BIG-Annotator：基因组测序数据高效功能注释及其在遗传诊断中的应用

黄莹,刘琪,池连江,石承民,吴祯,胡敏,石宏,陈华

Application of BIG-Annotator in the genome sequencing data functional annotation and genetic diagnosis

Huang Ying,Liu Qi,Chi Lianjiang,Shi Chengmin,Wu Zhen,Hu Min,Shi Hong,Chen Hua

表5 BIG-Annotator生成的有关rs66612022的报告

Table 5 The report on rs66612022 output from BIG-Annotator

属性 描述 属性 描述 Chr. 7 SNP rs66612022 Position 94039080 Transcripts (ensembl) ENST00000297268 c.982G>A p.G328S Ref G MAF in ExAC_ALL . (. means absent) Alt A MAF in 1000g2014oct .(. means absent) Gene (refGene) COL1A2 SIFT_score 0 Type Pathogenic GERP++_RS 5.58 Clinvar UNK dbscSNV . (. means absent) ExonicFunc (refGene) Nonsynonymous SNV OMIM 120160 Gene (ensembl) ENSG00000164692 Interpro_domain . (. means absent)