SNV callers benchmarked in this study.

The callers are labelled as the type of lineage they call. Germline denotes calling germline SNVs from a single (non-tumor) sample, tumor denotes calling any SNVs (germline and somatic) from a single tumor sample, and somatic denotes calling somatic SNVs from paired control-tumor samples. *GATK HaplotypeCaller, **GATK Unified Genotyper, ***JointSNVMix outputs both germline and somatic calls from paired control-tumor samples.本数据集中的变异调用程序将按照其负责调用的遗传谱系类型进行分类标注。其中，生殖系（Germline）标注指从单份非肿瘤样本中调用生殖系单核苷酸变异（SNV, Single Nucleotide Variant）；肿瘤（Tumor）标注指从单份肿瘤样本中调用任意类型的单核苷酸变异（涵盖生殖系与体细胞变异）；体细胞（Somatic）标注指从配对的正常对照-肿瘤样本中调用体细胞单核苷酸变异。*基因组分析工具包（GATK, Genome Analysis Toolkit）单倍型调用器（HaplotypeCaller）、**GATK统一基因分型器（Unified Genotyper）以及***JointSNVMix均可从配对的正常对照-肿瘤样本中同时生成生殖系与体细胞变异的调用结果。