I have some lof variants and I want to know if they have already been detected in GNOMAD (I am essentially curious if my lof variants are novel).
In order to make this comparison to GNOMAD I have run my variants through LOFTEE and am getting some surprising results. The vast majority of my variants are marked as low confidence because they did not pass the
NON_CAN_SPLICE_SURR filter. With that said I have found variants on GNOMAD that are HC that are almost in the same position, and on the same transcript.
So does GNOMAD use the NON_CAN_SPLICE_SURR filter?
For example, from my data I have the following frameshift variant:
7:140373880-140373881 (GA/-) (ENST00000072869)
While in GNOMAD there is a frameshift variant on the same gene right next to it that does not have that same LoF_filter, and is marked as high confidence:
Furthermore, after looking at the GNOMAD flagship paper Extended Data Figure 5, there is no mention of the
Any help clarifying this up is appreciated :)