exac.variant: alias: description: The Exome Aggregation Consortium (ExAC) is a coalition of investigators seeking to aggregate and harmonize exome sequencing data from a variety of large-scale sequencing projects, and to make summary data available for the wider scientific community. The data pertains to unrelated individuals sequenced as part of various disease-specific and population genetic studies and serves as a reference set of allele frequencies for severe disease studies. This collection references variant information. forward: http://exac.broadinstitute.org/variant/${ac} institution: Exome Aggregation Consortium (ExAC), Cambridge, Massachusetts location: USA more: http://exac.broadinstitute.org/ name: ExAC Variant at Exome Aggregation Consortium pattern: ^\d{1,2}\-\d+\-[GATC]\-[GATC]$ prefixed: false primary: false probe: http://exac.broadinstitute.org/variant/22-46615880-T-C provider: provider_id: MIR:00100718 redirect: http://exac.broadinstitute.org/variant/$id sort_score: 4 state: 100:Up subject: phenotype; genome; human synonym: CPC test: 22-46615880-T-C type: scheme