VEP and loftee. How to get the GT value
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3.4 years ago
Manuel ▴ 50

I am new working with annotation.

My final goal is to identify high confident lost of function SNPs and indels. To do so I am using this code

 vep\
    --input_file /PATH/machine_learning/Manuel/LOEUF_tool/Data_output/tmp/filtered SNPS.vcf\
    --format vcf\
    --offline\
   -- cache\
   -- cache version 98\
   --assembly GRCH38\
   --dir_ cache /resources/data/vep.caches/from.pegasus/98/.vep\
   --verbose\
   --no_stats
   --fasta /public data resources/reference/GRCH38/GRCh38Decoy no alt. fa\
   --plugin LoF,Loftee path:S{LOFTEE38}, human_ancestor_fa:${LOFTEE38HA}, gerp_bigwig:${LOFTEE38GERP}, conservation_file:${LOFTEE38SQL}\
   --force overwrite\
   --output_file /PATH/machine_learning/Manuel/LOEUF_tool/Data_output/tmp/VEP_SNPS_annotated.tsv

Loftee filters and takes only high confident variants and provides a table like that (header and the first 2 variants)

 #Uploaded_variation Location Allele Gene Feature Feature_type Consequence CDNA_position CDS_position Protein_position Amino_acids Codons Existing_variation Extra
chrl_13243448 G/A chrl:13243448AENSGO0000250894 ENSTO0000504262 Transcript upstream_gene_variant IMPACT=MODIFIER;DISTANCE=2415;STRAND=1
rs3901679 chrl:16575173 ENSGO0000219481 ENSTO0000392963 Transcript3prime UTR variant, NMD transcript variant 1718 IMPACT=MODIFIER;STRAND=-1

With this, I miss the GT value. I have read that if you specify --vcf, variants are annotated with the vcf file format, but this is part of an application and if I change this, this will give me a lot of work to do.

Is there anything I can do to get GT for example, in a new column?

loftee VEP • 604 views
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