TogoVar (https://togovar.org) is a database that integrates allele frequencies derived from Japanese populations and provides annotations for variant interpretation. First, a scheme to reanalyze individual-level genome sequence data deposited in the Japanese Genotype-phenotype Archive (JGA), a controlled-access database, was established to make allele frequencies publicly available. As more Japanese individual-level genome sequence data are deposited in JGA, the sample size employed in TogoVar is expected to increase, contributing to genetic study as reference data for Japanese populations. Second, public datasets of Japanese and non-Japanese populations were integrated into TogoVar to easily compare allele frequencies in Japanese and other populations. Each variant detected in Japanese populations was assigned a TogoVar ID as a permanent identifier. Third, these variants were annotated with molecular consequence, pathogenicity, and literature information for interpreting and prioritizing variants. Here, we introduce the newly developed TogoVar database that compares allele frequencies among Japanese and non-Japanese populations and describes the integrated annotations.

TogoVar (https://togovar.org) 是一个数据库，它整合了来自日本人群的等位基因频率，并为变异解释提供注释。首先，建立了一个重新分析保存在日本基因型-表型档案（JGA）（一个访问受控数据库）中的个体水平基因组序列数据的计划，以使等位基因频率公开可用。随着越来越多的日本个体水平的基因组序列数据存储在 JGA 中，TogoVar 中使用的样本量预计会增加，有助于作为日本人群的参考数据进行遗传研究。其次，日本人和非日本人的公共数据集被整合到 TogoVar 中，以便轻松比较日本人和其他人的等位基因频率。在日本人群中检测到的每个变体都被分配了一个 TogoVar ID 作为永久标识符。第三，这些变体被注释了分子后果、致病性和文献信息，用于解释和区分变体的优先级。在这里，我们介绍新开发的 TogoVar 数据库，该数据库比较日本人和非日本人的等位基因频率并描述集成注释。