By default, a maximum of 50,000 variants can be displayed at a time (before applying the filters
described below), before the track switches to dense display mode.
Mouse hover on an item will display many details about each variant, including the affected gene(s),
the variant type, and annotation (missense, synonymous, etc).
Clicking on an item will display additional details on the variant, including a population frequency
table showing allele count in each sub-population.
Following the conventions on the gnomAD browser, items are shaded according to their Annotation
By default, variants are labeled according to their chromosomal position followed by the reference
and alternate alleles, for example "chr1:1234-1235 T/CAG".
dbSNP rsID's are also available as an additional label, if the variant is present in dbSnp.
As an individual variant can possess multiple FILTER and Variant Type values,
it is important to select any options of interest (or rather deselect if trying
to filter out variants from the display).
In order to cut down on the amount of displayed data, the following variant
types have been filtered out, but are still viewable in the gnomAD browser:
- Regulatory Region Variants
- Downstream/Upstream Gene Variants
- Transcription Factor Binding Site Variants
Annotations from the Loss-of-function curation results has been added where
appropriate to variants in both the exomes and genomes data.
For the full steps used to create the track at UCSC, please see the section
denoted "gnomAD v2.1.1 update" in the hg19 makedoc.
The raw data can be explored interactively with the Table Browser or the Data Integrator. For automated analysis, the
data may be queried from our REST API or downloaded as files from our
download server, subject to the conditions set forth by the
gnomAD consortium (see below). Please refer to our
mailing list archives for questions or our
Data Access FAQ
for more information.
More information about using and understanding the gnomAD data can be found in the
gnomAD FAQ site.
Thanks to the Genome Aggregation
Database Consortium for making these data available. The data are released under the ODC Open Database License
(OBdL) as described here.
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AJ, Cummings BB et al.
Analysis of protein-coding genetic variation in 60,706 humans.
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