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variant_effect_predictor.cwl
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variant_effect_predictor.cwl
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cwlVersion: v1.0
class: CommandLineTool
doc: |
For more info see -> http://uswest.ensembl.org/info/docs/tools/vep/script/vep_options.html
VEP determines the effect of your variants (SNPs, insertions, deletions,
CNVs or structural variants) on genes, transcripts, and protein sequence,
as well as regulatory regions. Simply input the coordinates of your variants
and the nucleotide changes to find out -
* genes and transcripts affected by the variants
* location of the variants (e.g. upstream of a transcript, in coding sequence, in non-coding RNA, in regulatory regions)
* consequence of your variants on the protein sequence (e.g. stop gained, missense, stop lost, frameshift)
* known variants that match yours, and associated minor allele frequencies from the 1000 Genomes Project
* SIFT and PolyPhen scores for changes to protein sequence
* And more!
requirements:
DockerRequirement:
dockerPull: "opengenomics/variant-effect-predictor"
baseCommand:
- "variant_effect_predictor.pl"
arguments:
- "--no_progress"
- "--no_stats"
- "--offline"
inputs:
# basic options
everything:
type: boolean
doc: |
Shortcut flag to switch on all of the following -
--sift b, --polyphen b, --ccds, --uniprot, --hgvs, --symbol, --numbers,
--domains, --regulatory, --canonical, --protein, --biotype, --uniprot,
--tsl, --appris, --gene_phenotype --af, --af_1kg, --af_esp, --af_exac,
--max_af, --pubmed, --variant_class
inputBinding:
prefix: "--everything"
fork:
type: int?
doc: |
Enable forking, using the specified number of forks. Forking can
dramatically improve the runtime of the script. Not used by default
inputBinding:
prefix: "--fork"
# input options
inputFile:
type: File
doc: "Input file name"
inputBinding:
prefix: "--input_file"
format:
type: string?
doc: |
Input file format - one of ensembl, vcf, hgvs, id.
By default, the script auto-detects the input file format. Using this
option you can force the script to read the input file as Ensembl, VCF,
IDs or HGVS. Auto-detects format by default
inputBinding:
prefix: "--format"
outputFile:
type: File
doc: "Output file name"
default: "variant_effect_output.txt"
inputBinding:
prefix: "--output_file"
species:
type: string?
doc: |
Species for your data. This can be the latin name e.g. homo_sapiens or
any Ensembl alias e.g. mouse. Specifying the latin name can speed up
initial database connection as the registry does not have to load all
available database aliases on the server. Default = "homo_sapiens"
inputBinding:
prefix: "--species"
assembly:
type: string?
doc: |
Select the assembly version to use if more than one available. If using
the cache, you must have the appropriate assemblys cache file installed.
If not specified and you have only 1 assembly version installed, this will
be chosen by default. Default = use found assembly version
inputBinding:
prefix: "--assembly"
# cache options
dirCache:
type: Directory
doc: "Specify the cache directory to use"
inputBinding:
prefix: "--dir_cache"
dirPlugins:
type: Directory?
doc: "Specify the plugin directory to use"
inputBinding:
prefix: "--dir_plugins"
fasta:
type:
- "null"
- File
- Directory
doc: |
Specify a FASTA file or a directory containing FASTA files to use to look
up reference sequence. The first time you run the script with this
parameter an index will be built which can take a few minutes.
This is required if fetching HGVS annotations (--hgvs) or checking
reference sequences (--check_ref) in offline mode (--offline),
and optional with some performance increase in cache mode (--cache).
See documentation for more details. Not used by default
inputBinding:
prefix: "--fasta"
refseq:
type: boolean
doc: |
Specify this option if you have installed the RefSeq cache in order for
VEP to pick up the alternate cache directory. This cache contains transcript
objects corresponding to RefSeq transcripts (to include CCDS and Ensembl ESTs
also, use --all_refseq). Consequence output will be given relative to these
transcripts in place of the default Ensembl transcripts (see documentation)
inputBinding:
prefix: "--refseq"
merged:
type: boolean
doc: |
Use the merged Ensembl and RefSeq cache. Consequences are flagged with the
SOURCE of each transcript used.
inputBinding:
prefix: "--merged"
cacheVersion:
type: int?
doc: |
Use a different cache version than the assumed default (the VEP version).
This should be used with Ensembl Genomes caches since their version numbers
do not match Ensembl versions. For example, the VEP/Ensembl version may be
88 and the Ensembl Genomes version 35. Not used by default
inputBinding:
prefix: "--cache_version"
bufferSize:
type: int?
doc: |
Sets the internal buffer size, corresponding to the number of variants that
are read in to memory simultaneously. Set this lower to use less memory at
the expense of longer run time, and higher to use more memory with a faster run time.
Default = 5000
inputBinding:
prefix: "--buffer_size"
# Other annotation sources
plugin:
doc: |
Use named plugin. Plugin modules should be installed in the Plugins
subdirectory of the VEP cache directory (defaults to $HOME/.vep/).
Multiple plugins can be used by supplying the --plugin flag multiple times.
See plugin documentation. Not used by default
type:
- "null"
- type: array
items: string
inputBinding:
prefix: "--plugin"
gff:
type: File?
doc: |
Use GFF transcript annotations in [filename] as an annotation source.
Requires a FASTA file of genomic sequence. Not used by default
inputBinding:
prefix: "--gff"
gtf:
type: File?
doc: |
Use GTF transcript annotations in [filename] as an annotation source.
Requires a FASTA file of genomic sequence. Not used by default
inputBinding:
prefix: "--gtf"
bam:
type: File?
doc: |
ADVANCED Use BAM file of sequence alignments to correct transcript models
not derived from reference genome sequence. Used to correct RefSeq transcript
models. Not used by default
inputBinding:
prefix: "--bam"
# Output options
variantClass:
type: boolean
doc: "Output the Sequence Ontology variant class. Not used by default"
inputBinding:
prefix: "--variant_class"
sift:
type:
- "null"
- type: enum
symbols:
- "p"
- "s"
- "b"
doc: |
Species limited SIFT predicts whether an amino acid substitution affects
protein function based on sequence homology and the physical properties of
amino acids. VEP can output the prediction term (p), score (s) or both (b).
Not used by default
inputBinding:
prefix: "--sift"
polyphen:
type:
- "null"
- type: enum
symbols:
- "p"
- "s"
- "b"
doc: |
Human only PolyPhen is a tool which predicts possible impact of an amino acid
substitution on the structure and function of a human protein using straightforward
physical and comparative considerations. VEP can output the
prediction term (p), score (s) or both (b). VEP uses the humVar score by
default - use --humdiv to retrieve the humDiv score. Not used by default
inputBinding:
prefix: "--polyphen"
nearest:
type:
- "null"
- type: enum
symbols:
- "transcript"
- "gene"
- "symbol"
doc: |
Retrieve the transcript or gene with the nearest protein-coding transcription
start site (TSS) to each input variant. Use transcript to retrieve the
transcript stable ID, gene to retrieve the gene stable ID, or symbol to
retrieve the gene symbol. Note that the nearest TSS may not belong to a
transcript that overlaps the input variant, and more than one may be reported
in the case where two are equidistant from the input coordinates.
inputBinding:
prefix: "--nearest"
humandiv:
type: boolean
doc: |
Human only Retrieve the humDiv PolyPhen prediction instead of the default
humVar. Not used by default
inputBinding:
prefix: "--humandiv"
genePhenotype:
type: boolean
doc: |
Indicates if the overlapped gene is associated with a phenotype, disease
or trait. See list of phenotype sources. Not used by default
inputBinding:
prefix: "--gene_phenotype"
regulatory:
type: boolean
doc: |
Look for overlaps with regulatory regions. The script can also call if a
variant falls in a high information position within a transcription factor
binding site. Output lines have a Feature type of RegulatoryFeature or
MotifFeature. Not used by default
inputBinding:
prefix: "--regulatory"
cellType:
type: string[]?
doc: |
Report only regulatory regions that are found in the given cell type(s).
Can be a single cell type or a comma-separated list. The functional type in
each cell type is reported under CELL_TYPE in the output. Not used by default
inputBinding:
prefix: "--cell_type"
itemSeparator: ","
individual:
type: string[]?
doc: |
Consider only alternate alleles present in the genotypes of the specified
individual(s). May be a single individual, a comma-separated list or all
to assess all individuals separately. Individual variant combinations
homozygous for the given reference allele will not be reported. Each
individual and variant combination is given on a separate line of output.
Only works with VCF files containing individual genotype data; individual
IDs are taken from column headers. Not used by default
inputBinding:
prefix: "--individual"
phased:
type: boolean
doc: |
Force VCF genotypes to be interpreted as phased. For use with plugins that
depend on phased data. Not used by default
inputBinding:
prefix: "--phased"
alleleNumber:
type:
- "null"
- type: enum
symbols:
- "1"
- "2"
doc: |
Identify allele number from VCF input, where 1 = first ALT allele,
2 = second ALT allele etc. Useful when using --minimal Not used by default
inputBinding:
prefix: "--allele_number"
totalLength:
type: boolean
doc: |
Give cDNA, CDS and protein positions as Position/Length. Not used by default
inputBinding:
prefix: "--total_length"
numbers:
type: boolean
doc: |
Adds affected exon and intron numbering to to output.
Format is Number/Total. Not used by default
inputBinding:
prefix: "--numbers"
domains:
type: boolean
doc: |
Adds names of overlapping protein domains to output. Not used by default
inputBinding:
prefix: "--domains"
noEscape:
type: boolean
doc: "Don't URI escape HGVS strings. Default = escape"
inputBinding:
prefix: "--no_escape"
keepCSQ:
type: boolean
doc: "Don't overwrite existing CSQ entry in VCF INFO field. Overwrites by default"
inputBinding:
prefix: "--keep_csq"
vcfInfoField:
type: string?
doc: |
Change the name of the INFO key that VEP write the consequences to in its
VCF output. Use ANN for compatibility with other tools such as snpEff.
Default = CSQ
inputBinding:
prefix: "--vcf_info_field"
terms:
type:
- "null"
- type: enum
symbols:
- "ensembl"
- "so"
doc: |
The type of consequence terms to output. The Ensembl terms are described here.
The Sequence Ontology is a joint effort by genome annotation centres to
standardise descriptions of biological sequences. Default = SO
inputBinding:
prefix: "--terms"
# Identifiers
hgvs:
type: boolean
doc: |
Add HGVS nomenclature based on Ensembl stable identifiers to the output. Both
coding and protein sequence names are added where appropriate. To generate HGVS
identifiers when using --cache or --offline you must use a FASTA file and --fasta.
HGVS notations given on Ensembl identifiers are versioned. Not used by default
inputBinding:
prefix: "--hgvs"
hgvsg:
type: boolean
doc: |
Add genomic HGVS nomenclature based on the input chromosome name. To generate
HGVS identifiers when using --cache or --offline you must use a FASTA file and
--fasta. Not used by default
inputBinding:
prefix: "--hgvsg"
shiftHgvs:
type:
- "null"
- type: enum
symbols:
- "0"
- "1"
doc: |
Enable or disable 3-prime shifting of HGVS notations. When enabled, this causes
ambiguous insertions or deletions (typically in repetetive sequence tracts) to be
shifted to their most 3-prime possible coordinates (relative to the transcript
sequence and strand) before the HGVS notations are calculated; the flag
HGVS_OFFSET is set to the number of bases by which the variant has shifted,
relative to the input genomic coordinates. Disabling retains the original input
coordinates of the variant. Default = 1 (shift)
inputBinding:
prefix: "--shift_hgvs"
protein:
type: boolean
doc: "Add the Ensembl protein identifier to the output where appropriate. Not used by default"
inputBinding:
prefix: "--protein"
symbol:
type: boolean
doc: "Adds the gene symbol (e.g. HGNC) (where available) to the output. Not used by default"
inputBinding:
prefix: "--symbol"
ccds:
type: boolean
doc: "Adds the CCDS transcript identifer (where available) to the output. Not used by default"
inputBinding:
prefix: "--ccds"
uniprot:
type: boolean
doc: |
Adds best match accessions for translated protein products from three
UniProt-related databases (SWISSPROT, TREMBL and UniParc) to the output.
Not used by default
inputBinding:
prefix: "--uniprot"
tsl:
type: boolean
doc: |
Adds the transcript support level for this transcript to the output.
NB - not available for GRCh37. Not used by default
inputBinding:
prefix: "--tsl"
appris:
type: boolean
doc: |
Adds the APPRIS isoform annotation for this transcript to the output.
NB - not available for GRCh37. Not used by default
inputBinding:
prefix: "--appris"
canonical:
type: boolean
doc: |
Adds a flag indicating if the transcript is the canonical transcript for
the gene. Not used by default
inputBinding:
prefix: "--canonical"
biotype:
type: boolean
doc: |
Adds the biotype of the transcript or regulatory feature. Not used by default
inputBinding:
prefix: "--biotype"
xrefRefseq:
type: boolean
doc: |
Output aligned RefSeq mRNA identifier for transcript. NB - theRefSeq and
Ensembl transcripts aligned in this way MAY NOT, AND FREQUENTLY WILL NOT,
match exactly in sequence, exon structure and protein product. Not used by default
inputBinding:
prefix: "--xref_refseq"
synonyms:
type: File?
doc: |
Load a file of chromosome synonyms. File should be tab-delimited with the primary
identifier in column 1 and the synonym in column 2. Synonyms are used bi-directionally
so columns may be switched. Synoyms allow different chromosome identifiers to be
used in the input file and any annotation source (cache, database, GFF, custom
file, FASTA file). Not used by default
inputBinding:
prefix: "--synonyms"
# Co-located variants
checkExisting:
type: boolean
doc: |
Checks for the existence of known variants that are co-located with your input.
By default the alleles are compared - to compare only coordinates, use --no_check_alleles.
inputBinding:
prefix: "--check_existing"
excludeNullAlleles:
type: boolean
doc: |
Do not include variants with unknown alleles when checking for co-located variants.
The human variation database contains variants from HGMD and COSMIC for which the
alleles are not publically available; by default these are included when using
--check_existing, use this flag to exclude them. Not used by default
inputBinding:
prefix: "--exclude_null_alleles"
noCheckAlleles:
type: boolean
doc: |
When checking for existing variants, by default VEP only reports a co-located
variant if none of the input alleles are novel. For example, if the user input
has alleles A/G, and an existing co-located variant has alleles A/C, the
co-located variant will not be reported. Strand is also taken into account -
in the same example, if the user input has alleles T/G but on the negative
strand, then the co-located variant will be reported since its alleles match
the reverse complement of user input. Use this flag to disable this behaviour
and compare using coordinates alone. Not used by default
inputBinding:
prefix: "--no_check_alleles"
af:
type: boolean
doc: |
Add the global allele frequency (AF) from 1000 Genomes Phase 3 data for any
known co-located variant to the output. For this and all --af_* flags, the
frequency reported is for the input allele only, not necessarily the
non-reference or derived allele. Not used by default
inputBinding:
prefix: "--af"
maxAf:
type: boolean
doc: |
Report the highest allele frequency observed in any population from 1000
genomes, ESP or ExAC. Not used by default
inputBinding:
prefix: "--max_af"
af1kg:
type: boolean
doc: |
Add allele frequency from continental populations (AFR,AMR,EAS,EUR,SAS) of
1000 Genomes Phase 3 to the output. Must be used with --cache. Not used by default
inputBinding:
prefix: "--af_1kg"
afExac:
type: boolean
doc: |
Include allele frequency from ExAC project populations. Must be used with --cache Not used by default
inputBinding:
prefix: "--af_exac"
afEsp:
type: boolean
doc: |
Include allele frequency from NHLBI-ESP populations. Must be used with --cache Not used by default
inputBinding:
prefix: "--af_esp"
pubmed:
type: boolean
doc: |
Report Pubmed IDs for publications that cite existing variant. Must be used with --cache. Not used by default
inputBinding:
prefix: "--pubmed"
failed:
type:
- "null"
- type: enum
symbols:
- "0"
- "1"
doc: |
When checking for co-located variants, by default the script will exclude
variants that have been flagged as failed. Set this flag to include such
variants. Default = 0 (exclude)
inputBinding:
prefix: "--failed"
# Data format options
vcf:
type: boolean
doc: "Write output in VCF format"
inputBinding:
prefix: "--vcf"
tab:
type: boolean
doc: "Write output in tab-delimited format"
inputBinding:
prefix: "--tab"
json:
type: boolean
doc: "Write output in JSON format"
inputBinding:
prefix: "--json"
compressOutput:
type:
- "null"
- type: enum
symbols:
- "gzip"
- "bgzip"
doc: "Writes output compressed using either gzip or bgzip. Not used by default"
inputBinding:
prefix: "--compress_output"
fields:
type: string[]?
doc: |
Configure the output format using a comma separated list of fields. Fields
may be those present in the default output columns, or any of those that appear
in the Extra column (including those added by plugins or custom annotations).
Output remains tab-delimited. Can only be used with tab or VCF format output.
Not used by default
inputBinding:
prefix: "--fields"
itemSeparator: ","
minimal:
type: boolean
doc: |
Convert alleles to their most minimal representation before consequence
calculation i.e. sequence that is identical between each pair of reference
and alternate alleles is trimmed off from both ends, with coordinates adjusted
accordingly. Note this may lead to discrepancies between input coordinates
and coordinates reported by VEP relative to transcript sequences; to avoid
issues, use --allele_number and/or ensure that your input variants have unique
identifiers. The MINIMISED flag is set in the VEP output where relevant.
Not used by default
inputBinding:
prefix: "--minimal"
# Filtering and QC options
gencodeBasic:
type: boolean
doc: |
Limit your analysis to transcripts belonging to the GENCODE basic set. This
set has fragmented or problematic transcripts removed. Not used by default
inputBinding:
prefix: "--gencode_basic"
allRefseq:
type: boolean
doc: |
When using the RefSeq or merged cache, include e.g. CCDS and Ensembl EST
transcripts in addition to those from RefSeq (see documentation).
Only works when using --refseq or --merged
inputBinding:
prefix: "--all_refseq"
excludePredicted:
type: boolean
doc: |
When using the RefSeq or merged cache, exclude predicted transcripts (i.e.
those with identifiers beginning with XM_ or XR_).
inputBinding:
prefix: "--exclude_predicted"
checkRef:
type: boolean
doc: |
Force the script to check the supplied reference allele against the sequence
stored in the Ensembl Core database or supplied FASTA file. Lines that do
not match are skipped. Not used by default
inputBinding:
prefix: "--check_ref"
dontSkip:
type: boolean
doc: "Don't skip input variants that fail validation, e.g. those that fall on unrecognised sequences"
inputBinding:
prefix: "--dont_skip"
allowNonVariant:
type: boolean
doc: |
When using VCF format as input and output, by default VEP will skip
non-variant lines of input (where the ALT allele is null). Enabling this
option the lines will be printed in the VCF output with no consequence data added.
inputBinding:
prefix: "--allow_non_variant"
chr:
type: string[]?
doc: |
Select a subset of chromosomes to analyse from your file. Any data not on
this chromosome in the input will be skipped. The list can be comma separated,
with - characters representing an interval. For example, to include chromosomes
1, 2, 3, 10 and X you could use --chr 1-3,10,X. Not used by default
inputBinding:
prefix: "--chr"
itemSeparator: ","
codingOnly:
type: boolean
doc: "Only return consequences that fall in the coding regions of transcripts. Not used by default"
inputBinding:
prefix: "--coding_only"
noIntergenic:
type: boolean
doc: "Do not include intergenic consequences in the output. Not used by default"
inputBinding:
prefix: "--no_intergenic"
pick:
type: boolean
doc: |
Pick once line or block of consequence data per variant, including transcript-specific
columns. Consequences are chosen according to the criteria described here, and the
order the criteria are applied may be customised with --pick_order. This is the
best method to use if you are interested only in one consequence per variant.
Not used by default
inputBinding:
prefix: "--pick"
pickAllele:
type: boolean
doc: |
Like --pick, but chooses one line or block of consequence data per variant allele.
Will only differ in behaviour from --pick when the input variant has multiple
alternate alleles. Not used by default
inputBinding:
prefix: "--pick_allele"
perGene:
type: boolean
doc: |
Output only the most severe consequence per gene. The transcript selected is
arbitrary if more than one has the same predicted consequence. Uses the same
ranking system as --pick. Not used by default
inputBinding:
prefix: "--per_gene"
pickAlleleGene:
type: boolean
doc: |
Like --pick_allele, but chooses one line or block of consequence data per
variant allele and gene combination. Not used by default
inputBinding:
prefix: "--pick_allele_gene"
flagPick:
type: boolean
doc: |
As per --pick, but adds the PICK flag to the chosen block of consequence data
and retains others. Not used by default
inputBinding:
prefix: "--flag_pick"
flagPickAllele:
type: boolean
doc: |
As per --pick_allele, but adds the PICK flag to the chosen block of consequence
data and retains others. Not used by default
inputBinding:
prefix: "--flag_pick_allele"
flagPickAlleleGene:
type: boolean
doc: |
As per --pick_allele_gene, but adds the PICK flag to the chosen block of
consequence data and retains others. Not used by default
inputBinding:
prefix: "--flag_pick_allele_gene"
pickOrder:
type: string[]?
doc: |
Customise the order of criteria applied when choosing a block of annotation
data with e.g. --pick. Valid criteria are - canonical,appris,tsl,biotype,ccds,rank,length
inputBinding:
prefix: "--pick_order"
itemSeparator: ","
mostSevere:
type: boolean
doc: |
Output only the most severe consequence per variant. Transcript-specific
columns will be left blank. Not used by default
inputBinding:
prefix: "--most_severe"
summary:
type: boolean
doc: |
Output only a comma-separated list of all observed consequences per variant.
Transcript-specific columns will be left blank. Not used by default
inputBinding:
prefix: "--summary"
filterCommon:
type: boolean
doc: |
Shortcut flag for the filters below - this will exclude variants that have a
co-located existing variant with global AF > 0.01 (1%). May be modified using
any of the following freq_* filters. Not used by default
inputBinding:
prefix: "--filter_common"
checkFrequency:
type: boolean
doc: |
Turns on frequency filtering. Use this to include or exclude variants based
on the frequency of co-located existing variants in the Ensembl Variation database.
You must also specify all of the --freq_* flags below. Frequencies used in
filtering are added to the output under the FREQS key in the Extra field.
Not used by default
inputBinding:
prefix: "--check_frequency"
freqPop:
type:
- "null"
- type: enum
symbols:
- "1KG_ALL"
- "1KG_AFR"
- "1KG_AMR"
- "1KG_EAS"
- "1KG_EUR"
- "1KG_SAS"
- "ESP_AA"
- "ESP_EA"
- "ExAC"
- "ExAC_Adj"
- "ExAC_AFR"
- "ExAC_AMR"
- "ExAC_EAS"
- "ExAC_FIN"
- "ExAC_NFE"
- "ExAC_SAS"
- "ExAC_OTH"
doc: "Name of the population to use in frequency filter."
inputBinding:
prefix: "--freq_pop"
freqFreq:
type: float?
doc: "Allele frequency to use for filtering. Must be a float value between 0 and 1"
inputBinding:
prefix: "--freq_freq"
freqGtLt:
type:
- "null"
- type: enum
symbols:
- "gt"
- "lt"
doc: |
Specify whether the frequency of the co-located variant must be greater
than (gt) or less than (lt) the value specified with --freq_freq
inputBinding:
prefix: "--freq_gt_lt"
freqFilter:
type:
- "null"
- type: enum
symbols:
- "exclude"
- "include"
doc: "Specify whether to exclude or include only variants that pass the frequency filter"
inputBinding:
prefix: "--freq_filter"
outputs:
annotatedVCF:
type: File
outputBinding:
glob: $(inputs.outputFile)