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. 2022 Mar 10;27(5):2554–2562. doi: 10.1038/s41380-022-01483-0

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© The Author(s) 2022

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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Fig. 1 — Coding variants were assigned the indicated functional annotations by using ANNOVAR. Of the annotations, frameshift deletion/insertion, splicing variants, stop-gain/stop-loss, and nonsynonymous SNVs were defined as potentially deleterious mutations. On the basis of the minor allele frequency (MAF), available from ToMMo 8.3KJPN, the variants were classified into three groups: rare (MAF < 0.01), infrequent (0.01 ≤ MAF ≤ 0.05), and common (0.05 < MAF).