Box Plot from Scientific Research

‘Pathogenic’ and ‘likely pathogenic’ SNVs from ClinVar were grouped based on annotations in VHLdb 21 . SNVs associated only with type 1 VHL disease or ccRCC were deemed ‘type 1’ (n = 74 SNVs), whereas SNVs associated only with type 2 disease or predominantly pheochromocytoma were deemed ‘pheo-predominant’ (n = 29 SNVs, excluding SNVs associated with type 2B disease). The remaining pathogenic SNVs lacked unambiguous phenotypic data in VHLdb (n = 64 SNVs, ‘type unclear’). The boxplot shows function scores for SNVs in these categories, as well as for n = 2,033 other SNVs assayed, including variants either not deemed pathogenic in ClinVar or absent (one-way ANOVA, adjusted P = 0.00043 between ‘pheo-predominant’ and ‘type unclear’; **** P < 1.0 × 10 −10 for all other comparisons; boxplot: center line, median; box limits, upper and lower quartiles; whiskers, 1.5× interquartile range; all points shown).

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