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genome-nexus
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genome-nexus-annotation-pipeline
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8f33a67af40091600b8c13e0c9ae387ad965c7f2
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genome-nexus-annotation-pipeline
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test
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corner_cases.out.uniprot.txt
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genome-nexus-annotation-pipeline
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corner_cases.out.uniprot.txt
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#genome_nexus_version: 0-unknown-version-SNAPSHOT
#isoform: uniprot
Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Consequence Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer t_ref_count t_alt_count n_ref_count n_alt_count IGNORE_Genome_Nexus_Original_Chromosome IGNORE_Genome_Nexus_Original_Start_Position IGNORE_Genome_Nexus_Original_End_Position IGNORE_Genome_Nexus_Original_Reference_Allele IGNORE_Genome_Nexus_Original_Tumor_Seq_Allele1 IGNORE_Genome_Nexus_Original_Tumor_Seq_Allele2 HGVSc HGVSp HGVSp_Short Transcript_ID RefSeq Protein_position Codons Exon_Number Annotation_Status
MET 4233 GRCh37 7 116411872 116411900 + splice_region_variant,intron_variant Splice_Region DEL TAACAAGCTCTTTCTTTCTCTCTGTTTTA - - 7 116411872 116411900 TAACAAGCTCTTTCTTTCTCTCTGTTTTA - ENST00000397752.3:c.2888-31_2888-3del p.X963_splice ENST00000397752 NM_000245.2 963 SUCCESS
PCM1 5108 GRCh37 8 17796382 17796383 + missense_variant Missense_Mutation DNP AC GT GT rs754721723 8 17796382 17796383 AC GT ENST00000325083.8:c.476_477inv p.Asn159Ser p.N159S ENST00000325083 NM_006197.3 159 aAC/aGT 5/39 SUCCESS
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