{"disease": {"name": "Thyroid cancer", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "thpa"}, "updated_at": "2026-09-18", "genome_builds": ["hg19"], "cohort_count": 2, "cohort_count_status": "observed", "cohort_count_unit": "cohorts", "evaluable_patients": null, "evaluable_patients_status": "unknown", "evaluable_patients_unit": "patients", "alteration_types": ["SNV", "small indel", "amplification", "deep deletion"], "genes": [{"gene": "BRAF", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 286, "tested": 489, "frequency": 58.49, "cohort_count": 2, "frequency_range": {"min": 36.75, "max": 58.49}, "major_variants": ["V600E (n=284)", "K601E (n=2)", "P490_Q494del (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Thyroid Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=thca_tcga_pan_can_atlas_2018", "source_record_id": "thca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=thyroid_mskcc_2016", "source_record_id": "thyroid_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 286/489 patients (58.49%).", "Without the 6 hypermutated patients: 284/483 (58.8%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 286, "tested": 489, "frequency": 58.49, "frequency_excl_hypermutated": 58.8, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 43, "tested": 117, "frequency": 36.75, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 286, "tested": 489, "frequency": 58.49, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "RET", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 1, "tested": 489, "frequency": 0.2, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.2}, "major_variants": ["V945M (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Thyroid Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=thca_tcga_pan_can_atlas_2018", "source_record_id": "thca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=thyroid_mskcc_2016", "source_record_id": "thyroid_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 1/489 patients (0.2%).", "Without the 6 hypermutated patients: 1/483 (0.21%).", "Largest alteration is deep deletion: 2/497 (0.4%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 1, "tested": 489, "frequency": 0.2, "frequency_excl_hypermutated": 0.21, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 0, "tested": 117, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 1.33, "width": 1.0, "reference": 1.33, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 2, "tested": 497, "frequency": 0.4, "is_mutation": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "NRAS", "alteration_types": ["SNV / small indel"], "altered": 39, "tested": 489, "frequency": 7.98, "cohort_count": 2, "frequency_range": {"min": 7.98, "max": 21.37}, "major_variants": ["Q61R (n=31)", "Q61K (n=8)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Thyroid Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=thca_tcga_pan_can_atlas_2018", "source_record_id": "thca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=thyroid_mskcc_2016", "source_record_id": "thyroid_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 39/489 patients (7.98%).", "Without the 6 hypermutated patients: 37/483 (7.66%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 39, "tested": 489, "frequency": 7.98, "frequency_excl_hypermutated": 7.66, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 25, "tested": 117, "frequency": 21.37, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 26.6, "width": 44.63, "reference": 26.6, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 39, "tested": 489, "frequency": 7.98, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "HRAS", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 16, "tested": 489, "frequency": 3.27, "cohort_count": 2, "frequency_range": {"min": 3.27, "max": 5.13}, "major_variants": ["Q61R (n=13)", "Q61K (n=3)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Thyroid Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=thca_tcga_pan_can_atlas_2018", "source_record_id": "thca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=thyroid_mskcc_2016", "source_record_id": "thyroid_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 16/489 patients (3.27%).", "Without the 6 hypermutated patients: 15/483 (3.11%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 16, "tested": 489, "frequency": 3.27, "frequency_excl_hypermutated": 3.11, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 6, "tested": 117, "frequency": 5.13, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.9, "width": 6.2, "reference": 10.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 16, "tested": 489, "frequency": 3.27, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TERT", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 3, "tested": 489, "frequency": 0.61, "cohort_count": 2, "frequency_range": {"min": 0.61, "max": 0.85}, "major_variants": ["R470H (n=1)", "T1113Lfs*62 (n=1)", "S602L (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Thyroid Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=thca_tcga_pan_can_atlas_2018", "source_record_id": "thca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=thyroid_mskcc_2016", "source_record_id": "thyroid_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 3/489 patients (0.61%).", "Without the 6 hypermutated patients: 3/483 (0.62%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 3, "tested": 489, "frequency": 0.61, "frequency_excl_hypermutated": 0.62, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 1, "tested": 117, "frequency": 0.85, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.03, "width": 1.0, "reference": 2.03, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 489, "frequency": 0.61, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TP53", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 2, "tested": 489, "frequency": 0.41, "cohort_count": 2, "frequency_range": {"min": 0.41, "max": 25.64}, "major_variants": ["Q375* (n=1)", "Q192* (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Thyroid Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=thca_tcga_pan_can_atlas_2018", "source_record_id": "thca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=thyroid_mskcc_2016", "source_record_id": "thyroid_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 2/489 patients (0.41%).", "Without the 6 hypermutated patients: 2/483 (0.41%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 2, "tested": 489, "frequency": 0.41, "frequency_excl_hypermutated": 0.41, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 30, "tested": 117, "frequency": 25.64, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 1.37, "width": 84.1, "reference": 1.37, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 489, "frequency": 0.41, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "NTRK1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 0, "tested": 489, "frequency": 0.0, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.85}, "major_variants": [], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Thyroid Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=thca_tcga_pan_can_atlas_2018", "source_record_id": "thca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=thyroid_mskcc_2016", "source_record_id": "thyroid_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 0/489 patients (0.0%).", "Without the 6 hypermutated patients: 0/483 (0.0%).", "Largest alteration is deep deletion: 1/497 (0.2%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 0, "tested": 489, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 1, "tested": 117, "frequency": 0.85, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.67, "width": 1.0, "reference": 0.67, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 1, "tested": 497, "frequency": 0.2, "is_mutation": false}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ALK", "alteration_types": ["SNV / small indel", "deep deletion", "amplification"], "altered": 1, "tested": 489, "frequency": 0.2, "cohort_count": 2, "frequency_range": {"min": 0.2, "max": 0.85}, "major_variants": ["P693S (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Thyroid Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=thca_tcga_pan_can_atlas_2018", "source_record_id": "thca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=thyroid_mskcc_2016", "source_record_id": "thyroid_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 1/489 patients (0.2%).", "Without the 6 hypermutated patients: 1/483 (0.21%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 1, "tested": 489, "frequency": 0.2, "frequency_excl_hypermutated": 0.21, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 1, "tested": 117, "frequency": 0.85, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.67, "width": 2.16, "reference": 0.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 1, "tested": 489, "frequency": 0.2, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PIK3CA", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 4, "tested": 489, "frequency": 0.82, "cohort_count": 2, "frequency_range": {"min": 0.82, "max": 6.84}, "major_variants": ["M1043I (n=1)", "E110del (n=1)", "E674* (n=1)", "G118D (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Thyroid Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=thca_tcga_pan_can_atlas_2018", "source_record_id": "thca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=thyroid_mskcc_2016", "source_record_id": "thyroid_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 4/489 patients (0.82%).", "Without the 6 hypermutated patients: 4/483 (0.83%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 4, "tested": 489, "frequency": 0.82, "frequency_excl_hypermutated": 0.83, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 8, "tested": 117, "frequency": 6.84, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.73, "width": 20.07, "reference": 2.73, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 489, "frequency": 0.82, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TSHR", "alteration_types": ["SNV / small indel"], "altered": 1, "tested": 489, "frequency": 0.2, "cohort_count": 2, "frequency_range": {"min": 0.2, "max": 4.27}, "major_variants": ["M453T (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Thyroid Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=thca_tcga_pan_can_atlas_2018", "source_record_id": "thca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=thyroid_mskcc_2016", "source_record_id": "thyroid_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 1/489 patients (0.2%).", "Without the 6 hypermutated patients: 1/483 (0.21%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 1, "tested": 489, "frequency": 0.2, "frequency_excl_hypermutated": 0.21, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 5, "tested": 117, "frequency": 4.27, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.67, "width": 13.56, "reference": 0.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 1, "tested": 489, "frequency": 0.2, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "SLC5A5", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 1, "tested": 489, "frequency": 0.2, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.2}, "major_variants": ["A581G (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Thyroid Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=thca_tcga_pan_can_atlas_2018", "source_record_id": "thca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=thyroid_mskcc_2016", "source_record_id": "thyroid_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 1/489 patients (0.2%).", "Without the 6 hypermutated patients: 1/483 (0.21%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 1, "tested": 489, "frequency": 0.2, "frequency_excl_hypermutated": 0.21, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 0, "tested": 82, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.0, "reference": 0.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 1, "tested": 489, "frequency": 0.2, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PAX8", "alteration_types": ["SNV / small indel"], "altered": 1, "tested": 489, "frequency": 0.2, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.2}, "major_variants": ["P235Q (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Thyroid Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=thca_tcga_pan_can_atlas_2018", "source_record_id": "thca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=thyroid_mskcc_2016", "source_record_id": "thyroid_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 1/489 patients (0.2%).", "Without the 6 hypermutated patients: 1/483 (0.21%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 1, "tested": 489, "frequency": 0.2, "frequency_excl_hypermutated": 0.21, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 0, "tested": 82, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.0, "reference": 0.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 1, "tested": 489, "frequency": 0.2, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TG", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 19, "tested": 489, "frequency": 3.89, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 3.89}, "major_variants": ["S1619Hfs*12 (n=1)", "L2282Ifs*61 (n=1)", "Q1246P (n=1)", "C1306S (n=1)", "Q1515del (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Thyroid Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=thca_tcga_pan_can_atlas_2018", "source_record_id": "thca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=thyroid_mskcc_2016", "source_record_id": "thyroid_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 19/489 patients (3.89%).", "Without the 6 hypermutated patients: 19/483 (3.93%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 19, "tested": 489, "frequency": 3.89, "frequency_excl_hypermutated": 3.93, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 0, "tested": 82, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 12.97, "reference": 12.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 19, "tested": 489, "frequency": 3.89, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ZFHX3", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 9, "tested": 489, "frequency": 1.84, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 1.84}, "major_variants": ["K1572Rfs*19 (n=2)", "G1022D (n=1)", "H1571R (n=1)", "R2161W (n=1)", "R2988Efs*33 (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Thyroid Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=thca_tcga_pan_can_atlas_2018", "source_record_id": "thca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=thyroid_mskcc_2016", "source_record_id": "thyroid_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 9/489 patients (1.84%).", "Without the 6 hypermutated patients: 9/483 (1.86%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 9, "tested": 489, "frequency": 1.84, "frequency_excl_hypermutated": 1.86, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 0, "tested": 82, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 6.13, "reference": 6.13, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 9, "tested": 489, "frequency": 1.84, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "KMT2A", "alteration_types": ["SNV / small indel"], "altered": 7, "tested": 489, "frequency": 1.43, "cohort_count": 2, "frequency_range": {"min": 1.43, "max": 5.13}, "major_variants": ["D2721V (n=1)", "S3518F (n=1)", "S3518A (n=1)", "Q3624H (n=1)", "N1656T (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Thyroid Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=thca_tcga_pan_can_atlas_2018", "source_record_id": "thca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=thyroid_mskcc_2016", "source_record_id": "thyroid_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 7/489 patients (1.43%).", "Without the 6 hypermutated patients: 6/483 (1.24%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 7, "tested": 489, "frequency": 1.43, "frequency_excl_hypermutated": 1.24, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 6, "tested": 117, "frequency": 5.13, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.77, "width": 12.33, "reference": 4.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 7, "tested": 489, "frequency": 1.43, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "EIF1AX", "alteration_types": ["SNV / small indel", "amplification"], "altered": 7, "tested": 489, "frequency": 1.43, "cohort_count": 2, "frequency_range": {"min": 1.43, "max": 10.26}, "major_variants": ["G9D (n=2)", "X113_splice (n=2)", "A113V (n=1)", "G9R (n=1)", "G8R (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Thyroid Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=thca_tcga_pan_can_atlas_2018", "source_record_id": "thca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=thyroid_mskcc_2016", "source_record_id": "thyroid_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 7/489 patients (1.43%).", "Without the 6 hypermutated patients: 7/483 (1.45%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 7, "tested": 489, "frequency": 1.43, "frequency_excl_hypermutated": 1.45, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 12, "tested": 117, "frequency": 10.26, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.77, "width": 29.43, "reference": 4.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 7, "tested": 489, "frequency": 1.43, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "COL5A3", "alteration_types": ["SNV / small indel"], "altered": 7, "tested": 489, "frequency": 1.43, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 1.43}, "major_variants": ["R219W (n=1)", "P606H (n=1)", "Q236E (n=1)", "G1388C (n=1)", "R1644H (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Thyroid Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=thca_tcga_pan_can_atlas_2018", "source_record_id": "thca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=thyroid_mskcc_2016", "source_record_id": "thyroid_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 7/489 patients (1.43%).", "Without the 6 hypermutated patients: 5/483 (1.04%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 7, "tested": 489, "frequency": 1.43, "frequency_excl_hypermutated": 1.04, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 0, "tested": 82, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 4.77, "reference": 4.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 7, "tested": 489, "frequency": 1.43, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PIK3R5", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 6, "tested": 489, "frequency": 1.23, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 1.23}, "major_variants": ["K104E (n=1)", "Q555H (n=1)", "A666V (n=1)", "D76N (n=1)", "Y291* (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Thyroid Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=thca_tcga_pan_can_atlas_2018", "source_record_id": "thca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=thyroid_mskcc_2016", "source_record_id": "thyroid_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 6/489 patients (1.23%).", "Without the 6 hypermutated patients: 5/483 (1.04%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 6, "tested": 489, "frequency": 1.23, "frequency_excl_hypermutated": 1.04, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 0, "tested": 82, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 4.1, "reference": 4.1, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 489, "frequency": 1.23, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "KMT2C", "alteration_types": ["SNV / small indel", "amplification"], "altered": 6, "tested": 489, "frequency": 1.23, "cohort_count": 2, "frequency_range": {"min": 1.23, "max": 2.56}, "major_variants": ["Q3591* (n=1)", "S3213L (n=1)", "S888F (n=1)", "C394S (n=1)", "K3847N (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; 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the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 6/489 patients (1.23%).", "Without the 6 hypermutated patients: 6/483 (1.24%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 6, "tested": 489, "frequency": 1.23, "frequency_excl_hypermutated": 1.24, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 3, "tested": 117, "frequency": 2.56, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.1, "width": 4.43, "reference": 4.1, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 489, "frequency": 1.23, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ITPR2", "alteration_types": ["SNV / small indel"], "altered": 6, "tested": 489, "frequency": 1.23, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 1.23}, "major_variants": ["E975V (n=1)", "M1576I (n=1)", "V483I (n=1)", "R780H (n=1)", "A2351V (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; 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the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 5/489 patients (1.02%).", "Without the 6 hypermutated patients: 5/483 (1.04%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 5, "tested": 489, "frequency": 1.02, "frequency_excl_hypermutated": 1.04, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 0, "tested": 82, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 3.4, "reference": 3.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 5, "tested": 489, "frequency": 1.02, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TENM2", "alteration_types": ["SNV / small indel", "amplification"], "altered": 5, "tested": 489, "frequency": 1.02, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 1.02}, "major_variants": ["P997Q (n=1)", "D904Y (n=1)", "P1801H (n=1)", "I1803T (n=1)", "A1538V (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; 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the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 5/489 patients (1.02%).", "Without the 6 hypermutated patients: 3/483 (0.62%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 5, "tested": 489, "frequency": 1.02, "frequency_excl_hypermutated": 0.62, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 0, "tested": 82, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 3.4, "reference": 3.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 5, "tested": 489, "frequency": 1.02, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TACC2", "alteration_types": ["SNV / small indel"], "altered": 5, "tested": 489, "frequency": 1.02, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 1.02}, "major_variants": ["G438_S439dup (n=1)", "A1255S (n=1)", "M200V (n=1)", "R606H (n=1)", "R2728S (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; 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not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Thyroid Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=thca_tcga_pan_can_atlas_2018", "source_record_id": "thca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=thyroid_mskcc_2016", "source_record_id": "thyroid_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 5/489 patients (1.02%).", "Without the 6 hypermutated patients: 5/483 (1.04%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 5, "tested": 489, "frequency": 1.02, "frequency_excl_hypermutated": 1.04, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 0, "tested": 117, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 3.4, "reference": 3.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 5, "tested": 489, "frequency": 1.02, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ZC3H13", "alteration_types": ["SNV / small indel"], "altered": 4, "tested": 489, "frequency": 0.82, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.82}, "major_variants": ["R384G (n=1)", "P1035H (n=1)", "E28V (n=1)", "R646* (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Thyroid Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=thca_tcga_pan_can_atlas_2018", "source_record_id": "thca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=thyroid_mskcc_2016", "source_record_id": "thyroid_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 4/489 patients (0.82%).", "Without the 6 hypermutated patients: 3/483 (0.62%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 4, "tested": 489, "frequency": 0.82, "frequency_excl_hypermutated": 0.62, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 0, "tested": 82, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 2.73, "reference": 2.73, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 489, "frequency": 0.82, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "WNK2", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 4, "tested": 489, "frequency": 0.82, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.82}, "major_variants": ["S2123N (n=1)", "P1555A (n=1)", "H422Y (n=1)", "P793L (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Thyroid Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=thca_tcga_pan_can_atlas_2018", "source_record_id": "thca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=thyroid_mskcc_2016", "source_record_id": "thyroid_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 4/489 patients (0.82%).", "Without the 6 hypermutated patients: 4/483 (0.83%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 4, "tested": 489, "frequency": 0.82, "frequency_excl_hypermutated": 0.83, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 0, "tested": 82, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 2.73, "reference": 2.73, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 489, "frequency": 0.82, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "WDR33", "alteration_types": ["SNV / small indel"], "altered": 4, "tested": 489, "frequency": 0.82, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.82}, "major_variants": ["P587R (n=1)", "S1210C (n=1)", "D1137N (n=1)", "G980W (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; 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the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 4/489 patients (0.82%).", "Without the 6 hypermutated patients: 4/483 (0.83%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 4, "tested": 489, "frequency": 0.82, "frequency_excl_hypermutated": 0.83, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 0, "tested": 82, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 2.73, "reference": 2.73, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 489, "frequency": 0.82, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "UGGT2", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 4, "tested": 489, "frequency": 0.82, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.82}, "major_variants": ["L14Q (n=1)", "N787T (n=1)", "W1488C (n=1)", "E786D (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Thyroid Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=thca_tcga_pan_can_atlas_2018", "source_record_id": "thca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=thyroid_mskcc_2016", "source_record_id": "thyroid_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 4/489 patients (0.82%).", "Without the 6 hypermutated patients: 3/483 (0.62%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 4, "tested": 489, "frequency": 0.82, "frequency_excl_hypermutated": 0.62, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 0, "tested": 82, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 2.73, "reference": 2.73, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 489, "frequency": 0.82, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "UBQLN2", "alteration_types": ["SNV / small indel"], "altered": 4, "tested": 489, "frequency": 0.82, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.82}, "major_variants": ["R309S (n=2)", "P573S (n=1)", "P414Q (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Thyroid Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=thca_tcga_pan_can_atlas_2018", "source_record_id": "thca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=thyroid_mskcc_2016", "source_record_id": "thyroid_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 4/489 patients (0.82%).", "Without the 6 hypermutated patients: 2/483 (0.41%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 4, "tested": 489, "frequency": 0.82, "frequency_excl_hypermutated": 0.41, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 0, "tested": 82, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 2.73, "reference": 2.73, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 489, "frequency": 0.82, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "THBS2", "alteration_types": ["SNV / small indel", "amplification"], "altered": 4, "tested": 489, "frequency": 0.82, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.82}, "major_variants": ["R460C (n=1)", "G94C (n=1)", "G773V (n=1)", "G247S (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Thyroid Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=thca_tcga_pan_can_atlas_2018", "source_record_id": "thca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=thyroid_mskcc_2016", "source_record_id": "thyroid_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 4/489 patients (0.82%).", "Without the 6 hypermutated patients: 2/483 (0.41%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 4, "tested": 489, "frequency": 0.82, "frequency_excl_hypermutated": 0.41, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 0, "tested": 82, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 2.73, "reference": 2.73, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 489, "frequency": 0.82, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TENM4", "alteration_types": ["SNV / small indel"], "altered": 4, "tested": 489, "frequency": 0.82, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.82}, "major_variants": ["E1004* (n=1)", "E1162K (n=1)", "P1510H (n=1)", "A2587S (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Thyroid Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=thca_tcga_pan_can_atlas_2018", "source_record_id": "thca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=thyroid_mskcc_2016", "source_record_id": "thyroid_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 4/489 patients (0.82%).", "Without the 6 hypermutated patients: 3/483 (0.62%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 4, "tested": 489, "frequency": 0.82, "frequency_excl_hypermutated": 0.62, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 0, "tested": 82, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 2.73, "reference": 2.73, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 489, "frequency": 0.82, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "STOX2", "alteration_types": ["SNV / small indel"], "altered": 4, "tested": 489, "frequency": 0.82, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.82}, "major_variants": ["Q70* (n=1)", "G267W (n=1)", "S240R (n=1)", "P638T (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Thyroid Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=thca_tcga_pan_can_atlas_2018", "source_record_id": "thca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=thyroid_mskcc_2016", "source_record_id": "thyroid_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Thyroid Carcinoma (TCGA, PanCancer Atlas), 4/489 patients (0.82%).", "Without the 6 hypermutated patients: 3/483 (0.62%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "thca_tcga_pan_can_atlas_2018", "cohort_name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "altered": 4, "tested": 489, "frequency": 0.82, "frequency_excl_hypermutated": 0.62, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "490/500", "coverage_note": null, "source_id": "thca_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "thyroid_mskcc_2016", "cohort_name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "altered": 0, "tested": 82, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "117/117", "coverage_note": null, "source_id": "thyroid_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 2.73, "reference": 2.73, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 489, "frequency": 0.82, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}], "variants": [], "genomic_events": [{"event_type": "copy_number", "gene": "TP53", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "TP53 deep deletion", "genomic_coordinate": null, "observed": 4, "observed_status": "observed", "observed_unit": "patients", "tested": 117, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.42, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["thyroid_mskcc_2016"], "source_ids": ["thyroid_mskcc_2016_gistic"], "evidence_confidence": "moderate", "details": null}], "modality_summary": [{"modality": "SNV / small indel", "available_cohorts": 2, "total_cohorts": 2}, {"modality": "Copy number (discrete)", "available_cohorts": 2, "total_cohorts": 2}, {"modality": "Structural variant (present, not read)", "available_cohorts": 2, "total_cohorts": 2}], "chromosome_summary": [], "cohorts": [{"name": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "source": "cBioPortal", "accession": "thca_tcga_pan_can_atlas_2018", "patients": {"value": 489, "status": "observed", "unit": "patients"}, "samples": {"value": 490, "status": "observed", "unit": "samples"}, "disease_subtype": "Thyroid Carcinoma (TCGA, PanCancer Atlas)", "assay_type": "exome or genome", "sequencing_method": "WES (490)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "amplification", "deep deletion", "structural variant (profile present, not read)"], "genes_assayed": "all coding genes", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-18", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "thca_tcga_pan_can_atlas_2018", "is_demo": false, "assay_coverage": {"patients_with_calls": 489, "patients_in_roster": 489, "frequencies_computed": true, "samples_sequenced": 490, "samples_in_study": 500, "hypermutated_patients": 6, "median_mutations_per_sample": 10.0, "reason": null}}, {"name": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "source": "cBioPortal", "accession": "thyroid_mskcc_2016", "patients": {"value": 117, "status": "observed", "unit": "patients"}, "samples": {"value": 117, "status": "observed", "unit": "samples"}, "disease_subtype": "Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "assay_type": "mixed", "sequencing_method": "WES (82), IMPACT341 (35)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "amplification", "deep deletion", "structural variant (profile present, not read)"], "genes_assayed": "panel genes only; per-gene denominators", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-18", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "thyroid_mskcc_2016", "is_demo": false, "assay_coverage": {"patients_with_calls": 117, "patients_in_roster": 117, "frequencies_computed": true, "samples_sequenced": 117, "samples_in_study": 117, "hypermutated_patients": 0, "median_mutations_per_sample": 2, "reason": null}}], "sources": [{"source_name": "cBioPortal · Thyroid Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=thca_tcga_pan_can_atlas_2018", "source_record_id": "thca_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Poorly-Differentiated and Anaplastic Thyroid Cancers (MSK, JCI 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=thyroid_mskcc_2016", "source_record_id": "thyroid_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "limitations": ["A cBioPortal public-API snapshot retrieved 2026-09-18; the page does not refresh source data at request time.", "Counts are patients with at least one non-silent call in the study's sequenced sample list; silent, intronic and UTR calls are excluded.", "For targeted-panel cohorts each gene divides by the patients whose panel carried it; a gene absent from the panel is shown as not assayed, not as zero.", "Copy-number rows use discrete calls (2 = high-level amplification, −2 = deep deletion) against the cohort's copy-number sample list, which is a different roster from the sequenced one.", "Cohorts are not pooled. Cross-study patient overlap has not been checked and no disease-wide frequency is reported.", "Structural variants and fusions are not read in this snapshot even where the study carries a profile; germline variants, mutational signatures, TMB and MSI are not reported.", "The gene set is the briefing's curated targets plus the reference cohort's most frequently mutated genes; it is not genome-wide."], "answer_block": ["In Thyroid Carcinoma (TCGA, PanCancer Atlas) (489 sequenced patients, exome or genome), the most frequently altered of the 49 genes shown are BRAF 58.49%, NRAS 7.98%, TG 3.89%, HRAS 3.27%, ZFHX3 1.84%. Each figure divides by the patients on whom that gene could be called.", "6 of 489 patients are hypermutated (more than 100 non-silent mutations, ten times the cohort median of 10); every gene's frequency without them is beside the headline.", "Of the briefing's 12 curated targets, 9 are altered in under 2% of this cohort (RET, TERT, TP53, NTRK1, ALK, PIK3CA, TSHR, SLC5A5, PAX8): targets by expression, dependency or drug label, not by mutation. Frequency is not targetability, in either direction.", "2 cohorts are shown and none are pooled; overlap between them has not been checked and there is no disease-wide percentage."], "key_findings": [{"finding": "BRAF is mutated in 286 of 489 patients in Thyroid Carcinoma (TCGA, PanCancer Atlas).", "numerator": 286, "denominator": 489, "frequency": 58.49, "cohorts": 2, "evidence_confidence": "moderate", "source": "thca_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-18"}, {"finding": "NRAS is mutated in 39 of 489 patients in Thyroid Carcinoma (TCGA, PanCancer Atlas).", "numerator": 39, "denominator": 489, "frequency": 7.98, "cohorts": 2, "evidence_confidence": "moderate", "source": "thca_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-18"}, {"finding": "TG is mutated in 19 of 489 patients in Thyroid Carcinoma (TCGA, PanCancer Atlas).", "numerator": 19, "denominator": 489, "frequency": 3.89, "cohorts": 1, "evidence_confidence": "moderate", "source": "thca_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-18"}], "research_gaps": [{"kind": "Structural variants", "text": "Read the structural-variant profiles the studies carry; fusions are the defining event in several of these diseases."}, {"kind": "Context", "text": "Stage, subtype, age and treatment line are not attached to any count; the cohorts differ on all four."}, {"kind": "Interpretation", "text": "Activating versus inactivating, actionable versus not, and evidence level are not inferred here; the briefing's target table carries the drug and trial facts."}], "observations": [], "data_status": "PUBLIC SOURCE SNAPSHOT", "is_demo": false, "reference_cohort": "thca_tcga_pan_can_atlas_2018", "region_events": [], "matrix": [{"label": "BRAF", "kind": "SNV / small indel", "gene": "BRAF", "cells": [{"cohort": "thca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 58.49, "altered": 286, "tested": 489, "note": null}, {"cohort": "thyroid_mskcc_2016", "status": "observed", "frequency": 36.75, "altered": 43, "tested": 117, "note": null}]}, {"label": "RET", "kind": "SNV / small indel", "gene": "RET", "cells": [{"cohort": "thca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.2, "altered": 1, "tested": 489, "note": null}, {"cohort": "thyroid_mskcc_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 117, "note": null}]}, {"label": "NRAS", "kind": "SNV / small indel", "gene": "NRAS", "cells": [{"cohort": "thca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.98, "altered": 39, "tested": 489, "note": null}, {"cohort": "thyroid_mskcc_2016", "status": "observed", "frequency": 21.37, "altered": 25, "tested": 117, "note": null}]}, {"label": "HRAS", "kind": "SNV / small indel", "gene": "HRAS", "cells": [{"cohort": "thca_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.27, "altered": 16, "tested": 489, "note": null}, {"cohort": "thyroid_mskcc_2016", "status": "observed", "frequency": 5.13, "altered": 6, "tested": 117, "note": null}]}, 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