Table 19. InSiGHT missing variants by the combination of variant extraction tools grouped by type, taking into accoung 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
18 17 12 11 9 8 8 3 2 2 1 1 1 1 1	DELETION SUBSTITUTION DELETION DUPLICATION DELETION UNKNOWN SUBSTITUTION DELETION SUBSTITUTION DUPLICATION UNKNOWN SUBSTITUTION INSERTION DUPLICATION DUPLICATION	FRAMESHIFT UNKNOWN DELETION FRAMESHIFT UNKNOWN SUBSTITUTION SUBSTITUTION SUBSTITUTION DELETION UNKNOWN DELETION FRAMESHIFT FRAMESHIFT SUBSTITUTION INSERTION