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

Filter list for Advanced filter operators mode

This is a reference page for all filters available in Analyze v100.40.0 and newer in the Advanced filter operators mode.

Filter categories

Filter group
Purpose

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

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

Filter types

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

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

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.

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

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

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

Filters

Quality filters

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

Name
Description
Type

Allele Bias

Allele distribution range of a variant.

range

Alternate Read

Minimum number of reads supporting the alternate allele.

integer

Bin Count

Bin count of a variant. Applies only to CNVs.

integer

Calling Methodology

Calling method used for detection.

multi-select

Depth

Read depth at the variant position.

integer

EMG Base Quality

Base quality score of the variant.

integer

EMG Copy Number

Copy number of a variant. Applies to CNV types.

integer

EMG Genotype Quality

Genotype quality score of the variant.

integer

EMG Mapping Quality

Mapping quality score of the variant.

integer

HML

Variants in a homology region flagged by the DRAGEN variant caller.

on/off

Mapping Quality

Mapping quality (MQ) of the variant.

integer

MNP

Variants with the MNP flag.

on/off

Mosaic

Variants with the Mosaic tag from the DRAGEN variant caller.

on/off

Quality

Overall quality of the variant.

multi-select

SV Length

Variant length. Applies only to SVs.

range

Variant Callers Number

Number of variant callers that detected the variant.

integer

VCF Filter

`FILTER` column value in the VCF.

multi-select

Polymorphism filters

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

Use these tables to find polymorphism filters by source:

Aggregated sources

Name
Description
Type

All Databases | AC

Total allele count across population databases.

integer

All Databases | AF

Maximum allele frequency observed across population databases, excluding gnomAD Other.

number

All Databases | Hom/Hemi

Total homozygous and hemizygous count across population databases.

integer

Display Polymorphism

Polymorphic variants with allele frequency greater than 5%.

on/off

Emedgene

Name
Description
Type

Emedgene DB | AF

Allele frequency from Emedgene’s internal variant database.

number

1000 Genomes

Name
Description
Type

1000 Genomes | AC

Allele count for the variant in the 1000 Genomes dataset.

integer

1000 Genomes | AF

Allele frequency for the variant in the 1000 Genomes dataset.

number

Decipher Healthy Pop

Name
Description
Type

Decipher Healthy Pop | AC

Allele count in the Decipher healthy population dataset.

integer

Decipher Healthy Pop | AF

Allele frequency in the Decipher healthy population dataset.

number

DGV SV Gold

Name
Description
Type

DGV SV Gold | AC

Allele count from the DGV Gold structural variant dataset.

integer

DGV SV Gold | AF

Allele frequency from the DGV Gold structural variant dataset.

number

ExAC

Name
Description
Type

ExAC | AC

Allele count in the ExAC population dataset.

integer

ExAC | AF

Allele frequency in the ExAC population dataset.

number

ExAC | Hom/Hemi

Total homozygous and hemizygous count in the ExAC dataset.

integer

GME

Name
Description
Type

GME AC

Allele count in the Greater Middle Eastern Variome dataset.

integer

GME AF

Allele frequency in the Greater Middle Eastern Variome dataset.

number

GME Hom/Hemi

Total homozygous and hemizygous count in the GME dataset.

integer

gnomAD Combined

Name
Description
Type

gnomAD Combined AC

Total allele count across all gnomAD sub-populations.

integer

gnomAD Combined AF

Combined allele frequency across all gnomAD sub-populations.

number

gnomAD Combined Hemi

Total hemizygous count across gnomAD populations.

integer

gnomAD Combined Hom

Total homozygous count across gnomAD populations.

integer

gnomAD Combined HomHemi

Total homozygous and hemizygous count across gnomAD populations.

integer

gnomAD Grpmax FAF (95% CI)

Filtering allele frequency for the gnomAD genetic ancestry group with the highest FAF, expressed as the lower bound of the 95% confidence interval. Available for small variants in GRCh38 cases annotated with gnomAD 4.1 All dataset (pipeline v100.41+).

number

gnomAD Exome

Name
Description
Type

gnomAD Exome AC

Total allele count in the gnomAD Exome dataset.

integer

gnomAD Exome AC AFR

Allele count in the gnomAD Exome database for the AFR (African / African-American) sub-population.

integer

gnomAD Exome AC AMR

Allele count in the gnomAD Exome database for the AMR (Latino / Admixed American) sub-population.

integer

gnomAD Exome AC ASJ

Allele count in the gnomAD Exome database for the ASJ (Ashkenazi Jewish) sub-population.

integer

gnomAD Exome AC EAS

Allele count in the gnomAD Exome database for the EAS (East Asian) sub-population.

integer

gnomAD Exome AC FIN

Allele count in the gnomAD Exome database for the FIN (Finnish) sub-population.

integer

gnomAD Exome AC MID

Allele count in the gnomAD Exome database for the MID (Middle Eastern) sub-population.

integer

gnomAD Exome AC NFE

Allele count in the gnomAD Exome database for the NFE (Non-Finnish European) sub-population.

integer

gnomAD Exome AC OTH

Allele count in the gnomAD Exome database for the OTH (Other) sub-population.

integer

gnomAD Exome AC SAS

Allele count in the gnomAD Exome database for the SAS (South Asian) sub-population.

integer

gnomAD Exome AF

Total allele frequency in the gnomAD Exome database across all sub-populations.

number

gnomAD Exome AF AFR

Allele frequency in the gnomAD Exome database for the AFR (African / African-American) sub-population.

number

gnomAD Exome AF AMR

Allele frequency in the gnomAD Exome database for the AMR (Latino / Admixed American) sub-population.

number

gnomAD Exome AF ASJ

Allele frequency in the gnomAD Exome database for the ASJ (Ashkenazi Jewish) sub-population.

number

gnomAD Exome AF EAS

Allele frequency in the gnomAD Exome database for the EAS (East Asian) sub-population.

number

gnomAD Exome AF FIN

Allele frequency in the gnomAD Exome database for the FIN (Finnish) sub-population.

number

gnomAD Exome AF MID

Allele frequency in the gnomAD Exome database for the MID (Middle Eastern) sub-population.

number

gnomAD Exome AF NFE

Allele frequency in the gnomAD Exome database for the NFE (Non-Finnish European) sub-population.

number

gnomAD Exome AF OTH

Allele frequency in the gnomAD Exome database for the OTH (Other) sub-population.

number

gnomAD Exome AF SAS

Allele frequency in the gnomAD Exome database for the SAS (South Asian) sub-population.

number

gnomAD Exome AN

Total allele number in the gnomAD Exome dataset.

integer

gnomAD Exome AN AFR

Allele number in the gnomAD Exome database for the AFR (African / African-American) sub-population.

integer

gnomAD Exome AN AMR

Allele number in the gnomAD Exome database for the AMR (Latino / Admixed American) sub-population.

integer

gnomAD Exome AN ASJ

Allele number in the gnomAD Exome database for the ASJ (Ashkenazi Jewish) sub-population.

integer

gnomAD Exome AN EAS

Allele number in the gnomAD Exome database for the EAS (East Asian) sub-population.

integer

gnomAD Exome AN FIN

Allele number in the gnomAD Exome database for the FIN (Finnish) sub-population.

integer

gnomAD Exome AN MID

Allele number in the gnomAD Exome database for the MID (Middle Eastern) sub-population.

integer

gnomAD Exome AN NFE

Allele number in the gnomAD Exome database for the NFE (Non-Finnish European) sub-population.

integer

gnomAD Exome AN OTH

Allele number in the gnomAD Exome database for the OTH (Other) sub-population.

integer

gnomAD Exome AN SAS

Allele number in the gnomAD Exome database for the SAS (South Asian) sub-population.

integer

gnomAD Exome Hemi

Total hemizygous count in the gnomAD Exome dataset across all populations.

integer

gnomAD Exome Hemi AFR

Hemizygous count in the AFR (African / African-American) sub-population in the gnomAD Exome dataset.

integer

gnomAD Exome Hemi AMR

Hemizygous count in the AMR (Latino / Admixed American) sub-population in the gnomAD Exome dataset.

integer

gnomAD Exome Hemi ASJ

Hemizygous count in the ASJ (Ashkenazi Jewish) sub-population in the gnomAD Exome dataset.

integer

gnomAD Exome Hemi EAS

Hemizygous count in the EAS (East Asian) sub-population in the gnomAD Exome dataset.

integer

gnomAD Exome Hemi FIN

Hemizygous count in the FIN (Finnish) sub-population in the gnomAD Exome dataset.

integer

gnomAD Exome Hemi MID

Hemizygous count in the MID (Middle Eastern) sub-population in the gnomAD Exome dataset.

integer

gnomAD Exome Hemi NFE

Hemizygous count in the NFE (Non-Finnish European) sub-population in the gnomAD Exome dataset.

integer

gnomAD Exome Hemi OTH

Number of individuals with hemizygous state in the gnomAD Exome database for the OTH (Other) sub-population.

integer

gnomAD Exome Hemi SAS

Number of individuals with hemizygous state in the gnomAD Exome database for the SAS (South Asian) sub-population.

integer

gnomAD Exome Hom

Total number of homozygous individuals in the gnomAD Exome dataset.

integer

gnomAD Exome Hom AFR

Number of individuals with homozygous state in the gnomAD Exome database for the AFR (African / African-American) sub-population.

integer

gnomAD Exome Hom AMR

Number of individuals with homozygous state in the gnomAD Exome database for the AMR (Latino / Admixed American) sub-population.

integer

gnomAD Exome Hom ASJ

Number of individuals with homozygous state in the gnomAD Exome database for the ASJ (Ashkenazi Jewish) sub-population.

integer

gnomAD Exome Hom EAS

Number of individuals with homozygous state in the gnomAD Exome database for the EAS (East Asian) sub-population.

integer

gnomAD Exome Hom FIN

Number of individuals with homozygous state in the gnomAD Exome database for the FIN (Finnish) sub-population.

integer

gnomAD Exome Hom MID

Number of individuals with homozygous state in the gnomAD Exome database for the MID (Middle Eastern) sub-population.

integer

gnomAD Exome Hom NFE

Number of individuals with homozygous state in the gnomAD Exome database for the NFE (Non-Finnish European) sub-population.

integer

gnomAD Exome Hom OTH

Number of individuals with homozygous state in the gnomAD Exome database for the OTH (Other) sub-population.

integer

gnomAD Exome Hom SAS

Number of individuals with homozygous state in the gnomAD Exome database for the SAS (South Asian) sub-population.

integer

gnomAD Genome

Name
Description
Type

gnomAD Genome AC

Total allele count in the Genome Aggregation Database genome dataset across all sub-populations.

integer

gnomAD Genome AC AFR

Allele count in the gnomAD Genome database for the AFR (African / African-American) sub-population.

integer

gnomAD Genome AC AMI

Allele count in the gnomAD Genome database for the AMI (Amish) sub-population.

integer

gnomAD Genome AC AMR

Allele count in the gnomAD Genome database for the AMR (Latino / Admixed American) sub-population.

integer

gnomAD Genome AC ASJ

Allele count in the gnomAD Genome database for the ASJ (Ashkenazi Jewish) sub-population.

integer

gnomAD Genome AC EAS

Allele count in the gnomAD Genome database for the EAS (East Asian) sub-population.

integer

gnomAD Genome AC FIN

Allele count in the gnomAD Genome database for the FIN (Finnish) sub-population.

integer

gnomAD Genome AC MID

Allele count in the gnomAD Genome database for the MID (Middle Eastern) sub-population.

integer

gnomAD Genome AC NFE

Allele count in the gnomAD Genome database for the NFE (Non-Finnish European) sub-population.

integer

gnomAD Genome AC OTH

Allele count in the gnomAD Genome database for the OTH (Other) sub-population.

integer

gnomAD Genome AC SAS

Allele count in the gnomAD Genome database for the SAS (South Asian) sub-population.

integer

gnomAD Genome AF

Total allele frequency in the Genome Aggregation Database genome dataset across all sub-populations.

number

gnomAD Genome AF AFR

Allele frequency in the gnomAD Genome database for the AFR (African / African-American) sub-population.

number

gnomAD Genome AF AMI

Allele frequency in the gnomAD Genome database for the AMI (Amish) sub-population.

number

gnomAD Genome AF AMR

Allele frequency in the gnomAD Genome database for the AMR (Latino / Admixed American) sub-population.

number

gnomAD Genome AF ASJ

Allele frequency in the gnomAD Genome database for the ASJ (Ashkenazi Jewish) sub-population.

number

gnomAD Genome AF EAS

Allele frequency in the gnomAD Genome database for the EAS (East Asian) sub-population.

number

gnomAD Genome AF FIN

Allele frequency in the gnomAD Genome database for the FIN (Finnish) sub-population.

number

gnomAD Genome AF MID

Allele frequency in the gnomAD Genome database for the MID (Middle Eastern) sub-population.

number

gnomAD Genome AF NFE

Allele frequency in the gnomAD Genome database for the NFE (Non-Finnish European) sub-population.

number

gnomAD Genome AF OTH

Allele frequency in the gnomAD Genome database for the OTH (Other) sub-population.

number

gnomAD Genome AF SAS

Allele frequency in the gnomAD Genome database for the SAS (South Asian) sub-population.

number

gnomAD Genome AN

Total allele number in the Genome Aggregation Database genome dataset across all sub-populations.

integer

gnomAD Genome AN AFR

Allele number in the gnomAD Genome database for the AFR (African / African-American) sub-population.

integer

gnomAD Genome AN AMI

Allele number in the gnomAD Genome database for the AMI (Amish) sub-population.

integer

gnomAD Genome AN AMR

Allele number in the gnomAD Genome database for the AMR (Latino / Admixed American) sub-population.

integer

gnomAD Genome AN ASJ

Allele number in the gnomAD Genome database for the ASJ (Ashkenazi Jewish) sub-population.

integer

gnomAD Genome AN EAS

Allele number in the gnomAD Genome database for the EAS (East Asian) sub-population.

integer

gnomAD Genome AN FIN

Allele number in the gnomAD Genome database for the FIN (Finnish) sub-population.

integer

gnomAD Genome AN MID

Allele number in the gnomAD Genome database for the MID (Middle Eastern) sub-population.

integer

gnomAD Genome AN NFE

Allele number in the gnomAD Genome database for the NFE (Non-Finnish European) sub-population.

integer

gnomAD Genome AN OTH

Allele number in the gnomAD Genome database for the OTH (Other) sub-population.

integer

gnomAD Genome AN SAS

Allele number in the gnomAD Genome database for the SAS (South Asian) sub-population.

integer

gnomAD Genome Hemi

Total number of individuals with hemizygous state in the Genome Aggregation Database genome dataset across all sub-populations.

integer

gnomAD Genome Hemi AFR

Number of individuals with hemizygous state in the gnomAD Genome database for the AFR (African / African-American) sub-population.

integer

gnomAD Genome Hemi AMI

Number of individuals with hemizygous state in the gnomAD Genome database for the AMI (Amish) sub-population.

integer

gnomAD Genome Hemi AMR

Number of individuals with hemizygous state in the gnomAD Genome database for the AMR (Latino / Admixed American) sub-population.

integer

gnomAD Genome Hemi ASJ

Number of individuals with hemizygous state in the gnomAD Genome database for the ASJ (Ashkenazi Jewish) sub-population.

integer

gnomAD Genome Hemi EAS

Number of individuals with hemizygous state in the gnomAD Genome database for the EAS (East Asian) sub-population.

integer

gnomAD Genome Hemi FIN

Number of individuals with hemizygous state in the gnomAD Genome database for the FIN (Finnish) sub-population.

integer

gnomAD Genome Hemi MID

Number of individuals with hemizygous state in the gnomAD Genome database for the MID (Middle Eastern) sub-population.

integer

gnomAD Genome Hemi NFE

Number of individuals with hemizygous state in the gnomAD Genome database for the NFE (Non-Finnish European) sub-population.

integer

gnomAD Genome Hemi OTH

Number of individuals with hemizygous state in the gnomAD Genome database for the OTH (Other) sub-population.

integer

gnomAD Genome Hemi SAS

Number of individuals with hemizygous state in the gnomAD Genome database for the SAS (South Asian) sub-population.

integer

gnomAD Genome Hom

Total number of individuals with homozygous state in the Genome Aggregation Database genome dataset across all sub-populations.

integer

gnomAD Genome Hom AFR

Number of individuals with homozygous state in the gnomAD Genome database for the AFR (African / African-American) sub-population.

integer

gnomAD Genome Hom AMI

Number of individuals with homozygous state in the gnomAD Genome database for the AMI (Amish) sub-population.

integer

gnomAD Genome Hom AMR

Number of individuals with homozygous state in the gnomAD Genome database for the AMR (Latino / Admixed American) sub-population.

integer

gnomAD Genome Hom ASJ

Number of individuals with homozygous state in the gnomAD Genome database for the ASJ (Ashkenazi Jewish) sub-population.

integer

gnomAD Genome Hom EAS

Number of individuals with homozygous state in the gnomAD Genome database for the EAS (East Asian) sub-population.

integer

gnomAD Genome Hom FIN

Number of individuals with homozygous state in the gnomAD Genome database for the FIN (Finnish) sub-population.

integer

gnomAD Genome Hom MID

Number of individuals with homozygous state in the gnomAD Genome database for the MID (Middle Eastern) sub-population.

integer

gnomAD Genome Hom NFE

Number of individuals with homozygous state in the gnomAD Genome database for the NFE (Non-Finnish European) sub-population.

integer

gnomAD Genome Hom OTH

Number of individuals with homozygous state in the gnomAD Genome database for the OTH (Other) sub-population.

integer

gnomAD Genome Hom SAS

Number of individuals with homozygous state in the gnomAD Genome database for the SAS (South Asian) sub-population.

integer

gnomAD SV

Name
Description
Type

gnomAD SV AC

Allele count in the gnomAD SV (structural variants) database.

integer

gnomAD SV AF

Allele frequency in the gnomAD SV (structural variants) database.

number

gnomAD SV AFR AC

Allele count in the AFR (African / African-American) sub-population of the gnomAD SV dataset.

integer

gnomAD SV AFR AF

Allele frequency in the AFR (African / African-American) sub-population of the gnomAD SV dataset.

number

gnomAD SV AFR AN

Allele number in the AFR (African / African-American) sub-population of the gnomAD SV dataset.

integer

gnomAD SV AFR N HOMALT

Number of homozygous individuals in the AFR (African / African-American) sub-population of the gnomAD SV dataset.

integer

gnomAD SV AMR AC

Allele count in the AMR (Admixed American) sub-population of the gnomAD SV dataset.

integer

gnomAD SV AMR AF

Allele frequency in the AMR (Admixed American) sub-population of the gnomAD SV dataset.

number

gnomAD SV AMR AN

Allele number in the AMR (Admixed American) sub-population of the gnomAD SV dataset.

integer

gnomAD SV AMR N HOMALT

Number of homozygous individuals in the AMR (Admixed American) sub-population of the gnomAD SV dataset.

integer

gnomAD SV AN

Total number of alleles assessed for the structural variant site in the gnomAD SV dataset.

integer

gnomAD SV EAS AC

Allele count in the EAS (East Asian) sub-population of the gnomAD SV dataset.

integer

gnomAD SV EAS AF

Allele frequency in the EAS (East Asian) sub-population of the gnomAD SV dataset.

number

gnomAD SV EAS AN

Allele number in the EAS (East Asian) sub-population of the gnomAD SV dataset.

integer

gnomAD SV EAS N HOMALT

Number of homozygous individuals in the EAS (East Asian) sub-population of the gnomAD SV dataset.

integer

gnomAD SV EUR AC

Allele count in the EUR (European non-Finnish) sub-population of the gnomAD SV dataset.

integer

gnomAD SV EUR AF

Allele frequency in the EUR (European non-Finnish) sub-population of the gnomAD SV dataset.

number

gnomAD SV EUR AN

Allele number in the EUR (European non-Finnish) sub-population of the gnomAD SV dataset.

integer

gnomAD SV EUR N HOMALT

Number of homozygous individuals in the EUR (European non-Finnish) sub-population of the gnomAD SV dataset.

integer

gnomAD SV N HOMALT

Total number of homozygous individuals in the gnomAD SV dataset across all populations.

integer

gnomAD SV OTH AC

Allele count in the OTH (Other remaining) sub-population of the gnomAD SV dataset.

integer

gnomAD SV OTH AF

Allele frequency in the OTH (Other remaining) sub-population of the gnomAD SV dataset.

number

gnomAD SV OTH AN

Allele number in the OTH (Other remaining) sub-population of the gnomAD SV dataset.

integer

gnomAD SV OTH N HOMALT

Number of homozygous individuals in the OTH (Other remaining) sub-population of the gnomAD SV dataset.

integer

MITOMAP

Name
Description
Type

Mitomap Pop AC

Allele count of the mtDNA variant in the MITOMAP database.

integer

Mitomap Pop AF

Allele frequency of the mtDNA variant in the MITOMAP database.

number

Mitomap Pop AN

Total allele number at the variant site in the MITOMAP database.

integer

Variant type filters

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

Name
Description
Type

Variant type

Variant type.

multi-select

Variant effect filters

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

Name
Description
Type

ACMG Classification

ACMG pathogenicity category.

multi-select

ClinVar Known Variants

ClinVar classification.

multi-select

Curate

Existing Curate pathogenicity classification.

multi-select

Drug Response Variants

Variants known to influence drug response.

on/off

GnomAD-STR

Filter STR variants by the pathogenicity class defined in the gnomAD-STR dataset for the variant’s alternate repeat number.

multi-select

Known Pathogenic Variants

Variants classified as pathogenic or likely pathogenic in public or private variant databases.

on/off

Known Variants

Variants that have been curated in public or private variant databases.

on/off

Main Effect

Specific functional effect or VEP consequence.

multi-select

Main Severity

Main severity of the variant.

multi-select

In silico prediction filters

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

Name
Description
Type

CADD Phred

CADD Phred score indicating predicted variant deleteriousness.

integer

Conservation

Aggregated conservation category, such as High or Moderate.

multi-select