Interpreting a vcf file
0
0
Entering edit mode
2 days ago

I am trying to interpret a VCF file but there is one part which I still don't quite get. For example:

chr11   62529120        .       C       A       .       PASS    CSQ=A|missense_variant|MODERATE|AHNAK|ENSG00000124942|Transcript|ENST00000378024|protein_coding|5/5||||5543/18761|5297/17673|1766/5890|G/V|gGc/gTc|rs76414066||-1||SNV|HGNC|HGNC:347|YES|MANE_Select|NM_001620.3||2||CCDS31584.1|ENSP00000367263|Q09666.195||UPI00004EC29C|Q09666-1||deleterious(0.01)|unknown(0)|MobiDB_lite:mobidb-lite||0.0032|0|0.0115|0|0.007|0.001|0.01082|0.001882|0.0055|0.007576|0|0.004231|0.006068|0.01263|0.01283|0.002666|0.007365|0.002047|0.007675|0.007973|0.00634|0|0.002925|0.01701|0.01206|0.00759|0.002696|0.01701|gnomADg_MID||benign||1||||||;DP=102;MQ=60.00;MQ0=0;NT=ref;QSS=127;QSS_NT=127;ReadPosRankSum=0.08;SGT=CC->AC;SNVSB=0.00;SOMATIC;SomaticEVS=19.73;TQSS=1;TQSS_NT=1 **DP:FDP:SDP:SUBDP:AU:CU:GU:TU    49:0:0:0:0,0:49,49:0,0:0,0      52:0:0:0:27,28:25,25:0,0:0,0**

It looks to me like there are two sets of genotype information, but what do they correspond to?

DP:FDP:SDP:SUBDP:AU:CU:GU:TU    49:0:0:0:0,0:49,49:0,0:0,0      52:0:0:0:27,28:25,25:0,0:0,0

Any pointers?

variant vcf • 174 views
ADD COMMENT
2
Entering edit mode

but what do they correspond to?

well, all the required information : the samples' names, the definition of the FORMAT field should be defined in the VCF header.

ADD REPLY
0
Entering edit mode

this is a pretty weird VCF file as there is no "GT" field

ADD REPLY

Login before adding your answer.

Traffic: 2220 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6