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  • Genomic Positions off in db135.b37.vcf

    I noticed some indels in db135.b37.vcf I downloaded from

    ftp://[email protected]

    For example:

    19 51835892 rs11402251 T TG . PASS GENEINFO=VSIG10L:147645;GNO;RSPOS=51835893;SAO=0;SLO;SSR=0;VC=DIV;VP=050100000000000100000200;WGT=0;dbSNPBuildID=120
    19 52004791 rs67024588 G GC . PASS GENEINFO=SIGLEC12:89858;GNO;RSPOS=52004794;RV;S3D;SAO=0;SLO;SSR=0;VC=DIV;VP=050300000000000100000200;WGT=0;dbSNPBuildID=130

    But we can see that the correct position is in "RSPOS=" but the second field is off.

    Is this a bug or a feature???

  • #2
    I found something that I think was similar and concluded was a bug months ago; I emailed them and one of them acknowledged it was a bug. I check back with them a few weeks later and I was told that he passed the information on to the relevant person and I haven't heard back. This was at least a few months ago.

    It may have been completely different then what you just posted but my conclusion is that I would not be surprised if there are numerous errors where things are off by 1 bp or maybe a couple more for indels.

    Comment


    • #3
      Oh I see. I think I will just fix that file with RSPOS positions. Thanks for your reply.

      Comment


      • #4
        Originally posted by ymc View Post
        Oh I see. I think I will just fix that file with RSPOS positions. Thanks for your reply.
        I recall considering that and realizing it wasn't that easy. Make sure you check a decent amount after changing them and confirming they are correct (again, whatever problems I saw may very well have been fixed by now).

        Comment


        • #5
          I am fixing this by hand now. How should I fix rs67024588? Are the alleles also wrong because at chr19:52004794 is C?

          19 52004794 rs67024588 C CC . PASS GENEINFO=SIGLEC12:89858;GNO;RSPOS=52004794;RV;S3D;SAO=0;SLO;SSR=0;VC=DIV;VP=050300000000000100000200;WGT=0;dbSNPBuildID=130

          Is this ok???

          Comment


          • #6
            According to the website it's a G: http://www.ncbi.nlm.nih.gov/projects...gi?rs=67024588, so it depends on what strand you are annotating with.

            Comment


            • #7
              But doesn't VCF always show forward strand??



              It is a G only if it is in the reverse strand. And the base before the event is a C in the forward strand, right?

              Comment


              • #8
                Ah, yes, you're probably right. My fault.

                Comment

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