Nervous System Neoplasm — Genomics

Nervous System Neoplasm — Genomics · CancerIndex

Genomics

Gene alteration frequencies by cohort

48 cohorts mapped to this entity or its descendants. Each frequency is affected / profiled within one cohort; cohorts are shown separately because case selection, sequencing depth and definitions differ. By default the cohort with the most cases profiled is shown.

Anaplastic Oligodendroglioma and Anaplastic Oligoastrocytoma (MSK, Neuro Oncol 2017) odg_msk_2017MSK

22 cases with simple somatic mutation data · 22 cases total · 2026-01-12 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1

Cohorts mapped to a descendant (e.g. a subtype) are included because their cases belong to this entity by definition; the mapping and its match type are shown per cohort.

Brain Lower Grade Glioma TCGA-LGGTCGA

516 cases with simple somatic mutation data · 516 cases total · Data Release 46.0 · mapped to Low Grade Glioma CURATED_BROADER

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	IDH1	Ssm	402	516	77.9%	gdc
2	NLRP5	Ssm	284	516	55%	gdc
3	NLRP2	Ssm	283	516	54.8%	gdc
6	PEG3	Ssm	282	516	54.7%	gdc
5	NLRP11	Ssm	282	516	54.7%	gdc
4	PPP1R12C	Ssm	282	516	54.7%	gdc
7	NLRP8	Ssm	282	516	54.7%	gdc
17	NLRP13	Ssm	281	516	54.5%	gdc
16	ZSCAN1	Ssm	281	516	54.5%	gdc
15	NLRP7	Ssm	281	516	54.5%	gdc
14	ZNF460	Ssm	281	516	54.5%	gdc
13	FIZ1	Ssm	281	516	54.5%	gdc
12	ZNF551	Ssm	281	516	54.5%	gdc
11	NLRP9	Ssm	281	516	54.5%	gdc
10	EPS8L1	Ssm	281	516	54.5%	gdc
9	LILRA1	Ssm	281	516	54.5%	gdc
8	ZNF671	Ssm	281	516	54.5%	gdc
22	PTPRH	Ssm	281	516	54.5%	gdc
23	GP6	Ssm	281	516	54.5%	gdc
21	NLRP4	Ssm	281	516	54.5%	gdc
20	ZNF667	Ssm	281	516	54.5%	gdc
19	ZNF470	Ssm	281	516	54.5%	gdc
18	ZNF581	Ssm	281	516	54.5%	gdc
24	FAM71E2	Ssm	280	516	54.3%	gdc
57	RFPL4AL1	Ssm	280	516	54.3%	gdc
25	SBK2	Ssm	280	516	54.3%	gdc
26	ZNF416	Ssm	280	516	54.3%	gdc
27	ZNF264	Ssm	280	516	54.3%	gdc
28	SHISA7	Ssm	280	516	54.3%	gdc
29	EPN1	Ssm	280	516	54.3%	gdc

Data updated 22 days agoSource updated Data Release 46.0

Brain Lower Grade Glioma (TCGA, Firehose Legacy) lgg_tcgaTCGA

286 cases with simple somatic mutation data · 530 cases total · 2026-01-07 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	IDH1	Ssm	221	286	77.3%	cbioportal
2	TP53	Ssm	146	286	51%	cbioportal
3	ATRX	Ssm	118	286	41.3%	cbioportal
4	CIC	Ssm	56	286	19.6%	cbioportal
5	NOTCH1	Ssm	31	286	10.8%	cbioportal
6	TTN	Ssm	26	286	9.1%	cbioportal
7	FUBP1	Ssm	25	286	8.7%	cbioportal
8	PIK3CA	Ssm	24	286	8.4%	cbioportal
9	NF1	Ssm	17	286	5.9%	cbioportal
11	MUC16	Ssm	15	286	5.2%	cbioportal
10	EGFR	Ssm	15	286	5.2%	cbioportal
12	PIK3R1	Ssm	14	286	4.9%	cbioportal
13	PTEN	Ssm	13	286	4.5%	cbioportal
14	SMARCA4	Ssm	13	286	4.5%	cbioportal
15	ARID1A	Ssm	12	286	4.2%	cbioportal
16	IDH2	Ssm	12	286	4.2%	cbioportal
17	ZBTB20	Ssm	10	286	3.5%	cbioportal
19	BCOR	Ssm	9	286	3.1%	cbioportal
20	FLG	Ssm	9	286	3.1%	cbioportal
22	RYR2	Ssm	9	286	3.1%	cbioportal
21	OBSCN	Ssm	9	286	3.1%	cbioportal
18	APOB	Ssm	9	286	3.1%	cbioportal
23	FAT2	Ssm	8	286	2.8%	cbioportal
24	PKHD1	Ssm	8	286	2.8%	cbioportal
25	TCF12	Ssm	8	286	2.8%	cbioportal
27	MUC17	Ssm	7	286	2.4%	cbioportal
26	LRP2	Ssm	7	286	2.4%	cbioportal
28	MYH2	Ssm	7	286	2.4%	cbioportal
30	AFF2	Ssm	6	286	2.1%	cbioportal
29	ADGRV1	Ssm	6	286	2.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Brain Lower Grade Glioma (TCGA, PanCancer Atlas) lgg_tcga_pan_can_atlas_2018TCGA

514 cases with simple somatic mutation data · 514 cases total · 2026-06-03 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	IDH1	Ssm	395	514	76.8%	cbioportal
2	TP53	Ssm	249	514	48.4%	cbioportal
3	ATRX	Ssm	194	514	37.7%	cbioportal
4	CIC	Ssm	108	514	21%	cbioportal
5	TTN	Ssm	62	514	12.1%	cbioportal
6	FUBP1	Ssm	48	514	9.3%	cbioportal
7	PIK3CA	Ssm	42	514	8.2%	cbioportal
8	NOTCH1	Ssm	38	514	7.4%	cbioportal
9	MUC16	Ssm	36	514	7%	cbioportal
10	EGFR	Ssm	35	514	6.8%	cbioportal
11	NF1	Ssm	31	514	6%	cbioportal
12	SMARCA4	Ssm	25	514	4.9%	cbioportal
13	PTEN	Ssm	24	514	4.7%	cbioportal
14	FLG	Ssm	23	514	4.5%	cbioportal
15	PIK3R1	Ssm	22	514	4.3%	cbioportal
16	IDH2	Ssm	21	514	4.1%	cbioportal
17	RYR2	Ssm	21	514	4.1%	cbioportal
18	ZBTB20	Ssm	20	514	3.9%	cbioportal
19	ARID1A	Ssm	19	514	3.7%	cbioportal
21	OBSCN	Ssm	18	514	3.5%	cbioportal
20	NIPBL	Ssm	18	514	3.5%	cbioportal
22	PCLO	Ssm	18	514	3.5%	cbioportal
23	HMCN1	Ssm	17	514	3.3%	cbioportal
24	MUC17	Ssm	16	514	3.1%	cbioportal
27	LRP2	Ssm	15	514	2.9%	cbioportal
25	APOB	Ssm	15	514	2.9%	cbioportal
26	BCOR	Ssm	15	514	2.9%	cbioportal
29	TCF12	Ssm	14	514	2.7%	cbioportal
28	ADGRV1	Ssm	14	514	2.7%	cbioportal
30	FAT2	Ssm	13	514	2.5%	cbioportal

Data updated 22 days agoSource updated 2026-06-03

Brain Tumor PDXs (Mayo Clinic, Clin Cancer Res 2020) gbm_mayo_pdx_sarkaria_2019Mayo Clinic

105 cases with simple somatic mutation data · 106 cases total · 2026-01-07 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	MUC16	Ssm	60	105	57.1%	cbioportal
2	MUC4	Ssm	54	105	51.4%	cbioportal
3	MUC6	Ssm	52	105	49.5%	cbioportal
4	TTN	Ssm	48	105	45.7%	cbioportal
5	TAS2R46	Ssm	46	105	43.8%	cbioportal
6	PABPC3	Ssm	44	105	41.9%	cbioportal
8	TRBV7-7	Ssm	43	105	41%	cbioportal
7	MUC2	Ssm	43	105	41%	cbioportal
9	GXYLT1	Ssm	42	105	40%	cbioportal
11	PLIN4	Ssm	40	105	38.1%	cbioportal
10	GOLGA6L2	Ssm	40	105	38.1%	cbioportal
12	MST1P2	Ssm	36	105	34.3%	cbioportal
13	UBXN11	Ssm	34	105	32.4%	cbioportal
14	MUC3A	Ssm	33	105	31.4%	cbioportal
15	FRG2B	Ssm	32	105	30.5%	cbioportal
16	MUC5B	Ssm	32	105	30.5%	cbioportal
18	TP53	Ssm	31	105	29.5%	cbioportal
17	BAGE2	Ssm	31	105	29.5%	cbioportal
19	HLA-DRB5	Ssm	30	105	28.6%	cbioportal
20	MAP3K1	Ssm	30	105	28.6%	cbioportal
21	CNN2	Ssm	29	105	27.6%	cbioportal
23	HLA-DRB6	Ssm	29	105	27.6%	cbioportal
24	TRBV5-6	Ssm	29	105	27.6%	cbioportal
25	URI1	Ssm	29	105	27.6%	cbioportal
22	DDX12P	Ssm	29	105	27.6%	cbioportal
27	IGHV1-3	Ssm	28	105	26.7%	cbioportal
28	KCNJ12	Ssm	28	105	26.7%	cbioportal
29	LINC00955	Ssm	28	105	26.7%	cbioportal
30	WNK1	Ssm	28	105	26.7%	cbioportal
26	IGHJ6	Ssm	28	105	26.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Cutaneous Neurofibroma Data Resource (CTF, Scientific Data 2021) nfib_ctf_biobank_2025CTF

38 cases with simple somatic mutation data · 38 cases total · 2026-03-05 · mapped to Neurofibroma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	18	38	47.4%	cbioportal
2	ADGRV1	Ssm	12	38	31.6%	cbioportal
3	DST	Ssm	11	38	28.9%	cbioportal
4	NF1	Ssm	11	38	28.9%	cbioportal
8	MUC16	Ssm	9	38	23.7%	cbioportal
5	APOB	Ssm	9	38	23.7%	cbioportal
11	UNC80	Ssm	9	38	23.7%	cbioportal
10	PRKDC	Ssm	9	38	23.7%	cbioportal
6	CPD	Ssm	9	38	23.7%	cbioportal
9	MUC19	Ssm	9	38	23.7%	cbioportal
7	DNAH14	Ssm	9	38	23.7%	cbioportal
15	EP300	Ssm	8	38	21.1%	cbioportal
14	CEP192	Ssm	8	38	21.1%	cbioportal
13	ANKRD12	Ssm	8	38	21.1%	cbioportal
12	ABCA13	Ssm	8	38	21.1%	cbioportal
16	FAT4	Ssm	8	38	21.1%	cbioportal
22	SYNE1	Ssm	8	38	21.1%	cbioportal
21	MYCBP2	Ssm	8	38	21.1%	cbioportal
20	LRTM3	Ssm	8	38	21.1%	cbioportal
24	UTP20	Ssm	8	38	21.1%	cbioportal
19	JMJD1C	Ssm	8	38	21.1%	cbioportal
18	HMCN1	Ssm	8	38	21.1%	cbioportal
17	FSIP2	Ssm	8	38	21.1%	cbioportal
23	UBR4	Ssm	8	38	21.1%	cbioportal
25	AHNAK	Ssm	7	38	18.4%	cbioportal
26	BAHCC1	Ssm	7	38	18.4%	cbioportal
27	BPTF	Ssm	7	38	18.4%	cbioportal
28	C3	Ssm	7	38	18.4%	cbioportal
29	COL12A1	Ssm	7	38	18.4%	cbioportal
30	CRYBG3	Ssm	7	38	18.4%	cbioportal

Data updated 22 days agoSource updated 2026-03-05

Diffuse Glioma (GLASS Consortium) difg_glassGLASS Consortium

629 cases with simple somatic mutation data · 693 cases total · 2026-08-20 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	273	629	43.4%	cbioportal
2	IDH1	Ssm	227	629	36.1%	cbioportal
3	TTN	Ssm	147	629	23.4%	cbioportal
4	PTEN	Ssm	143	629	22.7%	cbioportal
5	ATRX	Ssm	139	629	22.1%	cbioportal
6	EGFR	Ssm	112	629	17.8%	cbioportal
7	MUC16	Ssm	106	629	16.9%	cbioportal
8	NF1	Ssm	97	629	15.4%	cbioportal
9	RYR2	Ssm	81	629	12.9%	cbioportal
10	OBSCN	Ssm	70	629	11.1%	cbioportal
11	PIK3CA	Ssm	69	629	11%	cbioportal
12	PKHD1	Ssm	66	629	10.5%	cbioportal
13	MUC17	Ssm	65	629	10.3%	cbioportal
14	MUC12	Ssm	62	629	9.9%	cbioportal
15	FLG	Ssm	61	629	9.7%	cbioportal
17	HMCN1	Ssm	58	629	9.2%	cbioportal
16	ADGRV1	Ssm	58	629	9.2%	cbioportal
19	LRP2	Ssm	56	629	8.9%	cbioportal
18	AHNAK2	Ssm	56	629	8.9%	cbioportal
22	RYR1	Ssm	54	629	8.6%	cbioportal
20	CSMD3	Ssm	54	629	8.6%	cbioportal
21	PCLO	Ssm	54	629	8.6%	cbioportal
23	CIC	Ssm	53	629	8.4%	cbioportal
24	DNAH11	Ssm	52	629	8.3%	cbioportal
25	MUC5B	Ssm	51	629	8.1%	cbioportal
26	NEB	Ssm	51	629	8.1%	cbioportal
27	DNAH5	Ssm	49	629	7.8%	cbioportal
28	RB1	Ssm	49	629	7.8%	cbioportal
29	USH2A	Ssm	48	629	7.6%	cbioportal
30	AHNAK	Ssm	47	629	7.5%	cbioportal

Data updated 22 days agoSource updated 2026-08-20

Diffuse Glioma (GLASS Consortium, Nature 2019) difg_glass_2019GLASS Consortium

444 cases with simple somatic mutation data · 444 cases total · 2026-01-07 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	206	444	46.4%	cbioportal
2	IDH1	Ssm	174	444	39.2%	cbioportal
3	TTN	Ssm	109	444	24.5%	cbioportal
4	ATRX	Ssm	103	444	23.2%	cbioportal
5	PTEN	Ssm	101	444	22.7%	cbioportal
6	EGFR	Ssm	83	444	18.7%	cbioportal
7	MUC16	Ssm	80	444	18%	cbioportal
8	NF1	Ssm	71	444	16%	cbioportal
9	RYR2	Ssm	59	444	13.3%	cbioportal
10	OBSCN	Ssm	57	444	12.8%	cbioportal
11	FLG	Ssm	53	444	11.9%	cbioportal
12	PKHD1	Ssm	51	444	11.5%	cbioportal
13	PIK3CA	Ssm	50	444	11.3%	cbioportal
15	MUC17	Ssm	48	444	10.8%	cbioportal
14	ADGRV1	Ssm	48	444	10.8%	cbioportal
17	HMCN1	Ssm	44	444	9.9%	cbioportal
18	LRP2	Ssm	44	444	9.9%	cbioportal
16	CIC	Ssm	44	444	9.9%	cbioportal
19	DNAH11	Ssm	43	444	9.7%	cbioportal
20	DNAH5	Ssm	42	444	9.5%	cbioportal
21	AHNAK2	Ssm	41	444	9.2%	cbioportal
22	CSMD3	Ssm	41	444	9.2%	cbioportal
24	NEB	Ssm	41	444	9.2%	cbioportal
23	MUC12	Ssm	41	444	9.2%	cbioportal
25	SYNE1	Ssm	40	444	9%	cbioportal
26	MUC5B	Ssm	39	444	8.8%	cbioportal
28	USH2A	Ssm	38	444	8.6%	cbioportal
27	PCLO	Ssm	38	444	8.6%	cbioportal
29	AHNAK	Ssm	37	444	8.3%	cbioportal
30	RB1	Ssm	36	444	8.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Diffuse Glioma (TCGA GDC, 2025) difg_tcga_gdcTCGA GDC

523 cases with simple somatic mutation data · 530 cases total · 2026-01-19 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	IDH1	Ssm	405	523	77.4%	cbioportal
2	TP53	Ssm	250	523	47.8%	cbioportal
3	ATRX	Ssm	192	523	36.7%	cbioportal
4	CIC	Ssm	112	523	21.4%	cbioportal
5	TTN	Ssm	56	523	10.7%	cbioportal
6	FUBP1	Ssm	46	523	8.8%	cbioportal
7	PIK3CA	Ssm	43	523	8.2%	cbioportal
8	NOTCH1	Ssm	38	523	7.3%	cbioportal
9	MUC16	Ssm	33	523	6.3%	cbioportal
10	EGFR	Ssm	31	523	5.9%	cbioportal
11	NF1	Ssm	30	523	5.7%	cbioportal
12	PTEN	Ssm	25	523	4.8%	cbioportal
13	PIK3R1	Ssm	23	523	4.4%	cbioportal
14	SMARCA4	Ssm	23	523	4.4%	cbioportal
15	IDH2	Ssm	21	523	4%	cbioportal
16	RYR2	Ssm	20	523	3.8%	cbioportal
17	NIPBL	Ssm	18	523	3.4%	cbioportal
18	ZBTB20	Ssm	17	523	3.3%	cbioportal
19	FLG	Ssm	16	523	3.1%	cbioportal
20	ARID1A	Ssm	15	523	2.9%	cbioportal
21	BCOR	Ssm	15	523	2.9%	cbioportal
22	MUC17	Ssm	14	523	2.7%	cbioportal
24	TCF12	Ssm	14	523	2.7%	cbioportal
23	PCLO	Ssm	14	523	2.7%	cbioportal
26	ZNF292	Ssm	13	523	2.5%	cbioportal
25	LRP2	Ssm	13	523	2.5%	cbioportal
30	FRAS1	Ssm	12	523	2.3%	cbioportal
29	FAT2	Ssm	12	523	2.3%	cbioportal
27	APOB	Ssm	12	523	2.3%	cbioportal
28	ARID2	Ssm	12	523	2.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-19

Glioblastoma (Columbia, Nat Med. 2019) gbm_columbia_2019Columbia

32 cases with simple somatic mutation data · 42 cases total · 2026-01-07 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PTEN	Ssm	6	32	18.8%	cbioportal
2	IDH1	Ssm	4	32	12.5%	cbioportal
3	RYR2	Ssm	4	32	12.5%	cbioportal
7	NF1	Ssm	3	32	9.4%	cbioportal
6	MUC16	Ssm	3	32	9.4%	cbioportal
5	FAM83H	Ssm	3	32	9.4%	cbioportal
9	TP53	Ssm	3	32	9.4%	cbioportal
4	DSG3	Ssm	3	32	9.4%	cbioportal
8	PIK3CA	Ssm	3	32	9.4%	cbioportal
21	FILIP1	Ssm	2	32	6.3%	cbioportal
10	ABCA6	Ssm	2	32	6.3%	cbioportal
11	ABCB5	Ssm	2	32	6.3%	cbioportal
12	ARHGEF11	Ssm	2	32	6.3%	cbioportal
13	BRAF	Ssm	2	32	6.3%	cbioportal
14	CIC	Ssm	2	32	6.3%	cbioportal
15	CNTNAP5	Ssm	2	32	6.3%	cbioportal
16	COL6A2	Ssm	2	32	6.3%	cbioportal
17	CSMD3	Ssm	2	32	6.3%	cbioportal
18	DOCK10	Ssm	2	32	6.3%	cbioportal
19	FAT2	Ssm	2	32	6.3%	cbioportal
20	FGL2	Ssm	2	32	6.3%	cbioportal
22	FUBP1	Ssm	2	32	6.3%	cbioportal
23	HYDIN	Ssm	2	32	6.3%	cbioportal
24	LAMA3	Ssm	2	32	6.3%	cbioportal
25	LRP2	Ssm	2	32	6.3%	cbioportal
26	LRTM3	Ssm	2	32	6.3%	cbioportal
27	MAN2B2	Ssm	2	32	6.3%	cbioportal
28	MTOR	Ssm	2	32	6.3%	cbioportal
29	MYH1	Ssm	2	32	6.3%	cbioportal
30	N4BP2	Ssm	2	32	6.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Glioblastoma (CPTAC, Cell 2021) gbm_cptac_2021CPTAC

99 cases with simple somatic mutation data · 99 cases total · 2026-01-07 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	32	99	32.3%	cbioportal
2	PTEN	Ssm	27	99	27.3%	cbioportal
3	TTN	Ssm	20	99	20.2%	cbioportal
4	MUC4	Ssm	18	99	18.2%	cbioportal
5	EGFR	Ssm	17	99	17.2%	cbioportal
6	NF1	Ssm	15	99	15.2%	cbioportal
7	PIK3CA	Ssm	11	99	11.1%	cbioportal
9	RB1	Ssm	10	99	10.1%	cbioportal
8	ATRX	Ssm	10	99	10.1%	cbioportal
10	MUC16	Ssm	9	99	9.1%	cbioportal
11	RYR2	Ssm	9	99	9.1%	cbioportal
14	RYR3	Ssm	8	99	8.1%	cbioportal
12	ARHGAP5	Ssm	8	99	8.1%	cbioportal
13	FLG	Ssm	8	99	8.1%	cbioportal
17	IDH1	Ssm	7	99	7.1%	cbioportal
18	MUC17	Ssm	7	99	7.1%	cbioportal
20	XPOT	Ssm	7	99	7.1%	cbioportal
19	PIK3R1	Ssm	7	99	7.1%	cbioportal
15	HCN1	Ssm	7	99	7.1%	cbioportal
16	HMCN1	Ssm	7	99	7.1%	cbioportal
25	LRP2	Ssm	6	99	6.1%	cbioportal
21	AGL	Ssm	6	99	6.1%	cbioportal
22	BRAF	Ssm	6	99	6.1%	cbioportal
23	DOCK6	Ssm	6	99	6.1%	cbioportal
24	FNDC1	Ssm	6	99	6.1%	cbioportal
26	MAGEC1	Ssm	6	99	6.1%	cbioportal
27	PARP4	Ssm	6	99	6.1%	cbioportal
29	ATP10A	Ssm	5	99	5.1%	cbioportal
30	ATP4A	Ssm	5	99	5.1%	cbioportal
28	ADAMTS20	Ssm	5	99	5.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Glioblastoma Multiforme TCGA-GBMTCGA

601 cases with simple somatic mutation data · 617 cases total · Data Release 46.0 · mapped to Glioblastoma CURATED_BROADER

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PTEN	Ssm	461	601	76.7%	gdc
3	ATRNL1	Ssm	456	601	75.9%	gdc
4	MYOF	Ssm	456	601	75.9%	gdc
2	SEC23IP	Ssm	456	601	75.9%	gdc
6	EGFR	Ssm	455	601	75.7%	gdc
7	INPP5F	Ssm	455	601	75.7%	gdc
8	PRLHR	Ssm	455	601	75.7%	gdc
9	CACUL1	Ssm	455	601	75.7%	gdc
10	EIF3A	Ssm	455	601	75.7%	gdc
11	SORBS1	Ssm	455	601	75.7%	gdc
12	MCMBP	Ssm	455	601	75.7%	gdc
5	BAG3	Ssm	455	601	75.7%	gdc
20	RGS10	Ssm	454	601	75.5%	gdc
29	HSPA12A	Ssm	454	601	75.5%	gdc
28	PLPP4	Ssm	454	601	75.5%	gdc
27	TBC1D12	Ssm	454	601	75.5%	gdc
26	PNLIPRP3	Ssm	454	601	75.5%	gdc
25	RAB11FIP2	Ssm	454	601	75.5%	gdc
24	CTBP2	Ssm	454	601	75.5%	gdc
23	ACTA2	Ssm	454	601	75.5%	gdc
22	LIPK	Ssm	454	601	75.5%	gdc
21	CYP26C1	Ssm	454	601	75.5%	gdc
19	DENND10	Ssm	454	601	75.5%	gdc
18	PNLIPRP1	Ssm	454	601	75.5%	gdc
17	PDZD8	Ssm	454	601	75.5%	gdc
16	SLC18A2	Ssm	454	601	75.5%	gdc
15	GFRA1	Ssm	454	601	75.5%	gdc
14	SFXN4	Ssm	454	601	75.5%	gdc
13	TIAL1	Ssm	454	601	75.5%	gdc
30	GRK5	Ssm	454	601	75.5%	gdc

Data updated 22 days agoSource updated Data Release 46.0

Glioblastoma Multiforme (TCGA, Firehose Legacy) gbm_tcgaTCGA

290 cases with simple somatic mutation data · 619 cases total · 2026-01-07 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PTEN	Ssm	90	290	31%	cbioportal
2	TP53	Ssm	84	290	29%	cbioportal
3	EGFR	Ssm	77	290	26.6%	cbioportal
4	TTN	Ssm	74	290	25.5%	cbioportal
5	MUC16	Ssm	47	290	16.2%	cbioportal
6	PIK3R1	Ssm	33	290	11.4%	cbioportal
7	FLG	Ssm	32	290	11%	cbioportal
9	PIK3CA	Ssm	32	290	11%	cbioportal
8	NF1	Ssm	32	290	11%	cbioportal
10	RYR2	Ssm	29	290	10%	cbioportal
11	PCLO	Ssm	28	290	9.7%	cbioportal
12	SPTA1	Ssm	27	290	9.3%	cbioportal
13	RB1	Ssm	25	290	8.6%	cbioportal
14	MUC17	Ssm	23	290	7.9%	cbioportal
15	AHNAK2	Ssm	19	290	6.6%	cbioportal
16	HMCN1	Ssm	19	290	6.6%	cbioportal
17	LRP2	Ssm	18	290	6.2%	cbioportal
18	RYR3	Ssm	18	290	6.2%	cbioportal
19	ATRX	Ssm	17	290	5.9%	cbioportal
20	FRG1BP	Ssm	17	290	5.9%	cbioportal
24	TCHH	Ssm	16	290	5.5%	cbioportal
22	OBSCN	Ssm	16	290	5.5%	cbioportal
21	DNAH5	Ssm	16	290	5.5%	cbioportal
23	PKHD1	Ssm	16	290	5.5%	cbioportal
25	USH2A	Ssm	16	290	5.5%	cbioportal
26	IDH1	Ssm	15	290	5.2%	cbioportal
27	KEL	Ssm	15	290	5.2%	cbioportal
30	CNTNAP2	Ssm	14	290	4.8%	cbioportal
29	APOB	Ssm	14	290	4.8%	cbioportal
28	ADGRV1	Ssm	14	290	4.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Glioblastoma Multiforme (TCGA GDC, 2025) gbm_tcga_gdcTCGA GDC

377 cases with simple somatic mutation data · 611 cases total · 2026-01-13 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PTEN	Ssm	126	377	33.4%	cbioportal
2	TP53	Ssm	121	377	32.1%	cbioportal
3	EGFR	Ssm	85	377	22.5%	cbioportal
4	TTN	Ssm	81	377	21.5%	cbioportal
5	MUC16	Ssm	49	377	13%	cbioportal
6	FLG	Ssm	40	377	10.6%	cbioportal
7	NF1	Ssm	39	377	10.3%	cbioportal
8	RYR2	Ssm	38	377	10.1%	cbioportal
9	PIK3CA	Ssm	36	377	9.5%	cbioportal
12	PIK3R1	Ssm	35	377	9.3%	cbioportal
10	ATRX	Ssm	35	377	9.3%	cbioportal
11	LRP2	Ssm	35	377	9.3%	cbioportal
13	RB1	Ssm	34	377	9%	cbioportal
14	SPTA1	Ssm	28	377	7.4%	cbioportal
15	PCLO	Ssm	27	377	7.2%	cbioportal
16	LRP1	Ssm	26	377	6.9%	cbioportal
17	MUC17	Ssm	25	377	6.6%	cbioportal
18	IDH1	Ssm	24	377	6.4%	cbioportal
19	AHNAK2	Ssm	22	377	5.8%	cbioportal
21	PKHD1	Ssm	22	377	5.8%	cbioportal
20	HMCN1	Ssm	22	377	5.8%	cbioportal
23	DNAH5	Ssm	21	377	5.6%	cbioportal
22	COL6A3	Ssm	21	377	5.6%	cbioportal
24	PIK3C2B	Ssm	20	377	5.3%	cbioportal
25	RIMS2	Ssm	20	377	5.3%	cbioportal
26	DNAH2	Ssm	19	377	5%	cbioportal
29	USH2A	Ssm	19	377	5%	cbioportal
28	SYNE1	Ssm	19	377	5%	cbioportal
27	OBSCN	Ssm	19	377	5%	cbioportal
30	KIF2B	Ssm	18	377	4.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Glioblastoma Multiforme (TCGA, PanCancer Atlas) gbm_tcga_pan_can_atlas_2018TCGA

397 cases with simple somatic mutation data · 592 cases total · 2026-06-05 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PTEN	Ssm	133	397	33.5%	cbioportal
2	TP53	Ssm	125	397	31.5%	cbioportal
3	TTN	Ssm	101	397	25.4%	cbioportal
4	EGFR	Ssm	94	397	23.7%	cbioportal
5	MUC16	Ssm	61	397	15.4%	cbioportal
6	FLG	Ssm	53	397	13.4%	cbioportal
7	NF1	Ssm	46	397	11.6%	cbioportal
8	RYR2	Ssm	43	397	10.8%	cbioportal
9	PIK3R1	Ssm	39	397	9.8%	cbioportal
11	RB1	Ssm	38	397	9.6%	cbioportal
10	PIK3CA	Ssm	38	397	9.6%	cbioportal
12	SPTA1	Ssm	38	397	9.6%	cbioportal
13	ATRX	Ssm	37	397	9.3%	cbioportal
14	SYNE1	Ssm	34	397	8.6%	cbioportal
15	LRP2	Ssm	29	397	7.3%	cbioportal
16	MUC17	Ssm	29	397	7.3%	cbioportal
17	PCLO	Ssm	28	397	7.1%	cbioportal
19	PKHD1	Ssm	27	397	6.8%	cbioportal
18	HMCN1	Ssm	27	397	6.8%	cbioportal
20	COL6A3	Ssm	26	397	6.5%	cbioportal
21	OBSCN	Ssm	26	397	6.5%	cbioportal
22	AHNAK2	Ssm	25	397	6.3%	cbioportal
23	IDH1	Ssm	25	397	6.3%	cbioportal
24	DNAH2	Ssm	24	397	6%	cbioportal
25	DNAH5	Ssm	24	397	6%	cbioportal
26	FAT2	Ssm	22	397	5.5%	cbioportal
27	FLG2	Ssm	22	397	5.5%	cbioportal
28	USH2A	Ssm	22	397	5.5%	cbioportal
29	APOB	Ssm	21	397	5.3%	cbioportal
30	CFAP47	Ssm	21	397	5.3%	cbioportal

Data updated 22 days agoSource updated 2026-06-05

Glioblastoma (TCGA, Cell 2013) gbm_tcga_pub2013TCGA

291 cases with simple somatic mutation data · 577 cases total · 2026-01-07 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PTEN	Ssm	69	291	23.7%	cbioportal
2	EGFR	Ssm	61	291	21%	cbioportal
3	TP53	Ssm	59	291	20.3%	cbioportal
4	TTN	Ssm	58	291	19.9%	cbioportal
5	MUC16	Ssm	36	291	12.4%	cbioportal
6	PIK3R1	Ssm	32	291	11%	cbioportal
7	NF1	Ssm	27	291	9.3%	cbioportal
9	SPTA1	Ssm	26	291	8.9%	cbioportal
8	PIK3CA	Ssm	26	291	8.9%	cbioportal
10	FLG	Ssm	24	291	8.2%	cbioportal
11	PCLO	Ssm	24	291	8.2%	cbioportal
12	RYR2	Ssm	21	291	7.2%	cbioportal
13	RB1	Ssm	20	291	6.9%	cbioportal
14	MUC17	Ssm	19	291	6.5%	cbioportal
15	HMCN1	Ssm	18	291	6.2%	cbioportal
16	AHNAK2	Ssm	16	291	5.5%	cbioportal
18	USH2A	Ssm	15	291	5.2%	cbioportal
17	IDH1	Ssm	15	291	5.2%	cbioportal
19	LRP2	Ssm	14	291	4.8%	cbioportal
20	SYNE1	Ssm	14	291	4.8%	cbioportal
21	TCHH	Ssm	14	291	4.8%	cbioportal
22	COL6A3	Ssm	13	291	4.5%	cbioportal
25	RELN	Ssm	12	291	4.1%	cbioportal
23	ADGRV1	Ssm	12	291	4.1%	cbioportal
24	OBSCN	Ssm	12	291	4.1%	cbioportal
26	CNTNAP2	Ssm	11	291	3.8%	cbioportal
30	RYR3	Ssm	11	291	3.8%	cbioportal
27	DNAH5	Ssm	11	291	3.8%	cbioportal
28	FRAS1	Ssm	11	291	3.8%	cbioportal
29	KEL	Ssm	11	291	3.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Glioblastoma (TCGA, Nature 2008) gbm_tcga_pubTCGA

91 cases with simple somatic mutation data · 206 cases total · 2026-02-19 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	31	91	34.1%	cbioportal
2	PTEN	Ssm	29	91	31.9%	cbioportal
3	EGFR	Ssm	15	91	16.5%	cbioportal
4	NF1	Ssm	13	91	14.3%	cbioportal
6	RB1	Ssm	9	91	9.9%	cbioportal
5	PIK3R1	Ssm	9	91	9.9%	cbioportal
7	ERBB2	Ssm	7	91	7.7%	cbioportal
8	PIK3CA	Ssm	6	91	6.6%	cbioportal
9	BCL11A	Ssm	4	91	4.4%	cbioportal
10	CHEK2	Ssm	4	91	4.4%	cbioportal
11	MSH6	Ssm	4	91	4.4%	cbioportal
15	EP300	Ssm	3	91	3.3%	cbioportal
16	FN1	Ssm	3	91	3.3%	cbioportal
17	ITGB3	Ssm	3	91	3.3%	cbioportal
18	KMT2B	Ssm	3	91	3.3%	cbioportal
20	TNK2	Ssm	3	91	3.3%	cbioportal
19	TNC	Ssm	3	91	3.3%	cbioportal
12	BRCA2	Ssm	3	91	3.3%	cbioportal
13	CDKN2A	Ssm	3	91	3.3%	cbioportal
14	DST	Ssm	3	91	3.3%	cbioportal
30	COL1A1	Ssm	2	91	2.2%	cbioportal
21	A2M	Ssm	2	91	2.2%	cbioportal
22	ABCC4	Ssm	2	91	2.2%	cbioportal
23	ADAMTSL3	Ssm	2	91	2.2%	cbioportal
24	ADGRB3	Ssm	2	91	2.2%	cbioportal
25	AGAP2	Ssm	2	91	2.2%	cbioportal
26	BCAR1	Ssm	2	91	2.2%	cbioportal
27	BCR	Ssm	2	91	2.2%	cbioportal
28	CENPF	Ssm	2	91	2.2%	cbioportal
29	CHAT	Ssm	2	91	2.2%	cbioportal

Data updated 22 days agoSource updated 2026-02-19

Glioma (MSK, Clin Cancer Res 2019) glioma_mskcc_2019MSK

1,004 cases with simple somatic mutation data · 1,004 cases total · 2026-01-07 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TERT	Ssm	604	882	68.5%	cbioportal
2	TP53	Ssm	405	1,004	40.3%	cbioportal
3	IDH1	Ssm	339	1,004	33.8%	cbioportal
4	PTEN	Ssm	246	1,004	24.5%	cbioportal
5	ATRX	Ssm	222	1,004	22.1%	cbioportal
6	EGFR	Ssm	146	1,004	14.5%	cbioportal
7	NF1	Ssm	142	1,004	14.1%	cbioportal
8	CIC	Ssm	128	1,004	12.7%	cbioportal
9	PIK3CA	Ssm	111	1,004	11.1%	cbioportal
10	RB1	Ssm	86	1,004	8.6%	cbioportal
11	PIK3R1	Ssm	83	1,004	8.3%	cbioportal
138	LRP1B	Ssm	13	167	7.8%	cbioportal
12	NOTCH1	Ssm	73	1,004	7.3%	cbioportal
15	FAT1	Ssm	48	882	5.4%	cbioportal
13	SETD2	Ssm	54	1,004	5.4%	cbioportal
14	SMARCA4	Ssm	51	1,004	5.1%	cbioportal
16	KMT2D	Ssm	48	1,004	4.8%	cbioportal
20	FUBP1	Ssm	42	882	4.8%	cbioportal
17	PDGFRA	Ssm	47	1,004	4.7%	cbioportal
18	ARID1A	Ssm	44	1,004	4.4%	cbioportal
19	ARID2	Ssm	44	1,004	4.4%	cbioportal
21	PTPN11	Ssm	42	1,004	4.2%	cbioportal
22	BRAF	Ssm	41	1,004	4.1%	cbioportal
23	STAG2	Ssm	40	1,004	4%	cbioportal
27	KMT2C	Ssm	34	882	3.9%	cbioportal
26	ARID1B	Ssm	34	882	3.9%	cbioportal
24	BCOR	Ssm	38	1,004	3.8%	cbioportal
25	NOTCH3	Ssm	36	1,004	3.6%	cbioportal
28	MED12	Ssm	34	1,004	3.4%	cbioportal
56	ZFHX3	Ssm	24	712	3.4%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Glioma (MSK, Nature 2019) glioma_msk_2018MSK

91 cases with simple somatic mutation data · 91 cases total · 2026-01-07 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TERT	Ssm	56	91	61.5%	cbioportal
2	TP53	Ssm	54	91	59.3%	cbioportal
3	IDH1	Ssm	25	91	27.5%	cbioportal
4	ATRX	Ssm	23	91	25.3%	cbioportal
5	PTEN	Ssm	19	91	20.9%	cbioportal
6	PIK3CA	Ssm	17	91	18.7%	cbioportal
7	EGFR	Ssm	16	91	17.6%	cbioportal
8	ARID2	Ssm	15	91	16.5%	cbioportal
11	ZFHX3	Ssm	13	91	14.3%	cbioportal
9	ARID1A	Ssm	13	91	14.3%	cbioportal
10	NF1	Ssm	13	91	14.3%	cbioportal
12	CIC	Ssm	12	91	13.2%	cbioportal
14	FAT1	Ssm	10	91	11%	cbioportal
15	NOTCH3	Ssm	10	91	11%	cbioportal
16	RB1	Ssm	10	91	11%	cbioportal
13	CREBBP	Ssm	10	91	11%	cbioportal
17	PDGFRA	Ssm	9	91	9.9%	cbioportal
22	SMARCA4	Ssm	8	91	8.8%	cbioportal
21	POLE	Ssm	8	91	8.8%	cbioportal
20	PIK3R2	Ssm	8	91	8.8%	cbioportal
19	MTOR	Ssm	8	91	8.8%	cbioportal
18	KMT2C	Ssm	8	91	8.8%	cbioportal
26	MAP3K1	Ssm	7	91	7.7%	cbioportal
29	NCOA3	Ssm	7	91	7.7%	cbioportal
28	MST1R	Ssm	7	91	7.7%	cbioportal
27	MSH6	Ssm	7	91	7.7%	cbioportal
25	KMT2D	Ssm	7	91	7.7%	cbioportal
24	EPHA5	Ssm	7	91	7.7%	cbioportal
23	AR	Ssm	7	91	7.7%	cbioportal
33	PTPRS	Ssm	7	91	7.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

IDH-mutated Diffuse Glioma (MSK, Clin Cancer Res 2024) difg_msk_2023MSK

73 cases with simple somatic mutation data · 73 cases total · 2026-01-16 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	IDH1	Ssm	68	73	93.2%	cbioportal
2	TERT	Ssm	45	73	61.6%	cbioportal
4	TP53	Ssm	31	73	42.5%	cbioportal
3	CIC	Ssm	31	73	42.5%	cbioportal
5	ATRX	Ssm	25	73	34.2%	cbioportal
6	NOTCH1	Ssm	12	73	16.4%	cbioportal
7	FUBP1	Ssm	11	73	15.1%	cbioportal
8	ARID1B	Ssm	8	73	11%	cbioportal
11	PIK3CA	Ssm	7	73	9.6%	cbioportal
9	KMT2C	Ssm	7	73	9.6%	cbioportal
12	SMARCA4	Ssm	7	73	9.6%	cbioportal
10	KMT2D	Ssm	7	73	9.6%	cbioportal
13	FAT1	Ssm	6	73	8.2%	cbioportal
38	KMT2B	Ssm	3	40	7.5%	cbioportal
47	PRKD1	Ssm	3	40	7.5%	cbioportal
17	PDGFRB	Ssm	5	73	6.8%	cbioportal
15	ASXL1	Ssm	5	73	6.8%	cbioportal
16	IDH2	Ssm	5	73	6.8%	cbioportal
14	ARID1A	Ssm	5	73	6.8%	cbioportal
23	NF1	Ssm	4	73	5.5%	cbioportal
18	BRCA1	Ssm	4	73	5.5%	cbioportal
21	DOT1L	Ssm	4	73	5.5%	cbioportal
24	SETD2	Ssm	4	73	5.5%	cbioportal
20	DIS3	Ssm	4	73	5.5%	cbioportal
19	CREBBP	Ssm	4	73	5.5%	cbioportal
22	MDC1	Ssm	4	73	5.5%	cbioportal
90	MSI1	Ssm	2	40	5%	cbioportal
86	MAPKAP1	Ssm	2	40	5%	cbioportal
106	RTEL1	Ssm	2	40	5%	cbioportal
111	TP53BP1	Ssm	2	40	5%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Low-Grade Gliomas (UCSF, Science 2014) lgg_ucsf_2014UCSF

61 cases with simple somatic mutation data · 61 cases total · 2026-01-07 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	IDH1	Ssm	61	61	100%	cbioportal
2	TP53	Ssm	55	61	90.2%	cbioportal
3	ATRX	Ssm	50	61	82%	cbioportal
4	SMARCA4	Ssm	10	61	16.4%	cbioportal
5	BOD1L1	Ssm	9	61	14.8%	cbioportal
6	TMPRSS15	Ssm	9	61	14.8%	cbioportal
7	DCHS2	Ssm	8	61	13.1%	cbioportal
8	FAT1	Ssm	8	61	13.1%	cbioportal
9	FLG	Ssm	8	61	13.1%	cbioportal
10	MUC16	Ssm	8	61	13.1%	cbioportal
15	COL6A3	Ssm	7	61	11.5%	cbioportal
11	ANK3	Ssm	7	61	11.5%	cbioportal
22	TEX11	Ssm	7	61	11.5%	cbioportal
12	ARNT	Ssm	7	61	11.5%	cbioportal
13	CDHR3	Ssm	7	61	11.5%	cbioportal
14	COL12A1	Ssm	7	61	11.5%	cbioportal
19	MUC6	Ssm	7	61	11.5%	cbioportal
18	KMT2C	Ssm	7	61	11.5%	cbioportal
17	FLNB	Ssm	7	61	11.5%	cbioportal
20	PCLO	Ssm	7	61	11.5%	cbioportal
16	DYTN	Ssm	7	61	11.5%	cbioportal
21	SPHKAP	Ssm	7	61	11.5%	cbioportal
23	ADGRV1	Ssm	6	61	9.8%	cbioportal
29	CDKN2A	Ssm	6	61	9.8%	cbioportal
28	CCDC91	Ssm	6	61	9.8%	cbioportal
27	BCL11B	Ssm	6	61	9.8%	cbioportal
26	ATP2B4	Ssm	6	61	9.8%	cbioportal
25	ASPM	Ssm	6	61	9.8%	cbioportal
30	CNTNAP2	Ssm	6	61	9.8%	cbioportal
24	APOB	Ssm	6	61	9.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Malignant Peripheral Nerve Sheath Tumor (MSK, Nat Genet 2014) mpnst_mskccMSK

15 cases with simple somatic mutation data · 15 cases total · 2026-01-08 · mapped to Malignant Peripheral Nerve Sheath Tumor EXACT_IDENTIFIER

cbioportalObserved19 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	EED	Ssm	5	15	33.3%	cbioportal
2	NF1	Ssm	4	15	26.7%	cbioportal
4	DAXX	Ssm	2	15	13.3%	cbioportal
3	BCL2L1	Ssm	2	15	13.3%	cbioportal
5	HNF1A	Ssm	2	15	13.3%	cbioportal
6	TP53	Ssm	2	15	13.3%	cbioportal
13	MUTYH	Ssm	1	15	6.7%	cbioportal
7	BRCA2	Ssm	1	15	6.7%	cbioportal
8	FLT4	Ssm	1	15	6.7%	cbioportal
9	HGF	Ssm	1	15	6.7%	cbioportal
10	IKBKE	Ssm	1	15	6.7%	cbioportal
11	IKZF1	Ssm	1	15	6.7%	cbioportal
12	MTOR	Ssm	1	15	6.7%	cbioportal
14	NCOR1	Ssm	1	15	6.7%	cbioportal
15	PIK3C2G	Ssm	1	15	6.7%	cbioportal
16	PIK3CA	Ssm	1	15	6.7%	cbioportal
17	PTCH1	Ssm	1	15	6.7%	cbioportal
18	RB1	Ssm	1	15	6.7%	cbioportal
19	SUFU	Ssm	1	15	6.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Medulloblastoma (Broad, Nature 2012) mbl_broad_2012Broad

92 cases with simple somatic mutation data · 92 cases total · 2026-01-07 · mapped to Medulloblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	KMT2D	Ssm	8	92	8.7%	cbioportal
2	DDX3X	Ssm	7	92	7.6%	cbioportal
4	PTCH1	Ssm	6	92	6.5%	cbioportal
3	CTNNB1	Ssm	6	92	6.5%	cbioportal
5	ABCA13	Ssm	4	92	4.3%	cbioportal
6	KMT2C	Ssm	4	92	4.3%	cbioportal
7	SMARCA4	Ssm	4	92	4.3%	cbioportal
9	EPPK1	Ssm	3	92	3.3%	cbioportal
10	GPS2	Ssm	3	92	3.3%	cbioportal
11	KDM6A	Ssm	3	92	3.3%	cbioportal
12	LAMA5	Ssm	3	92	3.3%	cbioportal
13	MAN2C1	Ssm	3	92	3.3%	cbioportal
14	PLXNA2	Ssm	3	92	3.3%	cbioportal
17	TTN	Ssm	3	92	3.3%	cbioportal
15	SPTB	Ssm	3	92	3.3%	cbioportal
8	BCOR	Ssm	3	92	3.3%	cbioportal
16	TP53	Ssm	3	92	3.3%	cbioportal
44	GIMAP8	Ssm	2	92	2.2%	cbioportal
52	MED12L	Ssm	2	92	2.2%	cbioportal
51	MDN1	Ssm	2	92	2.2%	cbioportal
50	LRP1B	Ssm	2	92	2.2%	cbioportal
49	LDB1	Ssm	2	92	2.2%	cbioportal
48	KRT16	Ssm	2	92	2.2%	cbioportal
47	KBTBD4	Ssm	2	92	2.2%	cbioportal
46	GTF3C1	Ssm	2	92	2.2%	cbioportal
45	GNAS	Ssm	2	92	2.2%	cbioportal
53	MYLIP	Ssm	2	92	2.2%	cbioportal
43	GALNT5	Ssm	2	92	2.2%	cbioportal
42	GABRG1	Ssm	2	92	2.2%	cbioportal
41	FRYL	Ssm	2	92	2.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Medulloblastoma (DKFZ, Nature 2017) mbl_dkfz_2017DKFZ

491 cases with simple somatic mutation data · 491 cases total · 2026-01-16 · mapped to Medulloblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PTCH1	Ssm	51	491	10.4%	cbioportal
2	TERT	Ssm	50	491	10.2%	cbioportal
3	DDX3X	Ssm	43	491	8.8%	cbioportal
4	KMT2D	Ssm	34	491	6.9%	cbioportal
5	CTNNB1	Ssm	32	491	6.5%	cbioportal
6	KMT2C	Ssm	29	491	5.9%	cbioportal
7	SMARCA4	Ssm	25	491	5.1%	cbioportal
8	TTN	Ssm	23	491	4.7%	cbioportal
9	KBTBD4	Ssm	19	491	3.9%	cbioportal
12	TP53	Ssm	17	491	3.5%	cbioportal
10	KDM6A	Ssm	17	491	3.5%	cbioportal
11	MUC16	Ssm	17	491	3.5%	cbioportal
13	CREBBP	Ssm	15	491	3.1%	cbioportal
14	ZMYM3	Ssm	14	491	2.9%	cbioportal
15	SMO	Ssm	13	491	2.6%	cbioportal
17	ZIC1	Ssm	12	491	2.4%	cbioportal
16	TCF4	Ssm	12	491	2.4%	cbioportal
19	NIN	Ssm	11	491	2.2%	cbioportal
18	CDK1	Ssm	11	491	2.2%	cbioportal
20	NME5	Ssm	11	491	2.2%	cbioportal
23	LAMA2	Ssm	10	491	2%	cbioportal
22	GSE1	Ssm	10	491	2%	cbioportal
24	RSBN1L	Ssm	10	491	2%	cbioportal
21	FBXW7	Ssm	10	491	2%	cbioportal
26	PIK3CA	Ssm	9	491	1.8%	cbioportal
25	CTDNEP1	Ssm	9	491	1.8%	cbioportal
29	RYR3	Ssm	8	491	1.6%	cbioportal
27	BCOR	Ssm	8	491	1.6%	cbioportal
28	MUC17	Ssm	8	491	1.6%	cbioportal
30	ARID1A	Ssm	7	491	1.4%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Medulloblastoma (ICGC, Nature 2012) mbl_icgcICGC

125 cases with simple somatic mutation data · 125 cases total · 2026-01-07 · mapped to Medulloblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	CTNNB1	Ssm	15	125	12%	cbioportal
2	DDX3X	Ssm	10	125	8%	cbioportal
3	PTCH1	Ssm	8	125	6.4%	cbioportal
4	KMT2D	Ssm	6	125	4.8%	cbioportal
5	SMARCA4	Ssm	6	125	4.8%	cbioportal
6	KDM6A	Ssm	5	125	4%	cbioportal
7	TP53	Ssm	5	125	4%	cbioportal
8	CTDNEP1	Ssm	4	125	3.2%	cbioportal
10	CUBN	Ssm	3	125	2.4%	cbioportal
15	TRPC3	Ssm	3	125	2.4%	cbioportal
14	TLN2	Ssm	3	125	2.4%	cbioportal
13	NF1	Ssm	3	125	2.4%	cbioportal
12	KMT2C	Ssm	3	125	2.4%	cbioportal
11	FRAS1	Ssm	3	125	2.4%	cbioportal
9	CEP83	Ssm	3	125	2.4%	cbioportal
16	ABCA4	Ssm	2	125	1.6%	cbioportal
17	AKAP11	Ssm	2	125	1.6%	cbioportal
18	ALPK2	Ssm	2	125	1.6%	cbioportal
19	ANGEL2	Ssm	2	125	1.6%	cbioportal
20	AOC3	Ssm	2	125	1.6%	cbioportal
21	ARID1B	Ssm	2	125	1.6%	cbioportal
22	BCLAF1	Ssm	2	125	1.6%	cbioportal
23	BCOR	Ssm	2	125	1.6%	cbioportal
24	CBFA2T2	Ssm	2	125	1.6%	cbioportal
25	CCAR1	Ssm	2	125	1.6%	cbioportal
26	CDH10	Ssm	2	125	1.6%	cbioportal
27	CLCN2	Ssm	2	125	1.6%	cbioportal
28	CLDN24	Ssm	2	125	1.6%	cbioportal
29	CPAMD8	Ssm	2	125	1.6%	cbioportal
30	DLG5	Ssm	2	125	1.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Medulloblastoma (PCGP, Nature 2012) mbl_pcgpPCGP

37 cases with simple somatic mutation data · 37 cases total · 2026-01-07 · mapped to Medulloblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	CTNNB1	Ssm	4	37	10.8%	cbioportal
2	DDX3X	Ssm	4	37	10.8%	cbioportal
3	CHD7	Ssm	3	37	8.1%	cbioportal
4	KDM6A	Ssm	3	37	8.1%	cbioportal
5	TTN	Ssm	3	37	8.1%	cbioportal
18	ZMYM3	Ssm	2	37	5.4%	cbioportal
6	CACNA1D	Ssm	2	37	5.4%	cbioportal
7	DEPDC5	Ssm	2	37	5.4%	cbioportal
8	DNAH14	Ssm	2	37	5.4%	cbioportal
9	DYNC1H1	Ssm	2	37	5.4%	cbioportal
10	FAP	Ssm	2	37	5.4%	cbioportal
11	FCRL2	Ssm	2	37	5.4%	cbioportal
12	GPAM	Ssm	2	37	5.4%	cbioportal
13	IFIT3	Ssm	2	37	5.4%	cbioportal
14	PFKP	Ssm	2	37	5.4%	cbioportal
15	SF3B1	Ssm	2	37	5.4%	cbioportal
16	WDFY3	Ssm	2	37	5.4%	cbioportal
17	WDFY4	Ssm	2	37	5.4%	cbioportal
24	ADAMTS20	Ssm	1	37	2.7%	cbioportal
25	ADGRB3	Ssm	1	37	2.7%	cbioportal
26	AGGF1	Ssm	1	37	2.7%	cbioportal
27	AKAP9	Ssm	1	37	2.7%	cbioportal
28	AKR1B10	Ssm	1	37	2.7%	cbioportal
29	ALDH1L1	Ssm	1	37	2.7%	cbioportal
30	ANKRD11	Ssm	1	37	2.7%	cbioportal
19	ABCA4	Ssm	1	37	2.7%	cbioportal
20	ABCB9	Ssm	1	37	2.7%	cbioportal
21	ABCG2	Ssm	1	37	2.7%	cbioportal
22	ABI3BP	Ssm	1	37	2.7%	cbioportal
23	ACAN	Ssm	1	37	2.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Medulloblastoma (Sickkids, Nature 2016) mbl_sickkids_2016Sickkids

46 cases with simple somatic mutation data · 46 cases total · 2026-01-07 · mapped to Medulloblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	9	46	19.6%	cbioportal
2	MUC4	Ssm	7	46	15.2%	cbioportal
3	TP53	Ssm	6	46	13%	cbioportal
6	MUC6	Ssm	5	46	10.9%	cbioportal
7	TG	Ssm	5	46	10.9%	cbioportal
5	MUC16	Ssm	5	46	10.9%	cbioportal
8	VWA5B2	Ssm	5	46	10.9%	cbioportal
4	CREBBP	Ssm	5	46	10.9%	cbioportal
11	FBXW7	Ssm	4	46	8.7%	cbioportal
9	ABCA13	Ssm	4	46	8.7%	cbioportal
10	ALAS1	Ssm	4	46	8.7%	cbioportal
18	VEPH1	Ssm	4	46	8.7%	cbioportal
17	USH2A	Ssm	4	46	8.7%	cbioportal
16	RYR3	Ssm	4	46	8.7%	cbioportal
15	PTCH1	Ssm	4	46	8.7%	cbioportal
14	MUC2	Ssm	4	46	8.7%	cbioportal
13	KMT2D	Ssm	4	46	8.7%	cbioportal
12	FRAS1	Ssm	4	46	8.7%	cbioportal
21	ATR	Ssm	3	46	6.5%	cbioportal
30	DMBT1	Ssm	3	46	6.5%	cbioportal
29	DDX3X	Ssm	3	46	6.5%	cbioportal
28	DCHS2	Ssm	3	46	6.5%	cbioportal
27	CR2	Ssm	3	46	6.5%	cbioportal
26	COL12A1	Ssm	3	46	6.5%	cbioportal
25	CEMIP2	Ssm	3	46	6.5%	cbioportal
24	CAPN9	Ssm	3	46	6.5%	cbioportal
23	BMPR2	Ssm	3	46	6.5%	cbioportal
22	BDP1	Ssm	3	46	6.5%	cbioportal
20	ARID2	Ssm	3	46	6.5%	cbioportal
19	ABCA1	Ssm	3	46	6.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Meningioma (University of Toronto, Nature 2021) mng_utoronto_2021University of Toronto

115 cases with simple somatic mutation data · 121 cases total · 2026-01-08 · mapped to Meningioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	NF2	Ssm	64	115	55.7%	cbioportal
2	TTN	Ssm	23	115	20%	cbioportal
3	OBSCN	Ssm	12	115	10.4%	cbioportal
4	FLG	Ssm	10	115	8.7%	cbioportal
5	TRAF7	Ssm	8	115	7%	cbioportal
6	PLEC	Ssm	7	115	6.1%	cbioportal
11	NOTCH1	Ssm	6	115	5.2%	cbioportal
12	RYR2	Ssm	6	115	5.2%	cbioportal
14	SMARCB1	Ssm	6	115	5.2%	cbioportal
13	SALL3	Ssm	6	115	5.2%	cbioportal
7	CMYA5	Ssm	6	115	5.2%	cbioportal
8	CREBBP	Ssm	6	115	5.2%	cbioportal
9	DNAH3	Ssm	6	115	5.2%	cbioportal
10	DNMT3A	Ssm	6	115	5.2%	cbioportal
16	ARHGAP33	Ssm	5	115	4.3%	cbioportal
23	ESPNL	Ssm	5	115	4.3%	cbioportal
24	GON4L	Ssm	5	115	4.3%	cbioportal
25	KDM6A	Ssm	5	115	4.3%	cbioportal
26	KLF4	Ssm	5	115	4.3%	cbioportal
27	KMT2A	Ssm	5	115	4.3%	cbioportal
28	MAP1B	Ssm	5	115	4.3%	cbioportal
17	ARMC5	Ssm	5	115	4.3%	cbioportal
29	PDPR	Ssm	5	115	4.3%	cbioportal
30	PTEN	Ssm	5	115	4.3%	cbioportal
31	RANBP2	Ssm	5	115	4.3%	cbioportal
15	AMBRA1	Ssm	5	115	4.3%	cbioportal
32	SMO	Ssm	5	115	4.3%	cbioportal
33	ST18	Ssm	5	115	4.3%	cbioportal
34	SYNE2	Ssm	5	115	4.3%	cbioportal
35	VPS13B	Ssm	5	115	4.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Merged Cohort of LGG and GBM (TCGA, Cell 2016) lgggbm_tcga_pubTCGA

812 cases with simple somatic mutation data · 1,122 cases total · 2026-01-07 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	IDH1	Ssm	411	812	50.6%	cbioportal
2	TP53	Ssm	322	812	39.7%	cbioportal
3	ATRX	Ssm	208	812	25.6%	cbioportal
4	TTN	Ssm	109	812	13.4%	cbioportal
5	PTEN	Ssm	108	812	13.3%	cbioportal
6	EGFR	Ssm	87	812	10.7%	cbioportal
7	CIC	Ssm	79	812	9.7%	cbioportal
8	MUC16	Ssm	69	812	8.5%	cbioportal
9	PIK3CA	Ssm	63	812	7.8%	cbioportal
10	NF1	Ssm	53	812	6.5%	cbioportal
11	RYR2	Ssm	46	812	5.7%	cbioportal
12	PIK3R1	Ssm	45	812	5.5%	cbioportal
13	FUBP1	Ssm	44	812	5.4%	cbioportal
14	FLG	Ssm	38	812	4.7%	cbioportal
15	PCLO	Ssm	33	812	4.1%	cbioportal
16	HMCN1	Ssm	31	812	3.8%	cbioportal
17	NOTCH1	Ssm	28	812	3.4%	cbioportal
18	PKHD1	Ssm	28	812	3.4%	cbioportal
19	SPTA1	Ssm	27	812	3.3%	cbioportal
21	RB1	Ssm	26	812	3.2%	cbioportal
20	LRP2	Ssm	26	812	3.2%	cbioportal
24	OBSCN	Ssm	22	812	2.7%	cbioportal
25	SMARCA4	Ssm	22	812	2.7%	cbioportal
26	SYNE1	Ssm	22	812	2.7%	cbioportal
22	AHNAK2	Ssm	22	812	2.7%	cbioportal
23	KEL	Ssm	22	812	2.7%	cbioportal
29	MUC17	Ssm	21	812	2.6%	cbioportal
27	DNAH5	Ssm	21	812	2.6%	cbioportal
28	FRAS1	Ssm	21	812	2.6%	cbioportal
30	ADGRV1	Ssm	20	812	2.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Nerve Sheath Tumors (Johns Hopkins, 2024) nst_nfosi_ntapJohns Hopkins

80 cases with simple somatic mutation data · 134 cases total · 2026-01-12 · mapped to Nerve Sheath Neoplasm EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	NF1	Ssm	29	80	36.3%	cbioportal
2	ADPRHL1	Ssm	24	80	30%	cbioportal
3	MUC16	Ssm	18	80	22.5%	cbioportal
4	TTN	Ssm	18	80	22.5%	cbioportal
5	LRTM3	Ssm	12	80	15%	cbioportal
7	LRP1	Ssm	11	80	13.8%	cbioportal
8	LRP2	Ssm	11	80	13.8%	cbioportal
6	ADGRV1	Ssm	11	80	13.8%	cbioportal
9	OBSCN	Ssm	11	80	13.8%	cbioportal
10	PKHD1	Ssm	11	80	13.8%	cbioportal
14	SYNE1	Ssm	9	80	11.3%	cbioportal
15	SYNE2	Ssm	9	80	11.3%	cbioportal
11	LRP1B	Ssm	9	80	11.3%	cbioportal
12	MACF1	Ssm	9	80	11.3%	cbioportal
13	PRKDC	Ssm	9	80	11.3%	cbioportal
24	USP34	Ssm	8	80	10%	cbioportal
16	AKAP6	Ssm	8	80	10%	cbioportal
17	ATG2B	Ssm	8	80	10%	cbioportal
18	COL6A5	Ssm	8	80	10%	cbioportal
19	CUBN	Ssm	8	80	10%	cbioportal
20	DST	Ssm	8	80	10%	cbioportal
21	LAMA3	Ssm	8	80	10%	cbioportal
22	LAMA5	Ssm	8	80	10%	cbioportal
23	LRRCC1	Ssm	8	80	10%	cbioportal
29	FBN3	Ssm	7	80	8.8%	cbioportal
34	MEGF6	Ssm	7	80	8.8%	cbioportal
25	ANKRD36C	Ssm	7	80	8.8%	cbioportal
26	BLTP3A	Ssm	7	80	8.8%	cbioportal
27	CD109	Ssm	7	80	8.8%	cbioportal
28	DNAH17	Ssm	7	80	8.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-12

Neuroblastoma TARGET-NBLTARGET

696 cases with simple somatic mutation data · 1,132 cases total · Data Release 46.0 · mapped to Neuroblastoma ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	MUC16	Ssm	20	696	2.9%	gdc
2	ALK	Ssm	19	696	2.7%	gdc
3	TTN	Ssm	15	696	2.2%	gdc
4	FLG	Ssm	10	696	1.4%	gdc
5	ABCA13	Ssm	9	696	1.3%	gdc
6	FAT2	Ssm	8	696	1.1%	gdc
9	MUC17	Ssm	8	696	1.1%	gdc
8	AHNAK2	Ssm	8	696	1.1%	gdc
7	FBN2	Ssm	8	696	1.1%	gdc
10	DNAH17	Ssm	7	696	1%	gdc
12	KIAA1109	Ssm	7	696	1%	gdc
13	PTPN11	Ssm	7	696	1%	gdc
11	HMCN1	Ssm	7	696	1%	gdc
18	AHNAK	Ssm	6	696	0.9%	gdc
15	SPTA1	Ssm	6	696	0.9%	gdc
14	TNC	Ssm	6	696	0.9%	gdc
20	COL4A1	Ssm	6	696	0.9%	gdc
19	RYR1	Ssm	6	696	0.9%	gdc
16	SYNE2	Ssm	6	696	0.9%	gdc
17	LRP1B	Ssm	6	696	0.9%	gdc
28	RP1	Ssm	5	696	0.7%	gdc
27	TCHH	Ssm	5	696	0.7%	gdc
26	USH2A	Ssm	5	696	0.7%	gdc
25	DNAH3	Ssm	5	696	0.7%	gdc
24	DOCK8	Ssm	5	696	0.7%	gdc
23	FRAS1	Ssm	5	696	0.7%	gdc
30	RELN	Ssm	5	696	0.7%	gdc
33	FLG2	Ssm	5	696	0.7%	gdc
29	DCHS2	Ssm	5	696	0.7%	gdc
31	ATRX	Ssm	5	696	0.7%	gdc

Data updated 22 days agoSource updated Data Release 46.0

Neuroblastoma (AMC Amsterdam, Nature 2012) nbl_amc_2012AMC Amsterdam

87 cases with simple somatic mutation data · 87 cases total · 2026-01-08 · mapped to Neuroblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	ZNF717	Ssm	6	87	6.9%	cbioportal
2	ALK	Ssm	5	87	5.7%	cbioportal
3	TIAM1	Ssm	3	87	3.4%	cbioportal
16	RFESD	Ssm	2	87	2.3%	cbioportal
4	AKAP9	Ssm	2	87	2.3%	cbioportal
5	ANO8	Ssm	2	87	2.3%	cbioportal
6	ARHGAP10	Ssm	2	87	2.3%	cbioportal
7	ATP13A5	Ssm	2	87	2.3%	cbioportal
8	DAG1	Ssm	2	87	2.3%	cbioportal
9	DYSF	Ssm	2	87	2.3%	cbioportal
10	FAN1	Ssm	2	87	2.3%	cbioportal
11	FRMPD2	Ssm	2	87	2.3%	cbioportal
12	MYOM2	Ssm	2	87	2.3%	cbioportal
13	NALCN	Ssm	2	87	2.3%	cbioportal
14	NEB	Ssm	2	87	2.3%	cbioportal
15	PDE8B	Ssm	2	87	2.3%	cbioportal
17	RYR1	Ssm	2	87	2.3%	cbioportal
18	TMC3	Ssm	2	87	2.3%	cbioportal
19	WDR87	Ssm	2	87	2.3%	cbioportal
20	ZNF462	Ssm	2	87	2.3%	cbioportal
21	AASS	Ssm	1	87	1.1%	cbioportal
23	ACE	Ssm	1	87	1.1%	cbioportal
24	ACTR3	Ssm	1	87	1.1%	cbioportal
25	ACTR6	Ssm	1	87	1.1%	cbioportal
26	ACTR8	Ssm	1	87	1.1%	cbioportal
27	ADAM20	Ssm	1	87	1.1%	cbioportal
28	ADAM30	Ssm	1	87	1.1%	cbioportal
29	ADAMTS10	Ssm	1	87	1.1%	cbioportal
139	EIF2D	Ssm	1	87	1.1%	cbioportal
22	ABCA1	Ssm	1	87	1.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Neuroblastoma (Broad, Nat Genet 2013) nbl_broad_2013Broad

240 cases with simple somatic mutation data · 240 cases total · 2026-01-08 · mapped to Neuroblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	ALK	Ssm	22	240	9.2%	cbioportal
2	MUC16	Ssm	15	240	6.3%	cbioportal
3	TTN	Ssm	12	240	5%	cbioportal
4	AHNAK2	Ssm	8	240	3.3%	cbioportal
7	PTPN11	Ssm	7	240	2.9%	cbioportal
5	FAT2	Ssm	7	240	2.9%	cbioportal
6	FLG	Ssm	7	240	2.9%	cbioportal
9	ATRX	Ssm	6	240	2.5%	cbioportal
15	TNXB	Ssm	6	240	2.5%	cbioportal
14	SPTA1	Ssm	6	240	2.5%	cbioportal
13	RYR1	Ssm	6	240	2.5%	cbioportal
12	LRP1B	Ssm	6	240	2.5%	cbioportal
11	HMCN1	Ssm	6	240	2.5%	cbioportal
10	BLTP1	Ssm	6	240	2.5%	cbioportal
8	ABCA13	Ssm	6	240	2.5%	cbioportal
19	FBN2	Ssm	5	240	2.1%	cbioportal
25	TNC	Ssm	5	240	2.1%	cbioportal
24	TCHH	Ssm	5	240	2.1%	cbioportal
23	SYNE2	Ssm	5	240	2.1%	cbioportal
22	NBPF10	Ssm	5	240	2.1%	cbioportal
20	FREM2	Ssm	5	240	2.1%	cbioportal
16	AHNAK	Ssm	5	240	2.1%	cbioportal
17	DNAH5	Ssm	5	240	2.1%	cbioportal
21	MUC17	Ssm	5	240	2.1%	cbioportal
18	DOCK8	Ssm	5	240	2.1%	cbioportal
28	ATP10B	Ssm	4	240	1.7%	cbioportal
30	DNAH3	Ssm	4	240	1.7%	cbioportal
29	DNAH1	Ssm	4	240	1.7%	cbioportal
27	APOB	Ssm	4	240	1.7%	cbioportal
26	ADAMTS7	Ssm	4	240	1.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Neuroblastoma (Broad, Nature 2015) nbl_ucologne_2015Broad

56 cases with simple somatic mutation data · 56 cases total · 2026-01-08 · mapped to Neuroblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	ALK	Ssm	5	56	8.9%	cbioportal
2	MUC16	Ssm	3	56	5.4%	cbioportal
23	TNXB	Ssm	2	56	3.6%	cbioportal
9	GJA3	Ssm	2	56	3.6%	cbioportal
8	GIGYF2	Ssm	2	56	3.6%	cbioportal
7	DSC2	Ssm	2	56	3.6%	cbioportal
6	COL5A3	Ssm	2	56	3.6%	cbioportal
5	CASR	Ssm	2	56	3.6%	cbioportal
4	BAIAP2L2	Ssm	2	56	3.6%	cbioportal
3	AHNAK2	Ssm	2	56	3.6%	cbioportal
26	XIRP2	Ssm	2	56	3.6%	cbioportal
25	WWP1	Ssm	2	56	3.6%	cbioportal
24	TTN	Ssm	2	56	3.6%	cbioportal
22	TBP	Ssm	2	56	3.6%	cbioportal
21	SNX21	Ssm	2	56	3.6%	cbioportal
20	PDE6A	Ssm	2	56	3.6%	cbioportal
19	PCDHB12	Ssm	2	56	3.6%	cbioportal
18	NEB	Ssm	2	56	3.6%	cbioportal
17	MYH1	Ssm	2	56	3.6%	cbioportal
16	MUC17	Ssm	2	56	3.6%	cbioportal
15	LHCGR	Ssm	2	56	3.6%	cbioportal
14	LATS2	Ssm	2	56	3.6%	cbioportal
13	KRT10	Ssm	2	56	3.6%	cbioportal
12	ITGAE	Ssm	2	56	3.6%	cbioportal
11	IGFN1	Ssm	2	56	3.6%	cbioportal
10	HGSNAT	Ssm	2	56	3.6%	cbioportal
91	C11ORF91	Ssm	1	56	1.8%	cbioportal
90	C11ORF68	Ssm	1	56	1.8%	cbioportal
92	C17ORF99	Ssm	1	56	1.8%	cbioportal
93	CACNA1A	Ssm	1	56	1.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Neuroblastoma (TARGET GDC, 2025) nbl_target_gdcTARGET GDC

471 cases with simple somatic mutation data · 533 cases total · 2026-01-14 · mapped to Neuroblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	ALK	Ssm	64	471	13.6%	cbioportal
2	MUC16	Ssm	16	471	3.4%	cbioportal
3	ATRX	Ssm	13	471	2.8%	cbioportal
4	PTPN11	Ssm	12	471	2.5%	cbioportal
5	DNAH2	Ssm	10	471	2.1%	cbioportal
6	FLG	Ssm	9	471	1.9%	cbioportal
15	TNC	Ssm	8	471	1.7%	cbioportal
13	MYH2	Ssm	8	471	1.7%	cbioportal
14	RYR1	Ssm	8	471	1.7%	cbioportal
16	TTN	Ssm	8	471	1.7%	cbioportal
7	ABCA13	Ssm	8	471	1.7%	cbioportal
8	AHNAK	Ssm	8	471	1.7%	cbioportal
9	AHNAK2	Ssm	8	471	1.7%	cbioportal
10	COL5A3	Ssm	8	471	1.7%	cbioportal
11	DOCK8	Ssm	8	471	1.7%	cbioportal
12	FAT2	Ssm	8	471	1.7%	cbioportal
17	FBN2	Ssm	7	471	1.5%	cbioportal
18	RELN	Ssm	7	471	1.5%	cbioportal
25	MET	Ssm	6	471	1.3%	cbioportal
19	COL12A1	Ssm	6	471	1.3%	cbioportal
20	COL4A1	Ssm	6	471	1.3%	cbioportal
21	DNAH17	Ssm	6	471	1.3%	cbioportal
22	HMCN1	Ssm	6	471	1.3%	cbioportal
23	LRIF1	Ssm	6	471	1.3%	cbioportal
24	LRP1B	Ssm	6	471	1.3%	cbioportal
26	MYCN	Ssm	6	471	1.3%	cbioportal
27	NF1	Ssm	6	471	1.3%	cbioportal
28	SPTA1	Ssm	6	471	1.3%	cbioportal
30	BLTP1	Ssm	5	471	1.1%	cbioportal
29	ATP10B	Ssm	5	471	1.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-14

Pediatric Low-Grade Glioma (CTF, Acta Neuropathol 2021) lgg_ctf_synodos_2025CTF

31 cases with simple somatic mutation data · 31 cases total · 2026-03-09 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	NF1	Ssm	5	31	16.1%	cbioportal
3	ARSF	Ssm	3	31	9.7%	cbioportal
2	ADPRHL1	Ssm	3	31	9.7%	cbioportal
4	PABPC3	Ssm	3	31	9.7%	cbioportal
15	UNC80	Ssm	2	31	6.5%	cbioportal
16	ZDHHC11	Ssm	2	31	6.5%	cbioportal
17	ZNF827	Ssm	2	31	6.5%	cbioportal
5	AK9	Ssm	2	31	6.5%	cbioportal
14	TRAV3	Ssm	2	31	6.5%	cbioportal
13	MUC16	Ssm	2	31	6.5%	cbioportal
11	KRT84	Ssm	2	31	6.5%	cbioportal
12	KRTAP1-3	Ssm	2	31	6.5%	cbioportal
8	COL6A3	Ssm	2	31	6.5%	cbioportal
9	IBTK	Ssm	2	31	6.5%	cbioportal
10	KIF20B	Ssm	2	31	6.5%	cbioportal
6	BLTP1	Ssm	2	31	6.5%	cbioportal
7	C7	Ssm	2	31	6.5%	cbioportal
178	DYNC2I2	Ssm	1	31	3.2%	cbioportal
179	DZIP1L	Ssm	1	31	3.2%	cbioportal
180	EAF1	Ssm	1	31	3.2%	cbioportal
181	ECHDC2	Ssm	1	31	3.2%	cbioportal
171	DOK2	Ssm	1	31	3.2%	cbioportal
170	DOCK4	Ssm	1	31	3.2%	cbioportal
169	DOCK2	Ssm	1	31	3.2%	cbioportal
172	DOP1B	Ssm	1	31	3.2%	cbioportal
173	DPRX	Ssm	1	31	3.2%	cbioportal
174	DST	Ssm	1	31	3.2%	cbioportal
175	DTX3	Ssm	1	31	3.2%	cbioportal
176	DVL2	Ssm	1	31	3.2%	cbioportal
177	DYNC2I1	Ssm	1	31	3.2%	cbioportal

Data updated 22 days agoSource updated 2026-03-09

Pediatric Neuroblastoma (MSK, Nat Genet 2023) nbl_msk_2023MSK

223 cases with simple somatic mutation data · 223 cases total · 2026-02-10 · mapped to Neuroblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	ALK	Ssm	33	223	14.8%	cbioportal
2	ATRX	Ssm	24	223	10.8%	cbioportal
3	SMARCA4	Ssm	9	223	4%	cbioportal
5	BRCA2	Ssm	8	223	3.6%	cbioportal
4	BRAF	Ssm	8	223	3.6%	cbioportal
6	TERT	Ssm	7	223	3.1%	cbioportal
15	KMT2B	Ssm	5	168	3%	cbioportal
10	KRAS	Ssm	6	223	2.7%	cbioportal
9	KMT2D	Ssm	6	223	2.7%	cbioportal
12	ROS1	Ssm	6	223	2.7%	cbioportal
7	CREBBP	Ssm	6	223	2.7%	cbioportal
11	PTPN11	Ssm	6	223	2.7%	cbioportal
8	FAT1	Ssm	6	223	2.7%	cbioportal
17	NF1	Ssm	5	223	2.2%	cbioportal
14	IRS2	Ssm	5	223	2.2%	cbioportal
13	CD79B	Ssm	5	223	2.2%	cbioportal
18	PDGFRA	Ssm	5	223	2.2%	cbioportal
16	NCOR1	Ssm	5	223	2.2%	cbioportal
29	CSDE1	Ssm	3	167	1.8%	cbioportal
46	TAP2	Ssm	3	167	1.8%	cbioportal
23	MYCN	Ssm	4	223	1.8%	cbioportal
25	PIK3R1	Ssm	4	223	1.8%	cbioportal
24	NRAS	Ssm	4	223	1.8%	cbioportal
22	ERBB3	Ssm	4	223	1.8%	cbioportal
21	CDK12	Ssm	4	223	1.8%	cbioportal
20	AXL	Ssm	4	223	1.8%	cbioportal
19	ARID1A	Ssm	4	223	1.8%	cbioportal
51	ZFHX3	Ssm	3	219	1.4%	cbioportal
48	TMPRSS2	Ssm	3	222	1.4%	cbioportal
38	LATS1	Ssm	3	222	1.4%	cbioportal

Data updated 22 days agoSource updated 2026-02-10

Pediatric Neuroblastoma (TARGET, 2018) nbl_target_2018_pubTARGET

1,089 cases with simple somatic mutation data · 1,089 cases total · 2026-01-08 · mapped to Neuroblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	NBPF10	Ssm	7	1,089	0.6%	cbioportal
3	PTPN11	Ssm	5	1,089	0.5%	cbioportal
2	DNAH2	Ssm	5	1,089	0.5%	cbioportal
5	NBPF1	Ssm	4	1,089	0.4%	cbioportal
7	TET2	Ssm	4	1,089	0.4%	cbioportal
6	NF1	Ssm	4	1,089	0.4%	cbioportal
4	COL6A3	Ssm	4	1,089	0.4%	cbioportal
9	COL5A3	Ssm	3	1,089	0.3%	cbioportal
10	MYCN	Ssm	3	1,089	0.3%	cbioportal
8	AXL	Ssm	3	1,089	0.3%	cbioportal
13	ARID1B	Ssm	2	1,089	0.2%	cbioportal
30	LRIF1	Ssm	2	1,089	0.2%	cbioportal
29	KRTAP4-9	Ssm	2	1,089	0.2%	cbioportal
28	KCNH4	Ssm	2	1,089	0.2%	cbioportal
27	IL31RA	Ssm	2	1,089	0.2%	cbioportal
26	HERC1	Ssm	2	1,089	0.2%	cbioportal
25	FAT1	Ssm	2	1,089	0.2%	cbioportal
24	EPHA6	Ssm	2	1,089	0.2%	cbioportal
23	EP400	Ssm	2	1,089	0.2%	cbioportal
22	DOCK8	Ssm	2	1,089	0.2%	cbioportal
21	CSPG4	Ssm	2	1,089	0.2%	cbioportal
20	COL12A1	Ssm	2	1,089	0.2%	cbioportal
19	CNTN5	Ssm	2	1,089	0.2%	cbioportal
18	CARD11	Ssm	2	1,089	0.2%	cbioportal
17	CACNA1B	Ssm	2	1,089	0.2%	cbioportal
16	CACNA1A	Ssm	2	1,089	0.2%	cbioportal
15	ATM	Ssm	2	1,089	0.2%	cbioportal
14	ASB5	Ssm	2	1,089	0.2%	cbioportal
12	AR	Ssm	2	1,089	0.2%	cbioportal
11	AFF3	Ssm	2	1,089	0.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Pheochromocytoma and Paraganglioma TCGA-PCPGTCGA

179 cases with simple somatic mutation data · 179 cases total · Data Release 46.0 · mapped to Paraganglioma CURATED_BROADER

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	AMY1B	Ssm	128	179	71.5%	gdc
2	AMY2A	Ssm	128	179	71.5%	gdc
3	AMY1A	Ssm	128	179	71.5%	gdc
12	GNAI3	Ssm	127	179	70.9%	gdc
4	LMO4	Ssm	127	179	70.9%	gdc
5	SLC6A17	Ssm	127	179	70.9%	gdc
6	CLCA2	Ssm	127	179	70.9%	gdc
7	AC093155.3	Ssm	127	179	70.9%	gdc
8	SH3GLB1	Ssm	127	179	70.9%	gdc
9	GSTM3	Ssm	127	179	70.9%	gdc
10	GSTM2	Ssm	127	179	70.9%	gdc
11	HS2ST1	Ssm	127	179	70.9%	gdc
13	RBM15	Ssm	127	179	70.9%	gdc
14	TGFBR3	Ssm	127	179	70.9%	gdc
15	ODF2L	Ssm	127	179	70.9%	gdc
16	COL24A1	Ssm	127	179	70.9%	gdc
17	GNAT2	Ssm	127	179	70.9%	gdc
18	UBL4B	Ssm	127	179	70.9%	gdc
19	AMPD2	Ssm	127	179	70.9%	gdc
20	AHCYL1	Ssm	127	179	70.9%	gdc
21	FNDC7	Ssm	127	179	70.9%	gdc
22	GPR61	Ssm	127	179	70.9%	gdc
23	STXBP3	Ssm	127	179	70.9%	gdc
24	EPS8L3	Ssm	127	179	70.9%	gdc
25	AMY2B	Ssm	127	179	70.9%	gdc
26	PLPPR4	Ssm	127	179	70.9%	gdc
27	CSF1	Ssm	127	179	70.9%	gdc
28	STRIP1	Ssm	127	179	70.9%	gdc
29	SELENOF	Ssm	127	179	70.9%	gdc
30	GSTM5	Ssm	127	179	70.9%	gdc

Data updated 22 days agoSource updated Data Release 46.0

Pilocytic Astrocytoma (ICGC, Nature Genetics 2013) past_dkfz_heidelberg_2013ICGC

96 cases with simple somatic mutation data · 96 cases total · 2026-01-12 · mapped to Pilocytic Astrocytoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	BRAF	Ssm	7	96	7.3%	cbioportal
2	FGFR1	Ssm	5	96	5.2%	cbioportal
3	NF1	Ssm	3	96	3.1%	cbioportal
4	ABCB7	Ssm	2	96	2.1%	cbioportal
5	IL4R	Ssm	2	96	2.1%	cbioportal
6	KIAA1549	Ssm	2	96	2.1%	cbioportal
7	KRAS	Ssm	2	96	2.1%	cbioportal
8	PTPN11	Ssm	2	96	2.1%	cbioportal
9	SETD2	Ssm	2	96	2.1%	cbioportal
10	ABCA6	Ssm	1	96	1%	cbioportal
11	ABCC1	Ssm	1	96	1%	cbioportal
12	ACD	Ssm	1	96	1%	cbioportal
13	ADAMTS5	Ssm	1	96	1%	cbioportal
14	ADGRB3	Ssm	1	96	1%	cbioportal
15	ADGRE2	Ssm	1	96	1%	cbioportal
16	ADGRG4	Ssm	1	96	1%	cbioportal
17	AHNAK2	Ssm	1	96	1%	cbioportal
18	AK7	Ssm	1	96	1%	cbioportal
19	AKAP7	Ssm	1	96	1%	cbioportal
20	AMBP	Ssm	1	96	1%	cbioportal
21	ANGPTL1	Ssm	1	96	1%	cbioportal
22	ANKRD36	Ssm	1	96	1%	cbioportal
23	APOB	Ssm	1	96	1%	cbioportal
24	ARAP1	Ssm	1	96	1%	cbioportal
25	ATP2B3	Ssm	1	96	1%	cbioportal
26	BBS2	Ssm	1	96	1%	cbioportal
27	BCOR	Ssm	1	96	1%	cbioportal
28	BRD10	Ssm	1	96	1%	cbioportal
29	C6	Ssm	1	96	1%	cbioportal
30	CBX4	Ssm	1	96	1%	cbioportal

Data updated 22 days agoSource updated 2026-01-12

Pituitary Adenoma (MSK, 2026) ptad_msk_2026MSK

62 cases with simple somatic mutation data · 62 cases total · 2026-08-24 · mapped to Pituitary Neuroendocrine Tumor EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
112	OR51I2	Ssm	2	2	100%	cbioportal
106	MYO10	Ssm	2	2	100%	cbioportal
73	COL16A1	Ssm	2	2	100%	cbioportal
144	TRMT6	Ssm	2	2	100%	cbioportal
146	UAP1	Ssm	2	2	100%	cbioportal
148	ZNF235	Ssm	2	2	100%	cbioportal
131	SH3TC1	Ssm	2	2	100%	cbioportal
134	SNUPN	Ssm	2	2	100%	cbioportal
118	PPP1R12B	Ssm	2	2	100%	cbioportal
125	RAX2	Ssm	2	2	100%	cbioportal
113	OR5A2	Ssm	2	2	100%	cbioportal
182	CTSC	Ssm	1	2	50%	cbioportal
149	ABI3BP	Ssm	1	2	50%	cbioportal
150	ADK	Ssm	1	2	50%	cbioportal
176	CLVS2	Ssm	1	2	50%	cbioportal
1	TP53	Ssm	22	62	35.5%	cbioportal
2	ATRX	Ssm	10	62	16.1%	cbioportal
8	USP8	Ssm	5	41	12.2%	cbioportal
3	KMT2C	Ssm	7	62	11.3%	cbioportal
4	DAXX	Ssm	6	62	9.7%	cbioportal
5	APC	Ssm	5	62	8.1%	cbioportal
6	MSH6	Ssm	5	62	8.1%	cbioportal
7	SPEN	Ssm	5	62	8.1%	cbioportal
14	LATS2	Ssm	4	62	6.5%	cbioportal
9	ANKRD11	Ssm	4	62	6.5%	cbioportal
10	ARID2	Ssm	4	62	6.5%	cbioportal
11	EPHB1	Ssm	4	62	6.5%	cbioportal
12	JAK1	Ssm	4	62	6.5%	cbioportal
13	KDM6A	Ssm	4	62	6.5%	cbioportal
15	MEN1	Ssm	4	62	6.5%	cbioportal

Data updated 22 days agoSource updated 2026-08-24

Pituitary Adenoma (MSK, Acta Neuropathologica 2024) ptad_msk_2024MSK

104 cases with simple somatic mutation data · 104 cases total · 2026-01-16 · mapped to Pituitary Neuroendocrine Tumor EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	15	104	14.4%	cbioportal
114	SMARCA2	Ssm	2	15	13.3%	cbioportal
125	USP8	Ssm	2	15	13.3%	cbioportal
128	ARHGAP35	Ssm	1	15	6.7%	cbioportal
197	KLF5	Ssm	1	15	6.7%	cbioportal
155	CTR9	Ssm	1	15	6.7%	cbioportal
2	KMT2C	Ssm	6	104	5.8%	cbioportal
8	SPEN	Ssm	5	104	4.8%	cbioportal
3	ANKRD11	Ssm	5	104	4.8%	cbioportal
6	GNAS	Ssm	5	104	4.8%	cbioportal
4	ATRX	Ssm	5	104	4.8%	cbioportal
5	DAXX	Ssm	5	104	4.8%	cbioportal
7	KMT2D	Ssm	5	104	4.8%	cbioportal
14	MEN1	Ssm	4	104	3.8%	cbioportal
15	MGA	Ssm	4	104	3.8%	cbioportal
16	MSH6	Ssm	4	104	3.8%	cbioportal
17	NSD1	Ssm	4	104	3.8%	cbioportal
18	PIK3CD	Ssm	4	104	3.8%	cbioportal
19	TBX3	Ssm	4	104	3.8%	cbioportal
13	KDM6A	Ssm	4	104	3.8%	cbioportal
9	APC	Ssm	4	104	3.8%	cbioportal
10	ASXL1	Ssm	4	104	3.8%	cbioportal
11	EPHB1	Ssm	4	104	3.8%	cbioportal
12	JAK1	Ssm	4	104	3.8%	cbioportal
20	TSC2	Ssm	4	104	3.8%	cbioportal
41	TP53BP1	Ssm	3	101	3%	cbioportal
28	CSDE1	Ssm	3	101	3%	cbioportal
39	PRKD1	Ssm	3	101	3%	cbioportal
42	WWTR1	Ssm	3	101	3%	cbioportal
30	INPPL1	Ssm	3	101	3%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Primary Central Nervous System Lymphoma (Mayo Clinic, Clin Cancer Res 2015) pcnsl_mayo_2015Mayo Clinic

10 cases with simple somatic mutation data · 19 cases total · 2026-01-12 · mapped to Primary Central Nervous System Lymphoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	MYD88	Ssm	7	10	70%	cbioportal
4	PIM1	Ssm	4	10	40%	cbioportal
3	DLGAP2	Ssm	4	10	40%	cbioportal
2	CD79B	Ssm	4	10	40%	cbioportal
5	SMG5	Ssm	4	10	40%	cbioportal
13	PRR12	Ssm	3	10	30%	cbioportal
11	KLHL14	Ssm	3	10	30%	cbioportal
10	FAT4	Ssm	3	10	30%	cbioportal
9	DST	Ssm	3	10	30%	cbioportal
8	DSG4	Ssm	3	10	30%	cbioportal
6	BTG2	Ssm	3	10	30%	cbioportal
15	TENM1	Ssm	3	10	30%	cbioportal
7	CARD11	Ssm	3	10	30%	cbioportal
14	TCL1A	Ssm	3	10	30%	cbioportal
12	LRP1B	Ssm	3	10	30%	cbioportal
22	BSN	Ssm	2	10	20%	cbioportal
20	ARAF	Ssm	2	10	20%	cbioportal
19	APBA1	Ssm	2	10	20%	cbioportal
18	ANGPTL6	Ssm	2	10	20%	cbioportal
17	AHNAK	Ssm	2	10	20%	cbioportal
16	A2ML1	Ssm	2	10	20%	cbioportal
77	ROBO1	Ssm	2	10	20%	cbioportal
26	CDKN1B	Ssm	2	10	20%	cbioportal
27	CEP295	Ssm	2	10	20%	cbioportal
28	CFAP47	Ssm	2	10	20%	cbioportal
29	CHPF2	Ssm	2	10	20%	cbioportal
23	BTG1	Ssm	2	10	20%	cbioportal
21	BCL2	Ssm	2	10	20%	cbioportal
25	CCDC7	Ssm	2	10	20%	cbioportal
24	C10ORF71	Ssm	2	10	20%	cbioportal

Data updated 22 days agoSource updated 2026-01-12

Primary CNS Lymphoma (MSK, Clin Cancer Res 2024) pcnsl_msk_2024MSK

86 cases with simple somatic mutation data · 86 cases total · 2026-01-12 · mapped to Primary Central Nervous System Lymphoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	MYD88	Ssm	37	86	43%	cbioportal
2	PIM1	Ssm	33	86	38.4%	cbioportal
3	CD79B	Ssm	20	86	23.3%	cbioportal
4	KMT2D	Ssm	20	86	23.3%	cbioportal
5	DTX1	Ssm	18	86	20.9%	cbioportal
6	H1-4	Ssm	16	86	18.6%	cbioportal
7	BTG2	Ssm	15	86	17.4%	cbioportal
10	TBL1XR1	Ssm	14	86	16.3%	cbioportal
9	ETV6	Ssm	14	86	16.3%	cbioportal
8	BTG1	Ssm	14	86	16.3%	cbioportal
11	HLA-A	Ssm	13	86	15.1%	cbioportal
12	SETD1B	Ssm	12	86	14%	cbioportal
13	GNA13	Ssm	11	86	12.8%	cbioportal
14	SOCS1	Ssm	10	86	11.6%	cbioportal
17	IRF4	Ssm	9	86	10.5%	cbioportal
18	MPEG1	Ssm	9	86	10.5%	cbioportal
16	CARD11	Ssm	9	86	10.5%	cbioportal
15	B2M	Ssm	9	86	10.5%	cbioportal
20	H1-2	Ssm	8	86	9.3%	cbioportal
19	CREBBP	Ssm	8	86	9.3%	cbioportal
22	CXCR4	Ssm	7	86	8.1%	cbioportal
29	TP53	Ssm	7	86	8.1%	cbioportal
28	PHOX2B	Ssm	7	86	8.1%	cbioportal
27	PCLO	Ssm	7	86	8.1%	cbioportal
26	PCBP1	Ssm	7	86	8.1%	cbioportal
25	LTB	Ssm	7	86	8.1%	cbioportal
24	KMT2C	Ssm	7	86	8.1%	cbioportal
23	FAT1	Ssm	7	86	8.1%	cbioportal
21	CCND3	Ssm	7	86	8.1%	cbioportal
30	CD70	Ssm	6	86	7%	cbioportal

Data updated 22 days agoSource updated 2026-01-12

Retinoblastoma cfDNA (MSK, Cancer Med 2020) rbl_cfdna_msk_2020MSK

14 cases with simple somatic mutation data · 14 cases total · 2026-01-16 · mapped to Retinoblastoma EXACT_IDENTIFIER

cbioportalObserved2 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	RB1	Ssm	14	14	100%	cbioportal
2	MYCN	Ssm	9	14	64.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Retinoblastoma (MSK, Cancers 2021) rbl_mskcc_2020MSK

83 cases with simple somatic mutation data · 83 cases total · 2026-01-16 · mapped to Retinoblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	RB1	Ssm	52	83	62.7%	cbioportal
2	BCOR	Ssm	14	83	16.9%	cbioportal
7	ZFHX3	Ssm	3	83	3.6%	cbioportal
5	FAT1	Ssm	3	83	3.6%	cbioportal
6	RPTOR	Ssm	3	83	3.6%	cbioportal
4	BRD4	Ssm	3	83	3.6%	cbioportal
3	ARID1A	Ssm	3	83	3.6%	cbioportal
13	MSH3	Ssm	2	78	2.6%	cbioportal
19	PREX2	Ssm	2	78	2.6%	cbioportal
16	PIK3CD	Ssm	2	83	2.4%	cbioportal
14	NCOA3	Ssm	2	83	2.4%	cbioportal
8	ARID1B	Ssm	2	83	2.4%	cbioportal
9	HLA-A	Ssm	2	83	2.4%	cbioportal
10	KMT2C	Ssm	2	83	2.4%	cbioportal
11	KMT2D	Ssm	2	83	2.4%	cbioportal
12	MAP3K1	Ssm	2	83	2.4%	cbioportal
15	NSD1	Ssm	2	83	2.4%	cbioportal
17	POLD1	Ssm	2	83	2.4%	cbioportal
18	POLE	Ssm	2	83	2.4%	cbioportal
20	TERT	Ssm	2	83	2.4%	cbioportal
78	WHR1	Ssm	1	78	1.3%	cbioportal
76	TP53BP1	Ssm	1	78	1.3%	cbioportal
74	TEK	Ssm	1	78	1.3%	cbioportal
25	BABAM1	Ssm	1	78	1.3%	cbioportal
30	CARM1	Ssm	1	78	1.3%	cbioportal
68	RTEL1	Ssm	1	78	1.3%	cbioportal
67	RRAGC	Ssm	1	78	1.3%	cbioportal
66	RAC2	Ssm	1	78	1.3%	cbioportal
63	PRKD1	Ssm	1	78	1.3%	cbioportal
39	DOT1L	Ssm	1	83	1.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Schwannoma (Children's Tumor Foundation, Acta Neuropathologica 2020) schw_ctf_synodos_2025Children's Tumor Foundation

40 cases with simple somatic mutation data · 52 cases total · 2026-01-13 · mapped to Schwannoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	NF2	Ssm	31	40	77.5%	cbioportal
2	OBSCN	Ssm	11	40	27.5%	cbioportal
3	TTN	Ssm	11	40	27.5%	cbioportal
4	CELSR1	Ssm	9	40	22.5%	cbioportal
5	PKHD1	Ssm	9	40	22.5%	cbioportal
6	PLEC	Ssm	9	40	22.5%	cbioportal
11	FLNA	Ssm	8	40	20%	cbioportal
7	ARID1A	Ssm	8	40	20%	cbioportal
8	BSN	Ssm	8	40	20%	cbioportal
9	DYNC1I1	Ssm	8	40	20%	cbioportal
10	FBN3	Ssm	8	40	20%	cbioportal
12	KMT2D	Ssm	8	40	20%	cbioportal
13	MUC16	Ssm	8	40	20%	cbioportal
14	MUC5B	Ssm	8	40	20%	cbioportal
15	MYH9	Ssm	8	40	20%	cbioportal
20	UNC80	Ssm	8	40	20%	cbioportal
19	SYNE1	Ssm	8	40	20%	cbioportal
18	SPEN	Ssm	8	40	20%	cbioportal
17	RYR1	Ssm	8	40	20%	cbioportal
16	MYO18B	Ssm	8	40	20%	cbioportal
21	ZNF469	Ssm	8	40	20%	cbioportal
26	CIT	Ssm	7	40	17.5%	cbioportal
22	ASH1L	Ssm	7	40	17.5%	cbioportal
23	ATAD2	Ssm	7	40	17.5%	cbioportal
30	DST	Ssm	7	40	17.5%	cbioportal
24	BLTP1	Ssm	7	40	17.5%	cbioportal
29	DOCK2	Ssm	7	40	17.5%	cbioportal
28	DNAH17	Ssm	7	40	17.5%	cbioportal
27	DCHS1	Ssm	7	40	17.5%	cbioportal
25	BMP6	Ssm	7	40	17.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-13