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. 2020 Jul 22;10:12225. doi: 10.1038/s41598-020-69137-1

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© The Author(s) 2020

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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Instances of reference alleles and three categories of variants. RRVO represents the internal sequence variations present in repeat region which is different from the reference allele. FRVO represents the sequence variations with flanking region variations only, while the repeat region is the same as the reference allele. RRFR stands for the sequence with both repeat motif variations and flanking region variations.