Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

traying to make a maf from an already annotated vcf #354

Open
javierAPC opened this issue Apr 18, 2024 · 0 comments
Open

traying to make a maf from an already annotated vcf #354

javierAPC opened this issue Apr 18, 2024 · 0 comments

Comments

@javierAPC
Copy link

javierAPC commented Apr 18, 2024

Hi im traying to get some visual summaries from a vcf i annotated with VEP, and for that i want to use maftools but firts i have to get a maf file, so i use this comand: perl vcf2maf.pl --input-vcf /home/victor/ensembl-vep/test_ann.vcf --output-maf tests/test.maf --tumor-id TUMOUR --normal-id NORMAL --inhibit-vep.
which gives me this errors

[.......]
[W::fai_get_val] Reference chr10:101362827-101362833 not found in FASTA file, returning empty sequence
[faidx] Failed to fetch sequence in chr10:101362827-101362833
ERROR: You're either using an outdated samtools, or --ref-fasta is not the same genome build as your --input-vcf. at vcf2maf.pl line 410.

the thing is that for VEP i use the cache option (it didn't let me connect to the database) and the GRCh38 version of the human genome i have is in.vep/homo_sapiens/111_GRCh38, so i changed the vcf2maf.pl to point at that directory where i store Homo_sapiens.GRCh38.dna.toplevel.fa.gz.
The vcf where also align to GRCh38.

Also before the test commands give this error
ERROR: Provided --ref-fasta is missing or empty: /home/victor/.vep/homo_sapiens/102_GRCh37
but with the new reference give me this error:

[.......]
WARNING: Reference allele G at 7:116412043 doesn't match A (flanking bps: CAC) from reference FASTA: /home/victor/.vep/homo_sapiens/111_GRCh38/Homo_sapiens.GRCh38.dna.toplevel.fa.gz
STATUS: Running VEP and writing to: tests/test.vep.vcf
ERROR: Cannot find VEP script under: /home/victor/miniconda3/bin

Uptade:
cheking the reference in the header of the vcf, teh path is reference=/nfs-1-c1/work/d1/0034c2fad733d8de3f89c93ed42117/reference_files/genome.fa, again it should also be GRCh38

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
None yet
Projects
None yet
Development

No branches or pull requests

1 participant