Cancer related variants list

We created a set of 71021 protein altering variants related to cancer.The list can be used to annotate or prioritize any mutation lists from Human sequencing experiment.

Methods:

We selected variants from COSMICv94 (GRCh38) where CNT > 2 excluding those flagged as SNP.The resulting dataset was further annotated using SNPEff (v5.1d) and Clinvar (20240325) using SnpSift (v5.1d).We filtered out all the 'Benign' and 'Likely_benign' as well as all the 'synomnimous_variants'.

FOR RESEARCH USE ONLY

COSMIC and Clinvar have usage policy restrictions.

https://cancer.sanger.ac.uk/cosmic/licensehttps://www.ncbi.nlm.nih.gov/clinvar/docs/maintenance_use/

我们构建了一套总计71021个与癌症相关的蛋白质改变变异体。该数据集可用于注释或优先级排序来自人类测序实验的任意突变列表。

研究方法：
我们从COSMICv94（GRCh38参考基因组）中选取了变异计数（CNT）大于2的变异体，并排除了被标记为单核苷酸多态性（Single Nucleotide Polymorphism, SNP）的序列。随后，我们借助SnpSift（v5.1d）工具，结合SNPEff（v5.1d）与ClinVar（20240325版本）对所得数据集进行了进一步注释。我们筛选掉了所有标注为‘良性’‘疑似良性’的变异体，以及全部同义变异体。

本数据集仅可用于研究用途。
COSMIC与ClinVar存在使用政策限制。
相关许可链接：
https://cancer.sanger.ac.uk/cosmic/license
https://www.ncbi.nlm.nih.gov/clinvar/docs/maintenance_use/