UCSC Genome Browser

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The UCSC Genome Browser is a public, freely available, open-source web-based graphical viewer for displaying genome sequences and their annotations.

rs4986893, a CYP2C19 stop-gained variant common in East Asian populations. The mouseover ranks ToMMo Japan, KOVA Korea, and WBBC China at the top, well above the 1.6% pooled background AF.

MPRA Base elements and MPRAVarDB variants at the TERT promoter (chr5, GRCh38/hg38). MPRA Base (top) shows reporter activity for melanoma risk variants tested in HEK293FT and UACC903 cells (Choi et al., 2020). MPRAVarDB (bottom) highlights high-confidence allelic effects from saturation mutagenesis of the TERT promoter (Kircher et al., 2019).

PrimateAI-3D and PromoterAI at the start of HBB on hg38 (chr11:5,226,883-5,227,212). PrimateAI-3D scores every coding missense variant as red (pathogenic) or blue (benign), while the four PromoterAI per-allele bigWig subtracks score every possible non-coding substitution in the 5′ UTR and proximal promoter just upstream of the HBB start codon.

Heatmap display in the UCSC Genome Browser

Items in the NCBI RefSeq Historical track for hg38 has all items that begin with "NM" are highlighted red.

Mouseover for "BRCA1 G>A"