{"disease": {"name": "Myelodysplastic syndromes", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "mds"}, "updated_at": "2026-09-17", "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": "SF3B1", "alteration_types": ["SNV / small indel"], "altered": 754, "tested": 3323, "frequency": 22.69, "cohort_count": 2, "frequency_range": {"min": 8.93, "max": 22.69}, "major_variants": ["K700E (n=426)", "H662Q (n=55)", "K666N (n=41)", "R625C (n=38)", "E622D (n=30)"], "evidence_confidence": "low", "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 · IWG-PM myelodysplastic syndromes (NEJM Evidence 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=mds_iwg_2022", "source_record_id": "mds_iwg_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · MSK myelodysplastic syndromes (2020)", "source_url": "https://www.cbioportal.org/study/summary?id=mds_mskcc_2020", "source_record_id": "mds_mskcc_2020", "source_version": null, "retrieved_at": "2026-09-17", "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: IWG-PM myelodysplastic syndromes (NEJM Evidence 2022), 754/3323 patients (22.69%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "mds_iwg_2022", "cohort_name": "IWG-PM myelodysplastic syndromes (NEJM Evidence 2022)", "altered": 754, "tested": 3323, "frequency": 22.69, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "3323/3323", "coverage_note": null, "source_id": "mds_iwg_2022", "is_reference": true}, {"cohort": "mds_mskcc_2020", "cohort_name": "MSK myelodysplastic syndromes (2020)", "altered": 378, "tested": 4231, "frequency": 8.93, "frequency_excl_hypermutated": 8.96, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "4231/4231", "coverage_note": null, "source_id": "mds_mskcc_2020", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 29.77, "width": 45.86, "reference": 75.63, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 754, "tested": 3323, "frequency": 22.69, "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": 390, "tested": 3323, "frequency": 11.74, "cohort_count": 2, "frequency_range": {"min": 9.41, "max": 11.74}, "major_variants": ["R273H (n=28)", "Y220C (n=17)", "R248Q (n=16)", "R175H (n=12)", "R248W (n=12)"], "evidence_confidence": "low", "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 · IWG-PM myelodysplastic syndromes (NEJM Evidence 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=mds_iwg_2022", "source_record_id": "mds_iwg_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · MSK myelodysplastic syndromes (2020)", "source_url": "https://www.cbioportal.org/study/summary?id=mds_mskcc_2020", "source_record_id": "mds_mskcc_2020", "source_version": null, "retrieved_at": "2026-09-17", "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: IWG-PM myelodysplastic syndromes (NEJM Evidence 2022), 390/3323 patients (11.74%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "mds_iwg_2022", "cohort_name": "IWG-PM myelodysplastic syndromes (NEJM Evidence 2022)", "altered": 390, "tested": 3323, "frequency": 11.74, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "3323/3323", "coverage_note": null, "source_id": "mds_iwg_2022", "is_reference": true}, {"cohort": "mds_mskcc_2020", "cohort_name": "MSK myelodysplastic syndromes (2020)", "altered": 398, "tested": 4231, "frequency": 9.41, "frequency_excl_hypermutated": 9.41, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "4231/4231", "coverage_note": null, "source_id": "mds_mskcc_2020", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 31.37, "width": 7.76, "reference": 39.13, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 390, "tested": 3323, "frequency": 11.74, "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": 1043, "tested": 3323, "frequency": 31.39, "cohort_count": 2, "frequency_range": {"min": 16.12, "max": 31.39}, "major_variants": ["I1873T (n=25)", "R550* (n=21)", "R1516* (n=19)", "N275Ifs*18 (n=18)", "H1380Y (n=15)"], "evidence_confidence": "low", "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 · IWG-PM myelodysplastic syndromes (NEJM Evidence 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=mds_iwg_2022", "source_record_id": "mds_iwg_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · MSK myelodysplastic syndromes (2020)", "source_url": "https://www.cbioportal.org/study/summary?id=mds_mskcc_2020", "source_record_id": "mds_mskcc_2020", "source_version": null, "retrieved_at": "2026-09-17", "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: IWG-PM myelodysplastic syndromes (NEJM Evidence 2022), 1043/3323 patients (31.39%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "mds_iwg_2022", "cohort_name": "IWG-PM myelodysplastic syndromes (NEJM Evidence 2022)", "altered": 1043, "tested": 3323, "frequency": 31.39, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "3323/3323", "coverage_note": null, "source_id": "mds_iwg_2022", "is_reference": true}, {"cohort": "mds_mskcc_2020", "cohort_name": "MSK myelodysplastic syndromes (2020)", "altered": 682, "tested": 4231, "frequency": 16.12, "frequency_excl_hypermutated": 16.13, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "4231/4231", "coverage_note": null, "source_id": "mds_mskcc_2020", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 53.73, "width": 46.27, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 1043, "tested": 3323, "frequency": 31.39, "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": 944, "tested": 3323, "frequency": 28.41, "cohort_count": 2, "frequency_range": {"min": 10.26, "max": 28.41}, "major_variants": ["G646Wfs*12 (n=371)", "E635Rfs*15 (n=114)", "R693* (n=40)", "Y591* (n=25)", "R1068* (n=12)"], "evidence_confidence": "low", "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 · IWG-PM myelodysplastic syndromes (NEJM Evidence 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=mds_iwg_2022", "source_record_id": "mds_iwg_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · MSK myelodysplastic syndromes (2020)", "source_url": "https://www.cbioportal.org/study/summary?id=mds_mskcc_2020", "source_record_id": "mds_mskcc_2020", "source_version": null, "retrieved_at": "2026-09-17", "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: IWG-PM myelodysplastic syndromes (NEJM Evidence 2022), 944/3323 patients (28.41%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "mds_iwg_2022", "cohort_name": "IWG-PM myelodysplastic syndromes (NEJM Evidence 2022)", "altered": 944, "tested": 3323, "frequency": 28.41, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "3323/3323", "coverage_note": null, "source_id": "mds_iwg_2022", "is_reference": true}, {"cohort": "mds_mskcc_2020", "cohort_name": "MSK myelodysplastic syndromes (2020)", "altered": 434, "tested": 4231, "frequency": 10.26, "frequency_excl_hypermutated": 10.29, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "4231/4231", "coverage_note": null, "source_id": "mds_mskcc_2020", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 34.2, "width": 60.5, "reference": 94.7, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 944, "tested": 3323, "frequency": 28.41, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "DNMT3A", "alteration_types": ["SNV / small indel"], "altered": 533, "tested": 3323, "frequency": 16.04, "cohort_count": 2, "frequency_range": {"min": 16.04, "max": 20.14}, "major_variants": ["R882H (n=81)", "R882C (n=32)", "Y735C (n=10)", "R635Q (n=8)", "X866_splice (n=7)"], "evidence_confidence": "low", "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 · IWG-PM myelodysplastic syndromes (NEJM Evidence 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=mds_iwg_2022", "source_record_id": "mds_iwg_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · MSK myelodysplastic syndromes (2020)", "source_url": "https://www.cbioportal.org/study/summary?id=mds_mskcc_2020", "source_record_id": "mds_mskcc_2020", "source_version": null, "retrieved_at": "2026-09-17", "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: IWG-PM myelodysplastic syndromes (NEJM Evidence 2022), 533/3323 patients (16.04%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "mds_iwg_2022", "cohort_name": "IWG-PM myelodysplastic syndromes (NEJM Evidence 2022)", "altered": 533, "tested": 3323, "frequency": 16.04, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "3323/3323", "coverage_note": null, "source_id": "mds_iwg_2022", "is_reference": true}, {"cohort": "mds_mskcc_2020", "cohort_name": "MSK myelodysplastic syndromes (2020)", "altered": 852, "tested": 4231, "frequency": 20.14, "frequency_excl_hypermutated": 20.22, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "4231/4231", "coverage_note": null, "source_id": "mds_mskcc_2020", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 53.47, "width": 13.66, "reference": 53.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 533, "tested": 3323, "frequency": 16.04, "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": "RUNX1", "alteration_types": ["SNV / small indel"], "altered": 465, "tested": 3323, "frequency": 13.99, "cohort_count": 2, "frequency_range": {"min": 9.57, "max": 13.99}, "major_variants": ["R201Q (n=27)", "R201* (n=15)", "R320* (n=15)", "R166* (n=14)", "R107C (n=10)"], "evidence_confidence": "low", "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 · IWG-PM myelodysplastic syndromes (NEJM Evidence 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=mds_iwg_2022", "source_record_id": "mds_iwg_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · MSK myelodysplastic syndromes (2020)", "source_url": "https://www.cbioportal.org/study/summary?id=mds_mskcc_2020", "source_record_id": "mds_mskcc_2020", "source_version": null, "retrieved_at": "2026-09-17", "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: IWG-PM myelodysplastic syndromes (NEJM Evidence 2022), 465/3323 patients (13.99%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "mds_iwg_2022", "cohort_name": "IWG-PM myelodysplastic syndromes (NEJM Evidence 2022)", "altered": 465, "tested": 3323, "frequency": 13.99, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "3323/3323", "coverage_note": null, "source_id": "mds_iwg_2022", "is_reference": true}, {"cohort": "mds_mskcc_2020", "cohort_name": "MSK myelodysplastic syndromes (2020)", "altered": 405, "tested": 4231, "frequency": 9.57, "frequency_excl_hypermutated": 9.62, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "4231/4231", "coverage_note": null, "source_id": "mds_mskcc_2020", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 31.9, "width": 14.73, "reference": 46.63, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 465, "tested": 3323, "frequency": 13.99, "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": 578, "tested": 3323, "frequency": 17.39, "cohort_count": 2, "frequency_range": {"min": 9.81, "max": 17.39}, "major_variants": ["P95H (n=246)", "P95L (n=147)", "P95R (n=84)", "P95_R102del (n=60)", "P95A (n=9)"], "evidence_confidence": "low", "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 · IWG-PM myelodysplastic syndromes (NEJM Evidence 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=mds_iwg_2022", "source_record_id": "mds_iwg_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · MSK myelodysplastic syndromes (2020)", "source_url": "https://www.cbioportal.org/study/summary?id=mds_mskcc_2020", "source_record_id": "mds_mskcc_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; 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the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: IWG-PM myelodysplastic syndromes (NEJM Evidence 2022), 101/3323 patients (3.04%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "mds_iwg_2022", "cohort_name": "IWG-PM myelodysplastic syndromes (NEJM Evidence 2022)", "altered": 101, "tested": 3323, "frequency": 3.04, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "3323/3323", "coverage_note": null, "source_id": "mds_iwg_2022", "is_reference": true}, {"cohort": "mds_mskcc_2020", "cohort_name": "MSK myelodysplastic syndromes (2020)", "altered": 19, "tested": 3601, "frequency": 0.53, "frequency_excl_hypermutated": 0.5, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "4231/4231", "coverage_note": null, "source_id": "mds_mskcc_2020", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 1.77, "width": 8.36, "reference": 10.13, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 101, "tested": 3323, "frequency": 3.04, "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": 100, "tested": 3323, "frequency": 3.01, "cohort_count": 2, "frequency_range": {"min": 0.49, "max": 3.01}, "major_variants": ["P1560A (n=3)", "N2220S (n=3)", "A167dup (n=2)", "G127dup (n=2)", "V1982I (n=2)"], "evidence_confidence": "low", "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 · IWG-PM myelodysplastic syndromes (NEJM Evidence 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=mds_iwg_2022", "source_record_id": "mds_iwg_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · MSK myelodysplastic syndromes (2020)", "source_url": "https://www.cbioportal.org/study/summary?id=mds_mskcc_2020", "source_record_id": "mds_mskcc_2020", "source_version": null, "retrieved_at": "2026-09-17", "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: IWG-PM myelodysplastic syndromes (NEJM Evidence 2022), 100/3323 patients (3.01%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "mds_iwg_2022", "cohort_name": "IWG-PM myelodysplastic syndromes (NEJM Evidence 2022)", "altered": 100, "tested": 3323, "frequency": 3.01, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "3323/3323", "coverage_note": null, "source_id": "mds_iwg_2022", "is_reference": true}, {"cohort": "mds_mskcc_2020", "cohort_name": "MSK myelodysplastic syndromes (2020)", "altered": 8, "tested": 1638, "frequency": 0.49, "frequency_excl_hypermutated": 0.43, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "4231/4231", "coverage_note": null, "source_id": "mds_mskcc_2020", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 1.63, "width": 8.4, "reference": 10.03, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 100, "tested": 3323, "frequency": 3.01, "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": 97, "tested": 3323, "frequency": 2.92, "cohort_count": 2, "frequency_range": {"min": 1.11, "max": 2.92}, "major_variants": ["W515L (n=12)", "Y591D (n=8)", "V556F (n=6)", "R592* (n=6)", "R592Q (n=5)"], "evidence_confidence": "low", "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 · IWG-PM myelodysplastic syndromes (NEJM Evidence 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=mds_iwg_2022", "source_record_id": "mds_iwg_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · MSK myelodysplastic syndromes (2020)", "source_url": "https://www.cbioportal.org/study/summary?id=mds_mskcc_2020", "source_record_id": "mds_mskcc_2020", "source_version": null, "retrieved_at": "2026-09-17", "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: IWG-PM myelodysplastic syndromes (NEJM Evidence 2022), 97/3323 patients (2.92%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "mds_iwg_2022", "cohort_name": "IWG-PM myelodysplastic syndromes (NEJM Evidence 2022)", "altered": 97, "tested": 3323, "frequency": 2.92, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "3323/3323", "coverage_note": null, "source_id": "mds_iwg_2022", "is_reference": true}, {"cohort": "mds_mskcc_2020", "cohort_name": "MSK myelodysplastic syndromes (2020)", "altered": 47, "tested": 4231, "frequency": 1.11, "frequency_excl_hypermutated": 1.12, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "4231/4231", "coverage_note": null, "source_id": "mds_mskcc_2020", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.7, "width": 6.03, "reference": 9.73, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 97, "tested": 3323, "frequency": 2.92, "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": "SETD2", "alteration_types": ["SNV / small indel"], "altered": 96, "tested": 3323, "frequency": 2.89, "cohort_count": 2, "frequency_range": {"min": 0.79, "max": 2.89}, "major_variants": ["K629E (n=5)", "N1943K (n=2)", "P2057S (n=2)", "G1967D (n=2)", "G508V (n=2)"], "evidence_confidence": "low", "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 · IWG-PM myelodysplastic syndromes (NEJM Evidence 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=mds_iwg_2022", "source_record_id": "mds_iwg_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · MSK myelodysplastic syndromes (2020)", "source_url": "https://www.cbioportal.org/study/summary?id=mds_mskcc_2020", "source_record_id": "mds_mskcc_2020", "source_version": null, "retrieved_at": "2026-09-17", "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: IWG-PM myelodysplastic syndromes (NEJM Evidence 2022), 96/3323 patients (2.89%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "mds_iwg_2022", "cohort_name": "IWG-PM myelodysplastic syndromes (NEJM Evidence 2022)", "altered": 96, "tested": 3323, "frequency": 2.89, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "3323/3323", "coverage_note": null, "source_id": "mds_iwg_2022", "is_reference": true}, {"cohort": "mds_mskcc_2020", "cohort_name": "MSK myelodysplastic syndromes (2020)", "altered": 13, "tested": 1638, "frequency": 0.79, "frequency_excl_hypermutated": 0.62, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "4231/4231", "coverage_note": null, "source_id": "mds_mskcc_2020", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.63, "width": 7.0, "reference": 9.63, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 96, "tested": 3323, "frequency": 2.89, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PHIP", "alteration_types": ["SNV / small indel"], "altered": 95, "tested": 3323, "frequency": 2.86, "cohort_count": 2, "frequency_range": {"min": 0.97, "max": 2.86}, "major_variants": ["R110C (n=2)", "X14_splice (n=2)", "I1622V (n=2)", "X509_splice (n=2)", "R797C (n=2)"], "evidence_confidence": "low", "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 · IWG-PM myelodysplastic syndromes (NEJM Evidence 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=mds_iwg_2022", "source_record_id": "mds_iwg_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · MSK myelodysplastic syndromes (2020)", "source_url": "https://www.cbioportal.org/study/summary?id=mds_mskcc_2020", "source_record_id": "mds_mskcc_2020", "source_version": null, "retrieved_at": "2026-09-17", "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: IWG-PM myelodysplastic syndromes (NEJM Evidence 2022), 95/3323 patients (2.86%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "mds_iwg_2022", "cohort_name": "IWG-PM myelodysplastic syndromes (NEJM Evidence 2022)", "altered": 95, "tested": 3323, "frequency": 2.86, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "3323/3323", "coverage_note": null, "source_id": "mds_iwg_2022", "is_reference": true}, {"cohort": "mds_mskcc_2020", "cohort_name": "MSK myelodysplastic syndromes (2020)", "altered": 10, "tested": 1026, "frequency": 0.97, "frequency_excl_hypermutated": 0.5, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "4231/4231", "coverage_note": null, "source_id": "mds_mskcc_2020", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.23, "width": 6.3, "reference": 9.53, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 95, "tested": 3323, "frequency": 2.86, "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": "ETNK1", "alteration_types": ["SNV / small indel"], "altered": 91, "tested": 3323, "frequency": 2.74, "cohort_count": 2, "frequency_range": {"min": 0.37, "max": 2.74}, "major_variants": ["N244S (n=61)", "G245D (n=3)", "N244Y (n=2)", "S124R (n=2)", "P248R (n=2)"], "evidence_confidence": "low", "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 · IWG-PM myelodysplastic syndromes (NEJM Evidence 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=mds_iwg_2022", "source_record_id": "mds_iwg_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · MSK myelodysplastic syndromes (2020)", "source_url": "https://www.cbioportal.org/study/summary?id=mds_mskcc_2020", "source_record_id": "mds_mskcc_2020", "source_version": null, "retrieved_at": "2026-09-17", "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: IWG-PM myelodysplastic syndromes (NEJM Evidence 2022), 91/3323 patients (2.74%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "mds_iwg_2022", "cohort_name": "IWG-PM myelodysplastic syndromes (NEJM Evidence 2022)", "altered": 91, "tested": 3323, "frequency": 2.74, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "3323/3323", "coverage_note": null, "source_id": "mds_iwg_2022", "is_reference": true}, {"cohort": "mds_mskcc_2020", "cohort_name": "MSK myelodysplastic syndromes (2020)", "altered": 6, "tested": 1635, "frequency": 0.37, "frequency_excl_hypermutated": 0.37, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "4231/4231", "coverage_note": null, "source_id": "mds_mskcc_2020", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 1.23, "width": 7.9, "reference": 9.13, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 91, "tested": 3323, "frequency": 2.74, "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": 0, "total_cohorts": 2}], "chromosome_summary": [], "cohorts": [{"name": "IWG-PM myelodysplastic syndromes (NEJM Evidence 2022)", "source": "cBioPortal", "accession": "mds_iwg_2022", "patients": {"value": 3323, "status": "observed", "unit": "patients"}, "samples": {"value": 3323, "status": "observed", "unit": "samples"}, "disease_subtype": "Myelodysplastic Syndromes (MDS IWG, IPSSM, NEJM Evidence 2022)", "assay_type": "targeted panel", "sequencing_method": "MDSIWG152 (3323)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel"], "genes_assayed": "panel genes only; per-gene denominators", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-17", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "mds_iwg_2022", "is_demo": false, "assay_coverage": {"patients_with_calls": 3323, "patients_in_roster": 3323, "frequencies_computed": true, "samples_sequenced": 3323, "samples_in_study": 3323, "hypermutated_patients": 0, "median_mutations_per_sample": 4, "reason": null}}, {"name": "MSK myelodysplastic syndromes (2020)", "source": "cBioPortal", "accession": "mds_mskcc_2020", "patients": {"value": 4231, "status": "observed", "unit": "patients"}, "samples": {"value": 4231, "status": "observed", "unit": "samples"}, "disease_subtype": "Myelodysplastic (MSK, 2020)", "assay_type": "mixed", "sequencing_method": "Papaemmanuil_NEJM_2016_MDS_2013_panel (1963), WES (1026), RDTB49 (630), IMPACT-HEME-400 (609), IMPACT468 (2), IMPACT410 (1)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel"], "genes_assayed": "panel genes only; per-gene denominators", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-17", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "mds_mskcc_2020", "is_demo": false, "assay_coverage": {"patients_with_calls": 4231, "patients_in_roster": 4231, "frequencies_computed": true, "samples_sequenced": 4231, "samples_in_study": 4231, "hypermutated_patients": 22, "median_mutations_per_sample": 3, "reason": null}}], "sources": [{"source_name": "cBioPortal · IWG-PM myelodysplastic syndromes (NEJM Evidence 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=mds_iwg_2022", "source_record_id": "mds_iwg_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · MSK myelodysplastic syndromes (2020)", "source_url": "https://www.cbioportal.org/study/summary?id=mds_mskcc_2020", "source_record_id": "mds_mskcc_2020", "source_version": null, "retrieved_at": "2026-09-17", "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 2026-09-17; 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 IWG-PM myelodysplastic syndromes (NEJM Evidence 2022) (3323 sequenced patients, targeted panel), the most frequently altered of the 41 genes shown are TET2 31.39%, ASXL1 28.41%, SF3B1 22.69%, SRSF2 17.39%, DNMT3A 16.04%. Each figure divides by the patients on whom that gene could be called.", "Of the briefing's 12 curated targets, 1 are altered in under 2% of this cohort (BCL2): 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": "TET2 is mutated in 1043 of 3323 patients in IWG-PM myelodysplastic syndromes (NEJM Evidence 2022).", "numerator": 1043, "denominator": 3323, "frequency": 31.39, "cohorts": 2, "evidence_confidence": "low", "source": "mds_iwg_2022", "retrieved_at": "2026-09-17"}, {"finding": "ASXL1 is mutated in 944 of 3323 patients in IWG-PM myelodysplastic syndromes (NEJM Evidence 2022).", "numerator": 944, "denominator": 3323, "frequency": 28.41, "cohorts": 2, "evidence_confidence": "low", "source": "mds_iwg_2022", "retrieved_at": "2026-09-17"}, {"finding": "SF3B1 is mutated in 754 of 3323 patients in IWG-PM myelodysplastic syndromes (NEJM Evidence 2022).", "numerator": 754, "denominator": 3323, "frequency": 22.69, "cohorts": 2, "evidence_confidence": "low", "source": "mds_iwg_2022", "retrieved_at": "2026-09-17"}], "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": "mds_iwg_2022", "region_events": [], "matrix": [{"label": "SF3B1", "kind": "SNV / small indel", "gene": "SF3B1", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 22.69, "altered": 754, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 8.93, "altered": 378, "tested": 4231, "note": null}]}, {"label": "TP53", "kind": "SNV / small indel", "gene": "TP53", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 11.74, "altered": 390, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 9.41, "altered": 398, "tested": 4231, "note": null}]}, {"label": "TET2", "kind": "SNV / small indel", "gene": "TET2", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 31.39, "altered": 1043, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 16.12, "altered": 682, "tested": 4231, "note": null}]}, {"label": "ASXL1", "kind": "SNV / small indel", "gene": "ASXL1", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 28.41, "altered": 944, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 10.26, "altered": 434, "tested": 4231, "note": null}]}, {"label": "DNMT3A", "kind": "SNV / small indel", "gene": "DNMT3A", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 16.04, "altered": 533, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 20.14, "altered": 852, "tested": 4231, "note": null}]}, {"label": "RUNX1", "kind": "SNV / small indel", "gene": "RUNX1", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 13.99, "altered": 465, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 9.57, "altered": 405, "tested": 4231, "note": null}]}, {"label": "SRSF2", "kind": "SNV / small indel", "gene": "SRSF2", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 17.39, "altered": 578, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 9.81, "altered": 415, "tested": 4231, "note": null}]}, {"label": "U2AF1", "kind": "SNV / small indel", "gene": "U2AF1", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 8.7, "altered": 289, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 4.77, "altered": 202, "tested": 4231, "note": null}]}, {"label": "EZH2", "kind": "SNV / small indel", "gene": "EZH2", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 7.22, "altered": 240, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 3.99, "altered": 169, "tested": 4231, "note": null}]}, {"label": "STAG2", "kind": "SNV / small indel", "gene": "STAG2", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 9.3, "altered": 309, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 4.4, "altered": 186, "tested": 4231, "note": null}]}, {"label": "IDH2", "kind": "SNV / small indel", "gene": "IDH2", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 5.39, "altered": 179, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 8.48, "altered": 359, "tested": 4231, "note": null}]}, {"label": "BCL2", "kind": "SNV / small indel", "gene": "BCL2", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 0.06, "altered": 2, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 1638, "note": null}]}, {"label": "KMT2D", "kind": "SNV / small indel", "gene": "KMT2D", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 6.68, "altered": 222, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 2.08, "altered": 75, "tested": 3601, "note": null}]}, {"label": "BCOR", "kind": "SNV / small indel", "gene": "BCOR", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 6.62, "altered": 220, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 3.71, "altered": 157, "tested": 4231, "note": null}]}, {"label": "ZRSR2", "kind": "SNV / small indel", "gene": "ZRSR2", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 6.02, "altered": 200, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 2.15, "altered": 91, "tested": 4231, "note": null}]}, {"label": "CBL", "kind": "SNV / small indel", "gene": "CBL", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 5.99, "altered": 199, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 3.17, "altered": 134, "tested": 4231, "note": null}]}, {"label": "CUX1", "kind": "SNV / small indel", "gene": "CUX1", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 5.66, "altered": 188, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 1.2, "altered": 43, "tested": 3598, "note": null}]}, {"label": "NF1", "kind": "SNV / small indel", "gene": "NF1", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 5.57, "altered": 185, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 2.67, "altered": 96, "tested": 3601, "note": null}]}, {"label": "SETBP1", "kind": "SNV / small indel", "gene": "SETBP1", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 5.39, "altered": 179, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 2.25, "altered": 51, "tested": 2265, "note": null}]}, {"label": "NRAS", "kind": "SNV / small indel", "gene": "NRAS", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 5.39, "altered": 179, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 11.63, "altered": 492, "tested": 4231, "note": null}]}, {"label": "KMT2C", "kind": "SNV / small indel", "gene": "KMT2C", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 5.03, "altered": 167, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 1.97, "altered": 71, "tested": 3601, "note": null}]}, {"label": "SRCAP", "kind": "SNV / small indel", "gene": "SRCAP", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 4.6, "altered": 153, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 0.58, "altered": 6, "tested": 1026, "note": null}]}, {"label": "NOTCH1", "kind": "SNV / small indel", "gene": "NOTCH1", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 4.06, "altered": 135, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 0.87, "altered": 37, "tested": 4231, "note": null}]}, {"label": "JAK2", "kind": "SNV / small indel", "gene": "JAK2", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 4.06, "altered": 135, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 7.94, "altered": 336, "tested": 4231, "note": null}]}, {"label": "EP300", "kind": "SNV / small indel", "gene": "EP300", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 3.91, "altered": 130, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 2.47, "altered": 89, "tested": 3601, "note": null}]}, {"label": "MGA", "kind": "SNV / small indel", "gene": "MGA", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 3.88, "altered": 129, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 0.49, "altered": 8, "tested": 1638, "note": null}]}, {"label": "KRAS", "kind": "SNV / small indel", "gene": "KRAS", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 3.76, "altered": 125, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 4.35, "altered": 184, "tested": 4231, "note": null}]}, {"label": "DDX41", "kind": "SNV / small indel", "gene": "DDX41", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 3.73, "altered": 124, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 0.78, "altered": 8, "tested": 1026, "note": null}]}, {"label": "YLPM1", "kind": "SNV / small indel", "gene": "YLPM1", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 3.61, "altered": 120, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 0.29, "altered": 3, "tested": 1026, "note": null}]}, {"label": "PHF6", "kind": "SNV / small indel", "gene": "PHF6", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 3.46, "altered": 115, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 2.65, "altered": 112, "tested": 4228, "note": null}]}, {"label": "KMT2A", "kind": "SNV / small indel", "gene": "KMT2A", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 3.4, "altered": 113, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 0.99, "altered": 42, "tested": 4231, "note": null}]}, {"label": "CREBBP", "kind": "SNV / small indel", "gene": "CREBBP", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 3.31, "altered": 110, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 1.14, "altered": 41, "tested": 3601, "note": null}]}, {"label": "IDH1", "kind": "SNV / small indel", "gene": "IDH1", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 3.28, "altered": 109, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 6.22, "altered": 263, "tested": 4231, "note": null}]}, {"label": "SMG1", "kind": "SNV / small indel", "gene": "SMG1", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 3.16, "altered": 105, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 0.61, "altered": 10, "tested": 1635, "note": null}]}, {"label": "NOTCH2", "kind": "SNV / small indel", "gene": "NOTCH2", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 3.16, "altered": 105, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 0.67, "altered": 11, "tested": 1638, "note": null}]}, {"label": "SH2B3", "kind": "SNV / small indel", "gene": "SH2B3", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 3.04, "altered": 101, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 0.53, "altered": 19, "tested": 3601, "note": null}]}, {"label": "ARID1A", "kind": "SNV / small indel", "gene": "ARID1A", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 3.01, "altered": 100, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 0.49, "altered": 8, "tested": 1638, "note": null}]}, {"label": "MPL", "kind": "SNV / small indel", "gene": "MPL", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 2.92, "altered": 97, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 1.11, "altered": 47, "tested": 4231, "note": null}]}, {"label": "SETD2", "kind": "SNV / small indel", "gene": "SETD2", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 2.89, "altered": 96, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 0.79, "altered": 13, "tested": 1638, "note": null}]}, {"label": "PHIP", "kind": "SNV / small indel", "gene": "PHIP", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 2.86, "altered": 95, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 0.97, "altered": 10, "tested": 1026, "note": null}]}, {"label": "ETNK1", "kind": "SNV / small indel", "gene": "ETNK1", "cells": [{"cohort": "mds_iwg_2022", "status": "observed", "frequency": 2.74, "altered": 91, "tested": 3323, "note": null}, {"cohort": "mds_mskcc_2020", "status": "observed", "frequency": 0.37, "altered": 6, "tested": 1635, "note": null}]}]}