Additional file 8: of MitoRS, a method for high throughput, sensitive, and accurate detection of mitochondrial DNA heteroplasmy

MitoRS output file for the analysis of the CEPH family 1463. Tab1: Raw MitoRS output for the CEPH family 1463 analysis. Column headers are detailed in the Additional files 14: Table S1 legend. Data from the 17 samples are populated in consecutive columns. As explained in the Additional file 2, the rCRS position 3’107-N is deleted from the reference for proper alignment. Positions are shifted accordingly and match the rCRS numbering. Tab2: List of all variants identified in the CEPH family 1463. The parameters used to identify a variant are presented in the main text. Homoplasmic variants passing filters are highlighted in red, high frequency heteroplasmy in orange, low frequency heteroplasmy in yellow, and positions not passing filters are left in blank. For each variant, the relative coverage (in percentage), the nature of the variant (SNV or Indel), and the VarScan p-value are shown. The positions highlighted in blue were validated by Sanger sequencing. Tab 3 to Tab 7: Variant sharing within the CEPH family 1463. Same data as Tab2 but from selected individuals to highlight how variant are shared within the CEPH 1463 family. The data are similar to Tables 1 and 2 with extra details. Tab8: Reminder of the CEPH family 1463 pedigree. Figure 5 data are shown as a reminder of the CEPH family 1463 pedigree. Tab9: CEPH family 1463 haplogroup. Haplofind output obtained from the CEPH family 1463 fastA file generated by MitoRS. See the Additional file 10: Table S2 legend for details. (XLSX 29419 kb)

本文件为CEPH家系1463分析的MitoRS（MitoRS）输出文件。
表1：CEPH家系1463分析的原始MitoRS输出结果。列标题详见附加文件14：表S1注释。17份样本的数据依次排布于连续列中。如附加文件2所述，为实现精准比对，已从参考序列中移除修正剑桥参考序列（revised Cambridge Reference Sequence, rCRS）的3'107-N位点，并相应调整位点编号以匹配rCRS的编号规则。
表2：CEPH家系1463中鉴定到的全部变异位点列表。变异位点的鉴定参数详见正文。通过过滤阈值的同质性变异以红色标注，高频异质性变异以橙色标注，低频异质性变异以黄色标注，未通过过滤的位点留空。每个变异位点均展示了相对覆盖度（百分比形式）、变异类型（单核苷酸变异Single Nucleotide Variant, SNV或插入缺失Insertion-Deletion, Indel）以及VarScan（VarScan）检验的p值。以蓝色标注的位点已通过Sanger测序验证。
表3至表7：CEPH家系1463内的变异共享情况。该部分数据与表2一致，但仅选取部分家系成员的数据以展示CEPH家系1463内的变异共享模式；相较于表1与表2，本部分补充了更多细节信息。
表8：CEPH家系1463家系谱备忘。同时展示了图5的数据，作为CEPH家系1463家系谱的补充参考。
表9：CEPH家系1463的单倍群。本部分包含从MitoRS生成的CEPH家系1463 FASTA格式文件中得到的Haplofind（Haplofind）输出结果。详细信息请参见附加文件10：表S2注释。（XLSX格式，文件大小29419 KB）