Rare variant test set.
Figures are generally photos, graphs and static images that would be represented in traditional pdf publications.
Variant sets were anchored on Transcription Start Sites (TSS) as defined by protein coding gene transcripts with validated RefSeq records. If a gene had multiple TSS, the 5'-most and 3'-most TSS were used as anchors. Accordingly, variants overlapping ARE within 200Kb of a TSS were pooled into a test set.