For the complete documentation index, see llms.txt. This page is also available as Markdown.

Filters tab

The table below lists the available filter categories. In Different modes, a green check mark means the filter category supports Simple and Advanced filtering modes.

Filter category
Purpose
Different modes

Quality filters

Narrow variants by sequencing quality metrics such as depth, mapping quality, and confidence grade

Polymorphism filters

Filter by allele frequency and genotype counts from public databases (e.g., gnomAD, ExAC) or your lab’s internal controls

Variant type filters

Focus on specific variant categories (SNVs, indels, CNVs, SVs, STRs, mtDNA)

Variant effect filters

Select by predicted consequences on genes or proteins, ACMG classes, or database classifications

Apply computational prediction scores for pathogenicity, conservation, splicing, or missense effects

Gene filters

Restrict results to genes of interest, such as disease–associated, candidate, ACMG actionable, or cancer–related genes

Phenomatch filters

Highlight variants in genes with known disease associations matching the proband’s phenotypes

(v100.40.0+)

Inheritance filters

Filter variants according to inheritance patterns consistent with family genotypes and phenotypes

Zygosity filters

Select by genotype status (Het, Hom, Hemi) in specific samples

Evidence & Tags filters

Show variants tagged by users, AI shortlist, or flagged at the organization level

Quality, Polymorphism, Variant effect, In silico prediction, Phenomatch filters (v100.40.0+), and Evidence & Tags filters can operate in either a simple or advanced mode.

Use Simple mode for quick, high-level filtering. For more detailed filtering with expanded options, choose Advanced mode to gain deeper control over filter parameters.

Filter group
Filter
Setting

Quality filters

Quality

Moderate, High

Quality filters

Mapping Quality

≥45

Quality filters

Depth

≥10

Variant effect filters

Severity

Low, Moderate, High

Zygosity filters

Proband zygosity

Het, Hom

Gene filters

Candidate genes

Active (only in cases analyzed with a gene list)

Use the Filters tab in the Filtering panel to narrow the variant list by applying filtering conditions. Filters are applied to the variant table and update results as you refine your criteria.

Filter operators modes

The Filters tab operates in two filter operators modes: Simple and Advanced.

Simple filter operators mode:

  • Filtering logic is predefined and not configurable.

  • Use Simple filter operators mode for common filtering scenarios where explicit control over filtering logic is not required.

Advanced filter operators mode (v100.40.0+):

  • Filtering logic is explicit and user-defined, and additional filters are available.

  • Use Advanced filter operators mode for filtering logic that is complex, requires precise control, or includes filters that are only available in Advanced filter operators mode.

Filter settings are saved separately for each filter operators mode for the current session. Switching between modes does not clear or merge those settings, except when you select Clear in Advanced filter operators mode (see below).

Understand filter operators modes vs category-level filtering modes

Filter operators modes define how filters are combined in the Filters tab:

  • Simple: Filtering logic is implicit.

  • Advanced: Filtering logic is explicit and user-defined.


Per-category filtering modes are available for some filter categories in Simple filter operators mode. They affect the options available within that category:

  • Simple: High-level filters.

  • Advanced: Expanded filters.

Learn more about category-level modes here.

Switch between filter operators modes

Switching between Simple and Advanced filter operators modes on v100.40.0.
1

In Analysis tools, open the Filters tab.

2

Select Switch to Advanced on top of the Filters tab to enter Advanced filter operators mode.

3

To return to Simple filter operators mode, select Switch to Simple.

Result: The selected filter operators mode is enabled. If you previously configured filters in that mode, they remain available.

Actions menu

Use the Actions menu (â‹®) to:

  • Clear filters

  • Reset filters to default settings

  • Save the current configuration as a preset

Warning: Clear and Reset to default in Advanced filter operators mode

Learn more

Simple filter operators mode

Use default filter behavior to narrow variants with standard filter categories and default actions.

Learn more

Advanced filter operators mode (v100.40.0+)

Build explicit filter logic with AND, OR, nested condition groups, and include or exclude rules.

Learn more

Variant search

Refine active filters with ad hoc search terms for genes, phenotypes, diseases, and variant notation.

Learn more

Presets tab

Save filter configurations as presets and apply predefined filtering strategies during case review.

Learn more

Filtering panel

See how filters, presets, preset groups, and variant search work together during case review.

Learn more

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