Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

## : FindSubjectMolecConseqOutput - TTL Representation

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    @prefix fhir: <http://hl7.org/fhir/> .
    @prefix loinc: <https://loinc.org/rdf/> .
    @prefix owl: <http://www.w3.org/2002/07/owl#> .
    @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#> .

    # - resource -------------------------------------------------------------------

     a fhir:Parameters ;
      fhir:nodeRole fhir:treeRoot ;
      fhir:id [ fhir:v "FindSubjectMolecConseqOutput"] ; #
      fhir:parameter ( [
    fhir:name [ fhir:v "consequence" ] ;
        ( fhir:Parameters.parameter.resource [
    a fhir:Observation ;
    fhir:id [ fhir:v "MC1" ] ;
    fhir:meta [
            ( fhir:profile [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence>         ] )       ] ;
    fhir:text [
    fhir:status [ fhir:v "generated" ] ;
    fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\">NM_001395525.1:c.-281+2T&gt;C - intronic_variant:loss_of_function_variant</div>"^^rdf:XMLLiteral ]       ] ;
    fhir:status [ fhir:v "final" ] ;
          ( fhir:category [
            ( fhir:coding [
    fhir:system [
    fhir:v "http://terminology.hl7.org/CodeSystem/observation-category"^^xsd:anyURI ;
    fhir:l <http://terminology.hl7.org/CodeSystem/observation-category>           ] ;
    fhir:code [ fhir:v "laboratory" ]         ] )       ] [
            ( fhir:coding [
    fhir:system [
    fhir:v "http://terminology.hl7.org/CodeSystem/v2-0074"^^xsd:anyURI ;
    fhir:l <http://terminology.hl7.org/CodeSystem/v2-0074>           ] ;
    fhir:code [ fhir:v "GE" ]         ] )       ] ) ;
    fhir:code [
            ( fhir:coding [
    fhir:system [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs>           ] ;
    fhir:code [ fhir:v "molecular-consequence" ]         ] )       ] ;
    fhir:subject [
    fhir:l fhir:Patient/HG00403 ;
    fhir:reference [ fhir:v "Patient/HG00403" ]       ] ;
    fhir:effective [
    a fhir:DateTime ;
    fhir:v "2023-04-01"^^xsd:date       ] ;
          ( fhir:performer [
    fhir:l fhir:Organization/ExampleOrg ;
    fhir:reference [ fhir:v "Organization/ExampleOrg" ]       ] ) ;
          ( fhir:interpretation [
            ( fhir:coding [
    fhir:system [
    fhir:v "http://example.org/pcingola.github.io/SnpEff/se_inputoutput/#impact-prediction"^^xsd:anyURI ;
    fhir:l <http://example.org/pcingola.github.io/SnpEff/se_inputoutput/#impact-prediction>           ] ;
    fhir:code [ fhir:v "HIGH" ] ;
    fhir:display [ fhir:v "High" ]         ] )       ] ) ;
          ( fhir:derivedFrom [
    fhir:l fhir:Observation/variantExampleMC ;
    fhir:reference [ fhir:v "Observation/variantExampleMC" ]       ] ) ;
          ( fhir:component [
    fhir:code [
              ( fhir:coding [
    a loinc:51958-7 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>             ] ;
    fhir:code [ fhir:v "51958-7" ] ;
    fhir:display [ fhir:v "Transcript reference sequence [ID]" ]           ] )         ] ;
    fhir:value [
    a fhir:CodeableConcept ;
              ( fhir:coding [
    fhir:system [
    fhir:v "http://www.ncbi.nlm.nih.gov/refseq"^^xsd:anyURI ;
    fhir:l <http://www.ncbi.nlm.nih.gov/refseq>             ] ;
    fhir:code [ fhir:v "NM_001395525.1" ] ;
    fhir:display [ fhir:v "NM_001395525.1" ]           ] )         ]       ] [
    fhir:code [
              ( fhir:coding [
    fhir:system [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs>             ] ;
    fhir:code [ fhir:v "feature-consequence" ]           ] )         ] ;
    fhir:value [
    a fhir:CodeableConcept ;
              ( fhir:coding [
    fhir:system [
    fhir:v "http://www.sequenceontology.org"^^xsd:anyURI ;
    fhir:l <http://www.sequenceontology.org>             ] ;
    fhir:code [ fhir:v "SO:0001575" ] ;
    fhir:display [ fhir:v "splice_donor_variant" ]           ] [
    fhir:system [
    fhir:v "http://www.sequenceontology.org"^^xsd:anyURI ;
    fhir:l <http://www.sequenceontology.org>             ] ;
    fhir:code [ fhir:v "SO:0001627" ] ;
    fhir:display [ fhir:v "intron_variant" ]           ] )         ]       ] [
    fhir:code [
              ( fhir:coding [
    fhir:system [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs>             ] ;
    fhir:code [ fhir:v "functional-effect" ]           ] )         ] ;
    fhir:value [
    a fhir:CodeableConcept ;
              ( fhir:coding [
    fhir:system [
    fhir:v "http://www.sequenceontology.org"^^xsd:anyURI ;
    fhir:l <http://www.sequenceontology.org>             ] ;
    fhir:code [ fhir:v "SO_0002054" ] ;
    fhir:display [ fhir:v "loss_of_function_variant" ]           ] )         ]       ] )     ] )
      ] [
    fhir:name [ fhir:v "consequence" ] ;
        ( fhir:Parameters.parameter.resource [
    a fhir:Observation ;
    fhir:id [ fhir:v "MC2" ] ;
    fhir:meta [
            ( fhir:profile [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence>         ] )       ] ;
    fhir:text [
    fhir:status [ fhir:v "generated" ] ;
    fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\">NM_001366781.1:c.90T&gt;C - synonymous_variant</div>"^^rdf:XMLLiteral ]       ] ;
    fhir:status [ fhir:v "final" ] ;
          ( fhir:category [
            ( fhir:coding [
    fhir:system [
    fhir:v "http://terminology.hl7.org/CodeSystem/observation-category"^^xsd:anyURI ;
    fhir:l <http://terminology.hl7.org/CodeSystem/observation-category>           ] ;
    fhir:code [ fhir:v "laboratory" ]         ] )       ] [
            ( fhir:coding [
    fhir:system [
    fhir:v "http://terminology.hl7.org/CodeSystem/v2-0074"^^xsd:anyURI ;
    fhir:l <http://terminology.hl7.org/CodeSystem/v2-0074>           ] ;
    fhir:code [ fhir:v "GE" ]         ] )       ] ) ;
    fhir:code [
            ( fhir:coding [
    fhir:system [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs>           ] ;
    fhir:code [ fhir:v "molecular-consequence" ]         ] )       ] ;
    fhir:subject [
    fhir:l fhir:Patient/HG00403 ;
    fhir:reference [ fhir:v "Patient/HG00403" ]       ] ;
    fhir:effective [
    a fhir:DateTime ;
    fhir:v "2023-04-01"^^xsd:date       ] ;
          ( fhir:performer [
    fhir:l fhir:Organization/ExampleOrg ;
    fhir:reference [ fhir:v "Organization/ExampleOrg" ]       ] ) ;
          ( fhir:interpretation [
            ( fhir:coding [
    fhir:system [
    fhir:v "http://example.org/pcingola.github.io/SnpEff/se_inputoutput/#impact-prediction"^^xsd:anyURI ;
    fhir:l <http://example.org/pcingola.github.io/SnpEff/se_inputoutput/#impact-prediction>           ] ;
    fhir:code [ fhir:v "LOW" ] ;
    fhir:display [ fhir:v "Low" ]         ] )       ] ) ;
          ( fhir:derivedFrom [
    fhir:l fhir:Observation/variantExampleMC ;
    fhir:reference [ fhir:v "Observation/variantExampleMC" ]       ] ) ;
          ( fhir:component [
    fhir:code [
              ( fhir:coding [
    a loinc:48004-6 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>             ] ;
    fhir:code [ fhir:v "48004-6" ]           ] ) ;
    fhir:text [ fhir:v "coding HGVS" ]         ] ;
    fhir:value [
    a fhir:CodeableConcept ;
              ( fhir:coding [
    fhir:system [
    fhir:v "http://varnomen.hgvs.org"^^xsd:anyURI ;
    fhir:l <http://varnomen.hgvs.org>             ] ;
    fhir:code [ fhir:v "NM_001366781.1:c.90T>C" ] ;
    fhir:display [ fhir:v "NM_001366781.1:c.90T>C" ]           ] )         ]       ] [
    fhir:code [
              ( fhir:coding [
    a loinc:51958-7 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>             ] ;
    fhir:code [ fhir:v "51958-7" ] ;
    fhir:display [ fhir:v "Transcript reference sequence [ID]" ]           ] )         ] ;
    fhir:value [
    a fhir:CodeableConcept ;
              ( fhir:coding [
    fhir:system [
    fhir:v "http://www.ncbi.nlm.nih.gov/refseq"^^xsd:anyURI ;
    fhir:l <http://www.ncbi.nlm.nih.gov/refseq>             ] ;
    fhir:code [ fhir:v "NM_001366781.1" ] ;
    fhir:display [ fhir:v "NM_001366781.1" ]           ] )         ]       ] [
    fhir:code [
              ( fhir:coding [
    fhir:system [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs>             ] ;
    fhir:code [ fhir:v "feature-consequence" ]           ] )         ] ;
    fhir:value [
    a fhir:CodeableConcept ;
              ( fhir:coding [
    fhir:system [
    fhir:v "http://www.sequenceontology.org"^^xsd:anyURI ;
    fhir:l <http://www.sequenceontology.org>             ] ;
    fhir:code [ fhir:v "SO:0001819" ] ;
    fhir:display [ fhir:v "synonymous_variant" ]           ] )         ]       ] )     ] )
      ] [
    fhir:name [ fhir:v "consequence" ] ;
        ( fhir:Parameters.parameter.resource [
    a fhir:Observation ;
    fhir:id [ fhir:v "MC3" ] ;
    fhir:meta [
            ( fhir:profile [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence>         ] )       ] ;
    fhir:text [
    fhir:status [ fhir:v "generated" ] ;
    fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\">Molecular Consequence</div>"^^rdf:XMLLiteral ]       ] ;
    fhir:status [ fhir:v "final" ] ;
          ( fhir:category [
            ( fhir:coding [
    fhir:system [
    fhir:v "http://terminology.hl7.org/CodeSystem/observation-category"^^xsd:anyURI ;
    fhir:l <http://terminology.hl7.org/CodeSystem/observation-category>           ] ;
    fhir:code [ fhir:v "laboratory" ]         ] )       ] [
            ( fhir:coding [
    fhir:system [
    fhir:v "http://terminology.hl7.org/CodeSystem/v2-0074"^^xsd:anyURI ;
    fhir:l <http://terminology.hl7.org/CodeSystem/v2-0074>           ] ;
    fhir:code [ fhir:v "GE" ]         ] )       ] ) ;
    fhir:code [
            ( fhir:coding [
    fhir:system [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs>           ] ;
    fhir:code [ fhir:v "molecular-consequence" ]         ] )       ] ;
    fhir:subject [
    fhir:l fhir:Patient/HG00403 ;
    fhir:reference [ fhir:v "Patient/HG00403" ]       ] ;
    fhir:effective [
    a fhir:DateTime ;
    fhir:v "2023-04-01"^^xsd:date       ] ;
          ( fhir:performer [
    fhir:l fhir:Organization/ExampleOrg ;
    fhir:reference [ fhir:v "Organization/ExampleOrg" ]       ] ) ;
          ( fhir:interpretation [
            ( fhir:coding [
    fhir:system [
    fhir:v "http://example.org/pcingola.github.io/SnpEff/se_inputoutput/#impact-prediction"^^xsd:anyURI ;
    fhir:l <http://example.org/pcingola.github.io/SnpEff/se_inputoutput/#impact-prediction>           ] ;
    fhir:code [ fhir:v "MOD" ] ;
    fhir:display [ fhir:v "Modifier" ]         ] )       ] ) ;
          ( fhir:derivedFrom [
    fhir:l fhir:Observation/variantExampleMC ;
    fhir:reference [ fhir:v "Observation/variantExampleMC" ]       ] ) ;
          ( fhir:component [
    fhir:code [
              ( fhir:coding [
    a loinc:48004-6 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>             ] ;
    fhir:code [ fhir:v "48004-6" ]           ] ) ;
    fhir:text [ fhir:v "coding HGVS" ]         ] ;
    fhir:value [
    a fhir:CodeableConcept ;
              ( fhir:coding [
    fhir:system [
    fhir:v "http://varnomen.hgvs.org"^^xsd:anyURI ;
    fhir:l <http://varnomen.hgvs.org>             ] ;
    fhir:code [ fhir:v "NM_001395543.1:c.-171T>C" ] ;
    fhir:display [ fhir:v "NM_001395543.1:c.-171T>C" ]           ] )         ]       ] [
    fhir:code [
              ( fhir:coding [
    a loinc:51958-7 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>             ] ;
    fhir:code [ fhir:v "51958-7" ] ;
    fhir:display [ fhir:v "Transcript reference sequence [ID]" ]           ] )         ] ;
    fhir:value [
    a fhir:CodeableConcept ;
              ( fhir:coding [
    fhir:system [
    fhir:v "http://www.ncbi.nlm.nih.gov/refseq"^^xsd:anyURI ;
    fhir:l <http://www.ncbi.nlm.nih.gov/refseq>             ] ;
    fhir:code [ fhir:v "NM_001395543.1" ] ;
    fhir:display [ fhir:v "NM_001395543.1" ]           ] )         ]       ] [
    fhir:code [
              ( fhir:coding [
    fhir:system [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs>             ] ;
    fhir:code [ fhir:v "feature-consequence" ]           ] )         ] ;
    fhir:value [
    a fhir:CodeableConcept ;
              ( fhir:coding [
    fhir:system [
    fhir:v "http://www.sequenceontology.org"^^xsd:anyURI ;
    fhir:l <http://www.sequenceontology.org>             ] ;
    fhir:code [ fhir:v "SO:0001623" ] ;
    fhir:display [ fhir:v "5_prime_UTR_variant" ]           ] )         ]       ] )     ] )
      ] [
    fhir:name [ fhir:v "consequence" ] ;
        ( fhir:Parameters.parameter.resource [
    a fhir:Observation ;
    fhir:id [ fhir:v "MC4" ] ;
    fhir:meta [
            ( fhir:profile [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence>         ] )       ] ;
    fhir:text [
    fhir:status [ fhir:v "generated" ] ;
    fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\">Molecular Consequence</div>"^^rdf:XMLLiteral ]       ] ;
    fhir:status [ fhir:v "final" ] ;
          ( fhir:category [
            ( fhir:coding [
    fhir:system [
    fhir:v "http://terminology.hl7.org/CodeSystem/observation-category"^^xsd:anyURI ;
    fhir:l <http://terminology.hl7.org/CodeSystem/observation-category>           ] ;
    fhir:code [ fhir:v "laboratory" ]         ] )       ] [
            ( fhir:coding [
    fhir:system [
    fhir:v "http://terminology.hl7.org/CodeSystem/v2-0074"^^xsd:anyURI ;
    fhir:l <http://terminology.hl7.org/CodeSystem/v2-0074>           ] ;
    fhir:code [ fhir:v "GE" ]         ] )       ] ) ;
    fhir:code [
            ( fhir:coding [
    fhir:system [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs>           ] ;
    fhir:code [ fhir:v "molecular-consequence" ]         ] )       ] ;
    fhir:subject [
    fhir:l fhir:Patient/HG00403 ;
    fhir:reference [ fhir:v "Patient/HG00403" ]       ] ;
    fhir:effective [
    a fhir:DateTime ;
    fhir:v "2023-04-01"^^xsd:date       ] ;
          ( fhir:performer [
    fhir:l fhir:Organization/ExampleOrg ;
    fhir:reference [ fhir:v "Organization/ExampleOrg" ]       ] ) ;
          ( fhir:interpretation [
            ( fhir:coding [
    fhir:system [
    fhir:v "http://example.org/pcingola.github.io/SnpEff/se_inputoutput/#impact-prediction"^^xsd:anyURI ;
    fhir:l <http://example.org/pcingola.github.io/SnpEff/se_inputoutput/#impact-prediction>           ] ;
    fhir:code [ fhir:v "MOD" ] ;
    fhir:display [ fhir:v "Modifier" ]         ] )       ] ) ;
          ( fhir:derivedFrom [
    fhir:l fhir:Observation/variantExampleMC ;
    fhir:reference [ fhir:v "Observation/variantExampleMC" ]       ] ) ;
          ( fhir:component [
    fhir:code [
              ( fhir:coding [
    a loinc:51958-7 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>             ] ;
    fhir:code [ fhir:v "51958-7" ] ;
    fhir:display [ fhir:v "Transcript reference sequence [ID]" ]           ] )         ] ;
    fhir:value [
    a fhir:CodeableConcept ;
              ( fhir:coding [
    fhir:system [
    fhir:v "http://www.ncbi.nlm.nih.gov/refseq"^^xsd:anyURI ;
    fhir:l <http://www.ncbi.nlm.nih.gov/refseq>             ] ;
    fhir:code [ fhir:v "NM_001395544.1" ] ;
    fhir:display [ fhir:v "NM_001395544.1" ]           ] )         ]       ] [
    fhir:code [
              ( fhir:coding [
    fhir:system [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs>             ] ;
    fhir:code [ fhir:v "feature-consequence" ]           ] )         ] ;
    fhir:value [
    a fhir:CodeableConcept ;
              ( fhir:coding [
    fhir:system [
    fhir:v "http://www.sequenceontology.org"^^xsd:anyURI ;
    fhir:l <http://www.sequenceontology.org>             ] ;
    fhir:code [ fhir:v "SO:0001627" ] ;
    fhir:display [ fhir:v "intron_variant" ]           ] )         ]       ] )     ] )
      ] [
    fhir:name [ fhir:v "variant" ] ;
        ( fhir:Parameters.parameter.resource [
    a fhir:Observation ;
    fhir:id [ fhir:v "variantExampleMC" ] ;
    fhir:meta [
            ( fhir:profile [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant>         ] )       ] ;
    fhir:text [
    fhir:status [ fhir:v "generated" ] ;
    fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\">Variant</div>"^^rdf:XMLLiteral ]       ] ;
    fhir:status [ fhir:v "final" ] ;
          ( fhir:category [
            ( fhir:coding [
    fhir:system [
    fhir:v "http://terminology.hl7.org/CodeSystem/observation-category"^^xsd:anyURI ;
    fhir:l <http://terminology.hl7.org/CodeSystem/observation-category>           ] ;
    fhir:code [ fhir:v "laboratory" ]         ] )       ] [
            ( fhir:coding [
    fhir:system [
    fhir:v "http://terminology.hl7.org/CodeSystem/v2-0074"^^xsd:anyURI ;
    fhir:l <http://terminology.hl7.org/CodeSystem/v2-0074>           ] ;
    fhir:code [ fhir:v "GE" ]         ] )       ] ) ;
    fhir:code [
            ( fhir:coding [
    a loinc:69548-6 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>           ] ;
    fhir:code [ fhir:v "69548-6" ] ;
    fhir:display [ fhir:v "Genetic variant assessment" ]         ] )       ] ;
    fhir:subject [
    fhir:l fhir:Patient/HG00403 ;
    fhir:reference [ fhir:v "Patient/HG00403" ]       ] ;
    fhir:effective [
    a fhir:DateTime ;
    fhir:v "2023-04-01"^^xsd:date       ] ;
          ( fhir:performer [
    fhir:l fhir:Organization/ExampleOrg ;
    fhir:reference [ fhir:v "Organization/ExampleOrg" ]       ] ) ;
    fhir:value [
    a fhir:CodeableConcept ;
            ( fhir:coding [
    a loinc:LA9633-4 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>           ] ;
    fhir:code [ fhir:v "LA9633-4" ] ;
    fhir:display [ fhir:v "Present" ]         ] )       ] ;
          ( fhir:component [
    fhir:code [
              ( fhir:coding [
    a loinc:48002-0 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>             ] ;
    fhir:code [ fhir:v "48002-0" ] ;
    fhir:display [ fhir:v "Genomic source class" ]           ] )         ] ;
    fhir:value [
    a fhir:CodeableConcept ;
              ( fhir:coding [
    a loinc:LA6683-2 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>             ] ;
    fhir:code [ fhir:v "LA6683-2" ] ;
    fhir:display [ fhir:v "Germline" ]           ] )         ]       ] [
    fhir:code [
              ( fhir:coding [
    a loinc:48013-7 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>             ] ;
    fhir:code [ fhir:v "48013-7" ] ;
    fhir:display [ fhir:v "Genomic reference sequence ID" ]           ] )         ] ;
    fhir:value [
    a fhir:CodeableConcept ;
              ( fhir:coding [
    fhir:system [
    fhir:v "http://www.ncbi.nlm.nih.gov/refseq"^^xsd:anyURI ;
    fhir:l <http://www.ncbi.nlm.nih.gov/refseq>             ] ;
    fhir:code [ fhir:v "NC_000001.10" ]           ] )         ]       ] [
    fhir:code [
              ( fhir:coding [
    a loinc:53034-5 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>             ] ;
    fhir:code [ fhir:v "53034-5" ] ;
    fhir:display [ fhir:v "Allelic state" ]           ] )         ] ;
    fhir:value [
    a fhir:CodeableConcept ;
              ( fhir:coding [
    a loinc:LA6706-1 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>             ] ;
    fhir:code [ fhir:v "LA6706-1" ] ;
    fhir:display [ fhir:v "Heterozygous" ]           ] )         ]       ] [
    fhir:code [
              ( fhir:coding [
    a loinc:81252-9 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>             ] ;
    fhir:code [ fhir:v "81252-9" ] ;
    fhir:display [ fhir:v "Discrete genetic variant" ]           ] )         ] ;
    fhir:value [
    a fhir:CodeableConcept ;
              ( fhir:coding [
    fhir:system [
    fhir:v "http://varnomen.hgvs.org"^^xsd:anyURI ;
    fhir:l <http://varnomen.hgvs.org>             ] ;
    fhir:code [ fhir:v "NC_000001.10:g.86852621A>G" ] ;
    fhir:display [ fhir:v "NC_000001.10:g.86852621A>G" ]           ] )         ]       ] [
    fhir:code [
              ( fhir:coding [
    a loinc:81258-6 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>             ] ;
    fhir:code [ fhir:v "81258-6" ] ;
    fhir:display [ fhir:v "Sample VAF" ]           ] )         ] ;
    fhir:value [
    a fhir:Quantity ;
    fhir:value [ fhir:v 0.6 ] ;
    fhir:unit [ fhir:v "relative frequency of a particular allele in the specimen" ] ;
    fhir:system [
    fhir:v "http://unitsofmeasure.org"^^xsd:anyURI ;
    fhir:l <http://unitsofmeasure.org>           ] ;
    fhir:code [ fhir:v "1" ]         ]       ] [
    fhir:code [
              ( fhir:coding [
    a loinc:69547-8 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>             ] ;
    fhir:code [ fhir:v "69547-8" ] ;
    fhir:display [ fhir:v "Genomic Ref allele [ID]" ]           ] )         ] ;
    fhir:value [
    a fhir:String ;
    fhir:v "A"         ]       ] [
    fhir:code [
              ( fhir:coding [
    a loinc:69551-0 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>             ] ;
    fhir:code [ fhir:v "69551-0" ] ;
    fhir:display [ fhir:v "Genomic Alt allele [ID]" ]           ] )         ] ;
    fhir:value [
    a fhir:String ;
    fhir:v "G"         ]       ] [
    fhir:code [
              ( fhir:coding [
    a loinc:92822-6 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>             ] ;
    fhir:code [ fhir:v "92822-6" ] ;
    fhir:display [ fhir:v "Genomic coord system" ]           ] )         ] ;
    fhir:value [
    a fhir:CodeableConcept ;
              ( fhir:coding [
    a loinc:LA30100-4 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>             ] ;
    fhir:code [ fhir:v "LA30100-4" ] ;
    fhir:display [ fhir:v "0-based interval counting" ]           ] )         ]       ] [
    fhir:code [
              ( fhir:coding [
    a loinc:81254-5 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>             ] ;
    fhir:code [ fhir:v "81254-5" ] ;
    fhir:display [ fhir:v "Genomic allele start-end" ]           ] )         ] ;
    fhir:value [
    a fhir:Range ;
    fhir:low [
    fhir:value [ fhir:v "86852620"^^xsd:decimal ]           ]         ]       ] )     ] )
      ] ) . #