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PREFIX icgc: <http://icgc.link/> PREFIX detection: <http://icgc.link/Detection/> PREFIX donor: <http://icgc.link/Donor/> PREFIX effect: <http://icgc.link/Effect/> PREFIX gene: <http://icgc.link/Gene/> PREFIX mutation: <http://icgc.link/Mutation/> PREFIX project: <http://icgc.link/Project/> PREFIX vocab: <http://icgc.link/vocab/> PREFIX ensembl: <http://identifiers.org/ensembl/> PREFIX ivocab: <inv-http://icgc.link/vocab/> PREFIX dct: <http://purl.org/dc/terms/> PREFIX rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> PREFIX rdfs: <http://www.w3.org/2000/01/rdf-schema#> PREFIX xsd: <http://www.w3.org/2001/XMLSchema#> <MutationShape> { a [ icgc:Mutation ] ; ivocab:mutation @<EffectShape> + ; ivocab:mutation @<DetectionShape> + ; vocab:assembly_version xsd:string ; vocab:chromosome xsd:string ; vocab:chromosome_end xsd:string ; vocab:chromosome_start xsd:string ; vocab:chromosome_strand xsd:string ; vocab:mutated_from_allele xsd:string ; vocab:mutated_to_allele xsd:string ; vocab:mutation_id xsd:string ; vocab:mutation_type xsd:string ; vocab:reference_genome_allele xsd:string ; dct:identifier xsd:string + ; rdfs:label xsd:string + } <EffectShape> { a [ icgc:Effect ] ; vocab:consequence_type xsd:string ; vocab:gene_affected @<AffectedGeneShape> ; vocab:gene_build_version xsd:string ; vocab:transcript_affected xsd:string } <DetectionShape> { a [ icgc:Detection ] ; vocab:alignment_algorithm xsd:string ; vocab:atched_icgc_sample_id xsd:string ; vocab:base_calling_algorithm xsd:string ; vocab:biological_validation_status xsd:string ; vocab:donor xsd:string ; vocab:experimental_protocol xsd:string ; vocab:mutant_allele_read_count xsd:string ; vocab:mutation_id xsd:string ; vocab:platform xsd:string ; vocab:project @<ProjectShape> ; vocab:raw_data_accession xsd:string ; vocab:raw_data_repository xsd:string ; vocab:seq_coverage xsd:string ; vocab:sequencing_strategy xsd:string ; vocab:specimen_id xsd:string ; vocab:submitted_matched_sample_id xsd:string ; vocab:submitted_sample_id xsd:string ; vocab:total_read_count xsd:string ; vocab:variation_calling_algorithm xsd:string ; vocab:verification_status xsd:string } <DonorIDShape> { a [ icgc:Donor ] ; vocab:age_at_diagnosis xsd:string ; vocab:age_at_enrollment xsd:string ; vocab:age_at_last_followup xsd:string ; vocab:diagnosis_icd10 xsd:string ; vocab:donor_id xsd:string ; vocab:interval_of_last_followup xsd:string ; vocab:relapse_interval xsd:string ; vocab:sex xsd:string ; vocab:survival_time xsd:string ; vocab:tumour_stage_at_diagnosis xsd:string ; vocab:vital_status xsd:string ; dct:identifier xsd:string + ; rdfs:label xsd:string + } <ProjectShape> { a [ icgc:Project ] ; vocab:countries xsd:string ; vocab:primary_site xsd:string ; vocab:project_code xsd:string ; vocab:project_name xsd:string ; dct:identifier xsd:string + ; rdfs:label xsd:string + } <AffectedGeneShape> { a [ icgc:Gene ] ; dct:identifier xsd:string + ; rdfs:label xsd:string + ; rdfs:seeAlso xsd:string + }

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