{"disease": {"name": "Soft tissue sarcoma", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "soft_tissue"}, "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": "TP53", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 85, "tested": 255, "frequency": 33.33, "cohort_count": 2, "frequency_range": {"min": 18.57, "max": 33.33}, "major_variants": ["X187_splice (n=4)", "R175H (n=4)", "R248W (n=3)", "W91* (n=2)", "C275Y (n=2)"], "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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 85/255 patients (33.33%).", "Without the 8 hypermutated patients: 80/247 (32.39%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 85, "tested": 255, "frequency": 33.33, "frequency_excl_hypermutated": 32.39, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "255/255", "coverage_note": null, "source_id": "sarc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "sarcoma_mskcc_2022", "cohort_name": "Sarcoma (MSK, Nat Commun. 2022)", "altered": 397, "tested": 2138, "frequency": 18.57, "frequency_excl_hypermutated": 18.53, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 61.9, "width": 38.1, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 85, "tested": 255, "frequency": 33.33, "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": "MDM2", "alteration_types": ["SNV / small indel", "amplification"], "altered": 5, "tested": 255, "frequency": 1.96, "cohort_count": 2, "frequency_range": {"min": 0.28, "max": 1.96}, "major_variants": ["L230F (n=1)", "S221C (n=1)", "I211T (n=1)", "D231N (n=1)", "V234I (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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 5/255 patients (1.96%).", "Without the 8 hypermutated patients: 4/247 (1.62%).", "Largest alteration is amplification: 47/253 (18.58%) in the reference cohort's copy-number profile.", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 5, "tested": 255, "frequency": 1.96, "frequency_excl_hypermutated": 1.62, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "255/255", "coverage_note": null, "source_id": "sarc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "sarcoma_mskcc_2022", "cohort_name": "Sarcoma (MSK, Nat Commun. 2022)", "altered": 6, "tested": 2138, "frequency": 0.28, "frequency_excl_hypermutated": 0.28, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 61.93, "width": 1.0, "reference": 61.93, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 47, "tested": 253, "frequency": 18.58, "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": "CDK4", "alteration_types": ["SNV / small indel", "amplification"], "altered": 1, "tested": 255, "frequency": 0.39, "cohort_count": 2, "frequency_range": {"min": 0.23, "max": 0.39}, "major_variants": ["G15R (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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 1/255 patients (0.39%).", "Without the 8 hypermutated patients: 1/247 (0.4%).", "Largest alteration is amplification: 44/253 (17.39%) in the reference cohort's copy-number profile.", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 1, "tested": 255, "frequency": 0.39, "frequency_excl_hypermutated": 0.4, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "255/255", "coverage_note": null, "source_id": "sarc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "sarcoma_mskcc_2022", "cohort_name": "Sarcoma (MSK, Nat Commun. 2022)", "altered": 5, "tested": 2138, "frequency": 0.23, "frequency_excl_hypermutated": 0.23, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 57.97, "width": 1.0, "reference": 57.97, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 44, "tested": 253, "frequency": 17.39, "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": "RB1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 25, "tested": 255, "frequency": 9.8, "cohort_count": 2, "frequency_range": {"min": 4.63, "max": 9.8}, "major_variants": ["Q384* (n=1)", "Q504* (n=1)", "Y155* (n=1)", "X888_splice (n=1)", "N623Kfs*30 (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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 25/255 patients (9.8%).", "Without the 8 hypermutated patients: 22/247 (8.91%).", "Largest alteration is deep deletion: 37/253 (14.62%) in the reference cohort's copy-number profile.", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 25, "tested": 255, "frequency": 9.8, "frequency_excl_hypermutated": 8.91, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "255/255", "coverage_note": null, "source_id": "sarc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "sarcoma_mskcc_2022", "cohort_name": "Sarcoma (MSK, Nat Commun. 2022)", "altered": 99, "tested": 2138, "frequency": 4.63, "frequency_excl_hypermutated": 4.63, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 48.73, "width": 1.0, "reference": 48.73, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 37, "tested": 253, "frequency": 14.62, "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": "PDGFRA", "alteration_types": ["SNV / small indel", "amplification"], "altered": 1, "tested": 255, "frequency": 0.39, "cohort_count": 2, "frequency_range": {"min": 0.39, "max": 2.06}, "major_variants": ["M448R (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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 1/255 patients (0.39%).", "Without the 8 hypermutated patients: 0/247 (0.0%).", "Largest alteration is amplification: 8/253 (3.16%) in the reference cohort's copy-number profile.", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 1, "tested": 255, "frequency": 0.39, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "255/255", "coverage_note": null, "source_id": "sarc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "sarcoma_mskcc_2022", "cohort_name": "Sarcoma (MSK, Nat Commun. 2022)", "altered": 44, "tested": 2138, "frequency": 2.06, "frequency_excl_hypermutated": 2.01, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.53, "width": 1.0, "reference": 10.53, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 8, "tested": 253, "frequency": 3.16, "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": "NTRK1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 3, "tested": 255, "frequency": 1.18, "cohort_count": 2, "frequency_range": {"min": 0.47, "max": 1.18}, "major_variants": ["V354I (n=1)", "G169R (n=1)", "R583C (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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 3/255 patients (1.18%).", "Without the 8 hypermutated patients: 2/247 (0.81%).", "Largest alteration is amplification: 11/253 (4.35%) in the reference cohort's copy-number profile.", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 3, "tested": 255, "frequency": 1.18, "frequency_excl_hypermutated": 0.81, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "255/255", "coverage_note": null, "source_id": "sarc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "sarcoma_mskcc_2022", "cohort_name": "Sarcoma (MSK, Nat Commun. 2022)", "altered": 10, "tested": 2138, "frequency": 0.47, "frequency_excl_hypermutated": 0.42, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 14.5, "width": 1.0, "reference": 14.5, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 11, "tested": 253, "frequency": 4.35, "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": "ALK", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 3, "tested": 255, "frequency": 1.18, "cohort_count": 2, "frequency_range": {"min": 0.7, "max": 1.18}, "major_variants": ["X786_splice (n=1)", "E570D (n=1)", "L1319I (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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 3/255 patients (1.18%).", "Without the 8 hypermutated patients: 2/247 (0.81%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 3, "tested": 255, "frequency": 1.18, "frequency_excl_hypermutated": 0.81, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "255/255", "coverage_note": null, "source_id": "sarc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "sarcoma_mskcc_2022", "cohort_name": "Sarcoma (MSK, Nat Commun. 2022)", "altered": 15, "tested": 2138, "frequency": 0.7, "frequency_excl_hypermutated": 0.66, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.33, "width": 1.6, "reference": 3.93, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 255, "frequency": 1.18, "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": "PDGFRB", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 3, "tested": 255, "frequency": 1.18, "cohort_count": 2, "frequency_range": {"min": 0.8, "max": 1.18}, "major_variants": ["P346T (n=1)", "D850Y (n=1)", "L1076F (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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 3/255 patients (1.18%).", "Without the 8 hypermutated patients: 1/247 (0.4%).", "Largest alteration is amplification: 3/253 (1.19%) in the reference cohort's copy-number profile.", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 3, "tested": 255, "frequency": 1.18, "frequency_excl_hypermutated": 0.4, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "255/255", "coverage_note": null, "source_id": "sarc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "sarcoma_mskcc_2022", "cohort_name": "Sarcoma (MSK, Nat Commun. 2022)", "altered": 17, "tested": 2138, "frequency": 0.8, "frequency_excl_hypermutated": 0.75, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.97, "width": 1.0, "reference": 3.97, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 3, "tested": 253, "frequency": 1.19, "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": "NF1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 10, "tested": 255, "frequency": 3.92, "cohort_count": 2, "frequency_range": {"min": 3.04, "max": 3.92}, "major_variants": ["Y628Tfs*3 (n=1)", "H1170Q (n=1)", "L1564F (n=1)", "X2215_splice (n=1)", "A308Cfs*7 (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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 10/255 patients (3.92%).", "Without the 8 hypermutated patients: 8/247 (3.24%).", "Largest alteration is deep deletion: 10/253 (3.95%) in the reference cohort's copy-number profile.", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 10, "tested": 255, "frequency": 3.92, "frequency_excl_hypermutated": 3.24, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "255/255", "coverage_note": null, "source_id": "sarc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "sarcoma_mskcc_2022", "cohort_name": "Sarcoma (MSK, Nat Commun. 2022)", "altered": 65, "tested": 2138, "frequency": 3.04, "frequency_excl_hypermutated": 2.99, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 13.17, "width": 1.0, "reference": 13.17, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 10, "tested": 253, "frequency": 3.95, "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": "SS18", "alteration_types": ["amplification"], "altered": 0, "tested": 255, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 0/255 patients (0.0%).", "Without the 8 hypermutated patients: 0/247 (0.0%).", "Largest alteration is amplification: 3/253 (1.19%) in the reference cohort's copy-number profile.", "Observed in 0 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 0, "tested": 255, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "255/255", "coverage_note": null, "source_id": "sarc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "sarcoma_mskcc_2022", "cohort_name": "Sarcoma (MSK, Nat Commun. 2022)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.97, "width": 1.0, "reference": 3.97, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 3, "tested": 253, "frequency": 1.19, "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": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "TERT", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 4, "tested": 255, "frequency": 1.57, "cohort_count": 2, "frequency_range": {"min": 0.56, "max": 1.57}, "major_variants": ["R698W (n=1)", "L621I (n=1)", "N1120S (n=1)", "G1060C (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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 4/255 patients (1.57%).", "Without the 8 hypermutated patients: 3/247 (1.21%).", "Largest alteration is amplification: 12/253 (4.74%) in the reference cohort's copy-number profile.", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 4, "tested": 255, "frequency": 1.57, "frequency_excl_hypermutated": 1.21, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "255/255", "coverage_note": null, "source_id": "sarc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "sarcoma_mskcc_2022", "cohort_name": "Sarcoma (MSK, Nat Commun. 2022)", "altered": 12, "tested": 2138, "frequency": 0.56, "frequency_excl_hypermutated": 0.56, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 15.8, "width": 1.0, "reference": 15.8, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 12, "tested": 253, "frequency": 4.74, "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": "CTAG1B", "alteration_types": [], "altered": 0, "tested": 255, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 0/255 patients (0.0%).", "Without the 8 hypermutated patients: 0/247 (0.0%).", "Observed in 0 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 0, "tested": 255, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "255/255", "coverage_note": null, "source_id": "sarc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "sarcoma_mskcc_2022", "cohort_name": "Sarcoma (MSK, Nat Commun. 2022)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.0, "reference": 0.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 0, "tested": 255, "frequency": 0.0, "is_mutation": true}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "ATRX", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 36, "tested": 255, "frequency": 14.12, "cohort_count": 2, "frequency_range": {"min": 6.83, "max": 14.12}, "major_variants": ["M828* (n=1)", "G1567D (n=1)", "S1253* (n=1)", "G1589E (n=1)", "E723* (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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 36/255 patients (14.12%).", "Without the 8 hypermutated patients: 36/247 (14.57%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 36, "tested": 255, "frequency": 14.12, "frequency_excl_hypermutated": 14.57, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "255/255", "coverage_note": null, "source_id": "sarc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "sarcoma_mskcc_2022", "cohort_name": "Sarcoma (MSK, Nat Commun. 2022)", "altered": 146, "tested": 2138, "frequency": 6.83, "frequency_excl_hypermutated": 6.83, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 22.77, "width": 24.3, "reference": 47.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 36, "tested": 255, "frequency": 14.12, "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": "SCN2A", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 13, "tested": 255, "frequency": 5.1, "cohort_count": 1, "frequency_range": {"min": 5.1, "max": 5.1}, "major_variants": ["R379C (n=1)", "G1149* (n=1)", "F1677Y (n=1)", "K749E (n=1)", "V1579M (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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 13/255 patients (5.1%).", "Without the 8 hypermutated patients: 13/247 (5.26%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 13, "tested": 255, "frequency": 5.1, "frequency_excl_hypermutated": 5.26, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "255/255", "coverage_note": null, "source_id": "sarc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "sarcoma_mskcc_2022", "cohort_name": "Sarcoma (MSK, Nat Commun. 2022)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 17.0, "width": 1.0, "reference": 17.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 13, "tested": 255, "frequency": 5.1, "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": "FCGBP", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 11, "tested": 255, "frequency": 4.31, "cohort_count": 1, "frequency_range": {"min": 4.31, "max": 4.31}, "major_variants": ["X2334_splice (n=1)", "G877S (n=1)", "K4889Q (n=1)", "A407D (n=1)", "G1220S (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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 11/255 patients (4.31%).", "Without the 8 hypermutated patients: 9/247 (3.64%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 11, "tested": 255, "frequency": 4.31, "frequency_excl_hypermutated": 3.64, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "255/255", "coverage_note": null, "source_id": "sarc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "sarcoma_mskcc_2022", "cohort_name": "Sarcoma (MSK, Nat Commun. 2022)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 14.37, "width": 1.0, "reference": 14.37, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 11, "tested": 255, "frequency": 4.31, "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": "SPHKAP", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 10, "tested": 255, "frequency": 3.92, "cohort_count": 1, "frequency_range": {"min": 3.92, "max": 3.92}, "major_variants": ["S1397I (n=1)", "E578Rfs*2 (n=1)", "T827K (n=1)", "E594K (n=1)", "E578G (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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 10/255 patients (3.92%).", "Without the 8 hypermutated patients: 9/247 (3.64%).", "Largest alteration is deep deletion: 11/253 (4.35%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 10, "tested": 255, "frequency": 3.92, "frequency_excl_hypermutated": 3.64, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "255/255", "coverage_note": null, "source_id": "sarc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "sarcoma_mskcc_2022", "cohort_name": "Sarcoma (MSK, Nat Commun. 2022)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 14.5, "width": 1.0, "reference": 14.5, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 11, "tested": 253, "frequency": 4.35, "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": "PRKDC", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 10, "tested": 255, "frequency": 3.92, "cohort_count": 1, "frequency_range": {"min": 3.92, "max": 3.92}, "major_variants": ["Q3073* (n=1)", "G2708E (n=1)", "L1857I (n=1)", "A1148E (n=1)", "A1404D (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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 10/255 patients (3.92%).", "Without the 8 hypermutated patients: 8/247 (3.24%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 10, "tested": 255, "frequency": 3.92, "frequency_excl_hypermutated": 3.24, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "255/255", "coverage_note": null, "source_id": "sarc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "sarcoma_mskcc_2022", "cohort_name": "Sarcoma (MSK, Nat Commun. 2022)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 13.07, "width": 1.0, "reference": 13.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 10, "tested": 255, "frequency": 3.92, "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": "NAV3", "alteration_types": ["SNV / small indel", "amplification"], "altered": 10, "tested": 255, "frequency": 3.92, "cohort_count": 1, "frequency_range": {"min": 3.92, "max": 3.92}, "major_variants": ["S1292L (n=1)", "S1081N (n=1)", "S1293Y (n=1)", "A1620S (n=1)", "R750Q (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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 10/255 patients (3.92%).", "Without the 8 hypermutated patients: 7/247 (2.83%).", "Largest alteration is amplification: 27/253 (10.67%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 10, "tested": 255, "frequency": 3.92, "frequency_excl_hypermutated": 2.83, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "255/255", "coverage_note": null, "source_id": "sarc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "sarcoma_mskcc_2022", "cohort_name": "Sarcoma (MSK, Nat Commun. 2022)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 35.57, "width": 1.0, "reference": 35.57, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 27, "tested": 253, "frequency": 10.67, "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": "FREM2", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 10, "tested": 255, "frequency": 3.92, "cohort_count": 1, "frequency_range": {"min": 3.92, "max": 3.92}, "major_variants": ["M1204L (n=1)", "L763F (n=1)", "M1193I (n=1)", "X2057_splice (n=1)", "T2812N (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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 10/255 patients (3.92%).", "Without the 8 hypermutated patients: 8/247 (3.24%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 10, "tested": 255, "frequency": 3.92, "frequency_excl_hypermutated": 3.24, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "255/255", "coverage_note": null, "source_id": "sarc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "sarcoma_mskcc_2022", "cohort_name": "Sarcoma (MSK, Nat Commun. 2022)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 13.07, "width": 1.0, "reference": 13.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 10, "tested": 255, "frequency": 3.92, "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": "DOCK3", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 10, "tested": 255, "frequency": 3.92, "cohort_count": 1, "frequency_range": {"min": 3.92, "max": 3.92}, "major_variants": ["R844L (n=1)", "E893V (n=1)", "M1622I (n=1)", "A1318S (n=1)", "E753K (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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 10/255 patients (3.92%).", "Without the 8 hypermutated patients: 4/247 (1.62%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 10, "tested": 255, "frequency": 3.92, "frequency_excl_hypermutated": 1.62, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "255/255", "coverage_note": null, "source_id": "sarc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "sarcoma_mskcc_2022", "cohort_name": "Sarcoma (MSK, Nat Commun. 2022)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 13.07, "width": 1.0, "reference": 13.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 10, "tested": 255, "frequency": 3.92, "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": "CFAP54", "alteration_types": ["SNV / small indel"], "altered": 10, "tested": 255, "frequency": 3.92, "cohort_count": 1, "frequency_range": {"min": 3.92, "max": 3.92}, "major_variants": ["W1941S (n=1)", "I1616S (n=1)", "X190_splice (n=1)", "D782N (n=1)", "K173T (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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 10/255 patients (3.92%).", "Without the 8 hypermutated patients: 7/247 (2.83%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 10, "tested": 255, "frequency": 3.92, "frequency_excl_hypermutated": 2.83, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "255/255", "coverage_note": null, "source_id": "sarc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "sarcoma_mskcc_2022", "cohort_name": "Sarcoma (MSK, Nat Commun. 2022)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 13.07, "width": 1.0, "reference": 13.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 10, "tested": 255, "frequency": 3.92, "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": "ZAN", "alteration_types": ["SNV / small indel", "amplification"], "altered": 9, "tested": 255, "frequency": 3.53, "cohort_count": 1, "frequency_range": {"min": 3.53, "max": 3.53}, "major_variants": ["L1614P (n=1)", "Q1704H (n=1)", "A2118S (n=1)", "E932G (n=1)", "Q1772H (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference 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"source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 9/255 patients (3.53%).", "Without the 8 hypermutated patients: 5/247 (2.02%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 9, "tested": 255, "frequency": 3.53, "frequency_excl_hypermutated": 2.02, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "255/255", "coverage_note": null, "source_id": "sarc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "sarcoma_mskcc_2022", "cohort_name": "Sarcoma (MSK, Nat Commun. 2022)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.77, "width": 1.0, "reference": 11.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 9, "tested": 255, "frequency": 3.53, "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": "TRPM6", "alteration_types": ["SNV / small indel", "amplification"], "altered": 9, "tested": 255, "frequency": 3.53, "cohort_count": 1, "frequency_range": {"min": 3.53, "max": 3.53}, "major_variants": ["I513F (n=1)", "S1790Y (n=1)", "S90R (n=1)", "K1492N (n=1)", "D309V (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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 9/255 patients (3.53%).", "Without the 8 hypermutated patients: 8/247 (3.24%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 9, "tested": 255, "frequency": 3.53, "frequency_excl_hypermutated": 3.24, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "255/255", "coverage_note": null, "source_id": "sarc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "sarcoma_mskcc_2022", "cohort_name": "Sarcoma (MSK, Nat Commun. 2022)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.77, "width": 1.0, "reference": 11.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 9, "tested": 255, "frequency": 3.53, "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": "SPTBN4", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 9, "tested": 255, "frequency": 3.53, "cohort_count": 1, "frequency_range": {"min": 3.53, "max": 3.53}, "major_variants": ["A2T (n=1)", "S378N (n=1)", "A1001T (n=1)", "K1970N (n=1)", "E868K (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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat 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"frequency_excl_hypermutated": 2.02, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "255/255", "coverage_note": null, "source_id": "sarc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "sarcoma_mskcc_2022", "cohort_name": "Sarcoma (MSK, Nat Commun. 2022)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.87, "width": 1.0, "reference": 11.87, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 9, "tested": 253, "frequency": 3.56, "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": "MYO15A", "alteration_types": ["SNV / small indel", "amplification"], "altered": 9, "tested": 255, "frequency": 3.53, "cohort_count": 1, "frequency_range": {"min": 3.53, "max": 3.53}, "major_variants": ["L358I (n=1)", "D1454Y (n=1)", "R567L (n=1)", "V378I (n=1)", "R1926C (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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 9/255 patients (3.53%).", "Without the 8 hypermutated patients: 7/247 (2.83%).", "Largest alteration is amplification: 24/253 (9.49%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 9, "tested": 255, "frequency": 3.53, "frequency_excl_hypermutated": 2.83, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "255/255", "coverage_note": null, "source_id": "sarc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "sarcoma_mskcc_2022", "cohort_name": "Sarcoma (MSK, Nat Commun. 2022)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 31.63, "width": 1.0, "reference": 31.63, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 24, "tested": 253, "frequency": 9.49, "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": "MGAM", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 9, "tested": 255, "frequency": 3.53, "cohort_count": 1, "frequency_range": {"min": 3.53, "max": 3.53}, "major_variants": ["K475E (n=1)", "D311Y (n=1)", "T1204A (n=1)", "G1548V (n=1)", "P106L (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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 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"X3260_splice (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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 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"patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "DOCK2", "alteration_types": ["SNV / small indel", "amplification"], "altered": 9, "tested": 255, "frequency": 3.53, "cohort_count": 1, "frequency_range": {"min": 3.53, "max": 3.53}, "major_variants": ["T1504M (n=1)", "E821Sfs*9 (n=1)", "G1403V (n=1)", "V1262I (n=1)", "Y1029N (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": 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"is_demo": false}, {"source_name": "cBioPortal · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 9/255 patients (3.53%).", "Without the 8 hypermutated patients: 6/247 (2.43%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 9, "tested": 255, "frequency": 3.53, "frequency_excl_hypermutated": 2.43, "counting_unit": 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"patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "DCHS2", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 9, "tested": 255, "frequency": 3.53, "cohort_count": 1, "frequency_range": {"min": 3.53, "max": 3.53}, "major_variants": ["D1143N (n=1)", "P2002S (n=1)", "F634L (n=1)", "S95F (n=1)", "N1510S (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 · Sarcoma (TCGA, 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false, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.77, "width": 1.0, "reference": 11.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 9, "tested": 255, "frequency": 3.53, "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": "WDR87", "alteration_types": ["SNV / small indel", "amplification"], "altered": 8, "tested": 255, "frequency": 3.14, "cohort_count": 1, "frequency_range": {"min": 3.14, "max": 3.14}, "major_variants": ["R1098W (n=1)", "E1656K (n=1)", "L861F (n=1)", "M1357L (n=1)", "E2030K (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently 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"frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "UNC80", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 8, "tested": 255, "frequency": 3.14, "cohort_count": 1, "frequency_range": {"min": 3.14, "max": 3.14}, "major_variants": ["V189M (n=1)", "S1489I (n=1)", "A2988S (n=1)", "K1671E (n=1)", "T399A (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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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}], 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"coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.47, "width": 1.0, "reference": 10.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 8, "tested": 255, "frequency": 3.14, "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": "UNC13C", "alteration_types": ["SNV / small indel", "amplification"], "altered": 8, "tested": 255, "frequency": 3.14, "cohort_count": 1, "frequency_range": {"min": 3.14, "max": 3.14}, "major_variants": ["T1107I (n=1)", "K345E (n=1)", "E1349* (n=1)", "L1568V (n=1)", "Q2045* (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference 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"source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 8/255 patients (3.14%).", "Without the 8 hypermutated patients: 7/247 (2.83%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 8, "tested": 255, "frequency": 3.14, "frequency_excl_hypermutated": 2.83, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": 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"https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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}], 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"coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.47, "width": 1.0, "reference": 10.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 8, "tested": 255, "frequency": 3.14, "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": "TMEM132C", "alteration_types": ["SNV / small indel", "amplification"], "altered": 8, "tested": 255, "frequency": 3.14, "cohort_count": 1, "frequency_range": {"min": 3.14, "max": 3.14}, "major_variants": ["A443T (n=1)", "T86I (n=1)", "M385I (n=1)", "E910K (n=1)", "R703W (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference 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"https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 8/255 patients (3.14%).", "Without the 8 hypermutated patients: 3/247 (1.21%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 8, "tested": 255, "frequency": 3.14, "frequency_excl_hypermutated": 1.21, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "255/255", "coverage_note": null, "source_id": "sarc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "sarcoma_mskcc_2022", "cohort_name": "Sarcoma (MSK, Nat Commun. 2022)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.47, "width": 1.0, "reference": 10.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 8, "tested": 255, "frequency": 3.14, "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": "PKHD1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 8, "tested": 255, "frequency": 3.14, "cohort_count": 1, "frequency_range": {"min": 3.14, "max": 3.14}, "major_variants": ["N2300S (n=1)", "R3620C (n=1)", "I1192F (n=1)", "V2429I (n=1)", "P3221L (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference 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"source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 8/255 patients (3.14%).", "Without the 8 hypermutated patients: 8/247 (3.24%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 8, "tested": 255, "frequency": 3.14, "frequency_excl_hypermutated": 3.24, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": 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"cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PEG3", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 8, "tested": 255, "frequency": 3.14, "cohort_count": 1, "frequency_range": {"min": 3.14, "max": 3.14}, "major_variants": ["R148I (n=1)", "L254M (n=1)", "K66E (n=1)", "P4L (n=1)", "V951L (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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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}], 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"coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.47, "width": 1.0, "reference": 10.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 8, "tested": 255, "frequency": 3.14, "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": "NRXN1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 8, "tested": 255, "frequency": 3.14, "cohort_count": 1, "frequency_range": {"min": 3.14, "max": 3.14}, "major_variants": ["R121H (n=1)", "P619T (n=1)", "L1352F (n=1)", "L296W (n=1)", "H526P (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the 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"https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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}], 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"coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.47, "width": 1.0, "reference": 10.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 8, "tested": 255, "frequency": 3.14, "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": "MAP1A", "alteration_types": ["SNV / small indel"], "altered": 8, "tested": 255, "frequency": 3.14, "cohort_count": 1, "frequency_range": {"min": 3.14, "max": 3.14}, "major_variants": ["A640V (n=1)", "E439D (n=1)", "S1749I (n=1)", "R1657I (n=1)", "L2247Q (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", 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true, "coverage": "255/255", "coverage_note": null, "source_id": "sarc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "sarcoma_mskcc_2022", "cohort_name": "Sarcoma (MSK, Nat Commun. 2022)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.47, "width": 1.0, "reference": 10.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 8, "tested": 255, "frequency": 3.14, "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": "LRP1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 8, "tested": 255, "frequency": 3.14, "cohort_count": 1, "frequency_range": {"min": 3.14, "max": 3.14}, "major_variants": ["D1464Y (n=1)", "S1290I (n=1)", "I2618M (n=1)", "W3351* (n=1)", "D2819N (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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 8/255 patients (3.14%).", "Without the 8 hypermutated patients: 6/247 (2.43%).", "Largest alteration is amplification: 11/253 (4.35%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 8, "tested": 255, "frequency": 3.14, "frequency_excl_hypermutated": 2.43, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "255/255", "coverage_note": null, "source_id": "sarc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "sarcoma_mskcc_2022", "cohort_name": "Sarcoma (MSK, Nat Commun. 2022)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 14.5, "width": 1.0, "reference": 14.5, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 11, "tested": 253, "frequency": 4.35, "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": "KIAA1549", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 8, "tested": 255, "frequency": 3.14, "cohort_count": 1, "frequency_range": {"min": 3.14, "max": 3.14}, "major_variants": ["V1007I (n=1)", "A732V (n=1)", "X1410_splice (n=1)", "V595F (n=1)", "E882K (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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 8/255 patients (3.14%).", "Without the 8 hypermutated patients: 6/247 (2.43%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 8, "tested": 255, "frequency": 3.14, 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"patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "KCNH8", "alteration_types": ["SNV / small indel", "amplification"], "altered": 8, "tested": 255, "frequency": 3.14, "cohort_count": 1, "frequency_range": {"min": 3.14, "max": 3.14}, "major_variants": ["A587V (n=1)", "D992H (n=1)", "M603I (n=1)", "R835Q (n=1)", "A555S (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 · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: 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"is_demo": false}, {"source_name": "cBioPortal · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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: Sarcoma (TCGA, PanCancer Atlas), 8/255 patients (3.14%).", "Without the 8 hypermutated patients: 5/247 (2.02%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "cohort_name": "Sarcoma (TCGA, PanCancer Atlas)", "altered": 8, "tested": 255, "frequency": 3.14, "frequency_excl_hypermutated": 2.02, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "255/255", "coverage_note": null, "source_id": "sarc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "sarcoma_mskcc_2022", "cohort_name": "Sarcoma (MSK, Nat Commun. 2022)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "2138/2138", "coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.47, "width": 1.0, "reference": 10.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 8, "tested": 255, "frequency": 3.14, "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": "FAT1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 8, "tested": 255, "frequency": 3.14, "cohort_count": 2, "frequency_range": {"min": 1.82, "max": 3.14}, "major_variants": ["E2498V (n=1)", "E2705* (n=1)", "D177N (n=1)", "L3599V (n=1)", "Q3572* (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 · Sarcoma (TCGA, 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"coverage_note": null, "source_id": "sarcoma_mskcc_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 6.07, "width": 4.4, "reference": 10.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 8, "tested": 255, "frequency": 3.14, "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": "MDM2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "MDM2 amplification", "genomic_coordinate": null, "observed": 47, "observed_status": "observed", "observed_unit": "patients", "tested": 253, "tested_status": "observed", "tested_unit": 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253, "tested_status": "observed", "tested_unit": "patients", "frequency": 10.67, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["sarc_tcga_pan_can_atlas_2018"], "source_ids": ["sarc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"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": 25, "observed_status": "observed", "observed_unit": "patients", "tested": 253, "tested_status": "observed", "tested_unit": "patients", "frequency": 9.88, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["sarc_tcga_pan_can_atlas_2018"], "source_ids": ["sarc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "MYO15A", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "MYO15A amplification", "genomic_coordinate": null, "observed": 24, "observed_status": "observed", "observed_unit": "patients", "tested": 253, "tested_status": "observed", "tested_unit": "patients", "frequency": 9.49, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["sarc_tcga_pan_can_atlas_2018"], "source_ids": ["sarc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "RB1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "RB1 deep deletion", "genomic_coordinate": null, "observed": 153, "observed_status": "observed", "observed_unit": "patients", "tested": 2138, "tested_status": "observed", "tested_unit": "patients", "frequency": 7.16, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["sarcoma_mskcc_2022"], "source_ids": ["sarcoma_mskcc_2022_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "ATRX", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "ATRX deep deletion", "genomic_coordinate": null, "observed": 17, "observed_status": "observed", "observed_unit": "patients", "tested": 253, "tested_status": "observed", "tested_unit": "patients", "frequency": 6.72, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["sarc_tcga_pan_can_atlas_2018"], "source_ids": ["sarc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"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": 112, "observed_status": "observed", "observed_unit": "patients", "tested": 2138, "tested_status": "observed", "tested_unit": "patients", "frequency": 5.24, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["sarcoma_mskcc_2022"], "source_ids": ["sarcoma_mskcc_2022_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "TERT", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "TERT amplification", "genomic_coordinate": null, "observed": 12, "observed_status": "observed", "observed_unit": "patients", "tested": 253, "tested_status": "observed", "tested_unit": "patients", "frequency": 4.74, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["sarc_tcga_pan_can_atlas_2018"], "source_ids": ["sarc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "NTRK1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "NTRK1 amplification", "genomic_coordinate": null, "observed": 11, "observed_status": "observed", "observed_unit": "patients", "tested": 253, "tested_status": "observed", "tested_unit": "patients", "frequency": 4.35, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["sarc_tcga_pan_can_atlas_2018"], "source_ids": ["sarc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "SPHKAP", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "SPHKAP deep deletion", "genomic_coordinate": null, "observed": 11, "observed_status": "observed", "observed_unit": "patients", "tested": 253, "tested_status": "observed", "tested_unit": "patients", "frequency": 4.35, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["sarc_tcga_pan_can_atlas_2018"], "source_ids": ["sarc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "LRP1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "LRP1 amplification", "genomic_coordinate": null, "observed": 11, "observed_status": "observed", "observed_unit": "patients", "tested": 253, "tested_status": "observed", "tested_unit": "patients", "frequency": 4.35, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["sarc_tcga_pan_can_atlas_2018"], "source_ids": ["sarc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "NF1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "NF1 deep deletion", "genomic_coordinate": null, "observed": 10, "observed_status": "observed", "observed_unit": "patients", "tested": 253, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.95, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["sarc_tcga_pan_can_atlas_2018"], "source_ids": ["sarc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "FCGBP", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "FCGBP amplification", "genomic_coordinate": null, "observed": 10, "observed_status": "observed", "observed_unit": "patients", "tested": 253, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.95, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["sarc_tcga_pan_can_atlas_2018"], "source_ids": ["sarc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "SPTBN4", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "SPTBN4 amplification", "genomic_coordinate": null, "observed": 9, "observed_status": "observed", "observed_unit": "patients", "tested": 253, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.56, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["sarc_tcga_pan_can_atlas_2018"], "source_ids": ["sarc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "TERT", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "TERT amplification", "genomic_coordinate": null, "observed": 75, "observed_status": "observed", "observed_unit": "patients", "tested": 2138, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.51, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["sarcoma_mskcc_2022"], "source_ids": ["sarcoma_mskcc_2022_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "PDGFRA", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "PDGFRA amplification", "genomic_coordinate": null, "observed": 8, "observed_status": "observed", "observed_unit": "patients", "tested": 253, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.16, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["sarc_tcga_pan_can_atlas_2018"], "source_ids": ["sarc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "TNRC18", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "TNRC18 amplification", "genomic_coordinate": null, "observed": 7, "observed_status": "observed", "observed_unit": "patients", "tested": 253, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.77, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["sarc_tcga_pan_can_atlas_2018"], "source_ids": ["sarc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "FAT1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "FAT1 deep deletion", "genomic_coordinate": null, "observed": 7, "observed_status": "observed", "observed_unit": "patients", "tested": 253, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.77, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["sarc_tcga_pan_can_atlas_2018"], "source_ids": ["sarc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "FREM2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "FREM2 deep deletion", "genomic_coordinate": null, "observed": 6, "observed_status": "observed", "observed_unit": "patients", "tested": 253, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.37, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["sarc_tcga_pan_can_atlas_2018"], "source_ids": ["sarc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "TRPM6", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "TRPM6 amplification", "genomic_coordinate": null, "observed": 6, "observed_status": "observed", "observed_unit": "patients", "tested": 253, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.37, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["sarc_tcga_pan_can_atlas_2018"], "source_ids": ["sarc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "DOCK2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "DOCK2 amplification", "genomic_coordinate": null, "observed": 6, "observed_status": "observed", "observed_unit": "patients", "tested": 253, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.37, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["sarc_tcga_pan_can_atlas_2018"], "source_ids": ["sarc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "DISP3", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "DISP3 amplification", "genomic_coordinate": null, "observed": 6, "observed_status": "observed", "observed_unit": "patients", "tested": 253, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.37, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["sarc_tcga_pan_can_atlas_2018"], "source_ids": ["sarc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "TMEM132C", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "TMEM132C amplification", "genomic_coordinate": null, "observed": 6, "observed_status": "observed", "observed_unit": "patients", "tested": 253, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.37, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["sarc_tcga_pan_can_atlas_2018"], "source_ids": ["sarc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "PKHD1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "PKHD1 amplification", "genomic_coordinate": null, "observed": 6, "observed_status": "observed", "observed_unit": "patients", "tested": 253, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.37, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["sarc_tcga_pan_can_atlas_2018"], "source_ids": ["sarc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "PDGFRA", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "PDGFRA amplification", "genomic_coordinate": null, "observed": 44, "observed_status": "observed", "observed_unit": "patients", "tested": 2138, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.06, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["sarcoma_mskcc_2022"], "source_ids": ["sarcoma_mskcc_2022_cna"], "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": "Sarcoma (TCGA, PanCancer Atlas)", "source": "cBioPortal", "accession": "sarc_tcga_pan_can_atlas_2018", "patients": {"value": 255, "status": "observed", "unit": "patients"}, "samples": {"value": 255, "status": "observed", "unit": "samples"}, "disease_subtype": "Sarcoma (TCGA, PanCancer Atlas)", "assay_type": "exome or genome", "sequencing_method": "WES (255)", "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": "sarc_tcga_pan_can_atlas_2018", "is_demo": false, "assay_coverage": {"patients_with_calls": 255, "patients_in_roster": 255, "frequencies_computed": true, "samples_sequenced": 255, "samples_in_study": 255, "hypermutated_patients": 8, "median_mutations_per_sample": 38, "reason": null}}, {"name": "Sarcoma (MSK, Nat Commun. 2022)", "source": "cBioPortal", "accession": "sarcoma_mskcc_2022", "patients": {"value": 2138, "status": "observed", "unit": "patients"}, "samples": {"value": 2138, "status": "observed", "unit": "samples"}, "disease_subtype": "Sarcoma (MSK, Nat Commun. 2022)", "assay_type": "targeted panel", "sequencing_method": "IMPACT468 (1356), IMPACT410 (573), IMPACT341 (209)", "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": "sarcoma_mskcc_2022", "is_demo": false, "assay_coverage": {"patients_with_calls": 2138, "patients_in_roster": 2138, "frequencies_computed": true, "samples_sequenced": 2138, "samples_in_study": 2138, "hypermutated_patients": 1, "median_mutations_per_sample": 1.0, "reason": null}}], "sources": [{"source_name": "cBioPortal · Sarcoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=sarc_tcga_pan_can_atlas_2018", "source_record_id": "sarc_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 · Sarcoma (MSK, Nat Commun. 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=sarcoma_mskcc_2022", "source_record_id": "sarcoma_mskcc_2022", "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 Sarcoma (TCGA, PanCancer Atlas) (255 sequenced patients, exome or genome), the most frequently altered of the 49 genes shown are TP53 33.33%, MDM2 18.58% (amplification), CDK4 17.39% (amplification), RB1 14.62% (deep deletion), ATRX 14.12%. Each figure divides by the patients on whom that gene could be called.", "8 of 255 patients are hypermutated (more than 380 non-silent mutations, ten times the cohort median of 38); every gene's frequency without them is beside the headline.", "Of the briefing's 12 curated targets, 4 are altered in under 2% of this cohort (ALK, PDGFRB, SS18, CTAG1B): 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": "TP53 is mutated in 85 of 255 patients in Sarcoma (TCGA, PanCancer Atlas).", "numerator": 85, "denominator": 255, "frequency": 33.33, "cohorts": 2, "evidence_confidence": "moderate", "source": "sarc_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-18"}, {"finding": "MDM2 is amplified in 47 of 253 patients in Sarcoma (TCGA, PanCancer Atlas).", "numerator": 47, "denominator": 253, "frequency": 18.58, "cohorts": 2, "evidence_confidence": "moderate", "source": "sarc_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-18"}, {"finding": "CDK4 is amplified in 44 of 253 patients in Sarcoma (TCGA, PanCancer Atlas).", "numerator": 44, "denominator": 253, "frequency": 17.39, "cohorts": 2, "evidence_confidence": "moderate", "source": "sarc_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": "sarc_tcga_pan_can_atlas_2018", "region_events": [], "matrix": [{"label": "TP53", "kind": "SNV / small indel", "gene": "TP53", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 33.33, "altered": 85, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "observed", "frequency": 18.57, "altered": 397, "tested": 2138, "note": null}]}, {"label": "TP53", "kind": "deep deletion", "gene": "TP53", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.88, "altered": 25, "tested": 253, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "sarcoma_mskcc_2022", "status": "observed", "frequency": 5.24, "altered": 112, "tested": 2138, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "MDM2", "kind": "SNV / small indel", "gene": "MDM2", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 1.96, "altered": 5, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "observed", "frequency": 0.28, "altered": 6, "tested": 2138, "note": null}]}, {"label": "MDM2", "kind": "amplification", "gene": "MDM2", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 18.58, "altered": 47, "tested": 253, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "sarcoma_mskcc_2022", "status": "observed", "frequency": 12.16, "altered": 260, "tested": 2138, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "CDK4", "kind": "SNV / small indel", "gene": "CDK4", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.39, "altered": 1, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "observed", "frequency": 0.23, "altered": 5, "tested": 2138, "note": null}]}, {"label": "CDK4", "kind": "amplification", "gene": "CDK4", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 17.39, "altered": 44, "tested": 253, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "sarcoma_mskcc_2022", "status": "observed", "frequency": 11.51, "altered": 246, "tested": 2138, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "RB1", "kind": "SNV / small indel", "gene": "RB1", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.8, "altered": 25, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "observed", "frequency": 4.63, "altered": 99, "tested": 2138, "note": null}]}, {"label": "RB1", "kind": "deep deletion", "gene": "RB1", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 14.62, "altered": 37, "tested": 253, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "sarcoma_mskcc_2022", "status": "observed", "frequency": 7.16, "altered": 153, "tested": 2138, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "PDGFRA", "kind": "SNV / small indel", "gene": "PDGFRA", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.39, "altered": 1, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "observed", "frequency": 2.06, "altered": 44, "tested": 2138, "note": null}]}, {"label": "PDGFRA", "kind": "amplification", "gene": "PDGFRA", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.16, "altered": 8, "tested": 253, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "sarcoma_mskcc_2022", "status": "observed", "frequency": 2.06, "altered": 44, "tested": 2138, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "NTRK1", "kind": "SNV / small indel", "gene": "NTRK1", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 1.18, "altered": 3, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "observed", "frequency": 0.47, "altered": 10, "tested": 2138, "note": null}]}, {"label": "NTRK1", "kind": "amplification", "gene": "NTRK1", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.35, "altered": 11, "tested": 253, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "sarcoma_mskcc_2022", "status": "observed", "frequency": 1.5, "altered": 32, "tested": 2138, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "ALK", "kind": "SNV / small indel", "gene": "ALK", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 1.18, "altered": 3, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "observed", "frequency": 0.7, "altered": 15, "tested": 2138, "note": null}]}, {"label": "PDGFRB", "kind": "SNV / small indel", "gene": "PDGFRB", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 1.18, "altered": 3, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "observed", "frequency": 0.8, "altered": 17, "tested": 2138, "note": null}]}, {"label": "NF1", "kind": "SNV / small indel", "gene": "NF1", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.92, "altered": 10, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "observed", "frequency": 3.04, "altered": 65, "tested": 2138, "note": null}]}, {"label": "NF1", "kind": "deep deletion", "gene": "NF1", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.95, "altered": 10, "tested": 253, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "sarcoma_mskcc_2022", "status": "observed", "frequency": 1.22, "altered": 26, "tested": 2138, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "SS18", "kind": "SNV / small indel", "gene": "SS18", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "TERT", "kind": "SNV / small indel", "gene": "TERT", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 1.57, "altered": 4, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "observed", "frequency": 0.56, "altered": 12, "tested": 2138, "note": null}]}, {"label": "TERT", "kind": "amplification", "gene": "TERT", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.74, "altered": 12, "tested": 253, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "sarcoma_mskcc_2022", "status": "observed", "frequency": 3.51, "altered": 75, "tested": 2138, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "CTAG1B", "kind": "SNV / small indel", "gene": "CTAG1B", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "ATRX", "kind": "SNV / small indel", "gene": "ATRX", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 14.12, "altered": 36, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "observed", "frequency": 6.83, "altered": 146, "tested": 2138, "note": null}]}, {"label": "ATRX", "kind": "deep deletion", "gene": "ATRX", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.72, "altered": 17, "tested": 253, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "sarcoma_mskcc_2022", "status": "observed", "frequency": 1.82, "altered": 39, "tested": 2138, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "SCN2A", "kind": "SNV / small indel", "gene": "SCN2A", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.1, "altered": 13, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "FCGBP", "kind": "SNV / small indel", "gene": "FCGBP", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.31, "altered": 11, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "FCGBP", "kind": "amplification", "gene": "FCGBP", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.95, "altered": 10, "tested": 253, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "sarcoma_mskcc_2022", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 2138, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "SPHKAP", "kind": "SNV / small indel", "gene": "SPHKAP", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.92, "altered": 10, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "SPHKAP", "kind": "deep deletion", "gene": "SPHKAP", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.35, "altered": 11, "tested": 253, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "sarcoma_mskcc_2022", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 2138, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "PRKDC", "kind": "SNV / small indel", "gene": "PRKDC", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.92, "altered": 10, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "NAV3", "kind": "SNV / small indel", "gene": "NAV3", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.92, "altered": 10, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "NAV3", "kind": "amplification", "gene": "NAV3", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 10.67, "altered": 27, "tested": 253, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "sarcoma_mskcc_2022", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 2138, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "FREM2", "kind": "SNV / small indel", "gene": "FREM2", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.92, "altered": 10, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "FREM2", "kind": "deep deletion", "gene": "FREM2", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.37, "altered": 6, "tested": 253, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "sarcoma_mskcc_2022", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 2138, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "DOCK3", "kind": "SNV / small indel", "gene": "DOCK3", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.92, "altered": 10, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "CFAP54", "kind": "SNV / small indel", "gene": "CFAP54", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.92, "altered": 10, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "ZAN", "kind": "SNV / small indel", "gene": "ZAN", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.53, "altered": 9, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "TRPM6", "kind": "SNV / small indel", "gene": "TRPM6", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.53, "altered": 9, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "TRPM6", "kind": "amplification", "gene": "TRPM6", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.37, "altered": 6, "tested": 253, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "sarcoma_mskcc_2022", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 2138, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "SPTBN4", "kind": "SNV / small indel", "gene": "SPTBN4", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.53, "altered": 9, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "SPTBN4", "kind": "amplification", "gene": "SPTBN4", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.56, "altered": 9, "tested": 253, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "sarcoma_mskcc_2022", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 2138, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "MYO15A", "kind": "SNV / small indel", "gene": "MYO15A", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.53, "altered": 9, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "MYO15A", "kind": "amplification", "gene": "MYO15A", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.49, "altered": 24, "tested": 253, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "sarcoma_mskcc_2022", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 2138, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "MGAM", "kind": "SNV / small indel", "gene": "MGAM", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.53, "altered": 9, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "KMT2D", "kind": "SNV / small indel", "gene": "KMT2D", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.53, "altered": 9, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "observed", "frequency": 2.53, "altered": 54, "tested": 2138, "note": null}]}, {"label": "FRAS1", "kind": "SNV / small indel", "gene": "FRAS1", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.53, "altered": 9, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "DOCK2", "kind": "SNV / small indel", "gene": "DOCK2", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.53, "altered": 9, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "DOCK2", "kind": "amplification", "gene": "DOCK2", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.37, "altered": 6, "tested": 253, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "sarcoma_mskcc_2022", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 2138, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "DISP3", "kind": "SNV / small indel", "gene": "DISP3", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.53, "altered": 9, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "DISP3", "kind": "amplification", "gene": "DISP3", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.37, "altered": 6, "tested": 253, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "sarcoma_mskcc_2022", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 2138, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "DCHS2", "kind": "SNV / small indel", "gene": "DCHS2", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.53, "altered": 9, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "WDR87", "kind": "SNV / small indel", "gene": "WDR87", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.14, "altered": 8, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "UNC80", "kind": "SNV / small indel", "gene": "UNC80", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.14, "altered": 8, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "UNC13C", "kind": "SNV / small indel", "gene": "UNC13C", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.14, "altered": 8, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "TNRC18", "kind": "SNV / small indel", "gene": "TNRC18", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.14, "altered": 8, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "TNRC18", "kind": "amplification", "gene": "TNRC18", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.77, "altered": 7, "tested": 253, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "sarcoma_mskcc_2022", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 2138, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "TMEM132C", "kind": "SNV / small indel", "gene": "TMEM132C", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.14, "altered": 8, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "TMEM132C", "kind": "amplification", "gene": "TMEM132C", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.37, "altered": 6, "tested": 253, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "sarcoma_mskcc_2022", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 2138, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "SHANK2", "kind": "SNV / small indel", "gene": "SHANK2", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.14, "altered": 8, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "SCN9A", "kind": "SNV / small indel", "gene": "SCN9A", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.14, "altered": 8, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "RELN", "kind": "SNV / small indel", "gene": "RELN", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.14, "altered": 8, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "PKHD1", "kind": "SNV / small indel", "gene": "PKHD1", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.14, "altered": 8, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "PKHD1", "kind": "amplification", "gene": "PKHD1", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.37, "altered": 6, "tested": 253, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "sarcoma_mskcc_2022", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 2138, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "PEG3", "kind": "SNV / small indel", "gene": "PEG3", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.14, "altered": 8, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "NRXN1", "kind": "SNV / small indel", "gene": "NRXN1", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.14, "altered": 8, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "MYH7", "kind": "SNV / small indel", "gene": "MYH7", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.14, "altered": 8, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "MAP1A", "kind": "SNV / small indel", "gene": "MAP1A", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.14, "altered": 8, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "LRP1", "kind": "SNV / small indel", "gene": "LRP1", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.14, "altered": 8, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "LRP1", "kind": "amplification", "gene": "LRP1", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.35, "altered": 11, "tested": 253, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "sarcoma_mskcc_2022", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 2138, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "KIAA1549", "kind": "SNV / small indel", "gene": "KIAA1549", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.14, "altered": 8, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "KCNH8", "kind": "SNV / small indel", "gene": "KCNH8", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.14, "altered": 8, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "KALRN", "kind": "SNV / small indel", "gene": "KALRN", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.14, "altered": 8, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "FAT1", "kind": "SNV / small indel", "gene": "FAT1", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.14, "altered": 8, "tested": 255, "note": null}, {"cohort": "sarcoma_mskcc_2022", "status": "observed", "frequency": 1.82, "altered": 39, "tested": 2138, "note": null}]}, {"label": "FAT1", "kind": "deep deletion", "gene": "FAT1", "cells": [{"cohort": "sarc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.77, "altered": 7, "tested": 253, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "sarcoma_mskcc_2022", "status": "observed", "frequency": 0.75, "altered": 16, "tested": 2138, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}]}