Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

Sign up for GitHub

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Jump to bottom

NullPointerException when annotating CNVs #444

Closed
johanneskoester opened this issue Apr 25, 2019 · 12 comments
Closed

NullPointerException when annotating CNVs #444

johanneskoester opened this issue Apr 25, 2019 · 12 comments
Assignees
@holtgrewe

Comments

@johanneskoester
Copy link

When annotating some CNV calls with

jannovar annotate-vcf -d jannovar-db/hg38_ucsc.ser -i test.vcf -o cnv-calls/A43381-merged.jannovar.vcf

I get the following exception:

Exception in thread "main" java.lang.NullPointerException: null key in entry: null=SVAnnotation{variant=SVCopyNumberVariant{genomePos=1:g.139213, genomePos2=1:g.139234, posCILowerBound=-139212, posCIUpperBound=0, pos2CILowerBound=0, pos2CIUpperBound=41690}, transcript=ENST00000484859.1(1:g.141474_149707), effects=[DOWNSTREAM_GENE_VARIANT, STRUCTURAL_VARIANT, NON_CODING_TRANSCRIPT_VARIANT]}
        at com.google.common.collect.CollectPreconditions.checkEntryNotNull(CollectPreconditions.java:32)
        at com.google.common.collect.RegularImmutableMap.fromEntryArray(RegularImmutableMap.java:80)
        at com.google.common.collect.RegularImmutableMap.fromEntries(RegularImmutableMap.java:54)
        at com.google.common.collect.ImmutableMap.copyOf(ImmutableMap.java:415)
        at com.google.common.collect.ImmutableMap.copyOf(ImmutableMap.java:388)
        at de.charite.compbio.jannovar.annotation.SVAnnotations.getHighestImpactAnnotation(SVAnnotations.java:101)
        at de.charite.compbio.jannovar.htsjdk.VariantContextAnnotator.applySVAnnotations(VariantContextAnnotator.java:616)
        at de.charite.compbio.jannovar.htsjdk.VariantContextAnnotator.dispatchAnnotateVariantContext(VariantContextAnnotator.java:337)
        at de.charite.compbio.jannovar.htsjdk.VariantContextAnnotator.annotateVariantContext(VariantContextAnnotator.java:294)
        at java.base/java.util.stream.ReferencePipeline$3$1.accept(ReferencePipeline.java:195)
        at java.base/java.util.Iterator.forEachRemaining(Iterator.java:133)
        at java.base/java.util.Spliterators$IteratorSpliterator.forEachRemaining(Spliterators.java:1801)
        at java.base/java.util.stream.AbstractPipeline.copyInto(AbstractPipeline.java:484)
        at java.base/java.util.stream.AbstractPipeline.wrapAndCopyInto(AbstractPipeline.java:474)
        at java.base/java.util.stream.ForEachOps$ForEachOp.evaluateSequential(ForEachOps.java:150)
        at java.base/java.util.stream.ForEachOps$ForEachOp$OfRef.evaluateSequential(ForEachOps.java:173)
        at java.base/java.util.stream.AbstractPipeline.evaluate(AbstractPipeline.java:234)
        at java.base/java.util.stream.ReferencePipeline.forEachOrdered(ReferencePipeline.java:502)
        at de.charite.compbio.jannovar.cmd.annotate_vcf.AnnotateVCFCommand.run(AnnotateVCFCommand.java:411)
        at de.charite.compbio.jannovar.Jannovar.main(Jannovar.java:64)

The input file is

##fileformat=VCFv4.2
##FILTER=<ID=PASS,Description="All filters passed">
##INFO=<ID=IMPRECISE,Number=0,Type=Flag,Description="Imprecise structural variation">
##INFO=<ID=CN,Number=1,Type=Integer,Description="Copy number in tumor sample">
##INFO=<ID=VAF,Number=1,Type=Float,Description="Subclone fraction affected by the CNV.">
##INFO=<ID=END,Number=1,Type=Integer,Description="End of copy number variation.">
##INFO=<ID=CIPOS,Number=2,Type=Integer,Description="Confidence interval around POS for imprecise variants">
##INFO=<ID=CIEND,Number=2,Type=Integer,Description="Confidence interval around END for imprecise variants">
##INFO=<ID=SVLEN,Number=1,Type=Integer,Description="CNV length.">
##INFO=<ID=SVTYPE,Number=1,Type=Integer,Description="SV type.">
##INFO=<ID=LOCI,Number=1,Type=Integer,Description="Number of contained loci.">
##INFO=<ID=OBS,Number=1,Type=String,Description="Bayes factors for per-locus support for no CNV, given as Kass Raftery scores: N: none, B: barely, P: positive, S: strong, V: very strong">
##FORMAT=<ID=LOCI_DP,Number=.,Type=Integer,Description="Depths of contained loci.">
##FORMAT=<ID=LOCI_VAF,Number=.,Type=Integer,Description="VAFs of contained loci.">
##contig=<ID=chr1,length=248956422>
##contig=<ID=chr2,length=242193529>
##contig=<ID=chr3,length=198295559>
##contig=<ID=chr4,length=190214555>
##contig=<ID=chr5,length=181538259>
##contig=<ID=chr6,length=170805979>
##contig=<ID=chr7,length=159345973>
##contig=<ID=chr8,length=145138636>
##contig=<ID=chr9,length=138394717>
##contig=<ID=chr10,length=133797422>
##contig=<ID=chr11,length=135086622>
##contig=<ID=chr12,length=133275309>
##contig=<ID=chr13,length=114364328>
##contig=<ID=chr14,length=107043718>
##contig=<ID=chr15,length=101991189>
##contig=<ID=chr16,length=90338345>
##contig=<ID=chr17,length=83257441>
##contig=<ID=chr18,length=80373285>
##contig=<ID=chr19,length=58617616>
##contig=<ID=chr20,length=64444167>
##contig=<ID=chr21,length=46709983>
##contig=<ID=chr22,length=50818468>
##contig=<ID=chrX,length=156040895>
##contig=<ID=chrY,length=57227415>
##contig=<ID=chrM,length=16569>
##contig=<ID=chr1_KI270706v1_random,length=175055>
##contig=<ID=chr1_KI270707v1_random,length=32032>
##contig=<ID=chr1_KI270708v1_random,length=127682>
##contig=<ID=chr1_KI270709v1_random,length=66860>
##contig=<ID=chr1_KI270710v1_random,length=40176>
##contig=<ID=chr1_KI270711v1_random,length=42210>
##contig=<ID=chr1_KI270712v1_random,length=176043>
##contig=<ID=chr1_KI270713v1_random,length=40745>
##contig=<ID=chr1_KI270714v1_random,length=41717>
##contig=<ID=chr2_KI270715v1_random,length=161471>
##contig=<ID=chr2_KI270716v1_random,length=153799>
##contig=<ID=chr3_GL000221v1_random,length=155397>
##contig=<ID=chr4_GL000008v2_random,length=209709>
##contig=<ID=chr5_GL000208v1_random,length=92689>
##contig=<ID=chr9_KI270717v1_random,length=40062>
##contig=<ID=chr9_KI270718v1_random,length=38054>
##contig=<ID=chr9_KI270719v1_random,length=176845>
##contig=<ID=chr9_KI270720v1_random,length=39050>
##contig=<ID=chr11_KI270721v1_random,length=100316>
##contig=<ID=chr14_GL000009v2_random,length=201709>
##contig=<ID=chr14_GL000225v1_random,length=211173>
##contig=<ID=chr14_KI270722v1_random,length=194050>
##contig=<ID=chr14_GL000194v1_random,length=191469>
##contig=<ID=chr14_KI270723v1_random,length=38115>
##contig=<ID=chr14_KI270724v1_random,length=39555>
##contig=<ID=chr14_KI270725v1_random,length=172810>
##contig=<ID=chr14_KI270726v1_random,length=43739>
##contig=<ID=chr15_KI270727v1_random,length=448248>
##contig=<ID=chr16_KI270728v1_random,length=1872759>
##contig=<ID=chr17_GL000205v2_random,length=185591>
##contig=<ID=chr17_KI270729v1_random,length=280839>
##contig=<ID=chr17_KI270730v1_random,length=112551>
##contig=<ID=chr22_KI270731v1_random,length=150754>
##contig=<ID=chr22_KI270732v1_random,length=41543>
##contig=<ID=chr22_KI270733v1_random,length=179772>
##contig=<ID=chr22_KI270734v1_random,length=165050>
##contig=<ID=chr22_KI270735v1_random,length=42811>
##contig=<ID=chr22_KI270736v1_random,length=181920>
##contig=<ID=chr22_KI270737v1_random,length=103838>
##contig=<ID=chr22_KI270738v1_random,length=99375>
##contig=<ID=chr22_KI270739v1_random,length=73985>
##contig=<ID=chrY_KI270740v1_random,length=37240>
##contig=<ID=chrUn_KI270302v1,length=2274>
##contig=<ID=chrUn_KI270304v1,length=2165>
##contig=<ID=chrUn_KI270303v1,length=1942>
##contig=<ID=chrUn_KI270305v1,length=1472>
##contig=<ID=chrUn_KI270322v1,length=21476>
##contig=<ID=chrUn_KI270320v1,length=4416>
##contig=<ID=chrUn_KI270310v1,length=1201>
##contig=<ID=chrUn_KI270316v1,length=1444>
##contig=<ID=chrUn_KI270315v1,length=2276>
##contig=<ID=chrUn_KI270312v1,length=998>
##contig=<ID=chrUn_KI270311v1,length=12399>
##contig=<ID=chrUn_KI270317v1,length=37690>
##contig=<ID=chrUn_KI270412v1,length=1179>
##contig=<ID=chrUn_KI270411v1,length=2646>
##contig=<ID=chrUn_KI270414v1,length=2489>
##contig=<ID=chrUn_KI270419v1,length=1029>
##contig=<ID=chrUn_KI270418v1,length=2145>
##contig=<ID=chrUn_KI270420v1,length=2321>
##contig=<ID=chrUn_KI270424v1,length=2140>
##contig=<ID=chrUn_KI270417v1,length=2043>
##contig=<ID=chrUn_KI270422v1,length=1445>
##contig=<ID=chrUn_KI270423v1,length=981>
##contig=<ID=chrUn_KI270425v1,length=1884>
##contig=<ID=chrUn_KI270429v1,length=1361>
##contig=<ID=chrUn_KI270442v1,length=392061>
##contig=<ID=chrUn_KI270466v1,length=1233>
##contig=<ID=chrUn_KI270465v1,length=1774>
##contig=<ID=chrUn_KI270467v1,length=3920>
##contig=<ID=chrUn_KI270435v1,length=92983>
##contig=<ID=chrUn_KI270438v1,length=112505>
##contig=<ID=chrUn_KI270468v1,length=4055>
##contig=<ID=chrUn_KI270510v1,length=2415>
##contig=<ID=chrUn_KI270509v1,length=2318>
##contig=<ID=chrUn_KI270518v1,length=2186>
##contig=<ID=chrUn_KI270508v1,length=1951>
##contig=<ID=chrUn_KI270516v1,length=1300>
##contig=<ID=chrUn_KI270512v1,length=22689>
##contig=<ID=chrUn_KI270519v1,length=138126>
##contig=<ID=chrUn_KI270522v1,length=5674>
##contig=<ID=chrUn_KI270511v1,length=8127>
##contig=<ID=chrUn_KI270515v1,length=6361>
##contig=<ID=chrUn_KI270507v1,length=5353>
##contig=<ID=chrUn_KI270517v1,length=3253>
##contig=<ID=chrUn_KI270529v1,length=1899>
##contig=<ID=chrUn_KI270528v1,length=2983>
##contig=<ID=chrUn_KI270530v1,length=2168>
##contig=<ID=chrUn_KI270539v1,length=993>
##contig=<ID=chrUn_KI270538v1,length=91309>
##contig=<ID=chrUn_KI270544v1,length=1202>
##contig=<ID=chrUn_KI270548v1,length=1599>
##contig=<ID=chrUn_KI270583v1,length=1400>
##contig=<ID=chrUn_KI270587v1,length=2969>
##contig=<ID=chrUn_KI270580v1,length=1553>
##contig=<ID=chrUn_KI270581v1,length=7046>
##contig=<ID=chrUn_KI270579v1,length=31033>
##contig=<ID=chrUn_KI270589v1,length=44474>
##contig=<ID=chrUn_KI270590v1,length=4685>
##contig=<ID=chrUn_KI270584v1,length=4513>
##contig=<ID=chrUn_KI270582v1,length=6504>
##contig=<ID=chrUn_KI270588v1,length=6158>
##contig=<ID=chrUn_KI270593v1,length=3041>
##contig=<ID=chrUn_KI270591v1,length=5796>
##contig=<ID=chrUn_KI270330v1,length=1652>
##contig=<ID=chrUn_KI270329v1,length=1040>
##contig=<ID=chrUn_KI270334v1,length=1368>
##contig=<ID=chrUn_KI270333v1,length=2699>
##contig=<ID=chrUn_KI270335v1,length=1048>
##contig=<ID=chrUn_KI270338v1,length=1428>
##contig=<ID=chrUn_KI270340v1,length=1428>
##contig=<ID=chrUn_KI270336v1,length=1026>
##contig=<ID=chrUn_KI270337v1,length=1121>
##contig=<ID=chrUn_KI270363v1,length=1803>
##contig=<ID=chrUn_KI270364v1,length=2855>
##contig=<ID=chrUn_KI270362v1,length=3530>
##contig=<ID=chrUn_KI270366v1,length=8320>
##contig=<ID=chrUn_KI270378v1,length=1048>
##contig=<ID=chrUn_KI270379v1,length=1045>
##contig=<ID=chrUn_KI270389v1,length=1298>
##contig=<ID=chrUn_KI270390v1,length=2387>
##contig=<ID=chrUn_KI270387v1,length=1537>
##contig=<ID=chrUn_KI270395v1,length=1143>
##contig=<ID=chrUn_KI270396v1,length=1880>
##contig=<ID=chrUn_KI270388v1,length=1216>
##contig=<ID=chrUn_KI270394v1,length=970>
##contig=<ID=chrUn_KI270386v1,length=1788>
##contig=<ID=chrUn_KI270391v1,length=1484>
##contig=<ID=chrUn_KI270383v1,length=1750>
##contig=<ID=chrUn_KI270393v1,length=1308>
##contig=<ID=chrUn_KI270384v1,length=1658>
##contig=<ID=chrUn_KI270392v1,length=971>
##contig=<ID=chrUn_KI270381v1,length=1930>
##contig=<ID=chrUn_KI270385v1,length=990>
##contig=<ID=chrUn_KI270382v1,length=4215>
##contig=<ID=chrUn_KI270376v1,length=1136>
##contig=<ID=chrUn_KI270374v1,length=2656>
##contig=<ID=chrUn_KI270372v1,length=1650>
##contig=<ID=chrUn_KI270373v1,length=1451>
##contig=<ID=chrUn_KI270375v1,length=2378>
##contig=<ID=chrUn_KI270371v1,length=2805>
##contig=<ID=chrUn_KI270448v1,length=7992>
##contig=<ID=chrUn_KI270521v1,length=7642>
##contig=<ID=chrUn_GL000195v1,length=182896>
##contig=<ID=chrUn_GL000219v1,length=179198>
##contig=<ID=chrUn_GL000220v1,length=161802>
##contig=<ID=chrUn_GL000224v1,length=179693>
##contig=<ID=chrUn_KI270741v1,length=157432>
##contig=<ID=chrUn_GL000226v1,length=15008>
##contig=<ID=chrUn_GL000213v1,length=164239>
##contig=<ID=chrUn_KI270743v1,length=210658>
##contig=<ID=chrUn_KI270744v1,length=168472>
##contig=<ID=chrUn_KI270745v1,length=41891>
##contig=<ID=chrUn_KI270746v1,length=66486>
##contig=<ID=chrUn_KI270747v1,length=198735>
##contig=<ID=chrUn_KI270748v1,length=93321>
##contig=<ID=chrUn_KI270749v1,length=158759>
##contig=<ID=chrUn_KI270750v1,length=148850>
##contig=<ID=chrUn_KI270751v1,length=150742>
##contig=<ID=chrUn_KI270752v1,length=27745>
##contig=<ID=chrUn_KI270753v1,length=62944>
##contig=<ID=chrUn_KI270754v1,length=40191>
##contig=<ID=chrUn_KI270755v1,length=36723>
##contig=<ID=chrUn_KI270756v1,length=79590>
##contig=<ID=chrUn_KI270757v1,length=71251>
##contig=<ID=chrUn_GL000214v1,length=137718>
##contig=<ID=chrUn_KI270742v1,length=186739>
##contig=<ID=chrUn_GL000216v2,length=176608>
##contig=<ID=chrUn_GL000218v1,length=161147>
##contig=<ID=chrEBV,length=171823>
##bcftools_viewVersion=1.9+htslib-1.9
##bcftools_viewCommand=view -; Date=Thu Apr 25 14:01:25 2019
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO	FORMAT	tumor	normal
chr1	139213	.	N	<CNV>	52.6073	.	END=139233;SVLEN=22;CN=1;VAF=1;LOCI=2;SVTYPE=CNV;IMPRECISE;CIPOS=-139212,0;CIEND=0,41690;OBS=VV	LOCI_DP:LOCI_VAF	72,69:1,1	81,61:0.5,0.5

From a quick look at the source, it seems like gene_id is null?
Any help would be greatly appreciated.
@johanneskoester
Copy link
Author

@holtgrewe I need this rather urgently. If you give me a hint, I can also try provide a PR myself.

@holtgrewe
Copy link
Member

@johanneskoester I will look at this on Thu or Fri.

@holtgrewe
Copy link
Member

Hi, it looks like only the UCSC transcript DB is affected. The problem are transcripts without gene ID. Fixing in 72543d0.

@johanneskoester
Copy link
Author

Thanks a lot! Can we expect a new release soon?

@holtgrewe
Copy link
Member

Yes, after completing #447 which should not be too much work.

@johanneskoester
Copy link
Author

Great, thank you!

@holtgrewe
Copy link
Member

OK, will start the release now before closing #447 as that turned out to be more complex than anticipated.

@holtgrewe
Copy link
Member

OK, released to Maven Central. It will take some time until it appears there and I can update the conda package.

@johanneskoester
Copy link
Author

Thanks a lot!

@julesjacobsen
Copy link
Contributor

@holtgrewe regarding Maven central releases and visibility - the artefact is usually present as soon as you release it, however there is a lag before it is indexed and visible from search/ on the web. So you ought to be able to do a conda package straight away assuming this is simply referencing the maven package directly.

@holtgrewe
Copy link
Member

@julesjacobsen I'm referencing the ZIP as shown here.

https://github.com/bioconda/bioconda-recipes/blob/master/recipes/jannovar-cli/meta.yaml

I'd be happy to learn about a better way.

@julesjacobsen
Copy link
Contributor

I think this is the direct link:
http://repo.maven.apache.org/maven2/de/charite/compbio/jannovar-cli/0.31/

What time did you do the release? I assume the server timestamps are in GMT.

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Assignees

@holtgrewe holtgrewe

Labels
None yet
Projects
None yet
Milestone
No milestone
Development

No branches or pull requests
3 participants
@holtgrewe @julesjacobsen @johanneskoester