Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome
Fig 1
Characteristics of variants included in the functional analyses.
(A) Training variants in canonical and noncanonical protein sequences. (B) Recurrently impacted residues in COSMIC. (C) Variant size in gnomAD, HGMD, COSMIC, and recurrent variants in COSMIC (COSMIC-R). Size of complex indels is the maximum of the number of amino acid residues inserted or deleted. (D) Variants per protein in COSMIC.