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The list of variants in the main panel can be thoroughly filtered by any of the parameters listed below. Some sections :appear collapsed by default, to expand them, just click on the title.
- Studies: users can filter the list of variants by its existence or absence in one or more published studies. To do so, select the studies to use and the desired option from the dropdown menu: Only in to include variants that appear only in all the selected studies but not in the unselected ones, In to include variants that appear in any of the selected studies but not in the unselected ones, At least in to include variants that appear in any of the selected studies and can also be present in the unselected ones, and, Not in to exclude all the variants that appear in any of the selected projects.
- Position: Restrict restrict the list of variants to a specified genomic region (specified by chr:start-end), gene (in HGNC symbol) or SNP (use the rsID).
- Type: Limit the search to just one or few types of variant: SNV (Single Nucleotide Variant), MNV (Multi-nucleotide Variant), CNV (Copy Number Variant), SV (Structural Variant) or INDEL (Insertion or deletion).
- Population Frequency: restrict the list of variants to those which have a MAF (Minor Allele Frequency) higher/lower/equal to a defined value in the 1000 genomes project, ExAc and/or ESP 6500. To do so, expand the "+" sign next to the desired project, select from the dropdown menu the comparison operator and specify the value (between 0 and 1) in the text box. MAF filtering can be applied to all of the samples in the specified project (ALL) or to one/few specific populations within the selected project.
- Protein Substitution Score:
- Conservation:
- Consequence Type:
- Gene Ontology:
- Human Phenotype Ontology:
- CADD:
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