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LOFTEE doesnt actually annotate Loss-of-function variants

Now I'm trying to use LOFTEE for loss-of-function variant annotation. Since LOFTEE is used in combination with VEP,

my command line is using the VEP example input:

./vep -i examples/homo_sapiens_GRCh37.vcf --cache -offline --force_overwrite --plugin LoF,loftee_path:loftee --dir_plugins loftee

I got the annotation by VEP indeed.

But the problem is that LOFTEE doesn't annotate at all. Some result instruction lines written like this were in the output files:

##LoF : Loss-of-function annotation (HC = High Confidence; LC = Low Confidence)
##LoF_filter : Reason for LoF not being HC
## LoF_flags : Possible warning flags for LoF
## LoF_info : Info used for LoF annotation

But the results actually doesn't contain these LOFTEE annotations.

Why?

genome snp vep ensembl

Add added VEP and Ensembl tags to attract the Ensembl people.

Hi,

The LOFTEE plugin is not developed or maintained by Ensembl, so any issues you have running it should be raised with the author via their github page, https://github.com/konradjk/loftee

However, I noticed that a you are using the GRCh37 reference assembly. Please check you have installed / configured the plugin + plugin files correctly since different LOFTEE code+ files set are needed for GRCh37 vs GRCh38.

If you are still encountering issues, please send a sample of your input VCF to helpdesk[at]ensembl.org. Also, you could consider checking your input data using the REST API, which has the LOFTEE plugin: http://grch37.rest.ensembl.org/documentation/info/vep_region_get

Best wishes

Ben Ensembl Helpdesk

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