Variant track
A variant track displays VCF records, one glyph per call, with one row per sample under them when the VCF has genotypes, and a click opens a per-sample genotype table. The track menu's Display types switches to marks, which join each breakend to its mate. Color by buckets variants by SnpEff/VEP consequence severity or SV type with one click, or colors by any INFO field via a jexl expression (e.g. minor allele frequency).
Display types
In a linear genome view, the track menu's Display types switches between:
- Variant display, the default: the records, and under them one row per sample, each variant at its genomic position, or, with Layout → Genotype matrix, in equal-width columns so shared haplotypes and runs of homozygosity show whatever the spacing. See the sample rows guide
- Marks draws the variants as the marks you configure, and over an SV VCF joins each breakend to its mate with nothing configured. See links
For an LD heatmap, run PLINK over the genotypes and load its pairwise r² output as a separate track, as in the linkage disequilibrium tutorial.
In a circular view the same track gives a chord display, drawing breakends as chords across the ring.
Variant widget
Clicking a variant opens a widget with a per-sample genotype table.
The SAMPLES section lists every sample's genotype (GT) and other per-sample fields, with a plain-text or regex filter box per column. Type '1' in the genotype filter to keep only samples with the first alternate allele (0|1 or 1|1). The 1000 Genomes SV tutorial filters a trio's genotypes this way to check whether a call is inherited.
Coloring variants
Color by in the track menu:
- Consequence impact buckets each variant by the severity of its most severe
predicted consequence, read from SnpEff
ANNor VEPCSQin the INFO field: HIGH red, MODERATE orange, LOW yellow, MODIFIER grey - SV type colors by structural-variant class, with fixed colors per class
and an ascending rainbow for copy-number alleles (
<CN0>,<CN1>, ...) - Field... takes a field name and colors by its value, one palette color per
value, with a key: a record field such as
typeorFILTER, or a path into INFO such asINFO.SVCLASS
The presets draw a dismissable color key naming the classes present, and color the genotype cells too, where consequence impact and SV type list the terms in each tier and the color per class.
For anything else, set the display's encoding.color to a
jexl expression. The variants plugin registers
helpers for minor allele frequency, missingness and consequence impact; see
helper functions for jexl color expressions.
See also
- User guide: Variant sample rows
- User guide: Structural variant visualization
- User guide: Alignments track
- User guide: GWAS / Manhattan track
- Config guide: Variant track configuration
- Config guide: Customizing feature colors