Additional file 2: of Exome scale map of genetic alterations promoting metastasis in colorectal cancer

Table S2. Filtered variants detected in three or more patients. Chromosome, start, end - genome coordinates of variant; Ref/Alt - reference/alternative variant sequence. GT - genotype detected in a given sample (0 - reference, 1-alternative). DP - number of high quality reads at a given position in a given patient. Func.refGene - location of variant relative to gene. Gene - symbol of a gene the given variant maps to, or names of genes the given variants maps in between. GeneDetail.refGene - refSeq gene ID or distance to nearest gene given in the “Gene” column. ExAC_XXX - frequency of the alternative variant in XXX population according to ExAC database. 1000g_all/eur - variant frequency in the 1000 Genomes Project database (total/European). esp6500siv2_all - variant frequency according to National Heart, Lung, and Blood Institute GO Exome Sequencing Project. SIFT/Polyphen2/LRT/FATHMM/RadialSVM “_pred” - prediction of variant impact on protein structure: B-benign, N-neutral, T-tolerated, D-deleterious. ICGC_Id - variant ID in ICGC database (known cancer-related variants). Heterozygous variants are marked orange, homozygous are marked red. (XLSX 34 kb)

补充表S2。在三名及以上患者中检出的过滤后变异体。染色体、起始位点与终止位点：变异体的基因组坐标；Ref/Alt：参考序列/变异序列；GT：给定样本中检出的基因型（0代表参考型，1代表变异型）；DP：给定患者的给定变异位点处的高质量测序读段数；Func.refGene：变异体相对于基因的位置；Gene：变异体所映射的基因符号，或变异体所在区间两端的基因名称；GeneDetail.refGene：RefSeq基因ID，或"Gene"列中指定的最近基因的间距；ExAC_XXX：根据外显子组聚合联盟（Exome Aggregation Consortium, ExAC）数据库，变异序列在XXX人群中的频率；1000g_all/eur：1000基因组计划数据库中的变异体频率（总人群/欧洲人群）；esp6500siv2_all：根据美国国家心脏、肺与血液研究所GO外显子测序项目得到的变异体频率；SIFT/Polyphen2/LRT/FATHMM/RadialSVM "_pred"：变异体对蛋白质结构影响的预测结果：B代表良性、N代表中性、T代表耐受、D代表有害；ICGC_Id：国际癌症基因组联盟（International Cancer Genome Consortium, ICGC）数据库中的变异体ID（已知癌症相关变异体）；杂合变异体以橙色标注，纯合变异体以红色标注。（XLSX格式，文件大小34 KB）