Picard LiftoverVcf

AnastazielAnastaziel NetherlandsMember
edited August 2015 in Ask the GATK team

I am having a problem with picard's LiftoverVcf.

I am trying to Liftover hapmap files (downloaded plink files from hapmap and converted to vcf using plink) from ncbi36 to hg38. I was able to do this with GATK LiftoverVariants. My problem came when I had to merge the hapmap.hg38 with some genotype files (that I liftover from hg19 to hg38 using GATK LiftoverVariants). I am merging them so that I can run population stratification using plink. I used vcf-merge but it complained that a SNP has different reference allele in both files: rs3094315, should be reference allele G (which was correct in the genotype.hg38 files but in the hapmap.hg38 files it was wrong). I also first tried to lift hapmap.ncbi36 to hg19 then to hg38 but the offending allele was still there. So I decided to try and lift the hapmap.ncbi36 using LiftoverVCF from picard.

  1. I downloaded the newest picard build (20 hours old) picard-tools-1.138.
  2. Used the command: java -jar -Xmx6000m ../../../tools/picard-tools-1.138/picard.jar LiftoverVcf I=all_samples_hapmap3_r3_b36_fwd.qc.poly.tar.vcf O=all_samples_hapmap3_r3_b36_fwd.qc.poly.tar.picard.hg38.vcf C=../../../tools/liftover/chain_files/hg18ToHg38.over.chain REJECT=all_samples_hapmap3_r3_b36_fwd.qc.poly.tar.picard.hg38.reject.vcf R=../../../data/assemblies/hg38/hg38.fa VERBOSITY=ERROR

Here is the run:
[Thu Aug 13 00:43:40 CEST 2015] picard.vcf.LiftoverVcf INPUT=all_samples_hapmap3_r3_b36_fwd.qc.poly.tar.vcf OUTPUT=all_samples_hapmap3_r3_b36_fwd.qc.poly.tar.picard.hg38.vcf CHAIN=......\tools\liftover\chain_files\hg18ToHg38.over.chain REJECT=all_samples_hapmap3_r3_b36_fwd.qc.poly.tar.picard.hg38.reject.vcf REFERENCE_SEQUENCE=......\data\assemblies\hg19\assemble\hg38.fa VERBOSITY=ERROR QUIET=false VALIDATION_STRINGENCY=STRICT COMPRESSION_LEVEL=5 MAX_RECORDS_IN_RAM=500000 CREATE_INDEX=false CREATE_MD5_FILE=false GA4GH_CLIENT_SECRETS=client_secrets.json

Here is the error:
Exception in thread "main" java.lang.IllegalStateException: Allele in genotype A* not in the variant context [T*, C]
at htsjdk.variant.variantcontext.VariantContext.validateGenotypes(VariantContext.java:1357)
at htsjdk.variant.variantcontext.VariantContext.validate(VariantContext.java:1295)
at htsjdk.variant.variantcontext.VariantContext.(VariantContext.java:410)
at htsjdk.variant.variantcontext.VariantContextBuilder.make(VariantContextBuilder.java:496)
at htsjdk.variant.variantcontext.VariantContextBuilder.make(VariantContextBuilder.java:490)
at picard.vcf.LiftoverVcf.doWork(LiftoverVcf.java:200)
at picard.cmdline.CommandLineProgram.instanceMain(CommandLineProgram.java:206)
at picard.cmdline.PicardCommandLine.instanceMain(PicardCommandLine.java:95)
at picard.cmdline.PicardCommandLine.main(PicardCommandLine.java:105)

  1. I have no idea which SNP is the problem.
  2. I do not know what T* means (does not seem to exist in the file).
  3. I am new to picard so I thought VERBOSE=ERROR will give me something more but nothing more appeared.
  4. Given that lifting hapmap.ncbi36 to hg19 then to hg38 produced the same erroneous reference allele I suppose lifting will not fix this and I will have to work with dnsnp to correct my file. Do you know how I can change reference allele in a vcf? Is there a tool for this? Is there a liftover tool for dbsnp?
  5. As a side note I want to make picard work because I read that you will be deprecating the GATK liftover and will support the picard liftover (at some point in the future) so help with this tool will be appreciated.

Answers

  • Geraldine_VdAuweraGeraldine_VdAuwera Cambridge, MAMember, Administrator, Broadie

    Unfortunately the hg38 reference is not yet supported. We're working on resolving that in the near future.

  • chaokrchaokr Member, Broadie

    I ran into a similar error today while trying to convert from hg38 to hg19. Are there any updates on this issue?

    Error:
    Exception in thread "main" java.lang.IllegalStateException: Allele in genotype C* not in the variant context [G*, C]
    at htsjdk.variant.variantcontext.VariantContext.validateGenotypes(VariantContext.java:1360)
    at htsjdk.variant.variantcontext.VariantContext.validate(VariantContext.java:1298)
    at htsjdk.variant.variantcontext.VariantContext.(VariantContext.java:401)
    at htsjdk.variant.variantcontext.VariantContextBuilder.make(VariantContextBuilder.java:494)
    at htsjdk.variant.variantcontext.VariantContextBuilder.make(VariantContextBuilder.java:488)
    at picard.vcf.LiftoverVcf.tryToAddVariant(LiftoverVcf.java:369)
    at picard.vcf.LiftoverVcf.doWork(LiftoverVcf.java:287)
    at picard.cmdline.CommandLineProgram.instanceMain(CommandLineProgram.java:268)
    at picard.cmdline.PicardCommandLine.instanceMain(PicardCommandLine.java:98)
    at edu.mit.broad.picard.cmdline.PicardPrivateCommandLine.main(PicardPrivateCommandLine.java:24)

  • SheilaSheila Broad InstituteMember, Broadie, Moderator
    edited October 2017

    @chaokr
    Hi,

    I think a fix went in for this ~28 days ago. Can you try the very latest release (which came out 14 days ago)? That should have the fix in it :smile:

    -Sheila

  • Dear @Sheila , could you let me know which picard version has a fix? I am getting the same error with v2.12.1.
    Many thanks!
    Dalia

  • Actually, I see that it is in 2.13.2, so need to upgrade...

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