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. 2017 Jun 27;7:4287. doi: 10.1038/s41598-017-04642-4

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© The Author(s) 2017

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Functional analysis of KOVA coding variants. (a) Numbers of novel and known variants categorized by function. The overlaid plot shows size distribution of indels, with the blue bar indicating multiples of three bases. (b) Nonsynonymous to synonymous SNV (NS/S) ratio by variant allele frequencies. (c) SIFT score and (d) Scaled C-score (CADD) by allele frequencies. (e) Degree of amino acid conservation of variant residues by allele frequencies. Fraction of species numbers with different amino acid on orthologous proteins compared to human orthologs. (f) Relative position of loss-of-function (LoF) variants on protein. Solid, dotted, and dash-dot lines in c-e indicate median, upper, and lower quantiles, respectively.