Malignant Nervous System Neoplasm — Genomics

Malignant Nervous System Neoplasm — Genomics · CancerIndex

Genomics

Gene alteration frequencies by cohort

18 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.

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

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.

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
6	TP53	Ssm	2	15	13.3%	cbioportal
5	HNF1A	Ssm	2	15	13.3%	cbioportal
4	DAXX	Ssm	2	15	13.3%	cbioportal
3	BCL2L1	Ssm	2	15	13.3%	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
7	BRCA2	Ssm	1	15	6.7%	cbioportal
19	SUFU	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
13	MUTYH	Ssm	1	15	6.7%	cbioportal
17	PTCH1	Ssm	1	15	6.7%	cbioportal
18	RB1	Ssm	1	15	6.7%	cbioportal
8	FLT4	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
3	CTNNB1	Ssm	6	92	6.5%	cbioportal
4	PTCH1	Ssm	6	92	6.5%	cbioportal
7	SMARCA4	Ssm	4	92	4.3%	cbioportal
6	KMT2C	Ssm	4	92	4.3%	cbioportal
5	ABCA13	Ssm	4	92	4.3%	cbioportal
16	TP53	Ssm	3	92	3.3%	cbioportal
8	BCOR	Ssm	3	92	3.3%	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
15	SPTB	Ssm	3	92	3.3%	cbioportal
17	TTN	Ssm	3	92	3.3%	cbioportal
30	CTDNEP1	Ssm	2	92	2.2%	cbioportal
18	ABCA2	Ssm	2	92	2.2%	cbioportal
19	ABCA8	Ssm	2	92	2.2%	cbioportal
20	ABCC6	Ssm	2	92	2.2%	cbioportal
21	ADAMTS12	Ssm	2	92	2.2%	cbioportal
22	ADD2	Ssm	2	92	2.2%	cbioportal
23	ADGRE2	Ssm	2	92	2.2%	cbioportal
24	ADH7	Ssm	2	92	2.2%	cbioportal
25	AHNAK	Ssm	2	92	2.2%	cbioportal
27	BAIAP3	Ssm	2	92	2.2%	cbioportal
26	ASAP3	Ssm	2	92	2.2%	cbioportal
28	CLEC12B	Ssm	2	92	2.2%	cbioportal
29	CSF2RA	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
11	MUC16	Ssm	17	491	3.5%	cbioportal
10	KDM6A	Ssm	17	491	3.5%	cbioportal
12	TP53	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
20	NME5	Ssm	11	491	2.2%	cbioportal
18	CDK1	Ssm	11	491	2.2%	cbioportal
22	GSE1	Ssm	10	491	2%	cbioportal
23	LAMA2	Ssm	10	491	2%	cbioportal
21	FBXW7	Ssm	10	491	2%	cbioportal
24	RSBN1L	Ssm	10	491	2%	cbioportal
25	CTDNEP1	Ssm	9	491	1.8%	cbioportal
26	PIK3CA	Ssm	9	491	1.8%	cbioportal
29	RYR3	Ssm	8	491	1.6%	cbioportal
28	MUC17	Ssm	8	491	1.6%	cbioportal
27	BCOR	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
5	SMARCA4	Ssm	6	125	4.8%	cbioportal
4	KMT2D	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
15	TRPC3	Ssm	3	125	2.4%	cbioportal
14	TLN2	Ssm	3	125	2.4%	cbioportal
13	NF1	Ssm	3	125	2.4%	cbioportal
11	FRAS1	Ssm	3	125	2.4%	cbioportal
12	KMT2C	Ssm	3	125	2.4%	cbioportal
9	CEP83	Ssm	3	125	2.4%	cbioportal
10	CUBN	Ssm	3	125	2.4%	cbioportal
24	CBFA2T2	Ssm	2	125	1.6%	cbioportal
30	DLG5	Ssm	2	125	1.6%	cbioportal
29	CPAMD8	Ssm	2	125	1.6%	cbioportal
28	CLDN24	Ssm	2	125	1.6%	cbioportal
27	CLCN2	Ssm	2	125	1.6%	cbioportal
26	CDH10	Ssm	2	125	1.6%	cbioportal
19	ANGEL2	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
25	CCAR1	Ssm	2	125	1.6%	cbioportal
20	AOC3	Ssm	2	125	1.6%	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

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
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
18	ZMYM3	Ssm	2	37	5.4%	cbioportal
19	ABCA4	Ssm	1	37	2.7%	cbioportal
22	ABI3BP	Ssm	1	37	2.7%	cbioportal
23	ACAN	Ssm	1	37	2.7%	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
20	ABCB9	Ssm	1	37	2.7%	cbioportal
21	ABCG2	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
8	VWA5B2	Ssm	5	46	10.9%	cbioportal
4	CREBBP	Ssm	5	46	10.9%	cbioportal
5	MUC16	Ssm	5	46	10.9%	cbioportal
6	MUC6	Ssm	5	46	10.9%	cbioportal
7	TG	Ssm	5	46	10.9%	cbioportal
13	KMT2D	Ssm	4	46	8.7%	cbioportal
12	FRAS1	Ssm	4	46	8.7%	cbioportal
11	FBXW7	Ssm	4	46	8.7%	cbioportal
10	ALAS1	Ssm	4	46	8.7%	cbioportal
18	VEPH1	Ssm	4	46	8.7%	cbioportal
9	ABCA13	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
28	DCHS2	Ssm	3	46	6.5%	cbioportal
30	DMBT1	Ssm	3	46	6.5%	cbioportal
20	ARID2	Ssm	3	46	6.5%	cbioportal
21	ATR	Ssm	3	46	6.5%	cbioportal
22	BDP1	Ssm	3	46	6.5%	cbioportal
23	BMPR2	Ssm	3	46	6.5%	cbioportal
24	CAPN9	Ssm	3	46	6.5%	cbioportal
25	CEMIP2	Ssm	3	46	6.5%	cbioportal
26	COL12A1	Ssm	3	46	6.5%	cbioportal
27	CR2	Ssm	3	46	6.5%	cbioportal
29	DDX3X	Ssm	3	46	6.5%	cbioportal
19	ABCA1	Ssm	3	46	6.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

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
9	MUC17	Ssm	8	696	1.1%	gdc
7	FBN2	Ssm	8	696	1.1%	gdc
8	AHNAK2	Ssm	8	696	1.1%	gdc
6	FAT2	Ssm	8	696	1.1%	gdc
10	DNAH17	Ssm	7	696	1%	gdc
12	KIAA1109	Ssm	7	696	1%	gdc
11	HMCN1	Ssm	7	696	1%	gdc
13	PTPN11	Ssm	7	696	1%	gdc
20	COL4A1	Ssm	6	696	0.9%	gdc
14	TNC	Ssm	6	696	0.9%	gdc
15	SPTA1	Ssm	6	696	0.9%	gdc
16	SYNE2	Ssm	6	696	0.9%	gdc
17	LRP1B	Ssm	6	696	0.9%	gdc
19	RYR1	Ssm	6	696	0.9%	gdc
18	AHNAK	Ssm	6	696	0.9%	gdc
32	ATP10B	Ssm	5	696	0.7%	gdc
31	ATRX	Ssm	5	696	0.7%	gdc
30	RELN	Ssm	5	696	0.7%	gdc
26	USH2A	Ssm	5	696	0.7%	gdc
25	DNAH3	Ssm	5	696	0.7%	gdc
33	FLG2	Ssm	5	696	0.7%	gdc
24	DOCK8	Ssm	5	696	0.7%	gdc
22	DNAH11	Ssm	5	696	0.7%	gdc
23	FRAS1	Ssm	5	696	0.7%	gdc
21	ABCA9	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
15	PDE8B	Ssm	2	87	2.3%	cbioportal
16	RFESD	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
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
21	AASS	Ssm	1	87	1.1%	cbioportal
198	HADHA	Ssm	1	87	1.1%	cbioportal
22	ABCA1	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

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
10	BLTP1	Ssm	6	240	2.5%	cbioportal
8	ABCA13	Ssm	6	240	2.5%	cbioportal
9	ATRX	Ssm	6	240	2.5%	cbioportal
11	HMCN1	Ssm	6	240	2.5%	cbioportal
12	LRP1B	Ssm	6	240	2.5%	cbioportal
13	RYR1	Ssm	6	240	2.5%	cbioportal
14	SPTA1	Ssm	6	240	2.5%	cbioportal
15	TNXB	Ssm	6	240	2.5%	cbioportal
25	TNC	Ssm	5	240	2.1%	cbioportal
19	FBN2	Ssm	5	240	2.1%	cbioportal
20	FREM2	Ssm	5	240	2.1%	cbioportal
21	MUC17	Ssm	5	240	2.1%	cbioportal
22	NBPF10	Ssm	5	240	2.1%	cbioportal
24	TCHH	Ssm	5	240	2.1%	cbioportal
16	AHNAK	Ssm	5	240	2.1%	cbioportal
23	SYNE2	Ssm	5	240	2.1%	cbioportal
17	DNAH5	Ssm	5	240	2.1%	cbioportal
18	DOCK8	Ssm	5	240	2.1%	cbioportal
50	SYNE1	Ssm	4	240	1.7%	cbioportal
51	TDRD6	Ssm	4	240	1.7%	cbioportal
53	USH2A	Ssm	4	240	1.7%	cbioportal
52	TRIO	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
26	XIRP2	Ssm	2	56	3.6%	cbioportal
23	TNXB	Ssm	2	56	3.6%	cbioportal
21	SNX21	Ssm	2	56	3.6%	cbioportal
22	TBP	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
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
25	WWP1	Ssm	2	56	3.6%	cbioportal
24	TTN	Ssm	2	56	3.6%	cbioportal
54	ANK3	Ssm	1	56	1.8%	cbioportal
53	ANGPTL4	Ssm	1	56	1.8%	cbioportal
55	ANO5	Ssm	1	56	1.8%	cbioportal
52	ANG	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
13	MYH2	Ssm	8	471	1.7%	cbioportal
12	FAT2	Ssm	8	471	1.7%	cbioportal
11	DOCK8	Ssm	8	471	1.7%	cbioportal
10	COL5A3	Ssm	8	471	1.7%	cbioportal
9	AHNAK2	Ssm	8	471	1.7%	cbioportal
8	AHNAK	Ssm	8	471	1.7%	cbioportal
7	ABCA13	Ssm	8	471	1.7%	cbioportal
16	TTN	Ssm	8	471	1.7%	cbioportal
14	RYR1	Ssm	8	471	1.7%	cbioportal
15	TNC	Ssm	8	471	1.7%	cbioportal
17	FBN2	Ssm	7	471	1.5%	cbioportal
18	RELN	Ssm	7	471	1.5%	cbioportal
27	NF1	Ssm	6	471	1.3%	cbioportal
26	MYCN	Ssm	6	471	1.3%	cbioportal
25	MET	Ssm	6	471	1.3%	cbioportal
28	SPTA1	Ssm	6	471	1.3%	cbioportal
24	LRP1B	Ssm	6	471	1.3%	cbioportal
23	LRIF1	Ssm	6	471	1.3%	cbioportal
22	HMCN1	Ssm	6	471	1.3%	cbioportal
21	DNAH17	Ssm	6	471	1.3%	cbioportal
20	COL4A1	Ssm	6	471	1.3%	cbioportal
19	COL12A1	Ssm	6	471	1.3%	cbioportal
29	ATP10B	Ssm	5	471	1.1%	cbioportal
30	BLTP1	Ssm	5	471	1.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-14

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
4	BRAF	Ssm	8	223	3.6%	cbioportal
5	BRCA2	Ssm	8	223	3.6%	cbioportal
6	TERT	Ssm	7	223	3.1%	cbioportal
15	KMT2B	Ssm	5	168	3%	cbioportal
7	CREBBP	Ssm	6	223	2.7%	cbioportal
8	FAT1	Ssm	6	223	2.7%	cbioportal
9	KMT2D	Ssm	6	223	2.7%	cbioportal
11	PTPN11	Ssm	6	223	2.7%	cbioportal
10	KRAS	Ssm	6	223	2.7%	cbioportal
12	ROS1	Ssm	6	223	2.7%	cbioportal
16	NCOR1	Ssm	5	223	2.2%	cbioportal
13	CD79B	Ssm	5	223	2.2%	cbioportal
14	IRS2	Ssm	5	223	2.2%	cbioportal
17	NF1	Ssm	5	223	2.2%	cbioportal
18	PDGFRA	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
24	NRAS	Ssm	4	223	1.8%	cbioportal
20	AXL	Ssm	4	223	1.8%	cbioportal
21	CDK12	Ssm	4	223	1.8%	cbioportal
22	ERBB3	Ssm	4	223	1.8%	cbioportal
19	ARID1A	Ssm	4	223	1.8%	cbioportal
25	PIK3R1	Ssm	4	223	1.8%	cbioportal
51	ZFHX3	Ssm	3	219	1.4%	cbioportal
48	TMPRSS2	Ssm	3	222	1.4%	cbioportal
42	PTPRT	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
7	TET2	Ssm	4	1,089	0.4%	cbioportal
4	COL6A3	Ssm	4	1,089	0.4%	cbioportal
6	NF1	Ssm	4	1,089	0.4%	cbioportal
5	NBPF1	Ssm	4	1,089	0.4%	cbioportal
8	AXL	Ssm	3	1,089	0.3%	cbioportal
9	COL5A3	Ssm	3	1,089	0.3%	cbioportal
10	MYCN	Ssm	3	1,089	0.3%	cbioportal
21	CSPG4	Ssm	2	1,089	0.2%	cbioportal
39	TNC	Ssm	2	1,089	0.2%	cbioportal
37	RIPOR1	Ssm	2	1,089	0.2%	cbioportal
36	RELN	Ssm	2	1,089	0.2%	cbioportal
35	PTPRC	Ssm	2	1,089	0.2%	cbioportal
34	NCOR2	Ssm	2	1,089	0.2%	cbioportal
33	MYH8	Ssm	2	1,089	0.2%	cbioportal
32	MYH1	Ssm	2	1,089	0.2%	cbioportal
31	MET	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
38	RYR1	Ssm	2	1,089	0.2%	cbioportal
20	COL12A1	Ssm	2	1,089	0.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

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
2	CD79B	Ssm	4	10	40%	cbioportal
3	DLGAP2	Ssm	4	10	40%	cbioportal
4	PIM1	Ssm	4	10	40%	cbioportal
5	SMG5	Ssm	4	10	40%	cbioportal
6	BTG2	Ssm	3	10	30%	cbioportal
7	CARD11	Ssm	3	10	30%	cbioportal
8	DSG4	Ssm	3	10	30%	cbioportal
9	DST	Ssm	3	10	30%	cbioportal
10	FAT4	Ssm	3	10	30%	cbioportal
11	KLHL14	Ssm	3	10	30%	cbioportal
12	LRP1B	Ssm	3	10	30%	cbioportal
13	PRR12	Ssm	3	10	30%	cbioportal
14	TCL1A	Ssm	3	10	30%	cbioportal
15	TENM1	Ssm	3	10	30%	cbioportal
17	AHNAK	Ssm	2	10	20%	cbioportal
16	A2ML1	Ssm	2	10	20%	cbioportal
18	ANGPTL6	Ssm	2	10	20%	cbioportal
19	APBA1	Ssm	2	10	20%	cbioportal
20	ARAF	Ssm	2	10	20%	cbioportal
21	BCL2	Ssm	2	10	20%	cbioportal
22	BSN	Ssm	2	10	20%	cbioportal
23	BTG1	Ssm	2	10	20%	cbioportal
24	C10ORF71	Ssm	2	10	20%	cbioportal
25	CCDC7	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
30	CNTNAP5	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
9	ETV6	Ssm	14	86	16.3%	cbioportal
10	TBL1XR1	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
16	CARD11	Ssm	9	86	10.5%	cbioportal
17	IRF4	Ssm	9	86	10.5%	cbioportal
15	B2M	Ssm	9	86	10.5%	cbioportal
18	MPEG1	Ssm	9	86	10.5%	cbioportal
20	H1-2	Ssm	8	86	9.3%	cbioportal
19	CREBBP	Ssm	8	86	9.3%	cbioportal
26	PCBP1	Ssm	7	86	8.1%	cbioportal
21	CCND3	Ssm	7	86	8.1%	cbioportal
22	CXCR4	Ssm	7	86	8.1%	cbioportal
23	FAT1	Ssm	7	86	8.1%	cbioportal
24	KMT2C	Ssm	7	86	8.1%	cbioportal
25	LTB	Ssm	7	86	8.1%	cbioportal
27	PCLO	Ssm	7	86	8.1%	cbioportal
28	PHOX2B	Ssm	7	86	8.1%	cbioportal
29	TP53	Ssm	7	86	8.1%	cbioportal
31	DDX3X	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
6	RPTOR	Ssm	3	83	3.6%	cbioportal
7	ZFHX3	Ssm	3	83	3.6%	cbioportal
4	BRD4	Ssm	3	83	3.6%	cbioportal
3	ARID1A	Ssm	3	83	3.6%	cbioportal
5	FAT1	Ssm	3	83	3.6%	cbioportal
19	PREX2	Ssm	2	78	2.6%	cbioportal
13	MSH3	Ssm	2	78	2.6%	cbioportal
18	POLE	Ssm	2	83	2.4%	cbioportal
20	TERT	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
14	NCOA3	Ssm	2	83	2.4%	cbioportal
15	NSD1	Ssm	2	83	2.4%	cbioportal
16	PIK3CD	Ssm	2	83	2.4%	cbioportal
17	POLD1	Ssm	2	83	2.4%	cbioportal
78	WHR1	Ssm	1	78	1.3%	cbioportal
25	BABAM1	Ssm	1	78	1.3%	cbioportal
30	CARM1	Ssm	1	78	1.3%	cbioportal
63	PRKD1	Ssm	1	78	1.3%	cbioportal
66	RAC2	Ssm	1	78	1.3%	cbioportal
67	RRAGC	Ssm	1	78	1.3%	cbioportal
68	RTEL1	Ssm	1	78	1.3%	cbioportal
74	TEK	Ssm	1	78	1.3%	cbioportal
76	TP53BP1	Ssm	1	78	1.3%	cbioportal
72	SOX17	Ssm	1	83	1.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-16