Melanoma — Genomics · CancerIndex

Genomics

Gene alteration frequencies by cohort

26 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.

Acral Melanoma (TGEN, Genome Res 2017) mel_tsam_liang_2017TGEN

38 cases with simple somatic mutation data · 38 cases total · 2026-01-08 · mapped to Melanoma EXACT_IDENTIFIER

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

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

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.

Cutaneous Melanoma (TCGA GDC, 2025) skcm_tcga_gdcTCGA GDC

469 cases with simple somatic mutation data · 473 cases total · 2026-01-13 · mapped to Cutaneous Melanoma EXACT_IDENTIFIER

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

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	337	469	71.9%	cbioportal
2	MUC16	Ssm	311	469	66.3%	cbioportal
3	BRAF	Ssm	235	469	50.1%	cbioportal
4	DNAH5	Ssm	231	469	49.3%	cbioportal
5	PCLO	Ssm	209	469	44.6%	cbioportal
6	LRP1B	Ssm	182	469	38.8%	cbioportal
7	ADGRV1	Ssm	166	469	35.4%	cbioportal
8	ANK3	Ssm	158	469	33.7%	cbioportal
9	CSMD1	Ssm	156	469	33.3%	cbioportal
10	DNAH7	Ssm	156	469	33.3%	cbioportal
11	MGAM	Ssm	152	469	32.4%	cbioportal
13	RP1	Ssm	151	469	32.2%	cbioportal
12	PKHD1L1	Ssm	151	469	32.2%	cbioportal
14	XIRP2	Ssm	151	469	32.2%	cbioportal
15	HYDIN	Ssm	149	469	31.8%	cbioportal
16	FAT4	Ssm	148	469	31.6%	cbioportal
17	APOB	Ssm	145	469	30.9%	cbioportal
18	DSCAM	Ssm	145	469	30.9%	cbioportal
19	FLG	Ssm	143	469	30.5%	cbioportal
20	DNAH8	Ssm	142	469	30.3%	cbioportal
22	USH2A	Ssm	141	469	30.1%	cbioportal
21	CSMD3	Ssm	141	469	30.1%	cbioportal
24	THSD7B	Ssm	139	469	29.6%	cbioportal
23	MUC17	Ssm	139	469	29.6%	cbioportal
25	CSMD2	Ssm	138	469	29.4%	cbioportal
26	FAT3	Ssm	138	469	29.4%	cbioportal
27	DNAH9	Ssm	137	469	29.2%	cbioportal
28	DNAH3	Ssm	130	469	27.7%	cbioportal
29	MXRA5	Ssm	129	469	27.5%	cbioportal
30	SPHKAP	Ssm	128	469	27.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Desmoplastic Melanoma (Broad Institute, Nat Genet 2015) desm_broad_2015Broad Institute

20 cases with simple somatic mutation data · 20 cases total · 2026-01-07 · mapped to Desmoplastic Melanoma EXACT_IDENTIFIER

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

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	18	20	90%	cbioportal
2	DSCAM	Ssm	16	20	80%	cbioportal
3	MUC16	Ssm	16	20	80%	cbioportal
4	PCLO	Ssm	15	20	75%	cbioportal
5	DNAH5	Ssm	14	20	70%	cbioportal
6	DCC	Ssm	13	20	65%	cbioportal
7	FSIP2	Ssm	13	20	65%	cbioportal
8	LRP1B	Ssm	13	20	65%	cbioportal
9	PKHD1L1	Ssm	13	20	65%	cbioportal
10	DNAH7	Ssm	12	20	60%	cbioportal
11	GRIN2A	Ssm	12	20	60%	cbioportal
22	ZNF536	Ssm	11	20	55%	cbioportal
12	CSMD1	Ssm	11	20	55%	cbioportal
13	DNAH6	Ssm	11	20	55%	cbioportal
14	MUC17	Ssm	11	20	55%	cbioportal
15	MXRA5	Ssm	11	20	55%	cbioportal
16	NEB	Ssm	11	20	55%	cbioportal
17	NEXMIF	Ssm	11	20	55%	cbioportal
18	SPHKAP	Ssm	11	20	55%	cbioportal
19	SYNE1	Ssm	11	20	55%	cbioportal
20	UNC13C	Ssm	11	20	55%	cbioportal
21	WDR87	Ssm	11	20	55%	cbioportal
23	ZNF831	Ssm	11	20	55%	cbioportal
25	COL4A4	Ssm	10	20	50%	cbioportal
27	CSMD3	Ssm	10	20	50%	cbioportal
28	DNAH9	Ssm	10	20	50%	cbioportal
29	FAT4	Ssm	10	20	50%	cbioportal
30	FLG	Ssm	10	20	50%	cbioportal
26	CSMD2	Ssm	10	20	50%	cbioportal
24	ANK3	Ssm	10	20	50%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Melanoma (Broad/Dana Farber, Nature 2012) skcm_broad_dfarberBroad/Dana Farber

26 cases with simple somatic mutation data · 26 cases total · 2026-01-13 · mapped to Cutaneous Melanoma EXACT_IDENTIFIER

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

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	MUC4	Ssm	19	26	73.1%	cbioportal
2	TTN	Ssm	18	26	69.2%	cbioportal
3	MUC16	Ssm	17	26	65.4%	cbioportal
4	MUC17	Ssm	13	26	50%	cbioportal
8	PCLO	Ssm	12	26	46.2%	cbioportal
7	DNAH8	Ssm	12	26	46.2%	cbioportal
6	DNAH5	Ssm	12	26	46.2%	cbioportal
5	BRAF	Ssm	12	26	46.2%	cbioportal
10	PREX2	Ssm	11	26	42.3%	cbioportal
9	KMT2C	Ssm	11	26	42.3%	cbioportal
12	CSMD1	Ssm	10	26	38.5%	cbioportal
13	TRIOBP	Ssm	10	26	38.5%	cbioportal
11	ANK3	Ssm	10	26	38.5%	cbioportal
14	APOB	Ssm	9	26	34.6%	cbioportal
15	FLG	Ssm	9	26	34.6%	cbioportal
16	NRAS	Ssm	9	26	34.6%	cbioportal
29	ZAN	Ssm	8	26	30.8%	cbioportal
17	ADGRV1	Ssm	8	26	30.8%	cbioportal
18	DNAH7	Ssm	8	26	30.8%	cbioportal
19	LRP1B	Ssm	8	26	30.8%	cbioportal
20	MST1	Ssm	8	26	30.8%	cbioportal
21	MUC2	Ssm	8	26	30.8%	cbioportal
22	MUC5B	Ssm	8	26	30.8%	cbioportal
23	MYO18B	Ssm	8	26	30.8%	cbioportal
24	NBPF1	Ssm	8	26	30.8%	cbioportal
25	PRG4	Ssm	8	26	30.8%	cbioportal
26	SCN1A	Ssm	8	26	30.8%	cbioportal
27	SPHKAP	Ssm	8	26	30.8%	cbioportal
28	USH2A	Ssm	8	26	30.8%	cbioportal
30	ZFHX4	Ssm	8	26	30.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Melanoma (MSK, Cell 2017) - iAtlas Harmonized mel_iatlas_riaz_nivolumab_2017

73 cases with simple somatic mutation data · 107 cases total · 2026-02-11 · mapped to Melanoma EXACT_IDENTIFIER

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

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	MUC16	Ssm	36	73	49.3%	cbioportal
2	TTN	Ssm	35	73	47.9%	cbioportal
3	BRAF	Ssm	25	73	34.2%	cbioportal
4	PCLO	Ssm	25	73	34.2%	cbioportal
6	DNAH5	Ssm	21	73	28.8%	cbioportal
5	CSMD1	Ssm	21	73	28.8%	cbioportal
7	OBSCN	Ssm	21	73	28.8%	cbioportal
9	NRAS	Ssm	20	73	27.4%	cbioportal
8	LRP1B	Ssm	20	73	27.4%	cbioportal
10	PKHD1L1	Ssm	19	73	26%	cbioportal
13	FAT3	Ssm	18	73	24.7%	cbioportal
11	ADGRV1	Ssm	18	73	24.7%	cbioportal
14	ZFHX4	Ssm	18	73	24.7%	cbioportal
12	DNAH8	Ssm	18	73	24.7%	cbioportal
15	CACNA1A	Ssm	17	73	23.3%	cbioportal
16	MUC17	Ssm	17	73	23.3%	cbioportal
18	FLG	Ssm	16	73	21.9%	cbioportal
17	CSMD2	Ssm	16	73	21.9%	cbioportal
19	RP1	Ssm	16	73	21.9%	cbioportal
21	ANK3	Ssm	15	73	20.5%	cbioportal
22	COL6A3	Ssm	15	73	20.5%	cbioportal
20	ADAMTS20	Ssm	15	73	20.5%	cbioportal
23	ASXL3	Ssm	14	73	19.2%	cbioportal
25	DSP	Ssm	14	73	19.2%	cbioportal
26	MXRA5	Ssm	14	73	19.2%	cbioportal
27	WDFY4	Ssm	14	73	19.2%	cbioportal
24	DNAH6	Ssm	14	73	19.2%	cbioportal
30	CRB1	Ssm	13	73	17.8%	cbioportal
28	BRINP3	Ssm	13	73	17.8%	cbioportal
29	CFAP54	Ssm	13	73	17.8%	cbioportal

Data updated 22 days agoSource updated 2026-02-11

Melanoma (MSK, Clin Cancer Res 2021) mel_mskimpact_2020MSK

696 cases with simple somatic mutation data · 696 cases total · 2026-01-08 · mapped to Cutaneous Melanoma EXACT_IDENTIFIER

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

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TERT	Ssm	575	696	82.6%	cbioportal
2	BRAF	Ssm	301	696	43.2%	cbioportal
3	PTPRT	Ssm	254	696	36.5%	cbioportal
15	PREX2	Ssm	141	437	32.3%	cbioportal
4	GRIN2A	Ssm	217	696	31.2%	cbioportal
5	NRAS	Ssm	207	696	29.7%	cbioportal
6	PTPRD	Ssm	199	696	28.6%	cbioportal
8	ROS1	Ssm	194	696	27.9%	cbioportal
7	NF1	Ssm	194	696	27.9%	cbioportal
9	PAK5	Ssm	189	696	27.2%	cbioportal
10	TP53	Ssm	183	696	26.3%	cbioportal
11	KMT2D	Ssm	165	696	23.7%	cbioportal
12	ERBB4	Ssm	161	696	23.1%	cbioportal
33	KMT2B	Ssm	97	437	22.2%	cbioportal
13	TP63	Ssm	153	696	22%	cbioportal
14	PIK3C2G	Ssm	149	696	21.4%	cbioportal
17	EPHA7	Ssm	140	658	21.3%	cbioportal
16	CDKN2A	Ssm	140	696	20.1%	cbioportal
18	FAT1	Ssm	136	696	19.5%	cbioportal
19	KDR	Ssm	131	696	18.8%	cbioportal
20	NOTCH4	Ssm	129	696	18.5%	cbioportal
21	KMT2C	Ssm	124	696	17.8%	cbioportal
22	NOTCH3	Ssm	118	696	17%	cbioportal
23	KMT2A	Ssm	117	696	16.8%	cbioportal
24	ALK	Ssm	115	696	16.5%	cbioportal
25	FLT1	Ssm	111	696	15.9%	cbioportal
26	CARD11	Ssm	110	696	15.8%	cbioportal
27	ARID2	Ssm	109	696	15.7%	cbioportal
31	ZFHX3	Ssm	99	658	15%	cbioportal
29	EPHA3	Ssm	103	696	14.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Melanoma (MSK, NEJM 2014) skcm_mskcc_2014MSK

64 cases with simple somatic mutation data · 64 cases total · 2026-01-13 · mapped to Cutaneous Melanoma EXACT_IDENTIFIER

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

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	MUC16	Ssm	49	64	76.6%	cbioportal
2	TTN	Ssm	48	64	75%	cbioportal
3	DNAH5	Ssm	36	64	56.3%	cbioportal
4	PCLO	Ssm	33	64	51.6%	cbioportal
5	FAT4	Ssm	32	64	50%	cbioportal
6	BRAF	Ssm	30	64	46.9%	cbioportal
7	RP1	Ssm	28	64	43.8%	cbioportal
8	ADGRV1	Ssm	26	64	40.6%	cbioportal
11	XIRP2	Ssm	26	64	40.6%	cbioportal
10	LRP1B	Ssm	26	64	40.6%	cbioportal
9	CSMD1	Ssm	26	64	40.6%	cbioportal
13	HYDIN	Ssm	25	64	39.1%	cbioportal
12	DNAH7	Ssm	25	64	39.1%	cbioportal
14	PKHD1L1	Ssm	25	64	39.1%	cbioportal
15	DCC	Ssm	24	64	37.5%	cbioportal
19	USH2A	Ssm	23	64	35.9%	cbioportal
16	CSMD3	Ssm	23	64	35.9%	cbioportal
17	DNAH8	Ssm	23	64	35.9%	cbioportal
18	OBSCN	Ssm	23	64	35.9%	cbioportal
22	PCDH15	Ssm	22	64	34.4%	cbioportal
20	ANK3	Ssm	22	64	34.4%	cbioportal
21	APOB	Ssm	22	64	34.4%	cbioportal
23	CSMD2	Ssm	21	64	32.8%	cbioportal
30	ZNF804A	Ssm	20	64	31.3%	cbioportal
24	DSCAM	Ssm	20	64	31.3%	cbioportal
25	FMN2	Ssm	20	64	31.3%	cbioportal
26	NPAP1	Ssm	20	64	31.3%	cbioportal
27	SCN10A	Ssm	20	64	31.3%	cbioportal
28	THSD7B	Ssm	20	64	31.3%	cbioportal
29	UNC13C	Ssm	20	64	31.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Melanomas (TCGA, Cell 2015) skcm_tcga_pub_2015TCGA

346 cases with simple somatic mutation data · 359 cases total · 2026-01-13 · mapped to Cutaneous Melanoma EXACT_IDENTIFIER

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

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	246	346	71.1%	cbioportal
2	MUC16	Ssm	232	346	67.1%	cbioportal
3	PCDHAC2	Ssm	184	346	53.2%	cbioportal
4	BRAF	Ssm	177	346	51.2%	cbioportal
5	DNAH5	Ssm	171	346	49.4%	cbioportal
6	PCDHGC5	Ssm	164	346	47.4%	cbioportal
7	PCLO	Ssm	150	346	43.4%	cbioportal
8	APOB	Ssm	129	346	37.3%	cbioportal
9	LRP1B	Ssm	125	346	36.1%	cbioportal
10	ADGRV1	Ssm	123	346	35.5%	cbioportal
12	RP1	Ssm	118	346	34.1%	cbioportal
11	CSMD1	Ssm	118	346	34.1%	cbioportal
13	FAT3	Ssm	117	346	33.8%	cbioportal
14	MGAM	Ssm	116	346	33.5%	cbioportal
15	DNAH7	Ssm	114	346	32.9%	cbioportal
16	XIRP2	Ssm	114	346	32.9%	cbioportal
17	MUC17	Ssm	113	346	32.7%	cbioportal
18	ANK3	Ssm	111	346	32.1%	cbioportal
19	FLG	Ssm	111	346	32.1%	cbioportal
20	DSCAM	Ssm	108	346	31.2%	cbioportal
21	USH2A	Ssm	108	346	31.2%	cbioportal
22	CSMD3	Ssm	106	346	30.6%	cbioportal
23	PKHD1L1	Ssm	105	346	30.3%	cbioportal
24	CSMD2	Ssm	104	346	30.1%	cbioportal
25	DNAH8	Ssm	103	346	29.8%	cbioportal
26	DNAH9	Ssm	103	346	29.8%	cbioportal
27	THSD7B	Ssm	103	346	29.8%	cbioportal
28	DNAH3	Ssm	102	346	29.5%	cbioportal
29	FAT4	Ssm	102	346	29.5%	cbioportal
30	MXRA5	Ssm	100	346	28.9%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Metastatic Melanoma (DFCI, Nat Med. 2019) - iAtlas Harmonized mel_iatlas_liu_2019

122 cases with simple somatic mutation data · 122 cases total · 2026-02-11 · mapped to Melanoma EXACT_IDENTIFIER

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

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	83	122	68%	cbioportal
2	MUC16	Ssm	77	122	63.1%	cbioportal
3	DNAH5	Ssm	60	122	49.2%	cbioportal
4	PCLO	Ssm	56	122	45.9%	cbioportal
5	BRAF	Ssm	50	122	41%	cbioportal
6	RP1	Ssm	47	122	38.5%	cbioportal
7	DNAH6	Ssm	46	122	37.7%	cbioportal
8	LRP1B	Ssm	45	122	36.9%	cbioportal
9	ANK3	Ssm	44	122	36.1%	cbioportal
10	CSMD1	Ssm	43	122	35.2%	cbioportal
11	NEB	Ssm	43	122	35.2%	cbioportal
12	APOB	Ssm	42	122	34.4%	cbioportal
13	DNAH7	Ssm	42	122	34.4%	cbioportal
14	OBSCN	Ssm	42	122	34.4%	cbioportal
15	PKHD1L1	Ssm	41	122	33.6%	cbioportal
16	FSIP2	Ssm	40	122	32.8%	cbioportal
17	MUC17	Ssm	40	122	32.8%	cbioportal
18	ADGRV1	Ssm	39	122	32%	cbioportal
19	FLG	Ssm	39	122	32%	cbioportal
20	MXRA5	Ssm	38	122	31.1%	cbioportal
21	SYNE1	Ssm	38	122	31.1%	cbioportal
22	ZFHX4	Ssm	38	122	31.1%	cbioportal
23	NRAS	Ssm	37	122	30.3%	cbioportal
24	DNAH9	Ssm	36	122	29.5%	cbioportal
25	CFAP54	Ssm	35	122	28.7%	cbioportal
26	THSD7B	Ssm	34	122	27.9%	cbioportal
27	FAT4	Ssm	33	122	27%	cbioportal
28	WDFY4	Ssm	33	122	27%	cbioportal
30	CSMD2	Ssm	32	122	26.2%	cbioportal
29	ABCA13	Ssm	32	122	26.2%	cbioportal

Data updated 22 days agoSource updated 2026-02-11

Metastatic Melanoma (DFCI, Nature Medicine 2019) mel_dfci_2019DFCI

144 cases with simple somatic mutation data · 144 cases total · 2026-02-10 · mapped to Melanoma EXACT_IDENTIFIER

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

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	92	144	63.9%	cbioportal
2	MUC16	Ssm	86	144	59.7%	cbioportal
3	DNAH5	Ssm	69	144	47.9%	cbioportal
4	PCLO	Ssm	65	144	45.1%	cbioportal
5	LRP1B	Ssm	57	144	39.6%	cbioportal
6	BRAF	Ssm	56	144	38.9%	cbioportal
7	DNAH6	Ssm	49	144	34%	cbioportal
8	MXRA5	Ssm	48	144	33.3%	cbioportal
9	PKHD1L1	Ssm	48	144	33.3%	cbioportal
10	RP1	Ssm	48	144	33.3%	cbioportal
12	CSMD1	Ssm	47	144	32.6%	cbioportal
11	ANK3	Ssm	47	144	32.6%	cbioportal
16	OBSCN	Ssm	45	144	31.3%	cbioportal
13	APOB	Ssm	45	144	31.3%	cbioportal
15	MGAM	Ssm	45	144	31.3%	cbioportal
14	DNAH7	Ssm	45	144	31.3%	cbioportal
17	ADGRV1	Ssm	43	144	29.9%	cbioportal
18	FAT4	Ssm	43	144	29.9%	cbioportal
19	FSIP2	Ssm	43	144	29.9%	cbioportal
20	NRAS	Ssm	43	144	29.9%	cbioportal
21	NEB	Ssm	42	144	29.2%	cbioportal
23	CSMD2	Ssm	41	144	28.5%	cbioportal
24	MUC17	Ssm	41	144	28.5%	cbioportal
22	CFAP54	Ssm	41	144	28.5%	cbioportal
26	HYDIN	Ssm	40	144	27.8%	cbioportal
25	FLG	Ssm	40	144	27.8%	cbioportal
28	FAT3	Ssm	39	144	27.1%	cbioportal
29	ZFHX4	Ssm	39	144	27.1%	cbioportal
27	CSMD3	Ssm	39	144	27.1%	cbioportal
30	DNAH9	Ssm	38	144	26.4%	cbioportal

Data updated 22 days agoSource updated 2026-02-10

Metastatic Melanoma (DFCI, Science 2015) skcm_dfci_2015DFCI

110 cases with simple somatic mutation data · 110 cases total · 2026-08-20 · mapped to Cutaneous Melanoma EXACT_IDENTIFIER

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

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	70	110	63.6%	cbioportal
2	MUC16	Ssm	67	110	60.9%	cbioportal
3	DNAH5	Ssm	42	110	38.2%	cbioportal
5	PCLO	Ssm	39	110	35.5%	cbioportal
4	BRAF	Ssm	39	110	35.5%	cbioportal
6	USH2A	Ssm	37	110	33.6%	cbioportal
7	NRAS	Ssm	34	110	30.9%	cbioportal
8	ANK3	Ssm	33	110	30%	cbioportal
9	CSMD1	Ssm	32	110	29.1%	cbioportal
10	LRP1B	Ssm	32	110	29.1%	cbioportal
11	DNAH3	Ssm	31	110	28.2%	cbioportal
12	ADGRV1	Ssm	30	110	27.3%	cbioportal
13	CSMD3	Ssm	30	110	27.3%	cbioportal
15	XIRP2	Ssm	30	110	27.3%	cbioportal
14	PKHD1L1	Ssm	30	110	27.3%	cbioportal
16	DNAH11	Ssm	29	110	26.4%	cbioportal
17	DNAH8	Ssm	29	110	26.4%	cbioportal
19	MAGEC1	Ssm	29	110	26.4%	cbioportal
18	FLG	Ssm	29	110	26.4%	cbioportal
22	SPHKAP	Ssm	28	110	25.5%	cbioportal
21	HYDIN	Ssm	28	110	25.5%	cbioportal
20	ERICH3	Ssm	28	110	25.5%	cbioportal
24	CSMD2	Ssm	27	110	24.5%	cbioportal
23	APOB	Ssm	27	110	24.5%	cbioportal
28	PCDH15	Ssm	26	110	23.6%	cbioportal
29	PREX2	Ssm	26	110	23.6%	cbioportal
27	MUC17	Ssm	26	110	23.6%	cbioportal
26	DOCK3	Ssm	26	110	23.6%	cbioportal
25	CACNA1E	Ssm	26	110	23.6%	cbioportal
30	TENM3	Ssm	26	110	23.6%	cbioportal

Data updated 22 days agoSource updated 2026-08-20

Metastatic Melanoma (MSK, JCO Precis Oncol 2017) skcm_vanderbilt_mskcc_2015MSK

66 cases with simple somatic mutation data · 66 cases total · 2026-01-13 · mapped to Cutaneous Melanoma EXACT_IDENTIFIER

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

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	BRAF	Ssm	66	66	100%	cbioportal
2	PTPRT	Ssm	16	66	24.2%	cbioportal
3	KMT2C	Ssm	14	66	21.2%	cbioportal
5	GRM3	Ssm	13	66	19.7%	cbioportal
4	CDKN2A	Ssm	13	66	19.7%	cbioportal
6	NOTCH4	Ssm	12	66	18.2%	cbioportal
92	CBLC	Ssm	2	11	18.2%	cbioportal
7	PAK5	Ssm	12	66	18.2%	cbioportal
116	MAP3K1	Ssm	2	11	18.2%	cbioportal
8	GRIN2A	Ssm	11	66	16.7%	cbioportal
10	PTEN	Ssm	11	66	16.7%	cbioportal
9	PREX2	Ssm	11	66	16.7%	cbioportal
11	PTPRD	Ssm	10	66	15.2%	cbioportal
12	TP53	Ssm	10	66	15.2%	cbioportal
15	SMARCA4	Ssm	9	66	13.6%	cbioportal
14	MAGI2	Ssm	9	66	13.6%	cbioportal
13	EPHA6	Ssm	9	66	13.6%	cbioportal
17	KMT2D	Ssm	8	66	12.1%	cbioportal
16	ATM	Ssm	8	66	12.1%	cbioportal
19	TERT	Ssm	8	66	12.1%	cbioportal
18	ROS1	Ssm	8	66	12.1%	cbioportal
22	EPHA10	Ssm	7	66	10.6%	cbioportal
20	AR	Ssm	7	66	10.6%	cbioportal
23	EPHA7	Ssm	7	66	10.6%	cbioportal
25	PIK3C2G	Ssm	7	66	10.6%	cbioportal
24	FAT1	Ssm	7	66	10.6%	cbioportal
21	CARD11	Ssm	7	66	10.6%	cbioportal
27	ERBB4	Ssm	6	66	9.1%	cbioportal
198	SMAD3	Ssm	1	11	9.1%	cbioportal
26	APC	Ssm	6	66	9.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Metastatic Melanoma (UCLA, Cell 2016) mel_ucla_2016UCLA

38 cases with simple somatic mutation data · 38 cases total · 2026-02-10 · mapped to Melanoma EXACT_IDENTIFIER

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

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	31	38	81.6%	cbioportal
2	MUC16	Ssm	29	38	76.3%	cbioportal
3	MUC4	Ssm	26	38	68.4%	cbioportal
4	DNAH5	Ssm	24	38	63.2%	cbioportal
5	CSMD1	Ssm	23	38	60.5%	cbioportal
7	PCLO	Ssm	22	38	57.9%	cbioportal
6	HYDIN	Ssm	22	38	57.9%	cbioportal
8	LRP1B	Ssm	20	38	52.6%	cbioportal
11	THSD7B	Ssm	19	38	50%	cbioportal
9	DNAH7	Ssm	19	38	50%	cbioportal
10	FLG	Ssm	19	38	50%	cbioportal
13	DNAH3	Ssm	18	38	47.4%	cbioportal
12	ANK3	Ssm	18	38	47.4%	cbioportal
14	MGAM2	Ssm	18	38	47.4%	cbioportal
15	OBSCN	Ssm	18	38	47.4%	cbioportal
16	SPHKAP	Ssm	18	38	47.4%	cbioportal
17	WDR87	Ssm	18	38	47.4%	cbioportal
19	DSCAM	Ssm	17	38	44.7%	cbioportal
18	DNAH9	Ssm	17	38	44.7%	cbioportal
20	ADGRV1	Ssm	16	38	42.1%	cbioportal
21	APOB	Ssm	16	38	42.1%	cbioportal
22	USH2A	Ssm	16	38	42.1%	cbioportal
27	MUC17	Ssm	15	38	39.5%	cbioportal
29	WDFY4	Ssm	15	38	39.5%	cbioportal
28	RP1	Ssm	15	38	39.5%	cbioportal
23	CRB1	Ssm	15	38	39.5%	cbioportal
24	DMBT1	Ssm	15	38	39.5%	cbioportal
25	FCGBP	Ssm	15	38	39.5%	cbioportal
26	MGAM	Ssm	15	38	39.5%	cbioportal
30	CFAP54	Ssm	14	38	36.8%	cbioportal

Data updated 22 days agoSource updated 2026-02-10

Metastatic Melanoma (UCLA, Cell 2016) - iAtlas Harmonized mel_iatlas_hugo_ucla_2016

27 cases with simple somatic mutation data · 27 cases total · 2026-02-11 · mapped to Melanoma EXACT_IDENTIFIER

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

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	25	27	92.6%	cbioportal
2	MUC16	Ssm	23	27	85.2%	cbioportal
3	DNAH5	Ssm	18	27	66.7%	cbioportal
5	LRP1B	Ssm	17	27	63%	cbioportal
4	CSMD1	Ssm	17	27	63%	cbioportal
8	THSD7B	Ssm	16	27	59.3%	cbioportal
7	PCLO	Ssm	16	27	59.3%	cbioportal
6	BRAF	Ssm	16	27	59.3%	cbioportal
12	RP1	Ssm	15	27	55.6%	cbioportal
10	DNAH7	Ssm	15	27	55.6%	cbioportal
9	APOB	Ssm	15	27	55.6%	cbioportal
11	HYDIN	Ssm	15	27	55.6%	cbioportal
22	WDFY4	Ssm	14	27	51.9%	cbioportal
20	NEB	Ssm	14	27	51.9%	cbioportal
19	FLG	Ssm	14	27	51.9%	cbioportal
18	FAT4	Ssm	14	27	51.9%	cbioportal
17	DNAH3	Ssm	14	27	51.9%	cbioportal
16	CRB1	Ssm	14	27	51.9%	cbioportal
15	CFAP54	Ssm	14	27	51.9%	cbioportal
14	ANK3	Ssm	14	27	51.9%	cbioportal
13	ADGRV1	Ssm	14	27	51.9%	cbioportal
21	OBSCN	Ssm	14	27	51.9%	cbioportal
24	DNAH9	Ssm	13	27	48.1%	cbioportal
23	CSMD2	Ssm	13	27	48.1%	cbioportal
25	MUC17	Ssm	13	27	48.1%	cbioportal
26	SPHKAP	Ssm	13	27	48.1%	cbioportal
27	TRANK1	Ssm	13	27	48.1%	cbioportal
28	WDR87	Ssm	13	27	48.1%	cbioportal
30	DSCAM	Ssm	12	27	44.4%	cbioportal
29	COL4A4	Ssm	12	27	44.4%	cbioportal

Data updated 22 days agoSource updated 2026-02-11

Skin Cutaneous Melanoma TCGA-SKCMTCGA

470 cases with simple somatic mutation data · 470 cases total · Data Release 46.0 · mapped to Cutaneous Melanoma ONTOLOGY_EXACT

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

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	388	470	82.6%	gdc
2	MUC16	Ssm	377	470	80.2%	gdc
3	ANK3	Ssm	375	470	79.8%	gdc
4	CDKN2A	Ssm	361	470	76.8%	gdc
5	PTPRD	Ssm	360	470	76.6%	gdc
6	CDKN2B	Ssm	356	470	75.7%	gdc
7	AL359922.1	Ssm	354	470	75.3%	gdc
9	DMBT1	Ssm	352	470	74.9%	gdc
8	FREM1	Ssm	352	470	74.9%	gdc
10	MTAP	Ssm	351	470	74.7%	gdc
11	DNAH5	Ssm	350	470	74.5%	gdc
12	DMRTA1	Ssm	346	470	73.6%	gdc
14	PCLO	Ssm	342	470	72.8%	gdc
13	TAF1L	Ssm	342	470	72.8%	gdc
18	ADAMTSL1	Ssm	341	470	72.6%	gdc
15	IFNE	Ssm	341	470	72.6%	gdc
16	IFNA16	Ssm	341	470	72.6%	gdc
17	SYNE1	Ssm	341	470	72.6%	gdc
19	IFNA7	Ssm	340	470	72.3%	gdc
20	PCDH15	Ssm	339	470	72.1%	gdc
23	IFNA14	Ssm	339	470	72.1%	gdc
21	IFNA4	Ssm	339	470	72.1%	gdc
22	MGAM	Ssm	339	470	72.1%	gdc
24	ELAVL2	Ssm	338	470	71.9%	gdc
28	BNC2	Ssm	338	470	71.9%	gdc
27	IFNA21	Ssm	338	470	71.9%	gdc
26	FOCAD	Ssm	338	470	71.9%	gdc
25	IFNA6	Ssm	338	470	71.9%	gdc
29	SH3GL2	Ssm	337	470	71.7%	gdc
30	IFNW1	Ssm	336	470	71.5%	gdc

Data updated 22 days agoSource updated Data Release 46.0

Skin Cutaneous Melanoma(Broad, Cancer Discov 2014) skcm_broad_brafresist_2012Broad

78 cases with simple somatic mutation data · 78 cases total · 2026-01-13 · mapped to Cutaneous Melanoma EXACT_IDENTIFIER

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

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	BRAF	Ssm	67	78	85.9%	cbioportal
2	TTN	Ssm	60	78	76.9%	cbioportal
3	MUC16	Ssm	53	78	67.9%	cbioportal
4	PRB2	Ssm	38	78	48.7%	cbioportal
5	CRIPAK	Ssm	31	78	39.7%	cbioportal
6	PRG4	Ssm	31	78	39.7%	cbioportal
7	ANKRD30A	Ssm	29	78	37.2%	cbioportal
8	MUC17	Ssm	29	78	37.2%	cbioportal
9	TCHH	Ssm	29	78	37.2%	cbioportal
10	TRIOBP	Ssm	29	78	37.2%	cbioportal
12	PCLO	Ssm	27	78	34.6%	cbioportal
11	DNAH7	Ssm	27	78	34.6%	cbioportal
13	ZNF208	Ssm	27	78	34.6%	cbioportal
16	DCC	Ssm	26	78	33.3%	cbioportal
15	CSMD1	Ssm	26	78	33.3%	cbioportal
14	ADGRV1	Ssm	26	78	33.3%	cbioportal
18	LRP1B	Ssm	26	78	33.3%	cbioportal
23	ZAN	Ssm	26	78	33.3%	cbioportal
22	RP1	Ssm	26	78	33.3%	cbioportal
21	NEB	Ssm	26	78	33.3%	cbioportal
20	MAGEC1	Ssm	26	78	33.3%	cbioportal
19	LRP2	Ssm	26	78	33.3%	cbioportal
17	FAT4	Ssm	26	78	33.3%	cbioportal
26	MUC4	Ssm	25	78	32.1%	cbioportal
24	DNAH5	Ssm	25	78	32.1%	cbioportal
25	FRG1BP	Ssm	25	78	32.1%	cbioportal
27	CACNA1E	Ssm	24	78	30.8%	cbioportal
28	RYR1	Ssm	24	78	30.8%	cbioportal
30	DSCAM	Ssm	23	78	29.5%	cbioportal
29	COL11A1	Ssm	23	78	29.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Skin Cutaneous Melanoma (Broad, Cell 2012) skcm_broadBroad

121 cases with simple somatic mutation data · 121 cases total · 2026-01-13 · mapped to Cutaneous Melanoma EXACT_IDENTIFIER

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

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	98	121	81%	cbioportal
2	MUC16	Ssm	88	121	72.7%	cbioportal
3	BRAF	Ssm	76	121	62.8%	cbioportal
4	DNAH5	Ssm	61	121	50.4%	cbioportal
6	PCLO	Ssm	56	121	46.3%	cbioportal
5	LRP1B	Ssm	56	121	46.3%	cbioportal
7	CSMD1	Ssm	48	121	39.7%	cbioportal
9	PKHD1L1	Ssm	47	121	38.8%	cbioportal
8	APOB	Ssm	47	121	38.8%	cbioportal
10	ANK3	Ssm	46	121	38%	cbioportal
12	MUC17	Ssm	46	121	38%	cbioportal
11	DNAH7	Ssm	46	121	38%	cbioportal
13	USH2A	Ssm	44	121	36.4%	cbioportal
14	ADGRV1	Ssm	43	121	35.5%	cbioportal
15	CSMD2	Ssm	43	121	35.5%	cbioportal
16	DNAH8	Ssm	42	121	34.7%	cbioportal
17	FAT4	Ssm	41	121	33.9%	cbioportal
18	ZFHX4	Ssm	40	121	33.1%	cbioportal
19	HYDIN	Ssm	39	121	32.2%	cbioportal
20	MGAM	Ssm	38	121	31.4%	cbioportal
21	MXRA5	Ssm	38	121	31.4%	cbioportal
23	UNC13C	Ssm	37	121	30.6%	cbioportal
22	PREX2	Ssm	37	121	30.6%	cbioportal
27	SPHKAP	Ssm	36	121	29.8%	cbioportal
25	MYH4	Ssm	36	121	29.8%	cbioportal
24	FAT3	Ssm	36	121	29.8%	cbioportal
26	RP1	Ssm	36	121	29.8%	cbioportal
30	THSD7B	Ssm	35	121	28.9%	cbioportal
28	CSMD3	Ssm	35	121	28.9%	cbioportal
29	PAPPA2	Ssm	35	121	28.9%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Skin Cutaneous Melanoma (TCGA, Firehose Legacy) skcm_tcgaTCGA

368 cases with simple somatic mutation data · 480 cases total · 2026-01-13 · mapped to Cutaneous Melanoma EXACT_IDENTIFIER

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

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	265	368	72%	cbioportal
2	MUC16	Ssm	250	368	67.9%	cbioportal
3	BRAF	Ssm	189	368	51.4%	cbioportal
4	DNAH5	Ssm	179	368	48.6%	cbioportal
5	PCLO	Ssm	160	368	43.5%	cbioportal
6	LRP1B	Ssm	138	368	37.5%	cbioportal
7	CSMD1	Ssm	130	368	35.3%	cbioportal
8	ADGRV1	Ssm	127	368	34.5%	cbioportal
9	MGAM	Ssm	123	368	33.4%	cbioportal
10	RP1	Ssm	123	368	33.4%	cbioportal
11	DNAH7	Ssm	122	368	33.2%	cbioportal
12	ANK3	Ssm	118	368	32.1%	cbioportal
13	XIRP2	Ssm	116	368	31.5%	cbioportal
14	DSCAM	Ssm	115	368	31.3%	cbioportal
15	APOB	Ssm	114	368	31%	cbioportal
17	CSMD3	Ssm	113	368	30.7%	cbioportal
16	CSMD2	Ssm	113	368	30.7%	cbioportal
18	FLG	Ssm	113	368	30.7%	cbioportal
20	PKHD1L1	Ssm	112	368	30.4%	cbioportal
19	MUC17	Ssm	112	368	30.4%	cbioportal
21	DNAH9	Ssm	111	368	30.2%	cbioportal
22	USH2A	Ssm	110	368	29.9%	cbioportal
23	FAT4	Ssm	109	368	29.6%	cbioportal
24	THSD7B	Ssm	108	368	29.3%	cbioportal
25	FAT3	Ssm	107	368	29.1%	cbioportal
26	DNAH8	Ssm	106	368	28.8%	cbioportal
27	DNAH3	Ssm	104	368	28.3%	cbioportal
28	MXRA5	Ssm	102	368	27.7%	cbioportal
29	PTPRT	Ssm	102	368	27.7%	cbioportal
30	NRAS	Ssm	98	368	26.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) skcm_tcga_pan_can_atlas_2018TCGA

440 cases with simple somatic mutation data · 448 cases total · 2026-06-04 · mapped to Cutaneous Melanoma EXACT_IDENTIFIER

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

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	352	440	80%	cbioportal
2	MUC16	Ssm	325	440	73.9%	cbioportal
3	DNAH5	Ssm	248	440	56.4%	cbioportal
4	BRAF	Ssm	233	440	53%	cbioportal
5	PCLO	Ssm	216	440	49.1%	cbioportal
6	LRP1B	Ssm	206	440	46.8%	cbioportal
7	ADGRV1	Ssm	198	440	45%	cbioportal
8	PKHD1L1	Ssm	185	440	42%	cbioportal
9	DNAH7	Ssm	179	440	40.7%	cbioportal
10	MGAM	Ssm	176	440	40%	cbioportal
11	CSMD1	Ssm	175	440	39.8%	cbioportal
12	CSMD2	Ssm	174	440	39.5%	cbioportal
13	FAT4	Ssm	171	440	38.9%	cbioportal
14	ANK3	Ssm	167	440	38%	cbioportal
15	CSMD3	Ssm	164	440	37.3%	cbioportal
16	RP1	Ssm	163	440	37%	cbioportal
17	XIRP2	Ssm	160	440	36.4%	cbioportal
18	HYDIN	Ssm	159	440	36.1%	cbioportal
19	THSD7B	Ssm	157	440	35.7%	cbioportal
20	DNAH9	Ssm	156	440	35.5%	cbioportal
21	USH2A	Ssm	156	440	35.5%	cbioportal
22	DNAH8	Ssm	154	440	35%	cbioportal
23	DSCAM	Ssm	151	440	34.3%	cbioportal
25	SYNE1	Ssm	150	440	34.1%	cbioportal
24	FLG	Ssm	150	440	34.1%	cbioportal
26	APOB	Ssm	146	440	33.2%	cbioportal
27	ZFHX4	Ssm	146	440	33.2%	cbioportal
28	RYR1	Ssm	145	440	33%	cbioportal
30	MXRA5	Ssm	143	440	32.5%	cbioportal
29	DNAH3	Ssm	143	440	32.5%	cbioportal

Data updated 22 days agoSource updated 2026-06-04

Skin Cutaneous Melanoma (Yale, Nat Genet 2012) skcm_yaleYale

147 cases with simple somatic mutation data · 147 cases total · 2026-01-13 · mapped to Cutaneous Melanoma EXACT_IDENTIFIER

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

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	BRAF	Ssm	34	147	23.1%	cbioportal
2	DNAH5	Ssm	32	147	21.8%	cbioportal
3	LRP1B	Ssm	26	147	17.7%	cbioportal
4	ANK3	Ssm	24	147	16.3%	cbioportal
5	DCC	Ssm	23	147	15.6%	cbioportal
6	CSMD2	Ssm	22	147	15%	cbioportal
7	DNAH8	Ssm	22	147	15%	cbioportal
8	PTPRD	Ssm	22	147	15%	cbioportal
9	USH2A	Ssm	22	147	15%	cbioportal
10	COL22A1	Ssm	21	147	14.3%	cbioportal
11	COL4A5	Ssm	21	147	14.3%	cbioportal
13	LRP2	Ssm	20	147	13.6%	cbioportal
12	DNAH3	Ssm	20	147	13.6%	cbioportal
14	COL3A1	Ssm	19	147	12.9%	cbioportal
15	COL5A1	Ssm	19	147	12.9%	cbioportal
16	CSMD3	Ssm	19	147	12.9%	cbioportal
17	DNAH9	Ssm	19	147	12.9%	cbioportal
18	MUC17	Ssm	19	147	12.9%	cbioportal
19	NRAS	Ssm	19	147	12.9%	cbioportal
21	SCN10A	Ssm	19	147	12.9%	cbioportal
20	RELN	Ssm	19	147	12.9%	cbioportal
22	TTN	Ssm	19	147	12.9%	cbioportal
23	APOB	Ssm	18	147	12.2%	cbioportal
25	VWF	Ssm	18	147	12.2%	cbioportal
24	C6	Ssm	18	147	12.2%	cbioportal
30	SPHKAP	Ssm	17	147	11.6%	cbioportal
28	COL14A1	Ssm	17	147	11.6%	cbioportal
29	ERICH3	Ssm	17	147	11.6%	cbioportal
26	ADAMTS20	Ssm	17	147	11.6%	cbioportal
27	CD163	Ssm	17	147	11.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Uveal Melanoma TCGA-UVMTCGA

80 cases with simple somatic mutation data · 80 cases total · Data Release 46.0 · mapped to Uveal Melanoma ONTOLOGY_EXACT

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

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	CCN4	Ssm	62	80	77.5%	gdc
2	SLC45A4	Ssm	61	80	76.3%	gdc
23	TRIB1	Ssm	60	80	75%	gdc
25	ASAP1	Ssm	60	80	75%	gdc
26	SLC30A8	Ssm	60	80	75%	gdc
27	HAS2	Ssm	60	80	75%	gdc
28	DERL1	Ssm	60	80	75%	gdc
29	NSMCE2	Ssm	60	80	75%	gdc
30	EIF3H	Ssm	60	80	75%	gdc
24	PHF20L1	Ssm	60	80	75%	gdc
3	GRHL2	Ssm	60	80	75%	gdc
4	NDRG1	Ssm	60	80	75%	gdc
5	AGO2	Ssm	60	80	75%	gdc
6	MTBP	Ssm	60	80	75%	gdc
7	DEPTOR	Ssm	60	80	75%	gdc
8	EFR3A	Ssm	60	80	75%	gdc
9	COL22A1	Ssm	60	80	75%	gdc
10	KHDRBS3	Ssm	60	80	75%	gdc
11	TNFRSF11B	Ssm	60	80	75%	gdc
12	KCNK9	Ssm	60	80	75%	gdc
13	RAD21	Ssm	60	80	75%	gdc
14	FAM91A1	Ssm	60	80	75%	gdc
15	MYC	Ssm	60	80	75%	gdc
16	NTAQ1	Ssm	60	80	75%	gdc
17	POU5F1B	Ssm	60	80	75%	gdc
18	EXT1	Ssm	60	80	75%	gdc
19	GSDMC	Ssm	60	80	75%	gdc
20	TRAPPC9	Ssm	60	80	75%	gdc
21	AC138647.1	Ssm	60	80	75%	gdc
22	ADCY8	Ssm	60	80	75%	gdc

Data updated 22 days agoSource updated Data Release 46.0

Uveal Melanoma (QIMR, Oncotarget 2016) um_qimr_2016QIMR

26 cases with simple somatic mutation data · 28 cases total · 2026-01-16 · mapped to Uveal Melanoma EXACT_IDENTIFIER

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

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	GNA11	Ssm	15	26	57.7%	cbioportal
2	BAP1	Ssm	11	26	42.3%	cbioportal
3	GNAQ	Ssm	8	26	30.8%	cbioportal
4	EIF1AX	Ssm	4	26	15.4%	cbioportal
5	SF3B1	Ssm	3	26	11.5%	cbioportal
9	TTN	Ssm	2	26	7.7%	cbioportal
8	TCHH	Ssm	2	26	7.7%	cbioportal
7	PLCB4	Ssm	2	26	7.7%	cbioportal
6	LLGL1	Ssm	2	26	7.7%	cbioportal
18	AGAP3	Ssm	1	26	3.8%	cbioportal
19	AKAP1	Ssm	1	26	3.8%	cbioportal
20	AMBRA1	Ssm	1	26	3.8%	cbioportal
21	ANXA4	Ssm	1	26	3.8%	cbioportal
22	APBB1	Ssm	1	26	3.8%	cbioportal
23	APOA4	Ssm	1	26	3.8%	cbioportal
24	ARAP3	Ssm	1	26	3.8%	cbioportal
25	ARHGAP32	Ssm	1	26	3.8%	cbioportal
26	ARVCF	Ssm	1	26	3.8%	cbioportal
27	ASIC1	Ssm	1	26	3.8%	cbioportal
29	AXIN1	Ssm	1	26	3.8%	cbioportal
30	BLTP1	Ssm	1	26	3.8%	cbioportal
28	ASIC2	Ssm	1	26	3.8%	cbioportal
10	A2ML1	Ssm	1	26	3.8%	cbioportal
11	AANAT	Ssm	1	26	3.8%	cbioportal
12	ABCB9	Ssm	1	26	3.8%	cbioportal
13	ACACB	Ssm	1	26	3.8%	cbioportal
14	ADAM18	Ssm	1	26	3.8%	cbioportal
15	ADAM8	Ssm	1	26	3.8%	cbioportal
16	ADAMTS18	Ssm	1	26	3.8%	cbioportal
17	ADAMTS9	Ssm	1	26	3.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Uveal Melanoma (TCGA, Firehose Legacy) uvm_tcgaTCGA

80 cases with simple somatic mutation data · 80 cases total · 2026-01-13 · mapped to Uveal Melanoma EXACT_IDENTIFIER

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

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	GNAQ	Ssm	40	80	50%	cbioportal
2	GNA11	Ssm	36	80	45%	cbioportal
3	BAP1	Ssm	26	80	32.5%	cbioportal
4	SF3B1	Ssm	18	80	22.5%	cbioportal
5	EIF1AX	Ssm	10	80	12.5%	cbioportal
6	MUC16	Ssm	5	80	6.3%	cbioportal
7	TTN	Ssm	5	80	6.3%	cbioportal
9	CSMD3	Ssm	3	80	3.8%	cbioportal
8	COL14A1	Ssm	3	80	3.8%	cbioportal
14	RYR2	Ssm	3	80	3.8%	cbioportal
15	SRSF2	Ssm	3	80	3.8%	cbioportal
13	PLCB2	Ssm	3	80	3.8%	cbioportal
12	PKHD1L1	Ssm	3	80	3.8%	cbioportal
11	MYOF	Ssm	3	80	3.8%	cbioportal
10	CYSLTR2	Ssm	3	80	3.8%	cbioportal
18	APC	Ssm	2	80	2.5%	cbioportal
16	ABR	Ssm	2	80	2.5%	cbioportal
17	ADAMTSL1	Ssm	2	80	2.5%	cbioportal
19	ARHGEF17	Ssm	2	80	2.5%	cbioportal
20	C3	Ssm	2	80	2.5%	cbioportal
21	CACNA1B	Ssm	2	80	2.5%	cbioportal
22	CACNA1D	Ssm	2	80	2.5%	cbioportal
23	CACNA2D1	Ssm	2	80	2.5%	cbioportal
24	CADM3	Ssm	2	80	2.5%	cbioportal
25	CCN4	Ssm	2	80	2.5%	cbioportal
26	CDH4	Ssm	2	80	2.5%	cbioportal
27	CEMIP2	Ssm	2	80	2.5%	cbioportal
28	CENPE	Ssm	2	80	2.5%	cbioportal
29	CEP131	Ssm	2	80	2.5%	cbioportal
30	CFAP52	Ssm	2	80	2.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Uveal Melanoma (TCGA GDC, 2025) um_tcga_gdcTCGA GDC

80 cases with simple somatic mutation data · 80 cases total · 2026-01-14 · mapped to Uveal Melanoma EXACT_IDENTIFIER

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

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	GNAQ	Ssm	39	80	48.8%	cbioportal
2	GNA11	Ssm	35	80	43.8%	cbioportal
3	SF3B1	Ssm	18	80	22.5%	cbioportal
4	BAP1	Ssm	16	80	20%	cbioportal
5	EIF1AX	Ssm	10	80	12.5%	cbioportal
6	TTN	Ssm	4	80	5%	cbioportal
10	MUC16	Ssm	3	80	3.8%	cbioportal
9	MACF1	Ssm	3	80	3.8%	cbioportal
8	CYSLTR2	Ssm	3	80	3.8%	cbioportal
7	COL14A1	Ssm	3	80	3.8%	cbioportal
12	PKHD1L1	Ssm	3	80	3.8%	cbioportal
13	SRSF2	Ssm	3	80	3.8%	cbioportal
11	MYOF	Ssm	3	80	3.8%	cbioportal
30	GLIS3	Ssm	2	80	2.5%	cbioportal
15	ARHGEF17	Ssm	2	80	2.5%	cbioportal
14	APC	Ssm	2	80	2.5%	cbioportal
17	CACNA1D	Ssm	2	80	2.5%	cbioportal
18	CCN4	Ssm	2	80	2.5%	cbioportal
19	CDH4	Ssm	2	80	2.5%	cbioportal
20	CENPE	Ssm	2	80	2.5%	cbioportal
21	CEP131	Ssm	2	80	2.5%	cbioportal
22	CFAP52	Ssm	2	80	2.5%	cbioportal
23	CSMD3	Ssm	2	80	2.5%	cbioportal
24	DEPDC5	Ssm	2	80	2.5%	cbioportal
25	DGKK	Ssm	2	80	2.5%	cbioportal
26	DNAH17	Ssm	2	80	2.5%	cbioportal
27	DSCAML1	Ssm	2	80	2.5%	cbioportal
28	EIF1B	Ssm	2	80	2.5%	cbioportal
29	EVC	Ssm	2	80	2.5%	cbioportal
16	C3	Ssm	2	80	2.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-14

Uveal Melanoma (TCGA, PanCancer Atlas) uvm_tcga_pan_can_atlas_2018TCGA

80 cases with simple somatic mutation data · 80 cases total · 2026-06-05 · mapped to Uveal Melanoma EXACT_IDENTIFIER

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

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	GNAQ	Ssm	40	80	50%	cbioportal
2	GNA11	Ssm	36	80	45%	cbioportal
3	SF3B1	Ssm	18	80	22.5%	cbioportal
4	BAP1	Ssm	13	80	16.3%	cbioportal
5	EIF1AX	Ssm	10	80	12.5%	cbioportal
6	MUC16	Ssm	4	80	5%	cbioportal
7	TTN	Ssm	4	80	5%	cbioportal
8	COL14A1	Ssm	3	80	3.8%	cbioportal
9	CSMD3	Ssm	3	80	3.8%	cbioportal
10	CYSLTR2	Ssm	3	80	3.8%	cbioportal
11	MACF1	Ssm	3	80	3.8%	cbioportal
12	MYOF	Ssm	3	80	3.8%	cbioportal
13	PKHD1L1	Ssm	3	80	3.8%	cbioportal
14	SRSF2	Ssm	3	80	3.8%	cbioportal
15	ADAMTSL1	Ssm	2	80	2.5%	cbioportal
16	APC	Ssm	2	80	2.5%	cbioportal
18	C3	Ssm	2	80	2.5%	cbioportal
17	ARHGEF17	Ssm	2	80	2.5%	cbioportal
19	CACNA1D	Ssm	2	80	2.5%	cbioportal
20	CCN4	Ssm	2	80	2.5%	cbioportal
21	CDH4	Ssm	2	80	2.5%	cbioportal
22	CEMIP2	Ssm	2	80	2.5%	cbioportal
23	CENPE	Ssm	2	80	2.5%	cbioportal
24	CEP131	Ssm	2	80	2.5%	cbioportal
25	CFAP52	Ssm	2	80	2.5%	cbioportal
26	CNTN5	Ssm	2	80	2.5%	cbioportal
27	COL9A2	Ssm	2	80	2.5%	cbioportal
28	DEPDC5	Ssm	2	80	2.5%	cbioportal
29	DNAH17	Ssm	2	80	2.5%	cbioportal
30	DSCAML1	Ssm	2	80	2.5%	cbioportal

Data updated 22 days agoSource updated 2026-06-05