[{"chr":"22","coordinates":{"Protein":"p.R40*","cDNA":"c.118C>T","DNA":"chr22:g.24133967C>T","mtct":[["overlap","2909","EPZ-6438","SMARCB1","DELETION","Increased sensitivity or response","Preclinical stage","Rhabdoid cancer","23620515","24129150","24176703"],["overlap","3703","EPZ-6438","SMARCB1","UNDEREXPRESSION","Increased sensitivity or response","Preclinical stage","Synovial sarcoma","27391784","24129150","24176703"],["overlap","897","EZH2 inhibitor","SMARCB1","Mutation","Increased sensitivity or response","Case report stage","Rhabdoid cancer","ENA 2014 (abstr 6LBA), ESMO 2015 (abstract 302)","24129117","24176705"],["overlap","3558","EZH2 inhibitor","SMARCB1","Copy number loss","Increased sensitivity or response","Case report stage","Rhabdoid cancer","ENA 2014 (abstr 6LBA), ESMO 2015 (abstract 302)","24129117","24176705"],["overlap","668","HDAC inhibitors","SMARCB1","Mut","Increased sensitivity or response","Preclinical stage","Rhabdoid cancer","26920892","24129117","24176705"]],"cell":[]},"start":"24133967","alt_allele":"T","gene":"SMARCB1","end":"24133967","ref_allele":"C","region":"inside_[cds_in_exon_2]","strand":"+","transcript":"NM_003073 (protein_coding)","info":{"source":"RefSeq","aliases":"NP_003064","dbxref":"GeneID:6598,HGNC:11103,HPRD:03364,MIM:601607","candidate_mnv_variants":"chr22:g.24133967_24133968delCGinsTA,chr22:g.24133967_24133969delCGAinsTAG","reference_codon":"CGA","candidate_codons":"TAA,TAG,TGA","CSQN":"Nonsense"}},{"chr":"22","start":"24133967","coordinates":{"mtct":[["overlap","2909","EPZ-6438","SMARCB1","DELETION","Increased sensitivity or response","Preclinical stage","Rhabdoid cancer","23620515","24129150","24176703"],["overlap","3703","EPZ-6438","SMARCB1","UNDEREXPRESSION","Increased sensitivity or response","Preclinical stage","Synovial sarcoma","27391784","24129150","24176703"],["overlap","3558","EZH2 inhibitor","SMARCB1","Copy number loss","Increased sensitivity or response","Case report stage","Rhabdoid cancer","ENA 2014 (abstr 6LBA), ESMO 2015 (abstract 302)","24129117","24176705"],["overlap","897","EZH2 inhibitor","SMARCB1","Mutation","Increased sensitivity or response","Case report stage","Rhabdoid cancer","ENA 2014 (abstr 6LBA), ESMO 2015 (abstract 302)","24129117","24176705"],["overlap","668","HDAC inhibitors","SMARCB1","Mut","Increased sensitivity or response","Preclinical stage","Rhabdoid cancer","26920892","24129117","24176705"]],"cell":[],"DNA":"chr22:g.24133967C>T","cDNA":"c.118C>T","Protein":"p.R40*"},"ref_allele":"C","gene":"SMARCB1","end":"24133967","alt_allele":"T","region":"inside_[cds_in_exon_2]","strand":"+","transcript":"NM_001007468 (protein_coding)","info":{"dbxref":"GeneID:6598,HGNC:11103,HPRD:03364,MIM:601607","aliases":"NP_001007469","source":"RefSeq","candidate_codons":"TAA,TAG,TGA","reference_codon":"CGA","candidate_mnv_variants":"chr22:g.24133967_24133968delCGinsTA,chr22:g.24133967_24133969delCGAinsTAG","CSQN":"Nonsense"}},{"strand":"+","region":"inside_[cds_in_exon_2]","transcript":"XM_005261718 (protein_coding)","info":{"CSQN":"Nonsense","candidate_mnv_variants":"chr22:g.24133967_24133968delCGinsTA,chr22:g.24133967_24133969delCGAinsTAG","reference_codon":"CGA","candidate_codons":"TAA,TAG,TGA","aliases":"XP_005261775","source":"RefSeq","dbxref":"GeneID:6598,HGNC:11103,HPRD:03364,MIM:601607"},"chr":"22","alt_allele":"T","end":"24133967","gene":"SMARCB1","ref_allele":"C","start":"24133967","coordinates":{"DNA":"chr22:g.24133967C>T","cell":[],"mtct":[["overlap","2909","EPZ-6438","SMARCB1","DELETION","Increased sensitivity or response","Preclinical stage","Rhabdoid cancer","23620515","24129150","24176703"],["overlap","3703","EPZ-6438","SMARCB1","UNDEREXPRESSION","Increased sensitivity or response","Preclinical stage","Synovial sarcoma","27391784","24129150","24176703"],["overlap","3558","EZH2 inhibitor","SMARCB1","Copy number loss","Increased sensitivity or response","Case report stage","Rhabdoid cancer","ENA 2014 (abstr 6LBA), ESMO 2015 (abstract 302)","24129117","24176705"],["overlap","897","EZH2 inhibitor","SMARCB1","Mutation","Increased sensitivity or response","Case report stage","Rhabdoid cancer","ENA 2014 (abstr 6LBA), ESMO 2015 (abstract 302)","24129117","24176705"],["overlap","668","HDAC inhibitors","SMARCB1","Mut","Increased sensitivity or response","Preclinical stage","Rhabdoid cancer","26920892","24129117","24176705"]],"cDNA":"c.118C>T","Protein":"p.R40*"}}]
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