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6 changes: 3 additions & 3 deletions
6
annotationPipeline/src/test/resources/expected/corner_cases.mskcc.txt
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#genome_nexus_version: 1.0.2 | ||
#isoform: mskcc | ||
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 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 - - 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 ENST00000325083.8:c.476_477inv p.Asn159Ser p.N159S ENST00000325083 NM_006197.3 159 aAC/aGT 5/39 SUCCESS | ||
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 HGVSc HGVSp HGVSp_Short Transcript_ID RefSeq Protein_position Codons Exon_Number genomic_location_explanation Annotation_Status | ||
MET 4233 GRCh37 7 116411872 116411900 + splice_region_variant,intron_variant Splice_Region DEL 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 ENST00000325083.8:c.476_477inv p.Asn159Ser p.N159S ENST00000325083 NM_006197.3 159 aAC/aGT 5/39 SUCCESS |
8 changes: 4 additions & 4 deletions
8
annotationPipeline/src/test/resources/expected/corner_cases.two_tumor_seq_allele.mskcc.txt
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#genome_nexus_version: 1.0.2 | ||
#isoform: mskcc | ||
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 HGVSc HGVSp HGVSp_Short Transcript_ID RefSeq Protein_position Codons Exon_Number Annotation_Status | ||
PCM1 5108 GRCh37 8 17796382 17796383 + frameshift_variant Frame_Shift_Ins INS - AAC A ENST00000325083.8:c.476dup p.Asn159LysfsTer14 p.N159Kfs*14 ENST00000325083 NM_006197.3 159 aac/aaAc 5/39 SUCCESS | ||
KMT2D 8085 GRCh37 12 49435045 49435045 + missense_variant Missense_Mutation SNP G C C rs758743247 ENST00000301067.7:c.6508C>G p.Gln2170Glu p.Q2170E ENST00000301067 NM_003482.3 2170 Caa/Gaa 31/54 SUCCESS | ||
PCM1 5108 GRCh37 8 17796382 17796383 + missense_variant Missense_Mutation DNP AC AC GT rs754721723 ENST00000325083.8:c.476_477inv p.Asn159Ser p.N159S ENST00000325083 NM_006197.3 159 aAC/aGT 5/39 SUCCESS | ||
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 HGVSc HGVSp HGVSp_Short Transcript_ID RefSeq Protein_position Codons Exon_Number genomic_location_explanation Annotation_Status | ||
PCM1 5108 GRCh37 8 17796382 17796383 + frameshift_variant Frame_Shift_Ins INS - AAC A ENST00000325083.8:c.476dup p.Asn159LysfsTer14 p.N159Kfs*14 ENST00000325083 NM_006197.3 159 aac/aaAc 5/39 Start position changes from 17796382 to 17796383 is attributed to the presence of common bases A. Reference allele changes from AC to C is attributed to the presence of common bases A. Variant allele changes from AAC to AC is attributed to the presence of common bases A. SUCCESS | ||
KMT2D 8085 GRCh37 12 49435045 49435045 + missense_variant Missense_Mutation SNP G C C rs758743247 ENST00000301067.7:c.6508C>G p.Gln2170Glu p.Q2170E ENST00000301067 NM_003482.3 2170 Caa/Gaa 31/54 SUCCESS | ||
PCM1 5108 GRCh37 8 17796382 17796383 + missense_variant Missense_Mutation DNP AC AC GT rs754721723 ENST00000325083.8:c.476_477inv p.Asn159Ser p.N159S ENST00000325083 NM_006197.3 159 aAC/aGT 5/39 Start position changes from 17796381 to 17796382 is attributed to the presence of common bases A. Reference allele changes from AAC to AC is attributed to the presence of common bases A. Variant allele changes from AGT to GT is attributed to the presence of common bases A. SUCCESS |
8 changes: 4 additions & 4 deletions
8
annotationPipeline/src/test/resources/expected/corner_cases.two_tumor_seq_allele.uniprot.txt
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#genome_nexus_version: 1.0.2 | ||
#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 HGVSc HGVSp HGVSp_Short Transcript_ID RefSeq Protein_position Codons Exon_Number Annotation_Status | ||
PCM1 5108 GRCh37 8 17796382 17796383 + frameshift_variant Frame_Shift_Ins INS - AAC A ENST00000325083.8:c.476dup p.Asn159LysfsTer14 p.N159Kfs*14 ENST00000325083 NM_006197.3 159 aac/aaAc 5/39 SUCCESS | ||
KMT2D 8085 GRCh37 12 49435045 49435045 + missense_variant Missense_Mutation SNP G C C rs758743247 ENST00000301067.7:c.6508C>G p.Gln2170Glu p.Q2170E ENST00000301067 NM_003482.3 2170 Caa/Gaa 31/54 SUCCESS | ||
PCM1 5108 GRCh37 8 17796382 17796383 + missense_variant Missense_Mutation DNP AC AC GT rs754721723 ENST00000325083.8:c.476_477inv p.Asn159Ser p.N159S ENST00000325083 NM_006197.3 159 aAC/aGT 5/39 SUCCESS | ||
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 HGVSc HGVSp HGVSp_Short Transcript_ID RefSeq Protein_position Codons Exon_Number genomic_location_explanation Annotation_Status | ||
PCM1 5108 GRCh37 8 17796382 17796383 + frameshift_variant Frame_Shift_Ins INS - AAC A ENST00000325083.8:c.476dup p.Asn159LysfsTer14 p.N159Kfs*14 ENST00000325083 NM_006197.3 159 aac/aaAc 5/39 Start position changes from 17796382 to 17796383 is attributed to the presence of common bases A. Reference allele changes from AC to C is attributed to the presence of common bases A. Variant allele changes from AAC to AC is attributed to the presence of common bases A. SUCCESS | ||
KMT2D 8085 GRCh37 12 49435045 49435045 + missense_variant Missense_Mutation SNP G C C rs758743247 ENST00000301067.7:c.6508C>G p.Gln2170Glu p.Q2170E ENST00000301067 NM_003482.3 2170 Caa/Gaa 31/54 SUCCESS | ||
PCM1 5108 GRCh37 8 17796382 17796383 + missense_variant Missense_Mutation DNP AC AC GT rs754721723 ENST00000325083.8:c.476_477inv p.Asn159Ser p.N159S ENST00000325083 NM_006197.3 159 aAC/aGT 5/39 Start position changes from 17796381 to 17796382 is attributed to the presence of common bases A. Reference allele changes from AAC to AC is attributed to the presence of common bases A. Variant allele changes from AGT to GT is attributed to the presence of common bases A. SUCCESS |
6 changes: 3 additions & 3 deletions
6
annotationPipeline/src/test/resources/expected/corner_cases.uniprot.txt
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@@ -1,5 +1,5 @@ | ||
#genome_nexus_version: 1.0.2 | ||
#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 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 - - 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 ENST00000325083.8:c.476_477inv p.Asn159Ser p.N159S ENST00000325083 NM_006197.3 159 aAC/aGT 5/39 SUCCESS | ||
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 HGVSc HGVSp HGVSp_Short Transcript_ID RefSeq Protein_position Codons Exon_Number genomic_location_explanation Annotation_Status | ||
MET 4233 GRCh37 7 116411872 116411900 + splice_region_variant,intron_variant Splice_Region DEL 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 ENST00000325083.8:c.476_477inv p.Asn159Ser p.N159S ENST00000325083 NM_006197.3 159 aAC/aGT 5/39 SUCCESS |
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