442e433a90b25deb87f10e6cf1b7b608bb0a6d67 max Sat Sep 26 21:56:06 2026 -0700 sfariSparkWgs45kAsd: flag 25M insertions of non-human (oral bacteria) sequence as FILTER NonHumanIns and hide them by default; add SFARI SPARK 45k WGS to the combined tracks without those insertions and relabel the 12k pilot as SFARI SPARK iWGS v1.1 Pilot, refs #38424 diff --git src/hg/makeDb/trackDb/human/varFreqsBackground.html src/hg/makeDb/trackDb/human/varFreqsBackground.html index 56fdfc599b7..6ab74cc94ac 100644 --- src/hg/makeDb/trackDb/human/varFreqsBackground.html +++ src/hg/makeDb/trackDb/human/varFreqsBackground.html @@ -2,32 +2,35 @@
This track shows small variants (SNVs and short indels) seen in population reference cohorts and in unaffected or control individuals of disease-study cohorts, annotated with their predicted protein consequence and colored by severity. It is the background half of a matched pair: the companion Disease cohorts track shows the same kind of variants seen in affected or case individuals. Displaying the two together lets you see how common a variant is in the general/unaffected population compared with affected individuals. For the full list of contributing projects, see the SNV Frequencies collection page.
The background combines two kinds of data: the population/biobank reference cohorts (such as gnomAD HGDP+1kG, TOPMed, ALFA, HRC and the many national WGS projects), and the unaffected/control or unknown-phenotype arms of the disease-study cohorts (non-ASD family -members in SFARI SPARK WES/WGS, SCHEMA controls, and GREGoR unaffected/unknown -participants). Genotyping-array cohorts are not included. A variant that also appears in +members in SFARI SPARK WES, iWGS v1.1 Pilot and 45k WGS, SCHEMA controls, and GREGoR +unaffected/unknown participants). Genotyping-array cohorts are not included. From SFARI +SPARK 45k WGS, the 25 million insertions flagged as non-human sequence (FILTER NonHumanIns, +mostly oral bacteria DNA from the saliva samples, see the +subtrack's description) were left out. A variant that also appears in affected individuals is shown in both this track and the Disease cohorts track.
Variants are colored by their most severe predicted consequence:
| Color | Consequence class | Examples |
|---|---|---|
| Protein-truncating / loss-of-function | stop_gained, frameshift, splice_donor, splice_acceptor, stop_lost, start_lost | |
| Missense / in-frame | missense, inframe_insertion, inframe_deletion, protein_altering |