{"disease": {"name": "Myeloproliferative neoplasms", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "mpn"}, "updated_at": "2026-09-18", "genome_builds": ["hg19"], "cohort_count": 1, "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": "JAK2", "alteration_types": ["SNV / small indel"], "altered": 112, "tested": 151, "frequency": 74.17, "cohort_count": 1, "frequency_range": {"min": 74.17, "max": 74.17}, "major_variants": ["V617F (n=112)", "E543_D544del (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 · Myeloproliferative Neoplasms (CIMR, NEJM 2013)", "source_url": "https://www.cbioportal.org/study/summary?id=mpn_cimr_2013", "source_record_id": "mpn_cimr_2013", "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: Myeloproliferative Neoplasms (CIMR, NEJM 2013), 112/151 patients (74.17%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "mpn_cimr_2013", "cohort_name": "Myeloproliferative Neoplasms (CIMR, NEJM 2013)", "altered": 112, "tested": 151, "frequency": 74.17, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "mpn_cimr_2013", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 112, "tested": 151, "frequency": 74.17, "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": "CALR", "alteration_types": ["SNV / small indel"], "altered": 25, "tested": 151, "frequency": 16.56, "cohort_count": 1, "frequency_range": {"min": 16.56, "max": 16.56}, "major_variants": ["L367Tfs*46 (n=12)", "K385Nfs*47 (n=11)", "K368Rfs*51 (n=1)", "R366Kfs*53 (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 · Myeloproliferative Neoplasms (CIMR, NEJM 2013)", "source_url": "https://www.cbioportal.org/study/summary?id=mpn_cimr_2013", "source_record_id": "mpn_cimr_2013", "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: Myeloproliferative Neoplasms (CIMR, NEJM 2013), 25/151 patients (16.56%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "mpn_cimr_2013", "cohort_name": "Myeloproliferative Neoplasms (CIMR, NEJM 2013)", "altered": 25, "tested": 151, "frequency": 16.56, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "mpn_cimr_2013", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 55.2, "width": 1.0, "reference": 55.2, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 25, "tested": 151, "frequency": 16.56, "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": "MPL", "alteration_types": ["SNV / small indel"], "altered": 7, "tested": 151, "frequency": 4.64, "cohort_count": 1, "frequency_range": {"min": 4.64, "max": 4.64}, "major_variants": ["W515L (n=6)", "R592Q (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 · Myeloproliferative Neoplasms (CIMR, NEJM 2013)", "source_url": "https://www.cbioportal.org/study/summary?id=mpn_cimr_2013", "source_record_id": "mpn_cimr_2013", "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: Myeloproliferative Neoplasms (CIMR, NEJM 2013), 7/151 patients (4.64%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "mpn_cimr_2013", "cohort_name": "Myeloproliferative Neoplasms (CIMR, NEJM 2013)", "altered": 7, "tested": 151, "frequency": 4.64, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "mpn_cimr_2013", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 15.47, "width": 1.0, "reference": 15.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 7, "tested": 151, "frequency": 4.64, "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": "TET2", "alteration_types": ["SNV / small indel"], "altered": 21, "tested": 151, "frequency": 13.91, "cohort_count": 1, "frequency_range": {"min": 13.91, "max": 13.91}, "major_variants": ["V218Wfs*32 (n=1)", "Q1680* (n=1)", "E1215* (n=1)", "P1123Hfs*15 (n=1)", "R1261C (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 · Myeloproliferative Neoplasms (CIMR, NEJM 2013)", "source_url": "https://www.cbioportal.org/study/summary?id=mpn_cimr_2013", "source_record_id": "mpn_cimr_2013", "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: Myeloproliferative Neoplasms (CIMR, NEJM 2013), 21/151 patients (13.91%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "mpn_cimr_2013", "cohort_name": "Myeloproliferative Neoplasms (CIMR, NEJM 2013)", "altered": 21, "tested": 151, "frequency": 13.91, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "mpn_cimr_2013", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 46.37, "width": 1.0, "reference": 46.37, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 21, "tested": 151, "frequency": 13.91, "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": "ASXL1", "alteration_types": ["SNV / small indel"], "altered": 12, "tested": 151, "frequency": 7.95, "cohort_count": 1, "frequency_range": {"min": 7.95, "max": 7.95}, "major_variants": ["Q733* (n=2)", "E480* (n=1)", "R715Efs*10 (n=1)", "Y591* (n=1)", "A716Vfs*9 (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 · Myeloproliferative Neoplasms (CIMR, NEJM 2013)", "source_url": "https://www.cbioportal.org/study/summary?id=mpn_cimr_2013", "source_record_id": "mpn_cimr_2013", "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: Myeloproliferative Neoplasms (CIMR, NEJM 2013), 12/151 patients (7.95%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "mpn_cimr_2013", "cohort_name": "Myeloproliferative Neoplasms (CIMR, NEJM 2013)", "altered": 12, "tested": 151, "frequency": 7.95, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "mpn_cimr_2013", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 26.5, "width": 1.0, "reference": 26.5, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 12, "tested": 151, "frequency": 7.95, "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": "EZH2", "alteration_types": ["SNV / small indel"], "altered": 4, "tested": 151, "frequency": 2.65, "cohort_count": 1, "frequency_range": {"min": 2.65, "max": 2.65}, "major_variants": ["X677_splice (n=1)", "W629R (n=1)", "R288Q (n=1)", "R690H (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 · Myeloproliferative Neoplasms (CIMR, NEJM 2013)", "source_url": "https://www.cbioportal.org/study/summary?id=mpn_cimr_2013", "source_record_id": "mpn_cimr_2013", "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: Myeloproliferative Neoplasms (CIMR, NEJM 2013), 4/151 patients (2.65%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "mpn_cimr_2013", "cohort_name": "Myeloproliferative Neoplasms (CIMR, NEJM 2013)", "altered": 4, "tested": 151, "frequency": 2.65, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "mpn_cimr_2013", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 8.83, "width": 1.0, "reference": 8.83, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 151, "frequency": 2.65, "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": "SRSF2", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 151, "frequency": 1.32, "cohort_count": 1, "frequency_range": {"min": 1.32, "max": 1.32}, "major_variants": ["P95L (n=1)", "P95H (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 · Myeloproliferative Neoplasms (CIMR, NEJM 2013)", "source_url": "https://www.cbioportal.org/study/summary?id=mpn_cimr_2013", "source_record_id": "mpn_cimr_2013", "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: Myeloproliferative Neoplasms (CIMR, NEJM 2013), 2/151 patients (1.32%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "mpn_cimr_2013", "cohort_name": "Myeloproliferative Neoplasms (CIMR, NEJM 2013)", "altered": 2, "tested": 151, "frequency": 1.32, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "mpn_cimr_2013", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.4, "width": 1.0, "reference": 4.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 151, "frequency": 1.32, "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": "U2AF1", "alteration_types": ["SNV / small indel"], "altered": 4, "tested": 151, "frequency": 2.65, "cohort_count": 1, "frequency_range": {"min": 2.65, "max": 2.65}, "major_variants": ["Q157P (n=3)", "S34Y (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 · Myeloproliferative Neoplasms (CIMR, NEJM 2013)", "source_url": "https://www.cbioportal.org/study/summary?id=mpn_cimr_2013", "source_record_id": "mpn_cimr_2013", "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: Myeloproliferative Neoplasms (CIMR, NEJM 2013), 4/151 patients (2.65%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "mpn_cimr_2013", "cohort_name": "Myeloproliferative Neoplasms (CIMR, NEJM 2013)", "altered": 4, "tested": 151, "frequency": 2.65, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "mpn_cimr_2013", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 8.83, "width": 1.0, "reference": 8.83, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 151, "frequency": 2.65, "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": "IDH2", "alteration_types": ["SNV / small indel"], "altered": 1, "tested": 151, "frequency": 0.66, "cohort_count": 1, "frequency_range": {"min": 0.66, "max": 0.66}, "major_variants": ["R140Q (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 · Myeloproliferative Neoplasms (CIMR, NEJM 2013)", "source_url": "https://www.cbioportal.org/study/summary?id=mpn_cimr_2013", "source_record_id": "mpn_cimr_2013", "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: Myeloproliferative Neoplasms (CIMR, NEJM 2013), 1/151 patients (0.66%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "mpn_cimr_2013", "cohort_name": "Myeloproliferative Neoplasms (CIMR, NEJM 2013)", "altered": 1, "tested": 151, "frequency": 0.66, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "mpn_cimr_2013", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.2, "width": 1.0, "reference": 2.2, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 1, "tested": 151, "frequency": 0.66, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TP53", "alteration_types": ["SNV / small indel"], "altered": 3, "tested": 151, "frequency": 1.99, "cohort_count": 1, "frequency_range": {"min": 1.99, "max": 1.99}, "major_variants": ["R249M (n=1)", "R273G (n=1)", "C275Y (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; 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not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Myeloproliferative Neoplasms (CIMR, NEJM 2013)", "source_url": "https://www.cbioportal.org/study/summary?id=mpn_cimr_2013", "source_record_id": "mpn_cimr_2013", "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: Myeloproliferative Neoplasms (CIMR, NEJM 2013), 2/151 patients (1.32%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "mpn_cimr_2013", "cohort_name": "Myeloproliferative Neoplasms (CIMR, NEJM 2013)", "altered": 2, "tested": 151, "frequency": 1.32, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "mpn_cimr_2013", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.4, "width": 1.0, "reference": 4.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 151, "frequency": 1.32, "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": "ELAPOR1", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 151, "frequency": 1.32, "cohort_count": 1, "frequency_range": {"min": 1.32, "max": 1.32}, "major_variants": ["P857Rfs*8 (n=1)", "D164N (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; 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not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Myeloproliferative Neoplasms (CIMR, NEJM 2013)", "source_url": "https://www.cbioportal.org/study/summary?id=mpn_cimr_2013", "source_record_id": "mpn_cimr_2013", "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: Myeloproliferative Neoplasms (CIMR, NEJM 2013), 2/151 patients (1.32%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "mpn_cimr_2013", "cohort_name": "Myeloproliferative Neoplasms (CIMR, NEJM 2013)", "altered": 2, "tested": 151, "frequency": 1.32, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "mpn_cimr_2013", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.4, "width": 1.0, "reference": 4.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 151, "frequency": 1.32, "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": 1, "total_cohorts": 1}, {"modality": "Copy number (discrete)", "available_cohorts": 0, "total_cohorts": 1}, {"modality": "Structural variant (present, not read)", "available_cohorts": 0, "total_cohorts": 1}], "chromosome_summary": [], "cohorts": [{"name": "Myeloproliferative Neoplasms (CIMR, NEJM 2013)", "source": "cBioPortal", "accession": "mpn_cimr_2013", "patients": {"value": 151, "status": "observed", "unit": "patients"}, "samples": {"value": 151, "status": "observed", "unit": "samples"}, "disease_subtype": "Myeloproliferative Neoplasms (CIMR, NEJM 2013)", "assay_type": "exome or genome", "sequencing_method": "WES (151)", "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": "mpn_cimr_2013", "is_demo": false, "assay_coverage": {"patients_with_calls": 151, "patients_in_roster": 151, "frequencies_computed": true, "samples_sequenced": 151, "samples_in_study": 151, "hypermutated_patients": 0, "median_mutations_per_sample": 6, "reason": null}}], "sources": [{"source_name": "cBioPortal · Myeloproliferative Neoplasms (CIMR, NEJM 2013)", "source_url": "https://www.cbioportal.org/study/summary?id=mpn_cimr_2013", "source_record_id": "mpn_cimr_2013", "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 Myeloproliferative Neoplasms (CIMR, NEJM 2013) (151 sequenced patients, exome or genome), the most frequently altered of the 42 genes shown are JAK2 74.17%, CALR 16.56%, TET2 13.91%, ASXL1 7.95%, DNMT3A 7.95%. Each figure divides by the patients on whom that gene could be called.", "Of the briefing's 12 curated targets, 5 are altered in under 2% of this cohort (SRSF2, IDH2, TP53, SH2B3, NFE2): targets by expression, dependency or drug label, not by mutation. Frequency is not targetability, in either direction.", "1 cohorts are shown and none are pooled; overlap between them has not been checked and there is no disease-wide percentage."], "key_findings": [{"finding": "JAK2 is mutated in 112 of 151 patients in Myeloproliferative Neoplasms (CIMR, NEJM 2013).", "numerator": 112, "denominator": 151, "frequency": 74.17, "cohorts": 1, "evidence_confidence": "moderate", "source": "mpn_cimr_2013", "retrieved_at": "2026-09-18"}, {"finding": "CALR is mutated in 25 of 151 patients in Myeloproliferative Neoplasms (CIMR, NEJM 2013).", "numerator": 25, "denominator": 151, "frequency": 16.56, "cohorts": 1, "evidence_confidence": "moderate", "source": "mpn_cimr_2013", "retrieved_at": "2026-09-18"}, {"finding": "TET2 is mutated in 21 of 151 patients in Myeloproliferative Neoplasms (CIMR, NEJM 2013).", "numerator": 21, "denominator": 151, "frequency": 13.91, "cohorts": 1, "evidence_confidence": "moderate", "source": "mpn_cimr_2013", "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": "mpn_cimr_2013", "region_events": [], "matrix": [{"label": "JAK2", "kind": "SNV / small indel", "gene": "JAK2", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 74.17, "altered": 112, "tested": 151, "note": null}]}, {"label": "CALR", "kind": "SNV / small indel", "gene": "CALR", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 16.56, "altered": 25, "tested": 151, "note": null}]}, {"label": "MPL", "kind": "SNV / small indel", "gene": "MPL", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 4.64, "altered": 7, "tested": 151, "note": null}]}, {"label": "TET2", "kind": "SNV / small indel", "gene": "TET2", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 13.91, "altered": 21, "tested": 151, "note": null}]}, {"label": "ASXL1", "kind": "SNV / small indel", "gene": "ASXL1", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 7.95, "altered": 12, "tested": 151, "note": null}]}, {"label": "EZH2", "kind": "SNV / small indel", "gene": "EZH2", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 2.65, "altered": 4, "tested": 151, "note": null}]}, {"label": "SRSF2", "kind": "SNV / small indel", "gene": "SRSF2", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": null}]}, {"label": "U2AF1", "kind": "SNV / small indel", "gene": "U2AF1", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 2.65, "altered": 4, "tested": 151, "note": null}]}, {"label": "IDH2", "kind": "SNV / small indel", "gene": "IDH2", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 0.66, "altered": 1, "tested": 151, "note": null}]}, {"label": "TP53", "kind": "SNV / small indel", "gene": "TP53", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.99, "altered": 3, "tested": 151, "note": null}]}, {"label": "SH2B3", "kind": "SNV / small indel", "gene": "SH2B3", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 0.66, "altered": 1, "tested": 151, "note": null}]}, {"label": "NFE2", "kind": "SNV / small indel", "gene": "NFE2", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": null}]}, {"label": "DNMT3A", "kind": "SNV / small indel", "gene": "DNMT3A", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 7.95, "altered": 12, "tested": 151, "note": null}]}, {"label": "SF3B1", "kind": "SNV / small indel", "gene": "SF3B1", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.99, "altered": 3, "tested": 151, "note": null}]}, {"label": "HUWE1", "kind": "SNV / small indel", "gene": "HUWE1", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.99, "altered": 3, "tested": 151, "note": null}]}, {"label": "CHEK2", "kind": "SNV / small indel", "gene": "CHEK2", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.99, "altered": 3, "tested": 151, "note": null}]}, {"label": "ZBTB33", "kind": "SNV / small indel", "gene": "ZBTB33", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": null}]}, {"label": "TG", "kind": "SNV / small indel", "gene": "TG", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": null}]}, {"label": "TCF4", "kind": "SNV / small indel", "gene": "TCF4", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": null}]}, {"label": "SVEP1", "kind": "SNV / small indel", "gene": "SVEP1", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": null}]}, {"label": "SI", "kind": "SNV / small indel", "gene": "SI", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": null}]}, {"label": "SEC16A", "kind": "SNV / small indel", "gene": "SEC16A", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": null}]}, {"label": "SARDH", "kind": "SNV / small indel", "gene": "SARDH", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": null}]}, {"label": "PRR14L", "kind": "SNV / small indel", "gene": "PRR14L", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": null}]}, {"label": "PRKACB", "kind": "SNV / small indel", "gene": "PRKACB", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": null}]}, {"label": "PHIP", "kind": "SNV / small indel", "gene": "PHIP", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": null}]}, {"label": "PHF6", "kind": "SNV / small indel", "gene": "PHF6", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": null}]}, {"label": "KSR2", "kind": "SNV / small indel", "gene": "KSR2", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": null}]}, {"label": "KIAA1217", "kind": "SNV / small indel", "gene": "KIAA1217", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": null}]}, {"label": "KANSL3", "kind": "SNV / small indel", "gene": "KANSL3", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": null}]}, {"label": "IL6ST", "kind": "SNV / small indel", "gene": "IL6ST", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": null}]}, {"label": "IDH1", "kind": "SNV / small indel", "gene": "IDH1", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": null}]}, {"label": "HYDIN2", "kind": "SNV / small indel", "gene": "HYDIN2", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": null}]}, {"label": "HECW1", "kind": "SNV / small indel", "gene": "HECW1", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": null}]}, {"label": "GRIN2B", "kind": "SNV / small indel", "gene": "GRIN2B", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": null}]}, {"label": "GABRB3", "kind": "SNV / small indel", "gene": "GABRB3", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": null}]}, {"label": "FAT2", "kind": "SNV / small indel", "gene": "FAT2", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": null}]}, {"label": "FARS2", "kind": "SNV / small indel", "gene": "FARS2", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": null}]}, {"label": "EZH1", "kind": "SNV / small indel", "gene": "EZH1", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": null}]}, {"label": "EPHA7", "kind": "SNV / small indel", "gene": "EPHA7", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": null}]}, {"label": "ELAPOR1", "kind": "SNV / small indel", "gene": "ELAPOR1", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": null}]}, {"label": "DTNA", "kind": "SNV / small indel", "gene": "DTNA", "cells": [{"cohort": "mpn_cimr_2013", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": null}]}]}