e4696ced7edf4d0a2a995f203a751a3782cc2f16 lrnassar Fri May 29 15:00:59 2026 -0700 Add EVA SNP Release 9 — unified pipeline for native + GenArk contributed tracks. refs #37517 Adds the unified evaSnp9.py pipeline at src/hg/makeDb/scripts/evaSnp/evaSnp9.py that builds both native UCSC db bigBeds and GenArk contributed bigBeds from one driver, replacing the two separate v8 scripts (evaSnp8.py + evaSnpGenArk.py). Built 40 native + 115 contributed tracks for v9. trackDb: evaSnp9 subtrack added to the evaSnpContainer composite with the new SNV/indel/MNV varClass labels, searchTable stanza, and parent=on/visibility=dense defaults; evaSnp8 left on per QA preference. evaSnpContainer.html: transition note explaining the v9 SO-label refresh (SNV/deletion/insertion/indel/MNV/sequence_alteration replacing the legacy substitution/delins/multipleNucleotideVariant labels in v3-v8) and the new single-most-severe ucscClass convention; SO term list updated to dual-label each entry; download example URL bumped to evaSnp9.bb. Makedoc at src/hg/makeDb/doc/evaSnp9.txt documents the unified build, deploy, and per-clade GenArk make steps. diff --git src/hg/makeDb/trackDb/evaSnp.ra src/hg/makeDb/trackDb/evaSnp.ra index c4bae15c13a..26a2a291414 100644 --- src/hg/makeDb/trackDb/evaSnp.ra +++ src/hg/makeDb/trackDb/evaSnp.ra @@ -142,15 +142,41 @@ filterValues.varClass deletion|Deletion,delins|Deletion-Insertion,insertion|Insertion,multipleNucleotideSubstitution|Multiple nucleotide substitution,substitution|Substitution,sequence alteration|Sequence alteration filterLabel.varClass Variant class from EVA SO term filterLabel.ucscClass Functional effect per UCSC Variant Annotation filterValues.ucscClass downstream_gene_variant|Downstream gene variant,upstream_gene_variant|Upstream gene variant,intron_variant|Intron variant,NMD_transcript_variant|Nonsense-mediated mRNA decay (NMD) variant,5_prime_UTR_variant|5 prime UTR variant,3_prime_UTR_variant|3 prime UTR variant,missense_variant|Missense variant,synonymous_variant|Synonymous variant,non_coding_transcript_exon_variant|Non-coding transcript exon variant,no_sequence_alteration|No sequence alteration,splice_region_variant|Splice region variant,frameshift_variant|Frameshift variant,stop_gained|Stop gained,splice_acceptor_variant|Splice acceptor variant,inframe_deletion|Inframe deletion,inframe_insertion|Inframe insertion,splice_donor_variant|Splice donor variant,coding_sequence_variant|Coding sequence variant,initiator_codon_variant|Initiator codon variant,stop_lost|Stop lost,stop_retained_variant|Stop retained variant,intergenic_variant|Intergenic variant filterType.ucscClass multipleListOnlyOr filterValues.itemRgb 255,,0,,0|Protein-altering and splice variants,0,,128,,0|Synonymous variants,0,,0,,255|Non-coding transcripts or UTR variants,0,,0,,0|Intergenic and intronic variants filterLabel.itemRgb General variant types by color grouping maxWindowCoverage 250000 maxItems 1000000 html evaSnpContainer searchTable evaSnp8 searchType bigBed searchMethod exact padding 2 + +track evaSnp9 +shortLabel EVA SNP Release 9 +longLabel Short Genetic Variants from European Variant Archive Release 9 +type bigBed 9 + +parent evaSnpContainer on +visibility dense +itemRgb on +mouseOver <b>Ref/Alt allele(s)</b>: $ref>$alt<br> <b>Var type</b>: $ucscClass<br> <b>AA change</b>: $aaChange +bigDataUrl /gbdb/$D/bbi/evaSnp9.bb +url https://www.ebi.ac.uk/eva/?variant&accessionID=$$ +filterValues.varClass SNV|SNV,deletion|Deletion,insertion|Insertion,indel|Indel,MNV|MNV,sequence_alteration|Sequence alteration +filterLabel.varClass Variant class from EVA SO term +filterLabel.ucscClass Functional effect per UCSC Variant Annotation +filterValues.ucscClass downstream_gene_variant|Downstream gene variant,upstream_gene_variant|Upstream gene variant,intron_variant|Intron variant,NMD_transcript_variant|Nonsense-mediated mRNA decay (NMD) variant,5_prime_UTR_variant|5 prime UTR variant,3_prime_UTR_variant|3 prime UTR variant,missense_variant|Missense variant,synonymous_variant|Synonymous variant,non_coding_transcript_exon_variant|Non-coding transcript exon variant,no_sequence_alteration|No sequence alteration,splice_region_variant|Splice region variant,frameshift_variant|Frameshift variant,stop_gained|Stop gained,splice_acceptor_variant|Splice acceptor variant,inframe_deletion|Inframe deletion,inframe_insertion|Inframe insertion,splice_donor_variant|Splice donor variant,coding_sequence_variant|Coding sequence variant,initiator_codon_variant|Initiator codon variant,stop_lost|Stop lost,stop_retained_variant|Stop retained variant,intergenic_variant|Intergenic variant +filterType.ucscClass multipleListOnlyOr +filterValues.itemRgb 255,,0,,0|Protein-altering and splice variants,0,,128,,0|Synonymous variants,0,,0,,255|Non-coding transcripts or UTR variants,0,,0,,0|Intergenic and intronic variants +filterLabel.itemRgb General variant types by color grouping +maxWindowCoverage 250000 +maxItems 1000000 +html evaSnpContainer + +searchTable evaSnp9 +searchType bigBed +searchMethod exact +padding 2