# v100.40.0+ filter list

This page documents all filters available in **Analyze** v100.40.0 and later:

* [**Quality filters**](#quality-filters)
* [**Polymorphism filters**](#polymorphism-filters)
* [**Variant type filters**](#variant-type-filters)
* [**Variant effect filters**](#variant-effect-filters)
* [**In silico prediction filters**](#in-silico-prediction-filters)
* [**Gene filters**](#gene-filters)
* [**Phenomatch filters**](#phenomatch-filters)
* [**Inheritance filters**](#inheritance-filters)
* [**Zygosity filters**](#zygosity-filters)
* [**Evidence & Tags filters**](#evidence--tags-filters)

For an explanation of the **Type** column, see **Filter types** below.

***

## Filter types

{% columns %}
{% column width="58.333333333333336%" valign="middle" %}

#### Multi-select

Allows selection of one or more values from a predefined list.

Variants are included if they match any of the selected values.

Examples:

* Variant effect
* ACMG pathogenicity class
  {% endcolumn %}

{% column width="41.666666666666664%" valign="middle" %}

<figure><img src="https://1131024994-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FGCW0DnLlE7QjoZPNmKIi%2Fuploads%2Fgit-blob-b350701a280a3c1460ced70408fc526ac0372ee3%2Fmulti-select.gif?alt=media" alt="" width="354"><figcaption></figcaption></figure>
{% endcolumn %}
{% endcolumns %}

{% columns %}
{% column width="58.333333333333336%" valign="middle" %}

#### True/false

A Boolean filter that requires explicit selection of either True or False.

Variants are included if they match the selected Boolean value.

Examples:

* Inheritance mode filters
* Viewed vs not viewed variants
  {% endcolumn %}

{% column width="41.666666666666664%" valign="middle" %}

<figure><img src="https://1131024994-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FGCW0DnLlE7QjoZPNmKIi%2Fuploads%2Fgit-blob-7ebd2e107f292d70e7289f407e3e291441b45405%2Ftrue%20false.gif?alt=media" alt=""><figcaption></figcaption></figure>
{% endcolumn %}
{% endcolumns %}

{% columns %}
{% column width="58.333333333333336%" valign="middle" %}

#### On/off

A binary filter that exposes only one selectable Boolean value (True or False). Selecting the available value enables the filter.

Variants are included if they meet the predefined filter condition.

Examples:

* Variants in targeted regions: True → Variants located in targeted regions are included.
* Display polymorphism: False → Variants with allele frequency > 0.05 are filtered out.
  {% endcolumn %}

{% column width="41.666666666666664%" valign="middle" %}

<figure><img src="https://1131024994-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FGCW0DnLlE7QjoZPNmKIi%2Fuploads%2Fgit-blob-3b717df133365bcf97bdb7bc1efe9054be56a8fe%2Fon%20off.gif?alt=media" alt=""><figcaption></figcaption></figure>
{% endcolumn %}
{% endcolumns %}

{% columns %}
{% column width="58.333333333333336%" valign="middle" %}

#### Integer

Accepts whole numbers only.

Variants are included when their value meets the specified criterion (for example, ≥ or ≤ the entered number).

Examples:

* Read depth
* Allele count
  {% endcolumn %}

{% column width="41.666666666666664%" valign="middle" %}

<div align="center"><figure><img src="https://1131024994-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FGCW0DnLlE7QjoZPNmKIi%2Fuploads%2Fgit-blob-88dfb1fa2244ec6ee4c700eecceec9c1833aab41%2Finteger.gif?alt=media" alt=""><figcaption></figcaption></figure></div>
{% endcolumn %}
{% endcolumns %}

{% columns %}
{% column width="58.333333333333336%" valign="middle" %}

#### Number

Accepts numeric values, including decimals.

Variants are included when their value meets the specified criterion (for example, ≥ or ≤ the entered number).

Example use cases

* Allele frequency
* In silico prediction scores
  {% endcolumn %}

{% column width="41.666666666666664%" valign="middle" %}

<figure><img src="https://1131024994-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FGCW0DnLlE7QjoZPNmKIi%2Fuploads%2Fgit-blob-e19323a44083b028ce4c1b26e26e2323b152c680%2Fnumber.gif?alt=media" alt=""><figcaption></figcaption></figure>
{% endcolumn %}
{% endcolumns %}

{% columns %}
{% column width="58.333333333333336%" valign="middle" %}

#### Range

Allows specification of a minimum value, a maximum value, or both. If only one boundary is provided, the range is open‑ended.

Variants are included if their values fall within the defined range.

Example use cases

* Variant length
* Allele bias
  {% endcolumn %}

{% column width="41.666666666666664%" valign="middle" %}

<figure><img src="https://1131024994-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FGCW0DnLlE7QjoZPNmKIi%2Fuploads%2Fgit-blob-19ff55211a4596a04d84c666a30d78c5e27243ab%2Frange.gif?alt=media" alt=""><figcaption></figcaption></figure>
{% endcolumn %}
{% endcolumns %}

***

## Quality filters

For an explanation of the **Type** column, see [**Filter types**](#filter-types). \\

<table data-full-width="false"><thead><tr><th width="128">Name</th><th width="456">Description</th><th>Type</th></tr></thead><tbody><tr><td>Allele Bias</td><td>Allele distribution range of a variant.</td><td>range</td></tr><tr><td>Alternate Read</td><td>Minimum number of reads supporting the alternate allele.</td><td>integer</td></tr><tr><td>Bin Count</td><td>Bin count of a variant. Applies only to CNVs.</td><td>integer</td></tr><tr><td>Calling Methodology</td><td>Calling method used for detection.</td><td>multi-select</td></tr><tr><td>Depth</td><td>Read depth at the variant position.</td><td>integer</td></tr><tr><td>EMG Base Quality</td><td>Base quality score of the variant.</td><td>integer</td></tr><tr><td>EMG Copy Number</td><td>Copy number of a variant. Applies to CNV types.</td><td>integer</td></tr><tr><td>EMG Genotype Quality</td><td>Genotype quality score of the variant.</td><td>integer</td></tr><tr><td>EMG Mapping Quality</td><td>Mapping quality score of the variant.</td><td>integer</td></tr><tr><td>HML</td><td>Variants in a homology region flagged by the DRAGEN variant caller.</td><td>on/off</td></tr><tr><td>Mapping Quality</td><td>Mapping quality (MQ) of the variant.</td><td>integer</td></tr><tr><td>MNP</td><td>Variants with the MNP flag.</td><td>on/off</td></tr><tr><td>Mosaic</td><td>Variants with the Mosaic tag from the DRAGEN variant caller.</td><td>on/off</td></tr><tr><td>Quality</td><td>Overall quality of the variant.</td><td>multi-select</td></tr><tr><td>SV Length</td><td>Variant length. Applies only to SVs.</td><td>range</td></tr><tr><td>Variant Callers Number</td><td>Number of variant callers that detected the variant.</td><td>integer</td></tr><tr><td>VCF Filter</td><td>`FILTER` column value in the VCF.</td><td>multi-select</td></tr></tbody></table>

## Polymorphism filters

For an explanation of the **Type** column, see [**Filter types**](#filter-types). \\

<table data-full-width="false"><thead><tr><th width="128">Name</th><th width="456">Description</th><th>Type</th></tr></thead><tbody><tr><td>1000 Genomes | AC</td><td>Allele count for the variant in the 1000 Genomes population dataset.</td><td>integer</td></tr><tr><td>1000 Genomes | AF</td><td>Allele frequency of the variant in the 1000 Genomes population dataset.</td><td>number</td></tr><tr><td>All Databases | AC</td><td>Total allele count across population databases.</td><td>integer</td></tr><tr><td>All Databases | AF</td><td>Maximum allele frequency observed across population databases, excluding gnomAD Other.</td><td>number</td></tr><tr><td>All Databases | Hom/Hemi</td><td>Total homozygous and hemizygous count across population databases.</td><td>integer</td></tr><tr><td>Decipher Healthy Pop | AC</td><td>Allele count in the Decipher healthy population dataset.</td><td>integer</td></tr><tr><td>Decipher Healthy Pop | AF</td><td>Allele frequency in the Decipher healthy population dataset.</td><td>number</td></tr><tr><td>DGV SV Gold | AC</td><td>Allele count from the DGV Gold structural variant dataset.</td><td>integer</td></tr><tr><td>DGV SV Gold | AF</td><td>Allele frequency from the DGV Gold structural variant dataset.</td><td>number</td></tr><tr><td>Emedgene DB | AF</td><td>Allele frequency from Emedgene’s internal variant database.</td><td>number</td></tr><tr><td>ExAC | AC</td><td>Allele count in the ExAC population dataset.</td><td>integer</td></tr><tr><td>ExAC | AF</td><td>Allele frequency in the ExAC population dataset.</td><td>number</td></tr><tr><td>ExAC | Hom/Hemi</td><td>Total homozygous and hemizygous count in the ExAC dataset.</td><td>integer</td></tr><tr><td>Display Polymorphism</td><td>Polymorphic variants with allele frequency greater than 5%.</td><td>on/off</td></tr><tr><td>GME AC</td><td>Allele count in the Greater Middle Eastern Variome dataset.</td><td>integer</td></tr><tr><td>GME AF</td><td>Allele frequency in the Greater Middle Eastern Variome dataset.</td><td>number</td></tr><tr><td>GME Hom/Hemi</td><td>Total homozygous and hemizygous count in the GME dataset.</td><td>integer</td></tr><tr><td>gnomAD Combined AC</td><td>Total allele count across all gnomAD sub-populations.</td><td>integer</td></tr><tr><td>gnomAD Combined AF</td><td>Combined allele frequency across all gnomAD sub-populations.</td><td>number</td></tr><tr><td>gnomAD Combined Hemi</td><td>Total hemizygous count across gnomAD populations.</td><td>integer</td></tr><tr><td>gnomAD Combined Hom</td><td>Total homozygous count across gnomAD populations.</td><td>integer</td></tr><tr><td>gnomAD Combined HomHemi</td><td>Total homozygous and hemizygous count across gnomAD populations.</td><td>integer</td></tr><tr><td>gnomAD Exome AC</td><td>Total allele count in the gnomAD Exome dataset.</td><td>integer</td></tr><tr><td>gnomAD Exome AC AFR</td><td>Allele count in the gnomAD Exome database for the AFR (African / African-American) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Exome AC AMR</td><td>Allele count in the gnomAD Exome database for the AMR (Latino / Admixed American) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Exome AC ASJ</td><td>Allele count in the gnomAD Exome database for the ASJ (Ashkenazi Jewish) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Exome AC EAS</td><td>Allele count in the gnomAD Exome database for the EAS (East Asian) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Exome AC FIN</td><td>Allele count in the gnomAD Exome database for the FIN (Finnish) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Exome AC MID</td><td>Allele count in the gnomAD Exome database for the MID (Middle Eastern) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Exome AC NFE</td><td>Allele count in the gnomAD Exome database for the NFE (Non-Finnish European) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Exome AC OTH</td><td>Allele count in the gnomAD Exome database for the OTH (Other) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Exome AC SAS</td><td>Allele count in the gnomAD Exome database for the SAS (South Asian) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Exome AF</td><td>Total allele frequency in the gnomAD Exome database across all sub-populations.</td><td>number</td></tr><tr><td>gnomAD Exome AF AFR</td><td>Allele frequency in the gnomAD Exome database for the AFR (African / African-American) sub-population.</td><td>number</td></tr><tr><td>gnomAD Exome AF AMR</td><td>Allele frequency in the gnomAD Exome database for the AMR (Latino / Admixed American) sub-population.</td><td>number</td></tr><tr><td>gnomAD Exome AF ASJ</td><td>Allele frequency in the gnomAD Exome database for the ASJ (Ashkenazi Jewish) sub-population.</td><td>number</td></tr><tr><td>gnomAD Exome AF EAS</td><td>Allele frequency in the gnomAD Exome database for the EAS (East Asian) sub-population.</td><td>number</td></tr><tr><td>gnomAD Exome AF FIN</td><td>Allele frequency in the gnomAD Exome database for the FIN (Finnish) sub-population.</td><td>number</td></tr><tr><td>gnomAD Exome AF MID</td><td>Allele frequency in the gnomAD Exome database for the MID (Middle Eastern) sub-population.</td><td>number</td></tr><tr><td>gnomAD Exome AF NFE</td><td>Allele frequency in the gnomAD Exome database for the NFE (Non-Finnish European) sub-population.</td><td>number</td></tr><tr><td>gnomAD Exome AF OTH</td><td>Allele frequency in the gnomAD Exome database for the OTH (Other) sub-population.</td><td>number</td></tr><tr><td>gnomAD Exome AF SAS</td><td>Allele frequency in the gnomAD Exome database for the SAS (South Asian) sub-population.</td><td>number</td></tr><tr><td>gnomAD Exome AN</td><td>Total allele number in the gnomAD Exome dataset.</td><td>integer</td></tr><tr><td>gnomAD Exome AN AFR</td><td>Allele number in the gnomAD Exome database for the AFR (African / African-American) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Exome AN AMR</td><td>Allele number in the gnomAD Exome database for the AMR (Latino / Admixed American) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Exome AN ASJ</td><td>Allele number in the gnomAD Exome database for the ASJ (Ashkenazi Jewish) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Exome AN EAS</td><td>Allele number in the gnomAD Exome database for the EAS (East Asian) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Exome AN FIN</td><td>Allele number in the gnomAD Exome database for the FIN (Finnish) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Exome AN MID</td><td>Allele number in the gnomAD Exome database for the MID (Middle Eastern) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Exome AN NFE</td><td>Allele number in the gnomAD Exome database for the NFE (Non-Finnish European) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Exome AN OTH</td><td>Allele number in the gnomAD Exome database for the OTH (Other) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Exome AN SAS</td><td>Allele number in the gnomAD Exome database for the SAS (South Asian) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Exome Hemi</td><td>Total hemizygous count in the gnomAD Exome dataset across all populations.</td><td>integer</td></tr><tr><td>gnomAD Exome Hemi AFR</td><td>Hemizygous count in the AFR (African / African-American) sub-population in the gnomAD Exome dataset.</td><td>integer</td></tr><tr><td>gnomAD Exome Hemi AMR</td><td>Hemizygous count in the AMR (Latino / Admixed American) sub-population in the gnomAD Exome dataset.</td><td>integer</td></tr><tr><td>gnomAD Exome Hemi ASJ</td><td>Hemizygous count in the ASJ (Ashkenazi Jewish) sub-population in the gnomAD Exome dataset.</td><td>integer</td></tr><tr><td>gnomAD Exome Hemi EAS</td><td>Hemizygous count in the EAS (East Asian) sub-population in the gnomAD Exome dataset.</td><td>integer</td></tr><tr><td>gnomAD Exome Hemi FIN</td><td>Hemizygous count in the FIN (Finnish) sub-population in the gnomAD Exome dataset.</td><td>integer</td></tr><tr><td>gnomAD Exome Hemi MID</td><td>Hemizygous count in the MID (Middle Eastern) sub-population in the gnomAD Exome dataset.</td><td>integer</td></tr><tr><td>gnomAD Exome Hemi NFE</td><td>Hemizygous count in the NFE (Non-Finnish European) sub-population in the gnomAD Exome dataset.</td><td>integer</td></tr><tr><td>gnomAD Exome Hemi OTH</td><td>Number of individuals with hemizygous state in the gnomAD Exome database for the OTH (Other) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Exome Hemi SAS</td><td>Number of individuals with hemizygous state in the gnomAD Exome database for the SAS (South Asian) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Exome Hom</td><td>Total number of homozygous individuals in the gnomAD Exome dataset.</td><td>integer</td></tr><tr><td>gnomAD Exome Hom AFR</td><td>Number of individuals with homozygous state in the gnomAD Exome database for the AFR (African / African-American) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Exome Hom AMR</td><td>Number of individuals with homozygous state in the gnomAD Exome database for the AMR (Latino / Admixed American) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Exome Hom ASJ</td><td>Number of individuals with homozygous state in the gnomAD Exome database for the ASJ (Ashkenazi Jewish) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Exome Hom EAS</td><td>Number of individuals with homozygous state in the gnomAD Exome database for the EAS (East Asian) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Exome Hom FIN</td><td>Number of individuals with homozygous state in the gnomAD Exome database for the FIN (Finnish) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Exome Hom MID</td><td>Number of individuals with homozygous state in the gnomAD Exome database for the MID (Middle Eastern) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Exome Hom NFE</td><td>Number of individuals with homozygous state in the gnomAD Exome database for the NFE (Non-Finnish European) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Exome Hom OTH</td><td>Number of individuals with homozygous state in the gnomAD Exome database for the OTH (Other) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Exome Hom SAS</td><td>Number of individuals with homozygous state in the gnomAD Exome database for the SAS (South Asian) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome AC</td><td>Total allele count in the Genome Aggregation Database genome dataset across all sub-populations.</td><td>integer</td></tr><tr><td>gnomAD Genome AC AFR</td><td>Allele count in the gnomAD Genome database for the AFR (African / African-American) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome AC AMI</td><td>Allele count in the gnomAD Genome database for the AMI (Amish) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome AC AMR</td><td>Allele count in the gnomAD Genome database for the AMR (Latino / Admixed American) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome AC ASJ</td><td>Allele count in the gnomAD Genome database for the ASJ (Ashkenazi Jewish) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome AC EAS</td><td>Allele count in the gnomAD Genome database for the EAS (East Asian) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome AC FIN</td><td>Allele count in the gnomAD Genome database for the FIN (Finnish) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome AC MID</td><td>Allele count in the gnomAD Genome database for the MID (Middle Eastern) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome AC NFE</td><td>Allele count in the gnomAD Genome database for the NFE (Non-Finnish European) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome AC OTH</td><td>Allele count in the gnomAD Genome database for the OTH (Other) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome AC SAS</td><td>Allele count in the gnomAD Genome database for the SAS (South Asian) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome AF</td><td>Total allele frequency in the Genome Aggregation Database genome dataset across all sub-populations.</td><td>number</td></tr><tr><td>gnomAD Genome AF AFR</td><td>Allele frequency in the gnomAD Genome database for the AFR (African / African-American) sub-population.</td><td>number</td></tr><tr><td>gnomAD Genome AF AMI</td><td>Allele frequency in the gnomAD Genome database for the AMI (Amish) sub-population.</td><td>number</td></tr><tr><td>gnomAD Genome AF AMR</td><td>Allele frequency in the gnomAD Genome database for the AMR (Latino / Admixed American) sub-population.</td><td>number</td></tr><tr><td>gnomAD Genome AF ASJ</td><td>Allele frequency in the gnomAD Genome database for the ASJ (Ashkenazi Jewish) sub-population.</td><td>number</td></tr><tr><td>gnomAD Genome AF EAS</td><td>Allele frequency in the gnomAD Genome database for the EAS (East Asian) sub-population.</td><td>number</td></tr><tr><td>gnomAD Genome AF FIN</td><td>Allele frequency in the gnomAD Genome database for the FIN (Finnish) sub-population.</td><td>number</td></tr><tr><td>gnomAD Genome AF MID</td><td>Allele frequency in the gnomAD Genome database for the MID (Middle Eastern) sub-population.</td><td>number</td></tr><tr><td>gnomAD Genome AF NFE</td><td>Allele frequency in the gnomAD Genome database for the NFE (Non-Finnish European) sub-population.</td><td>number</td></tr><tr><td>gnomAD Genome AF OTH</td><td>Allele frequency in the gnomAD Genome database for the OTH (Other) sub-population.</td><td>number</td></tr><tr><td>gnomAD Genome AF SAS</td><td>Allele frequency in the gnomAD Genome database for the SAS (South Asian) sub-population.</td><td>number</td></tr><tr><td>gnomAD Genome AN</td><td>Total allele number in the Genome Aggregation Database genome dataset across all sub-populations.</td><td>integer</td></tr><tr><td>gnomAD Genome AN AFR</td><td>Allele number in the gnomAD Genome database for the AFR (African / African-American) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome AN AMI</td><td>Allele number in the gnomAD Genome database for the AMI (Amish) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome AN AMR</td><td>Allele number in the gnomAD Genome database for the AMR (Latino / Admixed American) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome AN ASJ</td><td>Allele number in the gnomAD Genome database for the ASJ (Ashkenazi Jewish) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome AN EAS</td><td>Allele number in the gnomAD Genome database for the EAS (East Asian) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome AN FIN</td><td>Allele number in the gnomAD Genome database for the FIN (Finnish) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome AN MID</td><td>Allele number in the gnomAD Genome database for the MID (Middle Eastern) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome AN NFE</td><td>Allele number in the gnomAD Genome database for the NFE (Non-Finnish European) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome AN OTH</td><td>Allele number in the gnomAD Genome database for the OTH (Other) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome AN SAS</td><td>Allele number in the gnomAD Genome database for the SAS (South Asian) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome Hemi</td><td>Total number of individuals with hemizygous state in the Genome Aggregation Database genome dataset across all sub-populations.</td><td>integer</td></tr><tr><td>gnomAD Genome Hemi AFR</td><td>Number of individuals with hemizygous state in the gnomAD Genome database for the AFR (African / African-American) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome Hemi AMI</td><td>Number of individuals with hemizygous state in the gnomAD Genome database for the AMI (Amish) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome Hemi AMR</td><td>Number of individuals with hemizygous state in the gnomAD Genome database for the AMR (Latino / Admixed American) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome Hemi ASJ</td><td>Number of individuals with hemizygous state in the gnomAD Genome database for the ASJ (Ashkenazi Jewish) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome Hemi EAS</td><td>Number of individuals with hemizygous state in the gnomAD Genome database for the EAS (East Asian) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome Hemi FIN</td><td>Number of individuals with hemizygous state in the gnomAD Genome database for the FIN (Finnish) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome Hemi MID</td><td>Number of individuals with hemizygous state in the gnomAD Genome database for the MID (Middle Eastern) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome Hemi NFE</td><td>Number of individuals with hemizygous state in the gnomAD Genome database for the NFE (Non-Finnish European) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome Hemi OTH</td><td>Number of individuals with hemizygous state in the gnomAD Genome database for the OTH (Other) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome Hemi SAS</td><td>Number of individuals with hemizygous state in the gnomAD Genome database for the SAS (South Asian) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome Hom</td><td>Total number of individuals with homozygous state in the Genome Aggregation Database genome dataset across all sub-populations.</td><td>integer</td></tr><tr><td>gnomAD Genome Hom AFR</td><td>Number of individuals with homozygous state in the gnomAD Genome database for the AFR (African / African-American) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome Hom AMI</td><td>Number of individuals with homozygous state in the gnomAD Genome database for the AMI (Amish) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome Hom AMR</td><td>Number of individuals with homozygous state in the gnomAD Genome database for the AMR (Latino / Admixed American) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome Hom ASJ</td><td>Number of individuals with homozygous state in the gnomAD Genome database for the ASJ (Ashkenazi Jewish) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome Hom EAS</td><td>Number of individuals with homozygous state in the gnomAD Genome database for the EAS (East Asian) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome Hom FIN</td><td>Number of individuals with homozygous state in the gnomAD Genome database for the FIN (Finnish) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome Hom MID</td><td>Number of individuals with homozygous state in the gnomAD Genome database for the MID (Middle Eastern) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome Hom NFE</td><td>Number of individuals with homozygous state in the gnomAD Genome database for the NFE (Non-Finnish European) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome Hom OTH</td><td>Number of individuals with homozygous state in the gnomAD Genome database for the OTH (Other) sub-population.</td><td>integer</td></tr><tr><td>gnomAD Genome Hom SAS</td><td>Number of individuals with homozygous state in the gnomAD Genome database for the SAS (South Asian) sub-population.</td><td>integer</td></tr><tr><td>gnomAD SV AC</td><td>Allele count in the gnomAD SV (structural variants) database.</td><td>integer</td></tr><tr><td>gnomAD SV AF</td><td>Allele frequency in the gnomAD SV (structural variants) database.</td><td>number</td></tr><tr><td>gnomAD SV AFR AC</td><td>Allele count in the AFR (African / African-American) sub-population of the gnomAD SV dataset.</td><td>integer</td></tr><tr><td>gnomAD SV AFR AF</td><td>Allele frequency in the AFR (African / African-American) sub-population of the gnomAD SV dataset.</td><td>number</td></tr><tr><td>gnomAD SV AFR AN</td><td>Allele number in the AFR (African / African-American) sub-population of the gnomAD SV dataset.</td><td>integer</td></tr><tr><td>gnomAD SV AFR N HOMALT</td><td>Number of homozygous individuals in the AFR (African / African-American) sub-population of the gnomAD SV dataset.</td><td>integer</td></tr><tr><td>gnomAD SV AMR AC</td><td>Allele count in the AMR (Admixed American) sub-population of the gnomAD SV dataset.</td><td>integer</td></tr><tr><td>gnomAD SV AMR AF</td><td>Allele frequency in the AMR (Admixed American) sub-population of the gnomAD SV dataset.</td><td>number</td></tr><tr><td>gnomAD SV AMR AN</td><td>Allele number in the AMR (Admixed American) sub-population of the gnomAD SV dataset.</td><td>integer</td></tr><tr><td>gnomAD SV AMR N HOMALT</td><td>Number of homozygous individuals in the AMR (Admixed American) sub-population of the gnomAD SV dataset.</td><td>integer</td></tr><tr><td>gnomAD SV AN</td><td>Total number of alleles assessed for the structural variant site in the gnomAD SV dataset.</td><td>integer</td></tr><tr><td>gnomAD SV EAS AC</td><td>Allele count in the EAS (East Asian) sub-population of the gnomAD SV dataset.</td><td>integer</td></tr><tr><td>gnomAD SV EAS AF</td><td>Allele frequency in the EAS (East Asian) sub-population of the gnomAD SV dataset.</td><td>number</td></tr><tr><td>gnomAD SV EAS AN</td><td>Allele number in the EAS (East Asian) sub-population of the gnomAD SV dataset.</td><td>integer</td></tr><tr><td>gnomAD SV EAS N HOMALT</td><td>Number of homozygous individuals in the EAS (East Asian) sub-population of the gnomAD SV dataset.</td><td>integer</td></tr><tr><td>gnomAD SV EUR AC</td><td>Allele count in the EUR (European non-Finnish) sub-population of the gnomAD SV dataset.</td><td>integer</td></tr><tr><td>gnomAD SV EUR AF</td><td>Allele frequency in the EUR (European non-Finnish) sub-population of the gnomAD SV dataset.</td><td>number</td></tr><tr><td>gnomAD SV EUR AN</td><td>Allele number in the EUR (European non-Finnish) sub-population of the gnomAD SV dataset.</td><td>integer</td></tr><tr><td>gnomAD SV EUR N HOMALT</td><td>Number of homozygous individuals in the EUR (European non-Finnish) sub-population of the gnomAD SV dataset.</td><td>integer</td></tr><tr><td>gnomAD SV N HOMALT</td><td>Total number of homozygous individuals in the gnomAD SV dataset across all populations.</td><td>integer</td></tr><tr><td>gnomAD SV OTH AC</td><td>Allele count in the OTH (Other remaining) sub-population of the gnomAD SV dataset.</td><td>integer</td></tr><tr><td>gnomAD SV OTH AF</td><td>Allele frequency in the OTH (Other remaining) sub-population of the gnomAD SV dataset.</td><td>number</td></tr><tr><td>gnomAD SV OTH AN</td><td>Allele number in the OTH (Other remaining) sub-population of the gnomAD SV dataset.</td><td>integer</td></tr><tr><td>gnomAD SV OTH N HOMALT</td><td>Number of homozygous individuals in the OTH (Other remaining) sub-population of the gnomAD SV dataset.</td><td>integer</td></tr><tr><td>Mitomap Pop AC</td><td>Allele count of the mtDNA variant in the MITOMAP database.</td><td>integer</td></tr><tr><td>Mitomap Pop AF</td><td>Allele frequency of the mtDNA variant in the MITOMAP database.</td><td>number</td></tr><tr><td>Mitomap Pop AN</td><td>Total allele number at the variant site in the MITOMAP database.</td><td>integer</td></tr></tbody></table>

## Variant type filters

For an explanation of the **Type** column, see [**Filter types**](#filter-types). \\

<table data-full-width="false"><thead><tr><th width="128">Name</th><th width="456">Description</th><th>Type</th></tr></thead><tbody><tr><td>Variant type</td><td>Variant type.</td><td>multi-select</td></tr></tbody></table>

## Variant effect filters

For an explanation of the **Type** column, see [**Filter types**](#filter-types). \\

<table data-full-width="false"><thead><tr><th width="128">Name</th><th width="456">Description</th><th>Type</th></tr></thead><tbody><tr><td>ACMG Classification</td><td>ACMG pathogenicity category.</td><td>multi-select</td></tr><tr><td>ClinVar Known Variants</td><td>ClinVar classification.</td><td>multi-select</td></tr><tr><td>Curate</td><td>Existing Curate pathogenicity classification.</td><td>multi-select</td></tr><tr><td>Drug Response Variants</td><td>Variants known to influence drug response.</td><td>on/off</td></tr><tr><td>GnomAD-STR</td><td>Filter STR variants by the pathogenicity class defined in the gnomAD-STR dataset for the variant’s alternate repeat number.</td><td>multi-select</td></tr><tr><td>Known Pathogenic Variants</td><td>Variants classified as pathogenic or likely pathogenic in public or private variant databases.</td><td>on/off</td></tr><tr><td>Known Variants</td><td>Variants that have been curated in public or private variant databases.</td><td>on/off</td></tr><tr><td>Main Effect</td><td>Specific functional effect or VEP consequence.</td><td>multi-select</td></tr><tr><td>Main Severity</td><td>Main severity of the variant.</td><td>multi-select</td></tr></tbody></table>

## In silico prediction filters

For an explanation of the **Type** column, see [**Filter types**](#filter-types). \\

<table data-full-width="false"><thead><tr><th width="128">Name</th><th width="456">Description</th><th>Type</th></tr></thead><tbody><tr><td>CADD Phred</td><td>CADD Phred score indicating predicted variant deleteriousness.</td><td>integer</td></tr><tr><td>Conservation</td><td>Aggregated conservation category, such as High or Moderate.</td><td>multi-select</td></tr><tr><td>GERP RS</td><td>GERP RS conservation score for the variant.</td><td>number</td></tr><tr><td>Missense Prediction</td><td>Predicted missense impact of the variant.</td><td>multi-select</td></tr><tr><td>PLI</td><td>Gene pLI score.</td><td>number</td></tr><tr><td>PrimateAI3D Prediction</td><td>PrimateAI3D prediction value for the variant.</td><td>multi-select</td></tr><tr><td>PrimateAI3D Score</td><td>PrimateAI3D prediction score for the variant.</td><td>number</td></tr><tr><td>REVEL Score</td><td>REVEL score for the variant.</td><td>number</td></tr><tr><td>Splice Prediction</td><td>Overall splice prediction for the variant.</td><td>multi-select</td></tr><tr><td>SpliceAI DS AG</td><td>SpliceAI DS AG score of the variant.</td><td>number</td></tr><tr><td>SpliceAI DS AL</td><td>SpliceAI DS AL score of the variant.</td><td>number</td></tr><tr><td>SpliceAI DS DG</td><td>SpliceAI DS DG score of the variant.</td><td>number</td></tr><tr><td>SpliceAI DS DL</td><td>SpliceAI DS DL score of the variant.</td><td>number</td></tr><tr><td>Z missense</td><td>Variants with a z-missense score for the gene.</td><td>number</td></tr></tbody></table>

## Gene filters

For an explanation of the **Type** column, see [**Filter types**](#filter-types). \\

<table data-full-width="false"><thead><tr><th width="128">Name</th><th width="456">Description</th><th>Type</th></tr></thead><tbody><tr><td>All ACMG Genes</td><td>Variants in genes defined as clinically actionable by ACMG.</td><td>on/off</td></tr><tr><td>All Disease Associated Genes</td><td>Variants in genes with known disease associations.</td><td>on/off</td></tr><tr><td>All Unknown Genes</td><td>Variants in genes without established disease associations.</td><td>on/off</td></tr><tr><td>Cancer Associated Genes</td><td>Variants in genes associated with cancer.</td><td>on/off</td></tr><tr><td>Candidate Genes</td><td>Variants in genes included in the gene list defined during case creation.</td><td>on/off</td></tr><tr><td>Cardiovascular Genes</td><td>Variants in genes associated with cardiovascular disease.</td><td>on/off</td></tr><tr><td>Coding Regions</td><td>Variants in known protein-coding regions.</td><td>true/false</td></tr><tr><td>Drug Response Genes</td><td>Variants in genes implicated in drug response.</td><td>on/off</td></tr><tr><td>Established HI/TS Genes</td><td>Variants in genes with known haploinsufficiency or triplosensitivity.</td><td>multi-select</td></tr><tr><td>Imprinted Genes</td><td>Variants in genes known to be associated with imprinted disorders.</td><td>on/off</td></tr><tr><td>In Targeted Regions</td><td>Variants in enrichment kit regions selected during case creation. Falls back to RefSeq coding if no kit is provided.</td><td>on/off</td></tr><tr><td>LoF Genes</td><td>Variants in loss-of-function (LoF) genes with gnomAD pLI ≥ 0.9.</td><td>on/off</td></tr></tbody></table>

## Phenomatch filters

For an explanation of the **Type** column, see [**Filter types**](#filter-types). \\

<table data-full-width="false"><thead><tr><th width="128">Name</th><th width="456">Description</th><th>Type</th></tr></thead><tbody><tr><td>Phenomatch - High Specificity</td><td>Variants in genes linked to diseases with phenotypes that exactly match the proband phenotypes.</td><td>on/off</td></tr><tr><td>Phenomatch - Powered by AI</td><td>Variants in genes with loose phenotype similarity to the patient’s HPO terms.</td><td>on/off</td></tr><tr><td>Phenomatch with Unknown</td><td>Variants in genes of unknown significance that have indirect associations with proband's phenotype.</td><td>on/off</td></tr><tr><td>Phenomeld</td><td>Variants in genes returned by the Phenomeld model.</td><td>on/off</td></tr><tr><td>Phenomeld Threshold</td><td>Phenomeld score of the variant.</td><td>number</td></tr></tbody></table>

## Inheritance filters

For an explanation of the **Type** column, see [**Filter types**](#filter-types). \\

<table data-full-width="false"><thead><tr><th width="128">Name</th><th width="456">Description</th><th>Type</th></tr></thead><tbody><tr><td>Autosomal Dominant</td><td>Variants with autosomal dominant inheritance.</td><td>true/false</td></tr><tr><td>Autosomal Recessive - Homozygotes</td><td>Variants with autosomal recessive homozygous inheritance.</td><td>true/false</td></tr><tr><td>De Novo Dominant</td><td>Variants with de novo dominant inheritance.</td><td>true/false</td></tr><tr><td>Display No Coverage</td><td>Variants without sequencing coverage.</td><td>on/off</td></tr><tr><td>X-Linked Dominant</td><td>Variants with X-linked dominant inheritance.</td><td>true/false</td></tr><tr><td>X-Linked Recessive</td><td>Variants with X-linked recessive inheritance.</td><td>true/false</td></tr></tbody></table>

## Zygosity filters

For an explanation of the **Type** column, see [**Filter types**](#filter-types). \\

<table data-full-width="false"><thead><tr><th width="128">Name</th><th width="456">Description</th><th>Type</th></tr></thead><tbody><tr><td>Zygosity</td><td>Zygosity of the proband, parents, and other samples.</td><td>multi-select</td></tr></tbody></table>

## Evidence & Tags filters

For an explanation of the **Type** column, see [**Filter types**](#filter-types). \\

<table data-full-width="false"><thead><tr><th width="128">Name</th><th width="456">Description</th><th>Type</th></tr></thead><tbody><tr><td>AI Shortlist</td><td>Variants tagged by Emedgene’s AI Shortlist model.</td><td>multi-select</td></tr><tr><td>Manually added variants</td><td>Variants added manually in the case.</td><td>true/false</td></tr><tr><td>Manually Classified Variants</td><td>Variants with established pathogenicity in prior cases.</td><td>multi-select</td></tr><tr><td>Pathogenicity</td><td>Variants with user-assigned pathogenicity.</td><td>multi-select</td></tr><tr><td>Pathogenicity Tag</td><td>Variants with a Pathogenicity tag.</td><td>on/off</td></tr><tr><td>Submitted for Sanger confirmation</td><td>Variants for which Sanger Confirmation is marked True.</td><td>on/off</td></tr><tr><td>User tags</td><td>Variants tagged by users.</td><td>multi-select</td></tr><tr><td>Variant Interpretation</td><td>Variants with an automatically added or user-added Variant Interpretation.</td><td>on/off</td></tr><tr><td>Viewed</td><td>Variants that you have viewed (true) or not viewed (false).</td><td>true/false</td></tr></tbody></table>