关于VCF文件格式的说明:
https://gatk.broadinstitute.org/hc/en-us/articles/360035531692-VCF-Variant-Call-Format
0 for the REF allele, 1 for the first ALT allele, 2 for the second ALT allele, etc. When there is a single ALT allele (by far the more common case), GT will be either:
0/0 : the sample is homozygous reference
0/1 : the sample is heterozygous, carrying 1 copy of each of the REF and ALT alleles
1/1 : the sample is homozygous alternate
| means that the genotypes have been phased杂合的两个等位基因知道哪个等位基因来自哪条染色体;如果是单个样本感觉是可以通过碱基的测序深度获得(Physical Phasing)小局部连成一个整体,接出完整的单倍体,或者是通过测序reads,另外可以如果是trio的化可以通过家族亲缘关系进行推断
https://zhuanlan.zhihu.com/p/36289359
/ means it has not been phased
代表这个位置存在变异也可能不存在变异就是不确定,因此在数据分析的时候一般会去掉