{"disease": {"name": "Small intestine cancer", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "mixed"}, "updated_at": "2026-09-26", "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": "KRAS", "alteration_types": ["SNV / small indel", "amplification"], "altered": 71, "tested": 152, "frequency": 46.71, "cohort_count": 2, "frequency_range": {"min": 46.71, "max": 63.64}, "major_variants": ["G12D (n=21)", "G12V (n=17)", "G13D (n=13)", "G12C (n=7)", "A146T (n=4)"], "evidence_confidence": "low", "disease_relevance": "Curated target in the disease briefing.", "targetability": "FDA-recognised biomarker of drug response since 2009; eligibility is the absence of the alteration; 3 approved drugs. Label alteration: wild-type; G12C.", "approved_drugs_other_diseases": ["Cetuximab (Colorectal, 2009)", "Panitumumab (Colorectal, 2009)", "Sotorasib (NSCLC, 2021)"], "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 71/152 patients (46.71%).", "Without the 5 hypermutated patients: 70/147 (47.62%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled.", "KRAS is an FDA-recognised biomarker of drug response since 2009 (3 approved drugs). Frequency here is not evidence that this patient population is eligible."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 71, "tested": 152, "frequency": 46.71, "frequency_excl_hypermutated": 47.62, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 21, "tested": 33, "frequency": 63.64, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 71, "tested": 152, "frequency": 46.71, "is_mutation": true}, "fda_badge": {"gene": "KRAS", "label": "FDA, wild-type", "title": "FDA-recognised biomarker since 2009 — first approval Cetuximab (Colorectal, 2009). Alteration in the label: wild-type; G12C. Eligibility is the ABSENCE of the alteration.", "agnostic": false, "negative_selection": true, "first_year": 2009, "alterations": ["wild-type", "G12C"], "n_drugs": 3, "drugs": ["Cetuximab (Colorectal, 2009)", "Panitumumab (Colorectal, 2009)", "Sotorasib (NSCLC, 2021)"], "hrr_group": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TP53", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 82, "tested": 152, "frequency": 53.95, "cohort_count": 2, "frequency_range": {"min": 53.95, "max": 57.58}, "major_variants": ["R175H (n=8)", "G245S (n=7)", "R248Q (n=7)", "R273C (n=7)", "R282W (n=6)"], "evidence_confidence": "low", "disease_relevance": "Curated target in the disease briefing.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 82/152 patients (53.95%).", "Without the 5 hypermutated patients: 79/147 (53.74%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 82, "tested": 152, "frequency": 53.95, "frequency_excl_hypermutated": 53.74, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 19, "tested": 33, "frequency": 57.58, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 82, "tested": 152, "frequency": 53.95, "is_mutation": true}, "fda_badge": null, "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": "APC", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 48, "tested": 152, "frequency": 31.58, "cohort_count": 2, "frequency_range": {"min": 30.3, "max": 31.58}, "major_variants": ["T1556Nfs*3 (n=14)", "R1450* (n=6)", "E1464Vfs*8 (n=4)", "S1465Wfs*3 (n=4)", "R876* (n=4)"], "evidence_confidence": "low", "disease_relevance": "Curated target in the disease briefing.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 48/152 patients (31.58%).", "Without the 5 hypermutated patients: 44/147 (29.93%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 48, "tested": 152, "frequency": 31.58, "frequency_excl_hypermutated": 29.93, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 10, "tested": 33, "frequency": 30.3, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 48, "tested": 152, "frequency": 31.58, "is_mutation": true}, "fda_badge": null, "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": "SMAD4", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 27, "tested": 152, "frequency": 17.76, "cohort_count": 2, "frequency_range": {"min": 12.12, "max": 17.76}, "major_variants": ["R361H (n=2)", "Q245* (n=2)", "R361C (n=2)", "D351Y (n=2)", "S232Qfs*3 (n=1)"], "evidence_confidence": "low", "disease_relevance": "Curated target in the disease briefing.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 27/152 patients (17.76%).", "Without the 5 hypermutated patients: 26/147 (17.69%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 27, "tested": 152, "frequency": 17.76, "frequency_excl_hypermutated": 17.69, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 4, "tested": 33, "frequency": 12.12, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 40.4, "width": 18.8, "reference": 59.2, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 27, "tested": 152, "frequency": 17.76, "is_mutation": true}, "fda_badge": null, "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": "ERBB2", "alteration_types": ["SNV / small indel", "amplification"], "altered": 30, "tested": 152, "frequency": 19.74, "cohort_count": 2, "frequency_range": {"min": 12.12, "max": 19.74}, "major_variants": ["R678Q (n=8)", "V777L (n=8)", "S310Y (n=3)", "L755S (n=3)", "V842I (n=3)"], "evidence_confidence": "low", "disease_relevance": "Curated target in the disease briefing.", "targetability": "FDA-recognised biomarker of drug response since 1998; 9 approved drugs. Label alteration: amplification; oncogenic mutations.", "approved_drugs_other_diseases": ["Trastuzumab (Breast, 1998)", "Lapatinib (Breast, 2007)", "Trastuzumab (Gastric or GEJ, 2010)", "Pertuzumab + trastuzumab (Breast, 2012)", "Ado-trastuzumab emtansine (Breast, 2013)", "Neratinib (Breast, 2017)", "Trastuzumab deruxtecan (Breast, 2019)", "Margetuximab (Breast, 2020)", "Tucatinib + trastuzumab (Breast, 2020)", "Trastuzumab + pembrolizumab (Gastric or GEJ, 2021)", "Trastuzumab deruxtecan (Gastric or GEJ, 2021)", "Trastuzumab deruxtecan (NSCLC, 2022)"], "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 30/152 patients (19.74%).", "Without the 5 hypermutated patients: 26/147 (17.69%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled.", "ERBB2 is an FDA-recognised biomarker of drug response since 1998 (9 approved drugs). Frequency here is not evidence that this patient population is eligible."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 30, "tested": 152, "frequency": 19.74, "frequency_excl_hypermutated": 17.69, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 4, "tested": 33, "frequency": 12.12, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 40.4, "width": 25.4, "reference": 65.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 30, "tested": 152, "frequency": 19.74, "is_mutation": true}, "fda_badge": {"gene": "ERBB2", "label": "FDA biomarker", "title": "FDA-recognised biomarker since 1998 — first approval Trastuzumab (Breast, 1998). Alteration in the label: amplification; oncogenic mutations.", "agnostic": false, "negative_selection": false, "first_year": 1998, "alterations": ["amplification", "oncogenic mutations"], "n_drugs": 9, "drugs": ["Trastuzumab (Breast, 1998)", "Lapatinib (Breast, 2007)", "Trastuzumab (Gastric or GEJ, 2010)", "Pertuzumab + trastuzumab (Breast, 2012)", "Ado-trastuzumab emtansine (Breast, 2013)", "Neratinib (Breast, 2017)", "Trastuzumab deruxtecan (Breast, 2019)", "Margetuximab (Breast, 2020)", "Tucatinib + trastuzumab (Breast, 2020)", "Trastuzumab + pembrolizumab (Gastric or GEJ, 2021)", "Trastuzumab deruxtecan (Gastric or GEJ, 2021)", "Trastuzumab deruxtecan (NSCLC, 2022)"], "hrr_group": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "BRAF", "alteration_types": ["SNV / small indel"], "altered": 20, "tested": 152, "frequency": 13.16, "cohort_count": 2, "frequency_range": {"min": 12.12, "max": 13.16}, "major_variants": ["P403Lfs*8 (n=3)", "V600E (n=3)", "Q257R (n=2)", "N581Y (n=1)", "I572F (n=1)"], "evidence_confidence": "low", "disease_relevance": "Curated target in the disease briefing.", "targetability": "FDA-recognised biomarker of drug response since 2011; approved irrespective of primary site; 8 approved drugs. Label alteration: V600E (also V600K, V600).", "approved_drugs_other_diseases": ["Vemurafenib (Melanoma (V600E), 2011)", "Dabrafenib (Melanoma with BRAF V600E, 2013)", "Trametinib (Melanoma (V600E/K), 2013)", "Dabrafenib + trametinib (Melanoma (V600E/K), 2014)", "Vemurafenib + cobimetinib (Melanoma with BRAF V600E/K, 2015)", "Dabrafenib + trametinib (NSCLC (V600E), 2017)", "Vemurafenib (Erdheim-Chester disease (V600), 2017)", "Dabrafenib + trametinib (Anaplastic thyroid (V600E), 2018)", "Encorafenib + binimetinib (Melanoma with BRAF V600E/K, 2018)", "Atezolizumab + vemurafenib + cobimetinib (Melanoma (V600), 2020)", "Encorafenib + cetuximab (Colorectal (V600E), 2020)", "Dabrafenib + trametinib (All solid tumours (V600E), 2022)"], "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 20/152 patients (13.16%).", "Without the 5 hypermutated patients: 18/147 (12.24%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled.", "BRAF is an FDA-recognised biomarker of drug response since 2011 (8 approved drugs), irrespective of primary site. Frequency here is not evidence that this patient population is eligible."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 20, "tested": 152, "frequency": 13.16, "frequency_excl_hypermutated": 12.24, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 4, "tested": 33, "frequency": 12.12, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 40.4, "width": 3.47, "reference": 43.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 20, "tested": 152, "frequency": 13.16, "is_mutation": true}, "fda_badge": {"gene": "BRAF", "label": "FDA, tumour-agnostic", "title": "FDA-recognised biomarker since 2011 — first approval Vemurafenib (Melanoma (V600E), 2011). Alteration in the label: V600E (also V600K, V600). Approved irrespective of primary site.", "agnostic": true, "negative_selection": false, "first_year": 2011, "alterations": ["V600E (also V600K, V600)"], "n_drugs": 8, "drugs": ["Vemurafenib (Melanoma (V600E), 2011)", "Dabrafenib (Melanoma with BRAF V600E, 2013)", "Trametinib (Melanoma (V600E/K), 2013)", "Dabrafenib + trametinib (Melanoma (V600E/K), 2014)", "Vemurafenib + cobimetinib (Melanoma with BRAF V600E/K, 2015)", "Dabrafenib + trametinib (NSCLC (V600E), 2017)", "Vemurafenib (Erdheim-Chester disease (V600), 2017)", "Dabrafenib + trametinib (Anaplastic thyroid (V600E), 2018)", "Encorafenib + binimetinib (Melanoma with BRAF V600E/K, 2018)", "Atezolizumab + vemurafenib + cobimetinib (Melanoma (V600), 2020)", "Encorafenib + cetuximab (Colorectal (V600E), 2020)", "Dabrafenib + trametinib (All solid tumours (V600E), 2022)"], "hrr_group": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "KIT", "alteration_types": ["SNV / small indel"], "altered": 4, "tested": 152, "frequency": 2.63, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 2.63}, "major_variants": ["P61L (n=1)", "Q775H (n=1)", "V532I (n=1)", "V950M (n=1)"], "evidence_confidence": "low", "disease_relevance": "Curated target in the disease briefing.", "targetability": "FDA-recognised biomarker of drug response since 2002; 5 approved drugs. Label alteration: oncogenic mutations; D816.", "approved_drugs_other_diseases": ["Imatinib (GIST, 2002)", "Sunitinib (GIST, 2006)", "Regorafenib (GIST, 2013)", "Ripretinib (GIST, 2020)", "Avapritinib (Advanced systemic mastocytosis, 2021)"], "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 4/152 patients (2.63%).", "Without the 5 hypermutated patients: 4/147 (2.72%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled.", "KIT is an FDA-recognised biomarker of drug response since 2002 (5 approved drugs). Frequency here is not evidence that this patient population is eligible."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 4, "tested": 152, "frequency": 2.63, "frequency_excl_hypermutated": 2.72, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 0, "tested": 33, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 8.77, "reference": 8.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 152, "frequency": 2.63, "is_mutation": true}, "fda_badge": {"gene": "KIT", "label": "FDA biomarker", "title": "FDA-recognised biomarker since 2002 — first approval Imatinib (GIST, 2002). Alteration in the label: oncogenic mutations; D816.", "agnostic": false, "negative_selection": false, "first_year": 2002, "alterations": ["oncogenic mutations", "D816"], "n_drugs": 5, "drugs": ["Imatinib (GIST, 2002)", "Sunitinib (GIST, 2006)", "Regorafenib (GIST, 2013)", "Ripretinib (GIST, 2020)", "Avapritinib (Advanced systemic mastocytosis, 2021)"], "hrr_group": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PDGFRA", "alteration_types": ["SNV / small indel"], "altered": 8, "tested": 152, "frequency": 5.26, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 5.26}, "major_variants": ["V224M (n=2)", "N1038S (n=1)", "G2R (n=1)", "R558H (n=1)", "T276M (n=1)"], "evidence_confidence": "low", "disease_relevance": "Curated target in the disease briefing.", "targetability": "FDA-recognised biomarker of drug response since 2006; 2 approved drugs. Label alteration: fusions; FIP1L1-PDGFRA fusion; exon 18 mutations.", "approved_drugs_other_diseases": ["Imatinib (MDS/MPN, 2006)", "Imatinib (Chronic eosinophilic leukaemia, 2006)", "Avapritinib (GIST, 2020)"], "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 8/152 patients (5.26%).", "Without the 5 hypermutated patients: 7/147 (4.76%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled.", "PDGFRA is an FDA-recognised biomarker of drug response since 2006 (2 approved drugs). Frequency here is not evidence that this patient population is eligible."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 8, "tested": 152, "frequency": 5.26, "frequency_excl_hypermutated": 4.76, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 0, "tested": 33, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 17.53, "reference": 17.53, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 8, "tested": 152, "frequency": 5.26, "is_mutation": true}, "fda_badge": {"gene": "PDGFRA", "label": "FDA biomarker", "title": "FDA-recognised biomarker since 2006 — first approval Imatinib (MDS/MPN, 2006). Alteration in the label: fusions; FIP1L1-PDGFRA fusion; exon 18 mutations.", "agnostic": false, "negative_selection": false, "first_year": 2006, "alterations": ["fusions", "FIP1L1-PDGFRA fusion", "exon 18 mutations"], "n_drugs": 2, "drugs": ["Imatinib (MDS/MPN, 2006)", "Imatinib (Chronic eosinophilic leukaemia, 2006)", "Avapritinib (GIST, 2020)"], "hrr_group": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "MEN1", "alteration_types": ["SNV / small indel"], "altered": 6, "tested": 152, "frequency": 3.95, "cohort_count": 2, "frequency_range": {"min": 3.03, "max": 3.95}, "major_variants": ["A465T (n=1)", "V19A (n=1)", "G111Vfs*8 (n=1)", "R452Q (n=1)", "R415Q (n=1)"], "evidence_confidence": "low", "disease_relevance": "Curated target in the disease briefing.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 6/152 patients (3.95%).", "Without the 5 hypermutated patients: 5/147 (3.4%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 6, "tested": 152, "frequency": 3.95, "frequency_excl_hypermutated": 3.4, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 1, "tested": 33, "frequency": 3.03, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.1, "width": 3.07, "reference": 13.17, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 152, "frequency": 3.95, "is_mutation": true}, "fda_badge": null, "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": "CDKN1B", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 3, "tested": 152, "frequency": 1.97, "cohort_count": 2, "frequency_range": {"min": 1.97, "max": 3.03}, "major_variants": ["R93Afs*32 (n=1)", "P26Afs*99 (n=1)", "K73Qfs*52 (n=1)"], "evidence_confidence": "low", "disease_relevance": "Curated target in the disease briefing.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 3/152 patients (1.97%).", "Without the 5 hypermutated patients: 3/147 (2.04%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 3, "tested": 152, "frequency": 1.97, "frequency_excl_hypermutated": 2.04, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 1, "tested": 33, "frequency": 3.03, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 6.57, "width": 3.53, "reference": 6.57, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 152, "frequency": 1.97, "is_mutation": true}, "fda_badge": null, "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": "SSTR2", "alteration_types": [], "altered": null, "tested": null, "frequency": null, "cohort_count": 0, "frequency_range": {"min": null, "max": null}, "major_variants": [], "evidence_confidence": "low", "disease_relevance": "Curated target in the disease briefing.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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": ["Observed in 0 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": null, "headline_alteration": {"kind": "SNV / small indel", "altered": 0, "tested": null, "frequency": 0.0, "is_mutation": true}, "fda_badge": null, "altered_status": "not_assayed", "altered_unit": "patients", "tested_status": "not_assayed", "tested_unit": "patients", "frequency_status": "not_assayed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "MTOR", "alteration_types": ["SNV / small indel", "amplification"], "altered": 12, "tested": 152, "frequency": 7.89, "cohort_count": 2, "frequency_range": {"min": 6.06, "max": 7.89}, "major_variants": ["R1538W (n=1)", "V661I (n=1)", "R1201* (n=1)", "V75I (n=1)", "Q1495H (n=1)"], "evidence_confidence": "low", "disease_relevance": "Curated target in the disease briefing.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 12/152 patients (7.89%).", "Without the 5 hypermutated patients: 9/147 (6.12%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 12, "tested": 152, "frequency": 7.89, "frequency_excl_hypermutated": 6.12, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 2, "tested": 33, "frequency": 6.06, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 20.2, "width": 6.1, "reference": 26.3, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 12, "tested": 152, "frequency": 7.89, "is_mutation": true}, "fda_badge": null, "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": "KMT2D", "alteration_types": ["SNV / small indel"], "altered": 34, "tested": 152, "frequency": 22.37, "cohort_count": 2, "frequency_range": {"min": 15.15, "max": 22.37}, "major_variants": ["T1195Hfs*17 (n=2)", "P2354Lfs*30 (n=2)", "P648Tfs*2 (n=2)", "R1757* (n=2)", "A781T (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 34/152 patients (22.37%).", "Without the 5 hypermutated patients: 29/147 (19.73%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 34, "tested": 152, "frequency": 22.37, "frequency_excl_hypermutated": 19.73, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 5, "tested": 33, "frequency": 15.15, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 50.5, "width": 24.07, "reference": 74.57, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 34, "tested": 152, "frequency": 22.37, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PIK3CA", "alteration_types": ["SNV / small indel"], "altered": 32, "tested": 152, "frequency": 21.05, "cohort_count": 2, "frequency_range": {"min": 3.03, "max": 21.05}, "major_variants": ["E545K (n=8)", "H1047R (n=5)", "R88Q (n=3)", "C420R (n=3)", "E542K (n=2)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "FDA-recognised biomarker of drug response since 2019; 1 approved drug. Label alteration: E542K, E545D, E545K, E545G, E545A, H1047R, H1047L, H1047Y, C420R, Q546E, Q546R.", "approved_drugs_other_diseases": ["Alpelisib (Breast, 2019)"], "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 32/152 patients (21.05%).", "Without the 5 hypermutated patients: 29/147 (19.73%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled.", "PIK3CA is an FDA-recognised biomarker of drug response since 2019 (1 approved drug). Frequency here is not evidence that this patient population is eligible."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 32, "tested": 152, "frequency": 21.05, "frequency_excl_hypermutated": 19.73, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 1, "tested": 33, "frequency": 3.03, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.1, "width": 60.07, "reference": 70.17, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 32, "tested": 152, "frequency": 21.05, "is_mutation": true}, "fda_badge": {"gene": "PIK3CA", "label": "FDA biomarker", "title": "FDA-recognised biomarker since 2019 — first approval Alpelisib (Breast, 2019). Alteration in the label: E542K, E545D, E545K, E545G, E545A, H1047R, H1047L, H1047Y, C420R, Q546E, Q546R.", "agnostic": false, "negative_selection": false, "first_year": 2019, "alterations": ["E542K, E545D, E545K, E545G, E545A, H1047R, H1047L, H1047Y, C420R, Q546E, Q546R"], "n_drugs": 1, "drugs": ["Alpelisib (Breast, 2019)"], "hrr_group": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ATM", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 29, "tested": 152, "frequency": 19.08, "cohort_count": 2, "frequency_range": {"min": 18.18, "max": 19.08}, "major_variants": ["X1095_splice (n=2)", "E2444K (n=1)", "S2489F (n=1)", "R1898* (n=1)", "F2393S (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "FDA-recognised biomarker of drug response since 2020; one of the homologous-recombination-repair genes on a single olaparib label; 1 approved drug. Label alteration: oncogenic mutations.", "approved_drugs_other_diseases": ["Olaparib (mCRPC, 2020)"], "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 29/152 patients (19.08%).", "Without the 5 hypermutated patients: 27/147 (18.37%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled.", "ATM is an FDA-recognised biomarker of drug response since 2020 (1 approved drug). Frequency here is not evidence that this patient population is eligible."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 29, "tested": 152, "frequency": 19.08, "frequency_excl_hypermutated": 18.37, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 6, "tested": 33, "frequency": 18.18, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 60.6, "width": 3.0, "reference": 63.6, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 29, "tested": 152, "frequency": 19.08, "is_mutation": true}, "fda_badge": {"gene": "ATM", "label": "FDA biomarker", "title": "FDA-recognised biomarker since 2020 — first approval Olaparib (mCRPC, 2020). Alteration in the label: oncogenic mutations.", "agnostic": false, "negative_selection": false, "first_year": 2020, "alterations": ["oncogenic mutations"], "n_drugs": 1, "drugs": ["Olaparib (mCRPC, 2020)"], "hrr_group": 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": 29, "tested": 152, "frequency": 19.08, "cohort_count": 2, "frequency_range": {"min": 6.06, "max": 19.08}, "major_variants": ["D1850Tfs*33 (n=3)", "K327* (n=2)", "Q758Rfs*75 (n=1)", "S536Lfs*87 (n=1)", "E49Gfs*62 (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 29/152 patients (19.08%).", "Without the 5 hypermutated patients: 25/147 (17.01%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 29, "tested": 152, "frequency": 19.08, "frequency_excl_hypermutated": 17.01, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 2, "tested": 33, "frequency": 6.06, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 20.2, "width": 43.4, "reference": 63.6, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 29, "tested": 152, "frequency": 19.08, "is_mutation": true}, "fda_badge": null, "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": "ERBB3", "alteration_types": ["SNV / small indel"], "altered": 26, "tested": 152, "frequency": 17.11, "cohort_count": 2, "frequency_range": {"min": 15.15, "max": 17.11}, "major_variants": ["V104M (n=7)", "G284R (n=5)", "G325R (n=3)", "G337R (n=1)", "A232V (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 26/152 patients (17.11%).", "Without the 5 hypermutated patients: 23/147 (15.65%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 26, "tested": 152, "frequency": 17.11, "frequency_excl_hypermutated": 15.65, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 5, "tested": 33, "frequency": 15.15, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 50.5, "width": 6.53, "reference": 57.03, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 26, "tested": 152, "frequency": 17.11, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ZFHX3", "alteration_types": ["SNV / small indel"], "altered": 24, "tested": 142, "frequency": 16.9, "cohort_count": 2, "frequency_range": {"min": 8.7, "max": 16.9}, "major_variants": ["Q3197Sfs*44 (n=2)", "T2859M (n=1)", "E763Gfs*26 (n=1)", "R1893Gfs*35 (n=1)", "A564V (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 24/142 patients (16.9%).", "Without the 5 hypermutated patients: 21/137 (15.33%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 24, "tested": 142, "frequency": 16.9, "frequency_excl_hypermutated": 15.33, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 2, "tested": 23, "frequency": 8.7, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 29.0, "width": 27.33, "reference": 56.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 24, "tested": 142, "frequency": 16.9, "is_mutation": true}, "fda_badge": null, "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": "SOX9", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 22, "tested": 152, "frequency": 14.47, "cohort_count": 2, "frequency_range": {"min": 14.47, "max": 15.15}, "major_variants": ["V306Cfs*77 (n=3)", "L81P (n=2)", "P103Afs*149 (n=1)", "S449Tfs*22 (n=1)", "Q312* (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 22/152 patients (14.47%).", "Without the 5 hypermutated patients: 20/147 (13.61%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 22, "tested": 152, "frequency": 14.47, "frequency_excl_hypermutated": 13.61, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 5, "tested": 33, "frequency": 15.15, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 48.23, "width": 2.27, "reference": 48.23, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 22, "tested": 152, "frequency": 14.47, "is_mutation": true}, "fda_badge": null, "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": "ARID2", "alteration_types": ["SNV / small indel"], "altered": 22, "tested": 152, "frequency": 14.47, "cohort_count": 2, "frequency_range": {"min": 6.06, "max": 14.47}, "major_variants": ["S1476F (n=1)", "Q1112* (n=1)", "I199Sfs*16 (n=1)", "R285Q (n=1)", "F1615C (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 22/152 patients (14.47%).", "Without the 5 hypermutated patients: 21/147 (14.29%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 22, "tested": 152, "frequency": 14.47, "frequency_excl_hypermutated": 14.29, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 2, "tested": 33, "frequency": 6.06, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 20.2, "width": 28.03, "reference": 48.23, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 22, "tested": 152, "frequency": 14.47, "is_mutation": true}, "fda_badge": null, "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": "KMT2B", "alteration_types": ["SNV / small indel", "amplification"], "altered": 21, "tested": 113, "frequency": 18.58, "cohort_count": 1, "frequency_range": {"min": 18.58, "max": 18.58}, "major_variants": ["P1101Lfs*81 (n=2)", "P174Qfs*20 (n=2)", "T176Dfs*8 (n=2)", "R479Q (n=1)", "H1273R (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 21/113 patients (18.58%).", "Without the 5 hypermutated patients: 16/108 (14.81%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 21, "tested": 113, "frequency": 18.58, "frequency_excl_hypermutated": 14.81, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 61.93, "width": 1.0, "reference": 61.93, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 21, "tested": 113, "frequency": 18.58, "is_mutation": true}, "fda_badge": null, "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": "CTNNB1", "alteration_types": ["SNV / small indel"], "altered": 21, "tested": 152, "frequency": 13.82, "cohort_count": 2, "frequency_range": {"min": 9.09, "max": 13.82}, "major_variants": ["S37F (n=3)", "S45F (n=3)", "X18_splice (n=2)", "X13_splice (n=2)", "L644P (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 21/152 patients (13.82%).", "Without the 5 hypermutated patients: 20/147 (13.61%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 21, "tested": 152, "frequency": 13.82, "frequency_excl_hypermutated": 13.61, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 3, "tested": 33, "frequency": 9.09, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 30.3, "width": 15.77, "reference": 46.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 21, "tested": 152, "frequency": 13.82, "is_mutation": true}, "fda_badge": null, "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": "TGFBR2", "alteration_types": ["SNV / small indel"], "altered": 20, "tested": 152, "frequency": 13.16, "cohort_count": 2, "frequency_range": {"min": 6.06, "max": 13.16}, "major_variants": ["R528H (n=4)", "K128Afs*3 (n=3)", "R528C (n=2)", "D446N (n=2)", "A426V (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 20/152 patients (13.16%).", "Without the 5 hypermutated patients: 17/147 (11.56%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 20, "tested": 152, "frequency": 13.16, "frequency_excl_hypermutated": 11.56, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 2, "tested": 33, "frequency": 6.06, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 20.2, "width": 23.67, "reference": 43.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 20, "tested": 152, "frequency": 13.16, "is_mutation": true}, "fda_badge": null, "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": "NOTCH1", "alteration_types": ["SNV / small indel"], "altered": 19, "tested": 152, "frequency": 12.5, "cohort_count": 2, "frequency_range": {"min": 6.06, "max": 12.5}, "major_variants": ["P55L (n=2)", "R504C (n=1)", "P1728L (n=1)", "V1260M (n=1)", "R2179W (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 19/152 patients (12.5%).", "Without the 5 hypermutated patients: 15/147 (10.2%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 19, "tested": 152, "frequency": 12.5, "frequency_excl_hypermutated": 10.2, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 2, "tested": 33, "frequency": 6.06, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 20.2, "width": 21.47, "reference": 41.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 19, "tested": 152, "frequency": 12.5, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "NF1", "alteration_types": ["SNV / small indel"], "altered": 19, "tested": 152, "frequency": 12.5, "cohort_count": 2, "frequency_range": {"min": 12.12, "max": 12.5}, "major_variants": ["R2616Q (n=2)", "H2571P (n=2)", "I679Dfs*21 (n=2)", "R1276* (n=1)", "F945Lfs*9 (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "FDA-recognised biomarker of drug response since 2020; 1 approved drug. Label alteration: oncogenic mutations.", "approved_drugs_other_diseases": ["Selumetinib (Plexiform neurofibroma, 2020)"], "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 19/152 patients (12.5%).", "Without the 5 hypermutated patients: 15/147 (10.2%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled.", "NF1 is an FDA-recognised biomarker of drug response since 2020 (1 approved drug). Frequency here is not evidence that this patient population is eligible."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 19, "tested": 152, "frequency": 12.5, "frequency_excl_hypermutated": 10.2, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 4, "tested": 33, "frequency": 12.12, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 40.4, "width": 1.27, "reference": 41.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 19, "tested": 152, "frequency": 12.5, "is_mutation": true}, "fda_badge": {"gene": "NF1", "label": "FDA biomarker", "title": "FDA-recognised biomarker since 2020 — first approval Selumetinib (Plexiform neurofibroma, 2020). Alteration in the label: oncogenic mutations.", "agnostic": false, "negative_selection": false, "first_year": 2020, "alterations": ["oncogenic mutations"], "n_drugs": 1, "drugs": ["Selumetinib (Plexiform neurofibroma, 2020)"], "hrr_group": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "CREBBP", "alteration_types": ["SNV / small indel", "amplification"], "altered": 18, "tested": 152, "frequency": 11.84, "cohort_count": 2, "frequency_range": {"min": 3.03, "max": 11.84}, "major_variants": ["P1946Hfs*30 (n=2)", "I1084Sfs*15 (n=2)", "A1782V (n=1)", "G2306V (n=1)", "H1712Y (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 18/152 patients (11.84%).", "Without the 5 hypermutated patients: 14/147 (9.52%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 18, "tested": 152, "frequency": 11.84, "frequency_excl_hypermutated": 9.52, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 1, "tested": 33, "frequency": 3.03, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.1, "width": 29.37, "reference": 39.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 18, "tested": 152, "frequency": 11.84, "is_mutation": true}, "fda_badge": null, "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": "RNF43", "alteration_types": ["SNV / small indel", "amplification"], "altered": 17, "tested": 152, "frequency": 11.18, "cohort_count": 2, "frequency_range": {"min": 3.03, "max": 11.18}, "major_variants": ["G659Vfs*41 (n=8)", "R117Afs*41 (n=2)", "D196Mfs*2 (n=1)", "P691A (n=1)", "M313_F314ins* (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 17/152 patients (11.18%).", "Without the 5 hypermutated patients: 13/147 (8.84%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 17, "tested": 152, "frequency": 11.18, "frequency_excl_hypermutated": 8.84, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 1, "tested": 33, "frequency": 3.03, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.1, "width": 27.17, "reference": 37.27, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 17, "tested": 152, "frequency": 11.18, "is_mutation": true}, "fda_badge": null, "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": "PTPRS", "alteration_types": ["SNV / small indel"], "altered": 17, "tested": 152, "frequency": 11.18, "cohort_count": 2, "frequency_range": {"min": 6.06, "max": 11.18}, "major_variants": ["P622Lfs*16 (n=2)", "V1025Sfs*18 (n=2)", "P1845L (n=2)", "A1828T (n=1)", "G114V (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 17/152 patients (11.18%).", "Without the 5 hypermutated patients: 12/147 (8.16%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 17, "tested": 152, "frequency": 11.18, "frequency_excl_hypermutated": 8.16, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 2, "tested": 33, "frequency": 6.06, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 20.2, "width": 17.07, "reference": 37.27, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 17, "tested": 152, "frequency": 11.18, "is_mutation": true}, "fda_badge": null, "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": "NSD1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 17, "tested": 152, "frequency": 11.18, "cohort_count": 2, "frequency_range": {"min": 6.06, "max": 11.18}, "major_variants": ["M1531Cfs*43 (n=2)", "D1522N (n=1)", "G2383D (n=1)", "K1604* (n=1)", "A855T (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 17/152 patients (11.18%).", "Without the 5 hypermutated patients: 13/147 (8.84%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 17, "tested": 152, "frequency": 11.18, "frequency_excl_hypermutated": 8.84, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 2, "tested": 33, "frequency": 6.06, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 20.2, "width": 17.07, "reference": 37.27, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 17, "tested": 152, "frequency": 11.18, "is_mutation": true}, "fda_badge": null, "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": "NOTCH3", "alteration_types": ["SNV / small indel"], "altered": 16, "tested": 152, "frequency": 10.53, "cohort_count": 2, "frequency_range": {"min": 6.06, "max": 10.53}, "major_variants": ["Q923_D924insE (n=2)", "G821D (n=1)", "G1228R (n=1)", "A2233Gfs*9 (n=1)", "A1775T (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 16/152 patients (10.53%).", "Without the 5 hypermutated patients: 13/147 (8.84%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 16, "tested": 152, "frequency": 10.53, "frequency_excl_hypermutated": 8.84, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 2, "tested": 33, "frequency": 6.06, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 20.2, "width": 14.9, "reference": 35.1, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 16, "tested": 152, "frequency": 10.53, "is_mutation": true}, "fda_badge": null, "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": "FBXW7", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 16, "tested": 152, "frequency": 10.53, "cohort_count": 2, "frequency_range": {"min": 10.53, "max": 15.15}, "major_variants": ["R465H (n=4)", "R465C (n=2)", "R505C (n=2)", "R479Q (n=1)", "Q221* (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 16/152 patients (10.53%).", "Without the 5 hypermutated patients: 15/147 (10.2%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 16, "tested": 152, "frequency": 10.53, "frequency_excl_hypermutated": 10.2, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 5, "tested": 33, "frequency": 15.15, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 35.1, "width": 15.4, "reference": 35.1, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 16, "tested": 152, "frequency": 10.53, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "FAT1", "alteration_types": ["SNV / small indel"], "altered": 16, "tested": 152, "frequency": 10.53, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 10.53}, "major_variants": ["V1878Cfs*8 (n=2)", "P1877Lfs*20 (n=1)", "V1043A (n=1)", "T1585M (n=1)", "A1995V (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 16/152 patients (10.53%).", "Without the 5 hypermutated patients: 13/147 (8.84%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 16, "tested": 152, "frequency": 10.53, "frequency_excl_hypermutated": 8.84, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 0, "tested": 33, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 35.1, "reference": 35.1, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 16, "tested": 152, "frequency": 10.53, "is_mutation": true}, "fda_badge": null, "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": "AMER1", "alteration_types": ["SNV / small indel"], "altered": 16, "tested": 152, "frequency": 10.53, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 10.53}, "major_variants": ["F173Lfs*36 (n=3)", "S749* (n=1)", "N825I (n=1)", "S749Ifs*4 (n=1)", "E389K (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 16/152 patients (10.53%).", "Without the 5 hypermutated patients: 14/147 (9.52%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 16, "tested": 152, "frequency": 10.53, "frequency_excl_hypermutated": 9.52, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 0, "tested": 33, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 35.1, "reference": 35.1, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 16, "tested": 152, "frequency": 10.53, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "KMT2C", "alteration_types": ["SNV / small indel"], "altered": 15, "tested": 152, "frequency": 9.87, "cohort_count": 2, "frequency_range": {"min": 3.03, "max": 9.87}, "major_variants": ["F4496Lfs*21 (n=3)", "K2797Rfs*26 (n=2)", "Q4534H (n=1)", "G2706E (n=1)", "R3612Efs*5 (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 15/152 patients (9.87%).", "Without the 5 hypermutated patients: 12/147 (8.16%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 15, "tested": 152, "frequency": 9.87, "frequency_excl_hypermutated": 8.16, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 1, "tested": 33, "frequency": 3.03, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.1, "width": 22.8, "reference": 32.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 15, "tested": 152, "frequency": 9.87, "is_mutation": true}, "fda_badge": null, "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": "BRCA2", "alteration_types": ["SNV / small indel", "amplification"], "altered": 15, "tested": 152, "frequency": 9.87, "cohort_count": 2, "frequency_range": {"min": 3.03, "max": 9.87}, "major_variants": ["N1784Tfs*7 (n=2)", "I605Yfs*9 (n=2)", "Q1429Sfs*9 (n=2)", "C2535S (n=1)", "K3416Nfs*11 (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "FDA-recognised biomarker of drug response since 2014; 1 approved drug. Label alteration: oncogenic mutations.", "approved_drugs_other_diseases": ["Olaparib (Ovarian, 2014)", "Olaparib (Breast, 2018)", "Olaparib (Pancreatic, 2019)", "Olaparib (mCRPC, 2020)"], "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 15/152 patients (9.87%).", "Without the 5 hypermutated patients: 12/147 (8.16%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled.", "BRCA2 is an FDA-recognised biomarker of drug response since 2014 (1 approved drug). Frequency here is not evidence that this patient population is eligible."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 15, "tested": 152, "frequency": 9.87, "frequency_excl_hypermutated": 8.16, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 1, "tested": 33, "frequency": 3.03, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.1, "width": 22.8, "reference": 32.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 15, "tested": 152, "frequency": 9.87, "is_mutation": true}, "fda_badge": {"gene": "BRCA2", "label": "FDA biomarker", "title": "FDA-recognised biomarker since 2014 — first approval Olaparib (Ovarian, 2014). Alteration in the label: oncogenic mutations.", "agnostic": false, "negative_selection": false, "first_year": 2014, "alterations": ["oncogenic mutations"], "n_drugs": 1, "drugs": ["Olaparib (Ovarian, 2014)", "Olaparib (Breast, 2018)", "Olaparib (Pancreatic, 2019)", "Olaparib (mCRPC, 2020)"], "hrr_group": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "SMARCA4", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 14, "tested": 152, "frequency": 9.21, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 9.21}, "major_variants": ["A945T (n=2)", "G883C (n=1)", "M1109Tfs*4 (n=1)", "R370H (n=1)", "R1135W (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 14/152 patients (9.21%).", "Without the 5 hypermutated patients: 11/147 (7.48%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 14, "tested": 152, "frequency": 9.21, "frequency_excl_hypermutated": 7.48, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 0, "tested": 33, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 30.7, "reference": 30.7, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 14, "tested": 152, "frequency": 9.21, "is_mutation": true}, "fda_badge": null, "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": "PTPRT", "alteration_types": ["SNV / small indel", "amplification"], "altered": 14, "tested": 152, "frequency": 9.21, "cohort_count": 2, "frequency_range": {"min": 9.09, "max": 9.21}, "major_variants": ["R1349H (n=1)", "T1431A (n=1)", "G575V (n=1)", "R247H (n=1)", "R453C (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 14/152 patients (9.21%).", "Without the 5 hypermutated patients: 11/147 (7.48%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 14, "tested": 152, "frequency": 9.21, "frequency_excl_hypermutated": 7.48, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 3, "tested": 33, "frequency": 9.09, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 30.3, "width": 1.0, "reference": 30.7, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 14, "tested": 152, "frequency": 9.21, "is_mutation": true}, "fda_badge": null, "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": "POLE", "alteration_types": ["SNV / small indel"], "altered": 14, "tested": 152, "frequency": 9.21, "cohort_count": 2, "frequency_range": {"min": 9.09, "max": 9.21}, "major_variants": ["K1374T (n=1)", "Y2151C (n=1)", "L2059F (n=1)", "R1485H (n=1)", "S297F (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 14/152 patients (9.21%).", "Without the 5 hypermutated patients: 11/147 (7.48%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 14, "tested": 152, "frequency": 9.21, "frequency_excl_hypermutated": 7.48, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 3, "tested": 33, "frequency": 9.09, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 30.3, "width": 1.0, "reference": 30.7, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 14, "tested": 152, "frequency": 9.21, "is_mutation": true}, "fda_badge": null, "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": "POLD1", "alteration_types": ["SNV / small indel"], "altered": 14, "tested": 142, "frequency": 9.86, "cohort_count": 2, "frequency_range": {"min": 8.7, "max": 9.86}, "major_variants": ["P116Hfs*53 (n=2)", "E579K (n=2)", "V861A (n=1)", "R443W (n=1)", "L463P (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 14/142 patients (9.86%).", "Without the 5 hypermutated patients: 10/137 (7.3%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 14, "tested": 142, "frequency": 9.86, "frequency_excl_hypermutated": 7.3, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 2, "tested": 23, "frequency": 8.7, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 29.0, "width": 3.87, "reference": 32.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 14, "tested": 142, "frequency": 9.86, "is_mutation": true}, "fda_badge": null, "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": "MED12", "alteration_types": ["SNV / small indel"], "altered": 14, "tested": 152, "frequency": 9.21, "cohort_count": 2, "frequency_range": {"min": 3.03, "max": 9.21}, "major_variants": ["V24G (n=1)", "T1172A (n=1)", "K1785del (n=1)", "R2156W (n=1)", "G44dup (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 14/152 patients (9.21%).", "Without the 5 hypermutated patients: 12/147 (8.16%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 14, "tested": 152, "frequency": 9.21, "frequency_excl_hypermutated": 8.16, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 1, "tested": 33, "frequency": 3.03, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.1, "width": 20.6, "reference": 30.7, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 14, "tested": 152, "frequency": 9.21, "is_mutation": true}, "fda_badge": null, "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": "IRS2", "alteration_types": ["SNV / small indel"], "altered": 14, "tested": 152, "frequency": 9.21, "cohort_count": 2, "frequency_range": {"min": 6.06, "max": 9.21}, "major_variants": ["N28dup (n=2)", "P614L (n=1)", "R1137H (n=1)", "P461L (n=1)", "R1144Pfs*181 (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 14/152 patients (9.21%).", "Without the 5 hypermutated patients: 10/147 (6.8%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 14, "tested": 152, "frequency": 9.21, "frequency_excl_hypermutated": 6.8, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 2, "tested": 33, "frequency": 6.06, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 20.2, "width": 10.5, "reference": 30.7, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 14, "tested": 152, "frequency": 9.21, "is_mutation": true}, "fda_badge": null, "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": "INPPL1", "alteration_types": ["SNV / small indel"], "altered": 14, "tested": 113, "frequency": 12.39, "cohort_count": 1, "frequency_range": {"min": 12.39, "max": 12.39}, "major_variants": ["R1156Gfs*46 (n=4)", "R1156Pfs*59 (n=3)", "S656del (n=1)", "R90C (n=1)", "Q287* (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 14/113 patients (12.39%).", "Without the 5 hypermutated patients: 11/108 (10.19%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 14, "tested": 113, "frequency": 12.39, "frequency_excl_hypermutated": 10.19, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 41.3, "width": 1.0, "reference": 41.3, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 14, "tested": 113, "frequency": 12.39, "is_mutation": true}, "fda_badge": null, "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": "ESR1", "alteration_types": ["SNV / small indel"], "altered": 14, "tested": 152, "frequency": 9.21, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 9.21}, "major_variants": ["T311M (n=2)", "A551V (n=2)", "I326M (n=1)", "E247K (n=1)", "E22Gfs*5 (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 14/152 patients (9.21%).", "Without the 5 hypermutated patients: 13/147 (8.84%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 14, "tested": 152, "frequency": 9.21, "frequency_excl_hypermutated": 8.84, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 0, "tested": 33, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 30.7, "reference": 30.7, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 14, "tested": 152, "frequency": 9.21, "is_mutation": true}, "fda_badge": null, "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": "EPHB1", "alteration_types": ["SNV / small indel"], "altered": 14, "tested": 152, "frequency": 9.21, "cohort_count": 2, "frequency_range": {"min": 9.09, "max": 9.21}, "major_variants": ["S761F (n=1)", "C758Y (n=1)", "M818V (n=1)", "P845Hfs*34 (n=1)", "M925L (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 14/152 patients (9.21%).", "Without the 5 hypermutated patients: 13/147 (8.84%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 14, "tested": 152, "frequency": 9.21, "frequency_excl_hypermutated": 8.84, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 3, "tested": 33, "frequency": 9.09, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 30.3, "width": 1.0, "reference": 30.7, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 14, "tested": 152, "frequency": 9.21, "is_mutation": true}, "fda_badge": null, "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": "CIC", "alteration_types": ["SNV / small indel", "amplification"], "altered": 14, "tested": 152, "frequency": 9.21, "cohort_count": 2, "frequency_range": {"min": 3.03, "max": 9.21}, "major_variants": ["P1146Qfs*15 (n=2)", "Q1054* (n=1)", "A652Pfs*76 (n=1)", "P1597Hfs*23 (n=1)", "M593I (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 14/152 patients (9.21%).", "Without the 5 hypermutated patients: 11/147 (7.48%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 14, "tested": 152, "frequency": 9.21, "frequency_excl_hypermutated": 7.48, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 1, "tested": 33, "frequency": 3.03, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.1, "width": 20.6, "reference": 30.7, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 14, "tested": 152, "frequency": 9.21, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "SPEN", "alteration_types": ["SNV / small indel"], "altered": 13, "tested": 152, "frequency": 8.55, "cohort_count": 2, "frequency_range": {"min": 6.06, "max": 8.55}, "major_variants": ["R206H (n=1)", "R1529H (n=1)", "L1407Yfs*2 (n=1)", "A1943V (n=1)", "L913M (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "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.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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: MSK-IMPACT 50K, small bowel carcinoma subset (2026), 13/152 patients (8.55%).", "Without the 5 hypermutated patients: 10/147 (6.8%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "altered": 13, "tested": 152, "frequency": 8.55, "frequency_excl_hypermutated": 6.8, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "161/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, small bowel carcinoma subset", "altered": 2, "tested": 33, "frequency": 6.06, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "33/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 20.2, "width": 8.3, "reference": 28.5, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 13, "tested": 152, "frequency": 8.55, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}], "variants": [], "genomic_events": [{"event_type": "copy_number", "gene": "SMAD4", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "SMAD4 deep deletion", "genomic_coordinate": null, "observed": 3, "observed_status": "observed", "observed_unit": "patients", "tested": 33, "tested_status": "observed", "tested_unit": "patients", "frequency": 9.09, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["msk_impact_2017"], "source_ids": ["msk_impact_2017_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "SMAD4", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "SMAD4 deep deletion", "genomic_coordinate": null, "observed": 8, "observed_status": "observed", "observed_unit": "patients", "tested": 152, "tested_status": "observed", "tested_unit": "patients", "frequency": 5.26, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["msk_impact_50k_2026"], "source_ids": ["msk_impact_50k_2026_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "ERBB2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "ERBB2 amplification", "genomic_coordinate": null, "observed": 5, "observed_status": "observed", "observed_unit": "patients", "tested": 152, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.29, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["msk_impact_50k_2026"], "source_ids": ["msk_impact_50k_2026_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "KRAS", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "KRAS amplification", "genomic_coordinate": null, "observed": 1, "observed_status": "observed", "observed_unit": "patients", "tested": 33, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.03, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["msk_impact_2017"], "source_ids": ["msk_impact_2017_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "SOX9", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "SOX9 deep deletion", "genomic_coordinate": null, "observed": 1, "observed_status": "observed", "observed_unit": "patients", "tested": 33, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.03, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["msk_impact_2017"], "source_ids": ["msk_impact_2017_cna"], "evidence_confidence": "moderate", "details": null}], "modality_summary": [{"modality": "SNV / small indel", "available_cohorts": 2, "total_cohorts": 2}, {"modality": "Copy number (discrete)", "available_cohorts": 2, "total_cohorts": 2}, {"modality": "Structural variant (present, not read)", "available_cohorts": 2, "total_cohorts": 2}], "chromosome_summary": [], "cohorts": [{"name": "MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source": "cBioPortal", "accession": "msk_impact_50k_2026", "patients": {"value": 152, "status": "observed", "unit": "patients"}, "samples": {"value": 161, "status": "observed", "unit": "samples"}, "disease_subtype": "MSK-IMPACT 50K Clinical Sequencing Cohort (MSK, Cancer Cell 2026)", "assay_type": "targeted panel", "sequencing_method": "IMPACT468 (99), IMPACT410 (29), IMPACT505 (22), IMPACT341 (11)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "amplification", "deep deletion", "structural variant (profile present, not read)"], "genes_assayed": "panel genes only; per-gene denominators", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-26", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "msk_impact_50k_2026", "is_demo": false, "assay_coverage": {"patients_with_calls": 152, "patients_in_roster": 152, "frequencies_computed": true, "samples_sequenced": 161, "samples_in_study": 54331, "hypermutated_patients": 5, "median_mutations_per_sample": 8, "reason": null}}, {"name": "MSK-IMPACT 2017, small bowel carcinoma subset", "source": "cBioPortal", "accession": "msk_impact_2017", "patients": {"value": 33, "status": "observed", "unit": "patients"}, "samples": {"value": 33, "status": "observed", "unit": "samples"}, "disease_subtype": "MSK-IMPACT Clinical Sequencing Cohort (MSK, Nat Med 2017)", "assay_type": "targeted panel", "sequencing_method": "IMPACT410 (23), IMPACT341 (10)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "amplification", "deep deletion", "structural variant (profile present, not read)"], "genes_assayed": "panel genes only; per-gene denominators", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-26", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "msk_impact_2017", "is_demo": false, "assay_coverage": {"patients_with_calls": 33, "patients_in_roster": 33, "frequencies_computed": true, "samples_sequenced": 33, "samples_in_study": 10945, "hypermutated_patients": 0, "median_mutations_per_sample": 6, "reason": null}}], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, small bowel carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "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-IMPACT 2017, small bowel carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "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 2026-09-26; 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 MSK-IMPACT 50K, small bowel carcinoma subset (2026) (152 sequenced patients, targeted panel), the most frequently altered of the 46 genes shown are TP53 53.95%, KRAS 46.71%, APC 31.58%, KMT2D 22.37%, PIK3CA 21.05%. Each figure divides by the patients on whom that gene could be called.", "5 of 152 patients are hypermutated (more than 100 non-silent mutations, ten times the cohort median of 8); every gene's frequency without them is beside the headline.", "Of the briefing's 12 curated targets, 1 are altered in under 2% of this cohort (CDKN1B): targets by expression, dependency or drug label, not by mutation. Frequency is not targetability, in either direction.", "2 cohorts are shown and none are pooled; overlap between them has not been checked and there is no disease-wide percentage."], "key_findings": [{"finding": "TP53 is mutated in 82 of 152 patients in MSK-IMPACT 50K, small bowel carcinoma subset (2026).", "numerator": 82, "denominator": 152, "frequency": 53.95, "cohorts": 2, "evidence_confidence": "low", "source": "msk_impact_50k_2026", "retrieved_at": "2026-09-26"}, {"finding": "KRAS is mutated in 71 of 152 patients in MSK-IMPACT 50K, small bowel carcinoma subset (2026).", "numerator": 71, "denominator": 152, "frequency": 46.71, "cohorts": 2, "evidence_confidence": "low", "source": "msk_impact_50k_2026", "retrieved_at": "2026-09-26"}, {"finding": "APC is mutated in 48 of 152 patients in MSK-IMPACT 50K, small bowel carcinoma subset (2026).", "numerator": 48, "denominator": 152, "frequency": 31.58, "cohorts": 2, "evidence_confidence": "low", "source": "msk_impact_50k_2026", "retrieved_at": "2026-09-26"}], "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": "msk_impact_50k_2026", "region_events": [], "matrix": [{"label": "KRAS", "kind": "SNV / small indel", "gene": "KRAS", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 46.71, "altered": 71, "tested": 152, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 63.64, "altered": 21, "tested": 33, "note": null}]}, {"label": "KRAS", "kind": "amplification", "gene": "KRAS", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 152, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 3.03, "altered": 1, "tested": 33, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "TP53", "kind": "SNV / small indel", "gene": "TP53", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 53.95, "altered": 82, "tested": 152, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 57.58, "altered": 19, "tested": 33, "note": null}]}, {"label": "APC", "kind": "SNV / small indel", "gene": "APC", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 31.58, "altered": 48, "tested": 152, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 30.3, "altered": 10, "tested": 33, "note": null}]}, {"label": "SMAD4", "kind": "SNV / small indel", "gene": "SMAD4", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 17.76, "altered": 27, "tested": 152, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 12.12, "altered": 4, "tested": 33, "note": null}]}, {"label": "SMAD4", "kind": "deep deletion", "gene": "SMAD4", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 5.26, "altered": 8, "tested": 152, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 9.09, "altered": 3, "tested": 33, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "ERBB2", "kind": "SNV / small indel", "gene": "ERBB2", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 19.74, "altered": 30, "tested": 152, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 12.12, "altered": 4, "tested": 33, "note": null}]}, {"label": "ERBB2", "kind": "amplification", "gene": "ERBB2", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 3.29, "altered": 5, "tested": 152, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "msk_impact_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 33, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "BRAF", "kind": "SNV / small indel", "gene": "BRAF", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 13.16, "altered": 20, "tested": 152, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 12.12, "altered": 4, "tested": 33, "note": null}]}, {"label": "KIT", "kind": "SNV / small indel", "gene": "KIT", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 2.63, "altered": 4, "tested": 152, "note": null}, {"cohort": "msk_impact_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 33, "note": null}]}, {"label": "PDGFRA", "kind": "SNV / small indel", "gene": "PDGFRA", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 5.26, "altered": 8, "tested": 152, "note": null}, {"cohort": "msk_impact_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 33, "note": null}]}, {"label": "MEN1", "kind": "SNV / small indel", "gene": "MEN1", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 3.95, "altered": 6, "tested": 152, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 3.03, "altered": 1, "tested": 33, "note": null}]}, {"label": "CDKN1B", "kind": "SNV / small indel", "gene": "CDKN1B", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 1.97, "altered": 3, "tested": 152, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 3.03, "altered": 1, "tested": 33, "note": null}]}, {"label": "SSTR2", "kind": "SNV / small indel", "gene": "SSTR2", "cells": [{"cohort": "msk_impact_50k_2026", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "msk_impact_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "MTOR", "kind": "SNV / small indel", "gene": "MTOR", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 7.89, "altered": 12, "tested": 152, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 6.06, "altered": 2, "tested": 33, "note": null}]}, {"label": "KMT2D", "kind": "SNV / small indel", "gene": "KMT2D", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 22.37, "altered": 34, "tested": 152, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 15.15, "altered": 5, "tested": 33, "note": null}]}, {"label": "PIK3CA", "kind": "SNV / small indel", "gene": "PIK3CA", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 21.05, "altered": 32, "tested": 152, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 3.03, "altered": 1, "tested": 33, "note": null}]}, {"label": "ATM", "kind": "SNV / small indel", "gene": "ATM", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 19.08, "altered": 29, "tested": 152, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 18.18, "altered": 6, "tested": 33, "note": null}]}, {"label": "ARID1A", "kind": "SNV / small indel", "gene": "ARID1A", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 19.08, "altered": 29, "tested": 152, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 6.06, "altered": 2, "tested": 33, "note": null}]}, {"label": "ERBB3", "kind": "SNV / small indel", "gene": "ERBB3", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 17.11, "altered": 26, "tested": 152, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 15.15, "altered": 5, "tested": 33, "note": null}]}, {"label": "ZFHX3", "kind": "SNV / small indel", "gene": "ZFHX3", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 16.9, "altered": 24, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 8.7, "altered": 2, "tested": 23, "note": null}]}, {"label": "SOX9", "kind": "SNV / small indel", "gene": "SOX9", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 14.47, "altered": 22, "tested": 152, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 15.15, "altered": 5, "tested": 33, "note": null}]}, {"label": "SOX9", "kind": "deep deletion", "gene": "SOX9", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 152, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 3.03, "altered": 1, "tested": 33, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "ARID2", "kind": "SNV / small indel", "gene": "ARID2", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 14.47, "altered": 22, "tested": 152, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 6.06, "altered": 2, "tested": 33, "note": null}]}, {"label": "KMT2B", "kind": "SNV / small indel", "gene": "KMT2B", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 18.58, "altered": 21, "tested": 113, "note": null}, {"cohort": "msk_impact_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "CTNNB1", "kind": "SNV / small indel", "gene": "CTNNB1", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 13.82, "altered": 21, "tested": 152, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 9.09, "altered": 3, "tested": 33, "note": null}]}, {"label": "TGFBR2", "kind": "SNV / small indel", "gene": "TGFBR2", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 13.16, "altered": 20, "tested": 152, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 6.06, "altered": 2, "tested": 33, "note": null}]}, {"label": "NOTCH1", "kind": "SNV / small indel", "gene": "NOTCH1", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 12.5, "altered": 19, "tested": 152, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 6.06, "altered": 2, "tested": 33, "note": null}]}, {"label": "NF1", "kind": "SNV / small indel", "gene": "NF1", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 12.5, "altered": 19, "tested": 152, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 12.12, "altered": 4, "tested": 33, "note": null}]}, {"label": "CREBBP", "kind": "SNV / small indel", "gene": "CREBBP", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 11.84, "altered": 18, "tested": 152, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 3.03, "altered": 1, "tested": 33, "note": null}]}, {"label": "RNF43", "kind": "SNV / small indel", "gene": "RNF43", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 11.18, "altered": 17, "tested": 152, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 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