Table 18. COSMIC missing variants by the combination of variant extraction tools grouped by type, taking into account the DNA variant and the impact on the gene product.
Missing variants have been annotated using SETH, thus the variant types delivered by SETH are considered.
Frequency | DNA variant type | Protein variant type |
---|---|---|
7163
805 759 276 191 171 155 60 56 43 36 33 25 19 3 3 1 |
SUBSTITUTION
SUBSTITUTION DELETION INSERTION DELETION UNKNOWN DELETION UNKNOWN INSERTION UNKNOWN INSERTION UNKNOWN UNKNOWN SUBSTITUTION SUBSTITUTION DELETION DUPLICATION |
SUBSTITUTION
UNKNOWN FRAMESHIFT FRAMESHIFT DELETION UNKNOWN UNKNOWN SUBSTITUTION INSERTION DELETION UNKNOWN FRAMESHIFT INSERTION FRAMESHIFT INSERTION SUBSTITUTION UNKNOWN |