{"disease": {"name": "Melanoma", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "skcm"}, "updated_at": "2026-09-17", "genome_builds": ["hg19"], "cohort_count": 3, "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": "BRAF", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 233, "tested": 438, "frequency": 53.2, "cohort_count": 3, "frequency_range": {"min": 38.89, "max": 53.2}, "major_variants": ["V600E (n=158)", "V600K (n=35)", "K601E (n=5)", "V600R (n=4)", "G466E (n=4)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 233/438 patients (53.2%).", "Without the 4 hypermutated patients: 230/434 (53.0%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 233, "tested": 438, "frequency": 53.2, "frequency_excl_hypermutated": 53.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "altered": 301, "tested": 696, "frequency": 43.25, "frequency_excl_hypermutated": 43.21, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 56, "tested": 144, "frequency": 38.89, "frequency_excl_hypermutated": 40.29, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 233, "tested": 438, "frequency": 53.2, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "NRAS", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 125, "tested": 438, "frequency": 28.54, "cohort_count": 3, "frequency_range": {"min": 28.54, "max": 29.86}, "major_variants": ["Q61R (n=54)", "Q61K (n=38)", "Q61L (n=16)", "Q61H (n=6)", "G12R (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 125/438 patients (28.54%).", "Without the 4 hypermutated patients: 125/434 (28.8%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 125, "tested": 438, "frequency": 28.54, "frequency_excl_hypermutated": 28.8, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "altered": 207, "tested": 696, "frequency": 29.74, "frequency_excl_hypermutated": 29.77, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 43, "tested": 144, "frequency": 29.86, "frequency_excl_hypermutated": 30.22, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 95.13, "width": 4.4, "reference": 95.13, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 125, "tested": 438, "frequency": 28.54, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "NF1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 75, "tested": 438, "frequency": 17.12, "cohort_count": 3, "frequency_range": {"min": 17.12, "max": 27.87}, "major_variants": ["R440* (n=5)", "S2496F (n=2)", "Q282* (n=2)", "X69_splice (n=2)", "Q1070* (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 75/438 patients (17.12%).", "Without the 4 hypermutated patients: 71/434 (16.36%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 75, "tested": 438, "frequency": 17.12, "frequency_excl_hypermutated": 16.36, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "altered": 194, "tested": 696, "frequency": 27.87, "frequency_excl_hypermutated": 27.75, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 25, "tested": 144, "frequency": 17.36, "frequency_excl_hypermutated": 15.11, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 57.07, "width": 35.83, "reference": 57.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 75, "tested": 438, "frequency": 17.12, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "KIT", "alteration_types": ["SNV / small indel", "amplification"], "altered": 30, "tested": 438, "frequency": 6.85, "cohort_count": 3, "frequency_range": {"min": 4.86, "max": 6.85}, "major_variants": ["K642E (n=6)", "V559A (n=3)", "L576P (n=2)", "M722I (n=1)", "W582L (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 30/438 patients (6.85%).", "Without the 4 hypermutated patients: 28/434 (6.45%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 30, "tested": 438, "frequency": 6.85, "frequency_excl_hypermutated": 6.45, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "altered": 39, "tested": 696, "frequency": 5.6, "frequency_excl_hypermutated": 5.2, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 7, "tested": 144, "frequency": 4.86, "frequency_excl_hypermutated": 4.32, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 16.2, "width": 6.63, "reference": 22.83, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 30, "tested": 438, "frequency": 6.85, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "MAP2K1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 28, "tested": 438, "frequency": 6.39, "cohort_count": 3, "frequency_range": {"min": 6.39, "max": 8.48}, "major_variants": ["P124S (n=13)", "P124L (n=4)", "E203K (n=2)", "K57N (n=2)", "Q278H (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 28/438 patients (6.39%).", "Without the 4 hypermutated patients: 28/434 (6.45%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 28, "tested": 438, "frequency": 6.39, "frequency_excl_hypermutated": 6.45, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "altered": 59, "tested": 696, "frequency": 8.48, "frequency_excl_hypermutated": 8.38, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 10, "tested": 144, "frequency": 6.94, "frequency_excl_hypermutated": 6.47, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 21.3, "width": 6.97, "reference": 21.3, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 28, "tested": 438, "frequency": 6.39, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "CDKN2A", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 59, "tested": 438, "frequency": 13.47, "cohort_count": 3, "frequency_range": {"min": 11.81, "max": 19.97}, "major_variants": ["P114L (n=10)", "R58* (n=6)", "W110* (n=5)", "X51_splice (n=5)", "Q50* (n=5)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 59/438 patients (13.47%).", "Without the 4 hypermutated patients: 57/434 (13.13%).", "Largest alteration is deep deletion: 112/367 (30.52%) in the reference cohort's copy-number profile.", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 59, "tested": 438, "frequency": 13.47, "frequency_excl_hypermutated": 13.13, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "altered": 139, "tested": 696, "frequency": 19.97, "frequency_excl_hypermutated": 19.94, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 17, "tested": 144, "frequency": 11.81, "frequency_excl_hypermutated": 11.51, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 112, "tested": 367, "frequency": 30.52, "is_mutation": 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": "PTEN", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 43, "tested": 438, "frequency": 9.82, "cohort_count": 3, "frequency_range": {"min": 7.64, "max": 11.78}, "major_variants": ["P38S (n=3)", "V166Sfs*14 (n=3)", "Q298* (n=2)", "X342_splice (n=2)", "R130* (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 43/438 patients (9.82%).", "Without the 4 hypermutated patients: 43/434 (9.91%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 43, "tested": 438, "frequency": 9.82, "frequency_excl_hypermutated": 9.91, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "altered": 82, "tested": 696, "frequency": 11.78, "frequency_excl_hypermutated": 11.85, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 11, "tested": 144, "frequency": 7.64, "frequency_excl_hypermutated": 7.19, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 25.47, "width": 13.8, "reference": 32.73, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 43, "tested": 438, "frequency": 9.82, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TERT", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 18, "tested": 438, "frequency": 4.11, "cohort_count": 3, "frequency_range": {"min": 4.11, "max": 9.91}, "major_variants": ["G830W (n=1)", "S802N (n=1)", "S1095P (n=1)", "R1105L (n=1)", "D628N (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 18/438 patients (4.11%).", "Without the 4 hypermutated patients: 16/434 (3.69%).", "Largest alteration is amplification: 19/367 (5.18%) in the reference cohort's copy-number profile.", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 18, "tested": 438, "frequency": 4.11, "frequency_excl_hypermutated": 3.69, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "altered": 69, "tested": 696, "frequency": 9.91, "frequency_excl_hypermutated": 9.54, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 6, "tested": 144, "frequency": 4.17, "frequency_excl_hypermutated": 3.6, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 17.27, "width": 1.0, "reference": 17.27, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 19, "tested": 367, "frequency": 5.18, "is_mutation": 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": "PDCD1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 16, "tested": 438, "frequency": 3.65, "cohort_count": 3, "frequency_range": {"min": 1.87, "max": 3.65}, "major_variants": ["H107N (n=2)", "E211K (n=2)", "Q88* (n=1)", "S38F (n=1)", "S220F (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 16/438 patients (3.65%).", "Without the 4 hypermutated patients: 16/434 (3.69%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 16, "tested": 438, "frequency": 3.65, "frequency_excl_hypermutated": 3.69, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "altered": 13, "tested": 696, "frequency": 1.87, "frequency_excl_hypermutated": 1.73, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 4, "tested": 144, "frequency": 2.78, "frequency_excl_hypermutated": 1.44, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 6.23, "width": 5.94, "reference": 12.17, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 16, "tested": 438, "frequency": 3.65, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "CTLA4", "alteration_types": ["SNV / small indel", "amplification"], "altered": 6, "tested": 438, "frequency": 1.37, "cohort_count": 3, "frequency_range": {"min": 1.37, "max": 2.78}, "major_variants": ["*224Lext*16 (n=1)", "Q117* (n=1)", "G199R (n=1)", "P137Q (n=1)", "M91I (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 6/438 patients (1.37%).", "Without the 4 hypermutated patients: 6/434 (1.38%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 6, "tested": 438, "frequency": 1.37, "frequency_excl_hypermutated": 1.38, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "altered": 16, "tested": 696, "frequency": 2.3, "frequency_excl_hypermutated": 2.31, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 4, "tested": 144, "frequency": 2.78, "frequency_excl_hypermutated": 0.72, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.57, "width": 4.7, "reference": 4.57, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 438, "frequency": 1.37, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "LAG3", "alteration_types": ["SNV / small indel", "amplification"], "altered": 12, "tested": 438, "frequency": 2.74, "cohort_count": 2, "frequency_range": {"min": 2.74, "max": 4.86}, "major_variants": ["G261C (n=1)", "W16L (n=1)", "S460F (n=1)", "I253S (n=1)", "G365E (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 12/438 patients (2.74%).", "Without the 4 hypermutated patients: 11/434 (2.53%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 12, "tested": 438, "frequency": 2.74, "frequency_excl_hypermutated": 2.53, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 7, "tested": 144, "frequency": 4.86, "frequency_excl_hypermutated": 2.88, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 9.13, "width": 7.07, "reference": 9.13, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 12, "tested": 438, "frequency": 2.74, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "MITF", "alteration_types": ["SNV / small indel", "amplification"], "altered": 9, "tested": 438, "frequency": 2.05, "cohort_count": 3, "frequency_range": {"min": 0.69, "max": 2.16}, "major_variants": ["L106R (n=1)", "R298S (n=1)", "L484F (n=1)", "T127del (n=1)", "P210Q (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 9/438 patients (2.05%).", "Without the 4 hypermutated patients: 9/434 (2.07%).", "Largest alteration is amplification: 24/367 (6.54%) in the reference cohort's copy-number profile.", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 9, "tested": 438, "frequency": 2.05, "frequency_excl_hypermutated": 2.07, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "altered": 15, "tested": 696, "frequency": 2.16, "frequency_excl_hypermutated": 2.17, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 1, "tested": 144, "frequency": 0.69, "frequency_excl_hypermutated": 0.72, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 21.8, "width": 1.0, "reference": 21.8, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 24, "tested": 367, "frequency": 6.54, "is_mutation": 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": "PMEL", "alteration_types": ["SNV / small indel", "amplification"], "altered": 17, "tested": 438, "frequency": 3.88, "cohort_count": 2, "frequency_range": {"min": 0.69, "max": 3.88}, "major_variants": ["P214S (n=1)", "Q583K (n=1)", "P91T (n=1)", "E437* (n=1)", "G228W (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 17/438 patients (3.88%).", "Without the 4 hypermutated patients: 17/434 (3.92%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 17, "tested": 438, "frequency": 3.88, "frequency_excl_hypermutated": 3.92, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 1, "tested": 144, "frequency": 0.69, "frequency_excl_hypermutated": 0.72, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.3, "width": 10.63, "reference": 12.93, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 17, "tested": 438, "frequency": 3.88, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "MGAM", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 173, "tested": 438, "frequency": 39.5, "cohort_count": 2, "frequency_range": {"min": 31.25, "max": 39.5}, "major_variants": ["P1091L (n=5)", "R98Q (n=5)", "R1097C (n=5)", "E805K (n=3)", "E435K (n=3)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 173/438 patients (39.5%).", "Without the 4 hypermutated patients: 169/434 (38.94%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 173, "tested": 438, "frequency": 39.5, "frequency_excl_hypermutated": 38.94, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 45, "tested": 144, "frequency": 31.25, "frequency_excl_hypermutated": 28.78, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 173, "tested": 438, "frequency": 39.5, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "DSCAM", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 151, "tested": 438, "frequency": 34.47, "cohort_count": 2, "frequency_range": {"min": 25.0, "max": 34.47}, "major_variants": ["E368K (n=6)", "E1819K (n=6)", "D771N (n=5)", "E1464K (n=5)", "E1584K (n=4)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 151/438 patients (34.47%).", "Without the 4 hypermutated patients: 147/434 (33.87%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 151, "tested": 438, "frequency": 34.47, "frequency_excl_hypermutated": 33.87, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 36, "tested": 144, "frequency": 25.0, "frequency_excl_hypermutated": 22.3, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 83.33, "width": 16.67, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 151, "tested": 438, "frequency": 34.47, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "MXRA5", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 143, "tested": 438, "frequency": 32.65, "cohort_count": 2, "frequency_range": {"min": 32.65, "max": 33.33}, "major_variants": ["E2006K (n=7)", "G160E (n=4)", "G1070E (n=4)", "E886K (n=3)", "P1005S (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 143/438 patients (32.65%).", "Without the 4 hypermutated patients: 139/434 (32.03%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 143, "tested": 438, "frequency": 32.65, "frequency_excl_hypermutated": 32.03, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 48, "tested": 144, "frequency": 33.33, "frequency_excl_hypermutated": 31.65, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 143, "tested": 438, "frequency": 32.65, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PCDH15", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 141, "tested": 438, "frequency": 32.19, "cohort_count": 2, "frequency_range": {"min": 22.22, "max": 32.19}, "major_variants": ["R764C (n=7)", "R1522K (n=5)", "E447K (n=3)", "R1414Q (n=3)", "R1273C (n=3)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 141/438 patients (32.19%).", "Without the 4 hypermutated patients: 137/434 (31.57%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 141, "tested": 438, "frequency": 32.19, "frequency_excl_hypermutated": 31.57, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 32, "tested": 144, "frequency": 22.22, "frequency_excl_hypermutated": 19.42, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 74.07, "width": 25.93, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 141, "tested": 438, "frequency": 32.19, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "COL4A4", "alteration_types": ["SNV / small indel", "amplification"], "altered": 135, "tested": 438, "frequency": 30.82, "cohort_count": 2, "frequency_range": {"min": 19.44, "max": 30.82}, "major_variants": ["G757E (n=3)", "G1204E (n=3)", "G426W (n=3)", "P892L (n=3)", "G1011E (n=3)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 135/438 patients (30.82%).", "Without the 4 hypermutated patients: 131/434 (30.18%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 135, "tested": 438, "frequency": 30.82, "frequency_excl_hypermutated": 30.18, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 28, "tested": 144, "frequency": 19.44, "frequency_excl_hypermutated": 17.27, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 64.8, "width": 35.2, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 135, "tested": 438, "frequency": 30.82, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "SCN11A", "alteration_types": ["SNV / small indel", "amplification"], "altered": 131, "tested": 438, "frequency": 29.91, "cohort_count": 2, "frequency_range": {"min": 14.58, "max": 29.91}, "major_variants": ["R1679C (n=4)", "P1456S (n=3)", "E923K (n=3)", "G45E (n=3)", "E431K (n=3)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 131/438 patients (29.91%).", "Without the 4 hypermutated patients: 127/434 (29.26%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 131, "tested": 438, "frequency": 29.91, "frequency_excl_hypermutated": 29.26, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 21, "tested": 144, "frequency": 14.58, "frequency_excl_hypermutated": 11.51, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 48.6, "width": 51.1, "reference": 99.7, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 131, "tested": 438, "frequency": 29.91, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "MROH2B", "alteration_types": ["SNV / small indel", "amplification"], "altered": 130, "tested": 438, "frequency": 29.68, "cohort_count": 2, "frequency_range": {"min": 19.44, "max": 29.68}, "major_variants": ["S1436L (n=6)", "P173S (n=5)", "R834W (n=4)", "D1477N (n=4)", "E1292K (n=4)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 130/438 patients (29.68%).", "Without the 4 hypermutated patients: 126/434 (29.03%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 130, "tested": 438, "frequency": 29.68, "frequency_excl_hypermutated": 29.03, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 28, "tested": 144, "frequency": 19.44, "frequency_excl_hypermutated": 16.55, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 64.8, "width": 34.13, "reference": 98.93, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 130, "tested": 438, "frequency": 29.68, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "UNC13C", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 127, "tested": 438, "frequency": 29.0, "cohort_count": 2, "frequency_range": {"min": 20.14, "max": 29.0}, "major_variants": ["E301K (n=4)", "H2061Y (n=4)", "E249K (n=3)", "S1426L (n=3)", "E1701K (n=3)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin 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false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 127/438 patients (29.0%).", "Without the 4 hypermutated patients: 124/434 (28.57%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 127, "tested": 438, "frequency": 29.0, "frequency_excl_hypermutated": 28.57, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 29, "tested": 144, "frequency": 20.14, "frequency_excl_hypermutated": 17.27, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 67.13, "width": 29.54, "reference": 96.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 127, "tested": 438, "frequency": 29.0, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", 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"https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 127/438 patients (29.0%).", "Without the 4 hypermutated patients: 123/434 (28.34%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 127, "tested": 438, "frequency": 29.0, "frequency_excl_hypermutated": 28.34, 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false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 124/438 patients (28.31%).", "Without the 4 hypermutated patients: 121/434 (27.88%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 124, "tested": 438, "frequency": 28.31, "frequency_excl_hypermutated": 27.88, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "altered": 254, "tested": 696, "frequency": 36.49, "frequency_excl_hypermutated": 36.13, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, 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"skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 121/438 patients (27.63%).", "Without the 4 hypermutated patients: 117/434 (26.96%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 121, "tested": 438, "frequency": 27.63, "frequency_excl_hypermutated": 26.96, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 34, "tested": 144, "frequency": 23.61, "frequency_excl_hypermutated": 20.86, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 78.7, "width": 13.4, "reference": 92.1, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 121, "tested": 438, "frequency": 27.63, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "FAM135B", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 121, "tested": 438, "frequency": 27.63, "cohort_count": 2, "frequency_range": {"min": 17.36, "max": 27.63}, "major_variants": ["R1211Q (n=3)", "S1073F (n=3)", "H92Y (n=3)", "M1345I (n=3)", "S657F (n=3)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 121/438 patients (27.63%).", "Without the 4 hypermutated patients: 117/434 (26.96%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 121, "tested": 438, "frequency": 27.63, "frequency_excl_hypermutated": 26.96, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 25, "tested": 144, "frequency": 17.36, "frequency_excl_hypermutated": 15.11, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 57.87, "width": 34.23, "reference": 92.1, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 121, "tested": 438, "frequency": 27.63, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ASXL3", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 121, "tested": 438, "frequency": 27.63, "cohort_count": 2, "frequency_range": {"min": 22.92, "max": 27.63}, "major_variants": ["P1370S (n=10)", "E453K (n=4)", "D1725N (n=2)", "E1645K (n=2)", "E882K (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 121/438 patients (27.63%).", "Without the 4 hypermutated patients: 117/434 (26.96%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 121, "tested": 438, "frequency": 27.63, "frequency_excl_hypermutated": 26.96, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 33, "tested": 144, "frequency": 22.92, "frequency_excl_hypermutated": 20.86, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 76.4, "width": 15.7, "reference": 92.1, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 121, "tested": 438, "frequency": 27.63, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "SVEP1", "alteration_types": ["SNV / small indel"], "altered": 119, "tested": 438, "frequency": 27.17, "cohort_count": 2, "frequency_range": {"min": 16.67, "max": 27.17}, "major_variants": ["E1165K (n=3)", "S2365F (n=3)", "G2786S (n=2)", "G1320R (n=2)", "P938L (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 119/438 patients (27.17%).", "Without the 4 hypermutated patients: 116/434 (26.73%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 119, "tested": 438, "frequency": 27.17, "frequency_excl_hypermutated": 26.73, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 24, "tested": 144, "frequency": 16.67, "frequency_excl_hypermutated": 13.67, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 55.57, "width": 35.0, "reference": 90.57, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 119, "tested": 438, "frequency": 27.17, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ADGRG4", "alteration_types": ["SNV / small indel", "amplification"], "altered": 119, "tested": 438, "frequency": 27.17, "cohort_count": 2, "frequency_range": {"min": 18.06, "max": 27.17}, "major_variants": ["E873K (n=4)", "G2695W (n=2)", "G1557W (n=2)", "S1414L (n=2)", "R1086C (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 119/438 patients (27.17%).", "Without the 4 hypermutated patients: 115/434 (26.5%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 119, "tested": 438, "frequency": 27.17, "frequency_excl_hypermutated": 26.5, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 26, "tested": 144, "frequency": 18.06, "frequency_excl_hypermutated": 15.83, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 60.2, "width": 30.37, "reference": 90.57, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 119, "tested": 438, "frequency": 27.17, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "MYH2", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 118, "tested": 438, "frequency": 26.94, "cohort_count": 2, "frequency_range": {"min": 23.61, "max": 26.94}, "major_variants": ["E1382K (n=5)", "E878K (n=4)", "P228L (n=3)", "E347K (n=3)", "M858I (n=3)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 118/438 patients (26.94%).", "Without the 4 hypermutated patients: 114/434 (26.27%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 118, "tested": 438, "frequency": 26.94, "frequency_excl_hypermutated": 26.27, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 34, "tested": 144, "frequency": 23.61, "frequency_excl_hypermutated": 20.86, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 78.7, "width": 11.1, "reference": 89.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 118, "tested": 438, "frequency": 26.94, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "GRIN2A", "alteration_types": ["SNV / small indel", "amplification"], "altered": 118, "tested": 438, "frequency": 26.94, "cohort_count": 3, "frequency_range": {"min": 17.36, "max": 31.18}, "major_variants": ["G1322E (n=7)", "D1153N (n=3)", "R1067W (n=3)", "E743K (n=2)", "D1024N (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 118/438 patients (26.94%).", "Without the 4 hypermutated patients: 114/434 (26.27%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 118, "tested": 438, "frequency": 26.94, "frequency_excl_hypermutated": 26.27, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "altered": 217, "tested": 696, "frequency": 31.18, "frequency_excl_hypermutated": 30.78, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 25, "tested": 144, "frequency": 17.36, "frequency_excl_hypermutated": 15.11, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 57.87, "width": 42.13, "reference": 89.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 118, "tested": 438, "frequency": 26.94, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "RELN", "alteration_types": ["SNV / small indel", "amplification"], "altered": 117, "tested": 438, "frequency": 26.71, "cohort_count": 2, "frequency_range": {"min": 20.14, "max": 26.71}, "major_variants": ["S515F (n=2)", "W328* (n=2)", "W2786* (n=2)", "G804R (n=2)", "P2345L (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 117/438 patients (26.71%).", "Without the 4 hypermutated patients: 113/434 (26.04%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 117, "tested": 438, "frequency": 26.71, "frequency_excl_hypermutated": 26.04, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 29, "tested": 144, "frequency": 20.14, "frequency_excl_hypermutated": 17.27, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 67.13, "width": 21.9, "reference": 89.03, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 117, "tested": 438, "frequency": 26.71, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ERICH3", "alteration_types": ["SNV / small indel", "amplification"], "altered": 117, "tested": 438, "frequency": 26.71, "cohort_count": 2, "frequency_range": {"min": 20.14, "max": 26.71}, "major_variants": ["E1129K (n=3)", "E773K (n=3)", "S1524F (n=3)", "R259C (n=3)", "P239S (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 117/438 patients (26.71%).", "Without the 4 hypermutated patients: 113/434 (26.04%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 117, "tested": 438, "frequency": 26.71, "frequency_excl_hypermutated": 26.04, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 29, "tested": 144, "frequency": 20.14, "frequency_excl_hypermutated": 17.27, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 67.13, "width": 21.9, "reference": 89.03, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 117, "tested": 438, "frequency": 26.71, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "DCC", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 114, "tested": 438, "frequency": 26.03, "cohort_count": 2, "frequency_range": {"min": 22.92, "max": 26.03}, "major_variants": ["R1337* (n=6)", "R443Q (n=4)", "R1021* (n=4)", "G490E (n=4)", "R501* (n=3)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 114/438 patients (26.03%).", "Without the 4 hypermutated patients: 110/434 (25.35%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 114, "tested": 438, "frequency": 26.03, "frequency_excl_hypermutated": 25.35, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 33, "tested": 144, "frequency": 22.92, "frequency_excl_hypermutated": 20.14, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 76.4, "width": 10.37, "reference": 86.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 114, "tested": 438, "frequency": 26.03, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "SI", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 113, "tested": 438, "frequency": 25.8, "cohort_count": 2, "frequency_range": {"min": 18.75, "max": 25.8}, "major_variants": ["P579S (n=4)", "W255* (n=3)", "R157C (n=2)", "E643K (n=2)", "R250C (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 113/438 patients (25.8%).", "Without the 4 hypermutated patients: 112/434 (25.81%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 113, "tested": 438, "frequency": 25.8, "frequency_excl_hypermutated": 25.81, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 27, "tested": 144, "frequency": 18.75, "frequency_excl_hypermutated": 16.55, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 62.5, "width": 23.5, "reference": 86.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 113, "tested": 438, "frequency": 25.8, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "MYH1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 112, "tested": 438, "frequency": 25.57, "cohort_count": 2, "frequency_range": {"min": 18.06, "max": 25.57}, "major_variants": ["R791Q (n=6)", "S1739F (n=5)", "R24Q (n=4)", "E1906K (n=3)", "G1524E (n=3)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 112/438 patients (25.57%).", "Without the 4 hypermutated patients: 108/434 (24.88%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 112, "tested": 438, "frequency": 25.57, "frequency_excl_hypermutated": 24.88, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 26, "tested": 144, "frequency": 18.06, "frequency_excl_hypermutated": 15.83, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 60.2, "width": 25.03, "reference": 85.23, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 112, "tested": 438, "frequency": 25.57, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TACC2", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 110, "tested": 438, "frequency": 25.11, "cohort_count": 2, "frequency_range": {"min": 20.14, "max": 25.11}, "major_variants": ["P2247T (n=3)", "P781L (n=3)", "S2397F (n=2)", "H1486N (n=2)", "S1920L (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 110/438 patients (25.11%).", "Without the 4 hypermutated patients: 106/434 (24.42%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 110, "tested": 438, "frequency": 25.11, "frequency_excl_hypermutated": 24.42, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 29, "tested": 144, "frequency": 20.14, "frequency_excl_hypermutated": 17.27, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 67.13, "width": 16.57, "reference": 83.7, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 110, "tested": 438, "frequency": 25.11, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "STXBP5L", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 109, "tested": 438, "frequency": 24.89, "cohort_count": 2, "frequency_range": {"min": 13.89, "max": 24.89}, "major_variants": ["R696Q (n=4)", "E320K (n=3)", "G503E (n=3)", "R66L (n=2)", "P397L (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 109/438 patients (24.89%).", "Without the 4 hypermutated patients: 105/434 (24.19%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 109, "tested": 438, "frequency": 24.89, "frequency_excl_hypermutated": 24.19, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 20, "tested": 144, "frequency": 13.89, "frequency_excl_hypermutated": 12.23, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 46.3, "width": 36.67, "reference": 82.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 109, "tested": 438, "frequency": 24.89, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "CACNA1E", "alteration_types": ["SNV / small indel", "amplification"], "altered": 109, "tested": 438, "frequency": 24.89, "cohort_count": 2, "frequency_range": {"min": 24.31, "max": 24.89}, "major_variants": ["D1697N (n=4)", "R2099S (n=3)", "E1743K (n=3)", "E462K (n=3)", "E1690K (n=3)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 109/438 patients (24.89%).", "Without the 4 hypermutated patients: 105/434 (24.19%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 109, "tested": 438, "frequency": 24.89, "frequency_excl_hypermutated": 24.19, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 35, "tested": 144, "frequency": 24.31, "frequency_excl_hypermutated": 21.58, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 81.03, "width": 1.94, "reference": 82.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 109, "tested": 438, "frequency": 24.89, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "STAB2", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 108, "tested": 438, "frequency": 24.66, "cohort_count": 2, "frequency_range": {"min": 22.92, "max": 24.66}, "major_variants": ["R243Q (n=4)", "S974L (n=3)", "G1956E (n=2)", "S1035F (n=2)", "G51E (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 108/438 patients (24.66%).", "Without the 4 hypermutated patients: 104/434 (23.96%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 108, "tested": 438, "frequency": 24.66, "frequency_excl_hypermutated": 23.96, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 33, "tested": 144, "frequency": 22.92, "frequency_excl_hypermutated": 20.14, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 76.4, "width": 5.8, "reference": 82.2, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 108, "tested": 438, "frequency": 24.66, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TRANK1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 107, "tested": 438, "frequency": 24.43, "cohort_count": 2, "frequency_range": {"min": 23.61, "max": 24.43}, "major_variants": ["E791K (n=3)", "W2427* (n=3)", "G2338E (n=3)", "P2199S (n=3)", "E1752K (n=3)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 107/438 patients (24.43%).", "Without the 4 hypermutated patients: 103/434 (23.73%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 107, "tested": 438, "frequency": 24.43, "frequency_excl_hypermutated": 23.73, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 34, "tested": 144, "frequency": 23.61, "frequency_excl_hypermutated": 20.86, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 78.7, "width": 2.73, "reference": 81.43, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 107, "tested": 438, "frequency": 24.43, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "SCN5A", "alteration_types": ["SNV / small indel", "amplification"], "altered": 107, "tested": 438, "frequency": 24.43, "cohort_count": 2, "frequency_range": {"min": 13.89, "max": 24.43}, "major_variants": ["E431K (n=3)", "E446K (n=2)", "E1025K (n=2)", "G386E (n=2)", "Q1909* (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 107/438 patients (24.43%).", "Without the 4 hypermutated patients: 103/434 (23.73%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 107, "tested": 438, "frequency": 24.43, "frequency_excl_hypermutated": 23.73, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 20, "tested": 144, "frequency": 13.89, "frequency_excl_hypermutated": 11.51, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 46.3, "width": 35.13, "reference": 81.43, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 107, "tested": 438, "frequency": 24.43, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "NPAP1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 107, "tested": 438, "frequency": 24.43, "cohort_count": 2, "frequency_range": {"min": 19.44, "max": 24.43}, "major_variants": ["G210E (n=7)", "S528F (n=5)", "S887F (n=4)", "G481R (n=3)", "D173N (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 107/438 patients (24.43%).", "Without the 4 hypermutated patients: 103/434 (23.73%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 107, "tested": 438, "frequency": 24.43, "frequency_excl_hypermutated": 23.73, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 28, "tested": 144, "frequency": 19.44, "frequency_excl_hypermutated": 16.55, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 64.8, "width": 16.63, "reference": 81.43, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 107, "tested": 438, "frequency": 24.43, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "FCGBP", "alteration_types": ["SNV / small indel", "amplification"], "altered": 106, "tested": 438, "frequency": 24.2, "cohort_count": 2, "frequency_range": {"min": 18.75, "max": 24.2}, "major_variants": ["X5185_splice (n=2)", "P1427S (n=2)", "V732I (n=2)", "R1304Q (n=2)", "G1482S (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 106/438 patients (24.2%).", "Without the 4 hypermutated patients: 102/434 (23.5%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 106, "tested": 438, "frequency": 24.2, "frequency_excl_hypermutated": 23.5, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 27, "tested": 144, "frequency": 18.75, "frequency_excl_hypermutated": 15.83, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 62.5, "width": 18.17, "reference": 80.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 106, "tested": 438, "frequency": 24.2, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "FRAS1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 105, "tested": 438, "frequency": 23.97, "cohort_count": 2, "frequency_range": {"min": 16.67, "max": 23.97}, "major_variants": ["P1341S (n=2)", "E3004K (n=2)", "G2168E (n=2)", "S1336L (n=2)", "E2671K (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 105/438 patients (23.97%).", "Without the 4 hypermutated patients: 103/434 (23.73%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 105, "tested": 438, "frequency": 23.97, "frequency_excl_hypermutated": 23.73, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 24, "tested": 144, "frequency": 16.67, "frequency_excl_hypermutated": 14.39, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 55.57, "width": 24.33, "reference": 79.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 105, "tested": 438, "frequency": 23.97, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "C6", "alteration_types": ["SNV / small indel", "amplification"], "altered": 105, "tested": 438, "frequency": 23.97, "cohort_count": 2, "frequency_range": {"min": 18.06, "max": 23.97}, "major_variants": ["R145C (n=6)", "E871K (n=4)", "S836F (n=4)", "S853L (n=3)", "E170K (n=3)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 105/438 patients (23.97%).", "Without the 4 hypermutated patients: 101/434 (23.27%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 105, "tested": 438, "frequency": 23.97, "frequency_excl_hypermutated": 23.27, "counting_unit": "patients", "status": "observed", "assayed": true, 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null, "chromosome": null, "range_plot": {"left": 60.2, "width": 19.7, "reference": 79.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 105, "tested": 438, "frequency": 23.97, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ADAMTS20", "alteration_types": ["SNV / small indel", "amplification"], "altered": 105, "tested": 438, "frequency": 23.97, "cohort_count": 2, "frequency_range": {"min": 22.22, "max": 23.97}, "major_variants": ["E1019K (n=4)", "M600I (n=3)", "S375L (n=3)", "E1753K (n=3)", "R359M (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 105/438 patients (23.97%).", "Without the 4 hypermutated patients: 102/434 (23.5%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 105, "tested": 438, "frequency": 23.97, "frequency_excl_hypermutated": 23.5, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 32, "tested": 144, "frequency": 22.22, "frequency_excl_hypermutated": 19.42, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 74.07, "width": 5.83, "reference": 79.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 105, "tested": 438, "frequency": 23.97, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": 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"skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 104/438 patients (23.74%).", "Without the 4 hypermutated patients: 101/434 (23.27%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 104, "tested": 438, "frequency": 23.74, "frequency_excl_hypermutated": 23.27, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 24, "tested": 144, "frequency": 16.67, "frequency_excl_hypermutated": 14.39, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 55.57, "width": 23.56, "reference": 79.13, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 104, "tested": 438, "frequency": 23.74, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "COL3A1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 104, "tested": 438, "frequency": 23.74, "cohort_count": 2, "frequency_range": {"min": 19.44, "max": 23.74}, "major_variants": ["P80L (n=3)", "G1014E (n=3)", "G468R (n=3)", "P260H (n=3)", "G609E (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 104/438 patients (23.74%).", "Without the 4 hypermutated patients: 100/434 (23.04%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 104, "tested": 438, "frequency": 23.74, "frequency_excl_hypermutated": 23.04, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic melanoma (Nat Med 2019)", "altered": 28, "tested": 144, "frequency": 19.44, "frequency_excl_hypermutated": 16.55, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/144", "coverage_note": null, "source_id": "mel_dfci_2019", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 64.8, "width": 14.33, "reference": 79.13, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 104, "tested": 438, "frequency": 23.74, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "CMYA5", "alteration_types": ["SNV / small indel", "amplification"], "altered": 104, 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"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 melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 104/438 patients (23.74%).", "Without the 4 hypermutated patients: 100/434 (23.04%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 104, "tested": 438, "frequency": 23.74, "frequency_excl_hypermutated": 23.04, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": 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the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: TCGA PanCancer Atlas cutaneous melanoma (2018), 104/438 patients (23.74%).", "Without the 4 hypermutated patients: 100/434 (23.04%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "altered": 104, "tested": 438, "frequency": 23.74, "frequency_excl_hypermutated": 23.04, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "440/448", "coverage_note": null, "source_id": "skcm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "mel_mskimpact_2020", "cohort_name": "MSK-IMPACT melanoma (Clin Cancer Res 2021)", "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": "696/696", "coverage_note": null, "source_id": "mel_mskimpact_2020", "is_reference": false}, {"cohort": "mel_dfci_2019", "cohort_name": "DFCI metastatic 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"tested_status": "observed", "tested_unit": "patients", "frequency": 3.47, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["mel_dfci_2019"], "source_ids": ["mel_dfci_2019_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "MITF", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "MITF amplification", "genomic_coordinate": null, "observed": 24, "observed_status": "observed", "observed_unit": "patients", "tested": 696, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.45, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["mel_mskimpact_2020"], "source_ids": ["mel_mskimpact_2020_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "MGAM", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, 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["skcm_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "KIT", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "KIT amplification", "genomic_coordinate": null, "observed": 4, "observed_status": "observed", "observed_unit": "patients", "tested": 144, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.78, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["mel_dfci_2019"], "source_ids": ["mel_dfci_2019_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "KIT", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "KIT amplification", "genomic_coordinate": null, "observed": 10, "observed_status": "observed", "observed_unit": "patients", "tested": 367, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.72, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["skcm_tcga_pan_can_atlas_2018"], "source_ids": ["skcm_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "TERT", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "TERT amplification", "genomic_coordinate": null, "observed": 18, "observed_status": "observed", "observed_unit": "patients", "tested": 696, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.59, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["mel_mskimpact_2020"], "source_ids": ["mel_mskimpact_2020_cna"], "evidence_confidence": "moderate", "details": null}], "modality_summary": [{"modality": "SNV / small indel", "available_cohorts": 3, "total_cohorts": 3}, {"modality": "Copy number (discrete)", "available_cohorts": 3, "total_cohorts": 3}, {"modality": "Structural variant (present, not read)", "available_cohorts": 2, "total_cohorts": 3}], "chromosome_summary": [], "cohorts": [{"name": "TCGA PanCancer Atlas cutaneous melanoma (2018)", "source": "cBioPortal", "accession": "skcm_tcga_pan_can_atlas_2018", "patients": {"value": 438, "status": "observed", "unit": "patients"}, "samples": {"value": 440, "status": "observed", "unit": "samples"}, "disease_subtype": "Skin Cutaneous Melanoma (TCGA, PanCancer Atlas)", "assay_type": "exome or genome", "sequencing_method": "WES (440)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "amplification", "deep deletion", "structural variant (profile present, not read)"], "genes_assayed": "all coding genes", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-17", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: 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"primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-17", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "mel_mskimpact_2020", "is_demo": false, "assay_coverage": {"patients_with_calls": 696, "patients_in_roster": 696, "frequencies_computed": true, "samples_sequenced": 696, "samples_in_study": 696, "hypermutated_patients": 4, "median_mutations_per_sample": 17.0, "reason": null}}, {"name": "DFCI metastatic melanoma (Nat Med 2019)", "source": "cBioPortal", "accession": "mel_dfci_2019", "patients": {"value": 144, "status": "observed", "unit": "patients"}, "samples": {"value": 144, "status": "observed", "unit": "samples"}, "disease_subtype": "Metastatic Melanoma (DFCI, Nature Medicine 2019)", "assay_type": "exome or genome", "sequencing_method": "WES (144)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "amplification", "deep deletion"], "genes_assayed": "all coding genes", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-17", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "mel_dfci_2019", "is_demo": false, "assay_coverage": {"patients_with_calls": 144, "patients_in_roster": 144, "frequencies_computed": true, "samples_sequenced": 144, "samples_in_study": 144, "hypermutated_patients": 5, "median_mutations_per_sample": 246.5, "reason": null}}], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas cutaneous melanoma (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018", "source_record_id": "skcm_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT melanoma (Clin Cancer Res 2021)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_mskimpact_2020", "source_record_id": "mel_mskimpact_2020", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI metastatic melanoma (Nat Med 2019)", "source_url": "https://www.cbioportal.org/study/summary?id=mel_dfci_2019", "source_record_id": "mel_dfci_2019", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "limitations": ["A cBioPortal public-API snapshot retrieved 2026-09-17; the page does not refresh source data at request time.", "Counts are patients with at least one non-silent call in the study's sequenced sample list; silent, intronic and UTR calls are excluded.", "For targeted-panel cohorts each gene divides by the patients whose panel carried it; a gene absent from the panel is shown as not assayed, not as zero.", "Copy-number rows use discrete calls (2 = high-level amplification, −2 = deep deletion) against the cohort's copy-number sample list, which is a different roster from the sequenced one.", "Cohorts are not pooled. Cross-study patient overlap has not been checked and no disease-wide frequency is reported.", "Structural variants and fusions are not read in this snapshot even where the study carries a profile; germline variants, mutational signatures, TMB and MSI are not reported.", "The gene set is the briefing's curated targets plus the reference cohort's most frequently mutated genes; it is not genome-wide."], "answer_block": ["In TCGA PanCancer Atlas cutaneous melanoma (2018) (438 sequenced patients, exome or genome), the most frequently altered of the 51 genes shown are BRAF 53.2%, MGAM 39.5%, DSCAM 34.47%, MXRA5 32.65%, PCDH15 32.19%. Each figure divides by the patients on whom that gene could be called.", "4 of 438 patients are hypermutated (more than 4390 non-silent mutations, ten times the cohort median of 439); every gene's frequency without them is beside the headline.", "Of the briefing's 13 curated targets, 1 are altered in under 2% of this cohort (CTLA4): targets by expression, dependency or drug label, not by mutation. Frequency is not targetability, in either direction.", "3 cohorts are shown and none are pooled; overlap between them has not been checked and there is no disease-wide percentage."], "key_findings": [{"finding": "BRAF is mutated in 233 of 438 patients in TCGA PanCancer Atlas cutaneous melanoma (2018).", "numerator": 233, "denominator": 438, "frequency": 53.2, "cohorts": 3, "evidence_confidence": "moderate", "source": "skcm_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-17"}, {"finding": "MGAM is mutated in 173 of 438 patients in TCGA PanCancer Atlas cutaneous melanoma (2018).", "numerator": 173, "denominator": 438, "frequency": 39.5, "cohorts": 2, "evidence_confidence": "moderate", "source": "skcm_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-17"}, {"finding": "DSCAM is mutated in 151 of 438 patients in TCGA PanCancer Atlas cutaneous melanoma (2018).", "numerator": 151, "denominator": 438, "frequency": 34.47, "cohorts": 2, "evidence_confidence": "moderate", "source": "skcm_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-17"}], "research_gaps": [{"kind": "Structural variants", "text": "Read the structural-variant profiles the studies carry; fusions are the defining event in several of these diseases."}, {"kind": "Context", "text": "Stage, subtype, age and treatment line are not attached to any count; the cohorts differ on all four."}, {"kind": "Interpretation", "text": "Activating versus inactivating, actionable versus not, and evidence level are not inferred here; the briefing's target table carries the drug and trial facts."}], "observations": [], "data_status": "PUBLIC SOURCE SNAPSHOT", "is_demo": false, "reference_cohort": "skcm_tcga_pan_can_atlas_2018", "region_events": [], "matrix": [{"label": "BRAF", "kind": "SNV / small indel", "gene": "BRAF", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 53.2, "altered": 233, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "observed", "frequency": 43.25, "altered": 301, "tested": 696, "note": null}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 38.89, "altered": 56, "tested": 144, "note": null}]}, {"label": "BRAF", "kind": "amplification", "gene": "BRAF", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.09, "altered": 15, "tested": 367, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "mel_mskimpact_2020", "status": "observed", "frequency": 1.72, "altered": 12, "tested": 696, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 0.69, "altered": 1, "tested": 144, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "NRAS", "kind": "SNV / small indel", "gene": "NRAS", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 28.54, "altered": 125, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "observed", "frequency": 29.74, "altered": 207, "tested": 696, "note": null}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 29.86, "altered": 43, "tested": 144, "note": null}]}, {"label": "NRAS", "kind": "amplification", "gene": "NRAS", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.0, "altered": 11, "tested": 367, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "mel_mskimpact_2020", "status": "observed", "frequency": 1.44, "altered": 10, "tested": 696, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 1.39, "altered": 2, "tested": 144, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "NF1", "kind": "SNV / small indel", "gene": "NF1", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 17.12, "altered": 75, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "observed", "frequency": 27.87, "altered": 194, "tested": 696, "note": null}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 17.36, "altered": 25, "tested": 144, "note": null}]}, {"label": "KIT", "kind": "SNV / small indel", "gene": "KIT", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.85, "altered": 30, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "observed", "frequency": 5.6, "altered": 39, "tested": 696, "note": null}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 4.86, "altered": 7, "tested": 144, "note": null}]}, {"label": "KIT", "kind": "amplification", "gene": "KIT", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.72, "altered": 10, "tested": 367, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "mel_mskimpact_2020", "status": "observed", "frequency": 1.29, "altered": 9, "tested": 696, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 2.78, "altered": 4, "tested": 144, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "MAP2K1", "kind": "SNV / small indel", "gene": "MAP2K1", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.39, "altered": 28, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "observed", "frequency": 8.48, "altered": 59, "tested": 696, "note": null}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 6.94, "altered": 10, "tested": 144, "note": null}]}, {"label": "CDKN2A", "kind": "SNV / small indel", "gene": "CDKN2A", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 13.47, "altered": 59, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "observed", "frequency": 19.97, "altered": 139, "tested": 696, "note": null}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 11.81, "altered": 17, "tested": 144, "note": null}]}, {"label": "CDKN2A", "kind": "deep deletion", "gene": "CDKN2A", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 30.52, "altered": 112, "tested": 367, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "mel_mskimpact_2020", "status": "observed", "frequency": 25.86, "altered": 180, "tested": 696, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 22.22, "altered": 32, "tested": 144, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "PTEN", "kind": "SNV / small indel", "gene": "PTEN", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.82, "altered": 43, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "observed", "frequency": 11.78, "altered": 82, "tested": 696, "note": null}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 7.64, "altered": 11, "tested": 144, "note": null}]}, {"label": "PTEN", "kind": "deep deletion", "gene": "PTEN", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.63, "altered": 28, "tested": 367, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "mel_mskimpact_2020", "status": "observed", "frequency": 3.88, "altered": 27, "tested": 696, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 5.56, "altered": 8, "tested": 144, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "TERT", "kind": "SNV / small indel", "gene": "TERT", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.11, "altered": 18, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "observed", "frequency": 9.91, "altered": 69, "tested": 696, "note": null}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 4.17, "altered": 6, "tested": 144, "note": null}]}, {"label": "TERT", "kind": "amplification", "gene": "TERT", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.18, "altered": 19, "tested": 367, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "mel_mskimpact_2020", "status": "observed", "frequency": 2.59, "altered": 18, "tested": 696, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 3.47, "altered": 5, "tested": 144, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "PDCD1", "kind": "SNV / small indel", "gene": "PDCD1", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.65, "altered": 16, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "observed", "frequency": 1.87, "altered": 13, "tested": 696, "note": null}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 2.78, "altered": 4, "tested": 144, "note": null}]}, {"label": "CTLA4", "kind": "SNV / small indel", "gene": "CTLA4", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 1.37, "altered": 6, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "observed", "frequency": 2.3, "altered": 16, "tested": 696, "note": null}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 2.78, "altered": 4, "tested": 144, "note": null}]}, {"label": "LAG3", "kind": "SNV / small indel", "gene": "LAG3", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.74, "altered": 12, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 4.86, "altered": 7, "tested": 144, "note": null}]}, {"label": "MITF", "kind": "SNV / small indel", "gene": "MITF", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.05, "altered": 9, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "observed", "frequency": 2.16, "altered": 15, "tested": 696, "note": null}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 0.69, "altered": 1, "tested": 144, "note": null}]}, {"label": "MITF", "kind": "amplification", "gene": "MITF", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.54, "altered": 24, "tested": 367, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "mel_mskimpact_2020", "status": "observed", "frequency": 3.45, "altered": 24, "tested": 696, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 0.69, "altered": 1, "tested": 144, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "PMEL", "kind": "SNV / small indel", "gene": "PMEL", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.88, "altered": 17, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 0.69, "altered": 1, "tested": 144, "note": null}]}, {"label": "MGAM", "kind": "SNV / small indel", "gene": "MGAM", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 39.5, "altered": 173, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 31.25, "altered": 45, "tested": 144, "note": null}]}, {"label": "MGAM", "kind": "amplification", "gene": "MGAM", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.27, "altered": 12, "tested": 367, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "mel_mskimpact_2020", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 696, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 0.69, "altered": 1, "tested": 144, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "DSCAM", "kind": "SNV / small indel", "gene": "DSCAM", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 34.47, "altered": 151, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 25.0, "altered": 36, "tested": 144, "note": null}]}, {"label": "MXRA5", "kind": "SNV / small indel", "gene": "MXRA5", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 32.65, "altered": 143, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 33.33, "altered": 48, "tested": 144, "note": null}]}, {"label": "PCDH15", "kind": "SNV / small indel", "gene": "PCDH15", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 32.19, "altered": 141, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 22.22, "altered": 32, "tested": 144, "note": null}]}, {"label": "COL4A4", "kind": "SNV / small indel", "gene": "COL4A4", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 30.82, "altered": 135, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 19.44, "altered": 28, "tested": 144, "note": null}]}, {"label": "SCN11A", "kind": "SNV / small indel", "gene": "SCN11A", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 29.91, "altered": 131, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 14.58, "altered": 21, "tested": 144, "note": null}]}, {"label": "MROH2B", "kind": "SNV / small indel", "gene": "MROH2B", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 29.68, "altered": 130, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 19.44, "altered": 28, "tested": 144, "note": null}]}, {"label": "UNC13C", "kind": "SNV / small indel", "gene": "UNC13C", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 29.0, "altered": 127, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 20.14, "altered": 29, "tested": 144, "note": null}]}, {"label": "SPHKAP", "kind": "SNV / small indel", "gene": "SPHKAP", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 29.0, "altered": 127, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 22.92, "altered": 33, "tested": 144, "note": null}]}, {"label": "PTPRT", "kind": "SNV / small indel", "gene": "PTPRT", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 28.31, "altered": 124, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "observed", "frequency": 36.49, "altered": 254, "tested": 696, "note": null}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 24.31, "altered": 35, "tested": 144, "note": null}]}, {"label": "SCN10A", "kind": "SNV / small indel", "gene": "SCN10A", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 27.63, "altered": 121, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 23.61, "altered": 34, "tested": 144, "note": null}]}, {"label": "FAM135B", "kind": "SNV / small indel", "gene": "FAM135B", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 27.63, "altered": 121, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 17.36, "altered": 25, "tested": 144, "note": null}]}, {"label": "FAM135B", "kind": "amplification", "gene": "FAM135B", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.36, "altered": 16, "tested": 367, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "mel_mskimpact_2020", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 696, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 4.17, "altered": 6, "tested": 144, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "ASXL3", "kind": "SNV / small indel", "gene": "ASXL3", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 27.63, "altered": 121, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 22.92, "altered": 33, "tested": 144, "note": null}]}, {"label": "SVEP1", "kind": "SNV / small indel", "gene": "SVEP1", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 27.17, "altered": 119, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 16.67, "altered": 24, "tested": 144, "note": null}]}, {"label": "ADGRG4", "kind": "SNV / small indel", "gene": "ADGRG4", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 27.17, "altered": 119, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 18.06, "altered": 26, "tested": 144, "note": null}]}, {"label": "MYH2", "kind": "SNV / small indel", "gene": "MYH2", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 26.94, "altered": 118, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 23.61, "altered": 34, "tested": 144, "note": null}]}, {"label": "GRIN2A", "kind": "SNV / small indel", "gene": "GRIN2A", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 26.94, "altered": 118, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "observed", "frequency": 31.18, "altered": 217, "tested": 696, "note": null}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 17.36, "altered": 25, "tested": 144, "note": null}]}, {"label": "RELN", "kind": "SNV / small indel", "gene": "RELN", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 26.71, "altered": 117, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 20.14, "altered": 29, "tested": 144, "note": null}]}, {"label": "ERICH3", "kind": "SNV / small indel", "gene": "ERICH3", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 26.71, "altered": 117, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 20.14, "altered": 29, "tested": 144, "note": null}]}, {"label": "DCC", "kind": "SNV / small indel", "gene": "DCC", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 26.03, "altered": 114, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 22.92, "altered": 33, "tested": 144, "note": null}]}, {"label": "SI", "kind": "SNV / small indel", "gene": "SI", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 25.8, "altered": 113, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 18.75, "altered": 27, "tested": 144, "note": null}]}, {"label": "MYH1", "kind": "SNV / small indel", "gene": "MYH1", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 25.57, "altered": 112, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 18.06, "altered": 26, "tested": 144, "note": null}]}, {"label": "TACC2", "kind": "SNV / small indel", "gene": "TACC2", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 25.11, "altered": 110, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 20.14, "altered": 29, "tested": 144, "note": null}]}, {"label": "STXBP5L", "kind": "SNV / small indel", "gene": "STXBP5L", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 24.89, "altered": 109, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 13.89, "altered": 20, "tested": 144, "note": null}]}, {"label": "CACNA1E", "kind": "SNV / small indel", "gene": "CACNA1E", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 24.89, "altered": 109, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 24.31, "altered": 35, "tested": 144, "note": null}]}, {"label": "STAB2", "kind": "SNV / small indel", "gene": "STAB2", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 24.66, "altered": 108, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 22.92, "altered": 33, "tested": 144, "note": null}]}, {"label": "TRANK1", "kind": "SNV / small indel", "gene": "TRANK1", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 24.43, "altered": 107, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 23.61, "altered": 34, "tested": 144, "note": null}]}, {"label": "SCN5A", "kind": "SNV / small indel", "gene": "SCN5A", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 24.43, "altered": 107, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 13.89, "altered": 20, "tested": 144, "note": null}]}, {"label": "NPAP1", "kind": "SNV / small indel", "gene": "NPAP1", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 24.43, "altered": 107, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 19.44, "altered": 28, "tested": 144, "note": null}]}, {"label": "FCGBP", "kind": "SNV / small indel", "gene": "FCGBP", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 24.2, "altered": 106, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 18.75, "altered": 27, "tested": 144, "note": null}]}, {"label": "FCGBP", "kind": "amplification", "gene": "FCGBP", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 367, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "mel_mskimpact_2020", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 696, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 3.47, "altered": 5, "tested": 144, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "FRAS1", "kind": "SNV / small indel", "gene": "FRAS1", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 23.97, "altered": 105, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 16.67, "altered": 24, "tested": 144, "note": null}]}, {"label": "C6", "kind": "SNV / small indel", "gene": "C6", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 23.97, "altered": 105, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 18.06, "altered": 26, "tested": 144, "note": null}]}, {"label": "ADAMTS20", "kind": "SNV / small indel", "gene": "ADAMTS20", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 23.97, "altered": 105, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 22.22, "altered": 32, "tested": 144, "note": null}]}, {"label": "COL7A1", "kind": "SNV / small indel", "gene": "COL7A1", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 23.74, "altered": 104, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 16.67, "altered": 24, "tested": 144, "note": null}]}, {"label": "COL3A1", "kind": "SNV / small indel", "gene": "COL3A1", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 23.74, "altered": 104, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 19.44, "altered": 28, "tested": 144, "note": null}]}, {"label": "CMYA5", "kind": "SNV / small indel", "gene": "CMYA5", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 23.74, "altered": 104, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 21.53, "altered": 31, "tested": 144, "note": null}]}, {"label": "CD163", "kind": "SNV / small indel", "gene": "CD163", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 23.74, "altered": 104, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 21.53, "altered": 31, "tested": 144, "note": null}]}, {"label": "TLL1", "kind": "SNV / small indel", "gene": "TLL1", "cells": [{"cohort": "skcm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 23.52, "altered": 103, "tested": 438, "note": null}, {"cohort": "mel_mskimpact_2020", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "mel_dfci_2019", "status": "observed", "frequency": 15.28, "altered": 22, "tested": 144, "note": null}]}]}