{"disease": {"name": "Diffuse large B-cell lymphoma", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "dlbclnos"}, "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": "MS4A1", "alteration_types": [], "altered": 0, "tested": 1001, "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; 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not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Diffuse Large B-Cell Lymphoma (Duke, Cell 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=dlbcl_duke_2017", "source_record_id": "dlbcl_duke_2017", "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 · Diffuse Large B cell Lymphoma (DFCI, Nat Med 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=dlbcl_dfci_2018", "source_record_id": "dlbcl_dfci_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}], "derived_insights": ["Reference cohort: Diffuse Large B-Cell Lymphoma (Duke, Cell 2017), 105/1001 patients (10.49%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "dlbcl_duke_2017", "cohort_name": "Diffuse Large B-Cell Lymphoma (Duke, Cell 2017)", "altered": 105, "tested": 1001, "frequency": 10.49, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1001/1001", "coverage_note": null, "source_id": "dlbcl_duke_2017", "is_reference": true}, {"cohort": "dlbcl_dfci_2018", "cohort_name": "Diffuse Large B cell Lymphoma (DFCI, Nat Med 2018)", "altered": 14, "tested": 135, "frequency": 10.37, "frequency_excl_hypermutated": 10.45, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "135/135", "coverage_note": null, "source_id": "dlbcl_dfci_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 34.57, "width": 1.0, "reference": 34.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 105, "tested": 1001, "frequency": 10.49, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "SPEN", "alteration_types": ["SNV / small indel"], "altered": 101, "tested": 1001, "frequency": 10.09, "cohort_count": 2, "frequency_range": {"min": 4.44, "max": 10.09}, "major_variants": ["R243Q (n=5)", "G3378S (n=5)", "R637* (n=4)", "R2081* (n=4)", "G3375S (n=3)"], "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 · Diffuse Large B-Cell Lymphoma (Duke, Cell 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=dlbcl_duke_2017", "source_record_id": "dlbcl_duke_2017", "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 · Diffuse Large B cell Lymphoma (DFCI, Nat Med 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=dlbcl_dfci_2018", "source_record_id": "dlbcl_dfci_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}], "derived_insights": ["Reference cohort: Diffuse Large B-Cell Lymphoma (Duke, Cell 2017), 101/1001 patients (10.09%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "dlbcl_duke_2017", "cohort_name": "Diffuse Large B-Cell Lymphoma (Duke, Cell 2017)", "altered": 101, "tested": 1001, "frequency": 10.09, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1001/1001", "coverage_note": null, "source_id": "dlbcl_duke_2017", "is_reference": true}, {"cohort": "dlbcl_dfci_2018", "cohort_name": "Diffuse Large B cell Lymphoma (DFCI, Nat Med 2018)", "altered": 6, "tested": 135, "frequency": 4.44, "frequency_excl_hypermutated": 4.48, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "135/135", "coverage_note": null, "source_id": "dlbcl_dfci_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 14.8, "width": 18.83, "reference": 33.63, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 101, "tested": 1001, "frequency": 10.09, "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": "ARID1A", "alteration_types": ["SNV / small indel"], "altered": 96, "tested": 1001, "frequency": 9.59, "cohort_count": 2, "frequency_range": {"min": 2.96, "max": 9.59}, "major_variants": ["G85D (n=5)", "R1721* (n=4)", "S357N (n=3)", "V5I (n=3)", "R693* (n=3)"], "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 · Diffuse Large B-Cell Lymphoma (Duke, Cell 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=dlbcl_duke_2017", "source_record_id": "dlbcl_duke_2017", "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 · Diffuse Large B cell Lymphoma (DFCI, Nat Med 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=dlbcl_dfci_2018", "source_record_id": "dlbcl_dfci_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; 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not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Diffuse Large B-Cell Lymphoma (Duke, Cell 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=dlbcl_duke_2017", "source_record_id": "dlbcl_duke_2017", "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 · Diffuse Large B cell Lymphoma (DFCI, Nat Med 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=dlbcl_dfci_2018", "source_record_id": "dlbcl_dfci_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; 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(n=4)", "P146L (n=4)", "C127R (n=3)", "N173S (n=3)"], "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 · Diffuse Large B-Cell Lymphoma (Duke, Cell 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=dlbcl_duke_2017", "source_record_id": "dlbcl_duke_2017", "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; 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not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Diffuse Large B-Cell Lymphoma (Duke, Cell 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=dlbcl_duke_2017", "source_record_id": "dlbcl_duke_2017", "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 · Diffuse Large B cell Lymphoma (DFCI, Nat Med 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=dlbcl_dfci_2018", "source_record_id": "dlbcl_dfci_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}], "derived_insights": ["Reference cohort: Diffuse Large B-Cell Lymphoma (Duke, Cell 2017), 53/1001 patients (5.29%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "dlbcl_duke_2017", "cohort_name": "Diffuse Large B-Cell Lymphoma (Duke, Cell 2017)", "altered": 53, "tested": 1001, "frequency": 5.29, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1001/1001", "coverage_note": null, "source_id": "dlbcl_duke_2017", "is_reference": true}, {"cohort": "dlbcl_dfci_2018", "cohort_name": "Diffuse Large B cell Lymphoma (DFCI, Nat Med 2018)", "altered": 2, "tested": 135, "frequency": 1.48, "frequency_excl_hypermutated": 1.49, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "135/135", "coverage_note": null, "source_id": "dlbcl_dfci_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.93, "width": 12.7, "reference": 17.63, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 53, "tested": 1001, "frequency": 5.29, "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": "KLHL14", "alteration_types": ["SNV / small indel"], "altered": 52, "tested": 1001, "frequency": 5.19, "cohort_count": 2, "frequency_range": {"min": 5.19, "max": 5.19}, "major_variants": ["W245* (n=6)", "L139F (n=5)", "R560* (n=3)", "L177F (n=2)", "S242P (n=2)"], "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 · Diffuse Large B-Cell Lymphoma (Duke, Cell 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=dlbcl_duke_2017", "source_record_id": "dlbcl_duke_2017", "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 · Diffuse Large B cell Lymphoma (DFCI, Nat Med 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=dlbcl_dfci_2018", "source_record_id": "dlbcl_dfci_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}], "derived_insights": ["Reference cohort: Diffuse Large B-Cell Lymphoma (Duke, Cell 2017), 52/1001 patients (5.19%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "dlbcl_duke_2017", "cohort_name": "Diffuse Large B-Cell Lymphoma (Duke, Cell 2017)", "altered": 52, "tested": 1001, "frequency": 5.19, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1001/1001", "coverage_note": null, "source_id": "dlbcl_duke_2017", "is_reference": true}, {"cohort": "dlbcl_dfci_2018", "cohort_name": "Diffuse Large B cell Lymphoma (DFCI, Nat Med 2018)", "altered": 7, "tested": 135, "frequency": 5.19, "frequency_excl_hypermutated": 5.22, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "135/135", "coverage_note": null, "source_id": "dlbcl_dfci_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 17.3, "width": 1.0, "reference": 17.3, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 52, "tested": 1001, "frequency": 5.19, "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": "CHD8", "alteration_types": ["SNV / small indel"], "altered": 50, "tested": 1001, "frequency": 5.0, "cohort_count": 2, "frequency_range": {"min": 4.44, "max": 5.0}, "major_variants": ["R1797Q (n=4)", "R912C (n=4)", "R1580Q (n=3)", "R938C (n=3)", "D1870N (n=3)"], "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 · Diffuse Large B-Cell Lymphoma (Duke, Cell 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=dlbcl_duke_2017", "source_record_id": "dlbcl_duke_2017", "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 · Diffuse Large B cell Lymphoma (DFCI, Nat Med 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=dlbcl_dfci_2018", "source_record_id": "dlbcl_dfci_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}], "derived_insights": ["Reference cohort: Diffuse Large B-Cell Lymphoma (Duke, Cell 2017), 50/1001 patients (5.0%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "dlbcl_duke_2017", "cohort_name": "Diffuse Large B-Cell Lymphoma (Duke, Cell 2017)", "altered": 50, "tested": 1001, "frequency": 5.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1001/1001", "coverage_note": null, "source_id": "dlbcl_duke_2017", "is_reference": true}, {"cohort": "dlbcl_dfci_2018", "cohort_name": "Diffuse Large B cell Lymphoma (DFCI, Nat Med 2018)", "altered": 6, "tested": 135, "frequency": 4.44, "frequency_excl_hypermutated": 3.73, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "135/135", "coverage_note": null, "source_id": "dlbcl_dfci_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 14.8, "width": 1.87, "reference": 16.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 50, "tested": 1001, "frequency": 5.0, "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": "INO80", "alteration_types": ["SNV / small indel"], "altered": 49, "tested": 1001, "frequency": 4.9, "cohort_count": 2, "frequency_range": {"min": 2.22, "max": 4.9}, "major_variants": ["R1212C (n=5)", "R1281W (n=4)", "R1212H (n=3)", "R1112W (n=3)", "A1461T (n=3)"], "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 · Diffuse Large B-Cell Lymphoma (Duke, Cell 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=dlbcl_duke_2017", "source_record_id": "dlbcl_duke_2017", "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 · Diffuse Large B cell Lymphoma (DFCI, Nat Med 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=dlbcl_dfci_2018", "source_record_id": "dlbcl_dfci_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}], "derived_insights": ["Reference cohort: Diffuse Large B-Cell Lymphoma (Duke, Cell 2017), 49/1001 patients (4.9%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "dlbcl_duke_2017", "cohort_name": "Diffuse Large B-Cell Lymphoma (Duke, Cell 2017)", "altered": 49, "tested": 1001, "frequency": 4.9, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1001/1001", "coverage_note": null, "source_id": "dlbcl_duke_2017", "is_reference": true}, {"cohort": "dlbcl_dfci_2018", "cohort_name": "Diffuse Large B cell Lymphoma (DFCI, Nat Med 2018)", "altered": 3, "tested": 135, "frequency": 2.22, "frequency_excl_hypermutated": 2.24, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "135/135", "coverage_note": null, "source_id": "dlbcl_dfci_2018", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 7.4, "width": 8.93, "reference": 16.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 49, "tested": 1001, "frequency": 4.9, "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": [], "modality_summary": [{"modality": "SNV / small indel", "available_cohorts": 2, "total_cohorts": 2}, {"modality": "Copy number (discrete)", "available_cohorts": 0, "total_cohorts": 2}, {"modality": "Structural variant (present, not read)", "available_cohorts": 1, "total_cohorts": 2}], "chromosome_summary": [], "cohorts": [{"name": "Diffuse Large B-Cell Lymphoma (Duke, Cell 2017)", "source": "cBioPortal", "accession": "dlbcl_duke_2017", "patients": {"value": 1001, "status": "observed", "unit": "patients"}, "samples": {"value": 1001, "status": "observed", "unit": "samples"}, "disease_subtype": "Diffuse Large B-Cell Lymphoma (Duke, Cell 2017)", "assay_type": "exome or genome", "sequencing_method": "WES (1001)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel"], "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": "dlbcl_duke_2017", "is_demo": false, "assay_coverage": {"patients_with_calls": 1001, "patients_in_roster": 1001, "frequencies_computed": true, "samples_sequenced": 1001, "samples_in_study": 1001, "hypermutated_patients": 0, "median_mutations_per_sample": 6, "reason": null}}, {"name": "Diffuse Large B cell Lymphoma (DFCI, Nat Med 2018)", "source": "cBioPortal", "accession": "dlbcl_dfci_2018", "patients": {"value": 135, "status": "observed", "unit": "patients"}, "samples": {"value": 135, "status": "observed", "unit": "samples"}, "disease_subtype": "Diffuse Large B cell Lymphoma (DFCI, Nat Med 2018)", "assay_type": "exome or genome", "sequencing_method": "WES (135)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "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": "dlbcl_dfci_2018", "is_demo": false, "assay_coverage": {"patients_with_calls": 135, "patients_in_roster": 135, "frequencies_computed": true, "samples_sequenced": 135, "samples_in_study": 135, "hypermutated_patients": 1, "median_mutations_per_sample": 72, "reason": null}}], "sources": [{"source_name": "cBioPortal · Diffuse Large B-Cell Lymphoma (Duke, Cell 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=dlbcl_duke_2017", "source_record_id": "dlbcl_duke_2017", "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 · Diffuse Large B cell Lymphoma (DFCI, Nat Med 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=dlbcl_dfci_2018", "source_record_id": "dlbcl_dfci_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}], "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 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) (1001 sequenced patients, exome or genome), the most frequently altered of the 46 genes shown are KMT2D 24.68%, MYD88 17.18%, PIM1 14.59%, CREBBP 11.49%, H1-4 10.49%. Each figure divides by the patients on whom that gene could be called.", "Of the briefing's 12 curated targets, 2 are altered in under 2% of this cohort (MS4A1, CD19): 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": "KMT2D is mutated in 247 of 1001 patients in Diffuse Large B-Cell Lymphoma (Duke, Cell 2017).", "numerator": 247, "denominator": 1001, "frequency": 24.68, "cohorts": 2, "evidence_confidence": "moderate", "source": "dlbcl_duke_2017", "retrieved_at": "2026-09-18"}, {"finding": "MYD88 is mutated in 172 of 1001 patients in Diffuse Large B-Cell Lymphoma (Duke, Cell 2017).", "numerator": 172, "denominator": 1001, "frequency": 17.18, "cohorts": 2, "evidence_confidence": "moderate", "source": "dlbcl_duke_2017", "retrieved_at": "2026-09-18"}, {"finding": "PIM1 is mutated in 146 of 1001 patients in Diffuse Large B-Cell Lymphoma (Duke, Cell 2017).", "numerator": 146, "denominator": 1001, "frequency": 14.59, "cohorts": 2, "evidence_confidence": "moderate", "source": "dlbcl_duke_2017", "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": "dlbcl_duke_2017", "region_events": [], "matrix": [{"label": "MS4A1", "kind": "SNV / small indel", "gene": "MS4A1", "cells": [{"cohort": "dlbcl_duke_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 1001, "note": null}, {"cohort": "dlbcl_dfci_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 135, "note": null}]}, {"label": "CD19", "kind": "SNV / small indel", "gene": "CD19", "cells": [{"cohort": "dlbcl_duke_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 1001, "note": null}, {"cohort": "dlbcl_dfci_2018", "status": "observed", "frequency": 1.48, "altered": 2, "tested": 135, "note": null}]}, {"label": "CD79B", "kind": "SNV / small indel", "gene": "CD79B", "cells": [{"cohort": "dlbcl_duke_2017", "status": "observed", "frequency": 4.7, "altered": 47, "tested": 1001, "note": null}, {"cohort": "dlbcl_dfci_2018", "status": "observed", "frequency": 14.81, "altered": 20, "tested": 135, "note": null}]}, {"label": "BCL2", "kind": "SNV / small indel", "gene": "BCL2", "cells": [{"cohort": "dlbcl_duke_2017", "status": "observed", "frequency": 9.69, "altered": 97, "tested": 1001, "note": null}, {"cohort": "dlbcl_dfci_2018", "status": "observed", "frequency": 22.22, "altered": 30, "tested": 135, "note": null}]}, {"label": "BCL6", "kind": "SNV / small indel", "gene": "BCL6", "cells": [{"cohort": "dlbcl_duke_2017", "status": "observed", "frequency": 4.5, "altered": 45, "tested": 1001, "note": null}, {"cohort": "dlbcl_dfci_2018", "status": "observed", "frequency": 8.89, "altered": 12, "tested": 135, "note": null}]}, {"label": "MYC", "kind": "SNV / small indel", "gene": "MYC", "cells": [{"cohort": "dlbcl_duke_2017", "status": "observed", "frequency": 4.5, "altered": 45, "tested": 1001, "note": null}, {"cohort": "dlbcl_dfci_2018", "status": "observed", "frequency": 6.67, "altered": 9, "tested": 135, "note": null}]}, {"label": "EZH2", "kind": "SNV / small indel", "gene": "EZH2", "cells": [{"cohort": "dlbcl_duke_2017", "status": "observed", "frequency": 6.09, "altered": 61, "tested": 1001, "note": null}, {"cohort": "dlbcl_dfci_2018", "status": "observed", "frequency": 6.67, "altered": 9, "tested": 135, "note": null}]}, {"label": "MYD88", "kind": "SNV / small indel", "gene": "MYD88", "cells": [{"cohort": "dlbcl_duke_2017", "status": "observed", "frequency": 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