Histogram views are shown when there are more than 50 features on a single chromosome. Please click on the histogram to view individual features at that position.

{"SNV":[{"end":129601217,"vep_consequence":"missense_variant","shared":"public","pathogenicity_percentage":50,"vep_category":"Protein Changing","feedback":"Yes","ref_allele":"C","annotated":1,"confirmed_by":"Sequencing","validation":"Validated","patient_snv_id":2472,"remap_value":null,"user_transcript":"ENST00000421865","user_gene":"LAMA2","alt_allele":"T","id":2472,"original_position":null,"remapped_from":null,"ensembl_transcript":"ENST00000421865","start":129601217,"patient_id":267221,"contribution":"Uncertain","gene_name":"LAMA2","updated":"2016-07-05 01:14:04","intergenic":0,"genotype":"Heterozygous","inheritance":"Maternally inherited, constitutive in mother","created":"2015-05-20 09:20:23","refseq_transcript":"NM_000426.3","chr":"6","public":1,"assembly":"GRCh37/hg19","pathogenicity":"Uncertain","user_hgvs":null},{"user_hgvs":null,"pathogenicity":"Uncertain","assembly":"GRCh37/hg19","public":1,"chr":"6","created":"2015-05-20 09:20:25","refseq_transcript":"NM_000426.3","inheritance":"Paternally inherited, constitutive in father","genotype":"Heterozygous","intergenic":0,"updated":"2016-07-05 01:14:03","gene_name":"LAMA2","contribution":"Uncertain","patient_id":267221,"start":129762003,"ensembl_transcript":"ENST00000421865","remapped_from":null,"id":2473,"original_position":null,"alt_allele":"G","user_gene":"LAMA2","user_transcript":"ENST00000421865","remap_value":null,"validation":"Validated","patient_snv_id":2473,"confirmed_by":"Sequencing","annotated":1,"feedback":"Yes","ref_allele":"A","vep_category":"Protein Changing","pathogenicity_percentage":50,"shared":"public","vep_consequence":"missense_variant","end":129762003}]}
{"SNV":[{"inheritance":"De novo constitutive","genotype":"Heterozygous","refseq_transcript":"NM_130438.2","created":"2015-05-20 09:20:28","chr":"21","patient_id":267221,"start":38862641,"gene_name":"DYRK1A","contribution":"Full","intergenic":0,"updated":"2018-07-23 09:25:53","pathogenicity":"Pathogenic","user_hgvs":null,"public":1,"assembly":"GRCh37/hg19","feedback":"Yes","ref_allele":"G","annotated":1,"confirmed_by":"Sequencing","validation":"Validated","patient_snv_id":2474,"end":38862641,"vep_consequence":"missense_variant","vep_category":"Protein Changing","shared":"public","pathogenicity_percentage":99,"alt_allele":"C","remapped_from":null,"original_position":null,"id":2474,"ensembl_transcript":"ENST00000398960","remap_value":null,"user_gene":"DYRK1A","user_transcript":"ENST00000398960"}]}

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