[ensembl-dev] Inconsistence output result found between running by cache and remote database
Kenneth Wong
kenneth at l3-bioinfo.com
Fri May 11 10:45:55 BST 2018
The scenario is described as below :
1. input.vcf :
##fileformat=VCFv4.0
#CHROM POS ID REF ALT QUAL FILTER INFO
2 31754395 . C T . . .
2. Execute below commands with versions 92
/* Run VEP by connecting to remote Ensembl DB */
./vep -i input.vcf -o vep-online.out\
--fork 4 --buffer_size 100\
--refseq --assembly "GRCh37"\
--database --port 3337 --db 92\
--hgvs --numbers --symbol --flag_pick --no_stats\
--species homo_sapiens\
--fields $VEP_FIELDS
/* Run VEP via local cache */
./vep -i input.vcf -o vep-cache.out\
--fork 4 --buffer_size 1000\
--offline --cache --dir_cache $VEP_CACHE_DIR\
--refseq --fasta ~/Homo_sapiens.GRCh37.75.dna.primary_assembly.fa\
--hgvs --numbers --symbol --flag_pick --no_stats\
--species homo_sapiens\
--fields $VEP_FIELDS\
--use_given_ref
, where
$VEP_FIELDS=Uploaded_variation, Location, Allele, Gene, SYMBOL,
SYMBOL_SOURCE, HGNC_ID, Feature, Consequence, Protein_position,
Amino_acids, Codons, HGVSc, HGVSp
$VEP_CACHE_DIR=~/.vep/cache/
3. Below discrepancies are found between the output file "vep-cache.out"
and "vep-online.out" (as attached)
vep-cache.out :
- Amino_acids = R/Q
- Codons = cGa/cAa
- HGVSp = NP_000339.2:p.Arg227Gln
vep-online.out :
- Amino_acids = E/K
- Codons = Gag/Aag
- HGVSp = NP_000339.2:p.Glu227Lys
Assume the result in vep-cache.out is correct, would you please advice
what's wrong in the parameters when running VEP via remote database?
Many thanks for your help!
Kenneth Wong
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