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VCF文件里面比较重要的头 tag-欢迎补充

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发表于 2017-6-2 11:32:13 | 显示全部楼层 |阅读模式
我随便列几个吧,这几个tag是需要熟记的。
[AppleScript] 纯文本查看 复制代码
##INFO=<ID=SAO "Variant Allele Origin: 0 - unspecified, 1 - Germline, 2 - Somatic, 3 - Both">  

非同义突变比较复杂,分成移码突变,错义突变(missense mutation),无义突变(英语:nonsense mutation
NSF Has non-synonymous frameshift A coding region variation  
NSM Has non-synonymous missense A coding region variation  
NSN Has non-synonymous nonsense A coding region variation  

U3/U5  3' UTR 5' UTR 
ASS/DSS acceptor/donor splice site
VC "Variation Class" --> SNV/INDEL 
ASP Is Assembly specific
OTH Has other variant with exactly the same set of mapped positions
KGPhase1/KGPhase3  1000 Genome phase 1 /3
OM  "Has OMIM/OMIA"
VLD  Is Validated. 
CAF An ordered, comma delimited list of allele frequencies based on 1000Genomes
COMMON A common SNP is one that has at least one 1000Genomes population with a minor allele of frequency >= 1% and for which 2 or more founders contribute to that minor allele frequency

G5 ">5% minor allele frequency in 1+ populations" 
G5A ">5% minor allele frequency in each and all populations">



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