Genomics Reporting Implementation Guide
1.1.0 - Ballot

This page is part of the Genetic Reporting Implementation Guide (v1.1.0: STU 2 Ballot 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

: Example - Multiple Oncology Variant Report Example - TTL Representation

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@prefix fhir: <http://hl7.org/fhir/> .
@prefix loinc: <http://loinc.org/rdf#> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

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

 a fhir:Bundle;
  fhir:nodeRole fhir:treeRoot;
  fhir:Resource.id [ fhir:value "oncology-report-example"];
  fhir:Bundle.type [ fhir:value "transaction"];
  fhir:Bundle.entry [
     fhir:index 0;
     fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17" ];
     fhir:Bundle.entry.resource <urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17>;
     fhir:Bundle.entry.request [
       fhir:Bundle.entry.request.method [ fhir:value "POST" ];
       fhir:Bundle.entry.request.url [ fhir:value "Organization" ];
       fhir:Bundle.entry.request.ifNoneExist [ fhir:value "identifier=http://molit.eu/fhir/genomics/NamingSystem/organization|CEGAT" ]     ]
  ], [
     fhir:index 1;
     fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648" ];
     fhir:Bundle.entry.resource <urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648>;
     fhir:Bundle.entry.request [
       fhir:Bundle.entry.request.method [ fhir:value "POST" ];
       fhir:Bundle.entry.request.url [ fhir:value "Patient" ];
       fhir:Bundle.entry.request.ifNoneExist [ fhir:value "identifier=http://molit.eu/fhir/genomics/NamingSystem/cegat/patID|11111" ]     ]
  ], [
     fhir:index 2;
     fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:a2041c83-b73d-4fc8-9466-4ba4a92da516" ];
     fhir:Bundle.entry.resource <urn:uuid:a2041c83-b73d-4fc8-9466-4ba4a92da516>;
     fhir:Bundle.entry.request [
       fhir:Bundle.entry.request.method [ fhir:value "POST" ];
       fhir:Bundle.entry.request.url [ fhir:value "Specimen" ];
       fhir:Bundle.entry.request.ifNoneExist [ fhir:value "identifier=http://molit.eu/fhir/genomics/NamingSystem/cegat/tissueID|UNKNOWN" ]     ]
  ], [
     fhir:index 3;
     fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:dac358c3-403a-4dbb-b478-4259aed882ae" ];
     fhir:Bundle.entry.resource <urn:uuid:dac358c3-403a-4dbb-b478-4259aed882ae>;
     fhir:Bundle.entry.request [
       fhir:Bundle.entry.request.method [ fhir:value "POST" ];
       fhir:Bundle.entry.request.url [ fhir:value "Observation" ]     ]
  ], [
     fhir:index 4;
     fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:1d773d66-cec7-44a2-b92a-46d00adeae00" ];
     fhir:Bundle.entry.resource <urn:uuid:1d773d66-cec7-44a2-b92a-46d00adeae00>;
     fhir:Bundle.entry.request [
       fhir:Bundle.entry.request.method [ fhir:value "POST" ];
       fhir:Bundle.entry.request.url [ fhir:value "Observation" ]     ]
  ], [
     fhir:index 5;
     fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:842d9ab9-d940-4f0c-adf9-e5c528f5c0e5" ];
     fhir:Bundle.entry.resource <urn:uuid:842d9ab9-d940-4f0c-adf9-e5c528f5c0e5>;
     fhir:Bundle.entry.request [
       fhir:Bundle.entry.request.method [ fhir:value "POST" ];
       fhir:Bundle.entry.request.url [ fhir:value "Observation" ]     ]
  ], [
     fhir:index 6;
     fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:9a9f9a4a-52e3-4738-bd0b-a25374bbf358" ];
     fhir:Bundle.entry.resource <urn:uuid:9a9f9a4a-52e3-4738-bd0b-a25374bbf358>;
     fhir:Bundle.entry.request [
       fhir:Bundle.entry.request.method [ fhir:value "POST" ];
       fhir:Bundle.entry.request.url [ fhir:value "Observation" ]     ]
  ], [
     fhir:index 7;
     fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:58828523-8893-45fc-973b-16290366c5e5" ];
     fhir:Bundle.entry.resource <urn:uuid:58828523-8893-45fc-973b-16290366c5e5>;
     fhir:Bundle.entry.request [
       fhir:Bundle.entry.request.method [ fhir:value "POST" ];
       fhir:Bundle.entry.request.url [ fhir:value "Observation" ]     ]
  ], [
     fhir:index 8;
     fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:2c28b23f-3e9f-4c03-8c8f-0e76bc5dc9c2" ];
     fhir:Bundle.entry.resource <urn:uuid:2c28b23f-3e9f-4c03-8c8f-0e76bc5dc9c2>;
     fhir:Bundle.entry.request [
       fhir:Bundle.entry.request.method [ fhir:value "POST" ];
       fhir:Bundle.entry.request.url [ fhir:value "Observation" ]     ]
  ], [
     fhir:index 9;
     fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:41bebbe5-e06f-4867-aa22-7c06db69dbd1" ];
     fhir:Bundle.entry.resource <urn:uuid:41bebbe5-e06f-4867-aa22-7c06db69dbd1>;
     fhir:Bundle.entry.request [
       fhir:Bundle.entry.request.method [ fhir:value "POST" ];
       fhir:Bundle.entry.request.url [ fhir:value "Observation" ]     ]
  ], [
     fhir:index 10;
     fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:1642f190-e2c6-4999-8040-b9b2a70618bf" ];
     fhir:Bundle.entry.resource <urn:uuid:1642f190-e2c6-4999-8040-b9b2a70618bf>;
     fhir:Bundle.entry.request [
       fhir:Bundle.entry.request.method [ fhir:value "POST" ];
       fhir:Bundle.entry.request.url [ fhir:value "Observation" ]     ]
  ], [
     fhir:index 11;
     fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:c3587931-242f-4129-93f9-be24500c8f29" ];
     fhir:Bundle.entry.resource <urn:uuid:c3587931-242f-4129-93f9-be24500c8f29>;
     fhir:Bundle.entry.request [
       fhir:Bundle.entry.request.method [ fhir:value "POST" ];
       fhir:Bundle.entry.request.url [ fhir:value "Observation" ]     ]
  ], [
     fhir:index 12;
     fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:41695fc0-1fd5-4cc8-95e6-82b2848a5cb6" ];
     fhir:Bundle.entry.resource <urn:uuid:41695fc0-1fd5-4cc8-95e6-82b2848a5cb6>;
     fhir:Bundle.entry.request [
       fhir:Bundle.entry.request.method [ fhir:value "POST" ];
       fhir:Bundle.entry.request.url [ fhir:value "Observation" ]     ]
  ], [
     fhir:index 13;
     fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:58eb14f6-4059-4168-86a9-155ae61d30e2" ];
     fhir:Bundle.entry.resource <urn:uuid:58eb14f6-4059-4168-86a9-155ae61d30e2>;
     fhir:Bundle.entry.request [
       fhir:Bundle.entry.request.method [ fhir:value "POST" ];
       fhir:Bundle.entry.request.url [ fhir:value "Observation" ]     ]
  ], [
     fhir:index 14;
     fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:1a71e80f-b044-4a91-80e1-eadbe5a53dca" ];
     fhir:Bundle.entry.resource <urn:uuid:1a71e80f-b044-4a91-80e1-eadbe5a53dca>;
     fhir:Bundle.entry.request [
       fhir:Bundle.entry.request.method [ fhir:value "POST" ];
       fhir:Bundle.entry.request.url [ fhir:value "Observation" ]     ]
  ], [
     fhir:index 15;
     fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:6a80003f-822d-489e-8286-1f1dcba56dfa" ];
     fhir:Bundle.entry.resource <urn:uuid:6a80003f-822d-489e-8286-1f1dcba56dfa>;
     fhir:Bundle.entry.request [
       fhir:Bundle.entry.request.method [ fhir:value "POST" ];
       fhir:Bundle.entry.request.url [ fhir:value "DiagnosticReport" ]     ]
  ].

<urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17> a fhir:Organization;
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><p><b>identifier</b>: id: CEGAT</p><p><b>name</b>: CEGAT</p></div>"
  ];
  fhir:Organization.identifier [
     fhir:index 0;
     fhir:Identifier.system [ fhir:value "http://molit.eu/fhir/genomics/NamingSystem/organization" ];
     fhir:Identifier.value [ fhir:value "CEGAT" ]
  ];
  fhir:Organization.name [ fhir:value "CEGAT"].

<urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648> a fhir:Patient;
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><p><b>identifier</b>: id: 11111</p></div>"
  ];
  fhir:Patient.identifier [
     fhir:index 0;
     fhir:Identifier.system [ fhir:value "http://molit.eu/fhir/genomics/NamingSystem/cegat/patID" ];
     fhir:Identifier.value [ fhir:value "11111" ]
  ].

<urn:uuid:a2041c83-b73d-4fc8-9466-4ba4a92da516> a fhir:Specimen;
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><p><b>identifier</b>: id: UNKNOWN</p><p><b>type</b>: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/v2-0487 TUMOR}\">Tumor</span></p><p><b>subject</b>: <a href=\"#urnuuidf7a438e6-f484-453d-97e8-aa4d51008648\">See above (Patient/null)</a></p><h3>Collections</h3><table class=\"grid\"><tr><td>-</td><td><b>Method</b></td><td><b>BodySite</b></td></tr><tr><td>*</td><td><span title=\"Codes: {http://molit.eu/fhir/IG_TODO Biopsy}\">Biopsie</span></td><td><span title=\"Codes: {http://example.org/fhir/sid/icd-9-cm C16.0}\">C16.0</span></td></tr></table></div>"
  ];
  fhir:Specimen.identifier [
     fhir:index 0;
     fhir:Identifier.system [ fhir:value "http://molit.eu/fhir/genomics/NamingSystem/cegat/tissueID" ];
     fhir:Identifier.value [ fhir:value "UNKNOWN" ]
  ];
  fhir:Specimen.type [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0487" ];
       fhir:Coding.code [ fhir:value "TUMOR" ];
       fhir:Coding.display [ fhir:value "Tumor" ]     ]
  ];
  fhir:Specimen.subject [
     fhir:Reference.reference [ fhir:value "urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648" ]
  ];
  fhir:Specimen.collection [
     fhir:Specimen.collection.method [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://molit.eu/fhir/IG_TODO" ];
         fhir:Coding.code [ fhir:value "Biopsy" ];
         fhir:Coding.display [ fhir:value "Biopsie" ]       ]     ];
     fhir:Specimen.collection.bodySite [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://example.org/fhir/sid/icd-9-cm" ];
         fhir:Coding.code [ fhir:value "C16.0" ]       ]     ]
  ].

<urn:uuid:dac358c3-403a-4dbb-b478-4259aed882ae> a fhir:Observation;
  fhir:Resource.meta [
     fhir:Meta.profile [
       fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant";
       fhir:index 0;
       fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant>     ]
  ];
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><p></p><p><b>category</b>: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"#urnuuidf7a438e6-f484-453d-97e8-aa4d51008648\">See above (Patient/null)</a></p><p><b>performer</b>: <a href=\"#urnuuidfc16d84c-8584-4e1d-baae-64e2f95bfe17\">See above (Organization/null)</a></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></p><p><b>specimen</b>: <span></span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48002-0}\">Genomic source class</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA6684-0}\">Somatic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes: {http://www.genenames.org/geneId HGNC:8975}\">PIK3CA</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 62374-4}\">Human reference sequence assembly version</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA14029-5}\">GRCh37</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title=\"Codes: {http://varnomen.hgvs.org c.3140A&gt;G}\">c.3140A&gt;G</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes: {http://www.sequenceontology.org SO:1000002}\">substitution</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48005-3}\">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title=\"Codes: {http://varnomen.hgvs.org p.H1047R}\">p.H1047R</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes molecular-consequence}\">Molecular Consequence</span></p><p><b>value</b>: <span title=\"Codes: {http://www.sequenceontology.org SO:0001583}\">missense_variant</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes: {http://www.ncbi.nlm.nih.gov/refseq NM_006218.3}\">NM_006218.3</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 69547-8}\">Genomic ref allele [ID]</span></p><p><b>value</b>: A</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 81258-6}\">Sample VAF</span></p><p><b>value</b>: 0.2188 relative frequency of a particular allele in the specimen</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 82121-5}\">Allelic read depth</span></p><p><b>value</b>: 64.0 reads per base pair</p></blockquote></div>"
  ];
  fhir:Observation.status [ fhir:value "final"];
  fhir:Observation.category [
     fhir:index 0;
     fhir:CodeableConcept.coding [
       fhir:index 0;
       fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/observation-category" ];
       fhir:Coding.code [ fhir:value "laboratory" ]     ]
  ];
  fhir:Observation.code [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:69548-6;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "69548-6" ];
       fhir:Coding.display [ fhir:value "Genetic variant assessment" ]     ]
  ];
  fhir:Observation.subject [
     fhir:Reference.reference [ fhir:value "urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648" ]
  ];
  fhir:Observation.performer [
     fhir:index 0;
     fhir:Reference.reference [ fhir:value "urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17" ]
  ];
  fhir:Observation.valueCodeableConcept [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:LA9633-4;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "LA9633-4" ];
       fhir:Coding.display [ fhir:value "Present" ]     ]
  ];
  fhir:Observation.method [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:LA26398-0;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "LA26398-0" ];
       fhir:Coding.display [ fhir:value "Sequencing" ]     ]
  ];
  fhir:Observation.specimen [
     fhir:Reference.identifier [
       fhir:Identifier.system [ fhir:value "http://molit.eu/fhir/genomics/NamingSystem/cegat/tissueID" ];
       fhir:Identifier.value [ fhir:value "UNKNOWN" ]     ]
  ];
  fhir:Observation.component [
     fhir:index 0;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48002-0;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48002-0" ];
         fhir:Coding.display [ fhir:value "Genomic source class" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:LA6684-0;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "LA6684-0" ];
         fhir:Coding.display [ fhir:value "Somatic" ]       ]     ]
  ], [
     fhir:index 1;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48018-6;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48018-6" ];
         fhir:Coding.display [ fhir:value "Gene studied [ID]" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.genenames.org/geneId" ];
         fhir:Coding.code [ fhir:value "HGNC:8975" ];
         fhir:Coding.display [ fhir:value "PIK3CA" ]       ]     ]
  ], [
     fhir:index 2;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:62374-4;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "62374-4" ];
         fhir:Coding.display [ fhir:value "Human reference sequence assembly version" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:LA14029-5;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "LA14029-5" ];
         fhir:Coding.display [ fhir:value "GRCh37" ]       ]     ]
  ], [
     fhir:index 3;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48004-6;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48004-6" ];
         fhir:Coding.display [ fhir:value "DNA change (c.HGVS)" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ];
         fhir:Coding.code [ fhir:value "c.3140A>G" ];
         fhir:Coding.display [ fhir:value "c.3140A>G" ]       ]     ]
  ], [
     fhir:index 4;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48019-4;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48019-4" ];
         fhir:Coding.display [ fhir:value "DNA change type" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ];
         fhir:Coding.code [ fhir:value "SO:1000002" ];
         fhir:Coding.display [ fhir:value "substitution" ]       ]     ]
  ], [
     fhir:index 5;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48005-3;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48005-3" ];
         fhir:Coding.display [ fhir:value "Amino acid change (pHGVS)" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ];
         fhir:Coding.code [ fhir:value "p.H1047R" ];
         fhir:Coding.display [ fhir:value "p.H1047R" ]       ]     ]
  ], [
     fhir:index 6;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes" ];
         fhir:Coding.code [ fhir:value "molecular-consequence" ];
         fhir:Coding.display [ fhir:value "Molecular Consequence" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ];
         fhir:Coding.code [ fhir:value "SO:0001583" ];
         fhir:Coding.display [ fhir:value "missense_variant" ]       ]     ]
  ], [
     fhir:index 7;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:51958-7;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "51958-7" ];
         fhir:Coding.display [ fhir:value "Transcript reference sequence [ID]" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/refseq" ];
         fhir:Coding.code [ fhir:value "NM_006218.3" ];
         fhir:Coding.display [ fhir:value "NM_006218.3" ]       ]     ]
  ], [
     fhir:index 8;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:69547-8;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "69547-8" ];
         fhir:Coding.display [ fhir:value "Genomic ref allele [ID]" ]       ]     ];
     fhir:Observation.component.valueString [ fhir:value "A" ]
  ], [
     fhir:index 9;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:81258-6;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "81258-6" ];
         fhir:Coding.display [ fhir:value "Sample VAF" ]       ]     ];
     fhir:Observation.component.valueQuantity [
       fhir:Quantity.value [ fhir:value "0.2188"^^xsd:decimal ];
       fhir:Quantity.unit [ fhir:value "relative frequency of a particular allele in the specimen" ];
       fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ];
       fhir:Quantity.code [ fhir:value "1" ]     ]
  ], [
     fhir:index 10;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:82121-5;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "82121-5" ];
         fhir:Coding.display [ fhir:value "Allelic read depth" ]       ]     ];
     fhir:Observation.component.valueQuantity [
       fhir:Quantity.value [ fhir:value "64.0"^^xsd:decimal ];
       fhir:Quantity.unit [ fhir:value "reads per base pair" ];
       fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ];
       fhir:Quantity.code [ fhir:value "{reads}/{base}" ]     ]
  ].

<urn:uuid:1d773d66-cec7-44a2-b92a-46d00adeae00> a fhir:Observation;
  fhir:Resource.meta [
     fhir:Meta.profile [
       fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant";
       fhir:index 0;
       fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant>     ]
  ];
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><p></p><p><b>category</b>: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"#urnuuidf7a438e6-f484-453d-97e8-aa4d51008648\">See above (Patient/null)</a></p><p><b>performer</b>: <a href=\"#urnuuidfc16d84c-8584-4e1d-baae-64e2f95bfe17\">See above (Organization/null)</a></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></p><p><b>specimen</b>: <span></span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48002-0}\">Genomic source class</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA6684-0}\">Somatic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes: {http://www.genenames.org/geneId HGNC:7989}\">NRAS</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 62374-4}\">Human reference sequence assembly version</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA14029-5}\">GRCh37</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title=\"Codes: {http://varnomen.hgvs.org c.34G&gt;T}\">c.34G&gt;T</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes: {http://www.sequenceontology.org SO:1000002}\">substitution</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48005-3}\">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title=\"Codes: {http://varnomen.hgvs.org p.G12C}\">p.G12C</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes molecular-consequence}\">Molecular Consequence</span></p><p><b>value</b>: <span title=\"Codes: {http://www.sequenceontology.org SO:0001583}\">missense_variant</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes: {http://www.ncbi.nlm.nih.gov/refseq NM_002524.4}\">NM_002524.4</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 69547-8}\">Genomic ref allele [ID]</span></p><p><b>value</b>: C</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 81258-6}\">Sample VAF</span></p><p><b>value</b>: 0.1793 relative frequency of a particular allele in the specimen</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 82121-5}\">Allelic read depth</span></p><p><b>value</b>: 145.0 reads per base pair</p></blockquote></div>"
  ];
  fhir:Observation.status [ fhir:value "final"];
  fhir:Observation.category [
     fhir:index 0;
     fhir:CodeableConcept.coding [
       fhir:index 0;
       fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/observation-category" ];
       fhir:Coding.code [ fhir:value "laboratory" ]     ]
  ];
  fhir:Observation.code [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:69548-6;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "69548-6" ];
       fhir:Coding.display [ fhir:value "Genetic variant assessment" ]     ]
  ];
  fhir:Observation.subject [
     fhir:Reference.reference [ fhir:value "urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648" ]
  ];
  fhir:Observation.performer [
     fhir:index 0;
     fhir:Reference.reference [ fhir:value "urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17" ]
  ];
  fhir:Observation.valueCodeableConcept [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:LA9633-4;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "LA9633-4" ];
       fhir:Coding.display [ fhir:value "Present" ]     ]
  ];
  fhir:Observation.method [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:LA26398-0;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "LA26398-0" ];
       fhir:Coding.display [ fhir:value "Sequencing" ]     ]
  ];
  fhir:Observation.specimen [
     fhir:Reference.identifier [
       fhir:Identifier.system [ fhir:value "http://molit.eu/fhir/genomics/NamingSystem/cegat/tissueID" ];
       fhir:Identifier.value [ fhir:value "UNKNOWN" ]     ]
  ];
  fhir:Observation.component [
     fhir:index 0;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48002-0;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48002-0" ];
         fhir:Coding.display [ fhir:value "Genomic source class" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:LA6684-0;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "LA6684-0" ];
         fhir:Coding.display [ fhir:value "Somatic" ]       ]     ]
  ], [
     fhir:index 1;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48018-6;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48018-6" ];
         fhir:Coding.display [ fhir:value "Gene studied [ID]" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.genenames.org/geneId" ];
         fhir:Coding.code [ fhir:value "HGNC:7989" ];
         fhir:Coding.display [ fhir:value "NRAS" ]       ]     ]
  ], [
     fhir:index 2;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:62374-4;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "62374-4" ];
         fhir:Coding.display [ fhir:value "Human reference sequence assembly version" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:LA14029-5;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "LA14029-5" ];
         fhir:Coding.display [ fhir:value "GRCh37" ]       ]     ]
  ], [
     fhir:index 3;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48004-6;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48004-6" ];
         fhir:Coding.display [ fhir:value "DNA change (c.HGVS)" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ];
         fhir:Coding.code [ fhir:value "c.34G>T" ];
         fhir:Coding.display [ fhir:value "c.34G>T" ]       ]     ]
  ], [
     fhir:index 4;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48019-4;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48019-4" ];
         fhir:Coding.display [ fhir:value "DNA change type" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ];
         fhir:Coding.code [ fhir:value "SO:1000002" ];
         fhir:Coding.display [ fhir:value "substitution" ]       ]     ]
  ], [
     fhir:index 5;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48005-3;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48005-3" ];
         fhir:Coding.display [ fhir:value "Amino acid change (pHGVS)" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ];
         fhir:Coding.code [ fhir:value "p.G12C" ];
         fhir:Coding.display [ fhir:value "p.G12C" ]       ]     ]
  ], [
     fhir:index 6;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes" ];
         fhir:Coding.code [ fhir:value "molecular-consequence" ];
         fhir:Coding.display [ fhir:value "Molecular Consequence" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ];
         fhir:Coding.code [ fhir:value "SO:0001583" ];
         fhir:Coding.display [ fhir:value "missense_variant" ]       ]     ]
  ], [
     fhir:index 7;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:51958-7;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "51958-7" ];
         fhir:Coding.display [ fhir:value "Transcript reference sequence [ID]" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/refseq" ];
         fhir:Coding.code [ fhir:value "NM_002524.4" ];
         fhir:Coding.display [ fhir:value "NM_002524.4" ]       ]     ]
  ], [
     fhir:index 8;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:69547-8;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "69547-8" ];
         fhir:Coding.display [ fhir:value "Genomic ref allele [ID]" ]       ]     ];
     fhir:Observation.component.valueString [ fhir:value "C" ]
  ], [
     fhir:index 9;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:81258-6;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "81258-6" ];
         fhir:Coding.display [ fhir:value "Sample VAF" ]       ]     ];
     fhir:Observation.component.valueQuantity [
       fhir:Quantity.value [ fhir:value "0.1793"^^xsd:decimal ];
       fhir:Quantity.unit [ fhir:value "relative frequency of a particular allele in the specimen" ];
       fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ];
       fhir:Quantity.code [ fhir:value "1" ]     ]
  ], [
     fhir:index 10;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:82121-5;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "82121-5" ];
         fhir:Coding.display [ fhir:value "Allelic read depth" ]       ]     ];
     fhir:Observation.component.valueQuantity [
       fhir:Quantity.value [ fhir:value "145.0"^^xsd:decimal ];
       fhir:Quantity.unit [ fhir:value "reads per base pair" ];
       fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ];
       fhir:Quantity.code [ fhir:value "{reads}/{base}" ]     ]
  ].

<urn:uuid:842d9ab9-d940-4f0c-adf9-e5c528f5c0e5> a fhir:Observation;
  fhir:Resource.meta [
     fhir:Meta.profile [
       fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant";
       fhir:index 0;
       fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant>     ]
  ];
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><p></p><p><b>category</b>: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"#urnuuidf7a438e6-f484-453d-97e8-aa4d51008648\">See above (Patient/null)</a></p><p><b>performer</b>: <a href=\"#urnuuidfc16d84c-8584-4e1d-baae-64e2f95bfe17\">See above (Organization/null)</a></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></p><p><b>specimen</b>: <span></span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48002-0}\">Genomic source class</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA6684-0}\">Somatic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes: {http://www.genenames.org/geneId HGNC:16712}\">FBXW7</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 62374-4}\">Human reference sequence assembly version</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA14029-5}\">GRCh37</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title=\"Codes: {http://varnomen.hgvs.org c.1394G&gt;A}\">c.1394G&gt;A</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes: {http://www.sequenceontology.org SO:1000002}\">substitution</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48005-3}\">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title=\"Codes: {http://varnomen.hgvs.org p.R465H}\">p.R465H</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes molecular-consequence}\">Molecular Consequence</span></p><p><b>value</b>: <span title=\"Codes: {http://www.sequenceontology.org SO:0001583}\">missense_variant</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes: {http://www.ncbi.nlm.nih.gov/refseq NM_001349798.2}\">NM_001349798.2</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 69547-8}\">Genomic ref allele [ID]</span></p><p><b>value</b>: C</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 81258-6}\">Sample VAF</span></p><p><b>value</b>: 0.1053 relative frequency of a particular allele in the specimen</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 82121-5}\">Allelic read depth</span></p><p><b>value</b>: 57.0 reads per base pair</p></blockquote></div>"
  ];
  fhir:Observation.status [ fhir:value "final"];
  fhir:Observation.category [
     fhir:index 0;
     fhir:CodeableConcept.coding [
       fhir:index 0;
       fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/observation-category" ];
       fhir:Coding.code [ fhir:value "laboratory" ]     ]
  ];
  fhir:Observation.code [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:69548-6;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "69548-6" ];
       fhir:Coding.display [ fhir:value "Genetic variant assessment" ]     ]
  ];
  fhir:Observation.subject [
     fhir:Reference.reference [ fhir:value "urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648" ]
  ];
  fhir:Observation.performer [
     fhir:index 0;
     fhir:Reference.reference [ fhir:value "urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17" ]
  ];
  fhir:Observation.valueCodeableConcept [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:LA9633-4;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "LA9633-4" ];
       fhir:Coding.display [ fhir:value "Present" ]     ]
  ];
  fhir:Observation.method [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:LA26398-0;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "LA26398-0" ];
       fhir:Coding.display [ fhir:value "Sequencing" ]     ]
  ];
  fhir:Observation.specimen [
     fhir:Reference.identifier [
       fhir:Identifier.system [ fhir:value "http://molit.eu/fhir/genomics/NamingSystem/cegat/tissueID" ];
       fhir:Identifier.value [ fhir:value "UNKNOWN" ]     ]
  ];
  fhir:Observation.component [
     fhir:index 0;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48002-0;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48002-0" ];
         fhir:Coding.display [ fhir:value "Genomic source class" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:LA6684-0;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "LA6684-0" ];
         fhir:Coding.display [ fhir:value "Somatic" ]       ]     ]
  ], [
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         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48018-6" ];
         fhir:Coding.display [ fhir:value "Gene studied [ID]" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
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         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.genenames.org/geneId" ];
         fhir:Coding.code [ fhir:value "HGNC:16712" ];
         fhir:Coding.display [ fhir:value "FBXW7" ]       ]     ]
  ], [
     fhir:index 2;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:62374-4;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "62374-4" ];
         fhir:Coding.display [ fhir:value "Human reference sequence assembly version" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:LA14029-5;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "LA14029-5" ];
         fhir:Coding.display [ fhir:value "GRCh37" ]       ]     ]
  ], [
     fhir:index 3;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48004-6;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48004-6" ];
         fhir:Coding.display [ fhir:value "DNA change (c.HGVS)" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ];
         fhir:Coding.code [ fhir:value "c.1394G>A" ];
         fhir:Coding.display [ fhir:value "c.1394G>A" ]       ]     ]
  ], [
     fhir:index 4;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48019-4;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48019-4" ];
         fhir:Coding.display [ fhir:value "DNA change type" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ];
         fhir:Coding.code [ fhir:value "SO:1000002" ];
         fhir:Coding.display [ fhir:value "substitution" ]       ]     ]
  ], [
     fhir:index 5;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48005-3;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48005-3" ];
         fhir:Coding.display [ fhir:value "Amino acid change (pHGVS)" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ];
         fhir:Coding.code [ fhir:value "p.R465H" ];
         fhir:Coding.display [ fhir:value "p.R465H" ]       ]     ]
  ], [
     fhir:index 6;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes" ];
         fhir:Coding.code [ fhir:value "molecular-consequence" ];
         fhir:Coding.display [ fhir:value "Molecular Consequence" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ];
         fhir:Coding.code [ fhir:value "SO:0001583" ];
         fhir:Coding.display [ fhir:value "missense_variant" ]       ]     ]
  ], [
     fhir:index 7;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:51958-7;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "51958-7" ];
         fhir:Coding.display [ fhir:value "Transcript reference sequence [ID]" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/refseq" ];
         fhir:Coding.code [ fhir:value "NM_001349798.2" ];
         fhir:Coding.display [ fhir:value "NM_001349798.2" ]       ]     ]
  ], [
     fhir:index 8;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:69547-8;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "69547-8" ];
         fhir:Coding.display [ fhir:value "Genomic ref allele [ID]" ]       ]     ];
     fhir:Observation.component.valueString [ fhir:value "C" ]
  ], [
     fhir:index 9;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:81258-6;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "81258-6" ];
         fhir:Coding.display [ fhir:value "Sample VAF" ]       ]     ];
     fhir:Observation.component.valueQuantity [
       fhir:Quantity.value [ fhir:value "0.1053"^^xsd:decimal ];
       fhir:Quantity.unit [ fhir:value "relative frequency of a particular allele in the specimen" ];
       fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ];
       fhir:Quantity.code [ fhir:value "1" ]     ]
  ], [
     fhir:index 10;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:82121-5;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "82121-5" ];
         fhir:Coding.display [ fhir:value "Allelic read depth" ]       ]     ];
     fhir:Observation.component.valueQuantity [
       fhir:Quantity.value [ fhir:value "57.0"^^xsd:decimal ];
       fhir:Quantity.unit [ fhir:value "reads per base pair" ];
       fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ];
       fhir:Quantity.code [ fhir:value "{reads}/{base}" ]     ]
  ].

<urn:uuid:9a9f9a4a-52e3-4738-bd0b-a25374bbf358> a fhir:Observation;
  fhir:Resource.meta [
     fhir:Meta.profile [
       fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant";
       fhir:index 0;
       fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant>     ]
  ];
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><p></p><p><b>category</b>: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"#urnuuidf7a438e6-f484-453d-97e8-aa4d51008648\">See above (Patient/null)</a></p><p><b>performer</b>: <a href=\"#urnuuidfc16d84c-8584-4e1d-baae-64e2f95bfe17\">See above (Organization/null)</a></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></p><p><b>specimen</b>: <span></span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48002-0}\">Genomic source class</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA6684-0}\">Somatic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes: {http://www.genenames.org/geneId HGNC:7133}\">KMT2D</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 62374-4}\">Human reference sequence assembly version</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA14029-5}\">GRCh37</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title=\"Codes: {http://varnomen.hgvs.org c.7900_7901delCA}\">c.7900_7901delCA</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes: {http://www.sequenceontology.org SO:0000159}\">deletion</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48005-3}\">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title=\"Codes: {http://varnomen.hgvs.org p.Q2634Afs*20}\">p.Q2634Afs*20</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes molecular-consequence}\">Molecular Consequence</span></p><p><b>value</b>: <span title=\"Codes: {http://www.sequenceontology.org SO:0000865}\">frameshift</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes: {http://www.ncbi.nlm.nih.gov/refseq NM_003482.3}\">NM_003482.3</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 69547-8}\">Genomic ref allele [ID]</span></p><p><b>value</b>: CTG</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 81258-6}\">Sample VAF</span></p><p><b>value</b>: 0.188 relative frequency of a particular allele in the specimen</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 82121-5}\">Allelic read depth</span></p><p><b>value</b>: 117.0 reads per base pair</p></blockquote></div>"
  ];
  fhir:Observation.status [ fhir:value "final"];
  fhir:Observation.category [
     fhir:index 0;
     fhir:CodeableConcept.coding [
       fhir:index 0;
       fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/observation-category" ];
       fhir:Coding.code [ fhir:value "laboratory" ]     ]
  ];
  fhir:Observation.code [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:69548-6;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "69548-6" ];
       fhir:Coding.display [ fhir:value "Genetic variant assessment" ]     ]
  ];
  fhir:Observation.subject [
     fhir:Reference.reference [ fhir:value "urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648" ]
  ];
  fhir:Observation.performer [
     fhir:index 0;
     fhir:Reference.reference [ fhir:value "urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17" ]
  ];
  fhir:Observation.valueCodeableConcept [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:LA9633-4;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "LA9633-4" ];
       fhir:Coding.display [ fhir:value "Present" ]     ]
  ];
  fhir:Observation.method [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:LA26398-0;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "LA26398-0" ];
       fhir:Coding.display [ fhir:value "Sequencing" ]     ]
  ];
  fhir:Observation.specimen [
     fhir:Reference.identifier [
       fhir:Identifier.system [ fhir:value "http://molit.eu/fhir/genomics/NamingSystem/cegat/tissueID" ];
       fhir:Identifier.value [ fhir:value "UNKNOWN" ]     ]
  ];
  fhir:Observation.component [
     fhir:index 0;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48002-0;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48002-0" ];
         fhir:Coding.display [ fhir:value "Genomic source class" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:LA6684-0;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "LA6684-0" ];
         fhir:Coding.display [ fhir:value "Somatic" ]       ]     ]
  ], [
     fhir:index 1;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48018-6;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48018-6" ];
         fhir:Coding.display [ fhir:value "Gene studied [ID]" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.genenames.org/geneId" ];
         fhir:Coding.code [ fhir:value "HGNC:7133" ];
         fhir:Coding.display [ fhir:value "KMT2D" ]       ]     ]
  ], [
     fhir:index 2;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:62374-4;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "62374-4" ];
         fhir:Coding.display [ fhir:value "Human reference sequence assembly version" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:LA14029-5;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "LA14029-5" ];
         fhir:Coding.display [ fhir:value "GRCh37" ]       ]     ]
  ], [
     fhir:index 3;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48004-6;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48004-6" ];
         fhir:Coding.display [ fhir:value "DNA change (c.HGVS)" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ];
         fhir:Coding.code [ fhir:value "c.7900_7901delCA" ];
         fhir:Coding.display [ fhir:value "c.7900_7901delCA" ]       ]     ]
  ], [
     fhir:index 4;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48019-4;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48019-4" ];
         fhir:Coding.display [ fhir:value "DNA change type" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ];
         fhir:Coding.code [ fhir:value "SO:0000159" ];
         fhir:Coding.display [ fhir:value "deletion" ]       ]     ]
  ], [
     fhir:index 5;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48005-3;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48005-3" ];
         fhir:Coding.display [ fhir:value "Amino acid change (pHGVS)" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ];
         fhir:Coding.code [ fhir:value "p.Q2634Afs*20" ];
         fhir:Coding.display [ fhir:value "p.Q2634Afs*20" ]       ]     ]
  ], [
     fhir:index 6;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes" ];
         fhir:Coding.code [ fhir:value "molecular-consequence" ];
         fhir:Coding.display [ fhir:value "Molecular Consequence" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ];
         fhir:Coding.code [ fhir:value "SO:0000865" ];
         fhir:Coding.display [ fhir:value "frameshift" ]       ]     ]
  ], [
     fhir:index 7;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:51958-7;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "51958-7" ];
         fhir:Coding.display [ fhir:value "Transcript reference sequence [ID]" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/refseq" ];
         fhir:Coding.code [ fhir:value "NM_003482.3" ];
         fhir:Coding.display [ fhir:value "NM_003482.3" ]       ]     ]
  ], [
     fhir:index 8;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:69547-8;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "69547-8" ];
         fhir:Coding.display [ fhir:value "Genomic ref allele [ID]" ]       ]     ];
     fhir:Observation.component.valueString [ fhir:value "CTG" ]
  ], [
     fhir:index 9;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:81258-6;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "81258-6" ];
         fhir:Coding.display [ fhir:value "Sample VAF" ]       ]     ];
     fhir:Observation.component.valueQuantity [
       fhir:Quantity.value [ fhir:value "0.188"^^xsd:decimal ];
       fhir:Quantity.unit [ fhir:value "relative frequency of a particular allele in the specimen" ];
       fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ];
       fhir:Quantity.code [ fhir:value "1" ]     ]
  ], [
     fhir:index 10;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:82121-5;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "82121-5" ];
         fhir:Coding.display [ fhir:value "Allelic read depth" ]       ]     ];
     fhir:Observation.component.valueQuantity [
       fhir:Quantity.value [ fhir:value "117.0"^^xsd:decimal ];
       fhir:Quantity.unit [ fhir:value "reads per base pair" ];
       fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ];
       fhir:Quantity.code [ fhir:value "{reads}/{base}" ]     ]
  ].

<urn:uuid:58828523-8893-45fc-973b-16290366c5e5> a fhir:Observation;
  fhir:Resource.meta [
     fhir:Meta.profile [
       fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant";
       fhir:index 0;
       fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant>     ]
  ];
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><p></p><p><b>category</b>: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"#urnuuidf7a438e6-f484-453d-97e8-aa4d51008648\">See above (Patient/null)</a></p><p><b>performer</b>: <a href=\"#urnuuidfc16d84c-8584-4e1d-baae-64e2f95bfe17\">See above (Organization/null)</a></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></p><p><b>specimen</b>: <span></span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48002-0}\">Genomic source class</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA6684-0}\">Somatic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes: {http://www.genenames.org/geneId HGNC:8975}\">PIK3CA</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 62374-4}\">Human reference sequence assembly version</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA14029-5}\">GRCh37</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title=\"Codes: {http://varnomen.hgvs.org c.333G&gt;T}\">c.333G&gt;T</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes: {http://www.sequenceontology.org SO:1000002}\">substitution</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48005-3}\">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title=\"Codes: {http://varnomen.hgvs.org p.K111N}\">p.K111N</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes molecular-consequence}\">Molecular Consequence</span></p><p><b>value</b>: <span title=\"Codes: {http://www.sequenceontology.org SO:0001583}\">missense_variant</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes: {http://www.ncbi.nlm.nih.gov/refseq NM_006218.3}\">NM_006218.3</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 69547-8}\">Genomic ref allele [ID]</span></p><p><b>value</b>: G</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 81258-6}\">Sample VAF</span></p><p><b>value</b>: 0.1471 relative frequency of a particular allele in the specimen</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 82121-5}\">Allelic read depth</span></p><p><b>value</b>: 68.0 reads per base pair</p></blockquote></div>"
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         fhir:Coding.display [ fhir:value "Transcript reference sequence [ID]" ]       ]     ];
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         fhir:Coding.display [ fhir:value "Genomic ref allele [ID]" ]       ]     ];
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     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><p></p><p><b>category</b>: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"#urnuuidf7a438e6-f484-453d-97e8-aa4d51008648\">See above (Patient/null)</a></p><p><b>performer</b>: <a href=\"#urnuuidfc16d84c-8584-4e1d-baae-64e2f95bfe17\">See above (Organization/null)</a></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></p><p><b>specimen</b>: <span></span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48002-0}\">Genomic source class</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA6684-0}\">Somatic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes: {http://www.genenames.org/geneId HGNC:6126}\">IRS2</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 62374-4}\">Human reference sequence assembly version</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA14029-5}\">GRCh37</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title=\"Codes: {http://varnomen.hgvs.org c.3960C&gt;T}\">c.3960C&gt;T</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes: {http://www.sequenceontology.org SO:1000002}\">substitution</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48005-3}\">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title=\"Codes: {http://varnomen.hgvs.org p.=}\">p.=</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes molecular-consequence}\">Molecular Consequence</span></p><p><b>value</b>: <span title=\"Codes: {http://www.sequenceontology.org SO:0001819}\">synonymous_variant</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes: {http://www.ncbi.nlm.nih.gov/refseq NM_003749.2}\">NM_003749.2</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 69547-8}\">Genomic ref allele [ID]</span></p><p><b>value</b>: G</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 81258-6}\">Sample VAF</span></p><p><b>value</b>: 0.1343 relative frequency of a particular allele in the specimen</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 82121-5}\">Allelic read depth</span></p><p><b>value</b>: 134.0 reads per base pair</p></blockquote></div>"
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         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ];
         fhir:Coding.code [ fhir:value "SO:1000002" ];
         fhir:Coding.display [ fhir:value "substitution" ]       ]     ]
  ], [
     fhir:index 5;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48005-3;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48005-3" ];
         fhir:Coding.display [ fhir:value "Amino acid change (pHGVS)" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ];
         fhir:Coding.code [ fhir:value "p.=" ];
         fhir:Coding.display [ fhir:value "p.=" ]       ]     ]
  ], [
     fhir:index 6;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes" ];
         fhir:Coding.code [ fhir:value "molecular-consequence" ];
         fhir:Coding.display [ fhir:value "Molecular Consequence" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ];
         fhir:Coding.code [ fhir:value "SO:0001819" ];
         fhir:Coding.display [ fhir:value "synonymous_variant" ]       ]     ]
  ], [
     fhir:index 7;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:51958-7;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "51958-7" ];
         fhir:Coding.display [ fhir:value "Transcript reference sequence [ID]" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/refseq" ];
         fhir:Coding.code [ fhir:value "NM_003749.2" ];
         fhir:Coding.display [ fhir:value "NM_003749.2" ]       ]     ]
  ], [
     fhir:index 8;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:69547-8;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "69547-8" ];
         fhir:Coding.display [ fhir:value "Genomic ref allele [ID]" ]       ]     ];
     fhir:Observation.component.valueString [ fhir:value "G" ]
  ], [
     fhir:index 9;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:81258-6;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "81258-6" ];
         fhir:Coding.display [ fhir:value "Sample VAF" ]       ]     ];
     fhir:Observation.component.valueQuantity [
       fhir:Quantity.value [ fhir:value "0.1343"^^xsd:decimal ];
       fhir:Quantity.unit [ fhir:value "relative frequency of a particular allele in the specimen" ];
       fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ];
       fhir:Quantity.code [ fhir:value "1" ]     ]
  ], [
     fhir:index 10;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:82121-5;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "82121-5" ];
         fhir:Coding.display [ fhir:value "Allelic read depth" ]       ]     ];
     fhir:Observation.component.valueQuantity [
       fhir:Quantity.value [ fhir:value "134.0"^^xsd:decimal ];
       fhir:Quantity.unit [ fhir:value "reads per base pair" ];
       fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ];
       fhir:Quantity.code [ fhir:value "{reads}/{base}" ]     ]
  ].

<urn:uuid:41bebbe5-e06f-4867-aa22-7c06db69dbd1> a fhir:Observation;
  fhir:Resource.meta [
     fhir:Meta.profile [
       fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant";
       fhir:index 0;
       fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant>     ]
  ];
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><p></p><p><b>category</b>: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"#urnuuidf7a438e6-f484-453d-97e8-aa4d51008648\">See above (Patient/null)</a></p><p><b>performer</b>: <a href=\"#urnuuidfc16d84c-8584-4e1d-baae-64e2f95bfe17\">See above (Organization/null)</a></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></p><p><b>specimen</b>: <span></span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48002-0}\">Genomic source class</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA6684-0}\">Somatic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes: {http://www.genenames.org/geneId HGNC:1787}\">CDKN2A</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 62374-4}\">Human reference sequence assembly version</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA14029-5}\">GRCh37</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title=\"Codes: {http://varnomen.hgvs.org c.9_32del}\">c.9_32del</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes: {http://www.sequenceontology.org SO:0000159}\">deletion</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48005-3}\">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title=\"Codes: {http://varnomen.hgvs.org p.A4_P11del}\">p.A4_P11del</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes molecular-consequence}\">Molecular Consequence</span></p><p><b>value</b>: <span title=\"Codes: {http://www.sequenceontology.org SO:0001650}\">inframe_variant</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes: {http://www.ncbi.nlm.nih.gov/refseq NM_000077.4}\">NM_000077.4</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 69547-8}\">Genomic ref allele [ID]</span></p><p><b>value</b>: AGGCTCCATGCTGCTCCCCGCCGCC</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 81258-6}\">Sample VAF</span></p><p><b>value</b>: 0.0536 relative frequency of a particular allele in the specimen</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 82121-5}\">Allelic read depth</span></p><p><b>value</b>: 112.0 reads per base pair</p></blockquote></div>"
  ];
  fhir:Observation.status [ fhir:value "final"];
  fhir:Observation.category [
     fhir:index 0;
     fhir:CodeableConcept.coding [
       fhir:index 0;
       fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/observation-category" ];
       fhir:Coding.code [ fhir:value "laboratory" ]     ]
  ];
  fhir:Observation.code [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:69548-6;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "69548-6" ];
       fhir:Coding.display [ fhir:value "Genetic variant assessment" ]     ]
  ];
  fhir:Observation.subject [
     fhir:Reference.reference [ fhir:value "urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648" ]
  ];
  fhir:Observation.performer [
     fhir:index 0;
     fhir:Reference.reference [ fhir:value "urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17" ]
  ];
  fhir:Observation.valueCodeableConcept [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:LA9633-4;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "LA9633-4" ];
       fhir:Coding.display [ fhir:value "Present" ]     ]
  ];
  fhir:Observation.method [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:LA26398-0;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "LA26398-0" ];
       fhir:Coding.display [ fhir:value "Sequencing" ]     ]
  ];
  fhir:Observation.specimen [
     fhir:Reference.identifier [
       fhir:Identifier.system [ fhir:value "http://molit.eu/fhir/genomics/NamingSystem/cegat/tissueID" ];
       fhir:Identifier.value [ fhir:value "UNKNOWN" ]     ]
  ];
  fhir:Observation.component [
     fhir:index 0;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48002-0;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48002-0" ];
         fhir:Coding.display [ fhir:value "Genomic source class" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:LA6684-0;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "LA6684-0" ];
         fhir:Coding.display [ fhir:value "Somatic" ]       ]     ]
  ], [
     fhir:index 1;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48018-6;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48018-6" ];
         fhir:Coding.display [ fhir:value "Gene studied [ID]" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.genenames.org/geneId" ];
         fhir:Coding.code [ fhir:value "HGNC:1787" ];
         fhir:Coding.display [ fhir:value "CDKN2A" ]       ]     ]
  ], [
     fhir:index 2;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:62374-4;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "62374-4" ];
         fhir:Coding.display [ fhir:value "Human reference sequence assembly version" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:LA14029-5;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "LA14029-5" ];
         fhir:Coding.display [ fhir:value "GRCh37" ]       ]     ]
  ], [
     fhir:index 3;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48004-6;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48004-6" ];
         fhir:Coding.display [ fhir:value "DNA change (c.HGVS)" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ];
         fhir:Coding.code [ fhir:value "c.9_32del" ];
         fhir:Coding.display [ fhir:value "c.9_32del" ]       ]     ]
  ], [
     fhir:index 4;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48019-4;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48019-4" ];
         fhir:Coding.display [ fhir:value "DNA change type" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ];
         fhir:Coding.code [ fhir:value "SO:0000159" ];
         fhir:Coding.display [ fhir:value "deletion" ]       ]     ]
  ], [
     fhir:index 5;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48005-3;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48005-3" ];
         fhir:Coding.display [ fhir:value "Amino acid change (pHGVS)" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ];
         fhir:Coding.code [ fhir:value "p.A4_P11del" ];
         fhir:Coding.display [ fhir:value "p.A4_P11del" ]       ]     ]
  ], [
     fhir:index 6;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes" ];
         fhir:Coding.code [ fhir:value "molecular-consequence" ];
         fhir:Coding.display [ fhir:value "Molecular Consequence" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ];
         fhir:Coding.code [ fhir:value "SO:0001650" ];
         fhir:Coding.display [ fhir:value "inframe_variant" ]       ]     ]
  ], [
     fhir:index 7;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:51958-7;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "51958-7" ];
         fhir:Coding.display [ fhir:value "Transcript reference sequence [ID]" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/refseq" ];
         fhir:Coding.code [ fhir:value "NM_000077.4" ];
         fhir:Coding.display [ fhir:value "NM_000077.4" ]       ]     ]
  ], [
     fhir:index 8;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:69547-8;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "69547-8" ];
         fhir:Coding.display [ fhir:value "Genomic ref allele [ID]" ]       ]     ];
     fhir:Observation.component.valueString [ fhir:value "AGGCTCCATGCTGCTCCCCGCCGCC" ]
  ], [
     fhir:index 9;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:81258-6;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "81258-6" ];
         fhir:Coding.display [ fhir:value "Sample VAF" ]       ]     ];
     fhir:Observation.component.valueQuantity [
       fhir:Quantity.value [ fhir:value "0.0536"^^xsd:decimal ];
       fhir:Quantity.unit [ fhir:value "relative frequency of a particular allele in the specimen" ];
       fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ];
       fhir:Quantity.code [ fhir:value "1" ]     ]
  ], [
     fhir:index 10;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:82121-5;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "82121-5" ];
         fhir:Coding.display [ fhir:value "Allelic read depth" ]       ]     ];
     fhir:Observation.component.valueQuantity [
       fhir:Quantity.value [ fhir:value "112.0"^^xsd:decimal ];
       fhir:Quantity.unit [ fhir:value "reads per base pair" ];
       fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ];
       fhir:Quantity.code [ fhir:value "{reads}/{base}" ]     ]
  ].

<urn:uuid:1642f190-e2c6-4999-8040-b9b2a70618bf> a fhir:Observation;
  fhir:Resource.meta [
     fhir:Meta.profile [
       fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant";
       fhir:index 0;
       fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant>     ]
  ];
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><p></p><p><b>category</b>: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"#urnuuidf7a438e6-f484-453d-97e8-aa4d51008648\">See above (Patient/null)</a></p><p><b>performer</b>: <a href=\"#urnuuidfc16d84c-8584-4e1d-baae-64e2f95bfe17\">See above (Organization/null)</a></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></p><p><b>specimen</b>: <span></span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48002-0}\">Genomic source class</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA6684-0}\">Somatic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes: {http://www.genenames.org/geneId HGNC:9949}\">RECQL4</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 62374-4}\">Human reference sequence assembly version</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA14029-5}\">GRCh37</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title=\"Codes: {http://varnomen.hgvs.org c.2086C&gt;T}\">c.2086C&gt;T</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes: {http://www.sequenceontology.org SO:1000002}\">substitution</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48005-3}\">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title=\"Codes: {http://varnomen.hgvs.org p.R696C}\">p.R696C</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes molecular-consequence}\">Molecular Consequence</span></p><p><b>value</b>: <span title=\"Codes: {http://www.sequenceontology.org SO:0001583}\">missense_variant</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes: {http://www.ncbi.nlm.nih.gov/refseq NM_004260.3}\">NM_004260.3</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 69547-8}\">Genomic ref allele [ID]</span></p><p><b>value</b>: G</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 81258-6}\">Sample VAF</span></p><p><b>value</b>: 0.2568 relative frequency of a particular allele in the specimen</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 82121-5}\">Allelic read depth</span></p><p><b>value</b>: 148.0 reads per base pair</p></blockquote></div>"
  ];
  fhir:Observation.status [ fhir:value "final"];
  fhir:Observation.category [
     fhir:index 0;
     fhir:CodeableConcept.coding [
       fhir:index 0;
       fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/observation-category" ];
       fhir:Coding.code [ fhir:value "laboratory" ]     ]
  ];
  fhir:Observation.code [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:69548-6;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "69548-6" ];
       fhir:Coding.display [ fhir:value "Genetic variant assessment" ]     ]
  ];
  fhir:Observation.subject [
     fhir:Reference.reference [ fhir:value "urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648" ]
  ];
  fhir:Observation.performer [
     fhir:index 0;
     fhir:Reference.reference [ fhir:value "urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17" ]
  ];
  fhir:Observation.valueCodeableConcept [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:LA9633-4;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "LA9633-4" ];
       fhir:Coding.display [ fhir:value "Present" ]     ]
  ];
  fhir:Observation.method [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:LA26398-0;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "LA26398-0" ];
       fhir:Coding.display [ fhir:value "Sequencing" ]     ]
  ];
  fhir:Observation.specimen [
     fhir:Reference.identifier [
       fhir:Identifier.system [ fhir:value "http://molit.eu/fhir/genomics/NamingSystem/cegat/tissueID" ];
       fhir:Identifier.value [ fhir:value "UNKNOWN" ]     ]
  ];
  fhir:Observation.component [
     fhir:index 0;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48002-0;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48002-0" ];
         fhir:Coding.display [ fhir:value "Genomic source class" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:LA6684-0;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "LA6684-0" ];
         fhir:Coding.display [ fhir:value "Somatic" ]       ]     ]
  ], [
     fhir:index 1;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48018-6;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48018-6" ];
         fhir:Coding.display [ fhir:value "Gene studied [ID]" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.genenames.org/geneId" ];
         fhir:Coding.code [ fhir:value "HGNC:9949" ];
         fhir:Coding.display [ fhir:value "RECQL4" ]       ]     ]
  ], [
     fhir:index 2;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:62374-4;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "62374-4" ];
         fhir:Coding.display [ fhir:value "Human reference sequence assembly version" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:LA14029-5;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "LA14029-5" ];
         fhir:Coding.display [ fhir:value "GRCh37" ]       ]     ]
  ], [
     fhir:index 3;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48004-6;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48004-6" ];
         fhir:Coding.display [ fhir:value "DNA change (c.HGVS)" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ];
         fhir:Coding.code [ fhir:value "c.2086C>T" ];
         fhir:Coding.display [ fhir:value "c.2086C>T" ]       ]     ]
  ], [
     fhir:index 4;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48019-4;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48019-4" ];
         fhir:Coding.display [ fhir:value "DNA change type" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ];
         fhir:Coding.code [ fhir:value "SO:1000002" ];
         fhir:Coding.display [ fhir:value "substitution" ]       ]     ]
  ], [
     fhir:index 5;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48005-3;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48005-3" ];
         fhir:Coding.display [ fhir:value "Amino acid change (pHGVS)" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ];
         fhir:Coding.code [ fhir:value "p.R696C" ];
         fhir:Coding.display [ fhir:value "p.R696C" ]       ]     ]
  ], [
     fhir:index 6;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes" ];
         fhir:Coding.code [ fhir:value "molecular-consequence" ];
         fhir:Coding.display [ fhir:value "Molecular Consequence" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ];
         fhir:Coding.code [ fhir:value "SO:0001583" ];
         fhir:Coding.display [ fhir:value "missense_variant" ]       ]     ]
  ], [
     fhir:index 7;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:51958-7;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "51958-7" ];
         fhir:Coding.display [ fhir:value "Transcript reference sequence [ID]" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/refseq" ];
         fhir:Coding.code [ fhir:value "NM_004260.3" ];
         fhir:Coding.display [ fhir:value "NM_004260.3" ]       ]     ]
  ], [
     fhir:index 8;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:69547-8;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "69547-8" ];
         fhir:Coding.display [ fhir:value "Genomic ref allele [ID]" ]       ]     ];
     fhir:Observation.component.valueString [ fhir:value "G" ]
  ], [
     fhir:index 9;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:81258-6;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "81258-6" ];
         fhir:Coding.display [ fhir:value "Sample VAF" ]       ]     ];
     fhir:Observation.component.valueQuantity [
       fhir:Quantity.value [ fhir:value "0.2568"^^xsd:decimal ];
       fhir:Quantity.unit [ fhir:value "relative frequency of a particular allele in the specimen" ];
       fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ];
       fhir:Quantity.code [ fhir:value "1" ]     ]
  ], [
     fhir:index 10;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:82121-5;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "82121-5" ];
         fhir:Coding.display [ fhir:value "Allelic read depth" ]       ]     ];
     fhir:Observation.component.valueQuantity [
       fhir:Quantity.value [ fhir:value "148.0"^^xsd:decimal ];
       fhir:Quantity.unit [ fhir:value "reads per base pair" ];
       fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ];
       fhir:Quantity.code [ fhir:value "{reads}/{base}" ]     ]
  ].

<urn:uuid:c3587931-242f-4129-93f9-be24500c8f29> a fhir:Observation;
  fhir:Resource.meta [
     fhir:Meta.profile [
       fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant";
       fhir:index 0;
       fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant>     ]
  ];
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><p></p><p><b>category</b>: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"#urnuuidf7a438e6-f484-453d-97e8-aa4d51008648\">See above (Patient/null)</a></p><p><b>performer</b>: <a href=\"#urnuuidfc16d84c-8584-4e1d-baae-64e2f95bfe17\">See above (Organization/null)</a></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></p><p><b>specimen</b>: <span></span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48002-0}\">Genomic source class</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA6684-0}\">Somatic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes: {http://www.genenames.org/geneId HGNC:10483}\">RYR1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 62374-4}\">Human reference sequence assembly version</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA14029-5}\">GRCh37</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title=\"Codes: {http://varnomen.hgvs.org c.4964G&gt;A}\">c.4964G&gt;A</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes: {http://www.sequenceontology.org SO:1000002}\">substitution</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48005-3}\">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title=\"Codes: {http://varnomen.hgvs.org p.R1655H}\">p.R1655H</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes molecular-consequence}\">Molecular Consequence</span></p><p><b>value</b>: <span title=\"Codes: {http://www.sequenceontology.org SO:0001583}\">missense_variant</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes: {http://www.ncbi.nlm.nih.gov/refseq NM_000540.2}\">NM_000540.2</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 69547-8}\">Genomic ref allele [ID]</span></p><p><b>value</b>: G</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 81258-6}\">Sample VAF</span></p><p><b>value</b>: 0.2151 relative frequency of a particular allele in the specimen</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 82121-5}\">Allelic read depth</span></p><p><b>value</b>: 93.0 reads per base pair</p></blockquote></div>"
  ];
  fhir:Observation.status [ fhir:value "final"];
  fhir:Observation.category [
     fhir:index 0;
     fhir:CodeableConcept.coding [
       fhir:index 0;
       fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/observation-category" ];
       fhir:Coding.code [ fhir:value "laboratory" ]     ]
  ];
  fhir:Observation.code [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:69548-6;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "69548-6" ];
       fhir:Coding.display [ fhir:value "Genetic variant assessment" ]     ]
  ];
  fhir:Observation.subject [
     fhir:Reference.reference [ fhir:value "urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648" ]
  ];
  fhir:Observation.performer [
     fhir:index 0;
     fhir:Reference.reference [ fhir:value "urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17" ]
  ];
  fhir:Observation.valueCodeableConcept [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:LA9633-4;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "LA9633-4" ];
       fhir:Coding.display [ fhir:value "Present" ]     ]
  ];
  fhir:Observation.method [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:LA26398-0;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "LA26398-0" ];
       fhir:Coding.display [ fhir:value "Sequencing" ]     ]
  ];
  fhir:Observation.specimen [
     fhir:Reference.identifier [
       fhir:Identifier.system [ fhir:value "http://molit.eu/fhir/genomics/NamingSystem/cegat/tissueID" ];
       fhir:Identifier.value [ fhir:value "UNKNOWN" ]     ]
  ];
  fhir:Observation.component [
     fhir:index 0;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48002-0;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48002-0" ];
         fhir:Coding.display [ fhir:value "Genomic source class" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:LA6684-0;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "LA6684-0" ];
         fhir:Coding.display [ fhir:value "Somatic" ]       ]     ]
  ], [
     fhir:index 1;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48018-6;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48018-6" ];
         fhir:Coding.display [ fhir:value "Gene studied [ID]" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.genenames.org/geneId" ];
         fhir:Coding.code [ fhir:value "HGNC:10483" ];
         fhir:Coding.display [ fhir:value "RYR1" ]       ]     ]
  ], [
     fhir:index 2;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:62374-4;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "62374-4" ];
         fhir:Coding.display [ fhir:value "Human reference sequence assembly version" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:LA14029-5;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "LA14029-5" ];
         fhir:Coding.display [ fhir:value "GRCh37" ]       ]     ]
  ], [
     fhir:index 3;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48004-6;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48004-6" ];
         fhir:Coding.display [ fhir:value "DNA change (c.HGVS)" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ];
         fhir:Coding.code [ fhir:value "c.4964G>A" ];
         fhir:Coding.display [ fhir:value "c.4964G>A" ]       ]     ]
  ], [
     fhir:index 4;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48019-4;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48019-4" ];
         fhir:Coding.display [ fhir:value "DNA change type" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ];
         fhir:Coding.code [ fhir:value "SO:1000002" ];
         fhir:Coding.display [ fhir:value "substitution" ]       ]     ]
  ], [
     fhir:index 5;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48005-3;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48005-3" ];
         fhir:Coding.display [ fhir:value "Amino acid change (pHGVS)" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ];
         fhir:Coding.code [ fhir:value "p.R1655H" ];
         fhir:Coding.display [ fhir:value "p.R1655H" ]       ]     ]
  ], [
     fhir:index 6;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes" ];
         fhir:Coding.code [ fhir:value "molecular-consequence" ];
         fhir:Coding.display [ fhir:value "Molecular Consequence" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ];
         fhir:Coding.code [ fhir:value "SO:0001583" ];
         fhir:Coding.display [ fhir:value "missense_variant" ]       ]     ]
  ], [
     fhir:index 7;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:51958-7;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "51958-7" ];
         fhir:Coding.display [ fhir:value "Transcript reference sequence [ID]" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/refseq" ];
         fhir:Coding.code [ fhir:value "NM_000540.2" ];
         fhir:Coding.display [ fhir:value "NM_000540.2" ]       ]     ]
  ], [
     fhir:index 8;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:69547-8;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "69547-8" ];
         fhir:Coding.display [ fhir:value "Genomic ref allele [ID]" ]       ]     ];
     fhir:Observation.component.valueString [ fhir:value "G" ]
  ], [
     fhir:index 9;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:81258-6;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "81258-6" ];
         fhir:Coding.display [ fhir:value "Sample VAF" ]       ]     ];
     fhir:Observation.component.valueQuantity [
       fhir:Quantity.value [ fhir:value "0.2151"^^xsd:decimal ];
       fhir:Quantity.unit [ fhir:value "relative frequency of a particular allele in the specimen" ];
       fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ];
       fhir:Quantity.code [ fhir:value "1" ]     ]
  ], [
     fhir:index 10;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:82121-5;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "82121-5" ];
         fhir:Coding.display [ fhir:value "Allelic read depth" ]       ]     ];
     fhir:Observation.component.valueQuantity [
       fhir:Quantity.value [ fhir:value "93.0"^^xsd:decimal ];
       fhir:Quantity.unit [ fhir:value "reads per base pair" ];
       fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ];
       fhir:Quantity.code [ fhir:value "{reads}/{base}" ]     ]
  ].

<urn:uuid:41695fc0-1fd5-4cc8-95e6-82b2848a5cb6> a fhir:Observation;
  fhir:Resource.meta [
     fhir:Meta.profile [
       fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant";
       fhir:index 0;
       fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant>     ]
  ];
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><p></p><p><b>category</b>: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"#urnuuidf7a438e6-f484-453d-97e8-aa4d51008648\">See above (Patient/null)</a></p><p><b>performer</b>: <a href=\"#urnuuidfc16d84c-8584-4e1d-baae-64e2f95bfe17\">See above (Organization/null)</a></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></p><p><b>specimen</b>: <span></span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48002-0}\">Genomic source class</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA6684-0}\">Somatic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes: {http://www.genenames.org/geneId HGNC:10519}\">SACS</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 62374-4}\">Human reference sequence assembly version</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA14029-5}\">GRCh37</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title=\"Codes: {http://varnomen.hgvs.org c.12118G&gt;A}\">c.12118G&gt;A</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes: {http://www.sequenceontology.org SO:1000002}\">substitution</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48005-3}\">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title=\"Codes: {http://varnomen.hgvs.org p.A4040T}\">p.A4040T</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes molecular-consequence}\">Molecular Consequence</span></p><p><b>value</b>: <span title=\"Codes: {http://www.sequenceontology.org SO:0001583}\">missense_variant</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes: {http://www.ncbi.nlm.nih.gov/refseq NM_014363.5}\">NM_014363.5</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 69547-8}\">Genomic ref allele [ID]</span></p><p><b>value</b>: C</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 81258-6}\">Sample VAF</span></p><p><b>value</b>: 0.3333 relative frequency of a particular allele in the specimen</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 82121-5}\">Allelic read depth</span></p><p><b>value</b>: 60.0 reads per base pair</p></blockquote></div>"
  ];
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         fhir:Coding.code [ fhir:value "62374-4" ];
         fhir:Coding.display [ fhir:value "Human reference sequence assembly version" ]       ]     ];
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         fhir:Coding.code [ fhir:value "LA14029-5" ];
         fhir:Coding.display [ fhir:value "GRCh37" ]       ]     ]
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         fhir:Coding.code [ fhir:value "48004-6" ];
         fhir:Coding.display [ fhir:value "DNA change (c.HGVS)" ]       ]     ];
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         fhir:Coding.code [ fhir:value "c.12118G>A" ];
         fhir:Coding.display [ fhir:value "c.12118G>A" ]       ]     ]
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         fhir:Coding.code [ fhir:value "48019-4" ];
         fhir:Coding.display [ fhir:value "DNA change type" ]       ]     ];
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         fhir:Coding.display [ fhir:value "substitution" ]       ]     ]
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         fhir:Coding.code [ fhir:value "48005-3" ];
         fhir:Coding.display [ fhir:value "Amino acid change (pHGVS)" ]       ]     ];
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         fhir:Coding.code [ fhir:value "p.A4040T" ];
         fhir:Coding.display [ fhir:value "p.A4040T" ]       ]     ]
  ], [
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         fhir:Coding.display [ fhir:value "Molecular Consequence" ]       ]     ];
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         fhir:Coding.display [ fhir:value "missense_variant" ]       ]     ]
  ], [
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         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "51958-7" ];
         fhir:Coding.display [ fhir:value "Transcript reference sequence [ID]" ]       ]     ];
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         fhir:Coding.display [ fhir:value "NM_014363.5" ]       ]     ]
  ], [
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         fhir:Coding.code [ fhir:value "69547-8" ];
         fhir:Coding.display [ fhir:value "Genomic ref allele [ID]" ]       ]     ];
     fhir:Observation.component.valueString [ fhir:value "C" ]
  ], [
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         fhir:Coding.code [ fhir:value "81258-6" ];
         fhir:Coding.display [ fhir:value "Sample VAF" ]       ]     ];
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         fhir:Coding.code [ fhir:value "82121-5" ];
         fhir:Coding.display [ fhir:value "Allelic read depth" ]       ]     ];
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       fhir:Quantity.code [ fhir:value "{reads}/{base}" ]     ]
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<urn:uuid:58eb14f6-4059-4168-86a9-155ae61d30e2> a fhir:Observation;
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       fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant>     ]
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     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><p></p><p><b>category</b>: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"#urnuuidf7a438e6-f484-453d-97e8-aa4d51008648\">See above (Patient/null)</a></p><p><b>performer</b>: <a href=\"#urnuuidfc16d84c-8584-4e1d-baae-64e2f95bfe17\">See above (Organization/null)</a></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></p><p><b>specimen</b>: <span></span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48002-0}\">Genomic source class</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA6684-0}\">Somatic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes: {http://www.genenames.org/geneId HGNC:11086}\">SLIT2</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 62374-4}\">Human reference sequence assembly version</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA14029-5}\">GRCh37</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title=\"Codes: {http://varnomen.hgvs.org c.1290C&gt;A}\">c.1290C&gt;A</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes: {http://www.sequenceontology.org SO:1000002}\">substitution</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48005-3}\">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title=\"Codes: {http://varnomen.hgvs.org p.N430K}\">p.N430K</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes molecular-consequence}\">Molecular Consequence</span></p><p><b>value</b>: <span title=\"Codes: {http://www.sequenceontology.org SO:0001583}\">missense_variant</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes: {http://www.ncbi.nlm.nih.gov/refseq NM_004787.3}\">NM_004787.3</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 69547-8}\">Genomic ref allele [ID]</span></p><p><b>value</b>: C</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 81258-6}\">Sample VAF</span></p><p><b>value</b>: 0.2642 relative frequency of a particular allele in the specimen</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 82121-5}\">Allelic read depth</span></p><p><b>value</b>: 53.0 reads per base pair</p></blockquote></div>"
  ];
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       fhir:Coding.display [ fhir:value "Sequencing" ]     ]
  ];
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         fhir:Coding.display [ fhir:value "Gene studied [ID]" ]       ]     ];
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         fhir:Coding.display [ fhir:value "Human reference sequence assembly version" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
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         fhir:Coding.code [ fhir:value "LA14029-5" ];
         fhir:Coding.display [ fhir:value "GRCh37" ]       ]     ]
  ], [
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         fhir:Coding.display [ fhir:value "DNA change (c.HGVS)" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
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         fhir:Coding.display [ fhir:value "DNA change type" ]       ]     ];
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         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ];
         fhir:Coding.code [ fhir:value "SO:1000002" ];
         fhir:Coding.display [ fhir:value "substitution" ]       ]     ]
  ], [
     fhir:index 5;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48005-3;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48005-3" ];
         fhir:Coding.display [ fhir:value "Amino acid change (pHGVS)" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ];
         fhir:Coding.code [ fhir:value "p.N430K" ];
         fhir:Coding.display [ fhir:value "p.N430K" ]       ]     ]
  ], [
     fhir:index 6;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes" ];
         fhir:Coding.code [ fhir:value "molecular-consequence" ];
         fhir:Coding.display [ fhir:value "Molecular Consequence" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ];
         fhir:Coding.code [ fhir:value "SO:0001583" ];
         fhir:Coding.display [ fhir:value "missense_variant" ]       ]     ]
  ], [
     fhir:index 7;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:51958-7;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "51958-7" ];
         fhir:Coding.display [ fhir:value "Transcript reference sequence [ID]" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/refseq" ];
         fhir:Coding.code [ fhir:value "NM_004787.3" ];
         fhir:Coding.display [ fhir:value "NM_004787.3" ]       ]     ]
  ], [
     fhir:index 8;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:69547-8;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "69547-8" ];
         fhir:Coding.display [ fhir:value "Genomic ref allele [ID]" ]       ]     ];
     fhir:Observation.component.valueString [ fhir:value "C" ]
  ], [
     fhir:index 9;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:81258-6;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "81258-6" ];
         fhir:Coding.display [ fhir:value "Sample VAF" ]       ]     ];
     fhir:Observation.component.valueQuantity [
       fhir:Quantity.value [ fhir:value "0.2642"^^xsd:decimal ];
       fhir:Quantity.unit [ fhir:value "relative frequency of a particular allele in the specimen" ];
       fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ];
       fhir:Quantity.code [ fhir:value "1" ]     ]
  ], [
     fhir:index 10;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:82121-5;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "82121-5" ];
         fhir:Coding.display [ fhir:value "Allelic read depth" ]       ]     ];
     fhir:Observation.component.valueQuantity [
       fhir:Quantity.value [ fhir:value "53.0"^^xsd:decimal ];
       fhir:Quantity.unit [ fhir:value "reads per base pair" ];
       fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ];
       fhir:Quantity.code [ fhir:value "{reads}/{base}" ]     ]
  ].

<urn:uuid:1a71e80f-b044-4a91-80e1-eadbe5a53dca> a fhir:Observation;
  fhir:Resource.meta [
     fhir:Meta.profile [
       fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant";
       fhir:index 0;
       fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant>     ]
  ];
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><p></p><p><b>category</b>: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"#urnuuidf7a438e6-f484-453d-97e8-aa4d51008648\">See above (Patient/null)</a></p><p><b>performer</b>: <a href=\"#urnuuidfc16d84c-8584-4e1d-baae-64e2f95bfe17\">See above (Organization/null)</a></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></p><p><b>specimen</b>: <span></span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48002-0}\">Genomic source class</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA6684-0}\">Somatic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes: {http://www.genenames.org/geneId HGNC:11100}\">SMARCA4</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 62374-4}\">Human reference sequence assembly version</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA14029-5}\">GRCh37</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title=\"Codes: {http://varnomen.hgvs.org c.2372C&gt;T}\">c.2372C&gt;T</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes: {http://www.sequenceontology.org SO:1000002}\">substitution</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48005-3}\">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title=\"Codes: {http://varnomen.hgvs.org p.A791V}\">p.A791V</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes molecular-consequence}\">Molecular Consequence</span></p><p><b>value</b>: <span title=\"Codes: {http://www.sequenceontology.org SO:0001583}\">missense_variant</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes: {http://www.ncbi.nlm.nih.gov/refseq NM_001128849.1}\">NM_001128849.1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 69547-8}\">Genomic ref allele [ID]</span></p><p><b>value</b>: C</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 81258-6}\">Sample VAF</span></p><p><b>value</b>: 0.1938 relative frequency of a particular allele in the specimen</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 82121-5}\">Allelic read depth</span></p><p><b>value</b>: 160.0 reads per base pair</p></blockquote></div>"
  ];
  fhir:Observation.status [ fhir:value "final"];
  fhir:Observation.category [
     fhir:index 0;
     fhir:CodeableConcept.coding [
       fhir:index 0;
       fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/observation-category" ];
       fhir:Coding.code [ fhir:value "laboratory" ]     ]
  ];
  fhir:Observation.code [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:69548-6;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "69548-6" ];
       fhir:Coding.display [ fhir:value "Genetic variant assessment" ]     ]
  ];
  fhir:Observation.subject [
     fhir:Reference.reference [ fhir:value "urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648" ]
  ];
  fhir:Observation.performer [
     fhir:index 0;
     fhir:Reference.reference [ fhir:value "urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17" ]
  ];
  fhir:Observation.valueCodeableConcept [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:LA9633-4;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "LA9633-4" ];
       fhir:Coding.display [ fhir:value "Present" ]     ]
  ];
  fhir:Observation.method [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:LA26398-0;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "LA26398-0" ];
       fhir:Coding.display [ fhir:value "Sequencing" ]     ]
  ];
  fhir:Observation.specimen [
     fhir:Reference.identifier [
       fhir:Identifier.system [ fhir:value "http://molit.eu/fhir/genomics/NamingSystem/cegat/tissueID" ];
       fhir:Identifier.value [ fhir:value "UNKNOWN" ]     ]
  ];
  fhir:Observation.component [
     fhir:index 0;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48002-0;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48002-0" ];
         fhir:Coding.display [ fhir:value "Genomic source class" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:LA6684-0;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "LA6684-0" ];
         fhir:Coding.display [ fhir:value "Somatic" ]       ]     ]
  ], [
     fhir:index 1;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48018-6;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48018-6" ];
         fhir:Coding.display [ fhir:value "Gene studied [ID]" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.genenames.org/geneId" ];
         fhir:Coding.code [ fhir:value "HGNC:11100" ];
         fhir:Coding.display [ fhir:value "SMARCA4" ]       ]     ]
  ], [
     fhir:index 2;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:62374-4;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "62374-4" ];
         fhir:Coding.display [ fhir:value "Human reference sequence assembly version" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:LA14029-5;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "LA14029-5" ];
         fhir:Coding.display [ fhir:value "GRCh37" ]       ]     ]
  ], [
     fhir:index 3;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48004-6;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48004-6" ];
         fhir:Coding.display [ fhir:value "DNA change (c.HGVS)" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ];
         fhir:Coding.code [ fhir:value "c.2372C>T" ];
         fhir:Coding.display [ fhir:value "c.2372C>T" ]       ]     ]
  ], [
     fhir:index 4;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48019-4;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48019-4" ];
         fhir:Coding.display [ fhir:value "DNA change type" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ];
         fhir:Coding.code [ fhir:value "SO:1000002" ];
         fhir:Coding.display [ fhir:value "substitution" ]       ]     ]
  ], [
     fhir:index 5;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48005-3;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48005-3" ];
         fhir:Coding.display [ fhir:value "Amino acid change (pHGVS)" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ];
         fhir:Coding.code [ fhir:value "p.A791V" ];
         fhir:Coding.display [ fhir:value "p.A791V" ]       ]     ]
  ], [
     fhir:index 6;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes" ];
         fhir:Coding.code [ fhir:value "molecular-consequence" ];
         fhir:Coding.display [ fhir:value "Molecular Consequence" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ];
         fhir:Coding.code [ fhir:value "SO:0001583" ];
         fhir:Coding.display [ fhir:value "missense_variant" ]       ]     ]
  ], [
     fhir:index 7;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:51958-7;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "51958-7" ];
         fhir:Coding.display [ fhir:value "Transcript reference sequence [ID]" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/refseq" ];
         fhir:Coding.code [ fhir:value "NM_001128849.1" ];
         fhir:Coding.display [ fhir:value "NM_001128849.1" ]       ]     ]
  ], [
     fhir:index 8;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:69547-8;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "69547-8" ];
         fhir:Coding.display [ fhir:value "Genomic ref allele [ID]" ]       ]     ];
     fhir:Observation.component.valueString [ fhir:value "C" ]
  ], [
     fhir:index 9;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:81258-6;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "81258-6" ];
         fhir:Coding.display [ fhir:value "Sample VAF" ]       ]     ];
     fhir:Observation.component.valueQuantity [
       fhir:Quantity.value [ fhir:value "0.1938"^^xsd:decimal ];
       fhir:Quantity.unit [ fhir:value "relative frequency of a particular allele in the specimen" ];
       fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ];
       fhir:Quantity.code [ fhir:value "1" ]     ]
  ], [
     fhir:index 10;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:82121-5;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "82121-5" ];
         fhir:Coding.display [ fhir:value "Allelic read depth" ]       ]     ];
     fhir:Observation.component.valueQuantity [
       fhir:Quantity.value [ fhir:value "160.0"^^xsd:decimal ];
       fhir:Quantity.unit [ fhir:value "reads per base pair" ];
       fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ];
       fhir:Quantity.code [ fhir:value "{reads}/{base}" ]     ]
  ].

<urn:uuid:6a80003f-822d-489e-8286-1f1dcba56dfa> a fhir:DiagnosticReport;
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><p><b>identifier</b>: id: 42867</p><p><b>status</b>: final</p><p><b>category</b>: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 81247-9}\">Master HL7 genetic variant reporting panel</span></p><p><b>subject</b>: <a href=\"#urnuuidf7a438e6-f484-453d-97e8-aa4d51008648\">See above (Patient/null)</a></p><p><b>issued</b>: Sep 15, 2019 3:35:05 PM</p><p><b>performer</b>: <a href=\"#urnuuidfc16d84c-8584-4e1d-baae-64e2f95bfe17\">See above (Organization/null)</a></p><p><b>specimen</b>: <a href=\"#urnuuida2041c83-b73d-4fc8-9466-4ba4a92da516\">See above (Specimen/null)</a></p><p><b>result</b>: </p><ul><li><a href=\"#urnuuiddac358c3-403a-4dbb-b478-4259aed882ae\">See above (Observation/null)</a></li><li><a href=\"#urnuuid1d773d66-cec7-44a2-b92a-46d00adeae00\">See above (Observation/null)</a></li><li><a href=\"#urnuuid842d9ab9-d940-4f0c-adf9-e5c528f5c0e5\">See above (Observation/null)</a></li><li><a href=\"#urnuuid9a9f9a4a-52e3-4738-bd0b-a25374bbf358\">See above (Observation/null)</a></li><li><a href=\"#urnuuid58828523-8893-45fc-973b-16290366c5e5\">See above (Observation/null)</a></li><li><a href=\"#urnuuid2c28b23f-3e9f-4c03-8c8f-0e76bc5dc9c2\">See above (Observation/null)</a></li><li><a href=\"#urnuuid41bebbe5-e06f-4867-aa22-7c06db69dbd1\">See above (Observation/null)</a></li><li><a href=\"#urnuuid1642f190-e2c6-4999-8040-b9b2a70618bf\">See above (Observation/null)</a></li><li><a href=\"#urnuuidc3587931-242f-4129-93f9-be24500c8f29\">See above (Observation/null)</a></li><li><a href=\"#urnuuid41695fc0-1fd5-4cc8-95e6-82b2848a5cb6\">See above (Observation/null)</a></li><li><a href=\"#urnuuid58eb14f6-4059-4168-86a9-155ae61d30e2\">See above (Observation/null)</a></li><li><a href=\"#urnuuid1a71e80f-b044-4a91-80e1-eadbe5a53dca\">See above (Observation/null)</a></li></ul></div>"
  ];
  fhir:DiagnosticReport.identifier [
     fhir:index 0;
     fhir:Identifier.system [ fhir:value "http://molit.eu/fhir/genomics/NamingSystem/cegat/reportID" ];
     fhir:Identifier.value [ fhir:value "42867" ]
  ];
  fhir:DiagnosticReport.status [ fhir:value "final"];
  fhir:DiagnosticReport.category [
     fhir:index 0;
     fhir:CodeableConcept.coding [
       fhir:index 0;
       fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0074" ];
       fhir:Coding.code [ fhir:value "GE" ];
       fhir:Coding.display [ fhir:value "Genetics" ]     ]
  ];
  fhir:DiagnosticReport.code [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:81247-9;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "81247-9" ];
       fhir:Coding.display [ fhir:value "Master HL7 genetic variant reporting panel" ]     ]
  ];
  fhir:DiagnosticReport.subject [
     fhir:Reference.reference [ fhir:value "urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648" ]
  ];
  fhir:DiagnosticReport.issued [ fhir:value "2019-09-15T11:35:05.722-04:00"^^xsd:dateTime];
  fhir:DiagnosticReport.performer [
     fhir:index 0;
     fhir:Reference.reference [ fhir:value "urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17" ]
  ];
  fhir:DiagnosticReport.specimen [
     fhir:index 0;
     fhir:Reference.reference [ fhir:value "urn:uuid:a2041c83-b73d-4fc8-9466-4ba4a92da516" ]
  ];
  fhir:DiagnosticReport.result [
     fhir:index 0;
     fhir:Reference.reference [ fhir:value "urn:uuid:dac358c3-403a-4dbb-b478-4259aed882ae" ]
  ], [
     fhir:index 1;
     fhir:Reference.reference [ fhir:value "urn:uuid:1d773d66-cec7-44a2-b92a-46d00adeae00" ]
  ], [
     fhir:index 2;
     fhir:Reference.reference [ fhir:value "urn:uuid:842d9ab9-d940-4f0c-adf9-e5c528f5c0e5" ]
  ], [
     fhir:index 3;
     fhir:Reference.reference [ fhir:value "urn:uuid:9a9f9a4a-52e3-4738-bd0b-a25374bbf358" ]
  ], [
     fhir:index 4;
     fhir:Reference.reference [ fhir:value "urn:uuid:58828523-8893-45fc-973b-16290366c5e5" ]
  ], [
     fhir:index 5;
     fhir:Reference.reference [ fhir:value "urn:uuid:2c28b23f-3e9f-4c03-8c8f-0e76bc5dc9c2" ]
  ], [
     fhir:index 6;
     fhir:Reference.reference [ fhir:value "urn:uuid:41bebbe5-e06f-4867-aa22-7c06db69dbd1" ]
  ], [
     fhir:index 7;
     fhir:Reference.reference [ fhir:value "urn:uuid:1642f190-e2c6-4999-8040-b9b2a70618bf" ]
  ], [
     fhir:index 8;
     fhir:Reference.reference [ fhir:value "urn:uuid:c3587931-242f-4129-93f9-be24500c8f29" ]
  ], [
     fhir:index 9;
     fhir:Reference.reference [ fhir:value "urn:uuid:41695fc0-1fd5-4cc8-95e6-82b2848a5cb6" ]
  ], [
     fhir:index 10;
     fhir:Reference.reference [ fhir:value "urn:uuid:58eb14f6-4059-4168-86a9-155ae61d30e2" ]
  ], [
     fhir:index 11;
     fhir:Reference.reference [ fhir:value "urn:uuid:1a71e80f-b044-4a91-80e1-eadbe5a53dca" ]
  ].

# - ontology header ------------------------------------------------------------

 a owl:Ontology;
  owl:imports fhir:fhir.ttl.