Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 2 181846866 181846866 + Missense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 g.chr2:181846866G>A c.97G>A c.(97-99)Gaa>Aaa p.E33K BRCA 2 181925537 181925537 + Missense_Mutation SNP C C T TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 g.chr2:181925537C>T c.524C>T c.(523-525)cCt>cTt p.P175L COAD 2 181848803 181848805 + In_Frame_Del DEL TCC TCC - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:181848803_181848805delTCC c.228_230delTCC c.(226-231)gatcct>gat p.P79del COADREAD 2 181848803 181848805 + In_Frame_Del DEL TCC TCC - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:181848803_181848805delTCC c.228_230delTCC c.(226-231)gatcct>gat p.P79del DLBC 2 181846844 181846844 + Silent SNP A A T TCGA-G8-6907-01A-11D-2210-10 TCGA-G8-6907-14A-01D-2210-10 g.chr2:181846844A>T c.75A>T c.(73-75)cgA>cgT p.R25R ESCA 2 181846835 181846835 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chr2:181846835G>A c.66G>A c.(64-66)gcG>gcA p.A22A GBM 2 181846854 181846854 + Missense_Mutation SNP G G A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 g.chr2:181846854G>A c.85G>A c.(85-87)Gct>Act p.A29T GBMLGG 2 181846854 181846854 + Missense_Mutation SNP G G A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 g.chr2:181846854G>A c.85G>A c.(85-87)Gct>Act p.A29T LUAD 2 181846874 181846874 + Missense_Mutation SNP A A T TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr2:181846874A>T c.105A>T c.(103-105)caA>caT p.Q35H LUAD 2 181922478 181922478 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr2:181922478G>T c.304G>T c.(304-306)Ggt>Tgt p.G102C LUAD 2 181922478 181922478 + Missense_Mutation SNP G G T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr2:181922478G>T c.304G>T c.(304-306)Ggt>Tgt p.G102C LUAD 2 181922511 181922511 + Missense_Mutation SNP G G A TCGA-93-8067-01A-11D-2284-08 TCGA-93-8067-10A-01D-2284-08 g.chr2:181922511G>A c.337G>A c.(337-339)Gat>Aat p.D113N LUAD 2 181925523 181925523 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 g.chr2:181925523G>C c.510G>C c.(508-510)ttG>ttC p.L170F LUAD 2 181927579 181927579 + Missense_Mutation SNP G G T TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 g.chr2:181927579G>T c.588G>T c.(586-588)agG>agT p.R196S LUSC 2 181846838 181846838 + Missense_Mutation SNP C C A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 g.chr2:181846838C>A c.69C>A c.(67-69)gaC>gaA p.D23E LUSC 2 181927572 181927572 + Missense_Mutation SNP A A G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 g.chr2:181927572A>G c.581A>G c.(580-582)cAc>cGc p.H194R LUSC 2 181927582 181927582 + Silent SNP A A T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 g.chr2:181927582A>T c.591A>T c.(589-591)atA>atT p.I197I OV 2 181846835 181846835 + Silent SNP G G T TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 g.chr2:181846835G>T c.66G>T c.(64-66)gcG>gcT p.A22A PAAD 2 181846774 181846774 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:181846774C>T c.5C>T c.(4-6)tCc>tTc p.S2F PAAD 2 181922476 181922476 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr2:181922476C>A c.302C>A c.(301-303)cCg>cAg p.P101Q SKCM 2 181922535 181922535 + Missense_Mutation SNP C C T TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr2:181922535C>T c.361C>T c.(361-363)Cca>Tca p.P121S

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 181922788 181922788 single base substitution A T downstream_gene_variant BOCA-FR 2 181922788 181922788 single base substitution A T intron_variant BOCA-FR 2 181922788 181922788 single base substitution A T upstream_gene_variant BOCA-FR 2 181927369 181927369 single base substitution T C downstream_gene_variant BOCA-FR 2 181927369 181927369 single base substitution T C intron_variant BOCA-FR 2 181927369 181927369 single base substitution T C upstream_gene_variant BOCA-FR 2 181928519 181928519 single base substitution A G downstream_gene_variant BOCA-FR 2 181928519 181928519 single base substitution A G intron_variant BRCA-EU 2 181827090 181827090 single base substitution C G upstream_gene_variant BRCA-EU 2 181829352 181829352 single base substitution C T upstream_gene_variant BRCA-EU 2 181829903 181829903 single base substitution G C upstream_gene_variant BRCA-EU 2 181830045 181830045 single base substitution C T upstream_gene_variant BRCA-EU 2 181830743 181830743 single base substitution C G upstream_gene_variant BRCA-EU 2 181831884 181831884 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 181832406 181832406 single base substitution G A intron_variant BRCA-EU 2 181832470 181832470 deletion of <=200bp A - intron_variant BRCA-EU 2 181833295 181833295 deletion of <=200bp A - intron_variant BRCA-EU 2 181833409 181833409 single base substitution C T intron_variant BRCA-EU 2 181833424 181833424 single base substitution T G intron_variant BRCA-EU 2 181833525 181833525 single base substitution T A intron_variant BRCA-EU 2 181833526 181833526 single base substitution C T intron_variant BRCA-EU 2 181833649 181833649 single base substitution G C intron_variant BRCA-EU 2 181835172 181835172 single base substitution T C intron_variant BRCA-EU 2 181835232 181835232 single base substitution C G intron_variant BRCA-EU 2 181836641 181836641 single base substitution C T intron_variant BRCA-EU 2 181836793 181836793 single base substitution G C intron_variant BRCA-EU 2 181837200 181837200 single base substitution C A intron_variant BRCA-EU 2 181838221 181838221 single base substitution A G intron_variant BRCA-EU 2 181838310 181838310 single base substitution C G intron_variant BRCA-EU 2 181838419 181838419 single base substitution G T intron_variant BRCA-EU 2 181838969 181838969 single base substitution T C intron_variant BRCA-EU 2 181839459 181839459 single base substitution G A intron_variant BRCA-EU 2 181840487 181840487 single base substitution T A intron_variant BRCA-EU 2 181840487 181840487 single base substitution T A upstream_gene_variant BRCA-EU 2 181841670 181841670 single base substitution C T intron_variant BRCA-EU 2 181841670 181841670 single base substitution C T upstream_gene_variant BRCA-EU 2 181841749 181841749 single base substitution C G intron_variant BRCA-EU 2 181841749 181841749 single base substitution C G upstream_gene_variant BRCA-EU 2 181842363 181842363 single base substitution T G intron_variant BRCA-EU 2 181842363 181842363 single base substitution T G upstream_gene_variant BRCA-EU 2 181842464 181842464 single base substitution G A intron_variant BRCA-EU 2 181842464 181842464 single base substitution G A upstream_gene_variant BRCA-EU 2 181842465 181842465 single base substitution G T intron_variant BRCA-EU 2 181842465 181842465 single base substitution G T upstream_gene_variant BRCA-EU 2 181843175 181843175 single base substitution G A intron_variant BRCA-EU 2 181843175 181843175 single base substitution G A upstream_gene_variant BRCA-EU 2 181844565 181844565 deletion of <=200bp C - intron_variant BRCA-EU 2 181844565 181844565 deletion of <=200bp C - upstream_gene_variant BRCA-EU 2 181845405 181845405 single base substitution C G 5_prime_UTR_variant BRCA-EU 2 181845405 181845405 single base substitution C G intron_variant BRCA-EU 2 181845405 181845405 single base substitution C G upstream_gene_variant BRCA-EU 2 181845619 181845619 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 2 181845619 181845619 single base substitution C G intron_variant BRCA-EU 2 181845619 181845619 single base substitution C G upstream_gene_variant BRCA-EU 2 181846470 181846470 single base substitution A T intron_variant BRCA-EU 2 181846470 181846470 single base substitution A T upstream_gene_variant BRCA-EU 2 181846934 181846934 single base substitution C A exon_variant BRCA-EU 2 181846934 181846934 single base substitution C A synonymous_variant T55T 165C>A BRCA-EU 2 181846934 181846934 single base substitution C A upstream_gene_variant BRCA-EU 2 181847263 181847263 single base substitution C A intron_variant BRCA-EU 2 181847263 181847263 single base substitution C A upstream_gene_variant BRCA-EU 2 181847582 181847582 single base substitution G T intron_variant BRCA-EU 2 181847582 181847582 single base substitution G T upstream_gene_variant BRCA-EU 2 181847583 181847583 single base substitution A T intron_variant BRCA-EU 2 181847583 181847583 single base substitution A T upstream_gene_variant BRCA-EU 2 181847626 181847626 single base substitution T G intron_variant BRCA-EU 2 181847626 181847626 single base substitution T G upstream_gene_variant BRCA-EU 2 181848178 181848178 single base substitution C T intron_variant BRCA-EU 2 181848178 181848178 single base substitution C T upstream_gene_variant BRCA-EU 2 181848301 181848301 deletion of <=200bp T - intron_variant BRCA-EU 2 181848301 181848301 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 181851015 181851015 single base substitution G T intron_variant BRCA-EU 2 181851511 181851511 single base substitution C G intron_variant BRCA-EU 2 181851937 181851937 single base substitution T G intron_variant BRCA-EU 2 181852322 181852322 single base substitution A C intron_variant BRCA-EU 2 181853634 181853634 insertion of <=200bp - A intron_variant BRCA-EU 2 181853905 181853905 single base substitution T C intron_variant BRCA-EU 2 181856104 181856104 single base substitution A G downstream_gene_variant BRCA-EU 2 181856104 181856104 single base substitution A G intron_variant BRCA-EU 2 181856361 181856361 insertion of <=200bp - T downstream_gene_variant BRCA-EU 2 181856361 181856361 insertion of <=200bp - T intron_variant BRCA-EU 2 181856481 181856481 single base substitution G C downstream_gene_variant BRCA-EU 2 181856481 181856481 single base substitution G C intron_variant BRCA-EU 2 181857369 181857369 single base substitution C T downstream_gene_variant BRCA-EU 2 181857369 181857369 single base substitution C T intron_variant BRCA-EU 2 181858339 181858339 single base substitution C T downstream_gene_variant BRCA-EU 2 181858339 181858339 single base substitution C T intron_variant BRCA-EU 2 181858461 181858461 single base substitution C G downstream_gene_variant BRCA-EU 2 181858461 181858461 single base substitution C G intron_variant BRCA-EU 2 181859355 181859355 single base substitution T C downstream_gene_variant BRCA-EU 2 181859355 181859355 single base substitution T C intron_variant BRCA-EU 2 181859850 181859850 single base substitution C T intron_variant BRCA-EU 2 181860259 181860259 single base substitution C T intron_variant BRCA-EU 2 181861095 181861095 single base substitution C T intron_variant BRCA-EU 2 181861597 181861597 deletion of <=200bp A - intron_variant BRCA-EU 2 181861597 181861597 insertion of <=200bp - A intron_variant BRCA-EU 2 181863974 181863974 single base substitution G A intron_variant BRCA-EU 2 181864363 181864363 single base substitution C G intron_variant BRCA-EU 2 181865080 181865080 single base substitution A C intron_variant BRCA-EU 2 181866638 181866638 single base substitution T C intron_variant BRCA-EU 2 181868555 181868555 single base substitution G T intron_variant BRCA-EU 2 181870951 181870951 single base substitution T C intron_variant BRCA-EU 2 181871183 181871183 single base substitution G C intron_variant BRCA-EU 2 181874418 181874418 single base substitution C G intron_variant BRCA-EU 2 181877312 181877312 single base substitution G A intron_variant BRCA-EU 2 181877517 181877517 single base substitution G C intron_variant BRCA-EU 2 181877762 181877762 single base substitution C G intron_variant BRCA-EU 2 181878206 181878206 single base substitution G A intron_variant BRCA-EU 2 181881957 181881957 single base substitution T G intron_variant BRCA-EU 2 181882072 181882072 single base substitution C T intron_variant BRCA-EU 2 181882197 181882197 deletion of <=200bp A - intron_variant BRCA-EU 2 181882505 181882505 single base substitution T C intron_variant BRCA-EU 2 181882522 181882522 single base substitution C G intron_variant BRCA-EU 2 181883186 181883186 single base substitution G T intron_variant BRCA-EU 2 181883611 181883611 single base substitution G C intron_variant BRCA-EU 2 181883743 181883743 single base substitution G T intron_variant BRCA-EU 2 181884003 181884003 single base substitution G A intron_variant BRCA-EU 2 181884005 181884005 single base substitution G A intron_variant BRCA-EU 2 181884019 181884019 single base substitution G T intron_variant BRCA-EU 2 181884179 181884179 single base substitution C T intron_variant BRCA-EU 2 181884326 181884326 single base substitution A G intron_variant BRCA-EU 2 181884365 181884365 single base substitution C G intron_variant BRCA-EU 2 181884390 181884390 single base substitution A G intron_variant BRCA-EU 2 181884546 181884546 single base substitution T G intron_variant BRCA-EU 2 181885561 181885561 single base substitution T A intron_variant BRCA-EU 2 181887945 181887945 single base substitution T C intron_variant BRCA-EU 2 181889533 181889533 single base substitution C G intron_variant BRCA-EU 2 181889831 181889831 single base substitution C G intron_variant BRCA-EU 2 181891116 181891116 single base substitution T C intron_variant BRCA-EU 2 181891450 181891450 single base substitution G A intron_variant BRCA-EU 2 181891503 181891503 single base substitution A T intron_variant BRCA-EU 2 181891538 181891538 single base substitution A T intron_variant BRCA-EU 2 181893429 181893429 deletion of <=200bp T - intron_variant BRCA-EU 2 181893685 181893685 deletion of <=200bp T - intron_variant BRCA-EU 2 181894296 181894296 insertion of <=200bp - T intron_variant BRCA-EU 2 181894485 181894485 single base substitution A T intron_variant BRCA-EU 2 181894566 181894566 single base substitution C T intron_variant BRCA-EU 2 181896498 181896498 single base substitution C G intron_variant BRCA-EU 2 181897531 181897531 single base substitution C T intron_variant BRCA-EU 2 181897870 181897870 single base substitution T C intron_variant BRCA-EU 2 181900496 181900496 single base substitution G C intron_variant BRCA-EU 2 181900891 181900891 single base substitution G A intron_variant BRCA-EU 2 181901006 181901006 single base substitution G C intron_variant BRCA-EU 2 181901321 181901321 single base substitution G T intron_variant BRCA-EU 2 181901663 181901663 single base substitution C T intron_variant BRCA-EU 2 181901878 181901878 single base substitution C G intron_variant BRCA-EU 2 181903418 181903418 single base substitution G A intron_variant BRCA-EU 2 181903713 181903713 single base substitution G T intron_variant BRCA-EU 2 181905610 181905610 single base substitution G A intron_variant BRCA-EU 2 181905747 181905747 single base substitution C T intron_variant BRCA-EU 2 181906192 181906192 single base substitution G A intron_variant BRCA-EU 2 181908355 181908355 single base substitution G A intron_variant BRCA-EU 2 181908597 181908597 single base substitution G C intron_variant BRCA-EU 2 181908618 181908618 single base substitution G C intron_variant BRCA-EU 2 181909255 181909255 single base substitution G T intron_variant BRCA-EU 2 181910529 181910529 single base substitution T G intron_variant BRCA-EU 2 181911794 181911794 single base substitution C T intron_variant BRCA-EU 2 181912107 181912107 single base substitution C T intron_variant BRCA-EU 2 181912185 181912185 single base substitution C G intron_variant BRCA-EU 2 181912379 181912379 single base substitution C G intron_variant BRCA-EU 2 181912548 181912548 single base substitution G T intron_variant BRCA-EU 2 181913071 181913071 single base substitution G T intron_variant BRCA-EU 2 181913755 181913755 single base substitution G A intron_variant BRCA-EU 2 181914553 181914553 single base substitution C T intron_variant BRCA-EU 2 181915704 181915704 single base substitution A G intron_variant BRCA-EU 2 181916121 181916127 deletion of <=200bp CTTAGAA - intron_variant BRCA-EU 2 181917938 181917938 single base substitution C T intron_variant BRCA-EU 2 181917938 181917938 single base substitution C T upstream_gene_variant BRCA-EU 2 181919132 181919132 single base substitution G T intron_variant BRCA-EU 2 181919132 181919132 single base substitution G T upstream_gene_variant BRCA-EU 2 181919750 181919750 single base substitution G A intron_variant BRCA-EU 2 181919750 181919750 single base substitution G A upstream_gene_variant BRCA-EU 2 181920734 181920734 single base substitution A G intron_variant BRCA-EU 2 181920734 181920734 single base substitution A G upstream_gene_variant BRCA-EU 2 181921884 181921884 single base substitution C T intron_variant BRCA-EU 2 181921884 181921884 single base substitution C T upstream_gene_variant BRCA-EU 2 181923138 181923138 single base substitution C G downstream_gene_variant BRCA-EU 2 181923138 181923138 single base substitution C G intron_variant BRCA-EU 2 181923138 181923138 single base substitution C G upstream_gene_variant BRCA-EU 2 181924185 181924185 single base substitution C T downstream_gene_variant BRCA-EU 2 181924185 181924185 single base substitution C T intron_variant BRCA-EU 2 181924185 181924185 single base substitution C T upstream_gene_variant BRCA-EU 2 181925218 181925218 single base substitution A T downstream_gene_variant BRCA-EU 2 181925218 181925218 single base substitution A T intron_variant BRCA-EU 2 181925218 181925218 single base substitution A T upstream_gene_variant BRCA-EU 2 181927028 181927028 single base substitution A T downstream_gene_variant BRCA-EU 2 181927028 181927028 single base substitution A T intron_variant BRCA-EU 2 181927028 181927028 single base substitution A T upstream_gene_variant BRCA-EU 2 181928460 181928460 single base substitution G C downstream_gene_variant BRCA-EU 2 181928460 181928460 single base substitution G C intron_variant BRCA-EU 2 181932497 181932497 single base substitution A T downstream_gene_variant BRCA-EU 2 181932497 181932497 single base substitution A T intron_variant BRCA-EU 2 181932589 181932589 single base substitution G C downstream_gene_variant BRCA-EU 2 181932589 181932589 single base substitution G C intron_variant BRCA-EU 2 181933066 181933066 deletion of <=200bp G - downstream_gene_variant BRCA-EU 2 181933066 181933066 deletion of <=200bp G - intron_variant BRCA-EU 2 181933575 181933575 single base substitution A G intron_variant BRCA-EU 2 181933746 181933746 deletion of <=200bp T - intron_variant BRCA-EU 2 181934135 181934135 single base substitution C T intron_variant BRCA-EU 2 181934213 181934213 single base substitution G A intron_variant BRCA-EU 2 181935259 181935259 single base substitution G C intron_variant BRCA-EU 2 181935490 181935490 single base substitution G T intron_variant BRCA-EU 2 181935866 181935866 single base substitution T G intron_variant BRCA-EU 2 181937848 181937848 single base substitution T G intron_variant BRCA-EU 2 181938020 181938020 single base substitution G T intron_variant BRCA-EU 2 181939479 181939479 single base substitution G C intron_variant BRCA-EU 2 181940843 181940843 single base substitution T C intron_variant BRCA-EU 2 181942231 181942231 single base substitution T C downstream_gene_variant BRCA-EU 2 181942687 181942687 single base substitution T C downstream_gene_variant BRCA-EU 2 181942909 181942909 single base substitution T A downstream_gene_variant BRCA-EU 2 181943173 181943173 single base substitution G A downstream_gene_variant BRCA-EU 2 181943174 181943174 single base substitution G T downstream_gene_variant BRCA-EU 2 181943845 181943845 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 181944348 181944348 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 181944348 181944348 insertion of <=200bp - A downstream_gene_variant BRCA-FR 2 181829903 181829903 single base substitution G C upstream_gene_variant BRCA-FR 2 181830045 181830045 single base substitution C T upstream_gene_variant BRCA-FR 2 181841670 181841670 single base substitution C T intron_variant BRCA-FR 2 181841670 181841670 single base substitution C T upstream_gene_variant BRCA-FR 2 181853905 181853905 single base substitution T C intron_variant BRCA-FR 2 181856481 181856481 single base substitution G C downstream_gene_variant BRCA-FR 2 181856481 181856481 single base substitution G C intron_variant BRCA-FR 2 181868555 181868555 single base substitution G T intron_variant BRCA-FR 2 181883085 181883085 single base substitution C G intron_variant BRCA-FR 2 181889831 181889831 single base substitution C G intron_variant BRCA-FR 2 181924991 181924991 single base substitution A T downstream_gene_variant BRCA-FR 2 181924991 181924991 single base substitution A T intron_variant BRCA-FR 2 181924991 181924991 single base substitution A T upstream_gene_variant BRCA-FR 2 181938473 181938473 single base substitution G T intron_variant BRCA-FR 2 181939479 181939479 single base substitution G C intron_variant BRCA-UK 2 181842363 181842363 single base substitution T G intron_variant BRCA-UK 2 181842363 181842363 single base substitution T G upstream_gene_variant BRCA-UK 2 181842464 181842464 single base substitution G A intron_variant BRCA-UK 2 181842464 181842464 single base substitution G A upstream_gene_variant BRCA-UK 2 181842465 181842465 single base substitution G T intron_variant BRCA-UK 2 181842465 181842465 single base substitution G T upstream_gene_variant BRCA-UK 2 181910097 181910097 single base substitution G C intron_variant BRCA-UK 2 181916121 181916127 deletion of <=200bp CTTAGAA - intron_variant BRCA-UK 2 181925494 181925494 single base substitution A T downstream_gene_variant BRCA-UK 2 181925494 181925494 single base substitution A T exon_variant BRCA-UK 2 181925494 181925494 single base substitution A T intron_variant BRCA-UK 2 181925494 181925494 single base substitution A T stop_gained K161* 481A>T BRCA-UK 2 181925494 181925494 single base substitution A T upstream_gene_variant BRCA-UK 2 181934135 181934135 single base substitution C T intron_variant BRCA-US 2 181925537 181925537 single base substitution C T downstream_gene_variant BRCA-US 2 181925537 181925537 single base substitution C T intron_variant BRCA-US 2 181925537 181925537 single base substitution C T missense_variant P175L 524C>T BRCA-US 2 181925537 181925537 single base substitution C T splice_region_variant BRCA-US 2 181925537 181925537 single base substitution C T synonymous_variant ?175 BRCA-US 2 181925537 181925537 single base substitution C T upstream_gene_variant BTCA-JP 2 181846888 181846890 deletion of <=200bp CTT - exon_variant BTCA-JP 2 181846888 181846890 deletion of <=200bp CTT - inframe_deletion PS40P BTCA-JP 2 181846888 181846890 deletion of <=200bp CTT - upstream_gene_variant CLLE-ES 2 181835305 181835305 single base substitution G C intron_variant CLLE-ES 2 181856738 181856738 single base substitution G C downstream_gene_variant CLLE-ES 2 181856738 181856738 single base substitution G C intron_variant CLLE-ES 2 181910281 181910281 single base substitution C T intron_variant CLLE-ES 2 181927174 181927174 single base substitution T C downstream_gene_variant CLLE-ES 2 181927174 181927174 single base substitution T C intron_variant CLLE-ES 2 181927174 181927174 single base substitution T C upstream_gene_variant CLLE-ES 2 181928344 181928344 single base substitution A C downstream_gene_variant CLLE-ES 2 181928344 181928344 single base substitution A C intron_variant COAD-US 2 181848803 181848805 deletion of <=200bp TCC - exon_variant COAD-US 2 181848803 181848805 deletion of <=200bp TCC - inframe_deletion DP76D COAD-US 2 181927573 181927573 single base substitution C T 3_prime_UTR_variant COAD-US 2 181927573 181927573 single base substitution C T downstream_gene_variant COAD-US 2 181927573 181927573 single base substitution C T exon_variant COAD-US 2 181927573 181927573 single base substitution C T intron_variant COAD-US 2 181927573 181927573 single base substitution C T synonymous_variant H194H 582C>T COAD-US 2 181927573 181927573 single base substitution C T upstream_gene_variant COCA-CN 2 181847022 181847022 single base substitution C T intron_variant COCA-CN 2 181847022 181847022 single base substitution C T upstream_gene_variant COCA-CN 2 181847128 181847128 single base substitution A G intron_variant COCA-CN 2 181847128 181847128 single base substitution A G upstream_gene_variant COCA-CN 2 181851899 181851899 single base substitution G T intron_variant COCA-CN 2 181854500 181854500 single base substitution G A intron_variant COCA-CN 2 181925479 181925479 single base substitution G A downstream_gene_variant COCA-CN 2 181925479 181925479 single base substitution G A exon_variant COCA-CN 2 181925479 181925479 single base substitution G A intron_variant COCA-CN 2 181925479 181925479 single base substitution G A missense_variant A156T 466G>A COCA-CN 2 181925479 181925479 single base substitution G A upstream_gene_variant COCA-CN 2 181927343 181927343 single base substitution G T downstream_gene_variant COCA-CN 2 181927343 181927343 single base substitution G T intron_variant COCA-CN 2 181927343 181927343 single base substitution G T upstream_gene_variant ESAD-UK 2 181827054 181827054 single base substitution A G upstream_gene_variant ESAD-UK 2 181827582 181827582 single base substitution C G upstream_gene_variant ESAD-UK 2 181828176 181828176 single base substitution C G upstream_gene_variant ESAD-UK 2 181829879 181829879 single base substitution C T upstream_gene_variant ESAD-UK 2 181830172 181830172 single base substitution G T upstream_gene_variant ESAD-UK 2 181830226 181830226 single base substitution G A upstream_gene_variant ESAD-UK 2 181830432 181830432 single base substitution A G upstream_gene_variant ESAD-UK 2 181830820 181830820 single base substitution C A upstream_gene_variant ESAD-UK 2 181832339 181832339 single base substitution G A intron_variant ESAD-UK 2 181832883 181832883 single base substitution A C intron_variant ESAD-UK 2 181832903 181832903 single base substitution A C intron_variant ESAD-UK 2 181835478 181835478 single base substitution T A intron_variant ESAD-UK 2 181835738 181835738 single base substitution C T intron_variant ESAD-UK 2 181836402 181836402 single base substitution G A intron_variant ESAD-UK 2 181837634 181837634 single base substitution A G intron_variant ESAD-UK 2 181837920 181837920 single base substitution C G intron_variant ESAD-UK 2 181838342 181838342 single base substitution G A intron_variant ESAD-UK 2 181838666 181838666 single base substitution C A intron_variant ESAD-UK 2 181838937 181838937 deletion of <=200bp T - intron_variant ESAD-UK 2 181839491 181839491 single base substitution A C intron_variant ESAD-UK 2 181839699 181839699 single base substitution G A intron_variant ESAD-UK 2 181840494 181840494 single base substitution T A intron_variant ESAD-UK 2 181840494 181840494 single base substitution T A upstream_gene_variant ESAD-UK 2 181841860 181841860 single base substitution A T intron_variant ESAD-UK 2 181841860 181841860 single base substitution A T upstream_gene_variant ESAD-UK 2 181845959 181845959 single base substitution C T 5_prime_UTR_variant ESAD-UK 2 181845959 181845959 single base substitution C T intron_variant ESAD-UK 2 181845959 181845959 single base substitution C T upstream_gene_variant ESAD-UK 2 181846268 181846268 single base substitution C T intron_variant ESAD-UK 2 181846268 181846268 single base substitution C T upstream_gene_variant ESAD-UK 2 181851505 181851505 single base substitution C G intron_variant ESAD-UK 2 181851617 181851617 single base substitution A G intron_variant ESAD-UK 2 181851701 181851701 single base substitution T G intron_variant ESAD-UK 2 181853947 181853947 single base substitution A C intron_variant ESAD-UK 2 181853955 181853955 deletion of <=200bp A - intron_variant ESAD-UK 2 181853957 181853957 single base substitution T C intron_variant ESAD-UK 2 181854113 181854113 single base substitution T G intron_variant ESAD-UK 2 181859160 181859160 single base substitution C T downstream_gene_variant ESAD-UK 2 181859160 181859160 single base substitution C T intron_variant ESAD-UK 2 181859694 181859694 single base substitution A C downstream_gene_variant ESAD-UK 2 181859694 181859694 single base substitution A C intron_variant ESAD-UK 2 181861618 181861618 single base substitution G T intron_variant ESAD-UK 2 181861900 181861900 deletion of <=200bp T - intron_variant ESAD-UK 2 181862676 181862676 single base substitution G A intron_variant ESAD-UK 2 181864357 181864357 single base substitution C T intron_variant ESAD-UK 2 181867479 181867479 single base substitution G T intron_variant ESAD-UK 2 181868438 181868438 single base substitution C A intron_variant ESAD-UK 2 181871829 181871829 single base substitution C T intron_variant ESAD-UK 2 181876751 181876751 single base substitution C A intron_variant ESAD-UK 2 181881266 181881266 deletion of <=200bp T - intron_variant ESAD-UK 2 181883381 181883381 single base substitution C T intron_variant ESAD-UK 2 181884038 181884038 single base substitution C T intron_variant ESAD-UK 2 181884351 181884351 insertion of <=200bp - T intron_variant ESAD-UK 2 181885369 181885369 single base substitution C A intron_variant ESAD-UK 2 181886132 181886132 single base substitution T C intron_variant ESAD-UK 2 181886563 181886563 single base substitution G C intron_variant ESAD-UK 2 181888054 181888054 single base substitution T C intron_variant ESAD-UK 2 181888056 181888056 single base substitution A T intron_variant ESAD-UK 2 181888554 181888554 single base substitution T C intron_variant ESAD-UK 2 181889052 181889052 single base substitution T G intron_variant ESAD-UK 2 181890734 181890734 single base substitution G A intron_variant ESAD-UK 2 181891702 181891702 single base substitution C A intron_variant ESAD-UK 2 181892208 181892208 single base substitution G T intron_variant ESAD-UK 2 181892722 181892722 single base substitution C G intron_variant ESAD-UK 2 181893021 181893021 deletion of <=200bp A - intron_variant ESAD-UK 2 181893429 181893429 deletion of <=200bp T - intron_variant ESAD-UK 2 181893608 181893608 single base substitution G A intron_variant ESAD-UK 2 181895255 181895255 single base substitution C A intron_variant ESAD-UK 2 181895640 181895640 single base substitution T A intron_variant ESAD-UK 2 181897015 181897015 single base substitution A G intron_variant ESAD-UK 2 181897304 181897305 deletion of <=200bp TC - intron_variant ESAD-UK 2 181902788 181902788 single base substitution A G intron_variant ESAD-UK 2 181905752 181905752 single base substitution G A intron_variant ESAD-UK 2 181907851 181907853 deletion of <=200bp CTC - intron_variant ESAD-UK 2 181913380 181913380 single base substitution C T intron_variant ESAD-UK 2 181913693 181913693 single base substitution C G intron_variant ESAD-UK 2 181914133 181914133 single base substitution G T intron_variant ESAD-UK 2 181914949 181914949 single base substitution T G intron_variant ESAD-UK 2 181915602 181915602 single base substitution T G intron_variant ESAD-UK 2 181917583 181917583 single base substitution A T intron_variant ESAD-UK 2 181917583 181917583 single base substitution A T upstream_gene_variant ESAD-UK 2 181917885 181917885 single base substitution C T intron_variant ESAD-UK 2 181917885 181917885 single base substitution C T upstream_gene_variant ESAD-UK 2 181917948 181917948 single base substitution C T intron_variant ESAD-UK 2 181917948 181917948 single base substitution C T upstream_gene_variant ESAD-UK 2 181921738 181921738 single base substitution C A intron_variant ESAD-UK 2 181921738 181921738 single base substitution C A upstream_gene_variant ESAD-UK 2 181924220 181924220 single base substitution T C downstream_gene_variant ESAD-UK 2 181924220 181924220 single base substitution T C intron_variant ESAD-UK 2 181924220 181924220 single base substitution T C upstream_gene_variant ESAD-UK 2 181927382 181927382 single base substitution T C downstream_gene_variant ESAD-UK 2 181927382 181927382 single base substitution T C intron_variant ESAD-UK 2 181927382 181927382 single base substitution T C upstream_gene_variant ESAD-UK 2 181928040 181928040 single base substitution G C 3_prime_UTR_variant ESAD-UK 2 181928040 181928040 single base substitution G C downstream_gene_variant ESAD-UK 2 181928040 181928040 single base substitution G C intron_variant ESAD-UK 2 181929546 181929546 deletion of <=200bp T - downstream_gene_variant ESAD-UK 2 181929546 181929546 deletion of <=200bp T - intron_variant ESAD-UK 2 181931967 181931967 single base substitution A T downstream_gene_variant ESAD-UK 2 181931967 181931967 single base substitution A T intron_variant ESAD-UK 2 181933910 181933910 single base substitution G A intron_variant ESAD-UK 2 181935738 181935738 single base substitution C A intron_variant ESAD-UK 2 181939794 181939794 single base substitution C T intron_variant ESAD-UK 2 181941410 181941410 single base substitution G A downstream_gene_variant ESAD-UK 2 181944854 181944854 single base substitution A T downstream_gene_variant ESCA-CN 2 181925516 181925516 single base substitution C T downstream_gene_variant ESCA-CN 2 181925516 181925516 single base substitution C T exon_variant ESCA-CN 2 181925516 181925516 single base substitution C T intron_variant ESCA-CN 2 181925516 181925516 single base substitution C T missense_variant S168F 503C>T ESCA-CN 2 181925516 181925516 single base substitution C T upstream_gene_variant GBM-US 2 181846854 181846854 single base substitution G A exon_variant GBM-US 2 181846854 181846854 single base substitution G A missense_variant A29T 85G>A GBM-US 2 181846854 181846854 single base substitution G A upstream_gene_variant LAML-KR 2 181852255 181852255 single base substitution A G intron_variant LAML-KR 2 181886395 181886395 single base substitution T C intron_variant LICA-FR 2 181826992 181826992 single base substitution A G upstream_gene_variant LICA-FR 2 181839619 181839619 single base substitution G A intron_variant LICA-FR 2 181846881 181846881 single base substitution A G exon_variant LICA-FR 2 181846881 181846881 single base substitution A G missense_variant R38G 112A>G LICA-FR 2 181846881 181846881 single base substitution A G upstream_gene_variant LICA-FR 2 181857878 181857878 single base substitution C T downstream_gene_variant LICA-FR 2 181857878 181857878 single base substitution C T intron_variant LICA-FR 2 181860467 181860467 deletion of <=200bp T - intron_variant LICA-FR 2 181883326 181883326 deletion of <=200bp T - intron_variant LICA-FR 2 181890062 181890062 single base substitution A G intron_variant LICA-FR 2 181891487 181891487 single base substitution G A intron_variant LICA-FR 2 181894118 181894118 single base substitution A T intron_variant LICA-FR 2 181900915 181900916 deletion of <=200bp AA - intron_variant LINC-JP 2 181827294 181827294 single base substitution G T upstream_gene_variant LINC-JP 2 181827341 181827341 single base substitution T G upstream_gene_variant LINC-JP 2 181833443 181833443 single base substitution G C intron_variant LINC-JP 2 181845371 181845371 single base substitution G A 5_prime_UTR_variant LINC-JP 2 181845371 181845371 single base substitution G A intron_variant LINC-JP 2 181845371 181845371 single base substitution G A upstream_gene_variant LINC-JP 2 181846077 181846077 single base substitution C T 5_prime_UTR_variant LINC-JP 2 181846077 181846077 single base substitution C T intron_variant LINC-JP 2 181846077 181846077 single base substitution C T upstream_gene_variant LINC-JP 2 181848698 181848698 single base substitution G A intron_variant LINC-JP 2 181848698 181848698 single base substitution G A upstream_gene_variant LINC-JP 2 181848699 181848699 single base substitution G A intron_variant LINC-JP 2 181848699 181848699 single base substitution G A upstream_gene_variant LINC-JP 2 181861839 181861839 insertion of <=200bp - T intron_variant LINC-JP 2 181868529 181868529 single base substitution A G intron_variant LINC-JP 2 181919690 181919690 single base substitution A G intron_variant LINC-JP 2 181919690 181919690 single base substitution A G upstream_gene_variant LINC-JP 2 181922304 181922304 single base substitution A G intron_variant LINC-JP 2 181922304 181922304 single base substitution A G upstream_gene_variant LINC-JP 2 181923077 181923077 single base substitution A G downstream_gene_variant LINC-JP 2 181923077 181923077 single base substitution A G intron_variant LINC-JP 2 181923077 181923077 single base substitution A G upstream_gene_variant LINC-JP 2 181923418 181923418 single base substitution C G downstream_gene_variant LINC-JP 2 181923418 181923418 single base substitution C G intron_variant LINC-JP 2 181923418 181923418 single base substitution C G upstream_gene_variant LINC-JP 2 181925426 181925447 deletion of <=200bp TCAACAGTCAGGGAGTCATCTG - downstream_gene_variant LINC-JP 2 181925426 181925447 deletion of <=200bp TCAACAGTCAGGGAGTCATCTG - exon_variant LINC-JP 2 181925426 181925447 deletion of <=200bp TCAACAGTCAGGGAGTCATCTG - frameshift_variant INSQGVIC138 LINC-JP 2 181925426 181925447 deletion of <=200bp TCAACAGTCAGGGAGTCATCTG - intron_variant LINC-JP 2 181925426 181925447 deletion of <=200bp TCAACAGTCAGGGAGTCATCTG - upstream_gene_variant LINC-JP 2 181926779 181926779 single base substitution C A downstream_gene_variant LINC-JP 2 181926779 181926779 single base substitution C A intron_variant LINC-JP 2 181926779 181926779 single base substitution C A upstream_gene_variant LINC-JP 2 181934068 181934068 single base substitution A C intron_variant LINC-JP 2 181941727 181941727 single base substitution G A downstream_gene_variant LINC-JP 2 181941774 181941774 single base substitution A G downstream_gene_variant LIRI-JP 2 181827064 181827064 single base substitution A G upstream_gene_variant LIRI-JP 2 181828559 181828559 single base substitution G C upstream_gene_variant LIRI-JP 2 181829698 181829698 single base substitution G C upstream_gene_variant LIRI-JP 2 181830140 181830140 single base substitution T C upstream_gene_variant LIRI-JP 2 181831514 181831514 single base substitution A T upstream_gene_variant LIRI-JP 2 181831696 181831696 single base substitution T C upstream_gene_variant LIRI-JP 2 181833394 181833394 single base substitution T A intron_variant LIRI-JP 2 181836288 181836288 single base substitution A G intron_variant LIRI-JP 2 181840111 181840111 single base substitution T C intron_variant LIRI-JP 2 181840111 181840111 single base substitution T C upstream_gene_variant LIRI-JP 2 181842151 181842151 single base substitution G T intron_variant LIRI-JP 2 181842151 181842151 single base substitution G T upstream_gene_variant LIRI-JP 2 181846531 181846531 single base substitution G A intron_variant LIRI-JP 2 181846531 181846531 single base substitution G A upstream_gene_variant LIRI-JP 2 181847707 181847707 single base substitution G C intron_variant LIRI-JP 2 181847707 181847707 single base substitution G C upstream_gene_variant LIRI-JP 2 181848339 181848339 single base substitution T C intron_variant LIRI-JP 2 181848339 181848339 single base substitution T C upstream_gene_variant LIRI-JP 2 181848428 181848436 deletion of <=200bp TTTGTCTCA - intron_variant LIRI-JP 2 181848428 181848436 deletion of <=200bp TTTGTCTCA - upstream_gene_variant LIRI-JP 2 181849807 181849807 single base substitution A G intron_variant LIRI-JP 2 181850745 181850745 single base substitution G T intron_variant LIRI-JP 2 181854544 181854544 single base substitution A G intron_variant LIRI-JP 2 181854990 181854990 single base substitution A G downstream_gene_variant LIRI-JP 2 181854990 181854990 single base substitution A G intron_variant LIRI-JP 2 181855318 181855318 single base substitution T G downstream_gene_variant LIRI-JP 2 181855318 181855318 single base substitution T G intron_variant LIRI-JP 2 181855405 181855405 single base substitution T C downstream_gene_variant LIRI-JP 2 181855405 181855405 single base substitution T C intron_variant LIRI-JP 2 181855406 181855406 single base substitution A G downstream_gene_variant LIRI-JP 2 181855406 181855406 single base substitution A G intron_variant LIRI-JP 2 181855418 181855418 single base substitution T C downstream_gene_variant LIRI-JP 2 181855418 181855418 single base substitution T C intron_variant LIRI-JP 2 181855818 181855818 single base substitution G T downstream_gene_variant LIRI-JP 2 181855818 181855818 single base substitution G T intron_variant LIRI-JP 2 181856006 181856006 single base substitution G T downstream_gene_variant LIRI-JP 2 181856006 181856006 single base substitution G T intron_variant LIRI-JP 2 181857450 181857450 single base substitution G A downstream_gene_variant LIRI-JP 2 181857450 181857450 single base substitution G A intron_variant LIRI-JP 2 181859927 181859927 single base substitution C G intron_variant LIRI-JP 2 181861407 181861407 single base substitution C A intron_variant LIRI-JP 2 181861552 181861552 single base substitution A T intron_variant LIRI-JP 2 181862326 181862326 single base substitution G A intron_variant LIRI-JP 2 181863030 181863030 single base substitution A G intron_variant LIRI-JP 2 181866095 181866095 single base substitution C A intron_variant LIRI-JP 2 181866883 181866883 single base substitution C G intron_variant LIRI-JP 2 181866915 181866915 single base substitution T C intron_variant LIRI-JP 2 181866916 181866916 single base substitution T A intron_variant LIRI-JP 2 181868383 181868383 single base substitution A G intron_variant LIRI-JP 2 181871378 181871378 single base substitution A G intron_variant LIRI-JP 2 181872068 181872068 single base substitution A G intron_variant LIRI-JP 2 181874355 181874355 single base substitution A G intron_variant LIRI-JP 2 181876671 181876671 single base substitution A G intron_variant LIRI-JP 2 181876981 181876981 single base substitution A G intron_variant LIRI-JP 2 181877275 181877275 single base substitution T G intron_variant LIRI-JP 2 181878583 181878583 single base substitution G A intron_variant LIRI-JP 2 181880961 181880961 single base substitution T C intron_variant LIRI-JP 2 181881549 181881549 single base substitution G A intron_variant LIRI-JP 2 181885571 181885571 single base substitution A T intron_variant LIRI-JP 2 181885653 181885653 deletion of <=200bp G - intron_variant LIRI-JP 2 181887139 181887139 single base substitution A G intron_variant LIRI-JP 2 181887251 181887251 single base substitution A G intron_variant LIRI-JP 2 181888322 181888322 single base substitution A G intron_variant LIRI-JP 2 181889268 181889268 single base substitution A G intron_variant LIRI-JP 2 181895044 181895044 single base substitution A G intron_variant LIRI-JP 2 181895676 181895676 single base substitution G T intron_variant LIRI-JP 2 181895800 181895800 single base substitution C A intron_variant LIRI-JP 2 181896023 181896023 single base substitution A G intron_variant LIRI-JP 2 181896403 181896403 single base substitution T G intron_variant LIRI-JP 2 181897453 181897453 single base substitution C T intron_variant LIRI-JP 2 181898827 181898827 single base substitution A G intron_variant LIRI-JP 2 181899128 181899128 single base substitution A G intron_variant LIRI-JP 2 181899562 181899562 single base substitution T C intron_variant LIRI-JP 2 181899605 181899605 single base substitution T A intron_variant LIRI-JP 2 181900271 181900271 single base substitution A G intron_variant LIRI-JP 2 181901223 181901223 single base substitution C T intron_variant LIRI-JP 2 181902112 181902112 single base substitution T A intron_variant LIRI-JP 2 181902644 181902644 single base substitution A G intron_variant LIRI-JP 2 181903426 181903426 single base substitution A G intron_variant LIRI-JP 2 181904592 181904592 single base substitution A G intron_variant LIRI-JP 2 181904704 181904704 single base substitution A G intron_variant LIRI-JP 2 181905634 181905634 single base substitution A C intron_variant LIRI-JP 2 181906005 181906005 single base substitution A T intron_variant LIRI-JP 2 181906097 181906097 single base substitution A G intron_variant LIRI-JP 2 181906673 181906673 single base substitution A T intron_variant LIRI-JP 2 181907454 181907454 single base substitution A G intron_variant LIRI-JP 2 181911348 181911348 single base substitution A C intron_variant LIRI-JP 2 181911792 181911792 single base substitution A G intron_variant LIRI-JP 2 181912443 181912443 single base substitution C G intron_variant LIRI-JP 2 181913080 181913080 single base substitution A G intron_variant LIRI-JP 2 181915653 181915653 single base substitution G C intron_variant LIRI-JP 2 181916708 181916708 single base substitution A G intron_variant LIRI-JP 2 181916787 181916787 single base substitution A G intron_variant LIRI-JP 2 181917251 181917251 single base substitution T C intron_variant LIRI-JP 2 181917971 181917971 single base substitution T A intron_variant LIRI-JP 2 181917971 181917971 single base substitution T A upstream_gene_variant LIRI-JP 2 181918534 181918534 single base substitution A T intron_variant LIRI-JP 2 181918534 181918534 single base substitution A T upstream_gene_variant LIRI-JP 2 181918535 181918535 single base substitution G T intron_variant LIRI-JP 2 181918535 181918535 single base substitution G T upstream_gene_variant LIRI-JP 2 181920770 181920770 single base substitution C T intron_variant LIRI-JP 2 181920770 181920770 single base substitution C T upstream_gene_variant LIRI-JP 2 181921729 181921729 single base substitution T C intron_variant LIRI-JP 2 181921729 181921729 single base substitution T C upstream_gene_variant LIRI-JP 2 181923773 181923773 single base substitution T C downstream_gene_variant LIRI-JP 2 181923773 181923773 single base substitution T C intron_variant LIRI-JP 2 181923773 181923773 single base substitution T C upstream_gene_variant LIRI-JP 2 181924600 181924600 single base substitution A C downstream_gene_variant LIRI-JP 2 181924600 181924600 single base substitution A C intron_variant LIRI-JP 2 181924600 181924600 single base substitution A C upstream_gene_variant LIRI-JP 2 181925140 181925140 single base substitution G A downstream_gene_variant LIRI-JP 2 181925140 181925140 single base substitution G A intron_variant LIRI-JP 2 181925140 181925140 single base substitution G A upstream_gene_variant LIRI-JP 2 181927195 181927195 single base substitution A G downstream_gene_variant LIRI-JP 2 181927195 181927195 single base substitution A G intron_variant LIRI-JP 2 181927195 181927195 single base substitution A G upstream_gene_variant LIRI-JP 2 181928443 181928443 single base substitution C T downstream_gene_variant LIRI-JP 2 181928443 181928443 single base substitution C T intron_variant LIRI-JP 2 181928802 181928802 single base substitution T C downstream_gene_variant LIRI-JP 2 181928802 181928802 single base substitution T C intron_variant LIRI-JP 2 181928828 181928828 single base substitution T A downstream_gene_variant LIRI-JP 2 181928828 181928828 single base substitution T A intron_variant LIRI-JP 2 181928832 181928832 single base substitution T C downstream_gene_variant LIRI-JP 2 181928832 181928832 single base substitution T C intron_variant LIRI-JP 2 181930185 181930185 single base substitution C A downstream_gene_variant LIRI-JP 2 181930185 181930185 single base substitution C A intron_variant LIRI-JP 2 181931073 181931073 single base substitution A T downstream_gene_variant LIRI-JP 2 181931073 181931073 single base substitution A T intron_variant LIRI-JP 2 181931807 181931807 single base substitution C A downstream_gene_variant LIRI-JP 2 181931807 181931807 single base substitution C A intron_variant LIRI-JP 2 181934532 181934532 single base substitution G T intron_variant LIRI-JP 2 181936907 181936907 single base substitution T G intron_variant LIRI-JP 2 181937808 181937808 single base substitution A T intron_variant LIRI-JP 2 181939767 181939767 single base substitution C T intron_variant LIRI-JP 2 181940501 181940501 single base substitution A G intron_variant LIRI-JP 2 181940799 181940799 insertion of <=200bp - T intron_variant LIRI-JP 2 181942836 181942836 single base substitution A G downstream_gene_variant LIRI-JP 2 181946197 181946197 single base substitution G A downstream_gene_variant LUSC-KR 2 181827319 181827319 single base substitution G C upstream_gene_variant LUSC-KR 2 181829002 181829002 single base substitution G C upstream_gene_variant LUSC-KR 2 181829207 181829207 single base substitution C G upstream_gene_variant LUSC-KR 2 181829683 181829683 single base substitution G C upstream_gene_variant LUSC-KR 2 181829951 181829951 single base substitution C T upstream_gene_variant LUSC-KR 2 181831242 181831242 single base substitution C G upstream_gene_variant LUSC-KR 2 181838790 181838790 single base substitution C G intron_variant LUSC-KR 2 181839488 181839488 single base substitution G T intron_variant LUSC-KR 2 181840838 181840838 single base substitution C A intron_variant LUSC-KR 2 181840838 181840838 single base substitution C A upstream_gene_variant LUSC-KR 2 181840903 181840903 single base substitution G A intron_variant LUSC-KR 2 181840903 181840903 single base substitution G A upstream_gene_variant LUSC-KR 2 181842735 181842735 single base substitution G C intron_variant LUSC-KR 2 181842735 181842735 single base substitution G C upstream_gene_variant LUSC-KR 2 181842740 181842740 single base substitution A G intron_variant LUSC-KR 2 181842740 181842740 single base substitution A G upstream_gene_variant LUSC-KR 2 181849654 181849654 single base substitution G C intron_variant LUSC-KR 2 181850762 181850762 single base substitution C A intron_variant LUSC-KR 2 181852764 181852764 single base substitution C A intron_variant LUSC-KR 2 181856917 181856917 single base substitution C T downstream_gene_variant LUSC-KR 2 181856917 181856917 single base substitution C T intron_variant LUSC-KR 2 181858672 181858672 single base substitution G C downstream_gene_variant LUSC-KR 2 181858672 181858672 single base substitution G C intron_variant LUSC-KR 2 181880600 181880600 single base substitution T A intron_variant LUSC-KR 2 181880993 181880993 single base substitution G T intron_variant LUSC-KR 2 181883631 181883631 single base substitution A T intron_variant LUSC-KR 2 181889864 181889864 single base substitution G C intron_variant LUSC-KR 2 181891588 181891588 single base substitution G C intron_variant LUSC-KR 2 181892823 181892823 single base substitution G T intron_variant LUSC-KR 2 181894426 181894426 single base substitution A G intron_variant LUSC-KR 2 181896079 181896079 single base substitution G C intron_variant LUSC-KR 2 181898194 181898194 single base substitution G T intron_variant LUSC-KR 2 181900313 181900313 single base substitution A T intron_variant LUSC-KR 2 181901298 181901298 single base substitution A C intron_variant LUSC-KR 2 181902575 181902575 single base substitution G T intron_variant LUSC-KR 2 181909475 181909475 single base substitution G A intron_variant LUSC-KR 2 181909549 181909549 single base substitution G T intron_variant LUSC-KR 2 181911036 181911036 single base substitution T C intron_variant LUSC-KR 2 181914842 181914842 single base substitution A G intron_variant LUSC-KR 2 181916969 181916969 single base substitution C G intron_variant LUSC-KR 2 181917445 181917445 single base substitution C G intron_variant LUSC-KR 2 181917445 181917445 single base substitution C G upstream_gene_variant LUSC-KR 2 181919842 181919842 single base substitution G T intron_variant LUSC-KR 2 181919842 181919842 single base substitution G T upstream_gene_variant LUSC-KR 2 181919904 181919904 single base substitution T C intron_variant LUSC-KR 2 181919904 181919904 single base substitution T C upstream_gene_variant LUSC-KR 2 181923573 181923573 single base substitution A G downstream_gene_variant LUSC-KR 2 181923573 181923573 single base substitution A G intron_variant LUSC-KR 2 181923573 181923573 single base substitution A G upstream_gene_variant LUSC-KR 2 181927587 181927587 single base substitution G A downstream_gene_variant LUSC-KR 2 181927587 181927587 single base substitution G A exon_variant LUSC-KR 2 181927587 181927587 single base substitution G A intron_variant LUSC-KR 2 181927587 181927587 single base substitution G A missense_variant R199K 596G>A LUSC-KR 2 181927587 181927587 single base substitution G A upstream_gene_variant LUSC-KR 2 181931784 181931784 single base substitution A G downstream_gene_variant LUSC-KR 2 181931784 181931784 single base substitution A G intron_variant LUSC-KR 2 181932324 181932324 single base substitution A G downstream_gene_variant LUSC-KR 2 181932324 181932324 single base substitution A G intron_variant LUSC-KR 2 181934251 181934251 single base substitution T A intron_variant LUSC-KR 2 181940542 181940542 single base substitution G T intron_variant LUSC-KR 2 181940768 181940768 single base substitution G T intron_variant LUSC-US 2 181846838 181846838 single base substitution C A exon_variant LUSC-US 2 181846838 181846838 single base substitution C A missense_variant D23E 69C>A LUSC-US 2 181846838 181846838 single base substitution C A upstream_gene_variant LUSC-US 2 181927572 181927572 single base substitution A G 3_prime_UTR_variant LUSC-US 2 181927572 181927572 single base substitution A G downstream_gene_variant LUSC-US 2 181927572 181927572 single base substitution A G exon_variant LUSC-US 2 181927572 181927572 single base substitution A G intron_variant LUSC-US 2 181927572 181927572 single base substitution A G missense_variant H194R 581A>G LUSC-US 2 181927572 181927572 single base substitution A G upstream_gene_variant LUSC-US 2 181927582 181927582 single base substitution A T downstream_gene_variant LUSC-US 2 181927582 181927582 single base substitution A T exon_variant LUSC-US 2 181927582 181927582 single base substitution A T intron_variant LUSC-US 2 181927582 181927582 single base substitution A T synonymous_variant I197I 591A>T LUSC-US 2 181927582 181927582 single base substitution A T upstream_gene_variant MALY-DE 2 181827907 181827907 single base substitution G C upstream_gene_variant MALY-DE 2 181831629 181831629 single base substitution A C upstream_gene_variant MALY-DE 2 181837188 181837188 single base substitution A C intron_variant MALY-DE 2 181839444 181839444 single base substitution G A intron_variant MALY-DE 2 181840156 181840156 single base substitution C G intron_variant MALY-DE 2 181840156 181840156 single base substitution C G upstream_gene_variant MALY-DE 2 181841252 181841252 single base substitution A C intron_variant MALY-DE 2 181841252 181841252 single base substitution A C upstream_gene_variant MALY-DE 2 181843367 181843367 single base substitution G T intron_variant MALY-DE 2 181843367 181843367 single base substitution G T upstream_gene_variant MALY-DE 2 181844048 181844048 single base substitution A C intron_variant MALY-DE 2 181844048 181844048 single base substitution A C upstream_gene_variant MALY-DE 2 181846917 181846925 deletion of <=200bp AAACTCTCT - exon_variant MALY-DE 2 181846917 181846925 deletion of <=200bp AAACTCTCT - inframe_deletion KLS50 MALY-DE 2 181846917 181846925 deletion of <=200bp AAACTCTCT - upstream_gene_variant MALY-DE 2 181847651 181847651 single base substitution T A intron_variant MALY-DE 2 181847651 181847651 single base substitution T A upstream_gene_variant MALY-DE 2 181851811 181851811 single base substitution C A intron_variant MALY-DE 2 181868939 181868939 single base substitution A G intron_variant MALY-DE 2 181869337 181869337 single base substitution C T intron_variant MALY-DE 2 181872238 181872238 single base substitution T C intron_variant MALY-DE 2 181877653 181877653 single base substitution G A intron_variant MALY-DE 2 181878205 181878233 deletion of <=200bp TGTTGGCAAATGGCCCTAGTTTCTTGACT - intron_variant MALY-DE 2 181880978 181880978 single base substitution A T intron_variant MALY-DE 2 181886454 181886454 single base substitution G A intron_variant MALY-DE 2 181895640 181895640 single base substitution T A intron_variant MALY-DE 2 181909292 181909292 single base substitution G A intron_variant MALY-DE 2 181915058 181915058 single base substitution T G intron_variant MALY-DE 2 181929531 181929531 single base substitution A C downstream_gene_variant MALY-DE 2 181929531 181929531 single base substitution A C intron_variant MALY-DE 2 181936043 181936043 single base substitution G A intron_variant MELA-AU 2 181827038 181827038 single base substitution G T upstream_gene_variant MELA-AU 2 181827305 181827305 single base substitution G A upstream_gene_variant MELA-AU 2 181827341 181827341 single base substitution T G upstream_gene_variant MELA-AU 2 181827403 181827403 single base substitution C T upstream_gene_variant MELA-AU 2 181827461 181827461 single base substitution C T upstream_gene_variant MELA-AU 2 181827482 181827482 single base substitution G A upstream_gene_variant MELA-AU 2 181827620 181827620 single base substitution T A upstream_gene_variant MELA-AU 2 181828159 181828159 single base substitution G A upstream_gene_variant MELA-AU 2 181828176 181828176 single base substitution C T upstream_gene_variant MELA-AU 2 181828359 181828359 single base substitution C T upstream_gene_variant MELA-AU 2 181828663 181828663 deletion of <=200bp A - upstream_gene_variant MELA-AU 2 181828769 181828769 single base substitution G A upstream_gene_variant MELA-AU 2 181829032 181829032 single base substitution G A upstream_gene_variant MELA-AU 2 181829085 181829085 single base substitution C A upstream_gene_variant MELA-AU 2 181829214 181829214 single base substitution G A upstream_gene_variant MELA-AU 2 181829249 181829249 single base substitution C T upstream_gene_variant MELA-AU 2 181829562 181829562 single base substitution G A upstream_gene_variant MELA-AU 2 181829577 181829577 single base substitution C T upstream_gene_variant MELA-AU 2 181829644 181829644 single base substitution G A upstream_gene_variant MELA-AU 2 181829877 181829877 single base substitution C T upstream_gene_variant MELA-AU 2 181829966 181829966 single base substitution G A upstream_gene_variant MELA-AU 2 181829985 181829985 single base substitution G A upstream_gene_variant MELA-AU 2 181830112 181830112 single base substitution G A upstream_gene_variant MELA-AU 2 181830302 181830302 single base substitution G A upstream_gene_variant MELA-AU 2 181830417 181830417 single base substitution C T upstream_gene_variant MELA-AU 2 181830818 181830818 single base substitution A G upstream_gene_variant MELA-AU 2 181830822 181830822 single base substitution C A upstream_gene_variant MELA-AU 2 181830826 181830826 single base substitution G A upstream_gene_variant MELA-AU 2 181830953 181830953 single base substitution C T upstream_gene_variant MELA-AU 2 181830986 181830986 single base substitution G A upstream_gene_variant MELA-AU 2 181831196 181831196 single base substitution G A upstream_gene_variant MELA-AU 2 181831220 181831220 single base substitution C T upstream_gene_variant MELA-AU 2 181831438 181831438 single base substitution C T upstream_gene_variant MELA-AU 2 181832181 181832181 single base substitution G A intron_variant MELA-AU 2 181832316 181832316 single base substitution C T intron_variant MELA-AU 2 181832516 181832516 single base substitution C T intron_variant MELA-AU 2 181832921 181832921 single base substitution G A intron_variant MELA-AU 2 181832968 181832968 single base substitution C T intron_variant MELA-AU 2 181833159 181833159 single base substitution G A intron_variant MELA-AU 2 181833294 181833294 single base substitution G T intron_variant MELA-AU 2 181833365 181833365 single base substitution C T intron_variant MELA-AU 2 181833531 181833531 single base substitution C T intron_variant MELA-AU 2 181833576 181833576 single base substitution G A intron_variant MELA-AU 2 181834060 181834060 single base substitution T C intron_variant MELA-AU 2 181834220 181834220 single base substitution T A intron_variant MELA-AU 2 181834311 181834311 single base substitution C T intron_variant MELA-AU 2 181834380 181834380 single base substitution C T intron_variant MELA-AU 2 181835569 181835569 single base substitution C T intron_variant MELA-AU 2 181835576 181835576 single base substitution G A intron_variant MELA-AU 2 181835633 181835633 single base substitution C T intron_variant MELA-AU 2 181835795 181835795 single base substitution G A intron_variant MELA-AU 2 181835887 181835887 single base substitution C T intron_variant MELA-AU 2 181835918 181835918 single base substitution C T intron_variant MELA-AU 2 181835955 181835955 single base substitution G T intron_variant MELA-AU 2 181835975 181835975 single base substitution C T intron_variant MELA-AU 2 181836463 181836463 single base substitution C T intron_variant MELA-AU 2 181836811 181836811 single base substitution C T intron_variant MELA-AU 2 181836874 181836874 single base substitution G A intron_variant MELA-AU 2 181836880 181836880 single base substitution C T intron_variant MELA-AU 2 181836935 181836935 single base substitution C T intron_variant MELA-AU 2 181837069 181837069 single base substitution G C intron_variant MELA-AU 2 181837075 181837075 single base substitution C T intron_variant MELA-AU 2 181837288 181837288 single base substitution G A intron_variant MELA-AU 2 181837333 181837333 single base substitution G A intron_variant MELA-AU 2 181837859 181837859 single base substitution T C intron_variant MELA-AU 2 181838066 181838066 single base substitution A G intron_variant MELA-AU 2 181838233 181838233 single base substitution T A intron_variant MELA-AU 2 181838276 181838276 single base substitution C T intron_variant MELA-AU 2 181838383 181838383 single base substitution G A intron_variant MELA-AU 2 181838778 181838778 single base substitution C T intron_variant MELA-AU 2 181838787 181838787 single base substitution C T intron_variant MELA-AU 2 181838884 181838884 single base substitution C T intron_variant MELA-AU 2 181838965 181838965 single base substitution G A intron_variant MELA-AU 2 181839245 181839245 single base substitution A C intron_variant MELA-AU 2 181839394 181839394 single base substitution C T intron_variant MELA-AU 2 181839665 181839665 single base substitution G A intron_variant MELA-AU 2 181839700 181839700 single base substitution T C intron_variant MELA-AU 2 181840064 181840064 single base substitution T A intron_variant MELA-AU 2 181840086 181840086 single base substitution G A intron_variant MELA-AU 2 181840246 181840246 single base substitution T A intron_variant MELA-AU 2 181840246 181840246 single base substitution T A upstream_gene_variant MELA-AU 2 181840375 181840375 single base substitution C T intron_variant MELA-AU 2 181840375 181840375 single base substitution C T upstream_gene_variant MELA-AU 2 181840436 181840436 single base substitution G A intron_variant MELA-AU 2 181840436 181840436 single base substitution G A upstream_gene_variant MELA-AU 2 181840558 181840558 single base substitution G A intron_variant MELA-AU 2 181840558 181840558 single base substitution G A upstream_gene_variant MELA-AU 2 181840919 181840919 single base substitution A T intron_variant MELA-AU 2 181840919 181840919 single base substitution A T upstream_gene_variant MELA-AU 2 181841083 181841083 single base substitution C T intron_variant MELA-AU 2 181841083 181841083 single base substitution C T upstream_gene_variant MELA-AU 2 181841349 181841349 single base substitution G A intron_variant MELA-AU 2 181841349 181841349 single base substitution G A upstream_gene_variant MELA-AU 2 181841392 181841392 single base substitution C T intron_variant MELA-AU 2 181841392 181841392 single base substitution C T upstream_gene_variant MELA-AU 2 181841647 181841647 single base substitution T C intron_variant MELA-AU 2 181841647 181841647 single base substitution T C upstream_gene_variant MELA-AU 2 181841889 181841889 single base substitution T C intron_variant MELA-AU 2 181841889 181841889 single base substitution T C upstream_gene_variant MELA-AU 2 181841898 181841898 single base substitution A T intron_variant MELA-AU 2 181841898 181841898 single base substitution A T upstream_gene_variant MELA-AU 2 181842275 181842275 single base substitution G A intron_variant MELA-AU 2 181842275 181842275 single base substitution G A upstream_gene_variant MELA-AU 2 181842481 181842481 single base substitution G A intron_variant MELA-AU 2 181842481 181842481 single base substitution G A upstream_gene_variant MELA-AU 2 181843029 181843029 single base substitution G A intron_variant MELA-AU 2 181843029 181843029 single base substitution G A upstream_gene_variant MELA-AU 2 181843915 181843915 single base substitution C T intron_variant MELA-AU 2 181843915 181843915 single base substitution C T upstream_gene_variant MELA-AU 2 181844481 181844481 single base substitution G T intron_variant MELA-AU 2 181844481 181844481 single base substitution G T upstream_gene_variant MELA-AU 2 181846018 181846018 single base substitution G A 5_prime_UTR_variant MELA-AU 2 181846018 181846018 single base substitution G A intron_variant MELA-AU 2 181846018 181846018 single base substitution G A upstream_gene_variant MELA-AU 2 181846509 181846509 single base substitution G A intron_variant MELA-AU 2 181846509 181846509 single base substitution G A upstream_gene_variant MELA-AU 2 181846532 181846532 single base substitution G A intron_variant MELA-AU 2 181846532 181846532 single base substitution G A upstream_gene_variant MELA-AU 2 181846712 181846712 single base substitution T A intron_variant MELA-AU 2 181846712 181846712 single base substitution T A upstream_gene_variant MELA-AU 2 181849132 181849132 single base substitution C T intron_variant MELA-AU 2 181849725 181849725 single base substitution T A intron_variant MELA-AU 2 181849946 181849946 single base substitution C T intron_variant MELA-AU 2 181850770 181850770 single base substitution C T intron_variant MELA-AU 2 181850870 181850870 single base substitution C T intron_variant MELA-AU 2 181850952 181850952 single base substitution G A intron_variant MELA-AU 2 181851297 181851297 single base substitution G A intron_variant MELA-AU 2 181851913 181851913 single base substitution C T intron_variant MELA-AU 2 181851945 181851945 single base substitution C T intron_variant MELA-AU 2 181852658 181852658 single base substitution T G intron_variant MELA-AU 2 181852723 181852723 single base substitution C T intron_variant MELA-AU 2 181852979 181852979 single base substitution C G intron_variant MELA-AU 2 181853910 181853910 single base substitution T A intron_variant MELA-AU 2 181854178 181854179 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 2 181855886 181855886 single base substitution C T downstream_gene_variant MELA-AU 2 181855886 181855886 single base substitution C T intron_variant MELA-AU 2 181855887 181855887 single base substitution T C downstream_gene_variant MELA-AU 2 181855887 181855887 single base substitution T C intron_variant MELA-AU 2 181855910 181855910 single base substitution C T downstream_gene_variant MELA-AU 2 181855910 181855910 single base substitution C T intron_variant MELA-AU 2 181856637 181856637 single base substitution C T downstream_gene_variant MELA-AU 2 181856637 181856637 single base substitution C T intron_variant MELA-AU 2 181856724 181856724 deletion of <=200bp T - downstream_gene_variant MELA-AU 2 181856724 181856724 deletion of <=200bp T - intron_variant MELA-AU 2 181857863 181857864 multiple base substitution (>=2bp and <=200bp) GC AA downstream_gene_variant MELA-AU 2 181857863 181857864 multiple base substitution (>=2bp and <=200bp) GC AA intron_variant MELA-AU 2 181858065 181858065 single base substitution C T downstream_gene_variant MELA-AU 2 181858065 181858065 single base substitution C T intron_variant MELA-AU 2 181858391 181858391 single base substitution A G downstream_gene_variant MELA-AU 2 181858391 181858391 single base substitution A G intron_variant MELA-AU 2 181858468 181858468 single base substitution C T downstream_gene_variant MELA-AU 2 181858468 181858468 single base substitution C T intron_variant MELA-AU 2 181858525 181858525 single base substitution T C downstream_gene_variant MELA-AU 2 181858525 181858525 single base substitution T C intron_variant MELA-AU 2 181859060 181859060 single base substitution T C downstream_gene_variant MELA-AU 2 181859060 181859060 single base substitution T C intron_variant MELA-AU 2 181859129 181859129 single base substitution C T downstream_gene_variant MELA-AU 2 181859129 181859129 single base substitution C T intron_variant MELA-AU 2 181859165 181859165 single base substitution C T downstream_gene_variant MELA-AU 2 181859165 181859165 single base substitution C T intron_variant MELA-AU 2 181859412 181859412 single base substitution C T downstream_gene_variant MELA-AU 2 181859412 181859412 single base substitution C T intron_variant MELA-AU 2 181859741 181859741 single base substitution C T downstream_gene_variant MELA-AU 2 181859741 181859741 single base substitution C T intron_variant MELA-AU 2 181859898 181859898 single base substitution C T intron_variant MELA-AU 2 181860269 181860269 single base substitution C T intron_variant MELA-AU 2 181860460 181860460 single base substitution G A intron_variant MELA-AU 2 181860639 181860639 single base substitution T A intron_variant MELA-AU 2 181860744 181860744 single base substitution C A intron_variant MELA-AU 2 181861807 181861807 single base substitution G A intron_variant MELA-AU 2 181861889 181861889 single base substitution T C intron_variant MELA-AU 2 181861892 181861892 single base substitution C T intron_variant MELA-AU 2 181862533 181862533 single base substitution T G intron_variant MELA-AU 2 181864179 181864179 single base substitution C T intron_variant MELA-AU 2 181865316 181865316 single base substitution C T intron_variant MELA-AU 2 181865374 181865374 single base substitution C T intron_variant MELA-AU 2 181865475 181865475 single base substitution G A intron_variant MELA-AU 2 181866088 181866088 single base substitution C T intron_variant MELA-AU 2 181866095 181866095 single base substitution C T intron_variant MELA-AU 2 181866247 181866247 single base substitution G A intron_variant MELA-AU 2 181866626 181866626 single base substitution C T intron_variant MELA-AU 2 181867102 181867102 single base substitution G A intron_variant MELA-AU 2 181867158 181867158 single base substitution T G intron_variant MELA-AU 2 181867886 181867886 single base substitution C T intron_variant MELA-AU 2 181868190 181868190 single base substitution C T intron_variant MELA-AU 2 181869322 181869322 single base substitution C G intron_variant MELA-AU 2 181869356 181869357 multiple base substitution (>=2bp and <=200bp) TC AA intron_variant MELA-AU 2 181869989 181869989 single base substitution A G intron_variant MELA-AU 2 181870166 181870166 single base substitution C T intron_variant MELA-AU 2 181870968 181870968 single base substitution C T intron_variant MELA-AU 2 181871122 181871122 single base substitution C T intron_variant MELA-AU 2 181871802 181871802 single base substitution C T intron_variant MELA-AU 2 181871852 181871852 single base substitution C T intron_variant MELA-AU 2 181872143 181872143 single base substitution C T intron_variant MELA-AU 2 181872238 181872238 single base substitution T C intron_variant MELA-AU 2 181873414 181873414 single base substitution C A intron_variant MELA-AU 2 181875215 181875215 single base substitution G A intron_variant MELA-AU 2 181875303 181875303 single base substitution C T intron_variant MELA-AU 2 181875757 181875757 single base substitution C T intron_variant MELA-AU 2 181875968 181875968 single base substitution C T intron_variant MELA-AU 2 181876138 181876138 single base substitution C T intron_variant MELA-AU 2 181876185 181876185 single base substitution C T intron_variant MELA-AU 2 181876529 181876529 single base substitution C T intron_variant MELA-AU 2 181876794 181876794 single base substitution T C intron_variant MELA-AU 2 181876914 181876914 single base substitution C T intron_variant MELA-AU 2 181877346 181877346 single base substitution G T intron_variant MELA-AU 2 181877495 181877495 single base substitution C T intron_variant MELA-AU 2 181877587 181877587 single base substitution C T intron_variant MELA-AU 2 181877663 181877663 single base substitution A G intron_variant MELA-AU 2 181878729 181878729 single base substitution G A intron_variant MELA-AU 2 181878737 181878737 single base substitution G A intron_variant MELA-AU 2 181879153 181879153 single base substitution T C intron_variant MELA-AU 2 181879528 181879528 single base substitution G A intron_variant MELA-AU 2 181880478 181880478 single base substitution C T intron_variant MELA-AU 2 181881339 181881339 single base substitution C T intron_variant MELA-AU 2 181881727 181881727 single base substitution C T intron_variant MELA-AU 2 181881876 181881876 single base substitution C T intron_variant MELA-AU 2 181883281 181883281 single base substitution C T intron_variant MELA-AU 2 181883300 181883300 single base substitution C T intron_variant MELA-AU 2 181883700 181883700 single base substitution T A intron_variant MELA-AU 2 181883798 181883798 single base substitution C T intron_variant MELA-AU 2 181883886 181883886 single base substitution C T intron_variant MELA-AU 2 181884016 181884016 single base substitution C T intron_variant MELA-AU 2 181884025 181884025 single base substitution C T intron_variant MELA-AU 2 181884560 181884560 single base substitution T A intron_variant MELA-AU 2 181884728 181884728 single base substitution C T intron_variant MELA-AU 2 181884972 181884972 insertion of <=200bp - T intron_variant MELA-AU 2 181884975 181884975 single base substitution C T intron_variant MELA-AU 2 181885016 181885016 single base substitution C T intron_variant MELA-AU 2 181885100 181885101 multiple base substitution (>=2bp and <=200bp) AC CT intron_variant MELA-AU 2 181885290 181885291 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 181885499 181885499 single base substitution A G intron_variant MELA-AU 2 181885606 181885606 single base substitution G A intron_variant MELA-AU 2 181885677 181885677 single base substitution C T intron_variant MELA-AU 2 181885974 181885974 single base substitution C T intron_variant MELA-AU 2 181886155 181886155 single base substitution C T intron_variant MELA-AU 2 181888119 181888119 single base substitution C T intron_variant MELA-AU 2 181888221 181888221 single base substitution A T intron_variant MELA-AU 2 181888597 181888597 single base substitution C T intron_variant MELA-AU 2 181888864 181888864 single base substitution C T intron_variant MELA-AU 2 181889634 181889646 deletion of <=200bp TGTATTACTATAC - intron_variant MELA-AU 2 181891261 181891261 single base substitution C T intron_variant MELA-AU 2 181891312 181891312 single base substitution G A intron_variant MELA-AU 2 181892339 181892339 deletion of <=200bp T - intron_variant MELA-AU 2 181892996 181892996 single base substitution G A intron_variant MELA-AU 2 181893339 181893339 single base substitution A G intron_variant MELA-AU 2 181893529 181893529 single base substitution C T intron_variant MELA-AU 2 181893530 181893530 single base substitution T A intron_variant MELA-AU 2 181893778 181893778 single base substitution C T intron_variant MELA-AU 2 181894662 181894662 single base substitution C T intron_variant MELA-AU 2 181894848 181894848 single base substitution C T intron_variant MELA-AU 2 181894890 181894890 single base substitution T C intron_variant MELA-AU 2 181895458 181895458 single base substitution A T intron_variant MELA-AU 2 181895523 181895523 single base substitution G A intron_variant MELA-AU 2 181895642 181895642 single base substitution T G intron_variant MELA-AU 2 181895751 181895751 single base substitution A C intron_variant MELA-AU 2 181896007 181896007 single base substitution G A intron_variant MELA-AU 2 181896355 181896355 single base substitution C T intron_variant MELA-AU 2 181897232 181897232 single base substitution T C intron_variant MELA-AU 2 181897242 181897242 single base substitution C T intron_variant MELA-AU 2 181897326 181897326 single base substitution C T intron_variant MELA-AU 2 181897647 181897647 single base substitution C T intron_variant MELA-AU 2 181898165 181898165 single base substitution C T intron_variant MELA-AU 2 181900071 181900072 multiple base substitution (>=2bp and <=200bp) TT CC intron_variant MELA-AU 2 181900389 181900389 single base substitution C T intron_variant MELA-AU 2 181900743 181900743 single base substitution T A intron_variant MELA-AU 2 181901051 181901051 single base substitution C T intron_variant MELA-AU 2 181901654 181901654 single base substitution T C intron_variant MELA-AU 2 181902161 181902161 single base substitution C T intron_variant MELA-AU 2 181902309 181902309 single base substitution G A intron_variant MELA-AU 2 181902985 181902985 single base substitution C T intron_variant MELA-AU 2 181903140 181903140 single base substitution T A intron_variant MELA-AU 2 181903390 181903390 single base substitution G A intron_variant MELA-AU 2 181903409 181903409 single base substitution C T intron_variant MELA-AU 2 181904263 181904263 single base substitution C T intron_variant MELA-AU 2 181904933 181904933 single base substitution G A intron_variant MELA-AU 2 181905535 181905535 single base substitution C T intron_variant MELA-AU 2 181905929 181905929 single base substitution C T intron_variant MELA-AU 2 181906802 181906802 single base substitution T G intron_variant MELA-AU 2 181906821 181906821 single base substitution A T intron_variant MELA-AU 2 181906824 181906824 single base substitution G A intron_variant MELA-AU 2 181906827 181906827 single base substitution C T intron_variant MELA-AU 2 181908028 181908028 single base substitution C T intron_variant MELA-AU 2 181908273 181908273 single base substitution C T intron_variant MELA-AU 2 181908702 181908702 single base substitution C T intron_variant MELA-AU 2 181908798 181908798 single base substitution C G intron_variant MELA-AU 2 181909030 181909030 single base substitution A T intron_variant MELA-AU 2 181909253 181909253 single base substitution T A intron_variant MELA-AU 2 181909386 181909387 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 2 181909667 181909667 single base substitution C T intron_variant MELA-AU 2 181909670 181909670 single base substitution A G intron_variant MELA-AU 2 181910062 181910062 single base substitution C T intron_variant MELA-AU 2 181910210 181910210 single base substitution C T intron_variant MELA-AU 2 181910252 181910252 single base substitution G A intron_variant MELA-AU 2 181911340 181911340 single base substitution G A intron_variant MELA-AU 2 181911951 181911951 single base substitution C T intron_variant MELA-AU 2 181912376 181912376 single base substitution C T intron_variant MELA-AU 2 181912770 181912770 single base substitution C T intron_variant MELA-AU 2 181912901 181912901 single base substitution G A intron_variant MELA-AU 2 181913174 181913174 single base substitution A C intron_variant MELA-AU 2 181913184 181913184 single base substitution G A intron_variant MELA-AU 2 181915491 181915492 multiple base substitution (>=2bp and <=200bp) CG AT intron_variant MELA-AU 2 181915985 181915985 single base substitution C T intron_variant MELA-AU 2 181916033 181916033 single base substitution C T intron_variant MELA-AU 2 181916101 181916101 single base substitution T A intron_variant MELA-AU 2 181916723 181916723 single base substitution T C intron_variant MELA-AU 2 181917790 181917790 single base substitution C T intron_variant MELA-AU 2 181917790 181917790 single base substitution C T upstream_gene_variant MELA-AU 2 181919542 181919542 single base substitution G A intron_variant MELA-AU 2 181919542 181919542 single base substitution G A upstream_gene_variant MELA-AU 2 181919975 181919975 single base substitution T G intron_variant MELA-AU 2 181919975 181919975 single base substitution T G upstream_gene_variant MELA-AU 2 181920114 181920114 single base substitution G A intron_variant MELA-AU 2 181920114 181920114 single base substitution G A upstream_gene_variant MELA-AU 2 181920177 181920177 single base substitution C T intron_variant MELA-AU 2 181920177 181920177 single base substitution C T upstream_gene_variant MELA-AU 2 181920382 181920382 single base substitution T G intron_variant MELA-AU 2 181920382 181920382 single base substitution T G upstream_gene_variant MELA-AU 2 181920754 181920754 single base substitution G A intron_variant MELA-AU 2 181920754 181920754 single base substitution G A upstream_gene_variant MELA-AU 2 181920857 181920857 single base substitution C T intron_variant MELA-AU 2 181920857 181920857 single base substitution C T upstream_gene_variant MELA-AU 2 181921344 181921344 single base substitution C T intron_variant MELA-AU 2 181921344 181921344 single base substitution C T upstream_gene_variant MELA-AU 2 181921788 181921788 single base substitution T C intron_variant MELA-AU 2 181921788 181921788 single base substitution T C upstream_gene_variant MELA-AU 2 181922524 181922524 single base substitution C T exon_variant MELA-AU 2 181922524 181922524 single base substitution C T intron_variant MELA-AU 2 181922524 181922524 single base substitution C T missense_variant S117L 350C>T MELA-AU 2 181922604 181922604 single base substitution C T downstream_gene_variant MELA-AU 2 181922604 181922604 single base substitution C T intron_variant MELA-AU 2 181922683 181922683 single base substitution C T downstream_gene_variant MELA-AU 2 181922683 181922683 single base substitution C T intron_variant MELA-AU 2 181922683 181922683 single base substitution C T upstream_gene_variant MELA-AU 2 181922807 181922807 single base substitution T A downstream_gene_variant MELA-AU 2 181922807 181922807 single base substitution T A intron_variant MELA-AU 2 181922807 181922807 single base substitution T A upstream_gene_variant MELA-AU 2 181922842 181922842 single base substitution C T downstream_gene_variant MELA-AU 2 181922842 181922842 single base substitution C T intron_variant MELA-AU 2 181922842 181922842 single base substitution C T upstream_gene_variant MELA-AU 2 181922995 181922995 single base substitution A T downstream_gene_variant MELA-AU 2 181922995 181922995 single base substitution A T intron_variant MELA-AU 2 181922995 181922995 single base substitution A T upstream_gene_variant MELA-AU 2 181923518 181923518 single base substitution T C downstream_gene_variant MELA-AU 2 181923518 181923518 single base substitution T C intron_variant MELA-AU 2 181923518 181923518 single base substitution T C upstream_gene_variant MELA-AU 2 181923752 181923752 single base substitution C T downstream_gene_variant MELA-AU 2 181923752 181923752 single base substitution C T intron_variant MELA-AU 2 181923752 181923752 single base substitution C T upstream_gene_variant MELA-AU 2 181924043 181924043 single base substitution C T downstream_gene_variant MELA-AU 2 181924043 181924043 single base substitution C T intron_variant MELA-AU 2 181924043 181924043 single base substitution C T upstream_gene_variant MELA-AU 2 181924383 181924383 single base substitution C T downstream_gene_variant MELA-AU 2 181924383 181924383 single base substitution C T intron_variant MELA-AU 2 181924383 181924383 single base substitution C T upstream_gene_variant MELA-AU 2 181924853 181924853 single base substitution G A downstream_gene_variant MELA-AU 2 181924853 181924853 single base substitution G A intron_variant MELA-AU 2 181924853 181924853 single base substitution G A upstream_gene_variant MELA-AU 2 181926208 181926208 single base substitution C T downstream_gene_variant MELA-AU 2 181926208 181926208 single base substitution C T intron_variant MELA-AU 2 181926208 181926208 single base substitution C T upstream_gene_variant MELA-AU 2 181926522 181926522 single base substitution G A downstream_gene_variant MELA-AU 2 181926522 181926522 single base substitution G A intron_variant MELA-AU 2 181926522 181926522 single base substitution G A upstream_gene_variant MELA-AU 2 181926845 181926845 single base substitution A G downstream_gene_variant MELA-AU 2 181926845 181926845 single base substitution A G intron_variant MELA-AU 2 181926845 181926845 single base substitution A G upstream_gene_variant MELA-AU 2 181927761 181927762 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 2 181927761 181927762 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 181927761 181927762 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 2 181927761 181927762 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 181928047 181928047 single base substitution C G 3_prime_UTR_variant MELA-AU 2 181928047 181928047 single base substitution C G downstream_gene_variant MELA-AU 2 181928047 181928047 single base substitution C G intron_variant MELA-AU 2 181928319 181928319 single base substitution C T downstream_gene_variant MELA-AU 2 181928319 181928319 single base substitution C T intron_variant MELA-AU 2 181929046 181929046 single base substitution T C downstream_gene_variant MELA-AU 2 181929046 181929046 single base substitution T C intron_variant MELA-AU 2 181929422 181929422 single base substitution G A downstream_gene_variant MELA-AU 2 181929422 181929422 single base substitution G A intron_variant MELA-AU 2 181929520 181929520 single base substitution G A downstream_gene_variant MELA-AU 2 181929520 181929520 single base substitution G A intron_variant MELA-AU 2 181929525 181929526 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 181929525 181929526 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 181929684 181929684 single base substitution C T downstream_gene_variant MELA-AU 2 181929684 181929684 single base substitution C T intron_variant MELA-AU 2 181929997 181929998 multiple base substitution (>=2bp and <=200bp) AC TT downstream_gene_variant MELA-AU 2 181929997 181929998 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 2 181930082 181930082 single base substitution C T downstream_gene_variant MELA-AU 2 181930082 181930082 single base substitution C T intron_variant MELA-AU 2 181931808 181931808 single base substitution C T downstream_gene_variant MELA-AU 2 181931808 181931808 single base substitution C T intron_variant MELA-AU 2 181932013 181932013 single base substitution C T downstream_gene_variant MELA-AU 2 181932013 181932013 single base substitution C T intron_variant MELA-AU 2 181932128 181932128 single base substitution C T downstream_gene_variant MELA-AU 2 181932128 181932128 single base substitution C T intron_variant MELA-AU 2 181932437 181932437 single base substitution C T downstream_gene_variant MELA-AU 2 181932437 181932437 single base substitution C T intron_variant MELA-AU 2 181932557 181932557 single base substitution G T downstream_gene_variant MELA-AU 2 181932557 181932557 single base substitution G T intron_variant MELA-AU 2 181932626 181932626 single base substitution C T downstream_gene_variant MELA-AU 2 181932626 181932626 single base substitution C T intron_variant MELA-AU 2 181932886 181932886 single base substitution C T downstream_gene_variant MELA-AU 2 181932886 181932886 single base substitution C T intron_variant MELA-AU 2 181932990 181932990 single base substitution C T downstream_gene_variant MELA-AU 2 181932990 181932990 single base substitution C T intron_variant MELA-AU 2 181933199 181933199 single base substitution T C intron_variant MELA-AU 2 181933825 181933825 single base substitution C T intron_variant MELA-AU 2 181933986 181933986 single base substitution A G intron_variant MELA-AU 2 181934226 181934226 single base substitution G A intron_variant MELA-AU 2 181934389 181934389 single base substitution C T intron_variant MELA-AU 2 181934570 181934570 single base substitution G A intron_variant MELA-AU 2 181934692 181934692 single base substitution T C intron_variant MELA-AU 2 181935460 181935460 single base substitution A G intron_variant MELA-AU 2 181935587 181935587 single base substitution T G intron_variant MELA-AU 2 181936031 181936031 single base substitution C T intron_variant MELA-AU 2 181936354 181936354 single base substitution C T intron_variant MELA-AU 2 181936396 181936396 single base substitution C T intron_variant MELA-AU 2 181936455 181936455 single base substitution C T intron_variant MELA-AU 2 181937419 181937419 single base substitution C T intron_variant MELA-AU 2 181937577 181937577 single base substitution T C intron_variant MELA-AU 2 181938260 181938260 single base substitution C T intron_variant MELA-AU 2 181938580 181938580 single base substitution T C intron_variant MELA-AU 2 181939407 181939407 single base substitution T A intron_variant MELA-AU 2 181939511 181939511 single base substitution G A intron_variant MELA-AU 2 181939539 181939539 single base substitution G A intron_variant MELA-AU 2 181939911 181939911 single base substitution G A intron_variant MELA-AU 2 181940679 181940679 single base substitution C T intron_variant MELA-AU 2 181940756 181940756 single base substitution A G intron_variant MELA-AU 2 181941346 181941346 single base substitution T C downstream_gene_variant MELA-AU 2 181941627 181941627 single base substitution C T downstream_gene_variant MELA-AU 2 181941682 181941682 single base substitution C T downstream_gene_variant MELA-AU 2 181942008 181942008 single base substitution T C downstream_gene_variant MELA-AU 2 181942043 181942043 single base substitution C T downstream_gene_variant MELA-AU 2 181943058 181943058 single base substitution G C downstream_gene_variant MELA-AU 2 181943538 181943538 single base substitution C T downstream_gene_variant MELA-AU 2 181943771 181943771 single base substitution C T downstream_gene_variant MELA-AU 2 181943894 181943894 single base substitution C T downstream_gene_variant MELA-AU 2 181943976 181943976 single base substitution C T downstream_gene_variant MELA-AU 2 181944037 181944037 single base substitution C T downstream_gene_variant MELA-AU 2 181944138 181944138 single base substitution C T downstream_gene_variant MELA-AU 2 181944558 181944558 single base substitution G A downstream_gene_variant MELA-AU 2 181944630 181944630 single base substitution G A downstream_gene_variant MELA-AU 2 181944724 181944724 single base substitution G A downstream_gene_variant MELA-AU 2 181945032 181945032 single base substitution C T downstream_gene_variant MELA-AU 2 181945211 181945211 single base substitution C T downstream_gene_variant MELA-AU 2 181945605 181945605 single base substitution C T downstream_gene_variant MELA-AU 2 181945759 181945759 single base substitution C T downstream_gene_variant MELA-AU 2 181945792 181945792 single base substitution C T downstream_gene_variant MELA-AU 2 181945871 181945871 single base substitution C T downstream_gene_variant MELA-AU 2 181945968 181945968 single base substitution G A downstream_gene_variant ORCA-IN 2 181841186 181841186 single base substitution A C intron_variant ORCA-IN 2 181841186 181841186 single base substitution A C upstream_gene_variant ORCA-IN 2 181877585 181877585 single base substitution C T intron_variant ORCA-IN 2 181905436 181905436 single base substitution G A intron_variant OV-AU 2 181827592 181827592 single base substitution A G upstream_gene_variant OV-AU 2 181836721 181836721 single base substitution C A intron_variant OV-AU 2 181842390 181842390 single base substitution C G intron_variant OV-AU 2 181842390 181842390 single base substitution C G upstream_gene_variant OV-AU 2 181848056 181848056 single base substitution G A intron_variant OV-AU 2 181848056 181848056 single base substitution G A upstream_gene_variant OV-AU 2 181848566 181848566 single base substitution A G intron_variant OV-AU 2 181848566 181848566 single base substitution A G upstream_gene_variant OV-AU 2 181852067 181852067 single base substitution G T intron_variant OV-AU 2 181852067 181852067 single base substitution G T missense_variant G83V 248G>T OV-AU 2 181855888 181855888 single base substitution T C downstream_gene_variant OV-AU 2 181855888 181855888 single base substitution T C intron_variant OV-AU 2 181864989 181864989 single base substitution G T intron_variant OV-AU 2 181867983 181867983 single base substitution T G intron_variant OV-AU 2 181885063 181885063 single base substitution C G intron_variant OV-AU 2 181889556 181889556 single base substitution G A intron_variant OV-AU 2 181892510 181892510 single base substitution A G intron_variant OV-AU 2 181893110 181893110 single base substitution T C intron_variant OV-AU 2 181899003 181899003 single base substitution C G intron_variant OV-AU 2 181915401 181915401 single base substitution G C intron_variant OV-AU 2 181917575 181917575 single base substitution A G intron_variant OV-AU 2 181917575 181917575 single base substitution A G upstream_gene_variant OV-AU 2 181919196 181919196 single base substitution T G intron_variant OV-AU 2 181919196 181919196 single base substitution T G upstream_gene_variant OV-AU 2 181923705 181923705 single base substitution C G downstream_gene_variant OV-AU 2 181923705 181923705 single base substitution C G intron_variant OV-AU 2 181923705 181923705 single base substitution C G upstream_gene_variant OV-AU 2 181927923 181927923 single base substitution G T 3_prime_UTR_variant OV-AU 2 181927923 181927923 single base substitution G T downstream_gene_variant OV-AU 2 181927923 181927923 single base substitution G T intron_variant OV-AU 2 181931137 181931137 single base substitution C T downstream_gene_variant OV-AU 2 181931137 181931137 single base substitution C T intron_variant OV-AU 2 181935294 181935294 single base substitution G A intron_variant OV-AU 2 181942924 181942924 single base substitution C G downstream_gene_variant OV-US 2 181846835 181846835 single base substitution G T exon_variant OV-US 2 181846835 181846835 single base substitution G T synonymous_variant A22A 66G>T OV-US 2 181846835 181846835 single base substitution G T upstream_gene_variant PACA-AU 2 181828630 181828630 single base substitution T C upstream_gene_variant PACA-AU 2 181834529 181834529 single base substitution C A intron_variant PACA-AU 2 181835365 181835365 single base substitution G A intron_variant PACA-AU 2 181836472 181836472 single base substitution T A intron_variant PACA-AU 2 181838826 181838826 single base substitution G T intron_variant PACA-AU 2 181841763 181841763 single base substitution G A intron_variant PACA-AU 2 181841763 181841763 single base substitution G A upstream_gene_variant PACA-AU 2 181843438 181843438 single base substitution T C intron_variant PACA-AU 2 181843438 181843438 single base substitution T C upstream_gene_variant PACA-AU 2 181848690 181848690 single base substitution G A intron_variant PACA-AU 2 181848690 181848690 single base substitution G A upstream_gene_variant PACA-AU 2 181855445 181855445 single base substitution A G downstream_gene_variant PACA-AU 2 181855445 181855445 single base substitution A G intron_variant PACA-AU 2 181863504 181863504 single base substitution C T intron_variant PACA-AU 2 181865374 181865374 single base substitution C T intron_variant PACA-AU 2 181867666 181867666 single base substitution G C intron_variant PACA-AU 2 181870486 181870486 single base substitution T G intron_variant PACA-AU 2 181870488 181870488 single base substitution T A intron_variant PACA-AU 2 181885148 181885148 single base substitution T C intron_variant PACA-AU 2 181893064 181893064 insertion of <=200bp - T intron_variant PACA-AU 2 181895575 181895575 single base substitution C T intron_variant PACA-AU 2 181899520 181899520 single base substitution C G intron_variant PACA-AU 2 181900426 181900426 single base substitution T A intron_variant PACA-AU 2 181901217 181901217 single base substitution G A intron_variant PACA-AU 2 181902271 181902271 single base substitution A T intron_variant PACA-AU 2 181912683 181912683 insertion of <=200bp - C intron_variant PACA-AU 2 181914105 181914105 single base substitution G T intron_variant PACA-AU 2 181915883 181915884 deletion of <=200bp TT - intron_variant PACA-AU 2 181916154 181916154 single base substitution T C intron_variant PACA-AU 2 181917697 181917697 single base substitution C T intron_variant PACA-AU 2 181917697 181917697 single base substitution C T upstream_gene_variant PACA-AU 2 181929011 181929011 single base substitution A G downstream_gene_variant PACA-AU 2 181929011 181929011 single base substitution A G intron_variant PACA-AU 2 181930140 181930149 deletion of <=200bp ATAGCTTCTG - downstream_gene_variant PACA-AU 2 181930140 181930149 deletion of <=200bp ATAGCTTCTG - intron_variant PACA-AU 2 181931418 181931418 single base substitution A G downstream_gene_variant PACA-AU 2 181931418 181931418 single base substitution A G intron_variant PACA-AU 2 181931848 181931848 single base substitution C T downstream_gene_variant PACA-AU 2 181931848 181931848 single base substitution C T intron_variant PACA-AU 2 181933970 181933970 single base substitution A T intron_variant PACA-AU 2 181945026 181945026 single base substitution G T downstream_gene_variant PACA-AU 2 181945507 181945507 single base substitution C T downstream_gene_variant PACA-CA 2 181828388 181828388 single base substitution G A upstream_gene_variant PACA-CA 2 181829076 181829076 single base substitution T C upstream_gene_variant PACA-CA 2 181829349 181829349 single base substitution T G upstream_gene_variant PACA-CA 2 181832516 181832516 single base substitution C T intron_variant PACA-CA 2 181845164 181845164 single base substitution G C 5_prime_UTR_variant PACA-CA 2 181845164 181845164 single base substitution G C intron_variant PACA-CA 2 181845164 181845164 single base substitution G C upstream_gene_variant PACA-CA 2 181850904 181850904 single base substitution C T intron_variant PACA-CA 2 181853028 181853028 single base substitution A T intron_variant PACA-CA 2 181853903 181853903 single base substitution C T intron_variant PACA-CA 2 181855215 181855215 single base substitution G T downstream_gene_variant PACA-CA 2 181855215 181855215 single base substitution G T intron_variant PACA-CA 2 181857245 181857245 single base substitution A T downstream_gene_variant PACA-CA 2 181857245 181857245 single base substitution A T intron_variant PACA-CA 2 181859091 181859091 single base substitution T C downstream_gene_variant PACA-CA 2 181859091 181859091 single base substitution T C intron_variant PACA-CA 2 181860119 181860119 single base substitution T A intron_variant PACA-CA 2 181861315 181861315 single base substitution T C intron_variant PACA-CA 2 181861696 181861696 single base substitution C T intron_variant PACA-CA 2 181864661 181864661 deletion of <=200bp A - intron_variant PACA-CA 2 181870030 181870030 single base substitution A T intron_variant PACA-CA 2 181870370 181870370 single base substitution A T intron_variant PACA-CA 2 181871026 181871026 single base substitution A G intron_variant PACA-CA 2 181871279 181871279 single base substitution G T intron_variant PACA-CA 2 181876028 181876028 single base substitution C A intron_variant PACA-CA 2 181877234 181877234 single base substitution G T intron_variant PACA-CA 2 181877723 181877723 insertion of <=200bp - T intron_variant PACA-CA 2 181883697 181883697 single base substitution A T intron_variant PACA-CA 2 181883796 181883796 single base substitution T G intron_variant PACA-CA 2 181883887 181883887 single base substitution G A intron_variant PACA-CA 2 181884799 181884799 single base substitution T C intron_variant PACA-CA 2 181885359 181885359 single base substitution T C intron_variant PACA-CA 2 181886960 181886979 deletion of <=200bp TTTTGGTTAGACTCTTGAAA - intron_variant PACA-CA 2 181889791 181889791 single base substitution A C intron_variant PACA-CA 2 181891231 181891231 single base substitution T A intron_variant PACA-CA 2 181894870 181894870 single base substitution C T intron_variant PACA-CA 2 181897938 181897938 single base substitution C T intron_variant PACA-CA 2 181899403 181899403 insertion of <=200bp - A intron_variant PACA-CA 2 181899681 181899681 single base substitution A C intron_variant PACA-CA 2 181906494 181906494 single base substitution T G intron_variant PACA-CA 2 181907803 181907803 single base substitution G A intron_variant PACA-CA 2 181916111 181916111 single base substitution T A intron_variant PACA-CA 2 181919755 181919755 single base substitution T C intron_variant PACA-CA 2 181919755 181919755 single base substitution T C upstream_gene_variant PACA-CA 2 181921632 181921632 single base substitution C T intron_variant PACA-CA 2 181921632 181921632 single base substitution C T upstream_gene_variant PACA-CA 2 181923161 181923161 single base substitution G A downstream_gene_variant PACA-CA 2 181923161 181923161 single base substitution G A intron_variant PACA-CA 2 181923161 181923161 single base substitution G A upstream_gene_variant PACA-CA 2 181924991 181924991 single base substitution A T downstream_gene_variant PACA-CA 2 181924991 181924991 single base substitution A T intron_variant PACA-CA 2 181924991 181924991 single base substitution A T upstream_gene_variant PACA-CA 2 181928311 181928311 insertion of <=200bp - T downstream_gene_variant PACA-CA 2 181928311 181928311 insertion of <=200bp - T intron_variant PACA-CA 2 181932289 181932289 single base substitution T C downstream_gene_variant PACA-CA 2 181932289 181932289 single base substitution T C intron_variant PACA-CA 2 181935426 181935426 single base substitution G T intron_variant PACA-CA 2 181937169 181937169 single base substitution A G intron_variant PACA-CA 2 181943016 181943016 single base substitution C T downstream_gene_variant PACA-CA 2 181943538 181943538 single base substitution C A downstream_gene_variant PACA-CA 2 181944596 181944596 single base substitution G C downstream_gene_variant PACA-CA 2 181945256 181945256 single base substitution T A downstream_gene_variant PACA-CA 2 181945695 181945695 single base substitution G A downstream_gene_variant PAEN-AU 2 181888391 181888391 single base substitution C T intron_variant PAEN-AU 2 181910774 181910774 single base substitution T C intron_variant PAEN-IT 2 181902554 181902554 single base substitution G C intron_variant PAEN-IT 2 181929537 181929537 single base substitution G A downstream_gene_variant PAEN-IT 2 181929537 181929537 single base substitution G A intron_variant PBCA-DE 2 181829106 181829106 single base substitution G T upstream_gene_variant PBCA-DE 2 181834097 181834097 single base substitution G A intron_variant PBCA-DE 2 181839432 181839432 single base substitution T C intron_variant PBCA-DE 2 181839781 181839781 single base substitution A C intron_variant PBCA-DE 2 181839958 181839958 single base substitution G A intron_variant PBCA-DE 2 181840086 181840086 single base substitution G A intron_variant PBCA-DE 2 181848501 181848501 single base substitution C A intron_variant PBCA-DE 2 181848501 181848501 single base substitution C A upstream_gene_variant PBCA-DE 2 181853378 181853378 single base substitution C T intron_variant PBCA-DE 2 181854194 181854198 deletion of <=200bp TCATA - intron_variant PBCA-DE 2 181859148 181859150 deletion of <=200bp AAT - downstream_gene_variant PBCA-DE 2 181859148 181859150 deletion of <=200bp AAT - intron_variant PBCA-DE 2 181860187 181860187 single base substitution C T intron_variant PBCA-DE 2 181864329 181864329 insertion of <=200bp - T intron_variant PBCA-DE 2 181878154 181878154 single base substitution G A intron_variant PBCA-DE 2 181883098 181883099 deletion of <=200bp TA - intron_variant PBCA-DE 2 181884489 181884489 single base substitution A G intron_variant PBCA-DE 2 181886329 181886329 single base substitution T C intron_variant PBCA-DE 2 181887777 181887777 single base substitution A C intron_variant PBCA-DE 2 181894226 181894226 single base substitution A G intron_variant PBCA-DE 2 181904153 181904153 single base substitution A G intron_variant PBCA-DE 2 181918080 181918080 single base substitution C T intron_variant PBCA-DE 2 181918080 181918080 single base substitution C T upstream_gene_variant PBCA-DE 2 181918517 181918517 single base substitution C T intron_variant PBCA-DE 2 181918517 181918517 single base substitution C T upstream_gene_variant PBCA-DE 2 181931106 181931106 single base substitution A C downstream_gene_variant PBCA-DE 2 181931106 181931106 single base substitution A C intron_variant PBCA-DE 2 181933987 181933988 deletion of <=200bp TG - intron_variant PBCA-DE 2 181945278 181945279 deletion of <=200bp AT - downstream_gene_variant PRAD-CA 2 181827305 181827305 single base substitution G A upstream_gene_variant PRAD-CA 2 181829106 181829106 single base substitution G T upstream_gene_variant PRAD-CA 2 181848284 181848284 single base substitution A G intron_variant PRAD-CA 2 181848284 181848284 single base substitution A G upstream_gene_variant PRAD-CA 2 181850326 181850326 single base substitution G T intron_variant PRAD-CA 2 181852322 181852322 single base substitution A C intron_variant PRAD-CA 2 181886395 181886395 single base substitution T C intron_variant PRAD-CA 2 181911489 181911489 single base substitution T G intron_variant PRAD-CA 2 181920222 181920222 single base substitution T C intron_variant PRAD-CA 2 181920222 181920222 single base substitution T C upstream_gene_variant PRAD-CA 2 181934056 181934056 single base substitution T C intron_variant PRAD-UK 2 181831119 181831119 single base substitution C T upstream_gene_variant PRAD-UK 2 181837778 181837778 insertion of <=200bp - A intron_variant PRAD-UK 2 181838491 181838491 insertion of <=200bp - T intron_variant PRAD-UK 2 181850696 181850696 deletion of <=200bp A - intron_variant PRAD-UK 2 181862076 181862076 single base substitution A G intron_variant PRAD-UK 2 181862456 181862456 single base substitution T G intron_variant PRAD-UK 2 181865628 181865628 single base substitution G T intron_variant PRAD-UK 2 181866720 181866720 single base substitution C T intron_variant PRAD-UK 2 181872491 181872491 single base substitution G C intron_variant PRAD-UK 2 181880156 181880156 single base substitution A G intron_variant PRAD-UK 2 181886066 181886066 single base substitution T G intron_variant PRAD-UK 2 181890820 181890820 single base substitution G A intron_variant PRAD-UK 2 181893288 181893288 single base substitution G T intron_variant PRAD-UK 2 181902830 181902830 single base substitution T G intron_variant PRAD-UK 2 181919840 181919871 deletion of <=200bp CTGTTGGGAATGAGTTCAAGTAACAACAGAGG - intron_variant PRAD-UK 2 181919840 181919871 deletion of <=200bp CTGTTGGGAATGAGTTCAAGTAACAACAGAGG - upstream_gene_variant PRAD-UK 2 181930031 181930031 single base substitution G T downstream_gene_variant PRAD-UK 2 181930031 181930031 single base substitution G T intron_variant PRAD-UK 2 181933822 181933822 single base substitution A G intron_variant RECA-EU 2 181827294 181827294 single base substitution G T upstream_gene_variant RECA-EU 2 181827319 181827319 single base substitution G C upstream_gene_variant RECA-EU 2 181827321 181827321 single base substitution G C upstream_gene_variant RECA-EU 2 181827323 181827323 single base substitution G C upstream_gene_variant RECA-EU 2 181827327 181827327 single base substitution G C upstream_gene_variant RECA-EU 2 181828164 181828164 single base substitution G A upstream_gene_variant RECA-EU 2 181843209 181843209 single base substitution T G intron_variant RECA-EU 2 181843209 181843209 single base substitution T G upstream_gene_variant RECA-EU 2 181846567 181846567 single base substitution T A intron_variant RECA-EU 2 181846567 181846567 single base substitution T A upstream_gene_variant RECA-EU 2 181851281 181851281 single base substitution A C intron_variant RECA-EU 2 181851724 181851724 single base substitution G A intron_variant RECA-EU 2 181852542 181852542 single base substitution T C intron_variant RECA-EU 2 181857294 181857294 single base substitution T C downstream_gene_variant RECA-EU 2 181857294 181857294 single base substitution T C intron_variant RECA-EU 2 181870311 181870311 single base substitution C G intron_variant RECA-EU 2 181870455 181870455 single base substitution A T intron_variant RECA-EU 2 181872098 181872098 single base substitution A C intron_variant RECA-EU 2 181885140 181885140 single base substitution G A intron_variant RECA-EU 2 181887679 181887679 single base substitution C G intron_variant RECA-EU 2 181887816 181887816 single base substitution A G intron_variant RECA-EU 2 181888391 181888391 single base substitution C T intron_variant RECA-EU 2 181891386 181891386 single base substitution T C intron_variant RECA-EU 2 181897502 181897502 single base substitution G T intron_variant RECA-EU 2 181913398 181913398 single base substitution A G intron_variant RECA-EU 2 181913692 181913692 single base substitution A G intron_variant RECA-EU 2 181915727 181915727 single base substitution A T intron_variant RECA-EU 2 181919336 181919336 single base substitution A G intron_variant RECA-EU 2 181919336 181919336 single base substitution A G upstream_gene_variant RECA-EU 2 181925488 181925488 single base substitution A G downstream_gene_variant RECA-EU 2 181925488 181925488 single base substitution A G exon_variant RECA-EU 2 181925488 181925488 single base substitution A G intron_variant RECA-EU 2 181925488 181925488 single base substitution A G missense_variant I159V 475A>G RECA-EU 2 181925488 181925488 single base substitution A G upstream_gene_variant RECA-EU 2 181936368 181936368 single base substitution T C intron_variant SKCA-BR 2 181827294 181827294 insertion of <=200bp - GGTGTGTGTATGTGTGTGTGTGT upstream_gene_variant SKCA-BR 2 181827296 181827296 single base substitution T G upstream_gene_variant SKCA-BR 2 181827319 181827319 single base substitution G C upstream_gene_variant SKCA-BR 2 181827814 181827814 single base substitution G A upstream_gene_variant SKCA-BR 2 181829106 181829106 insertion of <=200bp - GTTTCAATAACCTAATTATTAGGTTATT upstream_gene_variant SKCA-BR 2 181829106 181829106 single base substitution G T upstream_gene_variant SKCA-BR 2 181831573 181831573 single base substitution C T upstream_gene_variant SKCA-BR 2 181831668 181831668 single base substitution T C upstream_gene_variant SKCA-BR 2 181832855 181832855 single base substitution T A intron_variant SKCA-BR 2 181832900 181832900 single base substitution G A intron_variant SKCA-BR 2 181832934 181832934 single base substitution G A intron_variant SKCA-BR 2 181832968 181832968 single base substitution C T intron_variant SKCA-BR 2 181833232 181833232 single base substitution A G intron_variant SKCA-BR 2 181834988 181834988 single base substitution T A intron_variant SKCA-BR 2 181842199 181842199 single base substitution G A intron_variant SKCA-BR 2 181842199 181842199 single base substitution G A upstream_gene_variant SKCA-BR 2 181845756 181845756 single base substitution T G intron_variant SKCA-BR 2 181845756 181845756 single base substitution T G upstream_gene_variant SKCA-BR 2 181845762 181845762 single base substitution A G intron_variant SKCA-BR 2 181845762 181845762 single base substitution A G upstream_gene_variant SKCA-BR 2 181845768 181845768 single base substitution C G 5_prime_UTR_variant SKCA-BR 2 181845768 181845768 single base substitution C G intron_variant SKCA-BR 2 181845768 181845768 single base substitution C G upstream_gene_variant SKCA-BR 2 181846726 181846726 single base substitution C T intron_variant SKCA-BR 2 181846726 181846726 single base substitution C T upstream_gene_variant SKCA-BR 2 181847377 181847377 single base substitution A C intron_variant SKCA-BR 2 181847377 181847377 single base substitution A C upstream_gene_variant SKCA-BR 2 181847484 181847484 single base substitution C G intron_variant SKCA-BR 2 181847484 181847484 single base substitution C G upstream_gene_variant SKCA-BR 2 181865186 181865186 single base substitution C A intron_variant SKCA-BR 2 181868425 181868425 single base substitution C T intron_variant SKCA-BR 2 181870940 181870940 single base substitution T C intron_variant SKCA-BR 2 181873159 181873159 single base substitution C T intron_variant SKCA-BR 2 181874993 181874993 single base substitution G A intron_variant SKCA-BR 2 181879331 181879331 single base substitution G A intron_variant SKCA-BR 2 181881349 181881349 single base substitution C T intron_variant SKCA-BR 2 181886172 181886172 single base substitution C T intron_variant SKCA-BR 2 181886317 181886317 single base substitution T C intron_variant SKCA-BR 2 181886395 181886395 single base substitution T C intron_variant SKCA-BR 2 181888672 181888672 single base substitution C T intron_variant SKCA-BR 2 181891407 181891407 single base substitution A T intron_variant SKCA-BR 2 181897916 181897916 single base substitution C T intron_variant SKCA-BR 2 181899825 181899825 single base substitution G A intron_variant SKCA-BR 2 181900858 181900858 single base substitution G A intron_variant SKCA-BR 2 181903418 181903418 single base substitution G A intron_variant SKCA-BR 2 181908127 181908127 single base substitution C T intron_variant SKCA-BR 2 181910210 181910210 single base substitution C T intron_variant SKCA-BR 2 181913298 181913298 single base substitution C T intron_variant SKCA-BR 2 181917580 181917580 single base substitution C T intron_variant SKCA-BR 2 181917580 181917580 single base substitution C T upstream_gene_variant SKCA-BR 2 181918326 181918326 insertion of <=200bp - ATC intron_variant SKCA-BR 2 181918326 181918326 insertion of <=200bp - ATC upstream_gene_variant SKCA-BR 2 181919963 181919963 single base substitution G A intron_variant SKCA-BR 2 181919963 181919963 single base substitution G A upstream_gene_variant SKCA-BR 2 181921247 181921247 single base substitution C T intron_variant SKCA-BR 2 181921247 181921247 single base substitution C T upstream_gene_variant SKCA-BR 2 181925013 181925013 single base substitution C T downstream_gene_variant SKCA-BR 2 181925013 181925013 single base substitution C T intron_variant SKCA-BR 2 181925013 181925013 single base substitution C T upstream_gene_variant SKCA-BR 2 181925571 181925571 single base substitution G A downstream_gene_variant SKCA-BR 2 181925571 181925571 single base substitution G A intron_variant SKCA-BR 2 181925571 181925571 single base substitution G A upstream_gene_variant SKCA-BR 2 181929766 181929766 single base substitution G A downstream_gene_variant SKCA-BR 2 181929766 181929766 single base substitution G A intron_variant SKCA-BR 2 181930081 181930082 deletion of <=200bp AC - downstream_gene_variant SKCA-BR 2 181930081 181930082 deletion of <=200bp AC - intron_variant SKCA-BR 2 181933445 181933445 single base substitution C T intron_variant SKCA-BR 2 181935575 181935575 single base substitution T G intron_variant SKCA-BR 2 181937261 181937261 single base substitution T A intron_variant SKCA-BR 2 181937847 181937847 insertion of <=200bp - GTT intron_variant SKCA-BR 2 181938260 181938260 single base substitution C T intron_variant SKCA-BR 2 181946115 181946115 single base substitution A T downstream_gene_variant SKCM-US 2 181846925 181846925 single base substitution T C exon_variant SKCM-US 2 181846925 181846925 single base substitution T C synonymous_variant S52S 156T>C SKCM-US 2 181846925 181846925 single base substitution T C upstream_gene_variant SKCM-US 2 181922535 181922535 single base substitution C T exon_variant SKCM-US 2 181922535 181922535 single base substitution C T intron_variant SKCM-US 2 181922535 181922535 single base substitution C T missense_variant P121S 361C>T STAD-US 2 181846772 181846772 single base substitution G A exon_variant STAD-US 2 181846772 181846772 single base substitution G A start_lost M1I 3G>A STAD-US 2 181846772 181846772 single base substitution G A upstream_gene_variant STAD-US 2 181846888 181846890 deletion of <=200bp CTT - exon_variant STAD-US 2 181846888 181846890 deletion of <=200bp CTT - inframe_deletion PS40P STAD-US 2 181846888 181846890 deletion of <=200bp CTT - upstream_gene_variant STAD-US 2 181927574 181927574 single base substitution G A 3_prime_UTR_variant STAD-US 2 181927574 181927574 single base substitution G A downstream_gene_variant STAD-US 2 181927574 181927574 single base substitution G A exon_variant STAD-US 2 181927574 181927574 single base substitution G A intron_variant STAD-US 2 181927574 181927574 single base substitution G A missense_variant D195N 583G>A STAD-US 2 181927574 181927574 single base substitution G A upstream_gene_variant UCEC-US 2 181846877 181846877 deletion of <=200bp G - exon_variant UCEC-US 2 181846877 181846877 deletion of <=200bp G - frameshift_variant E36 UCEC-US 2 181846877 181846877 deletion of <=200bp G - upstream_gene_variant UCEC-US 2 181846920 181846921 deletion of <=200bp CT - exon_variant UCEC-US 2 181846920 181846921 deletion of <=200bp CT - frameshift_variant L51 UCEC-US 2 181846920 181846921 deletion of <=200bp CT - upstream_gene_variant UCEC-US 2 181922436 181922436 single base substitution G T exon_variant UCEC-US 2 181922436 181922436 single base substitution G T intron_variant UCEC-US 2 181922436 181922436 single base substitution G T missense_variant D88Y 262G>T UCEC-US 2 181925492 181925492 single base substitution C A downstream_gene_variant UCEC-US 2 181925492 181925492 single base substitution C A exon_variant UCEC-US 2 181925492 181925492 single base substitution C A intron_variant UCEC-US 2 181925492 181925492 single base substitution C A stop_gained S160* 479C>A UCEC-US 2 181925492 181925492 single base substitution C A upstream_gene_variant UCEC-US 2 181925530 181925530 single base substitution T G downstream_gene_variant UCEC-US 2 181925530 181925530 single base substitution T G exon_variant UCEC-US 2 181925530 181925530 single base substitution T G intron_variant UCEC-US 2 181925530 181925530 single base substitution T G missense_variant C173G 517T>G UCEC-US 2 181925530 181925530 single base substitution T G upstream_gene_variant UCEC-US 2 181927519 181927519 single base substitution G A downstream_gene_variant UCEC-US 2 181927519 181927519 single base substitution G A intron_variant UCEC-US 2 181927519 181927519 single base substitution G A splice_region_variant UCEC-US 2 181927519 181927519 single base substitution G A upstream_gene_variant UCEC-US 2 181927672 181927672 single base substitution A G 3_prime_UTR_variant UCEC-US 2 181927672 181927672 single base substitution A G downstream_gene_variant UCEC-US 2 181927672 181927672 single base substitution A G exon_variant UCEC-US 2 181927672 181927672 single base substitution A G intron_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-F4-6570-01 COSM1403741 c.228_230delTCC p.P79delP Deletion - In frame 2:180984076-180984078 + CRC-19T COSM5481677 c.466G>A p.A156T Substitution - Missense 2:181060752-181060752 + T3058 COSM4738674 c.411C>T p.N137N Substitution - coding silent 2:181060697-181060697 + 381_T COSM3962031 c.538G>T p.V180F Substitution - Missense 2:181062802-181062802 + CHC909T COSM4806360 c.112A>G p.R38G Substitution - Missense 2:180982154-180982154 + TCGA-BS-A0TJ-01 COSM1013548 c.528G>A p.A176A Substitution - coding silent 2:181062792-181062792 + TCGA-AP-A054-01 COSM1013546 c.479C>A p.S160* Substitution - Nonsense 2:181060765-181060765 + TCGA-D1-A17B-01 COSM1013542 c.151_152delCT p.S52fs*1 Deletion - Frameshift 2:180982193-180982194 + BD72T COSM5513937 c.119_121delCTT p.S41delS Deletion - In frame 2:180982161-180982163 + TCGA-EB-A3Y7-01 COSM3574732 c.156T>C p.S52S Substitution - coding silent 2:180982198-180982198 + T3021 COSM4738673 c.187G>A p.A63T Substitution - Missense 2:180982229-180982229 + TCGA-32-4211-01 COSM3407376 c.85G>A p.A29T Substitution - Missense 2:180982127-180982127 + PT37 COSM5917932 c.527-4C>T p.? Unknown 2:181062787-181062787 + pfg016T COSM1641742 c.582C>T p.H194H Substitution - coding silent 2:181062846-181062846 + Pat_45_B COSM5861266 c.169G>A p.A57T Substitution - Missense 2:180982211-180982211 + TCGA-D1-A103-01 COSM1013547 c.517T>G p.C173G Substitution - Missense 2:181060803-181060803 + TCGA-CG-5721-01 COSM4089393 c.583G>A p.D195N Substitution - Missense 2:181062847-181062847 + TCGA-AX-A05Z-01 COSM1013543 c.262G>T p.D88Y Substitution - Missense 2:181057709-181057709 + TCGA-D3-A3ML-06 COSM3574733 c.361C>T p.P121S Substitution - Missense 2:181057808-181057808 + PD3986a COSM165367 c.481A>T p.K161* Substitution - Nonsense 2:181060767-181060767 + 262T COSM4382702 c.262G>A p.D88N Substitution - Missense 2:181057709-181057709 + TCGA-23-1117-01 COSM81875 c.66G>T p.A22A Substitution - coding silent 2:180982108-180982108 + tumor_4177376 COSM5947660 c.148_156delAAACTCTCT p.K50_S52delKLS Deletion - In frame 2:180982190-180982198 + TCGA-66-2766-01 COSM719063 c.69C>A p.D23E Substitution - Missense 2:180982111-180982111 + ME100L COSM230949 c.362C>T p.P121L Substitution - Missense 2:181057809-181057809 + TCGA-21-5786-01 COSM719061 c.581A>G p.H194R Substitution - Missense 2:181062845-181062845 + ESCC_60 COSM5632733 c.588G>A p.R196R Substitution - coding silent 2:181062852-181062852 + D28 COSM5546068 c.244A>T p.S82C Substitution - Missense 2:180984092-180984092 + CHC909T COSM4806360 c.112A>G p.R38G Substitution - Missense 2:180982154-180982154 + TCGA-66-2766-01 COSM719060 c.591A>T p.I197I Substitution - coding silent 2:181062855-181062855 + TCGA-B6-A0RO-01 COSM441924 c.524C>T p.P175L Substitution - Missense 2:181060810-181060810 + ESCC-078T COSM3938825 c.503C>T p.S168F Substitution - Missense 2:181060789-181060789 + LUAD-RT-S01709 COSM379928 c.319G>C p.G107R Substitution - Missense 2:181057766-181057766 + ESO-720 COSM1269618 c.282A>T p.R94S Substitution - Missense 2:181057729-181057729 + HCA7 COSM4630684 c.382A>G p.T128A Substitution - Missense 2:181060668-181060668 + Case5b COSM1717303 c.399C>G p.I133M Substitution - Missense 2:181060685-181060685 + TCGA-BS-A0U9-01 COSM1013544 c.441C>A p.D147E Substitution - Missense 2:181060727-181060727 + TCGA-BS-A0U9-01 COSM1013545 c.456C>A p.N152K Substitution - Missense 2:181060742-181060742 + TCGA-D7-6527-01 COSM4089392 c.3G>A p.M1I Substitution - Missense 2:180982045-180982045 + J57_T COSM3962032 c.596G>A p.R199K Substitution - Missense 2:181062860-181062860 + PT36 COSM5915095 c.585C>G p.D195E Substitution - Missense 2:181062849-181062849 + 041T COSM1729262 c.571A>T p.R191* Substitution - Nonsense 2:181062835-181062835 + Case5c COSM1717303 c.399C>G p.I133M Substitution - Missense 2:181060685-181060685 + TCGA-G4-6302-01 COSM1641742 c.582C>T p.H194H Substitution - coding silent 2:181062846-181062846 + ccRCC-14 COSM1664855 c.502T>G p.S168A Substitution - Missense 2:181060788-181060788 + C0031T COSM4154714 c.475A>G p.I159V Substitution - Missense 2:181060761-181060761 + PDA_102 COSM5003623 c.362C>A p.P121Q Substitution - Missense 2:181057809-181057809 + 19 COSM5746028 c.378+2T>C p.? Unknown 2:181057827-181057827 + TCGA-AP-A0LE-01 COSM1013541 c.108delG p.E37fs*34 Deletion - Frameshift 2:180982150-180982150 + CSCC-44-T COSM4499153 c.535C>T p.L179L Substitution - coding silent 2:181062799-181062799 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.470769;Hs.470804 2q32.1 604151

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.H194R c.581A>G 2 181927572 LUSC A T Missense p.R94S c.282A>T 2 181922456 ESCA A T Nonsense p.K161* c.481A>T 2 181925494 BRCA A T Synonymous p.I197I c.591A>T 2 181927582 LUSC C A Missense p.D23E c.69C>A 2 181846838 LUSC C A Nonsense p.S160* c.479C>A 2 181925492 UCEC CT - Frameshift p.S52*fs*1 c.155_156delCT 2 181846920 UCEC C T Missense p.P121L c.362C>T 2 181922536 CM C T Missense p.P121S c.361C>T 2 181922535 CM C T Missense p.P175L c.524C>T 2 181925537 BRCA C T Synonymous p.H194H c.582C>T 2 181927573 STAD G A Missense p.A29T c.85G>A 2 181846854 GBM G A Missense p.M1I c.3G>A 2 181846772 STAD G A Synonymous p.A176A c.528G>A 2 181927519 UCEC G - Frameshift p.E37Kfs*34 c.109delG 2 181846877 UCEC G T Missense p.R196S c.588G>T 2 181927579 LUAD G T Synonymous p.A22A c.66G>T 2 181846835 OV