Entering edit mode
19 months ago
Sowmya Pulapet
▴
70
Hi,
I am performing filter based annotation using Annovar for my vcf file generated using GATK4.
The command used is:
annotate_variation.pl -filter -out sample -build hg19 -dbtype clinvar_20221231 sample.avinput humandb/
The output I got the following output:
clinvar_20221231 192257 1 100316 100317 C G 1 100316 . C G 250.64 filter AC=1;AF=0.500;AN=2;BaseQRankSum=1.35;DP=24;ExcessHet=0.0000;FS=3.949;MLEAC=1;MLEAF=0.500;MQ=57.00;MQRankSum=0.00;QD=10.44;ReadPosRankSum=-1.402e+00;SOR=0.552 GT:AD:DP:GQ:PL 0/1:15,9:24:99:258,0,406
According to Annovar documentation the output I am supposed to get is in this format:
clinvar_20140211 CLINSIG=other|other;CLNDBN=Inflammatory_bowel_disease_17\x2c_protection_against|Psoriasis\x2c_protection_against;CLNACC=RCV000003254.2|RCV000003255.2 1 67705958 67705958 G A comments: rs11209026 (R381Q), a SNP in IL23R associated with Crohn's disease
clinvar_20140211 CLINSIG=pathogenic|pathogenic|pathogenic|pathogenic;CLNDBN=Deafness\x2c_autosomal_recessive_1A|Deafness\x2c_digenic\x2c_GJB2/GJB6|Hereditary_hearing_loss_and_deafness|not_provided;CLNACC=RCV000018527.27|RCV000018528.27|RCV000037843.1|RCV000080373.1 13 20763686 20763686 comments: rs1801002 (del35G), a frameshift mutation in GJB2, associated with hearing loss
clinvar_20140211 CLINSIG=other;CLNDBN=Inflammatory_bowel_disease_1\x2c_susceptibility_to;CLNACC=RCV000004957.1 16 50745926 50745926 comments: rs2066844 (R702W), a non-synonymous SNP in NOD2
Compared to this my output file does not have any information such as CLINSIG, CLNDBN etc. rather than a 6 digit number. When I checked this number in ClinVar database it shows a different variant in a different position.
I would like to know how can I get the information mentioned in the documentation.
Thank you.