Variants for chromosome X, Y, and M are currently not available in this version. We are working on adding support for these chromosomes in a future release. Please contact the GREGoR Data Coordinating Center if you have any questions. Information about accessing the GREGoR data can be found at the consortium website.
This variant browser summarizes genetic variation (single nucleotide variants and short insertions and deletions) observed in whole genome sequencing data from 1,420 individuals in the Genomics Research to Elucidate the Genetics of Rare diseases (GREGoR) Consortium. This data was contributed by the GREGoR member Research Centers, and subsequently harmonized by the GREGoR Data Coordinating Center as documented in the supporting methods documentation.
The goal of this variant browser is to provide variant site information as an intermediate step, prior to submitting a Data Access Request to controlled access GREGoR Data stored on the AnVIL platform. This publicly available resource includes genomic coordinate, reference and alternate alleles, allele counts and allele frequency information as well as additional quality and functional annotations.