{"disease": {"name": "Anal 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": "CD274", "alteration_types": ["amplification"], "altered": 0, "tested": 139, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "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, anal 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, anal 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, anal carcinoma subset (2026), 0/139 patients (0.0%).", "Largest alteration is amplification: 3/139 (2.16%) in the reference cohort's copy-number profile.", "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, anal carcinoma subset (2026)", "altered": 0, "tested": 139, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 0, "tested": 31, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 7.2, "width": 1.0, "reference": 7.2, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 3, "tested": 139, "frequency": 2.16, "is_mutation": false}, "fda_badge": null, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "PDCD1", "alteration_types": ["deep deletion"], "altered": 0, "tested": 139, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "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, anal 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, anal 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, anal carcinoma subset (2026), 0/139 patients (0.0%).", "Largest alteration is deep deletion: 1/139 (0.72%) in the reference cohort's copy-number profile.", "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, anal carcinoma subset (2026)", "altered": 0, "tested": 139, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 0, "tested": 31, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.4, "width": 1.0, "reference": 2.4, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 1, "tested": 139, "frequency": 0.72, "is_mutation": false}, "fda_badge": null, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "PIK3CA", "alteration_types": ["SNV / small indel", "amplification"], "altered": 41, "tested": 139, "frequency": 29.5, "cohort_count": 2, "frequency_range": {"min": 29.03, "max": 29.5}, "major_variants": ["E545K (n=19)", "E542K (n=12)", "H1047R (n=3)", "E726K (n=3)", "K111N (n=2)"], "evidence_confidence": "low", "disease_relevance": "Curated target in the disease briefing.", "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, anal 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, anal 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, anal carcinoma subset (2026), 41/139 patients (29.5%).", "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, anal carcinoma subset (2026)", "altered": 41, "tested": 139, "frequency": 29.5, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 9, "tested": 31, "frequency": 29.03, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 96.77, "width": 1.56, "reference": 98.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 41, "tested": 139, "frequency": 29.5, "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": "CDKN2A", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 7, "tested": 139, "frequency": 5.04, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 5.04}, "major_variants": ["R80* (n=4)", "R58* (n=2)", "X153_splice (n=1)", "R21M (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, anal 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, anal 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, anal carcinoma subset (2026), 7/139 patients (5.04%).", "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, anal carcinoma subset (2026)", "altered": 7, "tested": 139, "frequency": 5.04, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 0, "tested": 31, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "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": 16.8, "reference": 16.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 7, "tested": 139, "frequency": 5.04, "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": "TP53", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 14, "tested": 139, "frequency": 10.07, "cohort_count": 2, "frequency_range": {"min": 9.68, "max": 10.07}, "major_variants": ["E285K (n=3)", "R342* (n=3)", "R248W (n=2)", "R248Q (n=2)", "R273C (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, anal 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, anal 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, anal carcinoma subset (2026), 14/139 patients (10.07%).", "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, anal carcinoma subset (2026)", "altered": 14, "tested": 139, "frequency": 10.07, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 3, "tested": 31, "frequency": 9.68, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 32.27, "width": 1.3, "reference": 33.57, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 14, "tested": 139, "frequency": 10.07, "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": "EGFR", "alteration_types": ["SNV / small indel", "amplification"], "altered": 3, "tested": 139, "frequency": 2.16, "cohort_count": 2, "frequency_range": {"min": 2.16, "max": 3.23}, "major_variants": ["Q32Hfs*46 (n=1)", "X80_splice (n=1)", "R149W (n=1)", "F712L (n=1)", "L692V (n=1)"], "evidence_confidence": "low", "disease_relevance": "Curated target in the disease briefing.", "targetability": "FDA-recognised biomarker of drug response since 2004; 7 approved drugs. Label alteration: L858R, exon 19 deletions; exon 20 insertions.", "approved_drugs_other_diseases": ["Erlotinib (NSCLC, 2004)", "Afatinib (NSCLC with EGFR exon 19 del or L858R, 2013)", "Gefitinib (NSCLC, 2015)", "Osimertinib (NSCLC with EGFR T790M, 2015)", "Afatinib (NSCLC with EGFR S768I, 2018)", "Dacomitinib (NSCLC, 2018)", "Osimertinib (NSCLC with EGFR exon 19 del or L858R, 2018)", "Amivantamab (NSCLC, 2021)", "Mobocertinib (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, anal 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, anal 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, anal carcinoma subset (2026), 3/139 patients (2.16%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled.", "EGFR is an FDA-recognised biomarker of drug response since 2004 (7 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, anal carcinoma subset (2026)", "altered": 3, "tested": 139, "frequency": 2.16, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 1, "tested": 31, "frequency": 3.23, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 7.2, "width": 3.57, "reference": 7.2, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 139, "frequency": 2.16, "is_mutation": true}, "fda_badge": {"gene": "EGFR", "label": "FDA biomarker", "title": "FDA-recognised biomarker since 2004 — first approval Erlotinib (NSCLC, 2004). Alteration in the label: L858R, exon 19 deletions; exon 20 insertions.", "agnostic": false, "negative_selection": false, "first_year": 2004, "alterations": ["L858R, exon 19 deletions", "exon 20 insertions"], "n_drugs": 7, "drugs": ["Erlotinib (NSCLC, 2004)", "Afatinib (NSCLC with EGFR exon 19 del or L858R, 2013)", "Gefitinib (NSCLC, 2015)", "Osimertinib (NSCLC with EGFR T790M, 2015)", "Afatinib (NSCLC with EGFR S768I, 2018)", "Dacomitinib (NSCLC, 2018)", "Osimertinib (NSCLC with EGFR exon 19 del or L858R, 2018)", "Amivantamab (NSCLC, 2021)", "Mobocertinib (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": "KMT2D", "alteration_types": ["SNV / small indel"], "altered": 34, "tested": 139, "frequency": 24.46, "cohort_count": 2, "frequency_range": {"min": 12.9, "max": 24.46}, "major_variants": ["L1461Tfs*30 (n=3)", "W5395* (n=2)", "Q3741_Q3745del (n=2)", "R2830* (n=1)", "Q4045* (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, anal 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, anal 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, anal carcinoma subset (2026), 34/139 patients (24.46%).", "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, anal carcinoma subset (2026)", "altered": 34, "tested": 139, "frequency": 24.46, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 4, "tested": 31, "frequency": 12.9, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 43.0, "width": 38.53, "reference": 81.53, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 34, "tested": 139, "frequency": 24.46, "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": 19, "tested": 139, "frequency": 13.67, "cohort_count": 2, "frequency_range": {"min": 3.23, "max": 13.67}, "major_variants": ["R505G (n=4)", "R465C (n=2)", "S398Y (n=1)", "W365S (n=1)", "S25* (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, anal 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, anal 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, anal carcinoma subset (2026), 19/139 patients (13.67%).", "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, anal carcinoma subset (2026)", "altered": 19, "tested": 139, "frequency": 13.67, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 1, "tested": 31, "frequency": 3.23, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.77, "width": 34.8, "reference": 45.57, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 19, "tested": 139, "frequency": 13.67, "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": "PTEN", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 14, "tested": 139, "frequency": 10.07, "cohort_count": 2, "frequency_range": {"min": 10.07, "max": 12.9}, "major_variants": ["R130* (n=2)", "R335* (n=2)", "R130Q (n=1)", "D107Y (n=1)", "V217F (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, anal 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, anal 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, anal carcinoma subset (2026), 14/139 patients (10.07%).", "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, anal carcinoma subset (2026)", "altered": 14, "tested": 139, "frequency": 10.07, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 4, "tested": 31, "frequency": 12.9, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 33.57, "width": 9.43, "reference": 33.57, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 14, "tested": 139, "frequency": 10.07, "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": "SOX2", "alteration_types": ["SNV / small indel", "amplification"], "altered": 1, "tested": 139, "frequency": 0.72, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.72}, "major_variants": ["E282K (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, anal 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, anal 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, anal carcinoma subset (2026), 1/139 patients (0.72%).", "Largest alteration is amplification: 26/139 (18.71%) in the reference cohort's copy-number profile.", "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, anal carcinoma subset (2026)", "altered": 1, "tested": 139, "frequency": 0.72, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 0, "tested": 31, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 62.37, "width": 1.0, "reference": 62.37, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 26, "tested": 139, "frequency": 18.71, "is_mutation": false}, "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": "TERT", "alteration_types": ["SNV / small indel", "amplification"], "altered": 1, "tested": 139, "frequency": 0.72, "cohort_count": 2, "frequency_range": {"min": 0.72, "max": 3.23}, "major_variants": ["T714M (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, anal 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, anal 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, anal carcinoma subset (2026), 1/139 patients (0.72%).", "Largest alteration is amplification: 2/139 (1.44%) in the reference cohort's copy-number profile.", "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, anal carcinoma subset (2026)", "altered": 1, "tested": 139, "frequency": 0.72, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 1, "tested": 31, "frequency": 3.23, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.8, "width": 1.0, "reference": 4.8, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 2, "tested": 139, "frequency": 1.44, "is_mutation": false}, "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": "MYC", "alteration_types": ["SNV / small indel", "amplification"], "altered": 3, "tested": 139, "frequency": 2.16, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 2.16}, "major_variants": ["S161L (n=2)", "N19D (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, anal 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, anal 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, anal carcinoma subset (2026), 3/139 patients (2.16%).", "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, anal carcinoma subset (2026)", "altered": 3, "tested": 139, "frequency": 2.16, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 0, "tested": 31, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "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": 7.2, "reference": 7.2, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 139, "frequency": 2.16, "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": "EP300", "alteration_types": ["SNV / small indel"], "altered": 18, "tested": 139, "frequency": 12.95, "cohort_count": 2, "frequency_range": {"min": 12.95, "max": 16.13}, "major_variants": ["D1399N (n=4)", "D1218N (n=1)", "G1109R (n=1)", "G1443A (n=1)", "V1512F (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, anal 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, anal 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, anal carcinoma subset (2026), 18/139 patients (12.95%).", "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, anal carcinoma subset (2026)", "altered": 18, "tested": 139, "frequency": 12.95, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 5, "tested": 31, "frequency": 16.13, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 43.17, "width": 10.6, "reference": 43.17, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 18, "tested": 139, "frequency": 12.95, "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": "KMT2C", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 15, "tested": 139, "frequency": 10.79, "cohort_count": 2, "frequency_range": {"min": 3.23, "max": 10.79}, "major_variants": ["R56* (n=1)", "X197_splice (n=1)", "L2036V (n=1)", "S2053C (n=1)", "S2059* (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, anal 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, anal 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, anal carcinoma subset (2026), 15/139 patients (10.79%).", "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, anal carcinoma subset (2026)", "altered": 15, "tested": 139, "frequency": 10.79, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 1, "tested": 31, "frequency": 3.23, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.77, "width": 25.2, "reference": 35.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 15, "tested": 139, "frequency": 10.79, "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": "CREBBP", "alteration_types": ["SNV / small indel"], "altered": 14, "tested": 139, "frequency": 10.07, "cohort_count": 2, "frequency_range": {"min": 9.68, "max": 10.07}, "major_variants": ["R1446H (n=2)", "D1435N (n=2)", "S1172Qfs*7 (n=1)", "Q503* (n=1)", "R1169C (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, anal 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, anal 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, anal carcinoma subset (2026), 14/139 patients (10.07%).", "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, anal carcinoma subset (2026)", "altered": 14, "tested": 139, "frequency": 10.07, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 3, "tested": 31, "frequency": 9.68, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 32.27, "width": 1.3, "reference": 33.57, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 14, "tested": 139, "frequency": 10.07, "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": "STK11", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 13, "tested": 139, "frequency": 9.35, "cohort_count": 2, "frequency_range": {"min": 6.45, "max": 9.35}, "major_variants": ["Q100* (n=2)", "S216F (n=2)", "X155_splice (n=1)", "E121K (n=1)", "E98K (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, anal 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, anal 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, anal carcinoma subset (2026), 13/139 patients (9.35%).", "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, anal carcinoma subset (2026)", "altered": 13, "tested": 139, "frequency": 9.35, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 2, "tested": 31, "frequency": 6.45, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 21.5, "width": 9.67, "reference": 31.17, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 13, "tested": 139, "frequency": 9.35, "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": 12, "tested": 127, "frequency": 9.45, "cohort_count": 2, "frequency_range": {"min": 5.26, "max": 9.45}, "major_variants": ["A2433V (n=1)", "P1348L (n=1)", "S3601L (n=1)", "Q2057* (n=1)", "E2412K (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, anal 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, anal 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, anal carcinoma subset (2026), 12/127 patients (9.45%).", "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, anal carcinoma subset (2026)", "altered": 12, "tested": 127, "frequency": 9.45, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 1, "tested": 19, "frequency": 5.26, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 17.53, "width": 13.97, "reference": 31.5, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 12, "tested": 127, "frequency": 9.45, "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": 12, "tested": 139, "frequency": 8.63, "cohort_count": 2, "frequency_range": {"min": 3.23, "max": 8.63}, "major_variants": ["S1511T (n=1)", "D1348Efs*97 (n=1)", "E360* (n=1)", "G394V (n=1)", "D1246Y (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, anal 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, anal 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, anal carcinoma subset (2026), 12/139 patients (8.63%).", "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, anal carcinoma subset (2026)", "altered": 12, "tested": 139, "frequency": 8.63, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 1, "tested": 31, "frequency": 3.23, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.77, "width": 18.0, "reference": 28.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 12, "tested": 139, "frequency": 8.63, "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", "deep deletion"], "altered": 12, "tested": 139, "frequency": 8.63, "cohort_count": 2, "frequency_range": {"min": 6.45, "max": 8.63}, "major_variants": ["A1419S (n=1)", "R1262* (n=1)", "G2221A (n=1)", "A1470V (n=1)", "P4055S (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, anal 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, anal 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, anal carcinoma subset (2026), 12/139 patients (8.63%).", "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, anal carcinoma subset (2026)", "altered": 12, "tested": 139, "frequency": 8.63, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 2, "tested": 31, "frequency": 6.45, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 21.5, "width": 7.27, "reference": 28.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 12, "tested": 139, "frequency": 8.63, "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", "amplification", "deep deletion"], "altered": 9, "tested": 139, "frequency": 6.47, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 6.47}, "major_variants": ["R1510C (n=1)", "C1405G (n=1)", "L33del (n=1)", "A88T (n=1)", "M1722_D1723delinsIY (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, anal 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, anal 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, anal carcinoma subset (2026), 9/139 patients (6.47%).", "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, anal carcinoma subset (2026)", "altered": 9, "tested": 139, "frequency": 6.47, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 0, "tested": 31, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "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": 21.57, "reference": 21.57, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 9, "tested": 139, "frequency": 6.47, "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": "KEAP1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 9, "tested": 139, "frequency": 6.47, "cohort_count": 2, "frequency_range": {"min": 3.23, "max": 6.47}, "major_variants": ["C368Y (n=1)", "R116W (n=1)", "K303N (n=1)", "R470S (n=1)", "R362Q (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, anal 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, anal 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, anal carcinoma subset (2026), 9/139 patients (6.47%).", "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, anal carcinoma subset (2026)", "altered": 9, "tested": 139, "frequency": 6.47, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 1, "tested": 31, "frequency": 3.23, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.77, "width": 10.8, "reference": 21.57, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 9, "tested": 139, "frequency": 6.47, "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": "PTPRT", "alteration_types": ["SNV / small indel", "amplification"], "altered": 8, "tested": 139, "frequency": 5.76, "cohort_count": 2, "frequency_range": {"min": 5.76, "max": 6.45}, "major_variants": ["D1424E (n=1)", "V1143F (n=1)", "L708F (n=1)", "F1302L (n=1)", "R546Q (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, anal 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, anal 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, anal carcinoma subset (2026), 8/139 patients (5.76%).", "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, anal carcinoma subset (2026)", "altered": 8, "tested": 139, "frequency": 5.76, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 2, "tested": 31, "frequency": 6.45, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 19.2, "width": 2.3, "reference": 19.2, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 8, "tested": 139, "frequency": 5.76, "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": "NOTCH4", "alteration_types": ["SNV / small indel", "amplification"], "altered": 8, "tested": 139, "frequency": 5.76, "cohort_count": 2, "frequency_range": {"min": 3.23, "max": 5.76}, "major_variants": ["E1977K (n=2)", "P1970Y (n=1)", "P958Qfs*90 (n=1)", "G1998V (n=1)", "D1947V (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, anal 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, anal 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, anal carcinoma subset (2026), 8/139 patients (5.76%).", "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, anal carcinoma subset (2026)", "altered": 8, "tested": 139, "frequency": 5.76, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 1, "tested": 31, "frequency": 3.23, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.77, "width": 8.43, "reference": 19.2, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 8, "tested": 139, "frequency": 5.76, "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": "FANCA", "alteration_types": ["SNV / small indel"], "altered": 8, "tested": 139, "frequency": 5.76, "cohort_count": 2, "frequency_range": {"min": 3.23, "max": 5.76}, "major_variants": ["P806L (n=1)", "R52Q (n=1)", "E712* (n=1)", "A1434T (n=1)", "Q549* (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, anal 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, anal 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, anal carcinoma subset (2026), 8/139 patients (5.76%).", "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, anal carcinoma subset (2026)", "altered": 8, "tested": 139, "frequency": 5.76, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 1, "tested": 31, "frequency": 3.23, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.77, "width": 8.43, "reference": 19.2, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 8, "tested": 139, "frequency": 5.76, "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": "BRCA1", "alteration_types": ["SNV / small indel"], "altered": 8, "tested": 139, "frequency": 5.76, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 5.76}, "major_variants": ["S1796L (n=1)", "G911A (n=1)", "E1794Q (n=1)", "V8D (n=1)", "S1580F (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; 4 approved drugs. Label alteration: oncogenic mutations.", "approved_drugs_other_diseases": ["Olaparib (Ovarian, 2014)", "Rucaparib (Ovarian, 2016)", "Olaparib (Breast, 2018)", "Talazoparib (Breast, 2018)", "Niraparib (Ovarian/fallopian tube/primary peritoneal, 2019)", "Olaparib (Pancreatic, 2019)", "Olaparib (mCRPC, 2020)", "Rucaparib (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, anal 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, anal 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, anal carcinoma subset (2026), 8/139 patients (5.76%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled.", "BRCA1 is an FDA-recognised biomarker of drug response since 2014 (4 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, anal carcinoma subset (2026)", "altered": 8, "tested": 139, "frequency": 5.76, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 0, "tested": 31, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "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": 19.2, "reference": 19.2, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 8, "tested": 139, "frequency": 5.76, "is_mutation": true}, "fda_badge": {"gene": "BRCA1", "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": 4, "drugs": ["Olaparib (Ovarian, 2014)", "Rucaparib (Ovarian, 2016)", "Olaparib (Breast, 2018)", "Talazoparib (Breast, 2018)", "Niraparib (Ovarian/fallopian tube/primary peritoneal, 2019)", "Olaparib (Pancreatic, 2019)", "Olaparib (mCRPC, 2020)", "Rucaparib (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": "TGFBR2", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 7, "tested": 139, "frequency": 5.04, "cohort_count": 2, "frequency_range": {"min": 5.04, "max": 6.45}, "major_variants": ["R497* (n=2)", "R460H (n=1)", "E526K (n=1)", "S69R (n=1)", "M1? (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, anal 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, anal 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, anal carcinoma subset (2026), 7/139 patients (5.04%).", "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, anal carcinoma subset (2026)", "altered": 7, "tested": 139, "frequency": 5.04, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 2, "tested": 31, "frequency": 6.45, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 16.8, "width": 4.7, "reference": 16.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 7, "tested": 139, "frequency": 5.04, "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": "TET2", "alteration_types": ["SNV / small indel"], "altered": 7, "tested": 139, "frequency": 5.04, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 5.04}, "major_variants": ["R1383K (n=1)", "R1966H (n=1)", "Q1632E (n=1)", "K700* (n=1)", "E1477* (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, anal 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, anal 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, anal carcinoma subset (2026), 7/139 patients (5.04%).", "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, anal carcinoma subset (2026)", "altered": 7, "tested": 139, "frequency": 5.04, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 0, "tested": 31, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "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": 16.8, "reference": 16.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 7, "tested": 139, "frequency": 5.04, "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": "PIK3R1", "alteration_types": ["SNV / small indel"], "altered": 7, "tested": 139, "frequency": 5.04, "cohort_count": 2, "frequency_range": {"min": 3.23, "max": 5.04}, "major_variants": ["S709_L710del (n=1)", "D578Pfs*23 (n=1)", "T701Lfs*39 (n=1)", "E555* (n=1)", "Q435_D440del (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, anal 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, anal 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, anal carcinoma subset (2026), 7/139 patients (5.04%).", "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, anal carcinoma subset (2026)", "altered": 7, "tested": 139, "frequency": 5.04, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 1, "tested": 31, "frequency": 3.23, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.77, "width": 6.03, "reference": 16.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 7, "tested": 139, "frequency": 5.04, "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": "KMT2A", "alteration_types": ["SNV / small indel"], "altered": 7, "tested": 139, "frequency": 5.04, "cohort_count": 2, "frequency_range": {"min": 5.04, "max": 6.45}, "major_variants": ["S1232C (n=1)", "G2321R (n=1)", "D1972Y (n=1)", "I233M (n=1)", "S261F (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, anal 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, anal 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, anal carcinoma subset (2026), 7/139 patients (5.04%).", "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, anal carcinoma subset (2026)", "altered": 7, "tested": 139, "frequency": 5.04, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 2, "tested": 31, "frequency": 6.45, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 16.8, "width": 4.7, "reference": 16.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 7, "tested": 139, "frequency": 5.04, "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": "HLA-B", "alteration_types": ["SNV / small indel", "amplification"], "altered": 7, "tested": 100, "frequency": 7.0, "cohort_count": 1, "frequency_range": {"min": 7.0, "max": 7.0}, "major_variants": ["D61H (n=1)", "E113* (n=1)", "F60L (n=1)", "D262N (n=1)", "M1? (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, anal 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, anal 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, anal carcinoma subset (2026), 7/100 patients (7.0%).", "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, anal carcinoma subset (2026)", "altered": 7, "tested": 100, "frequency": 7.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal 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": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 23.33, "width": 1.0, "reference": 23.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 7, "tested": 100, "frequency": 7.0, "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", "deep deletion"], "altered": 7, "tested": 139, "frequency": 5.04, "cohort_count": 2, "frequency_range": {"min": 3.23, "max": 5.04}, "major_variants": ["S310F (n=2)", "R678Q (n=1)", "I767M (n=1)", "S1078Y (n=1)", "D1012Y (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 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, anal 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, anal 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, anal carcinoma subset (2026), 7/139 patients (5.04%).", "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, anal carcinoma subset (2026)", "altered": 7, "tested": 139, "frequency": 5.04, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 1, "tested": 31, "frequency": 3.23, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.77, "width": 6.03, "reference": 16.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 7, "tested": 139, "frequency": 5.04, "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": "CASP8", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 7, "tested": 139, "frequency": 5.04, "cohort_count": 2, "frequency_range": {"min": 3.23, "max": 5.04}, "major_variants": ["P291R (n=1)", "R127P (n=1)", "Q482* (n=1)", "R494* (n=1)", "Q398* (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, anal 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, anal 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, anal carcinoma subset (2026), 7/139 patients (5.04%).", "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, anal carcinoma subset (2026)", "altered": 7, "tested": 139, "frequency": 5.04, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 1, "tested": 31, "frequency": 3.23, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.77, "width": 6.03, "reference": 16.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 7, "tested": 139, "frequency": 5.04, "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"], "altered": 7, "tested": 139, "frequency": 5.04, "cohort_count": 2, "frequency_range": {"min": 3.23, "max": 5.04}, "major_variants": ["L572F (n=1)", "D605N (n=1)", "K2051Efs*9 (n=1)", "V2659M (n=1)", "R2204* (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, anal 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, anal 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, anal carcinoma subset (2026), 7/139 patients (5.04%).", "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, anal carcinoma subset (2026)", "altered": 7, "tested": 139, "frequency": 5.04, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 1, "tested": 31, "frequency": 3.23, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.77, "width": 6.03, "reference": 16.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 7, "tested": 139, "frequency": 5.04, "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": "STAG2", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 6, "tested": 139, "frequency": 4.32, "cohort_count": 2, "frequency_range": {"min": 4.32, "max": 6.45}, "major_variants": ["L264I (n=1)", "A533S (n=1)", "L716F (n=1)", "P160S (n=1)", "M796I (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, anal 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, anal 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, anal carcinoma subset (2026), 6/139 patients (4.32%).", "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, anal carcinoma subset (2026)", "altered": 6, "tested": 139, "frequency": 4.32, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 2, "tested": 31, "frequency": 6.45, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 14.4, "width": 7.1, "reference": 14.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 139, "frequency": 4.32, "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": "RICTOR", "alteration_types": ["SNV / small indel", "amplification"], "altered": 6, "tested": 139, "frequency": 4.32, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 4.32}, "major_variants": ["R1609C (n=1)", "S1373F (n=1)", "D247H (n=1)", "R293* (n=1)", "A3T (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, anal 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, anal 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, anal carcinoma subset (2026), 6/139 patients (4.32%).", "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, anal carcinoma subset (2026)", "altered": 6, "tested": 139, "frequency": 4.32, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 0, "tested": 31, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "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": 14.4, "reference": 14.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 139, "frequency": 4.32, "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": "RB1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 6, "tested": 139, "frequency": 4.32, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 4.32}, "major_variants": ["R251* (n=1)", "R579* (n=1)", "D85Efs*25 (n=1)", "Q217* (n=1)", "S576* (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, anal 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, anal 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, anal carcinoma subset (2026), 6/139 patients (4.32%).", "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, anal carcinoma subset (2026)", "altered": 6, "tested": 139, "frequency": 4.32, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 0, "tested": 31, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "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": 14.4, "reference": 14.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 139, "frequency": 4.32, "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": "PTPRD", "alteration_types": ["SNV / small indel", "amplification"], "altered": 6, "tested": 139, "frequency": 4.32, "cohort_count": 2, "frequency_range": {"min": 4.32, "max": 6.45}, "major_variants": ["R232H (n=1)", "V720I (n=1)", "E1459K (n=1)", "D76N (n=1)", "Q67* (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, anal 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, anal 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, anal carcinoma subset (2026), 6/139 patients (4.32%).", "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, anal carcinoma subset (2026)", "altered": 6, "tested": 139, "frequency": 4.32, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 2, "tested": 31, "frequency": 6.45, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 14.4, "width": 7.1, "reference": 14.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 139, "frequency": 4.32, "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": "PIK3CG", "alteration_types": ["SNV / small indel"], "altered": 6, "tested": 139, "frequency": 4.32, "cohort_count": 2, "frequency_range": {"min": 3.23, "max": 4.32}, "major_variants": ["E781K (n=1)", "T380K (n=1)", "R226C (n=1)", "A57V (n=1)", "V759I (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, anal 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, anal 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, anal carcinoma subset (2026), 6/139 patients (4.32%).", "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, anal carcinoma subset (2026)", "altered": 6, "tested": 139, "frequency": 4.32, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 1, "tested": 31, "frequency": 3.23, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.77, "width": 3.63, "reference": 14.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 139, "frequency": 4.32, "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", "deep deletion"], "altered": 6, "tested": 139, "frequency": 4.32, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 4.32}, "major_variants": ["D2298H (n=1)", "E2284Q (n=1)", "F1947L (n=1)", "Q1856* (n=1)", "Q1221* (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, anal 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, anal 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, anal carcinoma subset (2026), 6/139 patients (4.32%).", "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, anal carcinoma subset (2026)", "altered": 6, "tested": 139, "frequency": 4.32, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 0, "tested": 31, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "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": 14.4, "reference": 14.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 139, "frequency": 4.32, "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": "NOTCH2", "alteration_types": ["SNV / small indel", "amplification"], "altered": 6, "tested": 139, "frequency": 4.32, "cohort_count": 2, "frequency_range": {"min": 4.32, "max": 6.45}, "major_variants": ["G598R (n=2)", "S1660L (n=1)", "C691Sfs*51 (n=1)", "C335R (n=1)", "D682G (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, anal 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, anal 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, anal carcinoma subset (2026), 6/139 patients (4.32%).", "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, anal carcinoma subset (2026)", "altered": 6, "tested": 139, "frequency": 4.32, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 2, "tested": 31, "frequency": 6.45, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 14.4, "width": 7.1, "reference": 14.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 139, "frequency": 4.32, "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": "NFE2L2", "alteration_types": ["SNV / small indel"], "altered": 6, "tested": 139, "frequency": 4.32, "cohort_count": 2, "frequency_range": {"min": 4.32, "max": 6.45}, "major_variants": ["D29Y (n=1)", "G31R (n=1)", "Q26H (n=1)", "L30F (n=1)", "L562Rfs*8 (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, anal 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, anal 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, anal carcinoma subset (2026), 6/139 patients (4.32%).", "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, anal carcinoma subset (2026)", "altered": 6, "tested": 139, "frequency": 4.32, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 2, "tested": 31, "frequency": 6.45, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 14.4, "width": 7.1, "reference": 14.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 139, "frequency": 4.32, "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": "KRAS", "alteration_types": ["SNV / small indel"], "altered": 6, "tested": 139, "frequency": 4.32, "cohort_count": 2, "frequency_range": {"min": 3.23, "max": 4.32}, "major_variants": ["G12D (n=2)", "G12C (n=2)", "G12A (n=1)", "G13C (n=1)", "G13D (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 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, anal 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, anal 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, anal carcinoma subset (2026), 6/139 patients (4.32%).", "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, anal carcinoma subset (2026)", "altered": 6, "tested": 139, "frequency": 4.32, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 1, "tested": 31, "frequency": 3.23, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.77, "width": 3.63, "reference": 14.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 139, "frequency": 4.32, "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": "KDM6A", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 6, "tested": 139, "frequency": 4.32, "cohort_count": 2, "frequency_range": {"min": 3.23, "max": 4.32}, "major_variants": ["Q301* (n=1)", "S531L (n=1)", "Q641* (n=1)", "R519* (n=1)", "L83Nfs*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, anal 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, anal 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, anal carcinoma subset (2026), 6/139 patients (4.32%).", "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, anal carcinoma subset (2026)", "altered": 6, "tested": 139, "frequency": 4.32, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 1, "tested": 31, "frequency": 3.23, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.77, "width": 3.63, "reference": 14.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 139, "frequency": 4.32, "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": "HLA-A", "alteration_types": ["SNV / small indel"], "altered": 6, "tested": 127, "frequency": 4.72, "cohort_count": 2, "frequency_range": {"min": 4.72, "max": 5.26}, "major_variants": ["L10Vfs*90 (n=1)", "E113* (n=1)", "X115_splice (n=1)", "G124D (n=1)", "R7L (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, anal 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, anal 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, anal carcinoma subset (2026), 6/127 patients (4.72%).", "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, anal carcinoma subset (2026)", "altered": 6, "tested": 127, "frequency": 4.72, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 1, "tested": 19, "frequency": 5.26, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 15.73, "width": 1.8, "reference": 15.73, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 127, "frequency": 4.72, "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": "CDK12", "alteration_types": ["SNV / small indel"], "altered": 6, "tested": 139, "frequency": 4.32, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 4.32}, "major_variants": ["Q547* (n=1)", "S332F (n=1)", "S283L (n=1)", "W719* (n=1)", "S826C (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, anal 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, anal 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, anal carcinoma subset (2026), 6/139 patients (4.32%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled.", "CDK12 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, anal carcinoma subset (2026)", "altered": 6, "tested": 139, "frequency": 4.32, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 0, "tested": 31, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "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": 14.4, "reference": 14.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 139, "frequency": 4.32, "is_mutation": true}, "fda_badge": {"gene": "CDK12", "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": "BRCA2", "alteration_types": ["SNV / small indel", "amplification"], "altered": 6, "tested": 139, "frequency": 4.32, "cohort_count": 2, "frequency_range": {"min": 3.23, "max": 4.32}, "major_variants": ["X2659_splice (n=1)", "S270L (n=1)", "I1556M (n=1)", "S3245L (n=1)", "T3165N (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, anal 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, anal 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, anal carcinoma subset (2026), 6/139 patients (4.32%).", "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, anal carcinoma subset (2026)", "altered": 6, "tested": 139, "frequency": 4.32, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "143/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, anal carcinoma subset", "altered": 1, "tested": 31, "frequency": 3.23, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "32/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.77, "width": 3.63, "reference": 14.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 139, "frequency": 4.32, "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"}], "variants": [], "genomic_events": [{"event_type": "copy_number", "gene": "SOX2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "SOX2 amplification", "genomic_coordinate": null, "observed": 26, "observed_status": "observed", "observed_unit": "patients", "tested": 139, "tested_status": "observed", "tested_unit": "patients", "frequency": 18.71, "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": "PIK3CA", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "PIK3CA amplification", "genomic_coordinate": null, "observed": 24, "observed_status": "observed", "observed_unit": "patients", "tested": 139, "tested_status": "observed", "tested_unit": "patients", "frequency": 17.27, "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": "SOX2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "SOX2 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"copy_number", "gene": "STK11", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "STK11 deep deletion", "genomic_coordinate": null, "observed": 6, "observed_status": "observed", "observed_unit": "patients", "tested": 139, "tested_status": "observed", "tested_unit": "patients", "frequency": 4.32, "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": "TGFBR2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "TGFBR2 deep deletion", "genomic_coordinate": null, "observed": 6, "observed_status": "observed", "observed_unit": "patients", "tested": 139, "tested_status": "observed", "tested_unit": "patients", "frequency": 4.32, "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": "PTEN", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "PTEN deep deletion", "genomic_coordinate": null, "observed": 5, "observed_status": "observed", "observed_unit": "patients", "tested": 139, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.6, "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": "CD274", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "CD274 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"copy_number", "gene": "NOTCH3", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "NOTCH3 deep deletion", "genomic_coordinate": null, "observed": 1, "observed_status": "observed", "observed_unit": "patients", "tested": 31, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.23, "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": "TGFBR2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "TGFBR2 deep deletion", "genomic_coordinate": null, "observed": 1, "observed_status": "observed", "observed_unit": "patients", "tested": 31, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.23, "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": "ERBB2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "ERBB2 deep deletion", "genomic_coordinate": null, "observed": 1, "observed_status": "observed", "observed_unit": "patients", "tested": 31, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.23, "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": "CASP8", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "CASP8 deep deletion", "genomic_coordinate": null, "observed": 1, "observed_status": "observed", "observed_unit": "patients", "tested": 31, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.23, "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": "KDM6A", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "KDM6A deep deletion", "genomic_coordinate": null, "observed": 1, "observed_status": "observed", "observed_unit": "patients", "tested": 31, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.23, "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": "FAT1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "FAT1 deep deletion", "genomic_coordinate": null, "observed": 4, "observed_status": "observed", "observed_unit": "patients", "tested": 139, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.88, "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": "CD274", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "CD274 amplification", "genomic_coordinate": null, "observed": 3, "observed_status": "observed", "observed_unit": "patients", "tested": 139, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.16, "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": "MYC", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "MYC amplification", "genomic_coordinate": null, "observed": 3, "observed_status": "observed", "observed_unit": "patients", "tested": 139, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.16, "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": "BRCA2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "BRCA2 amplification", "genomic_coordinate": null, "observed": 3, "observed_status": "observed", "observed_unit": "patients", "tested": 139, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.16, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["msk_impact_50k_2026"], "source_ids": ["msk_impact_50k_2026_gistic"], "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, anal carcinoma subset (2026)", "source": "cBioPortal", "accession": "msk_impact_50k_2026", "patients": {"value": 139, "status": "observed", "unit": "patients"}, "samples": {"value": 143, "status": "observed", "unit": "samples"}, "disease_subtype": "MSK-IMPACT 50K Clinical Sequencing Cohort (MSK, Cancer Cell 2026)", "assay_type": "targeted panel", "sequencing_method": "IMPACT468 (71), IMPACT505 (31), IMPACT410 (29), IMPACT341 (12)", "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": 139, "patients_in_roster": 139, "frequencies_computed": true, "samples_sequenced": 143, "samples_in_study": 54331, "hypermutated_patients": 0, "median_mutations_per_sample": 6, "reason": null}}, {"name": "MSK-IMPACT 2017, anal carcinoma subset", "source": "cBioPortal", "accession": "msk_impact_2017", "patients": {"value": 31, "status": "observed", "unit": "patients"}, "samples": {"value": 32, "status": "observed", "unit": "samples"}, "disease_subtype": "MSK-IMPACT Clinical Sequencing Cohort (MSK, Nat Med 2017)", "assay_type": "targeted panel", "sequencing_method": "IMPACT410 (20), IMPACT341 (12)", "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": 31, "patients_in_roster": 31, "frequencies_computed": true, "samples_sequenced": 32, "samples_in_study": 10945, "hypermutated_patients": 0, "median_mutations_per_sample": 3.0, "reason": null}}], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, anal 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, anal 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, anal carcinoma subset (2026) (139 sequenced patients, targeted panel), the most frequently altered of the 46 genes shown are PIK3CA 29.5%, KMT2D 24.46%, SOX2 18.71% (amplification), FBXW7 13.67%, EP300 12.95%. Each figure divides by the patients on whom that gene could be called.", "Of the briefing's 12 curated targets, 2 are altered in under 2% of this cohort (PDCD1, TERT): 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": "PIK3CA is mutated in 41 of 139 patients in MSK-IMPACT 50K, anal carcinoma subset (2026).", "numerator": 41, "denominator": 139, "frequency": 29.5, "cohorts": 2, "evidence_confidence": "low", "source": "msk_impact_50k_2026", "retrieved_at": "2026-09-26"}, {"finding": "KMT2D is mutated in 34 of 139 patients in MSK-IMPACT 50K, anal carcinoma subset (2026).", "numerator": 34, "denominator": 139, "frequency": 24.46, "cohorts": 2, "evidence_confidence": "low", "source": "msk_impact_50k_2026", "retrieved_at": "2026-09-26"}, {"finding": "SOX2 is amplified in 26 of 139 patients in MSK-IMPACT 50K, anal carcinoma subset (2026).", "numerator": 26, "denominator": 139, "frequency": 18.71, "cohorts": 1, "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": "CD274", "kind": "SNV / small indel", "gene": "CD274", "cells": [{"cohort": "msk_impact_50k_2026", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 139, "note": null}, {"cohort": "msk_impact_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 31, "note": null}]}, {"label": "CD274", "kind": "amplification", "gene": "CD274", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 2.16, "altered": 3, "tested": 139, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 3.23, "altered": 1, "tested": 31, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "PDCD1", "kind": "SNV / small indel", "gene": "PDCD1", "cells": [{"cohort": "msk_impact_50k_2026", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 139, "note": null}, {"cohort": "msk_impact_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 31, "note": null}]}, {"label": "PIK3CA", "kind": "SNV / small indel", "gene": "PIK3CA", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 29.5, "altered": 41, "tested": 139, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 29.03, "altered": 9, "tested": 31, "note": null}]}, {"label": "PIK3CA", "kind": "amplification", "gene": "PIK3CA", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 17.27, "altered": 24, "tested": 139, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 6.45, "altered": 2, "tested": 31, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "CDKN2A", "kind": "SNV / small indel", "gene": "CDKN2A", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 5.04, "altered": 7, "tested": 139, "note": null}, {"cohort": "msk_impact_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 31, "note": null}]}, {"label": "TP53", "kind": "SNV / small indel", "gene": "TP53", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 10.07, "altered": 14, "tested": 139, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 9.68, "altered": 3, "tested": 31, "note": null}]}, {"label": "EGFR", "kind": "SNV / small indel", "gene": "EGFR", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 2.16, "altered": 3, "tested": 139, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 3.23, "altered": 1, "tested": 31, "note": null}]}, {"label": "KMT2D", "kind": "SNV / small indel", "gene": "KMT2D", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 24.46, "altered": 34, "tested": 139, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 12.9, "altered": 4, "tested": 31, "note": null}]}, {"label": "FBXW7", "kind": "SNV / small indel", "gene": "FBXW7", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 13.67, "altered": 19, "tested": 139, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 3.23, "altered": 1, "tested": 31, "note": null}]}, {"label": "PTEN", "kind": "SNV / small indel", "gene": "PTEN", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 10.07, "altered": 14, "tested": 139, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 12.9, "altered": 4, "tested": 31, "note": null}]}, {"label": "PTEN", "kind": "deep deletion", "gene": "PTEN", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 3.6, "altered": 5, "tested": 139, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 3.23, "altered": 1, "tested": 31, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "SOX2", "kind": "SNV / small indel", "gene": "SOX2", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 0.72, "altered": 1, "tested": 139, "note": null}, {"cohort": "msk_impact_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 31, "note": null}]}, {"label": "SOX2", "kind": "amplification", "gene": "SOX2", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 18.71, "altered": 26, "tested": 139, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 9.68, "altered": 3, "tested": 31, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "TERT", "kind": "SNV / small indel", "gene": "TERT", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 0.72, "altered": 1, "tested": 139, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 3.23, "altered": 1, "tested": 31, "note": null}]}, {"label": "MYC", "kind": "SNV / small indel", "gene": "MYC", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 2.16, "altered": 3, "tested": 139, "note": null}, {"cohort": "msk_impact_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 31, "note": null}]}, {"label": "MYC", "kind": "amplification", "gene": "MYC", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 2.16, "altered": 3, "tested": 139, "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": 31, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "EP300", "kind": "SNV / small indel", "gene": "EP300", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 12.95, "altered": 18, "tested": 139, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 16.13, "altered": 5, "tested": 31, "note": null}]}, {"label": "KMT2C", "kind": "SNV / small indel", "gene": "KMT2C", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 10.79, "altered": 15, "tested": 139, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 3.23, "altered": 1, "tested": 31, "note": null}]}, {"label": "CREBBP", "kind": "SNV / small indel", "gene": "CREBBP", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 10.07, "altered": 14, "tested": 139, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 9.68, "altered": 3, "tested": 31, "note": null}]}, {"label": "STK11", "kind": "SNV / small indel", "gene": "STK11", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 9.35, "altered": 13, "tested": 139, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 6.45, "altered": 2, "tested": 31, "note": null}]}, {"label": "STK11", "kind": "deep deletion", "gene": "STK11", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 4.32, "altered": 6, "tested": 139, "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": 31, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "ZFHX3", "kind": "SNV / small indel", "gene": "ZFHX3", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 9.45, "altered": 12, "tested": 127, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 5.26, "altered": 1, "tested": 19, "note": null}]}, {"label": "NOTCH1", "kind": "SNV / small indel", "gene": "NOTCH1", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 8.63, "altered": 12, "tested": 139, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 3.23, "altered": 1, "tested": 31, "note": null}]}, {"label": "FAT1", "kind": "SNV / small indel", "gene": "FAT1", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 8.63, "altered": 12, "tested": 139, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 6.45, "altered": 2, "tested": 31, "note": null}]}, {"label": "FAT1", "kind": "deep deletion", "gene": "FAT1", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 2.88, "altered": 4, "tested": 139, "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": 31, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "NOTCH3", "kind": "SNV / small indel", "gene": "NOTCH3", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 6.47, "altered": 9, "tested": 139, "note": null}, {"cohort": "msk_impact_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 31, "note": null}]}, {"label": "NOTCH3", "kind": "deep deletion", "gene": "NOTCH3", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 0.72, "altered": 1, "tested": 139, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 3.23, "altered": 1, "tested": 31, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "KEAP1", "kind": "SNV / small indel", "gene": "KEAP1", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 6.47, "altered": 9, "tested": 139, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 3.23, "altered": 1, "tested": 31, "note": null}]}, {"label": "PTPRT", "kind": "SNV / small indel", "gene": "PTPRT", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 5.76, "altered": 8, "tested": 139, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 6.45, "altered": 2, "tested": 31, "note": null}]}, {"label": "NOTCH4", "kind": "SNV / small indel", "gene": "NOTCH4", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 5.76, "altered": 8, "tested": 139, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 3.23, "altered": 1, "tested": 31, "note": null}]}, {"label": "FANCA", "kind": "SNV / small indel", "gene": "FANCA", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 5.76, "altered": 8, "tested": 139, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 3.23, "altered": 1, "tested": 31, "note": null}]}, {"label": "BRCA1", "kind": "SNV / small indel", "gene": "BRCA1", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 5.76, "altered": 8, "tested": 139, "note": null}, {"cohort": "msk_impact_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 31, "note": null}]}, {"label": "TGFBR2", "kind": "SNV / small indel", "gene": "TGFBR2", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 5.04, "altered": 7, "tested": 139, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 6.45, "altered": 2, "tested": 31, "note": null}]}, {"label": "TGFBR2", "kind": "deep deletion", "gene": "TGFBR2", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 4.32, "altered": 6, "tested": 139, "note": "Discrete copy-number call; 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