Open muppetjones opened 1 month ago
Hi @muppetjones
Apologies for the delay in responding, can you share your input please? I've tried using the input as described in the JSON output, and using VEP 112 it seems to appropriately be giving nan as the variant allele. But I just want to confirm using your exact input for this example.
Describe the issue
Presence of a
NAN
allele results in invalid JSON encoding.Given the following input:
The following output was given (abbreviated)
Additional information
NAN
, notNA
, but we haven't fully vetted all combinations.nan
and-nan
have been seen.System
Full VEP command line
Full error message
n/a -- VEP does not error.
Data files (if applicable)
Full output record:
{"nearest":["ENST00000454757"],"most_severe_consequence":"intron_variant","transcript_consequences":[{"ccds":"CCDS5514.1","gene_id":"ENSG00000146648","trembl":["Q75MF2_HUMAN","I3WA73_HUMAN","I3WA72_HUMAN","G9MC81_HUMAN","F1JTL6_HUMAN","E9PFD7_HUMAN","C9JYS6_HUMAN","A7VN06_HUMAN"],"source":"Ensembl","given_ref":"C","uniparc":["UPI000003E750"],"used_ref":"C","gene_symbol_source":"HGNC","consequence_terms":["intron_variant"],"gene_symbol":"EGFR","hgnc_id":3236,"protein_id":"ENSP00000275493","strand":1,"impact":"MODIFIER","intron":"26/27","biotype":"protein_coding","swissprot":["EGFR_HUMAN"],"gene_pheno":1,"transcript_id":"ENST00000275493","canonical":1,"variant_allele":-nan,"refseq_transcript_ids":["NM_005228.3"]},{"source":"Ensembl","given_ref":"C","uniparc":["UPI000011F91B"],"gene_id":"ENSG00000146648","trembl":["Q9H3D0_HUMAN","F1JTL6_HUMAN","C9JYS6_HUMAN"],"gene_symbol":"EGFR","consequence_terms":["intron_variant"],"hgnc_id":3236,"used_ref":"C","gene_symbol_source":"HGNC","impact":"MODIFIER","strand":1,"biotype":"protein_coding","intron":"17/17","protein_id":"ENSP00000410031","transcript_id":"ENST00000442591","variant_allele":-nan,"gene_pheno":1},{"gene_pheno":1,"transcript_id":"ENST00000454757","variant_allele":-nan,"protein_id":"ENSP00000395243","biotype":"protein_coding","intron":"26/27","impact":"MODIFIER","strand":1,"gene_symbol_source":"HGNC","used_ref":"C","gene_symbol":"EGFR","consequence_terms":["intron_variant"],"hgnc_id":3236,"gene_id":"ENSG00000146648","trembl":["Q75MF2_HUMAN","I3WA73_HUMAN","I3WA72_HUMAN","G9MC81_HUMAN","F1JTL6_HUMAN","E9PFD7_HUMAN","C9JYS6_HUMAN","A7VN06_HUMAN"],"source":"Ensembl","given_ref":"C","uniparc":["UPI00020655C0"]},{"strand":1,"impact":"MODIFIER","biotype":"protein_coding","intron":"25/25","protein_id":"ENSP00000415559","transcript_id":"ENST00000455089","variant_allele":-nan,"gene_pheno":1,"source":"Ensembl","uniparc":["UPI000050D030"],"given_ref":"C","gene_id":"ENSG00000146648","trembl":["Q504U8_HUMAN","I3WA73_HUMAN","I3WA72_HUMAN","G9MC81_HUMAN","F1JTL6_HUMAN","A7VN06_HUMAN"],"consequence_terms":["intron_variant"],"gene_symbol":"EGFR","hgnc_id":3236,"used_ref":"C","gene_symbol_source":"HGNC"},{"impact":"MODIFIER","strand":1,"biotype":"retained_intron","distance":1180,"gene_pheno":1,"variant_allele":-nan,"transcript_id":"ENST00000485503","gene_id":"ENSG00000146648","given_ref":"C","source":"Ensembl","used_ref":"C","gene_symbol_source":"HGNC","hgnc_id":3236,"gene_symbol":"EGFR","consequence_terms":["downstream_gene_variant"]},{"gene_id":"1956","given_ref":"C","source":"RefSeq","used_ref":"C","gene_symbol_source":"EntrezGene","hgnc_id":3236,"gene_symbol":"EGFR","consequence_terms":["intron_variant"],"protein_id":"NP_001333826.1","impact":"MODIFIER","strand":1,"biotype":"protein_coding","intron":"25/25","variant_allele":-nan,"transcript_id":"NM_001346897.2"},{"gene_id":"1956","source":"RefSeq","given_ref":"C","gene_symbol_source":"EntrezGene","used_ref":"C","consequence_terms":["intron_variant"],"gene_symbol":"EGFR","hgnc_id":3236,"protein_id":"NP_001333827.1","intron":"26/26","biotype":"protein_coding","strand":1,"impact":"MODIFIER","transcript_id":"NM_001346898.2","variant_allele":-nan},{"variant_allele":-nan,"transcript_id":"NM_001346899.2","protein_id":"NP_001333828.1","impact":"MODIFIER","strand":1,"intron":"25/26","biotype":"protein_coding","used_ref":"C","gene_symbol_source":"EntrezGene","hgnc_id":3236,"consequence_terms":["intron_variant"],"gene_symbol":"EGFR","gene_id":"1956","given_ref":"C","source":"RefSeq"},{"given_ref":"C","source":"RefSeq","gene_id":"1956","hgnc_id":3236,"consequence_terms":["intron_variant"],"gene_symbol":"EGFR","used_ref":"C","gene_symbol_source":"EntrezGene","impact":"MODIFIER","strand":1,"biotype":"protein_coding","intron":"26/27","protein_id":"NP_001333829.1","variant_allele":-nan,"transcript_id":"NM_001346900.2"},{"variant_allele":-nan,"transcript_id":"NM_001346941.2","protein_id":"NP_001333870.1","biotype":"protein_coding","intron":"20/21","impact":"MODIFIER","strand":1,"gene_symbol_source":"EntrezGene","used_ref":"C","hgnc_id":3236,"consequence_terms":["intron_variant"],"gene_symbol":"EGFR","gene_id":"1956","given_ref":"C","source":"RefSeq"},{"transcript_id":"NM_005228.5","variant_allele":-nan,"canonical":1,"protein_id":"NP_005219.2","impact":"MODIFIER","strand":1,"intron":"26/27","biotype":"protein_coding","used_ref":"C","gene_symbol_source":"EntrezGene","consequence_terms":["intron_variant"],"gene_symbol":"EGFR","hgnc_id":3236,"gene_id":"1956","source":"RefSeq","given_ref":"C"}],"id":"523693fc-239c-4f65-8448-6b764c7e6840","input":"7\t55269675\t55269675\tC/NAN\t+\t523693fc-239c-4f65-8448-6b764c7e6840","start":55269675,"variant_class":"indel","end":55269675,"seq_region_name":"7","strand":1,"assembly_name":"GRCh37","allele_string":"C/NAN"}