Fig. 1

Representation of SNV frequency distribution and deviated distribution of sequence sets classified by PANTHER annotations. a Empirical cumulative distribution of SNV frequency scaled by the overall SNV frequency. The value 0 indicates the mean SNV frequency (7.13 SNVs per kilobase) and was used to rank the sequences before the graphical representation. b–f The graphs show the results of the PANTHER statistical enrichment test representing the SNV frequency distribution of sequence sets annotated with a annotation term that deviated significantly from the overall distribution. Distribution curves of each graph are color-coded by the annotation set: (b) GO-Slim Biological Process, c GO-Slim Cellular Component, d GO-Slim Molecular Function, e Pathways, and f Protein Class. Distribution curves to the left of the overall SNV frequency distribution (in black color) represent a set of sequences annotated under an annotation term that have fewer SNVs than expected while distribution curves to the right of the overall SNV frequency distribution symbolise a set of sequences with more SNVs than expected