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minimal_example.out.uniprot.txt
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minimal_example.out.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 genomic_location_explanation Annotation_Status
PIK3CA 5290 GRCh37 3 178916927 178916939 + protein_altering_variant In_Frame_Del DEL TAGGCAACCGTGA G G ENST00000263967.3:c.314_326delinsG p.Val105_Glu109delinsGly p.V105_E109delinsG ENST00000263967 NM_006218.2 105 gTAGGCAACCGTGAa/gGa 2/21 SUCCESS
EGFR 1956 GRCh37 7 55220240 55220240 + splice_region_variant,synonymous_variant Splice_Region SNP G T T ENST00000275493.2:c.630G>T p.X210_splice ENST00000275493 NM_005228.3 210 ctG/ctT 6/28 SUCCESS
EGFR 1956 GRCh37 7 55242468 55242486 + protein_altering_variant In_Frame_Del DEL ATTAAGAGAAGCAACATCT AGCAA GCAA ENST00000275493.2:c.2238_2256delinsGCAA p.Leu747_Ser752delinsGln p.L747_S752delinsQ ENST00000275493 NM_005228.3 746 gaATTAAGAGAAGCAACATCT/gaGCAA 19/28 Start position changes from 55242467 to 55242468 is attributed to the presence of common bases A. Reference allele changes from AATTAAGAGAAGCAACATCT to ATTAAGAGAAGCAACATCT is attributed to the presence of common bases A. Variant allele changes from AGCAA to GCAA is attributed to the presence of common bases A. SUCCESS