 23692926 23692926 deletion of <=200bp T - intron_variant PACA-CA 2 23692971 23692971 single base substitution T G intron_variant PACA-CA 2 23694417 23694431 deletion of <=200bp AATTAACATCTCTTG - intron_variant PACA-CA 2 23698634 23698634 single base substitution G T intron_variant PACA-CA 2 23700054 23700054 single base substitution C T intron_variant PACA-CA 2 23700293 23700293 single base substitution C T intron_variant PACA-CA 2 23702385 23702385 single base substitution G A intron_variant PACA-CA 2 23706579 23706579 single base substitution A T intron_variant PACA-CA 2 23709326 23709326 single base substitution T A intron_variant PACA-CA 2 23709997 23709997 single base substitution C A intron_variant PACA-CA 2 23710184 23710184 single base substitution G A intron_variant PACA-CA 2 23711786 23711786 single base substitution G C intron_variant PACA-CA 2 23715504 23715504 single base substitution G A intron_variant PACA-CA 2 23715823 23715823 single base substitution C T intron_variant PACA-CA 2 23720162 23720162 single base substitution G T intron_variant PACA-CA 2 23721948 23721948 single base substitution T C intron_variant PACA-CA 2 23724284 23724284 single base substitution C T intron_variant PACA-CA 2 23724890 23724890 single base substitution C T intron_variant PACA-CA 2 23727233 23727233 insertion of <=200bp - G intron_variant PACA-CA 2 23729487 23729487 single base substitution A C intron_variant PACA-CA 2 23731580 23731580 single base substitution T A intron_variant PACA-CA 2 23731794 23731797 deletion of <=200bp ACTT - intron_variant PACA-CA 2 23732860 23732860 single base substitution C A intron_variant PACA-CA 2 23732926 23732926 single base substitution C T intron_variant PACA-CA 2 23734555 23734555 single base substitution C G intron_variant PACA-CA 2 23742039 23742039 single base substitution C T intron_variant PACA-CA 2 23745139 23745139 single base substitution G C intron_variant PACA-CA 2 23746848 23746848 single base substitution T A intron_variant PACA-CA 2 23746898 23746898 deletion of <=200bp T - intron_variant PACA-CA 2 23747095 23747095 single base substitution G T intron_variant PACA-CA 2 23747345 23747345 single base substitution G A intron_variant PACA-CA 2 23750500 23750500 single base substitution G A intron_variant PACA-CA 2 23750500 23750500 single base substitution G A upstream_gene_variant PACA-CA 2 23750507 23750507 single base substitution G A intron_variant PACA-CA 2 23750507 23750507 single base substitution G A upstream_gene_variant PACA-CA 2 23750571 23750571 single base substitution G A intron_variant PACA-CA 2 23750571 23750571 single base substitution G A upstream_gene_variant PACA-CA 2 23751189 23751189 single base substitution G A intron_variant PACA-CA 2 23751189 23751189 single base substitution G A upstream_gene_variant PACA-CA 2 23752033 23752033 single base substitution G A intron_variant PACA-CA 2 23752033 23752033 single base substitution G A upstream_gene_variant PACA-CA 2 23756619 23756619 single base substitution T C intron_variant PACA-CA 2 23756802 23756802 single base substitution G C intron_variant PACA-CA 2 23761071 23761071 single base substitution C T intron_variant PACA-CA 2 23762486 23762486 deletion of <=200bp T - intron_variant PACA-CA 2 23762722 23762722 single base substitution A G intron_variant PACA-CA 2 23764198 23764212 deletion of <=200bp CTATGGAGAAGGCCA - intron_variant PACA-CA 2 23764390 23764392 deletion of <=200bp GTG - intron_variant PACA-CA 2 23764397 23764403 deletion of <=200bp GTGCCTG - intron_variant PACA-CA 2 23764581 23764581 deletion of <=200bp G - intron_variant PACA-CA 2 23767069 23767069 single base substitution C T intron_variant PACA-CA 2 23769618 23769618 single base substitution G T intron_variant PACA-CA 2 23771368 23771368 single base substitution A G intron_variant PACA-CA 2 23773044 23773044 single base substitution G A intron_variant PACA-CA 2 23775384 23775384 single base substitution G A intron_variant PACA-CA 2 23775567 23775567 single base substitution C T intron_variant PACA-CA 2 23777293 23777293 single base substitution G C intron_variant PACA-CA 2 23778444 23778444 single base substitution G A intron_variant PACA-CA 2 23778736 23778736 single base substitution T C intron_variant PACA-CA 2 23779840 23779840 single base substitution C T intron_variant PACA-CA 2 23781554 23781554 single base substitution G A intron_variant PACA-CA 2 23782547 23782547 single base substitution G A intron_variant PACA-CA 2 23783877 23783877 single base substitution C T intron_variant PACA-CA 2 23785133 23785133 single base substitution G A exon_variant PACA-CA 2 23785133 23785133 single base substitution G A missense_variant V23I 67G>A PACA-CA 2 23785133 23785133 single base substitution G C exon_variant PACA-CA 2 23785133 23785133 single base substitution G C missense_variant V23L 67G>C PACA-CA 2 23790996 23790996 single base substitution G T intron_variant PACA-CA 2 23793706 23793706 single base substitution T A intron_variant PACA-CA 2 23794250 23794250 single base substitution G T intron_variant PACA-CA 2 23794264 23794264 single base substitution C T intron_variant PACA-CA 2 23794333 23794333 single base substitution G T intron_variant PACA-CA 2 23794533 23794533 single base substitution C T intron_variant PACA-CA 2 23795758 23795758 single base substitution G C intron_variant PACA-CA 2 23796804 23796804 single base substitution G A intron_variant PACA-CA 2 23801832 23801832 single base substitution G A intron_variant PACA-CA 2 23802041 23802041 single base substitution T G intron_variant PACA-CA 2 23804971 23804971 single base substitution C T intron_variant PACA-CA 2 23806584 23806584 single base substitution G A intron_variant PACA-CA 2 23806695 23806695 single base substitution A T intron_variant PACA-CA 2 23807109 23807109 single base substitution T C intron_variant PACA-CA 2 23809474 23809474 single base substitution G A intron_variant PACA-CA 2 23809979 23809979 single base substitution G A intron_variant PACA-CA 2 23810849 23810849 single base substitution C T intron_variant PACA-CA 2 23815889 23815889 single base substitution C T intron_variant PACA-CA 2 23816466 23816466 single base substitution C T intron_variant PACA-CA 2 23817667 23817667 single base substitution A G intron_variant PACA-CA 2 23817729 23817729 single base substitution A G intron_variant PACA-CA 2 23818439 23818439 single base substitution C T intron_variant PACA-CA 2 23820152 23820152 single base substitution A C intron_variant PACA-CA 2 23831925 23831925 single base substitution A G intron_variant PACA-CA 2 23832509 23832509 single base substitution G A intron_variant PACA-CA 2 23840157 23840157 single base substitution G A intron_variant PACA-CA 2 23840758 23840758 single base substitution C T intron_variant PACA-CA 2 23842131 23842131 single base substitution T C intron_variant PACA-CA 2 23846205 23846205 single base substitution G A intron_variant PACA-CA 2 23846840 23846840 single base substitution C T intron_variant PACA-CA 2 23848448 23848448 single base substitution C T intron_variant PACA-CA 2 23850461 23850461 single base substitution C T intron_variant PACA-CA 2 23852968 23852968 single base substitution G C intron_variant PACA-CA 2 23853521 23853521 insertion of <=200bp - T intron_variant PACA-CA 2 23853523 23853523 single base substitution T G intron_variant PACA-CA 2 23860135 23860135 single base substitution C T intron_variant PACA-CA 2 23861505 23861505 single base substitution C T intron_variant PACA-CA 2 23861505 23861505 single base substitution C T upstream_gene_variant PACA-CA 2 23865131 23865131 single base substitution T G intron_variant PACA-CA 2 23865131 23865131 single base substitution T G upstream_gene_variant PACA-CA 2 23865943 23865943 single base substitution G A exon_variant PACA-CA 2 23865943 23865943 single base substitution G A intron_variant PACA-CA 2 23867136 23867136 single base substitution T A exon_variant PACA-CA 2 23867136 23867136 single base substitution T A intron_variant PACA-CA 2 23868677 23868677 single base substitution G A downstream_gene_variant PACA-CA 2 23868677 23868677 single base substitution G A intron_variant PACA-CA 2 23875637 23875637 single base substitution C T intron_variant PACA-CA 2 23877050 23877050 single base substitution A T intron_variant PACA-CA 2 23877444 23877444 single base substitution C T intron_variant PACA-CA 2 23879431 23879431 single base substitution C T intron_variant PACA-CA 2 23881092 23881092 single base substitution T C intron_variant PACA-CA 2 23882249 23882249 single base substitution T G intron_variant PACA-CA 2 23882390 23882390 single base substitution G A intron_variant PACA-CA 2 23882490 23882490 single base substitution A T intron_variant PACA-CA 2 23884407 23884407 single base substitution G A intron_variant PACA-CA 2 23885934 23885934 single base substitution C T intron_variant PACA-CA 2 23886484 23886484 single base substitution G T intron_variant PACA-CA 2 23889148 23889148 single base substitution C A intron_variant PACA-CA 2 23892012 23892012 insertion of <=200bp - C intron_variant PACA-CA 2 23893787 23893787 single base substitution G T intron_variant PACA-CA 2 23894200 23894200 single base substitution C T intron_variant PACA-CA 2 23900673 23900673 single base substitution C T intron_variant PACA-CA 2 23902781 23902781 single base substitution G A intron_variant PACA-CA 2 23903420 23903420 single base substitution C T intron_variant PACA-CA 2 23903995 23903995 single base substitution G C intron_variant PACA-CA 2 23904705 23904705 single base substitution C A intron_variant PACA-CA 2 23905095 23905095 single base substitution G A intron_variant PACA-CA 2 23905745 23905745 single base substitution C T intron_variant PACA-CA 2 23907893 23907893 single base substitution C T intron_variant PACA-CA 2 23907893 23907893 single base substitution C T upstream_gene_variant PACA-CA 2 23908307 23908307 single base substitution G A intron_variant PACA-CA 2 23908307 23908307 single base substitution G A upstream_gene_variant PACA-CA 2 23912567 23912567 single base substitution A T exon_variant PACA-CA 2 23912567 23912567 single base substitution A T intron_variant PACA-CA 2 23913524 23913524 single base substitution C T exon_variant PACA-CA 2 23913524 23913524 single base substitution C T intron_variant PACA-CA 2 23914078 23914078 single base substitution A T exon_variant PACA-CA 2 23914078 23914078 single base substitution A T intron_variant PACA-CA 2 23914559 23914559 single base substitution C T exon_variant PACA-CA 2 23914559 23914559 single base substitution C T synonymous_variant S204S 612C>T PACA-CA 2 23914559 23914559 single base substitution C T synonymous_variant S365S 1095C>T PACA-CA 2 23916249 23916249 single base substitution G A exon_variant PACA-CA 2 23916249 23916249 single base substitution G A missense_variant E304K 910G>A PACA-CA 2 23916249 23916249 single base substitution G A missense_variant E465K 1393G>A PACA-CA 2 23916650 23916650 single base substitution C T intron_variant PACA-CA 2 23918678 23918678 single base substitution G A exon_variant PACA-CA 2 23918678 23918678 single base substitution G A synonymous_variant P415P 1245G>A PACA-CA 2 23918678 23918678 single base substitution G A synonymous_variant P576P 1728G>A PACA-CA 2 23921814 23921814 single base substitution T A downstream_gene_variant PACA-CA 2 23921814 23921814 single base substitution T A intron_variant PACA-CA 2 23922394 23922394 single base substitution G C downstream_gene_variant PACA-CA 2 23922394 23922394 single base substitution G C intron_variant PACA-CA 2 23926613 23926613 single base substitution C T exon_variant PACA-CA 2 23926613 23926613 single base substitution C T missense_variant T775M 2324C>T PACA-CA 2 23928392 23928392 single base substitution G A intron_variant PACA-CA 2 23929824 23929824 single base substitution T C 3_prime_UTR_variant PACA-CA 2 23929824 23929824 single base substitution T C exon_variant PACA-CA 2 23930864 23930864 single base substitution T A 3_prime_UTR_variant PACA-CA 2 23930864 23930864 single base substitution T A exon_variant PACA-CA 2 23932121 23932121 single base substitution A T downstream_gene_variant PACA-CA 2 23932609 23932609 single base substitution T G downstream_gene_variant PAEN-AU 2 23685358 23685358 single base substitution G C intron_variant PAEN-AU 2 23701922 23701922 single base substitution C T intron_variant PAEN-AU 2 23709518 23709518 single base substitution G A intron_variant PAEN-AU 2 23740097 23740097 single base substitution G T intron_variant PAEN-AU 2 23835480 23835480 single base substitution T A intron_variant PAEN-AU 2 23843101 23843101 single base substitution C T intron_variant PAEN-AU 2 23846520 23846520 single base substitution C G intron_variant PAEN-AU 2 23847259 23847259 single base substitution A C intron_variant PAEN-AU 2 23903589 23903589 single base substitution G C intron_variant PAEN-AU 2 23927365 23927365 single base substitution A G intron_variant PAEN-IT 2 23631437 23631437 single base substitution C T intron_variant PAEN-IT 2 23670759 23670759 single base substitution T G intron_variant PAEN-IT 2 23678043 23678043 single base substitution C T intron_variant PAEN-IT 2 23737859 23737859 single base substitution A G intron_variant PAEN-IT 2 23771657 23771657 single base substitution G A intron_variant PAEN-IT 2 23790334 23790334 single base substitution G A intron_variant PAEN-IT 2 23920938 23920938 single base substitution G C downstream_gene_variant PAEN-IT 2 23920938 23920938 single base substitution G C intron_variant PBCA-DE 2 23607968 23607968 single base substitution A C upstream_gene_variant PBCA-DE 2 23608320 23608320 insertion of <=200bp - GCC 5_prime_UTR_variant PBCA-DE 2 23608880 23608880 single base substitution A G intron_variant PBCA-DE 2 23629098 23629098 single base substitution C T intron_variant PBCA-DE 2 23636421 23636421 single base substitution C A intron_variant PBCA-DE 2 23643461 23643461 single base substitution T C intron_variant PBCA-DE 2 23647173 23647173 single base substitution G A intron_variant PBCA-DE 2 23651156 23651156 single base substitution C T intron_variant PBCA-DE 2 23653319 23653319 single base substitution A G intron_variant PBCA-DE 2 23665986 23665986 single base substitution G A intron_variant PBCA-DE 2 23669103 23669103 single base substitution T C intron_variant PBCA-DE 2 23694178 23694178 single base substitution C A intron_variant PBCA-DE 2 23699687 23699687 single base substitution G A intron_variant PBCA-DE 2 23704523 23704523 single base substitution C T intron_variant PBCA-DE 2 23714308 23714308 single base substitution A G intron_variant PBCA-DE 2 23714400 23714400 single base substitution G A intron_variant PBCA-DE 2 23715994 23715994 single base substitution G A intron_variant PBCA-DE 2 23718675 23718675 insertion of <=200bp - ACTGTAGCACGCGCT intron_variant PBCA-DE 2 23730572 23730572 single base substitution C T intron_variant PBCA-DE 2 23736032 23736032 deletion of <=200bp G - intron_variant PBCA-DE 2 23742783 23742783 single base substitution T A intron_variant PBCA-DE 2 23761917 23761917 single base substitution G C intron_variant PBCA-DE 2 23768954 23768954 single base substitution G A intron_variant PBCA-DE 2 23771174 23771175 deletion of <=200bp CA - intron_variant PBCA-DE 2 23772212 23772212 insertion of <=200bp - C intron_variant PBCA-DE 2 23774180 23774180 deletion of <=200bp C - intron_variant PBCA-DE 2 23774581 23774581 single base substitution C T intron_variant PBCA-DE 2 23792385 23792385 single base substitution A G intron_variant PBCA-DE 2 23793882 23793882 single base substitution G A intron_variant PBCA-DE 2 23794992 23794992 single base substitution T C intron_variant PBCA-DE 2 23800154 23800154 single base substitution C T intron_variant PBCA-DE 2 23800789 23800789 single base substitution G A intron_variant PBCA-DE 2 23803990 23803990 single base substitution C A intron_variant PBCA-DE 2 23806256 23806256 single base substitution G A intron_variant PBCA-DE 2 23821128 23821128 insertion of <=200bp - A intron_variant PBCA-DE 2 23839705 23839705 single base substitution G A intron_variant PBCA-DE 2 23851973 23851973 single base substitution C T intron_variant PBCA-DE 2 23854807 23854807 single base substitution A T intron_variant PBCA-DE 2 23857727 23857730 deletion of <=200bp CATT - intron_variant PBCA-DE 2 23859620 23859620 single base substitution G A intron_variant PBCA-DE 2 23893876 23893876 single base substitution C A intron_variant PBCA-DE 2 23893879 23893879 single base substitution C A intron_variant PBCA-DE 2 23894916 23894916 single base substitution G A intron_variant PBCA-DE 2 23908887 23908887 single base substitution T C intron_variant PBCA-DE 2 23908887 23908887 single base substitution T C upstream_gene_variant PBCA-DE 2 23916037 23916037 single base substitution C A intron_variant PBCA-DE 2 23917203 23917203 deletion of <=200bp C - intron_variant PBCA-DE 2 23922398 23922398 single base substitution A T downstream_gene_variant PBCA-DE 2 23922398 23922398 single base substitution A T intron_variant PBCA-DE 2 23923727 23923727 single base substitution G T downstream_gene_variant PBCA-DE 2 23923727 23923727 single base substitution G T intron_variant PRAD-CA 2 23619960 23619960 single base substitution C T intron_variant PRAD-CA 2 23626601 23626601 single base substitution T A intron_variant PRAD-CA 2 23633971 23633971 single base substitution T C intron_variant PRAD-CA 2 23634086 23634086 single base substitution A C intron_variant PRAD-CA 2 23635591 23635591 single base substitution A G intron_variant PRAD-CA 2 23654371 23654371 single base substitution C A intron_variant PRAD-CA 2 23656548 23656548 single base substitution G T intron_variant PRAD-CA 2 23658185 23658185 single base substitution G A intron_variant PRAD-CA 2 23682282 23682282 single base substitution A C intron_variant PRAD-CA 2 23682817 23682817 single base substitution T G intron_variant PRAD-CA 2 23693543 23693543 single base substitution A T intron_variant PRAD-CA 2 23716381 23716381 single base substitution T C intron_variant PRAD-CA 2 23763197 23763197 single base substitution G A intron_variant PRAD-CA 2 23768041 23768041 single base substitution A C intron_variant PRAD-CA 2 23781018 23781018 single base substitution G A intron_variant PRAD-CA 2 23823224 23823224 single base substitution C T intron_variant PRAD-CA 2 23823924 23823924 single base substitution G A intron_variant PRAD-CA 2 23833663 23833663 single base substitution C T intron_variant PRAD-CA 2 23878451 23878451 single base substitution G A intron_variant PRAD-CA 2 23885265 23885265 single base substitution C T intron_variant PRAD-CA 2 23908834 23908834 single base substitution G A intron_variant PRAD-CA 2 23908834 23908834 single base substitution G A upstream_gene_variant PRAD-CA 2 23926262 23926262 single base substitution G A intron_variant PRAD-CA 2 23928003 23928003 single base substitution G C intron_variant PRAD-CA 2 23933108 23933108 single base substitution A C downstream_gene_variant PRAD-UK 2 23604992 23604992 single base substitution G A upstream_gene_variant PRAD-UK 2 23617010 23617010 single base substitution A G intron_variant PRAD-UK 2 23622288 23622288 single base substitution A T intron_variant PRAD-UK 2 23622761 23622761 single base substitution G A intron_variant PRAD-UK 2 23631728 23631728 single base substitution T G intron_variant PRAD-UK 2 23636387 23636387 single base substitution C T intron_variant PRAD-UK 2 23656669 23656669 single base substitution A C intron_variant PRAD-UK 2 23661719 23661719 insertion of <=200bp - C intron_variant PRAD-UK 2 23665608 23665608 single base substitution G A intron_variant PRAD-UK 2 23668806 23668806 single base substitution G C intron_variant PRAD-UK 2 23669176 23669176 single base substitution C T intron_variant PRAD-UK 2 23671747 23671747 single base substitution G A intron_variant PRAD-UK 2 23690160 23690160 single base substitution A G intron_variant PRAD-UK 2 23701213 23701213 single base substitution T A intron_variant PRAD-UK 2 23734435 23734435 single base substitution G T intron_variant PRAD-UK 2 23736159 23736159 single base substitution A G intron_variant PRAD-UK 2 23737671 23737671 single base substitution C G intron_variant PRAD-UK 2 23738444 23738444 single base substitution C G intron_variant PRAD-UK 2 23741110 23741110 single base substitution G A intron_variant PRAD-UK 2 23744758 23744758 single base substitution G A intron_variant PRAD-UK 2 23766083 23766083 single base substitution C T intron_variant PRAD-UK 2 23777133 23777133 single base substitution A G intron_variant PRAD-UK 2 23778881 23778881 single base substitution A G intron_variant PRAD-UK 2 23782525 23782525 single base substitution C T intron_variant PRAD-UK 2 23785015 23785015 single base substitution A G splice_region_variant PRAD-UK 2 23790596 23790596 single base substitution T G intron_variant PRAD-UK 2 23796691 23796691 single base substitution G T intron_variant PRAD-UK 2 23808211 23808211 single base substitution A G intron_variant PRAD-UK 2 23814496 23814496 single base substitution G A intron_variant PRAD-UK 2 23819956 23819957 deletion of <=200bp CA - intron_variant PRAD-UK 2 23841810 23841810 single base substitution C T intron_variant PRAD-UK 2 23850323 23850323 single base substitution C T intron_variant PRAD-UK 2 23852341 23852341 single base substitution T G intron_variant PRAD-UK 2 23860882 23860882 single base substitution C A intron_variant PRAD-UK 2 23860882 23860882 single base substitution C A upstream_gene_variant PRAD-UK 2 23865093 23865093 single base substitution C T intron_variant PRAD-UK 2 23865093 23865093 single base substitution C T upstream_gene_variant PRAD-UK 2 23865738 23865738 single base substitution G T exon_variant PRAD-UK 2 23865738 23865738 single base substitution G T intron_variant PRAD-UK 2 23867987 23867987 insertion of <=200bp - T downstream_gene_variant PRAD-UK 2 23867987 23867987 insertion of <=200bp - T intron_variant PRAD-UK 2 23878224 23878224 single base substitution G A intron_variant PRAD-UK 2 23879242 23879242 single base substitution G T intron_variant PRAD-UK 2 23882730 23882730 single base substitution A G intron_variant PRAD-UK 2 23902353 23902353 single base substitution G A intron_variant PRAD-UK 2 23918216 23918216 single base substitution G T intron_variant PRAD-UK 2 23924366 23924366 single base substitution T G downstream_gene_variant PRAD-UK 2 23924366 23924366 single base substitution T G intron_variant PRAD-UK 2 23930898 23930898 single base substitution T C 3_prime_UTR_variant PRAD-UK 2 23930898 23930898 single base substitution T C exon_variant READ-US 2 23916296 23916296 single base substitution C A exon_variant READ-US 2 23916296 23916296 single base substitution C A missense_variant F319L 957C>A READ-US 2 23916296 23916296 single base substitution C A missense_variant F480L 1440C>A RECA-EU 2 23606584 23606584 single base substitution C T upstream_gene_variant RECA-EU 2 23609867 23609867 single base substitution G T intron_variant RECA-EU 2 23612660 23612660 single base substitution G A intron_variant RECA-EU 2 23613853 23613853 single base substitution G A intron_variant RECA-EU 2 23615606 23615606 single base substitution G A intron_variant RECA-EU 2 23634596 23634596 single base substitution G T intron_variant RECA-EU 2 23635265 23635265 single base substitution A G intron_variant RECA-EU 2 23638818 23638818 single base substitution A C intron_variant RECA-EU 2 23639792 23639792 single base substitution C G intron_variant RECA-EU 2 23666136 23666136 single base substitution T A intron_variant RECA-EU 2 23672308 23672308 single base substitution C A intron_variant RECA-EU 2 23693072 23693072 single base substitution C G intron_variant RECA-EU 2 23708823 23708823 single base substitution T A intron_variant RECA-EU 2 23717286 23717286 single base substitution G C intron_variant RECA-EU 2 23754631 23754631 single base substitution A T intron_variant RECA-EU 2 23754631 23754631 single base substitution A T upstream_gene_variant RECA-EU 2 23754942 23754942 single base substitution T A intron_variant RECA-EU 2 23754942 23754942 single base substitution T A upstream_gene_variant RECA-EU 2 23766904 23766904 single base substitution A C intron_variant RECA-EU 2 23773282 23773282 single base substitution T C intron_variant RECA-EU 2 23783689 23783689 single base substitution A T intron_variant RECA-EU 2 23783690 23783690 single base substitution C T intron_variant RECA-EU 2 23790885 23790885 single base substitution C A intron_variant RECA-EU 2 23791769 23791769 single base substitution G T intron_variant RECA-EU 2 23791916 23791916 single base substitution A T intron_variant RECA-EU 2 23805813 23805813 single base substitution G T intron_variant RECA-EU 2 23807593 23807593 single base substitution A G intron_variant RECA-EU 2 23809110 23809110 single base substitution C T intron_variant RECA-EU 2 23814825 23814825 single base substitution G A intron_variant RECA-EU 2 23817947 23817947 single base substitution G C intron_variant RECA-EU 2 23818670 23818670 single base substitution A T intron_variant RECA-EU 2 23818964 23818964 single base substitution C T intron_variant RECA-EU 2 23823258 23823258 single base substitution C A intron_variant RECA-EU 2 23834495 23834495 single base substitution T G intron_variant RECA-EU 2 23837244 23837244 single base substitution A T intron_variant RECA-EU 2 23839044 23839044 single base substitution A T intron_variant RECA-EU 2 23841462 23841462 single base substitution G A intron_variant RECA-EU 2 23842092 23842092 single base substitution G T intron_variant RECA-EU 2 23856018 23856018 single base substitution C G intron_variant RECA-EU 2 23856047 23856047 single base substitution G A intron_variant RECA-EU 2 23864516 23864516 single base substitution A C intron_variant RECA-EU 2 23864516 23864516 single base substitution A C upstream_gene_variant RECA-EU 2 23871452 23871452 single base substitution T G downstream_gene_variant RECA-EU 2 23871452 23871452 single base substitution T G intron_variant RECA-EU 2 23872224 23872224 single base substitution C G intron_variant RECA-EU 2 23876447 23876447 single base substitution G A intron_variant RECA-EU 2 23881887 23881887 single base substitution G A intron_variant RECA-EU 2 23891172 23891172 single base substitution A T intron_variant RECA-EU 2 23899368 23899368 single base substitution G T intron_variant RECA-EU 2 23904828 23904828 single base substitution T C intron_variant RECA-EU 2 23935786 23935786 single base substitution A G downstream_gene_variant SKCA-BR 2 23611851 23611851 insertion of <=200bp - TTTCTTC intron_variant SKCA-BR 2 23611880 23611881 deletion of <=200bp TA - intron_variant SKCA-BR 2 23612142 23612142 single base substitution C A intron_variant SKCA-BR 2 23612143 23612143 single base substitution A T intron_variant SKCA-BR 2 23612144 23612144 single base substitution C T intron_variant SKCA-BR 2 23613633 23613633 single base substitution C T intron_variant SKCA-BR 2 23620663 23620663 single base substitution G A intron_variant SKCA-BR 2 23620761 23620761 single base substitution G A intron_variant SKCA-BR 2 23621411 23621411 single base substitution T C intron_variant SKCA-BR 2 23626582 23626582 insertion of <=200bp - AAG intron_variant SKCA-BR 2 23626597 23626597 insertion of <=200bp - AGAGT intron_variant SKCA-BR 2 23628740 23628740 single base substitution G A intron_variant SKCA-BR 2 23628812 23628812 single base substitution T G intron_variant SKCA-BR 2 23629214 23629215 deletion of <=200bp AG - intron_variant SKCA-BR 2 23629933 23629933 single base substitution C T intron_variant SKCA-BR 2 23633270 23633270 single base substitution G A intron_variant SKCA-BR 2 23634961 23634961 single base substitution G A intron_variant SKCA-BR 2 23636095 23636095 single base substitution C T intron_variant SKCA-BR 2 23636461 23636461 single base substitution C T intron_variant SKCA-BR 2 23636900 23636900 single base substitution G C intron_variant SKCA-BR 2 23640760 23640760 single base substitution C T intron_variant SKCA-BR 2 23641420 23641420 single base substitution A T intron_variant SKCA-BR 2 23644675 23644675 single base substitution C T intron_variant SKCA-BR 2 23645404 23645404 single base substitution T C intron_variant SKCA-BR 2 23645987 23645987 single base substitution T G intron_variant SKCA-BR 2 23646107 23646107 single base substitution T G intron_variant SKCA-BR 2 23646251 23646251 single base substitution C T intron_variant SKCA-BR 2 23646741 23646741 single base substitution T C intron_variant SKCA-BR 2 23647749 23647749 single base substitution G T intron_variant SKCA-BR 2 23648385 23648385 single base substitution C T intron_variant SKCA-BR 2 23649031 23649031 single base substitution G A intron_variant SKCA-BR 2 23649130 23649130 single base substitution A T intron_variant SKCA-BR 2 23649332 23649332 single base substitution C T intron_variant SKCA-BR 2 23650869 23650869 single base substitution C T intron_variant SKCA-BR 2 23652152 23652152 single base substitution G A intron_variant SKCA-BR 2 23653691 23653691 single base substitution T C intron_variant SKCA-BR 2 23654020 23654020 single base substitution C T intron_variant SKCA-BR 2 23655312 23655312 single base substitution C T intron_variant SKCA-BR 2 23658022 23658022 single base substitution G A intron_variant SKCA-BR 2 23658023 23658023 single base substitution G A intron_variant SKCA-BR 2 23658750 23658750 single base substitution C T intron_variant SKCA-BR 2 23659020 23659022 deletion of <=200bp CTG - intron_variant SKCA-BR 2 23659151 23659159 deletion of <=200bp TTGTGTGTG - intron_variant SKCA-BR 2 23659159 23659159 single base substitution G T intron_variant SKCA-BR 2 23659443 23659443 single base substitution C T intron_variant SKCA-BR 2 23660721 23660721 single base substitution C G intron_variant SKCA-BR 2 23660984 23660984 single base substitution A T intron_variant SKCA-BR 2 23661297 23661297 single base substitution G A intron_variant SKCA-BR 2 23661307 23661307 single base substitution C T intron_variant SKCA-BR 2 23661576 23661576 single base substitution T C intron_variant SKCA-BR 2 23662078 23662078 single base substitution C T intron_variant SKCA-BR 2 23663874 23663874 single base substitution C T intron_variant SKCA-BR 2 23664914 23664914 single base substitution G A intron_variant SKCA-BR 2 23666700 23666700 single base substitution C T intron_variant SKCA-BR 2 23666706 23666706 single base substitution G C intron_variant SKCA-BR 2 23666946 23666946 single base substitution G T intron_variant SKCA-BR 2 23668405 23668405 single base substitution T C intron_variant SKCA-BR 2 23670522 23670522 single base substitution G A intron_variant SKCA-BR 2 23675783 23675783 insertion of <=200bp - CA intron_variant SKCA-BR 2 23675979 23675979 insertion of <=200bp - TA intron_variant SKCA-BR 2 23677615 23677615 single base substitution G T intron_variant SKCA-BR 2 23677664 23677664 insertion of <=200bp - AT intron_variant SKCA-BR 2 23680275 23680275 single base substitution C T intron_variant SKCA-BR 2 23684787 23684787 single base substitution A G intron_variant SKCA-BR 2 23686092 23686092 single base substitution C T intron_variant SKCA-BR 2 23686799 23686799 single base substitution G T intron_variant SKCA-BR 2 23689594 23689594 single base substitution A T intron_variant SKCA-BR 2 23689929 23689929 single base substitution C G intron_variant SKCA-BR 2 23694939 23694939 single base substitution A G intron_variant SKCA-BR 2 23695347 23695347 single base substitution T A intron_variant SKCA-BR 2 23695369 23695369 single base substitution C T intron_variant SKCA-BR 2 23696688 23696688 single base substitution A C intron_variant SKCA-BR 2 23696711 23696711 single base substitution A C intron_variant SKCA-BR 2 23697069 23697069 single base substitution C T intron_variant SKCA-BR 2 23697709 23697709 single base substitution A G intron_variant SKCA-BR 2 23697900 23697900 single base substitution C T intron_variant SKCA-BR 2 23698150 23698150 single base substitution G A intron_variant SKCA-BR 2 23699397 23699397 single base substitution C T intron_variant SKCA-BR 2 23703071 23703071 single base substitution G A intron_variant SKCA-BR 2 23705638 23705638 single base substitution G A intron_variant SKCA-BR 2 23705696 23705700 deletion of <=200bp CTCAT - intron_variant SKCA-BR 2 23706064 23706064 single base substitution G A intron_variant SKCA-BR 2 23707489 23707489 single base substitution A C intron_variant SKCA-BR 2 23708205 23708205 single base substitution A G intron_variant SKCA-BR 2 23709497 23709497 single base substitution C T intron_variant SKCA-BR 2 23711241 23711241 single base substitution C T intron_variant SKCA-BR 2 23712847 23712847 single base substitution T C intron_variant SKCA-BR 2 23714723 23714723 single base substitution C T intron_variant SKCA-BR 2 23716470 23716470 single base substitution C T intron_variant SKCA-BR 2 23718601 23718601 single base substitution A C intron_variant SKCA-BR 2 23718665 23718665 single base substitution T C intron_variant SKCA-BR 2 23719357 23719357 single base substitution T C intron_variant SKCA-BR 2 23719391 23719391 single base substitution T C intron_variant SKCA-BR 2 23721726 23721726 single base substitution C T intron_variant SKCA-BR 2 23722688 23722688 single base substitution G A intron_variant SKCA-BR 2 23724477 23724477 single base substitution C T intron_variant SKCA-BR 2 23733235 23733235 insertion of <=200bp - AGGAC intron_variant SKCA-BR 2 23735143 23735143 single base substitution C T intron_variant SKCA-BR 2 23735714 23735714 single base substitution C T intron_variant SKCA-BR 2 23745021 23745021 insertion of <=200bp - CT intron_variant SKCA-BR 2 23749156 23749157 deletion of <=200bp CA - intron_variant SKCA-BR 2 23749157 23749157 single base substitution A G intron_variant SKCA-BR 2 23749161 23749162 deletion of <=200bp GA - intron_variant SKCA-BR 2 23749162 23749162 single base substitution A G intron_variant SKCA-BR 2 23750832 23750832 single base substitution A C intron_variant SKCA-BR 2 23750832 23750832 single base substitution A C upstream_gene_variant SKCA-BR 2 23752532 23752532 single base substitution G A intron_variant SKCA-BR 2 23752532 23752532 single base substitution G A upstream_gene_variant SKCA-BR 2 23752668 23752668 single base substitution C T intron_variant SKCA-BR 2 23752668 23752668 single base substitution C T upstream_gene_variant SKCA-BR 2 23760154 23760154 single base substitution T G intron_variant SKCA-BR 2 23762301 23762303 deletion of <=200bp CCT - intron_variant SKCA-BR 2 23762301 23762304 deletion of <=200bp CCTT - intron_variant SKCA-BR 2 23762302 23762302 single base substitution C T intron_variant SKCA-BR 2 23764635 23764635 insertion of <=200bp - CAAA intron_variant SKCA-BR 2 23766657 23766657 single base substitution G A intron_variant SKCA-BR 2 23767299 23767299 single base substitution C T intron_variant SKCA-BR 2 23768709 23768709 single base substitution T C intron_variant SKCA-BR 2 23777285 23777285 single base substitution C T intron_variant SKCA-BR 2 23777574 23777574 single base substitution C T intron_variant SKCA-BR 2 23778002 23778002 single base substitution T C intron_variant SKCA-BR 2 23778595 23778595 single base substitution C T intron_variant SKCA-BR 2 23782688 23782688 single base substitution G T intron_variant SKCA-BR 2 23783611 23783611 single base substitution T C intron_variant SKCA-BR 2 23783847 23783847 single base substitution C T intron_variant SKCA-BR 2 23783855 23783855 single base substitution A G intron_variant SKCA-BR 2 23784499 23784499 single base substitution C T intron_variant SKCA-BR 2 23784703 23784703 single base substitution C T intron_variant SKCA-BR 2 23787758 23787758 single base substitution A G intron_variant SKCA-BR 2 23789342 23789342 single base substitution C T intron_variant SKCA-BR 2 23793431 23793431 single base substitution C T intron_variant SKCA-BR 2 23794712 23794712 single base substitution A T intron_variant SKCA-BR 2 23795128 23795128 single base substitution A C intron_variant SKCA-BR 2 23795570 23795570 single base substitution C T intron_variant SKCA-BR 2 23800374 23800374 single base substitution C T intron_variant SKCA-BR 2 23801620 23801620 single base substitution C T intron_variant SKCA-BR 2 23804698 23804698 insertion of <=200bp - CAAAAAA intron_variant SKCA-BR 2 23805433 23805433 single base substitution T G intron_variant SKCA-BR 2 23808096 23808096 single base substitution T G intron_variant SKCA-BR 2 23809232 23809233 deletion of <=200bp CT - intron_variant SKCA-BR 2 23809461 23809461 single base substitution C T intron_variant SKCA-BR 2 23809462 23809462 single base substitution C T intron_variant SKCA-BR 2 23811782 23811782 single base substitution A C intron_variant SKCA-BR 2 23814195 23814195 single base substitution G T intron_variant SKCA-BR 2 23816873 23816873 single base substitution C T intron_variant SKCA-BR 2 23818780 23818780 single base substitution C T intron_variant SKCA-BR 2 23819454 23819454 single base substitution G A intron_variant SKCA-BR 2 23819725 23819725 single base substitution C T intron_variant SKCA-BR 2 23820863 23820863 single base substitution G A intron_variant SKCA-BR 2 23822970 23822970 single base substitution C T intron_variant SKCA-BR 2 23823137 23823137 single base substitution C T intron_variant SKCA-BR 2 23827137 23827137 insertion of <=200bp - CTGATTTTT intron_variant SKCA-BR 2 23828012 23828012 single base substitution C T intron_variant SKCA-BR 2 23828377 23828377 single base substitution G A intron_variant SKCA-BR 2 23828998 23828998 single base substitution T A intron_variant SKCA-BR 2 23829008 23829008 single base substitution T G intron_variant SKCA-BR 2 23834182 23834182 single base substitution C T intron_variant SKCA-BR 2 23837049 23837049 single base substitution C T intron_variant SKCA-BR 2 23838079 23838079 single base substitution G A intron_variant SKCA-BR 2 23843494 23843494 single base substitution G A intron_variant SKCA-BR 2 23843540 23843540 single base substitution G A intron_variant SKCA-BR 2 23843741 23843741 single base substitution C T intron_variant SKCA-BR 2 23845196 23845196 single base substitution C T intron_variant SKCA-BR 2 23845754 23845754 single base substitution G A intron_variant SKCA-BR 2 23846217 23846217 single base substitution A G intron_variant SKCA-BR 2 23846825 23846825 single base substitution C T intron_variant SKCA-BR 2 23850036 23850036 single base substitution G C intron_variant SKCA-BR 2 23850873 23850873 single base substitution G A intron_variant SKCA-BR 2 23855849 23855849 single base substitution C G intron_variant SKCA-BR 2 23857945 23857945 single base substitution C T intron_variant SKCA-BR 2 23859269 23859269 insertion of <=200bp - GA intron_variant SKCA-BR 2 23861546 23861546 single base substitution C T intron_variant SKCA-BR 2 23861546 23861546 single base substitution C T upstream_gene_variant SKCA-BR 2 23862595 23862595 single base substitution T C intron_variant SKCA-BR 2 23862595 23862595 single base substitution T C upstream_gene_variant SKCA-BR 2 23864996 23864996 single base substitution C T intron_variant SKCA-BR 2 23864996 23864996 single base substitution C T upstream_gene_variant SKCA-BR 2 23865364 23865364 single base substitution C T exon_variant SKCA-BR 2 23865364 23865364 single base substitution C T missense_variant P195L 584C>T SKCA-BR 2 23865364 23865364 single base substitution C T missense_variant P34L 101C>T SKCA-BR 2 23866160 23866160 single base substitution C A exon_variant SKCA-BR 2 23866160 23866160 single base substitution C A intron_variant SKCA-BR 2 23866842 23866842 single base substitution A C exon_variant SKCA-BR 2 23866842 23866842 single base substitution A C intron_variant SKCA-BR 2 23866842 23866843 deletion of <=200bp AC - exon_variant SKCA-BR 2 23866842 23866843 deletion of <=200bp AC - intron_variant SKCA-BR 2 23866848 23866848 single base substitution C T exon_variant SKCA-BR 2 23866848 23866848 single base substitution C T intron_variant SKCA-BR 2 23867816 23867816 single base substitution C T downstream_gene_variant SKCA-BR 2 23867816 23867816 single base substitution C T intron_variant SKCA-BR 2 23868171 23868171 single base substitution G C downstream_gene_variant SKCA-BR 2 23868171 23868171 single base substitution G C intron_variant SKCA-BR 2 23872751 23872751 single base substitution T G intron_variant SKCA-BR 2 23879268 23879268 single base substitution A C intron_variant SKCA-BR 2 23879720 23879720 single base substitution A G intron_variant SKCA-BR 2 23879802 23879803 deletion of <=200bp GA - intron_variant SKCA-BR 2 23880814 23880814 single base substitution C T intron_variant SKCA-BR 2 23881486 23881486 single base substitution G T intron_variant SKCA-BR 2 23882272 23882272 single base substitution C T intron_variant SKCA-BR 2 23884210 23884210 insertion of <=200bp - TAAA intron_variant SKCA-BR 2 23888868 23888868 single base substitution G A intron_variant SKCA-BR 2 23890629 23890629 single base substitution G A intron_variant SKCA-BR 2 23890735 23890735 single base substitution A C intron_variant SKCA-BR 2 23890743 23890743 single base substitution C T intron_variant SKCA-BR 2 23891069 23891069 single base substitution C T intron_variant SKCA-BR 2 23891563 23891563 single base substitution G A intron_variant SKCA-BR 2 23892384 23892384 single base substitution G A intron_variant SKCA-BR 2 23893787 23893787 insertion of <=200bp - GCGCGCA intron_variant SKCA-BR 2 23893787 23893787 insertion of <=200bp - GCGCGCGCACT intron_variant SKCA-BR 2 23893789 23893789 single base substitution T G intron_variant SKCA-BR 2 23894869 23894869 single base substitution C T intron_variant SKCA-BR 2 23896098 23896142 deletion of <=200bp AGACACACACCCACACCACGTGCTCACATGCACTATACACAAGAG - intron_variant SKCA-BR 2 23896106 23896106 single base substitution A T intron_variant SKCA-BR 2 23896132 23896132 single base substitution A G intron_variant SKCA-BR 2 23899623 23899623 single base substitution T G intron_variant SKCA-BR 2 23902193 23902193 single base substitution T G intron_variant SKCA-BR 2 23903534 23903534 single base substitution T C intron_variant SKCA-BR 2 23904920 23904920 single base substitution C T intron_variant SKCA-BR 2 23913010 23913010 single base substitution G A exon_variant SKCA-BR 2 23913010 23913010 single base substitution G A intron_variant SKCA-BR 2 23913387 23913387 single base substitution C T exon_variant SKCA-BR 2 23913387 23913387 single base substitution C T intron_variant SKCA-BR 2 23914659 23914659 single base substitution A T exon_variant SKCA-BR 2 23914659 23914659 single base substitution A T missense_variant I238F 712A>T SKCA-BR 2 23914659 23914659 single base substitution A T missense_variant I399F 1195A>T SKCA-BR 2 23915632 23915632 single base substitution C T intron_variant SKCA-BR 2 23915871 23915871 single base substitution C T intron_variant SKCA-BR 2 23916584 23916584 single base substitution C T intron_variant SKCA-BR 2 23918433 23918433 single base substitution C T intron_variant SKCA-BR 2 23919064 23919064 single base substitution A C intron_variant SKCA-BR 2 23921837 23921837 single base substitution A C downstream_gene_variant SKCA-BR 2 23921837 23921837 single base substitution A C intron_variant SKCA-BR 2 23924657 23924663 deletion of <=200bp TTTTTGC - downstream_gene_variant SKCA-BR 2 23924657 23924663 deletion of <=200bp TTTTTGC - intron_variant SKCA-BR 2 23924670 23924670 single base substitution T C downstream_gene_variant SKCA-BR 2 23924670 23924670 single base substitution T C intron_variant SKCA-BR 2 23925914 23925914 insertion of <=200bp - GC intron_variant SKCA-BR 2 23925960 23925960 single base substitution G A intron_variant SKCA-BR 2 23929210 23929210 single base substitution G A intron_variant SKCA-BR 2 23932002 23932002 single base substitution C T downstream_gene_variant SKCA-BR 2 23932279 23932279 single base substitution T G downstream_gene_variant SKCA-BR 2 23933412 23933415 deletion of <=200bp GTAT - downstream_gene_variant SKCA-BR 2 23933418 23933418 single base substitution A C downstream_gene_variant SKCA-BR 2 23934215 23934215 insertion of <=200bp - TC downstream_gene_variant SKCA-BR 2 23934216 23934216 single base substitution T C downstream_gene_variant THCA-SA 2 23919338 23919338 deletion of <=200bp C - exon_variant THCA-SA 2 23919338 23919338 deletion of <=200bp C - frameshift_variant T526 THCA-SA 2 23919338 23919338 deletion of <=200bp C - frameshift_variant T687 THCA-SA 2 23926233 23926233 single base substitution C T exon_variant THCA-SA 2 23926233 23926233 single base substitution C T synonymous_variant I761I 2283C>T THCA-SA 2 23929528 23929528 single base substitution C T exon_variant THCA-SA 2 23929528 23929528 single base substitution C T synonymous_variant S874S 2622C>T UCEC-US 2 23785090 23785090 single base substitution C T exon_variant UCEC-US 2 23785090 23785090 single base substitution C T synonymous_variant F8F 24C>T UCEC-US 2 23785144 23785144 single base substitution G A exon_variant UCEC-US 2 23785144 23785144 single base substitution G A synonymous_variant T26T 78G>A UCEC-US 2 23865262 23865262 single base substitution C T 5_prime_UTR_variant UCEC-US 2 23865262 23865262 single base substitution C T exon_variant UCEC-US 2 23865262 23865262 single base substitution C T missense_variant A161V 482C>T UCEC-US 2 23865406 23865406 single base substitution C T exon_variant UCEC-US 2 23865406 23865406 single base substitution C T missense_variant P209L 626C>T UCEC-US 2 23865406 23865406 single base substitution C T missense_variant P48L 143C>T UCEC-US 2 23865407 23865407 single base substitution G A exon_variant UCEC-US 2 23865407 23865407 single base substitution G A synonymous_variant P209P 627G>A UCEC-US 2 23865407 23865407 single base substitution G A synonymous_variant P48P 144G>A UCEC-US 2 23916305 23916305 single base substitution C T exon_variant UCEC-US 2 23916305 23916305 single base substitution C T synonymous_variant Y322Y 966C>T UCEC-US 2 23916305 23916305 single base substitution C T synonymous_variant Y483Y 1449C>T UCEC-US 2 23916358 23916358 single base substitution T A exon_variant UCEC-US 2 23916358 23916358 single base substitution T A missense_variant V340D 1019T>A UCEC-US 2 23916358 23916358 single base substitution T A missense_variant V501D 1502T>A UCEC-US 2 23918622 23918622 single base substitution C T exon_variant UCEC-US 2 23918622 23918622 single base substitution C T missense_variant R397C 1189C>T UCEC-US 2 23918622 23918622 single base substitution C T missense_variant R558C 1672C>T UCEC-US 2 23929496 23929496 single base substitution G A exon_variant UCEC-US 2 23929496 23929496 single base substitution G A missense_variant G864S 2590G>A UCEC-US 2 23929528 23929528 single base substitution C T exon_variant UCEC-US 2 23929528 23929528 single base substitution C T synonymous_variant S874S 2622C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CRC-02T COSM5455028 c.1948T>C p.Y650H Substitution - Missense 2:23706647-23706647 + AML40 COSM158748 c.1503T>G p.S501S Substitution - coding silent 2:23703246-23703246 + SC_9060 COSM5555079 c.75G>C p.G25G Substitution - coding silent 2:23562271-23562271 + TCGA-CA-6717-01 COSM1406554 c.780C>A p.F260L Substitution - Missense 2:23693426-23693426 + sysucc-810T COSM442592 c.1437C>T p.H479H Substitution - coding silent 2:23696505-23696505 + TCGA-13-0714-01 COSM82219 c.423C>T p.S141S Substitution - coding silent 2:23691677-23691677 + TCGA-D1-A165-01 COSM1153764 c.626C>T p.P209L Substitution - Missense 2:23642536-23642536 + T8 COSM5344119 c.145G>A p.V49I Substitution - Missense 2:23562341-23562341 + TCGA-CM-5348-01 COSM1406555 c.1571G>A p.R524H Substitution - Missense 2:23695651-23695651 + TCGA-BS-A0UV-01 COSM1591972 c.627G>A p.P209P Substitution - coding silent 2:23642537-23642537 + ESCC_159 COSM5480444 c.1295C>T p.T432M Substitution - Missense 2:23693281-23693281 + PCSI_0083_Pa_X COSM5420361 c.1661C>T p.T554M Substitution - Missense 2:23703743-23703743 + TCGA-EW-A423-01 COSM3839019 c.875G>A p.R292H Substitution - Missense 2:23693521-23693521 + ACINAR02 COSM1734009 c.1084G>A p.V362M Substitution - Missense 2:23691678-23691678 + LIM1215 COSM4337218 c.111delG p.A39fs*98 Deletion - Frameshift 2:23562307-23562307 + PD11399a COSM5802404 c.2405_2414del10 p.A803fs*2 Deletion - Frameshift 2:23703824-23703833 + 2521262 COSM5891673 c.62G>A p.W21* Substitution - Nonsense 2:23562258-23562258 + ACINAR02 COSM1734010 c.424G>A p.V142M Substitution - Missense 2:23691678-23691678 + PD4844a COSM5771506 c.1446-7C>G p.? Unknown 2:23703179-23703179 + ESCC_159 COSM5480445 c.635C>T p.T212M Substitution - Missense 2:23693281-23693281 + CSCC-41-T COSM4471517 c.1722C>T p.T574T Substitution - coding silent 2:23695802-23695802 + 8035591 COSM3391613 c.1166A>G p.N389S Substitution - Missense 2:23696035-23696035 + 587234 COSM1212632 c.434G>T p.G145V Substitution - Missense 2:23642344-23642344 + ACINAR27 COSM1733998 c.311G>A p.S104N Substitution - Missense 2:23639164-23639164 + RMS66_ COSM4988016 c.499G>A p.A167T Substitution - Missense 2:23642409-23642409 + sysucc-1925T COSM5450891 c.717C>T p.P239P Substitution - coding silent 2:23642627-23642627 + ESCC_11 COSM5624424 c.1057C>G p.R353G Substitution - Missense 2:23695797-23695797 + TCGA-A6-6653-01 COSM1406551 c.568C>T p.P190S Substitution - Missense 2:23642478-23642478 + HCT116 COSM2909021 c.1479+2C>G p.? Unknown 2:23703221-23703221 + PCSI_0284_Pa_P_526 COSM4964467 c.67G>C p.V23L Substitution - Missense 2:23562263-23562263 + UM-SCC-2 COSM3051693 c.196A>G p.T66A Substitution - Missense 2:23642766-23642766 + 61 COSM5735959 c.1747G>A p.A583T Substitution - Missense 2:23695956-23695956 + tumor_4178345 COSM5948285 c.43G>A p.V15M Substitution - Missense 2:23642613-23642613 + NCI-H209 COSM41531 c.1622A>C p.E541A Substitution - Missense 2:23703365-23703365 + ZZUFHECRKL-G071T COSM5438971 c.280G>T p.E94* Substitution - Nonsense 2:23642850-23642850 + SC_9104 COSM5566418 c.1037G>A p.R346H Substitution - Missense 2:23695777-23695777 + Gp5D COSM2908988 c.1336G>A p.V446I Substitution - Missense 2:23696404-23696404 + TCGA-13-0793-01 COSM111998 c.1483_1484insT p.P496fs*51 Insertion - Frameshift 2:23703226-23703227 + H_KA-804168-0814948 COSM158748 c.1503T>G p.S501S Substitution - coding silent 2:23703246-23703246 + SA227 COSM212640 c.545C>A p.A182D Substitution - Missense 2:23691799-23691799 + PCSI_0628_Pa_P_526 COSM5946250 c.435C>T p.S145S Substitution - coding silent 2:23691689-23691689 + CSCC-44-T COSM4507448 c.746C>T p.P249L Substitution - Missense 2:23642656-23642656 + DLD1 COSM3052093 c.1009G>A p.G337S Substitution - Missense 2:23684467-23684467 + 408 COSM4430496 c.138G>A p.P46P Substitution - coding silent 2:23642708-23642708 + 54 COSM5734890 c.2315C>G p.P772R Substitution - Missense 2:23703734-23703734 + PTC-10C COSM4133593 c.2283C>T p.I761I Substitution - coding silent 2:23703363-23703363 + MO_1013 COSM5557159 c.337A>G p.I113V Substitution - Missense 2:23684455-23684455 + PD11399a COSM5802405 c.1742_1751del10 p.A582fs*2 Deletion - Frameshift 2:23703824-23703833 + Gp5D COSM2908917 c.1320G>T p.L440L Substitution - coding silent 2:23693306-23693306 + MAVER-1 COSM1738756 c.874G>A p.G292R Substitution - Missense 2:23642784-23642784 + TCGA-EK-A3GM-01 COSM4823267 c.165G>A p.P55P Substitution - coding silent 2:23562361-23562361 + 199-06-01TD COSM5418062 c.1358G>A p.R453H Substitution - Missense 2:23696426-23696426 + C008 COSM5522975 c.454G>A p.A152T Substitution - Missense 2:23642364-23642364 + TCGA-BG-A0VW-01 COSM1591973 c.482C>T p.A161V Substitution - Missense 2:23642392-23642392 + SNU-175 COSM2908990 c.1399A>G p.T467A Substitution - Missense 2:23696467-23696467 + Gp5D COSM2908918 c.660G>T p.L220L Substitution - coding silent 2:23693306-23693306 + LP6005500-DNA_B03 COSM1592005 c.2622C>T p.S874S Substitution - coding silent 2:23706658-23706658 + BD10T COSM5514488 c.569C>T p.A190V Substitution - Missense 2:23691823-23691823 + TCGA-CC-A7IH-01 COSM4923977 c.995T>A p.L332Q Substitution - Missense 2:23695735-23695735 + HCA7 COSM4630736 c.19C>T p.R7C Substitution - Missense 2:23562215-23562215 + PTC_285 COSM5958806 c.1400delC p.L468fs*50 Deletion - Frameshift 2:23696468-23696468 + UM-SCC-2 COSM3051692 c.856A>G p.T286A Substitution - Missense 2:23642766-23642766 + SC_9043 COSM5547024 c.1275_1282+4delCTTTCTCGGTGA p.? Unknown 2:23691869-23691880 + S02295 COSM5689200 c.2452G>C p.V818L Substitution - Missense 2:23706488-23706488 + MO_1114 COSM5565158 c.737G>A p.R246H Substitution - Missense 2:23642647-23642647 + PCSI_0090_Pa_X COSM3380101 c.733G>A p.E245K Substitution - Missense 2:23693379-23693379 + WSU-HN8 COSM4602743 c.1649G>A p.R550Q Substitution - Missense 2:23695729-23695729 + HCT15 COSM3052093 c.1009G>A p.G337S Substitution - Missense 2:23684467-23684467 + HCT116 COSM2909020 c.2141C>G p.A714G Substitution - Missense 2:23703221-23703221 + HCT15 COSM3052094 c.349G>A p.G117S Substitution - Missense 2:23684467-23684467 + TCGA-13-0900-01 COSM111998 c.1483_1484insT p.P496fs*51 Insertion - Frameshift 2:23703226-23703227 + ESCC_47 COSM5630758 c.1719C>G p.Y573* Substitution - Nonsense 2:23703801-23703801 + TCGA-AB-2976-03 COSM158748 c.1503T>G p.S501S Substitution - coding silent 2:23703246-23703246 + SNU-175 COSM2908921 c.1330G>A p.E444K Substitution - Missense 2:23693316-23693316 + TCGA-EW-A423-01 COSM3839018 c.1535G>A p.R512H Substitution - Missense 2:23693521-23693521 + TCGA-DD-A3A9-01 COSM4920358 c.1169C>T p.P390L Substitution - Missense 2:23696038-23696038 + TCGA-AC-A23H-01 COSM3839002 c.379G>T p.D127Y Substitution - Missense 2:23639232-23639232 + TCGA-CK-5916-01 COSM1406558 c.912C>T p.R304R Substitution - coding silent 2:23695652-23695652 + DN11006 COSM5781754 c.436C>A p.P146T Substitution - Missense 2:23642346-23642346 + 54 COSM5734891 c.1652C>G p.P551R Substitution - Missense 2:23703734-23703734 + SC_9081 COSM5569569 c.750C>T p.T250T Substitution - coding silent 2:23642660-23642660 + TCGA-B5-A11N-01 COSM1591987 c.24C>T p.F8F Substitution - coding silent 2:23562220-23562220 + PCSI_0090_Pa_P COSM3380101 c.733G>A p.E245K Substitution - Missense 2:23693379-23693379 + 11T COSM3714163 c.2507C>A p.A836E Substitution - Missense 2:23706543-23706543 + TCGA-DD-A3A9-01 COSM4920357 c.1829C>T p.P610L Substitution - Missense 2:23696038-23696038 + PCSI_0590_Pa_P_526 COSM4751258 c.67G>A p.V23I Substitution - Missense 2:23562263-23562263 + SC_9011 COSM5569134 c.354G>A p.T118T Substitution - coding silent 2:23639207-23639207 + CRC-02T COSM3051682 c.449C>T p.T150M Substitution - Missense 2:23642359-23642359 + ESCC_134 COSM3051697 c.229C>T p.R77W Substitution - Missense 2:23642799-23642799 + TCGA-CA-6717-01 COSM1406553 c.1440C>A p.F480L Substitution - Missense 2:23693426-23693426 + NOKSI COSM4595485 c.2595C>G p.C865W Substitution - Missense 2:23706631-23706631 + ACINAR15 COSM1734008 c.149C>T p.P50L Substitution - Missense 2:23642719-23642719 + MAVER-1 COSM1738757 c.214G>A p.G72R Substitution - Missense 2:23642784-23642784 + ACINAR15 COSM1734007 c.809C>T p.P270L Substitution - Missense 2:23642719-23642719 + TCGA-CK-5916-01 COSM1406557 c.1572C>T p.R524R Substitution - coding silent 2:23695652-23695652 + TCGA-BS-A0TE-01 COSM1018547 c.842T>A p.V281D Substitution - Missense 2:23693488-23693488 + HCT116 COSM4632309 c.569C>A p.P190H Substitution - Missense 2:23642479-23642479 + LS411 COSM1406556 c.911G>A p.R304H Substitution - Missense 2:23695651-23695651 + SC_9104 COSM5566417 c.1697G>A p.R566H Substitution - Missense 2:23695777-23695777 + S02292 COSM5687801 c.499G>T p.A167S Substitution - Missense 2:23642409-23642409 + pfg119T COSM4751258 c.67G>A p.V23I Substitution - Missense 2:23562263-23562263 + LP6007567-DNA_A01 COSM5033270 c.388T>C p.C130R Substitution - Missense 2:23684506-23684506 + SC_9072 COSM5571532 c.1503C>T p.V501V Substitution - coding silent 2:23693489-23693489 + 11T COSM3714164 c.1844C>A p.A615E Substitution - Missense 2:23706543-23706543 + 408 COSM4430495 c.798G>A p.P266P Substitution - coding silent 2:23642708-23642708 + ESCC_162 COSM5647853 c.65G>A p.S22N Substitution - Missense 2:23562261-23562261 + sysucc-1972T COSM5480445 c.635C>T p.T212M Substitution - Missense 2:23693281-23693281 + tumor_4120193 COSM1734010 c.424G>A p.V142M Substitution - Missense 2:23691678-23691678 + PD4613a COSM5768465 c.2037C>T p.L679L Substitution - coding silent 2:23696445-23696445 + LP6007567-DNA_A01 COSM5033269 c.1048T>C p.C350R Substitution - Missense 2:23684506-23684506 + 61 COSM5735960 c.1087G>A p.A363T Substitution - Missense 2:23695956-23695956 + TCGA-A6-6781-01 COSM1406504 c.124G>A p.G42S Substitution - Missense 2:23562320-23562320 + Gp5D COSM2908987 c.1996G>A p.V666I Substitution - Missense 2:23696404-23696404 + LUAD-5V8LT COSM401935 c.687C>A p.S229R Substitution - Missense 2:23693333-23693333 + HX34T COSM3709520 c.2503C>T p.P835S Substitution - Missense 2:23706539-23706539 + PT35 COSM5911670 c.2549G>A p.W850* Substitution - Nonsense 2:23706585-23706585 + CSCC-49-T COSM4526971 c.771G>A p.K257K Substitution - coding silent 2:23693417-23693417 + TCGA-AP-A0LM-01 COSM1592006 c.2590G>A p.G864S Substitution - Missense 2:23706626-23706626 + 8044826 COSM1158162 c.56G>A p.R19H Substitution - Missense 2:23562252-23562252 + ZZUFHECRKL-G060T COSM5438452 c.1712C>T p.T571M Substitution - Missense 2:23695792-23695792 + C086 COSM5533470 c.1621G>A p.E541K Substitution - Missense 2:23695701-23695701 + TCGA-G4-6588-01 COSM1406550 c.340C>T p.R114W Substitution - Missense 2:23639193-23639193 + WSU-HN8 COSM4602744 c.989G>A p.R330Q Substitution - Missense 2:23695729-23695729 + PACA46 COSM1158162 c.56G>A p.R19H Substitution - Missense 2:23562252-23562252 + PD4613a COSM5768466 c.1377C>T p.L459L Substitution - coding silent 2:23696445-23696445 + TCGA-CM-5348-01 COSM1406556 c.911G>A p.R304H Substitution - Missense 2:23695651-23695651 + ESCC_47 COSM5630757 c.2382C>G p.Y794* Substitution - Nonsense 2:23703801-23703801 + TCGA-EK-A2PL-01 COSM4838493 c.2068G>A p.G690R Substitution - Missense 2:23696476-23696476 + 804168 COSM158748 c.1503T>G p.S501S Substitution - coding silent 2:23703246-23703246 + CSCC-54-T COSM4513345 c.274C>T p.P92S Substitution - Missense 2:23642844-23642844 + PTC-10C COSM4133594 c.1620C>T p.I540I Substitution - coding silent 2:23703363-23703363 + ESCC_11 COSM5624423 c.1717C>G p.R573G Substitution - Missense 2:23695797-23695797 + LP6005500-DNA_B03 COSM1018593 c.1959C>T p.S653S Substitution - coding silent 2:23706658-23706658 + TCGA-EK-A2PL-01 COSM4838494 c.1408G>A p.G470R Substitution - Missense 2:23696476-23696476 + NOKSI COSM4595486 c.1932C>G p.C644W Substitution - Missense 2:23706631-23706631 + AML40 COSM3733131 c.2166T>G p.S722S Substitution - coding silent 2:23703246-23703246 + CRC-19T COSM5481728 c.286-1G>T p.? Unknown 2:23639138-23639138 + SNU-175 COSM4650583 c.173C>T p.A58V Substitution - Missense 2:23642743-23642743 + PCSI_0083_Pa_X COSM5420360 c.2324C>T p.T775M Substitution - Missense 2:23703743-23703743 + AOCS-152-1-X COSM4128241 c.1450G>A p.D484N Substitution - Missense 2:23703190-23703190 + PTC_285 COSM5958805 c.2060delC p.L688fs*51 Deletion - Frameshift 2:23696468-23696468 + ZZUFHECRKL-G060T COSM5438453 c.1052C>T p.T351M Substitution - Missense 2:23695792-23695792 + sysucc-1925T COSM5450892 c.57C>T p.P19P Substitution - coding silent 2:23642627-23642627 + CRC-02T COSM5455027 c.2611T>C p.Y871H Substitution - Missense 2:23706647-23706647 + sysucc-1247T COSM5764623 c.72C>T p.N24N Substitution - coding silent 2:23562268-23562268 + TCGA-B5-A0JY-01 COSM1018560 c.1012C>T p.R338C Substitution - Missense 2:23695752-23695752 + TCGA-B5-A0JY-01 COSM1591970 c.1672C>T p.R558C Substitution - Missense 2:23695752-23695752 + tumor_4120193 COSM1734009 c.1084G>A p.V362M Substitution - Missense 2:23691678-23691678 + YUKAT COSM5396596 c.2444+1G>A p.? Unknown 2:23703864-23703864 + ESCC-110T COSM3939006 c.1701C>T p.A567A Substitution - coding silent 2:23703783-23703783 + SJHGG045_A COSM4970859 c.1877G>A p.R626H Substitution - Missense 2:23696086-23696086 + TCGA-CC-A7IH-01 COSM4923976 c.1655T>A p.L552Q Substitution - Missense 2:23695735-23695735 + CSCC-41-T COSM4471518 c.1062C>T p.T354T Substitution - coding silent 2:23695802-23695802 + CSCC-44-T COSM4507449 c.86C>T p.P29L Substitution - Missense 2:23642656-23642656 + YUKAT COSM5396597 c.1781+1G>A p.? Unknown 2:23703864-23703864 + TCGA-AM-5821-01 COSM3695367 c.457G>T p.A153S Substitution - Missense 2:23642367-23642367 + TCGA-AX-A0J0-01 COSM1018593 c.1959C>T p.S653S Substitution - coding silent 2:23706658-23706658 + C086 COSM5533471 c.961G>A p.E321K Substitution - Missense 2:23695701-23695701 + CSCC-54-T COSM4513344 c.934C>T p.P312S Substitution - Missense 2:23642844-23642844 + PD6415a COSM5794532 c.115G>T p.A39S Substitution - Missense 2:23562311-23562311 + PTC-7C COSM4133591 c.2253C>T p.Y751Y Substitution - coding silent 2:23703333-23703333 + LS411 COSM1406555 c.1571G>A p.R524H Substitution - Missense 2:23695651-23695651 + Gp2D COSM2908988 c.1336G>A p.V446I Substitution - Missense 2:23696404-23696404 + PT35 COSM5911671 c.1886G>A p.W629* Substitution - Nonsense 2:23706585-23706585 + TCGA-AP-A0LM-01 COSM1018592 c.1927G>A p.G643S Substitution - Missense 2:23706626-23706626 + PD6048a COSM5781754 c.436C>A p.P146T Substitution - Missense 2:23642346-23642346 + 199-06-01TD COSM5418061 c.2018G>A p.R673H Substitution - Missense 2:23696426-23696426 + PCSI_0628_Pa_P_526 COSM5946249 c.1095C>T p.S365S Substitution - coding silent 2:23691689-23691689 + CSCC-20-T COSM4508555 c.77C>T p.T26M Substitution - Missense 2:23562273-23562273 + S00842 COSM5662230 c.608A>G p.H203R Substitution - Missense 2:23642518-23642518 + TCGA-D1-A17H-01 COSM1018546 c.789C>T p.Y263Y Substitution - coding silent 2:23693435-23693435 + sysucc-810T COSM1482939 c.2097C>T p.H699H Substitution - coding silent 2:23696505-23696505 + tumor_4178345 COSM5948284 c.703G>A p.V235M Substitution - Missense 2:23642613-23642613 + TCGA-EI-6917-01 COSM1406554 c.780C>A p.F260L Substitution - Missense 2:23693426-23693426 + TCGA-B5-A11H-01 COSM1591986 c.78G>A p.T26T Substitution - coding silent 2:23562274-23562274 + C135 COSM4618196 c.8G>A p.R3Q Substitution - Missense 2:23562204-23562204 + 8016470 COSM3391610 c.1543-3C>T p.? Unknown 2:23695620-23695620 + ESCC_134 COSM3051696 c.889C>T p.R297W Substitution - Missense 2:23642799-23642799 + PTC-7C COSM4133592 c.1590C>T p.Y530Y Substitution - coding silent 2:23703333-23703333 + PCSI_0083_Pa_P_526 COSM2908982 c.1068G>A p.P356P Substitution - coding silent 2:23695808-23695808 + MO_1013 COSM5557158 c.997A>G p.I333V Substitution - Missense 2:23684455-23684455 + SNU-175 COSM2908989 c.2059A>G p.T687A Substitution - Missense 2:23696467-23696467 + 8016470 COSM3391611 c.883-3C>T p.? Unknown 2:23695620-23695620 + CSCC-49-T COSM4526970 c.1431G>A p.K477K Substitution - coding silent 2:23693417-23693417 + PCSI_0090_Pa_P COSM3380100 c.1393G>A p.E465K Substitution - Missense 2:23693379-23693379 + Gp2D COSM2908987 c.1996G>A p.V666I Substitution - Missense 2:23696404-23696404 + SC_9043 COSM5547025 c.615_622+4delCTTTCTCGGTGA p.? Unknown 2:23691869-23691880 + S02295 COSM5689201 c.1789G>C p.V597L Substitution - Missense 2:23706488-23706488 + HCC70T COSM1614562 c.285+2T>A p.? Unknown 2:23562483-23562483 + SC_9072 COSM5571533 c.843C>T p.V281V Substitution - coding silent 2:23693489-23693489 + LUAD-S01302 COSM395967 c.1475C>T p.A492V Substitution - Missense 2:23703215-23703215 + ZZUFHECRKL-G071T COSM5438970 c.940G>T p.E314* Substitution - Nonsense 2:23642850-23642850 + PCSI_0090_Pa_X COSM3380100 c.1393G>A p.E465K Substitution - Missense 2:23693379-23693379 + SJHGG045_A COSM4970860 c.1217G>A p.R406H Substitution - Missense 2:23696086-23696086 + SNU-175 COSM2908922 c.670G>A p.E224K Substitution - Missense 2:23693316-23693316 + SJHGG089_A COSM4971509 c.513C>T p.T171T Substitution - coding silent 2:23642423-23642423 + OSCC-GB_00110111 COSM3714164 c.1844C>A p.A615E Substitution - Missense 2:23706543-23706543 + TCGA-EI-6917-01 COSM1406553 c.1440C>A p.F480L Substitution - Missense 2:23693426-23693426 + PCSI_0083_Pa_P_526 COSM2908981 c.1728G>A p.P576P Substitution - coding silent 2:23695808-23695808 + TCGA-AX-A0J0-01 COSM1592005 c.2622C>T p.S874S Substitution - coding silent 2:23706658-23706658 + AOCS-152-1-X COSM4128240 c.2110G>A p.D704N Substitution - Missense 2:23703190-23703190 + HX34T COSM3709521 c.1840C>T p.P614S Substitution - Missense 2:23706539-23706539 + TCGA-BS-A0TE-01 COSM1591971 c.1502T>A p.V501D Substitution - Missense 2:23693488-23693488 + SNU-175 COSM4650582 c.833C>T p.A278V Substitution - Missense 2:23642743-23642743 + OSCC-GB_00110111 COSM3714163 c.2507C>A p.A836E Substitution - Missense 2:23706543-23706543 + BD10T COSM5514487 c.1229C>T p.A410V Substitution - Missense 2:23691823-23691823 + ESCC-110T COSM3939005 c.2364C>T p.A788A Substitution - coding silent 2:23703783-23703783 + 8035591 COSM3391612 c.1826A>G p.N609S Substitution - Missense 2:23696035-23696035 + KM12 COSM3051664 c.322G>T p.G108* Substitution - Nonsense 2:23639175-23639175 + sysucc-1972T COSM5480444 c.1295C>T p.T432M Substitution - Missense 2:23693281-23693281 + LIM1899 COSM1591986 c.78G>A p.T26T Substitution - coding silent 2:23562274-23562274 + DLD1 COSM3052094 c.349G>A p.G117S Substitution - Missense 2:23684467-23684467 + SC_9081 COSM5569570 c.90C>T p.T30T Substitution - coding silent 2:23642660-23642660 + 37 COSM442562 c.480T>C p.I160I Substitution - coding silent 2:23642390-23642390 + MO_1114 COSM5565159 c.77G>A p.R26H Substitution - Missense 2:23642647-23642647 + TCGA-A5-A0RA-01 COSM1018545 c.732C>T p.P244P Substitution - coding silent 2:23693378-23693378 + PD4844a COSM5771505 c.2106-7C>G p.? Unknown 2:23703179-23703179 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.130547;Hs.130553;Hs.130555;Hs.130562;Hs.130563;Hs.130572;Hs.130573;Hs.130580;Hs.130588;Hs.130590;Hs.130591;Hs.130593 2p24.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.A402D c.1205C>A 2 23914669 BRCA C T Missense p.A161V c.482C>T 2 23865262 UCEC C T Missense p.P209L c.626C>T 2 23865406 UCEC C T Synonymous p.S361S c.1083C>T 2 23914547 OV C T Synonymous p.Y483Y c.1449C>T 2 23916305 UCEC G A IntronicSNV . c.286-2288G>A 2 23859721 BRCA G A IntronicSNV . c.940+17650G>A 2 23883370 CLL G A Synonymous p.T26T c.78G>A 2 23785144 UCEC T A Missense p.V501D c.1502T>A 2 23916358 UCEC T C IntronicSNV . c.1-136488T>C 2 23648579 PIA - T Frameshift p.P717Afs*51 c.2147dupT 2 23926097 OV T G Synonymous p.S722S c.2166T>G 2 23926116 AML