BRSS
MCID: BRK001
MIFTS: 55

Brooke-Spiegler Syndrome (BRSS)

Categories: Cancer diseases, Endocrine diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Brooke-Spiegler Syndrome

MalaCards integrated aliases for Brooke-Spiegler Syndrome:

Name: Brooke-Spiegler Syndrome 57 12 53 25 59 74 37 15 72
Spiegler-Brooke Syndrome 57 53 25 74 29 13 6 40
Brss 57 53 25 74
Sbs 57 53 74
Bss 57 25 74
Ancell-Spiegler Cylindromas 53 72
Spiegler-Brooke Syndrome; Sbs 57
Carcinoma, Skin Appendage 44
Eccrine Dermal Cylindroma 72
Skin Appendage Carcinoma 17
Schilbach-Rott Syndrome 72
Cyld Cutaneous Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
brooke-spiegler syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in early adulthood
allelic disorder to multiple familial trichoepithelioma 1 (mft1, ) and familial cylindromatosis (fc, )


HPO:

32
brooke-spiegler syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0050693
OMIM 57 605041
KEGG 37 H00827
MeSH 44 D018280
MESH via Orphanet 45 C536611
UMLS via Orphanet 73 C1857941
Orphanet 59 ORPHA79493
MedGen 42 C1857941
UMLS 72 C1305968 C1834038 C1851526 more

Summaries for Brooke-Spiegler Syndrome

Genetics Home Reference : 25 Brooke-Spiegler syndrome is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as sweat glands and hair follicles. People with Brooke-Spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, and cylindromas. Spiradenomas develop in sweat glands. Trichoepitheliomas arise from hair follicles. The origin of cylindromas has been unclear; while previously thought to derive from sweat glands, they are now generally believed to begin in hair follicles. The tumors associated with Brooke-Spiegler syndrome are generally noncancerous (benign), but occasionally they may become cancerous (malignant). Affected individuals are also at increased risk of developing tumors in tissues other than skin appendages, particularly benign or malignant tumors of the salivary glands. People with Brooke-Spiegler syndrome typically begin developing tumors in early adulthood. The tumors are most often found on the head and neck. They grow larger and increase in number over time. In severe cases, the tumors may get in the way of the eyes, ears, nose, or mouth and affect vision, hearing, or other functions. The tumors can be disfiguring and may contribute to depression or other psychological problems. For reasons that are unclear, females with Brooke-Spiegler syndrome are often more severely affected than males.

MalaCards based summary : Brooke-Spiegler Syndrome, also known as spiegler-brooke syndrome, is related to spiradenoma and basal cell carcinoma. An important gene associated with Brooke-Spiegler Syndrome is CYLD (CYLD Lysine 63 Deubiquitinase), and among its related pathways/superpathways are RIG-I-like receptor signaling pathway and Wnt / Hedgehog / Notch. The drugs Talimogene laherparepvec and nivolumab have been mentioned in the context of this disorder. Affiliated tissues include skin, salivary gland and eye, and related phenotypes are neoplasm and milia

Disease Ontology : 12 An autosomal dominant disease that is characterized by the development of several types of tumors from the skin, has material basis in heterozygous mutation in the CYLD gene on chromosome 16q12.

NIH Rare Diseases : 53 Brooke-Spiegler syndrome is a condition characterized by multiple skin tumors that develop from structures associated with the skin, such as sweat glands and hair follicles. People with Brooke-Spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, and cylindromas. The tumors associated with Brooke-Spiegler syndrome are generally benign (noncancerous), but occasionally they may become malignant (cancerous). Individuals with Brooke-Spiegler syndrome are also at increased risk of developing tumors in tissues in other areas, particularly benign or malignant tumors of the salivary or parotid glands and basal cell carcinomas. Brooke-Spiegler syndrome is caused by mutations in the CYLD gene. Susceptibility to Brooke-Spiegler syndrome has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder.

OMIM : 57 Brooke-Spiegler syndrome is an autosomal dominant disorder classically characterized by the appearance of multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. These tumors are typically located in the head and neck region, appear in early adulthood, and gradually increase in size and number throughout life (Scheinfeld et al., 2003). Because BRSS, familial cylindromatosis, and MFT1 are allelic, and because different manifestations of each have been described within a single family, many consider these disorders to represent a phenotypic spectrum of a single disease entity (Gerretsen et al., 1995; Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008). Blake and Toro (2009) provided a review of Brooke-Spiegler syndrome and pathogenic mutations in the CYLD gene. (605041)

KEGG : 37
Brooke-Spiegler syndrome is an inherited disease characterized by multiple tumors of tissues derived from folliculo-sebaceous-apocrine unit, including cylindromas, trichoepitheliomas, and/or spiradenomas. It is an autosomal dominant condition.

UniProtKB/Swiss-Prot : 74 Brooke-Spiegler syndrome: An autosomal dominant disorder characterized by the appearance of multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. These tumors are typically located in the head and neck region, appear in early adulthood, and gradually increase in size and number throughout life.

Wikipedia : 75 Multiple familial trichoepithelioma is a cutaneous condition characterized by multiple cystic and solid... more...

Related Diseases for Brooke-Spiegler Syndrome

Diseases related to Brooke-Spiegler Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 235, show less)
# Related Disease Score Top Affiliating Genes
1 spiradenoma 31.5 KRT14 CYLD
2 basal cell carcinoma 30.0 PTCH1 KRT8 CYLD
3 bernard-soulier syndrome 12.2
4 barber-say syndrome 12.0
5 multiple familial trichoepithelioma 12.0
6 cylindromatosis, familial 11.9
7 short bowel syndrome 11.8
8 sick building syndrome 11.7
9 basal cell carcinoma 1 11.6
10 schilbach-rott syndrome 11.6
11 camptocormism 11.6
12 neural tube defects 11.6
13 shaken baby syndrome 11.5
14 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 11.5
15 brown-sequard syndrome 11.4
16 cowden syndrome 1 11.2
17 congenital short bowel syndrome 11.2
18 trichoepithelioma, multiple familial, 1 10.6
19 adenoid cystic carcinoma 10.6
20 adenoma 10.6
21 erythrokeratoderma ''en cocardes'' 10.6
22 rare genetic skin disease 10.6
23 malignant cylindroma 10.5
24 rapidly involuting congenital hemangioma 10.5
25 kala-azar 1 10.3
26 leishmaniasis 10.3
27 neurofibromatosis, type iv, of riccardi 10.3
28 pulmonary disease, chronic obstructive 10.3
29 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
30 telangiectasis 10.3
31 syringoma 10.3
32 ovarian brenner tumor 10.3
33 skin disease 10.3
34 spindle cell carcinoma 10.3
35 spindle cell sarcoma 10.3
36 pustulosis of palm and sole 10.3
37 psoriasis 10.3
38 48,xyyy 10.3
39 posttransplant acute limbic encephalitis 10.3
40 rare tumor 10.3
41 ige responsiveness, atopic 10.3
42 endophthalmitis 10.2
43 cataract 10.2
44 cerebral artery occlusion 10.2
45 schistosoma mansoni infection, susceptibility/ 10.2
46 triiodothyronine receptor auxiliary protein 10.2
47 bone resorption disease 10.2
48 schistosomiasis 10.2
49 kidney disease 10.2
50 back pain 10.2
51 proteasome-associated autoinflammatory syndrome 1 10.1
52 intestinal schistosomiasis 10.1
53 degenerative disc disease 10.1
54 hypereosinophilic syndrome 10.1
55 retinal detachment 10.1
56 glaucoma-related pigment dispersion syndrome 10.1
57 major affective disorder 8 10.1
58 major affective disorder 9 10.1
59 helix syndrome 10.1
60 common cold 10.1
61 focal epilepsy 10.1
62 pulmonary tuberculosis 10.1
63 early myoclonic encephalopathy 10.1
64 bipolar disorder 10.1
65 lymphopenia 10.1
66 epilepsy with generalized tonic-clonic seizures 10.1
67 rare surgical neurologic disease 10.1
68 pulmonary hypertension 10.1
69 rhinitis 10.1
70 carotid artery occlusion 10.1
71 herpes simplex 10.1
72 visceral leishmaniasis 10.1
73 haemophilus influenzae 10.1
74 brain injury 10.1
75 overgrowth syndrome 10.1
76 osteogenic sarcoma 10.0
77 sudden infant death syndrome 10.0
78 gallbladder disease 1 10.0
79 asthma 10.0
80 allergic rhinitis 10.0
81 bile acid malabsorption, primary 10.0
82 auditory neuropathy and optic atrophy 10.0
83 cholelithiasis 10.0
84 chlamydia 10.0
85 dementia 10.0
86 diarrhea 10.0
87 typhoid fever 10.0
88 toxic shock syndrome 10.0
89 acute kidney failure 10.0
90 pancreatic ductal adenocarcinoma 10.0
91 pseudohypoaldosteronism 10.0
92 multiple chemical sensitivity 10.0
93 active peptic ulcer disease 10.0
94 cytokine deficiency 10.0
95 dysphagia 10.0
96 hypoxia 10.0
97 traumatic brain injury 10.0
98 obsolete: ehlers-danlos syndrome, fibronectinemic type 10.0
99 pik3ca-related overgrowth syndrome 10.0
100 polyploidy 10.0
101 pigmented basal cell carcinoma 10.0 PTCH1 KRT14
102 sweat gland disease 9.9 KRT14 CYLD
103 tonsil cancer 9.9 KRT14 CYLD
104 atrial standstill 1 9.8
105 bladder cancer 9.8
106 colorectal cancer 9.8
107 hepatocellular carcinoma 9.8
108 multiple sclerosis 9.8
109 esophageal cancer 9.8
110 hair whorl 9.8
111 renal cell carcinoma, nonpapillary 9.8
112 osteoporosis 9.8
113 ovarian cancer 9.8
114 polykaryocytosis inducer 9.8
115 scoliosis, isolated 1 9.8
116 varicose veins 9.8
117 cerebellar hypoplasia 9.8
118 hutterite cerebroosteonephrodysplasia syndrome 9.8
119 methane production 9.8
120 ocular motor apraxia 9.8
121 pancreatic cancer 9.8
122 peeling skin syndrome 1 9.8
123 aging 9.8
124 prostatic hyperplasia, benign 9.8
125 macular degeneration, age-related, 1 9.8
126 polydactyly 9.8
127 ventricular fibrillation, paroxysmal familial, 1 9.8
128 orthostatic intolerance 9.8
129 temtamy preaxial brachydactyly syndrome 9.8
130 anxiety 9.8
131 aplastic anemia 9.8
132 bone mineral density quantitative trait locus 8 9.8
133 leukemia, acute lymphoblastic 9.8
134 bone mineral density quantitative trait locus 15 9.8
135 graft-versus-host disease 9.8
136 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.8
137 pulmonary hypertension, primary, 4 9.8
138 bardet-biedl syndrome 16 9.8
139 deficiency anemia 9.8
140 chlamydia pneumonia 9.8
141 inflammatory bowel disease 9.8
142 metabolic acidosis 9.8
143 chronic venous insufficiency 9.8
144 colitis 9.8
145 scoliosis 9.8
146 idiopathic scoliosis 9.8
147 pollen allergy 9.8
148 thrombosis 9.8
149 non-alcoholic fatty liver disease 9.8
150 venous insufficiency 9.8
151 thalassemia 9.8
152 lymphocytic leukemia 9.8
153 pleural tuberculosis 9.8
154 kuhnt-junius degeneration 9.8
155 dissociative disorder 9.8
156 prostatic hypertrophy 9.8
157 visual epilepsy 9.8
158 coronary thrombosis 9.8
159 low compliance bladder 9.8
160 nephronophthisis 9.8
161 megaesophagus 9.8
162 cholestasis 9.8
163 pleural disease 9.8
164 squamous cell carcinoma 9.8
165 bardet-biedl syndrome 9.8
166 thrombocytosis 9.8
167 benign mesothelioma 9.8
168 dermatitis 9.8
169 idiopathic interstitial pneumonia 9.8
170 prostatic adenoma 9.8
171 substance abuse 9.8
172 churg-strauss syndrome 9.8
173 complex regional pain syndrome 9.8
174 ischemia 9.8
175 mood disorder 9.8
176 purpura 9.8
177 pulmonary fibrosis 9.8
178 liver disease 9.8
179 ulnar neuropathy 9.8
180 congestive heart failure 9.8
181 bronchitis 9.8
182 fibromyalgia 9.8
183 spinal stenosis 9.8
184 malignant pleural mesothelioma 9.8
185 end stage renal failure 9.8
186 chronic kidney disease 9.8
187 mediastinitis 9.8
188 peritonitis 9.8
189 retinal degeneration 9.8
190 influenza 9.8
191 arthritis 9.8
192 lung disease 9.8
193 chronic fatigue syndrome 9.8
194 chickenpox 9.8
195 eating disorder 9.8
196 neuropathy 9.8
197 learning disability 9.8
198 cutaneous leishmaniasis 9.8
199 mucocutaneous leishmaniasis 9.8
200 achalasia 9.8
201 diabetes mellitus 9.8
202 allergic asthma 9.8
203 fatty liver disease 9.8
204 47,xyy 9.8
205 hypertrophic cardiomyopathy 9.8
206 acute respiratory distress syndrome 9.8
207 allergic angiitis 9.8
208 bronchopulmonary dysplasia 9.8
209 eosinophilic granulomatosis with polyangiitis 9.8
210 idiopathic achalasia 9.8
211 ring chromosome 13 9.8
212 headache 9.8
213 seizure disorder 9.8
214 spinal cord injury 9.8
215 tremor 9.8
216 obsolete: atypical teratoid/rhabdoid tumor 9.8
217 virus-associated trichodysplasia spinulosa 9.8
218 motor stereotypies 9.8
219 serotonin syndrome 9.8
220 coronary ostial stenosis or atresia 9.8
221 calcifying epithelial odontogenic tumor 9.8 PTCH1 KRT8
222 odontoma 9.7 KRT8 KRT14
223 cervical clear cell adenocarcinoma 9.6 KRT8 KRT14
224 pregnancy adenoma 9.6 KRT8 KRT14
225 basaloid squamous cell carcinoma 9.6 KRT8 KRT14
226 intraneural perineurioma 9.6 KRT8 KRT14
227 breast fibroadenoma 9.5 KRT8 KRT14
228 primary cutaneous amyloidosis 9.5 KRT8 KRT14
229 sweat gland cancer 9.5 KRT8 KRT14
230 craniopharyngioma 9.4 KRT8 KRT14
231 ductal carcinoma in situ 9.4 KRT8 KRT14
232 melanoma, uveal 9.4 KRT8 BAP1
233 apocrine sweat gland neoplasm 9.3 KRT8 KRT14 CYLD
234 ameloblastoma 9.2 PTCH1 KRT8 KRT14
235 papilloma 9.1 KRT8 KRT14

Graphical network of the top 20 diseases related to Brooke-Spiegler Syndrome:



Diseases related to Brooke-Spiegler Syndrome

Symptoms & Phenotypes for Brooke-Spiegler Syndrome

Human phenotypes related to Brooke-Spiegler Syndrome:

32 (showing 2, show less)
# Description HPO Frequency HPO Source Accession
1 neoplasm 32 HP:0002664
2 milia 32 HP:0001056

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
milia
cylindromas, multiple (usually occur on the scalp, but may also occur on the face, trunk, and extremities)
trichoepitheliomas, multiple (usually occur in the nasolabial folds, nose, or face)
spiradenomas

Neoplasia:
skin appendage tumors may show malignant transformation
parotid gland adenoma and adenocarcinoma

Clinical features from OMIM:

605041

MGI Mouse Phenotypes related to Brooke-Spiegler Syndrome:

46 (showing 12, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.91 BAP1 CYLD KRT14 KRT8 PTCH1
2 growth/size/body region MP:0005378 9.88 BAP1 CYLD KRT14 KRT8 PTCH1
3 hematopoietic system MP:0005397 9.83 BAP1 CYLD KRT14 KRT8 PTCH1
4 endocrine/exocrine gland MP:0005379 9.8 BAP1 CYLD KRT14 PTCH1
5 homeostasis/metabolism MP:0005376 9.8 BAP1 CYLD KRT14 KRT8 PTCH1
6 immune system MP:0005387 9.77 BAP1 CYLD KRT14 KRT8 PTCH1
7 mortality/aging MP:0010768 9.65 BAP1 CYLD KRT14 KRT8 PTCH1
8 hearing/vestibular/ear MP:0005377 9.63 KRT14 KRT8 PTCH1
9 integument MP:0010771 9.62 BAP1 CYLD KRT14 PTCH1
10 neoplasm MP:0002006 9.46 BAP1 CYLD KRT14 PTCH1
11 reproductive system MP:0005389 9.26 BAP1 KRT14 KRT8 PTCH1
12 respiratory system MP:0005388 8.92 BAP1 CYLD KRT14 PTCH1

Drugs & Therapeutics for Brooke-Spiegler Syndrome

Drugs for Brooke-Spiegler Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 3, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Talimogene laherparepvec Approved, Experimental, Investigational Phase 2 1187560-31-1
2
nivolumab Approved Phase 2 946414-94-4
3 Antineoplastic Agents, Immunological Phase 2

Interventional clinical trials:

(showing 1, show less)
# Name Status NCT ID Phase Drugs
1 A Phase II Study of Talimogene Laherparepvec Followed by Talimogene Laherparepvec + Nivolumab in Refractory T Cell and NK Cell Lymphomas, Cutaneous Squamous Cell Carcinoma, Merkel Cell Carcinoma, and Other Rare Skin Tumors Suspended NCT02978625 Phase 2

Search NIH Clinical Center for Brooke-Spiegler Syndrome

Cochrane evidence based reviews: carcinoma, skin appendage

Genetic Tests for Brooke-Spiegler Syndrome

Genetic tests related to Brooke-Spiegler Syndrome:

# Genetic test Affiliating Genes
1 Spiegler-Brooke Syndrome 29 CYLD

Anatomical Context for Brooke-Spiegler Syndrome

MalaCards organs/tissues related to Brooke-Spiegler Syndrome:

41
Skin, Salivary Gland, Eye, T Cells, Nk Cells, Lymph Node, Smooth Muscle

Publications for Brooke-Spiegler Syndrome

Articles related to Brooke-Spiegler Syndrome:

(showing 141, show less)
# Title Authors PMID Year
1
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. 38 8 71
16922728 2006
2
Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. 38 8 71
15854031 2005
3
A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome. 38 8 71
14632188 2003
4
Identification of a recurrent mutation in the CYLD gene in Brooke-Spiegler syndrome. 38 8 71
12950348 2003
5
Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages. 38 8 71
12190880 2002
6
Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas. 8 71
19807742 2009
7
Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling. 38 8
19462465 2009
8
CYLD mutations in familial skin appendage tumours. 38 8
18234730 2008
9
Genetics of skin appendage neoplasms and related syndromes. 38 8
16272260 2005
10
Brooke-Spiegler syndrome locus assigned to 16q12-q13. 38 8
10792569 2000
11
Brooke-Spiegler syndrome variant: segregation of tumor types with mixed differentiation in two generations. 38 8
9504671 1998
12
A nevoid plaque with histological changes of trichoepithelioma and cylindroma in Brooke-Spiegler syndrome. An immunohistochemical study with cytokeratins. 38 8
8835176 1995
13
Spiradenomas in Brooke-Spiegler syndrome. 38 8
7684205 1993
14
Two novel CYLD gene mutations in Chinese families with trichoepithelioma and a literature review of 16 families with trichoepithelioma reported in China. 71
16307661 2005
15
Identification of the familial cylindromatosis tumour-suppressor gene. 71
10835629 2000
16
Familial cutaneous cylindromas: investigations in five generations of a family. 8
7622645 1995
17
Familial occurrence of malignant lymphoepithelial lesion of the parotid gland in a Finnish family with dominantly inherited trichoepithelioma. 8
3275484 1988
18
Familial clustering of salivary gland carcinoma in Greenland. 8
3955517 1986
19
[On the nosology of Spiegler-Brookes tumors]. 8
13709529 1961
20
Brooke-Spiegler Syndrome: Two Patients From a Turkish Family With Multiple Familial Trichoepithelioma. 38
30252697 2019
21
[Cylindromas-rare but striking]. 38
31428801 2019
22
Brooke-Spiegler syndrome with chronic obstructive pulmonary disease and chronic sinusitis. 38
30628115 2019
23
Trichoblastic carcinoma arising in trichoepithelioma in Brooke-Spiegler syndrome. 38
30971565 2019
24
Clinical, genetic and experimental studies of the Brooke-Spiegler (CYLD) skin tumor syndrome. 38
30676842 2019
25
p63 and smooth muscle actin expression in low-grade spiradenocarcinomas in a case of CYLD cutaneous syndrome. 38
29962004 2018
26
A trichogenic tumor with aggressive features initially diagnosed as basal cell carcinoma. 38
30677834 2018
27
Phenotype variability in tumor disorders of the skin appendages associated with mutations in the CYLD gene. 38
29974194 2018
28
CYLD mutations differentially affect splicing and mRNA decay in Brooke-Spiegler syndrome. 38
29478249 2018
29
Turban Tumor: A Classical Presentation of Brooke-Spiegler Syndrome. 38
30050828 2018
30
[Turban tumour with intracranial invasion]. 38
29809129 2018
31
A rare case of Brooke-Spiegler syndrome: integrated surgical treatment of multiple giant eccrine spiradenomas of the head and neck in a young girl. 38
30241087 2018
32
Brooke-Spiegler Syndrome. 38
30093932 2018
33
Brooke-Spiegler syndrome: focus on reflectance confocal microscopy findings of trichoepithelioma and flat cylindroma. 38
28976013 2017
34
Sporadic Trichoblastomas and Those Occurring in the Setting of Multiple Familial Trichoepithelioma/Brooke-Spiegler Syndrome Show No BAP1 Loss. 38
28098597 2017
35
A Simple and Effective Method for Treating Cylindromas in Brooke-Spiegler Syndrome. 38
28388989 2017
36
An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region. 38
28110467 2017
37
Heterozygous Cylindromatosis Gene Mutation c.1628_1629delCT in a Family with Brook-Spiegler Syndrome. 38
27688459 2016
38
Cutaneous cylindroma: it's all about MYB. 38
27185061 2016
39
Overexpression of MYB drives proliferation of CYLD-defective cylindroma cells. 38
26969893 2016
40
Brooke-Spiegler Syndrome and Phenotypic Variants: An Update. 38
26971504 2016
41
Eccrine cylindroma of the face and scalp. 38
27294061 2016
42
A case of Brooke-Spiegler syndrome with a novel mutation in the CYLD gene in a patient with aggressive non-Hodgkin's lymphoma. 38
26660106 2016
43
The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene. 38
26861065 2016
44
Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation. 38
26329847 2016
45
A novel CYLD gene mutation and multiple basal cell carcinomas in a patient with Brooke-Spiegler syndrome. 38
25976026 2016
46
A rare case of eccrine spiradenoma-treatment and management. 38
27069311 2016
47
Brooke-Spiegler Syndrome - an underrecognized cause of multiple familial scalp tumors: report of a new germline mutation. 38
26512302 2015
48
Brooke-Spiegler syndrome presenting multiple concurrent cutaneous and parotid gland neoplasms: cytologic findings on fine-needle sample and description of a novel mutation of the CYLD gene. 38
25995191 2015
49
Basal Cell Carcinoma in a Patient With Brooke-Spiegler Syndrome. 38
26861436 2015
50
Phenotype-genotype correlations for clinical variants caused by CYLD mutations. 38
25782638 2015
51
Malignant cylindroma in a patient with Brooke-Spiegler syndrome. 38
26114054 2015
52
A novel CYLD germline mutation in Brooke-Spiegler syndrome. 38
25131725 2015
53
Cylindroma: an update. 38
25515269 2015
54
CYLD GeneticTesting for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas. 38
25737804 2015
55
Spiradenoma and cylindroma originate from the hair follicle bulge and not from the eccrine sweat gland: an immunohistochemical study with CD200 and other stem cell markers. 38
25354097 2015
56
Brooke-Spiegler syndrome clinically misdiagnosed as neurofibromatosis type 1. 38
25502717 2015
57
Enucleation of cylindromas in Brooke-Spiegler syndrome: a novel surgical technique. 38
25361203 2014
58
Large germline deletions of the CYLD gene in patients with Brooke-Spiegler syndrome and multiple familial trichoepithelioma. 38
25347032 2014
59
Late-onset Brooke-Spiegler syndrome with family histories of various cancers. 38
24628357 2014
60
[CO2 laser treatment of skin cylindromas in Brooke-Spiegler syndrome]. 38
24835647 2014
61
Atypical adnexal tumors adjacent to basal cell carcinoma: a difficult problem in patients with Brooke-Spiegler syndrome undergoing Mohs surgery. 38
24372646 2014
62
Brooke-Spiegler syndrome tumor spectrum beyond the skin: a patient carrying germline R936X CYLD mutation and a somatic CYLD mutation in Brenner tumor. 38
24559443 2014
63
A novel therapeutic strategy for turban tumor: scalp excision and combined reconstruction with artificial dermis and split skin graft. 38
24261462 2014
64
Brooke-spiegler syndrome: a rare entity. 38
24587929 2014
65
Syndrome in question. Brooke-Spiegler syndrome. 38
24626672 2014
66
Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma and eccrine spiradenoma. 38
24261740 2013
67
Cylindroma of head and neck: review of the literature and report of two rare cases. 38
23260808 2013
68
[Multiple familial trichoepithelioma: a new CYLD gene mutation]. 38
23567228 2013
69
A novel germline mutation in the CYLD gene in a Slovak patient with Brooke-Spiegler syndrome. 38
23641715 2013
70
Novel and recurrent germline and somatic mutations in a cohort of 67 patients from 48 families with Brooke-Spiegler syndrome including the phenotypic variant of multiple familial trichoepitheliomas and correlation with the histopathologic findings in 379 biopsy specimens. 38
23249834 2013
71
A clinicopathologic and molecular biologic study of patients presenting with few adnexal tumors (two to four) from the morphological spectrum of Brooke-Spiegler syndrome. 38
22588548 2013
72
A new Cylindromatosis (CYLD) gene mutation in a case of Brooke-Spiegler syndrome masquerading as basal cell carcinoma of the eyelids. 38
22689134 2013
73
Malign cylindroma of the scalp with multiple cervical lymph node metastasis-A case report. 38
23702364 2013
74
Brooke-Spiegler syndrome associated with ulcerative rectosigmoiditis. 38
22735777 2013
75
Brooke-Spiegler syndrome. 38
23286806 2012
76
Spiradenomas. 38
23286805 2012
77
A novel missense mutation of the CYLD gene identified in a Hungarian family with Brooke-Spiegler syndrome. 38
23171463 2012
78
Basal cell carcinoma arising in association with trichoepithelioma in a case of Brooke-Spiegler syndrome with a novel genetic mutation in CYLD. 38
22882113 2012
79
Radiofrequency ablation: a safe and economical modality in treatment of Brooke-Spiegler syndrome. 38
22948057 2012
80
Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes. 38
22077640 2012
81
Multiple facial cylindromas: a case report. 38
22398229 2012
82
Brooke-spiegler syndrome with multiple scalp cylindromas and bilateral parotid gland adenomas. 38
22606564 2012
83
Brooke-spiegler syndrome: a rare entity. 38
22628987 2012
84
Comparing ablative fractionated resurfacing, photodynamic therapy, and topical imiquimod in the treatment of trichoblastomas of Brooke-Spiegler Syndrome: a case study. 38
21388481 2011
85
Multiple (familial) trichoepitheliomas: a clinicopathological and molecular biological study, including CYLD and PTCH gene analysis, of a series of 16 patients. 38
21389835 2011
86
Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis. 38
20972631 2011
87
Down-regulation of CYLD as a trigger for NF-κB activation and a mechanism of apoptotic resistance in hepatocellular carcinoma cells. 38
21109933 2011
88
[Carbon dioxide-laser treatment of trichoepitheliomas in Brooke-Spiegler syndrome]. 38
21315872 2011
89
Brooke-Spiegler syndrome: report of a case with a novel mutation in the CYLD gene and different types of somatic mutations in benign and malignant tumors. 38
20132422 2010
90
Multiple trichoepitheliomas--a novel mutation in the CYLD gene. 38
19929939 2010
91
[Sudden growth of previously indolent scalp nodule]. 38
20490442 2010
92
Brooke-Spiegler syndrome: report of 10 patients from 8 families with novel germline mutations: evidence of diverse somatic mutations in the same patient regardless of tumor type. 38
20502185 2010
93
Expression of p53 and TP53 mutational analysis in malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma, sporadic or associated with Brooke-Spiegler syndrome. 38
20075707 2010
94
New mutation in the CYLD gene within a family with Brooke-Spiegler syndrome. 38
20151946 2010
95
Primary and metastatic malignant tumors of the scalp: an update. 38
20509718 2010
96
Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction. 38
19917957 2009
97
Skin type spiradenoma of the parotid gland with malignant transformation: report of a case with analysis of the CYLD gene. 38
19454360 2009
98
A case of Brooke-Spiegler syndrome with a novel germline deep intronic mutation in the CYLD gene leading to intronic exonization, diverse somatic mutations, and unusual histology. 38
19668078 2009
99
Adenoid cystic carcinoma-like pattern in spiradenoma and spiradenocylindroma: a rare feature in sporadic neoplasms and those associated with Brooke-Spiegler syndrome. 38
19633533 2009
100
[Do you know this syndrome?]. 38
20098863 2009
101
Dermoscopy of Brooke-Spiegler syndrome. 38
19620580 2009
102
Morphologic diversity of malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma based on the study of 24 cases, sporadic or occurring in the setting of Brooke-Spiegler syndrome. 38
19194280 2009
103
Familial cylindromatosis and brooke-spiegler syndrome: a review of current therapeutic approaches and the surgical challenges posed by two affected families. 38
19397670 2009
104
Treatment of cutaneous tumors with topical 5% imiquimod cream. 38
19841702 2009
105
Brooke-Spiegler syndrome with associated pegged teeth. 38
19090338 2008
106
Brooke-Spiegler syndrome. 38
19171990 2008
107
Brooke-Spiegler syndrome complicated by unilateral hearing loss. 38
18986490 2008
108
Trichoepithelioma. 38
19061604 2008
109
Brooke-Spiegler syndrome: report of a case of multiple cylindromas and trichoepitheliomas. 38
18718192 2008
110
Five new CYLD mutations in skin appendage tumors and evidence that aspartic acid 681 in CYLD is essential for deubiquitinase activity. 38
17851586 2008
111
Cylindroma transforming into basal cell carcinoma in a patient with Brooke-Spiegler syndrome. 38
21886698 2007
112
Brooke-Spiegler syndrome - report of four families: treatment with CO2 laser. 38
17550556 2007
113
Benign cylindroma causing transcalvarial invasion in a patient with familial cylindromatosis. 38
19157004 2007
114
Brooke-Spiegler syndrome. 38
17511943 2007
115
[Brooke-Spiegler syndrome: an heterogeneous entity]. 38
17173833 2006
116
Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene. 38
17083363 2006
117
[Brooke-Spiegler syndrome]. 38
17263207 2006
118
A case of Brooke-Spiegler syndrome with a new mutation in the CYLD gene. 38
16634909 2006
119
Brooke-Spiegler syndrome: treatment with laser ablation. 38
15953067 2005
120
Psoriasis and Brooke-Spiegler syndrome with multiple malignancies. 38
15857473 2005
121
Brooke-Spiegler syndrome: report of a case with combined lesions containing cylindromatous, spiradenomatous, trichoblastomatous, and sebaceous differentiation. 38
15677973 2005
122
Carcinosarcoma arising in a patient with multiple cylindromas. 38
15677972 2005
123
High-grade trichoblastic carcinoma arising in trichoblastoma: a rare adnexal neoplasm often showing metastatic spread. 38
15677970 2005
124
Case of the Brooke-Spiegler syndrome. 38
15527432 2004
125
Cylindroma of the breast of skin adnexal type: a study of 4 cases. 38
15252315 2004
126
Brooke-Spiegler syndrome with parotid gland involvement. 38
15246936 2004
127
Case 3. Brooke-Spiegler syndrome. 38
15115535 2004
128
Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma, spiradenoma, and syringoma. 38
14739501 2004
129
Pedigree of multiple benign adnexal tumours of Brooke-Spiegler type. 38
12752191 2003
130
[Cylindrocarcinoma in a patient with Brooke-Spiegler syndrome]. 38
11967778 2002
131
[Cylindrospiradenomas in Brooke-Spiegler syndrome]. 38
11757456 2001
132
Malignant transformation of multiple dermal cylindromas. 38
11703297 2001
133
Ossified cylindroma in familial cylindromatosis (Brooke-Spiegler syndrome). 38
11493383 2001
134
Brooke-Spiegler syndrome. 38
11730050 2001
135
Brooke-Spiegler syndrome: treatment of cylindromas with CO2 laser. 38
10971563 2000
136
Malignant cylindroma in Brooke-Spiegler syndrome. 38
11096200 2000
137
Turban tumour with involvement of the parotid gland. 38
10748863 1999
138
[Brooke-Spiegler syndrome]. 38
10495861 1999
139
The clinicopathological features of familial cylindromas and trichoepitheliomas (Brooke-Spiegler syndrome): a report of two families. 38
1333921 1992
140
Multiple hereditary trichoepithelioma and cylindroma (Brooke-Spiegler syndrome). 38
1660416 1991
141
[Coincidence of multiple cylindroma and trichoepitheliomas (Brooke-Spiegler-Syndrome)]. 38
6282779 1982

Variations for Brooke-Spiegler Syndrome

ClinVar genetic disease variations for Brooke-Spiegler Syndrome:

6 (showing 93, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CYLD NM_015247.2(CYLD): c.968_977del (p.Ser323fs) deletion Pathogenic rs886040870 16:50810135-50810144 16:50776224-50776233
2 CYLD NM_015247.2(CYLD): c.1537dup (p.Cys513fs) duplication Pathogenic rs886040874 16:50815175-50815175 16:50781264-50781264
3 CYLD NM_015247.2(CYLD): c.1599dup (p.Val534fs) duplication Pathogenic rs886040875 16:50815237-50815237 16:50781326-50781326
4 CYLD NM_015247.2(CYLD): c.2108G> A (p.Arg703Lys) single nucleotide variant Pathogenic rs886040884 16:50821763-50821763 16:50787852-50787852
5 CYLD NM_015247.2(CYLD): c.2138_2139dup (p.Phe714fs) duplication Pathogenic rs886040885 16:50825498-50825499 16:50791587-50791588
6 CYLD CYLD, 1-BP DEL, 2253G deletion Pathogenic
7 CYLD CYLD, 1-BP DEL, 2172A deletion Pathogenic
8 CYLD NM_015247.2(CYLD): c.2240A> G (p.Glu747Gly) single nucleotide variant Pathogenic rs121908389 16:50825600-50825600 16:50791689-50791689
9 CYLD NM_015247.2(CYLD): c.2806C> T (p.Arg936Ter) single nucleotide variant Pathogenic rs121908390 16:50830354-50830354 16:50796443-50796443
10 CYLD CYLD, 1-BP DUP, 1392T duplication Pathogenic
11 CYLD NM_015247.2(CYLD): c.1503C> T (p.Leu501=) single nucleotide variant Uncertain significance rs752471076 16:50813940-50813940 16:50780029-50780029
12 CYLD NM_015247.2(CYLD): c.2342T> C (p.Leu781Pro) single nucleotide variant Uncertain significance rs886040889 16:50826608-50826608 16:50792697-50792697
13 CYLD NM_015247.2(CYLD): c.-161A> G single nucleotide variant Uncertain significance rs886052051 16:50778740-50778740 16:50744829-50744829
14 CYLD NM_015247.2(CYLD): c.-23A> C single nucleotide variant Uncertain significance rs771486432 16:50783587-50783587 16:50749676-50749676
15 CYLD NM_015247.2(CYLD): c.*1667G> T single nucleotide variant Uncertain significance rs750022206 16:50832086-50832086 16:50798175-50798175
16 CYLD NM_015247.2(CYLD): c.*1746C> T single nucleotide variant Uncertain significance rs886052057 16:50832165-50832165 16:50798254-50798254
17 CYLD NM_015247.2(CYLD): c.*1810A> T single nucleotide variant Uncertain significance rs886052058 16:50832229-50832229 16:50798318-50798318
18 CYLD NM_015247.2(CYLD): c.*2556A> G single nucleotide variant Uncertain significance rs747682326 16:50832975-50832975 16:50799064-50799064
19 CYLD NM_015247.2(CYLD): c.*2975C> T single nucleotide variant Uncertain significance rs886052062 16:50833394-50833394 16:50799483-50799483
20 CYLD NM_015247.2(CYLD): c.*3305A> G single nucleotide variant Uncertain significance rs886052065 16:50833724-50833724 16:50799813-50799813
21 CYLD NM_015247.2(CYLD): c.*1308A> G single nucleotide variant Uncertain significance rs886052054 16:50831727-50831727 16:50797816-50797816
22 CYLD NM_015247.2(CYLD): c.*4494G> A single nucleotide variant Uncertain significance rs546313281 16:50834913-50834913 16:50801002-50801002
23 CYLD NM_015247.2(CYLD): c.*4702C> T single nucleotide variant Uncertain significance rs886052070 16:50835121-50835121 16:50801210-50801210
24 CYLD NM_015247.2(CYLD): c.*4841G> A single nucleotide variant Uncertain significance rs886052071 16:50835260-50835260 16:50801349-50801349
25 CYLD NM_015247.2(CYLD): c.*5384A> G single nucleotide variant Uncertain significance rs886052072 16:50835803-50835803 16:50801892-50801892
26 CYLD NM_015247.2(CYLD): c.-366G> C single nucleotide variant Uncertain significance rs886052050 16:50776010-50776010 16:50742099-50742099
27 CYLD NM_015247.2(CYLD): c.*403T> C single nucleotide variant Uncertain significance rs886052052 16:50830822-50830822 16:50796911-50796911
28 CYLD NM_015247.2(CYLD): c.*1727T> C single nucleotide variant Uncertain significance rs886052056 16:50832146-50832146 16:50798235-50798235
29 CYLD NM_015247.2(CYLD): c.*2438G> A single nucleotide variant Uncertain significance rs886052061 16:50832857-50832857 16:50798946-50798946
30 CYLD NM_015247.2(CYLD): c.*3722T> G single nucleotide variant Uncertain significance rs886052067 16:50834141-50834141 16:50800230-50800230
31 CYLD NM_015247.2(CYLD): c.59T> G (p.Ile20Ser) single nucleotide variant Uncertain significance rs764097337 16:50783668-50783668 16:50749757-50749757
32 CYLD NM_015247.2(CYLD): c.2145T> C (p.Tyr715=) single nucleotide variant Uncertain significance rs200905032 16:50825505-50825505 16:50791594-50791594
33 CYLD NM_015247.2(CYLD): c.*468A> C single nucleotide variant Uncertain significance rs886052053 16:50830887-50830887 16:50796976-50796976
34 CYLD NM_015247.2(CYLD): c.*831C> T single nucleotide variant Uncertain significance rs144877731 16:50831250-50831250 16:50797339-50797339
35 CYLD NM_015247.2(CYLD): c.*1587dup duplication Uncertain significance rs886052055 16:50832006-50832006 16:50798095-50798095
36 CYLD NM_015247.2(CYLD): c.*4691A> G single nucleotide variant Uncertain significance rs886052069 16:50835110-50835110 16:50801199-50801199
37 CYLD NM_015247.2(CYLD): c.*3000C> G single nucleotide variant Uncertain significance rs886052063 16:50833419-50833419 16:50799508-50799508
38 CYLD NM_015247.2(CYLD): c.*3229C> T single nucleotide variant Uncertain significance rs752862278 16:50833648-50833648 16:50799737-50799737
39 CYLD NM_015247.2(CYLD): c.*3384G> A single nucleotide variant Uncertain significance rs886052066 16:50833803-50833803 16:50799892-50799892
40 CYLD NM_015247.2(CYLD): c.*4388C> T single nucleotide variant Uncertain significance rs781004605 16:50834807-50834807 16:50800896-50800896
41 CYLD NM_015247.2(CYLD): c.*4470C> A single nucleotide variant Uncertain significance rs755710819 16:50834889-50834889 16:50800978-50800978
42 CYLD NM_015247.2(CYLD): c.543C> T (p.Tyr181=) single nucleotide variant Uncertain significance rs752294416 16:50785553-50785553 16:50751642-50751642
43 CYLD NM_015247.2(CYLD): c.1166C> G (p.Thr389Arg) single nucleotide variant Uncertain significance rs200759332 16:50813603-50813603 16:50779692-50779692
44 CYLD NM_015247.2(CYLD): c.2465C> T (p.Thr822Ile) single nucleotide variant Uncertain significance rs775394735 16:50827571-50827571 16:50793660-50793660
45 CYLD NM_015247.2(CYLD): c.*1983T> C single nucleotide variant Uncertain significance rs867027657 16:50832402-50832402 16:50798491-50798491
46 CYLD NM_015247.2(CYLD): c.*2121_*2122del deletion Uncertain significance rs74757288 16:50832540-50832541 16:50798629-50798630
47 CYLD NM_015247.2(CYLD): c.*2856T> C single nucleotide variant Uncertain significance rs778856255 16:50833275-50833275 16:50799364-50799364
48 CYLD NM_015247.2(CYLD): c.*3119del deletion Uncertain significance rs149875014 16:50833538-50833538 16:50799627-50799627
49 CYLD NM_015247.2(CYLD): c.*3148T> C single nucleotide variant Uncertain significance rs555603514 16:50833567-50833567 16:50799656-50799656
50 CYLD NM_015247.2(CYLD): c.*4485G> C single nucleotide variant Uncertain significance rs886052068 16:50834904-50834904 16:50800993-50800993
51 CYLD NM_015247.2(CYLD): c.*4885A> T single nucleotide variant Likely benign rs184571054 16:50835304-50835304 16:50801393-50801393
52 CYLD NM_015247.2(CYLD): c.*3679T> C single nucleotide variant Likely benign rs141888517 16:50834098-50834098 16:50800187-50800187
53 CYLD NM_015247.2(CYLD): c.*2236C> T single nucleotide variant Likely benign rs57638820 16:50832655-50832655 16:50798744-50798744
54 CYLD NM_015247.2(CYLD): c.*2335T> C single nucleotide variant Likely benign rs9646285 16:50832754-50832754 16:50798843-50798843
55 CYLD NM_015247.2(CYLD): c.*2369G> A single nucleotide variant Likely benign rs16948829 16:50832788-50832788 16:50798877-50798877
56 CYLD NM_015247.2(CYLD): c.*2710C> T single nucleotide variant Likely benign rs141928186 16:50833129-50833129 16:50799218-50799218
57 CYLD NM_015247.2(CYLD): c.2319G> A (p.Leu773=) single nucleotide variant Likely benign rs199912760 16:50826585-50826585 16:50792674-50792674
58 CYLD NM_015247.2(CYLD): c.*382T> C single nucleotide variant Likely benign rs142580891 16:50830801-50830801 16:50796890-50796890
59 CYLD NM_015247.2(CYLD): c.*779G> A single nucleotide variant Likely benign rs190787930 16:50831198-50831198 16:50797287-50797287
60 CYLD NM_015247.2(CYLD): c.*1831G> A single nucleotide variant Likely benign rs181246559 16:50832250-50832250 16:50798339-50798339
61 CYLD NM_015247.2(CYLD): c.922+9C> A single nucleotide variant Likely benign rs528253971 16:50809094-50809094 16:50775183-50775183
62 CYLD NM_015247.2(CYLD): c.*4947G> A single nucleotide variant Likely benign rs567438576 16:50835366-50835366 16:50801455-50801455
63 CYLD NM_015247.2(CYLD): c.*5086A> G single nucleotide variant Likely benign rs572929759 16:50835505-50835505 16:50801594-50801594
64 CYLD NM_015247.2(CYLD): c.*5272C> T single nucleotide variant Likely benign rs140875917 16:50835691-50835691 16:50801780-50801780
65 CYLD NM_015247.2(CYLD): c.126G> A (p.Pro42=) single nucleotide variant Likely benign rs202119806 16:50783735-50783735 16:50749824-50749824
66 CYLD NM_015247.2(CYLD): c.*3614C> A single nucleotide variant Likely benign rs372370285 16:50834033-50834033 16:50800122-50800122
67 CYLD NM_015247.2(CYLD): c.*3736G> A single nucleotide variant Likely benign rs567662515 16:50834155-50834155 16:50800244-50800244
68 CYLD NM_015247.2(CYLD): c.*3070A> G single nucleotide variant Likely benign rs144667145 16:50833489-50833489 16:50799578-50799578
69 CYLD NM_015247.2(CYLD): c.*1590T> C single nucleotide variant Likely benign rs528844666 16:50832009-50832009 16:50798098-50798098
70 CYLD NM_015247.2(CYLD): c.*2150A> G single nucleotide variant Likely benign rs563954578 16:50832569-50832569 16:50798658-50798658
71 CYLD NM_015247.2(CYLD): c.*2646G> A single nucleotide variant Likely benign rs563329143 16:50833065-50833065 16:50799154-50799154
72 CYLD NM_015247.2(CYLD): c.*1341T> G single nucleotide variant Likely benign rs140767609 16:50831760-50831760 16:50797849-50797849
73 CYLD NM_015247.2(CYLD): c.*2615A> G single nucleotide variant Likely benign rs181056407 16:50833034-50833034 16:50799123-50799123
74 CYLD NM_015247.2(CYLD): c.*2305A> T single nucleotide variant Likely benign rs559634329 16:50832724-50832724 16:50798813-50798813
75 CYLD NM_015247.2(CYLD): c.*698T> G single nucleotide variant Likely benign rs541975303 16:50831117-50831117 16:50797206-50797206
76 CYLD NM_015247.2(CYLD): c.*841G> A single nucleotide variant Likely benign rs117537927 16:50831260-50831260 16:50797349-50797349
77 CYLD NM_015247.2(CYLD): c.*47G> A single nucleotide variant Likely benign rs116979331 16:50830466-50830466 16:50796555-50796555
78 CYLD NM_015247.2(CYLD): c.*4567C> T single nucleotide variant Likely benign rs113748745 16:50834986-50834986 16:50801075-50801075
79 CYLD NM_015247.2(CYLD): c.*1575G> A single nucleotide variant Likely benign rs184344245 16:50831994-50831994 16:50798083-50798083
80 CYLD NM_015247.2(CYLD): c.*3469T> C single nucleotide variant Likely benign rs111951225 16:50833888-50833888 16:50799977-50799977
81 CYLD NM_015247.2(CYLD): c.*3731C> T single nucleotide variant Likely benign rs551109634 16:50834150-50834150 16:50800239-50800239
82 CYLD NM_015247.2(CYLD): c.*3739C> G single nucleotide variant Likely benign rs16948836 16:50834158-50834158 16:50800247-50800247
83 CYLD NM_015247.2(CYLD): c.1172T> C (p.Ile391Thr) single nucleotide variant Likely benign rs138976689 16:50813609-50813609 16:50779698-50779698
84 CYLD NM_015247.2(CYLD): c.1473C> T (p.Ile491=) single nucleotide variant Likely benign rs75757530 16:50813910-50813910 16:50779999-50779999
85 CYLD NM_015247.2(CYLD): c.*1102G> A single nucleotide variant Likely benign rs141088048 16:50831521-50831521 16:50797610-50797610
86 CYLD NM_015247.2(CYLD): c.*1245T> C single nucleotide variant Likely benign rs192470603 16:50831664-50831664 16:50797753-50797753
87 CYLD NM_015247.2(CYLD): c.1292G> A (p.Gly431Glu) single nucleotide variant Likely benign rs200494719 16:50813729-50813729 16:50779818-50779818
88 CYLD NM_015247.2(CYLD): c.*837A> G single nucleotide variant Benign rs3743781 16:50831256-50831256 16:50797345-50797345
89 CYLD NM_015247.2(CYLD): c.*4561G> A single nucleotide variant Benign rs17314948 16:50834980-50834980 16:50801069-50801069
90 CYLD NM_015247.2(CYLD): c.*4888_*4889del deletion Benign rs143814807 16:50835307-50835308 16:50801396-50801397
91 CYLD NM_015247.2(CYLD): c.2109-10G> A single nucleotide variant Benign rs11865799 16:50825459-50825459 16:50791548-50791548
92 CYLD NM_015247.2(CYLD): c.2412C> T (p.Asp804=) single nucleotide variant Benign rs2066852 16:50827518-50827518 16:50793607-50793607
93 CYLD NM_015247.2(CYLD): c.*2122del deletion Benign rs74757288 16:50832541-50832541 16:50798630-50798630

UniProtKB/Swiss-Prot genetic disease variations for Brooke-Spiegler Syndrome:

74 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 CYLD p.Glu747Gly VAR_045967 rs121908389

Cosmic variations for Brooke-Spiegler Syndrome:

9 (showing 1284, show less)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM44097 TP53 skin,face,carcinoma,basal cell carcinoma c.530C>T p.P177L 17:7675082-7675082 28
2 COSM44295 TP53 skin,face,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 28
3 COSM10939 TP53 skin,face,carcinoma,basal cell carcinoma c.832C>T p.P278S 17:7673788-7673788 28
4 COSM10662 TP53 skin,face,carcinoma,basal cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 28
5 COSM11449 TP53 skin,face,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 28
6 COSM44068 TP53 skin,face,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 28
7 COSM10726 TP53 skin,face,carcinoma,basal cell carcinoma c.856G>A p.E286K 17:7673764-7673764 28
8 COSM10992 TP53 skin,face,carcinoma,basal cell carcinoma c.844C>G p.R282G 17:7673776-7673776 28
9 COSM45733 TP53 skin,face,carcinoma,basal cell carcinoma c.432G>A p.Q144Q 17:7675180-7675180 28
10 COSM43700 TP53 skin,face,carcinoma,basal cell carcinoma c.712T>A p.C238S 17:7674251-7674251 28
11 COSM44227 TP53 skin,face,carcinoma,basal cell carcinoma c.854A>T p.E285V 17:7673766-7673766 28
12 COSM44126 TP53 skin,eye,carcinoma,basal cell carcinoma c.507G>A p.M169I 17:7675105-7675105 28
13 COSM44435 TP53 skin,face,carcinoma,basal cell carcinoma c.96+1G>A p.? 17:7676381-7676381 28
14 COSM43920 TP53 skin,face,carcinoma,basal cell carcinoma c.680C>T p.S227F 17:7674283-7674283 28
15 COSM44436 TP53 skin,face,carcinoma,basal cell carcinoma c.375+2T>C p.? 17:7675992-7675992 28
16 COSM11084 TP53 skin,face,carcinoma,basal cell carcinoma c.517G>A p.V173M 17:7675095-7675095 28
17 COSM43742 TP53 skin,face,carcinoma,basal cell carcinoma c.419C>T p.T140I 17:7675193-7675193 28
18 COSM10887 TP53 skin,face,carcinoma,basal cell carcinoma c.833C>G p.P278R 17:7673787-7673787 28
19 COSM44241 TP53 skin,face,carcinoma,basal cell carcinoma c.592G>T p.E198* 17:7674939-7674939 28
20 COSM43583 TP53 skin,eye,carcinoma,basal cell carcinoma c.425C>T p.P142L 17:7675187-7675187 28
21 COSM44552 TP53 skin,face,carcinoma,basal cell carcinoma c.509C>T p.T170M 17:7675103-7675103 28
22 COSM13233 SUFU skin,face,carcinoma,basal cell carcinoma c.591C>T p.F197F 10:102592718-102592718 28
23 COSM13234 SUFU skin,face,carcinoma,basal cell carcinoma c.560C>T p.P187L 10:102592687-102592687 28
24 COSM3942016 SMO skin,face,carcinoma,basal cell carcinoma c.1376C>T p.A459V 7:129209307-129209307 28
25 COSM13145 SMO skin,face,carcinoma,basal cell carcinoma c.595C>T p.R199W 7:129205260-129205260 28
26 COSM216037 SMO skin,face,carcinoma,basal cell carcinoma c.1234C>T p.L412F 7:129206557-129206557 28
27 COSM13144 SMO skin,face,carcinoma,basal cell carcinoma c.1598G>A p.S533N 7:129210494-129210494 28
28 COSM13240 SMO skin,face,carcinoma,basal cell carcinoma c.1955C>T p.A652V 7:129212042-129212042 28
29 COSM17598 PTCH1 skin,face,carcinoma,basal cell carcinoma c.550C>T p.Q184* 9:95485719-95485719 28
30 COSM17495 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1229G>A p.S410N 9:95478173-95478173 28
31 COSM17511 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3583A>T p.T1195S 9:95449290-95449290 28
32 COSM17522 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3586C>T p.P1196S 9:95449287-95449287 28
33 COSM14439 PTCH1 skin,face,carcinoma,basal cell carcinoma c.992C>T p.S331F 9:95480044-95480044 28
34 COSM17584 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2105C>T p.P702L 9:95468896-95468896 28
35 COSM14446 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3054G>A p.W1018* 9:95458127-95458127 28
36 COSM17532 PTCH1 skin,face,carcinoma,basal cell carcinoma c.768G>A p.W256* 9:95480567-95480567 28
37 COSM26377 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3449+1G>A p.? 9:95453477-95453477 28
38 COSM17473 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2308C>T p.R770* 9:95467368-95467368 28
39 COSM17599 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2120C>T p.S707F 9:95468881-95468881 28
40 COSM17533 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2251-1G>A p.? 9:95467426-95467426 28
41 COSM29033 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2038G>T p.E680* 9:95468963-95468963 28
42 COSM17468 PTCH1 skin,neck,carcinoma,basal cell carcinoma c.584G>T p.R195M 9:95485685-95485685 28
43 COSM29043 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1634G>A p.G545E 9:95476128-95476128 28
44 COSM29071 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3549+5G>A p.? 9:95449836-95449836 28
45 COSM29045 PTCH1 skin,ear,carcinoma,basal cell carcinoma c.3168+5G>T p.? 9:95458008-95458008 28
46 COSM29046 PTCH1 skin,face,carcinoma,basal cell carcinoma c.747-1G>A p.? 9:95480589-95480589 28
47 COSM26363 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2446C>T p.Q816* 9:95467230-95467230 28
48 COSM29053 PTCH1 skin,neck,carcinoma,basal cell carcinoma c.833G>A p.W278* 9:95480502-95480502 28
49 COSM17582 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1082A>C p.Q361P 9:95479133-95479133 28
50 COSM29040 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2693A>G p.D898G 9:95461866-95461866 28
51 COSM17493 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1316T>C p.V439A 9:95478086-95478086 28
52 COSM17552 PTCH1 skin,ear,carcinoma,basal cell carcinoma c.1196G>A p.W399* 9:95479019-95479019 28
53 COSM29055 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2050G>T p.E684* 9:95468951-95468951 28
54 COSM29048 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1347+1G>A p.? 9:95478054-95478054 28
55 COSM17547 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1511C>A p.P504Q 9:95476850-95476850 28
56 COSM29072 PTCH1 skin,neck,carcinoma,basal cell carcinoma c.1067+1G>A p.? 9:95479968-95479968 28
57 COSM144232 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3209T>G p.M1070R 9:95456373-95456373 28
58 COSM14452 PTCH1 skin,neck,carcinoma,basal cell carcinoma c.2321G>A p.G774E 9:95467355-95467355 28
59 COSM17460 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3917C>T p.P1306L 9:95447339-95447339 28
60 COSM144244 PTCH1 skin,face,carcinoma,basal cell carcinoma c.994A>T p.R332* 9:95480042-95480042 28
61 COSM17498 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2033C>T p.T678I 9:95468968-95468968 28
62 COSM17520 PTCH1 skin,face,carcinoma,basal cell carcinoma c.584G>A p.R195K 9:95485685-95485685 28
63 COSM17519 PTCH1 skin,face,carcinoma,basal cell carcinoma c.463C>T p.P155S 9:95485806-95485806 28
64 COSM29147 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1356T>G p.Y452* 9:95477694-95477694 28
65 COSM17494 PTCH1 skin,face,carcinoma,basal cell carcinoma c.754C>T p.P252S 9:95480581-95480581 28
66 COSM17462 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1068-2A>T p.? 9:95479149-95479149 28
67 COSM29061 PTCH1 skin,face,carcinoma,basal cell carcinoma c.493G>T p.E165* 9:95485776-95485776 28
68 COSM144239 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1854C>A p.C618* 9:95469147-95469147 28
69 COSM17585 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2008C>T p.P670S 9:95468993-95468993 28
70 COSM14467 PTCH1 skin,ear,carcinoma,basal cell carcinoma c.3236G>T p.S1079I 9:95456346-95456346 28
71 COSM17497 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1433C>T p.A478V 9:95477617-95477617 28
72 COSM17492 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1085C>T p.T362I 9:95479130-95479130 28
73 COSM17530 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2965G>T p.E989* 9:95458216-95458216 28
74 COSM14464 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1804C>T p.R602* 9:95469856-95469856 28
75 COSM17496 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2072C>T p.T691I 9:95468929-95468929 28
76 COSM144245 PTCH1 skin,eye,carcinoma,basal cell carcinoma c.1585A>T p.K529* 9:95476776-95476776 28
77 COSM17600 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2207C>T p.A736V 9:95468794-95468794 28
78 COSM17483 PTCH1 skin,neck,carcinoma,basal cell carcinoma c.1729-1G>T p.? 9:95469932-95469932 28
79 COSM17601 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2011C>T p.H671Y 9:95468990-95468990 28
80 COSM520 KRAS skin,ear,carcinoma,basal cell carcinoma c.35G>T p.G12V 12:25245350-25245350 28
81 COSM133631 BRAF skin,face,carcinoma,basal cell carcinoma c.1828T>A p.F610I 7:140753307-140753307 28
82 COSM133632 BRAF skin,face,carcinoma,basal cell carcinoma c.1789C>T p.L597L 7:140753346-140753346 28
83 COSM6926860 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.5825G>A p.G1942E 16:72796857-72796857 21
84 COSM6969201 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 21
85 COSM6953811 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 21
86 COSM6926862 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 21
87 COSM6936924 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 21
88 COSM3691166 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 21
89 COSM6926861 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 21
90 COSM6982918 YES1 skin,eye,carcinoma,NS c.851G>A p.G284E 18:743289-743289 21
91 COSM212945 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 21
92 COSM6936922 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 21
93 COSM6926855 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 21
94 COSM6953809 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 21
95 COSM4736805 TSC1 skin,eye,carcinoma,NS c.2065C>T p.R689C 9:132903794-132903794 21
96 COSM6912933 TRAF7 skin,NS,carcinoma,basal cell carcinoma c.1802C>T p.T601I 16:2176104-2176104 21
97 COSM6971614 TRAF7 skin,eye,carcinoma,NS c.349G>A p.E117K 16:2171264-2171264 21
98 COSM6949578 TP63 skin,NS,carcinoma,basal cell carcinoma c.1922C>T p.A641V 3:189894381-189894381 21
99 COSM44071 TP53 skin,NS,carcinoma,basal cell carcinoma c.955A>G p.K319E 17:7673573-7673573 21
100 COSM10812 TP53 skin,NS,carcinoma,basal cell carcinoma c.722C>T p.S241F 17:7674241-7674241 21
101 COSM10988 TP53 skin,NS,carcinoma,basal cell carcinoma c.772G>A p.E258K 17:7674191-7674191 21
102 COSM45074 TP53 skin,NS,carcinoma,basal cell carcinoma c.829T>G p.C277G 17:7673791-7673791 21
103 COSM10728 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 17:7673781-7673781 21
104 COSM45739 TP53 skin,NS,carcinoma,basal cell carcinoma c.677G>C p.G226A 17:7674286-7674286 21
105 COSM10705 TP53 skin,face,carcinoma,NS c.586C>T p.R196* 17:7674945-7674945 21
106 COSM10701 TP53 skin,ear,carcinoma,NS c.824G>T p.C275F 17:7673796-7673796 21
107 COSM43544 TP53 skin,face,carcinoma,NS c.260C>A p.P87Q 17:7676109-7676109 21
108 COSM10650 TP53 skin,NS,carcinoma,basal cell carcinoma c.529C>T p.P177S 17:7675083-7675083 21
109 COSM44326 TP53 skin,face,carcinoma,NS c.706T>C p.Y236H 17:7674257-7674257 21
110 COSM43665 TP53 skin,NS,carcinoma,basal cell carcinoma c.746G>C p.R249T 17:7674217-7674217 21
111 COSM45774 TP53 skin,NS,carcinoma,basal cell carcinoma c.899C>G p.P300R 17:7673721-7673721 21
112 COSM10749 TP53 skin,NS,carcinoma,basal cell carcinoma c.830G>T p.C277F 17:7673790-7673790 21
113 COSM10660 TP53 skin,NS,carcinoma,basal cell carcinoma c.818G>A p.R273H 17:7673802-7673802 21
114 COSM10771 TP53 skin,NS,carcinoma,basal cell carcinoma c.749C>T p.P250L 17:7674214-7674214 21
115 COSM11152 TP53 skin,NS,carcinoma,basal cell carcinoma c.700T>C p.Y234H 17:7674263-7674263 21
116 COSM10768 TP53 skin,NS,carcinoma,basal cell carcinoma c.535C>T p.H179Y 17:7675077-7675077 21
117 COSM45834 TP53 skin,NS,carcinoma,basal cell carcinoma c.409C>A p.L137M 17:7675203-7675203 21
118 COSM10905 TP53 skin,NS,carcinoma,basal cell carcinoma c.451C>T p.P151S 17:7675161-7675161 21
119 COSM6932 TP53 skin,NS,carcinoma,basal cell carcinoma c.733G>A p.G245S 17:7674230-7674230 21
120 COSM10648 TP53 skin,NS,carcinoma,basal cell carcinoma c.524G>A p.R175H 17:7675088-7675088 21
121 COSM45424 TP53 skin,NS,carcinoma,basal cell carcinoma c.781A>T p.S261C 17:7674182-7674182 21
122 COSM10656 TP53 skin,face,carcinoma,NS c.742C>T p.R248W 17:7674221-7674221 21
123 COSM10659 TP53 skin,NS,carcinoma,basal cell carcinoma c.817C>T p.R273C 17:7673803-7673803 21
124 COSM10794 TP53 skin,NS,carcinoma,basal cell carcinoma c.796G>A p.G266R 17:7673824-7673824 21
125 COSM43582 TP53 skin,NS,carcinoma,basal cell carcinoma c.454C>T p.P152S 17:7675158-7675158 21
126 COSM6903965 TP53 skin,ear,carcinoma,NS c.988C>T p.L330F 17:7673540-7673540 21
127 COSM10704 TP53 skin,NS,carcinoma,basal cell carcinoma c.844C>T p.R282W 17:7673776-7673776 21
128 COSM45114 TP53 skin,ear,carcinoma,NS c.702C>A p.Y234* 17:7674261-7674261 21
129 COSM45830 TP53 skin,face,carcinoma,NS c.766A>C p.T256P 17:7674197-7674197 21
130 COSM6549 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>T p.R248L 17:7674220-7674220 21
131 COSM45304 TP53 skin,NS,carcinoma,basal cell carcinoma c.375+1G>A p.? 17:7675993-7675993 21
132 COSM10867 TP53 skin,NS,carcinoma,basal cell carcinoma c.797G>A p.G266E 17:7673823-7673823 21
133 COSM43714 TP53 skin,NS,carcinoma,basal cell carcinoma c.836G>A p.G279E 17:7673784-7673784 21
134 COSM44226 TP53 skin,NS,carcinoma,basal cell carcinoma c.380C>T p.S127F 17:7675232-7675232 21
135 COSM10995 TP53 skin,NS,carcinoma,basal cell carcinoma c.580C>T p.L194F 17:7674951-7674951 21
136 COSM45322 TP53 skin,NS,carcinoma,basal cell carcinoma c.757A>G p.T253A 17:7674206-7674206 21
137 COSM45444 TP53 skin,eye,carcinoma,NS c.587G>T p.R196L 17:7674944-7674944 21
138 COSM43592 TP53 skin,NS,carcinoma,basal cell carcinoma c.395A>T p.K132M 17:7675217-7675217 21
139 COSM10788 TP53 skin,ear,carcinoma,NS c.764T>G p.I255S 17:7674199-7674199 21
140 COSM43702 TP53 skin,NS,carcinoma,basal cell carcinoma c.571C>T p.P191S 17:7674960-7674960 21
141 COSM44398 TP53 skin,NS,carcinoma,basal cell carcinoma c.682G>A p.D228N 17:7674281-7674281 21
142 COSM43588 TP53 skin,face,carcinoma,NS c.740A>C p.N247T 17:7674223-7674223 21
143 COSM43663 TP53 skin,NS,carcinoma,basal cell carcinoma c.826G>C p.A276P 17:7673794-7673794 21
144 COSM44120 TP53 skin,NS,carcinoma,basal cell carcinoma c.532C>T p.H178Y 17:7675080-7675080 21
145 COSM11081 TP53 skin,face,carcinoma,NS c.733G>T p.G245C 17:7674230-7674230 21
146 COSM11073 TP53 skin,NS,carcinoma,basal cell carcinoma c.1024C>T p.R342* 17:7670685-7670685 21
147 COSM44603 TP53 skin,NS,carcinoma,basal cell carcinoma c.835G>A p.G279R 17:7673785-7673785 21
148 COSM45732 TP53 skin,NS,carcinoma,basal cell carcinoma c.480G>C p.M160I 17:7675132-7675132 21
149 COSM12296 TP53 skin,NS,carcinoma,basal cell carcinoma c.292C>T p.P98S 17:7676077-7676077 21
150 COSM10863 TP53 skin,NS,carcinoma,basal cell carcinoma c.833C>T p.P278L 17:7673787-7673787 21
151 COSM10733 TP53 skin,face,carcinoma,NS c.574C>T p.Q192* 17:7674957-7674957 21
152 COSM6937552 TP53 skin,eye,carcinoma,NS c.859G>C p.E287Q 17:7673761-7673761 21
153 COSM43651 TP53 skin,face,carcinoma,NS c.763A>T p.I255F 17:7674200-7674200 21
154 COSM43635 TP53 skin,NS,carcinoma,basal cell carcinoma c.536A>T p.H179L 17:7675076-7675076 21
155 COSM43837 TP53 skin,NS,carcinoma,basal cell carcinoma c.843C>G p.D281E 17:7673777-7673777 21
156 COSM45734 TP53 skin,NS,carcinoma,basal cell carcinoma c.622G>T p.D208Y 17:7674909-7674909 21
157 COSM44096 TP53 skin,NS,carcinoma,basal cell carcinoma c.748C>G p.P250A 17:7674215-7674215 21
158 COSM43616 TP53 skin,NS,carcinoma,basal cell carcinoma c.704A>G p.N235S 17:7674259-7674259 21
159 COSM44310 TP53 skin,NS,carcinoma,basal cell carcinoma c.738G>A p.M246I 17:7674225-7674225 21
160 COSM45751 TP53 skin,NS,carcinoma,basal cell carcinoma c.511G>C p.E171Q 17:7675101-7675101 21
161 COSM10724 TP53 skin,eye,carcinoma,NS c.839G>C p.R280T 17:7673781-7673781 21
162 COSM43778 TP53 skin,NS,carcinoma,basal cell carcinoma c.713G>T p.C238F 17:7674250-7674250 21
163 COSM44130 TP53 skin,NS,carcinoma,basal cell carcinoma c.477C>T p.A159A 17:7675135-7675135 21
164 COSM43695 TP53 skin,NS,carcinoma,basal cell carcinoma c.748C>T p.P250S 17:7674215-7674215 21
165 COSM43842 TP53 skin,NS,carcinoma,basal cell carcinoma c.770T>C p.L257P 17:7674193-7674193 21
166 COSM45169 TP53 skin,NS,carcinoma,basal cell carcinoma c.326T>C p.F109S 17:7676043-7676043 21
167 COSM11376 TP53 skin,NS,carcinoma,basal cell carcinoma c.737T>G p.M246R 17:7674226-7674226 21
168 COSM44606 TP53 skin,NS,carcinoma,basal cell carcinoma c.665C>T p.P222L 17:7674866-7674866 21
169 COSM45138 TP53 skin,NS,carcinoma,basal cell carcinoma c.853G>C p.E285Q 17:7673767-7673767 21
170 COSM45677 TP53 skin,face,carcinoma,NS c.714T>A p.C238* 17:7674249-7674249 21
171 COSM6927532 TGFBR1 skin,NS,carcinoma,basal cell carcinoma c.1255G>A p.G419R 9:99146609-99146609 21
172 COSM199708 TGFBR1 skin,NS,carcinoma,basal cell carcinoma c.1459C>T p.R487W 9:99149252-99149252 21
173 COSM607136 TGFBR1 skin,neck,carcinoma,NS c.1247C>T p.S416F 9:99146601-99146601 21
174 COSM166291 TET2 skin,NS,carcinoma,basal cell carcinoma c.5681C>T p.P1894L 4:105276191-105276191 21
175 COSM3472000 TENT5C skin,NS,carcinoma,basal cell carcinoma c.1001C>T p.S334F 1:117623869-117623869 21
176 COSM6926867 TCF3 skin,NS,carcinoma,basal cell carcinoma c.416C>T p.S139F 19:1625659-1625659 21
177 COSM6912931 TBX3 skin,NS,carcinoma,basal cell carcinoma c.45G>A p.M15I 12:114683156-114683156 21
178 COSM4462891 STK40 skin,eye,carcinoma,NS c.1265C>T p.S422F 1:36341798-36341798 21
179 COSM4462893 STK40 skin,eye,carcinoma,NS c.1265C>T p.S422F 1:36341798-36341798 21
180 COSM51520 STK11 skin,NS,carcinoma,basal cell carcinoma c.536C>T p.P179L 19:1220444-1220444 21
181 COSM6926864 STAT5B skin,NS,carcinoma,basal cell carcinoma c.2347C>T p.P783S 17:42201755-42201755 21
182 COSM1716826 STAT5B skin,NS,carcinoma,basal cell carcinoma c.1697G>A p.R566Q 17:42210481-42210481 21
183 COSM1716827 STAT5B skin,NS,carcinoma,basal cell carcinoma c.2207C>T p.P736L 17:42202370-42202370 21
184 COSM6936926 STAT5A skin,NS,carcinoma,basal cell carcinoma c.286-1G>A p.? 17:42291971-42291971 21
185 COSM6936928 STAT3 skin,NS,carcinoma,basal cell carcinoma c.1286C>T p.S429F 17:42326195-42326195 21
186 COSM6926758 SPEN skin,NS,carcinoma,basal cell carcinoma c.8389C>T p.P2797S 1:15934629-15934629 21
187 COSM6009093 SPEN skin,eye,carcinoma,NS c.9563C>T p.P3188L 1:15935803-15935803 21
188 COSM6926757 SPEN skin,NS,carcinoma,basal cell carcinoma c.1294T>A p.F432I 1:15916178-15916178 21
189 COSM6982915 SOX2 skin,eye,carcinoma,NS c.237G>A p.W79* 3:181712597-181712597 21
190 COSM3942015 SMO skin,NS,carcinoma,basal cell carcinoma c.961G>A p.V321M 7:129206190-129206190 21
191 COSM13146 SMO skin,NS,carcinoma,basal cell carcinoma c.1604G>T p.W535L 7:129210500-129210500 21
192 COSM5731073 SMO skin,NS,carcinoma,basal cell carcinoma c.842G>T p.W281L 7:129205704-129205704 21
193 COSM6962965 SMO skin,neck,carcinoma,NS c.1103C>T p.P368L 7:129206332-129206332 21
194 COSM4413609 SMO skin,NS,carcinoma,basal cell carcinoma c.1489G>T p.G497W 7:129210385-129210385 21
195 COSM5775414 SMO skin,NS,carcinoma,basal cell carcinoma c.1222A>G p.I408V 7:129206545-129206545 21
196 COSM6909694 SMO skin,NS,carcinoma,basal cell carcinoma c.998T>G p.V333G 7:129206227-129206227 21
197 COSM13152 SMO skin,NS,carcinoma,basal cell carcinoma c.1685G>A p.R562Q 7:129210997-129210997 21
198 COSM4413608 SMO skin,NS,carcinoma,basal cell carcinoma c.1417G>T p.D473Y 7:129209348-129209348 21
199 COSM6951263 SMARCD1 skin,NS,carcinoma,basal cell carcinoma c.422G>A p.R141Q 12:50087370-50087370 21
200 COSM6912944 SMARCA4 skin,NS,carcinoma,basal cell carcinoma c.512C>T p.P171L 19:10986345-10986345 21
201 COSM6951276 SMARCA4 skin,NS,carcinoma,basal cell carcinoma c.170C>T p.P57L 19:10984321-10984321 21
202 COSM6912942 SMARCA4 skin,NS,carcinoma,basal cell carcinoma c.463G>A p.D155N 19:10986296-10986296 21
203 COSM303247 SMARCA4 skin,NS,carcinoma,basal cell carcinoma c.3574C>T p.R1192C 19:11033317-11033317 21
204 COSM1226711 SMAD2 skin,NS,carcinoma,basal cell carcinoma c.1266G>A p.W422* 18:47845354-47845354 21
205 COSM6912936 SMAD2 skin,NS,carcinoma,basal cell carcinoma c.737C>T p.P246L 18:47851321-47851321 21
206 COSM6926879 SH2D1A skin,NS,carcinoma,basal cell carcinoma c.192G>A p.W64* 23:124365815-124365815 21
207 COSM6926865 RPTOR skin,NS,carcinoma,basal cell carcinoma c.115A>T p.I39F 17:80545744-80545744 21
208 COSM6912934 RPTOR skin,NS,carcinoma,basal cell carcinoma c.1606G>C p.A536P 17:80883440-80883440 21
209 COSM6933705 RPTOR skin,ear,carcinoma,NS c.8C>A p.S3Y 17:80545637-80545637 21
210 COSM6951261 RPS6KB2 skin,NS,carcinoma,basal cell carcinoma c.901A>T p.K301* 11:67433442-67433442 21
211 COSM6926838 RPS6KA4 skin,NS,carcinoma,basal cell carcinoma c.1031C>T p.P344L 11:64365425-64365425 21
212 COSM5925307 ROS1 skin,NS,carcinoma,basal cell carcinoma c.5479C>T p.Q1827* 6:117326302-117326302 21
213 COSM6926804 ROS1 skin,NS,carcinoma,basal cell carcinoma c.1337C>T p.A446V 6:117389772-117389772 21
214 COSM6926802 ROS1 skin,NS,carcinoma,basal cell carcinoma c.4883G>A p.G1628E 6:117341419-117341419 21
215 COSM229019 ROS1 skin,NS,carcinoma,basal cell carcinoma c.3103C>T p.R1035* 6:117365075-117365075 21
216 COSM6936915 ROS1 skin,NS,carcinoma,basal cell carcinoma c.1262G>A p.G421E 6:117393224-117393224 21
217 COSM5890218 ROS1 skin,NS,carcinoma,basal cell carcinoma c.5426G>A p.G1809E 6:117326355-117326355 21
218 COSM6953786 ROS1 skin,NS,carcinoma,basal cell carcinoma c.4903-1G>A p.? 6:117341312-117341312 21
219 COSM5538304 RNF43 skin,eye,carcinoma,NS c.866C>T p.S289F 17:58360235-58360235 21
220 COSM6912908 RICTOR skin,NS,carcinoma,basal cell carcinoma c.4666G>A p.E1556K 5:38945036-38945036 21
221 COSM2849898 RHOA skin,NS,carcinoma,basal cell carcinoma c.50G>A p.G17E 3:49375540-49375540 21
222 COSM1731707 RB1 skin,face,carcinoma,NS c.1789C>T p.Q597* 13:48453086-48453086 21
223 COSM6962990 RARA skin,neck,carcinoma,NS c.1384C>T p.P462S 17:40356221-40356221 21
224 COSM5468163 RAD52 skin,eye,carcinoma,NS c.779G>A p.R260Q 12:916430-916430 21
225 COSM6962984 RAD52 skin,neck,carcinoma,NS c.439G>A p.V147M 12:927173-927173 21
226 COSM6962994 PTPRT skin,neck,carcinoma,NS c.1607C>T p.S536L 20:42352239-42352239 21
227 COSM4493086 PTPRT skin,NS,carcinoma,basal cell carcinoma c.4108C>T p.P1370S 20:42084776-42084776 21
228 COSM6962992 PTPRT skin,neck,carcinoma,NS c.1619G>A p.G540E 20:42352227-42352227 21
229 COSM3546515 PTPRT skin,NS,carcinoma,basal cell carcinoma c.2083C>T p.L695F 20:42315779-42315779 21
230 COSM5564171 PTPRT skin,NS,carcinoma,basal cell carcinoma c.3424C>T p.R1142W 20:42106818-42106818 21
231 COSM6933707 PTPRS skin,ear,carcinoma,NS c.5600A>C p.K1867T 19:5208279-5208279 21
232 COSM6912939 PTPRS skin,NS,carcinoma,basal cell carcinoma c.2839C>T p.L947F 19:5222953-5222953 21
233 COSM4646623 PTPRS skin,NS,carcinoma,basal cell carcinoma c.2710C>T p.R904W 19:5223082-5223082 21
234 COSM6953794 PTPRD skin,NS,carcinoma,basal cell carcinoma c.942A>G p.I314M 9:8521296-8521296 21
235 COSM3395877 PTPRD skin,NS,carcinoma,basal cell carcinoma c.3925G>A p.E1309K 9:8449788-8449788 21
236 COSM6962970 PTPRD skin,neck,carcinoma,NS c.1736G>A p.S579N 9:8504347-8504347 21
237 COSM5610301 PTPRD skin,NS,carcinoma,basal cell carcinoma c.2023G>A p.E675K 9:8500859-8500859 21
238 COSM6926820 PTPRD skin,NS,carcinoma,basal cell carcinoma c.5380G>A p.D1794N 9:8331736-8331736 21
239 COSM456125 PTPRD skin,neck,carcinoma,NS c.5048C>T p.S1683F 9:8341168-8341168 21
240 COSM6926826 PTPRD skin,NS,carcinoma,basal cell carcinoma c.1774G>A p.G592S 9:8504309-8504309 21
241 COSM5610130 PTPRD skin,NS,carcinoma,basal cell carcinoma c.2131C>T p.P711S 9:8499838-8499838 21
242 COSM1700914 PTPRD skin,neck,carcinoma,NS c.1261C>T p.P421S 9:8518130-8518130 21
243 COSM6912921 PTPRD skin,NS,carcinoma,basal cell carcinoma c.2979A>C p.K993N 9:8485838-8485838 21
244 COSM17475 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1292T>A p.L431Q 9:95478110-95478110 21
245 COSM17490 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3584C>T p.T1195I 9:95449289-95449289 21
246 COSM17596 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.863G>A p.G288D 9:95480472-95480472 21
247 COSM29062 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2865C>A p.Y955* 9:95459622-95459622 21
248 COSM96958 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1930C>T p.P644S 9:95469071-95469071 21
249 COSM26356 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.834G>A p.W278* 9:95480501-95480501 21
250 COSM26373 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3499G>A p.G1167R 9:95449891-95449891 21
251 COSM6912923 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3758A>T p.Q1253L 9:95449115-95449115 21
252 COSM29349 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2066C>T p.P689L 9:95468935-95468935 21
253 COSM17474 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2062C>T p.Q688* 9:95468939-95468939 21
254 COSM17489 PTCH1 skin,face,carcinoma,NS c.3724G>A p.E1242K 9:95449149-95449149 21
255 COSM14456 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2778G>A p.W926* 9:95459709-95459709 21
256 COSM29057 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2713C>T p.Q905* 9:95459774-95459774 21
257 COSM26368 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3046C>T p.L1016F 9:95458135-95458135 21
258 COSM17592 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3605C>T p.P1202L 9:95449268-95449268 21
259 COSM17467 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1726C>T p.Q576* 9:95476036-95476036 21
260 COSM17454 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3340A>T p.R1114W 9:95453587-95453587 21
261 COSM5939959 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.654+1G>A p.? 9:95482133-95482133 21
262 COSM17481 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.709G>A p.E237K 9:95481986-95481986 21
263 COSM26361 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.4187G>A p.G1396E 9:95447069-95447069 21
264 COSM1651689 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.250C>T p.Q84* 9:95506551-95506551 21
265 COSM26357 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3153G>A p.W1051* 9:95458028-95458028 21
266 COSM14440 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1093C>T p.Q365* 9:95479122-95479122 21
267 COSM17594 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2287G>A p.V763I 9:95467389-95467389 21
268 COSM96936 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2885G>C p.R962T 9:95459602-95459602 21
269 COSM26378 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1848-1G>A p.? 9:95469154-95469154 21
270 COSM17472 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1249C>T p.Q417* 9:95478153-95478153 21
271 COSM17434 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.523C>T p.L175F 9:95485746-95485746 21
272 COSM26381 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3306+1G>A p.? 9:95456275-95456275 21
273 COSM26364 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1481C>T p.S494F 9:95477569-95477569 21
274 COSM96966 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2561-1G>A p.? 9:95461999-95461999 21
275 COSM17608 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1161G>A p.W387* 9:95479054-95479054 21
276 COSM96957 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.713G>A p.G238E 9:95481982-95481982 21
277 COSM14455 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3590C>T p.S1197F 9:95449283-95449283 21
278 COSM17597 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1977G>A p.Q659Q 9:95469024-95469024 21
279 COSM29068 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1603-1G>A p.? 9:95476160-95476160 21
280 COSM6926831 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.584+1G>A p.? 9:95485684-95485684 21
281 COSM24852 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1615G>T p.E539* 9:95476147-95476147 21
282 COSM1651688 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.451G>A p.A151T 9:95485818-95485818 21
283 COSM17476 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.707G>A p.W236* 9:95481988-95481988 21
284 COSM17456 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1160G>A p.W387* 9:95479055-95479055 21
285 COSM17455 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.666T>A p.Y222* 9:95482029-95482029 21
286 COSM29052 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.724C>T p.Q242* 9:95481971-95481971 21
287 COSM96964 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2588G>A p.W863* 9:95461971-95461971 21
288 COSM6951255 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.785T>A p.L262* 9:95480550-95480550 21
289 COSM17480 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1847G>A p.S616N 9:95469813-95469813 21
290 COSM26365 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.475A>T p.I159L 9:95485794-95485794 21
291 COSM96960 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3592C>T p.P1198S 9:95449281-95449281 21
292 COSM17602 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1922C>T p.P641L 9:95469079-95469079 21
293 COSM1651750 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3169-2A>G p.? 9:95456415-95456415 21
294 COSM17453 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3196G>T p.E1066* 9:95456386-95456386 21
295 COSM26370 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.286A>T p.K96* 9:95506515-95506515 21
296 COSM29054 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.387G>A p.W129* 9:95506414-95506414 21
297 COSM1651687 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2557C>T p.Q853* 9:95467119-95467119 21
298 COSM26369 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1439C>G p.S480* 9:95477611-95477611 21
299 COSM96965 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2812C>T p.Q938* 9:95459675-95459675 21
300 COSM5989692 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.4048C>T p.R1350W 9:95447208-95447208 21
301 COSM1651749 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3450-1G>A p.? 9:95449941-95449941 21
302 COSM26372 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2372T>C p.I791T 9:95467304-95467304 21
303 COSM29348 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1450G>A p.G484R 9:95477600-95477600 21
304 COSM96963 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1703C>T p.P568L 9:95476059-95476059 21
305 COSM17459 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2042C>T p.P681L 9:95468959-95468959 21
306 COSM17477 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3487G>A p.G1163S 9:95449903-95449903 21
307 COSM29051 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.478C>T p.Q160* 9:95485791-95485791 21
308 COSM14460 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2364T>A p.Y788* 9:95467312-95467312 21
309 COSM17551 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1396C>T p.Q466* 9:95477654-95477654 21
310 COSM26367 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.445G>T p.E149* 9:95485824-95485824 21
311 COSM96959 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2048C>T p.S683F 9:95468953-95468953 21
312 COSM17548 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3499G>T p.G1167W 9:95449891-95449891 21
313 COSM24853 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1688C>T p.A563V 9:95476074-95476074 21
314 COSM17521 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1993C>G p.R665G 9:95469008-95469008 21
315 COSM6172265 PRDM1 skin,NS,carcinoma,basal cell carcinoma c.271C>T p.P91S 6:106095702-106095702 21
316 COSM221754 PPP6C skin,eye,carcinoma,NS c.790C>T p.R264C 9:125149801-125149801 21
317 COSM6951271 PPM1D skin,NS,carcinoma,basal cell carcinoma c.674G>A p.R225K 17:60623722-60623722 21
318 COSM6926852 POLE skin,NS,carcinoma,basal cell carcinoma c.4367C>T p.S1456L 12:132643484-132643484 21
319 COSM6926874 POLD1 skin,NS,carcinoma,basal cell carcinoma c.2096C>T p.S699F 19:50409608-50409608 21
320 COSM40483 POLD1 skin,NS,carcinoma,basal cell carcinoma c.2734C>T p.P912S 19:50415740-50415740 21
321 COSM4543732 PLCG2 skin,NS,carcinoma,basal cell carcinoma c.3430G>A p.D1144N 16:81940008-81940008 21
322 COSM6951268 PLCG2 skin,NS,carcinoma,basal cell carcinoma c.67G>A p.E23K 16:81786056-81786056 21
323 COSM6962989 PLCG2 skin,neck,carcinoma,NS c.115G>T p.E39* 16:81786104-81786104 21
324 COSM6971613 PIK3R1 skin,eye,carcinoma,NS c.608A>G p.Y203C 5:68279707-68279707 21
325 COSM6953790 PIK3CG skin,NS,carcinoma,basal cell carcinoma c.785C>T p.P262L 7:106868346-106868346 21
326 COSM6912915 PIK3CG skin,NS,carcinoma,basal cell carcinoma c.1024C>T p.H342Y 7:106868585-106868585 21
327 COSM6962963 PIK3CG skin,neck,carcinoma,NS c.310G>A p.G104R 7:106867871-106867871 21
328 COSM6926809 PIK3CG skin,NS,carcinoma,basal cell carcinoma c.202G>A p.E68K 7:106867763-106867763 21
329 COSM6962964 PIK3CG skin,neck,carcinoma,NS c.3227G>A p.R1076K 7:106905305-106905305 21
330 COSM6953791 PIK3CG skin,NS,carcinoma,basal cell carcinoma c.3172G>A p.G1058R 7:106905250-106905250 21
331 COSM6056498 PIK3CD skin,NS,carcinoma,basal cell carcinoma c.1495G>A p.E499K 1:9720635-9720635 21
332 COSM6926779 PIK3CB skin,NS,carcinoma,basal cell carcinoma c.934C>T p.P312S 3:138734672-138734672 21
333 COSM748 PIK3CA skin,NS,carcinoma,basal cell carcinoma c.317G>T p.G106V 3:179199142-179199142 21
334 COSM6926866 PIK3C3 skin,NS,carcinoma,basal cell carcinoma c.313C>T p.Q105* 18:41962544-41962544 21
335 COSM6912935 PIK3C3 skin,NS,carcinoma,basal cell carcinoma c.1216G>A p.E406K 18:42013487-42013487 21
336 COSM6926780 PHOX2B skin,NS,carcinoma,basal cell carcinoma c.890C>T p.S297L 4:41745862-41745862 21
337 COSM3212050 PDGFRB skin,NS,carcinoma,basal cell carcinoma c.3001C>T p.P1001S 5:150117754-150117754 21
338 COSM6927530 PDGFRB skin,NS,carcinoma,basal cell carcinoma c.2890G>A p.E964K 5:150118761-150118761 21
339 COSM6912912 PDGFRB skin,NS,carcinoma,basal cell carcinoma c.2596C>T p.P866S 5:150120114-150120114 21
340 COSM6936906 PARP1 skin,NS,carcinoma,basal cell carcinoma c.232C>T p.R78W 1:226402268-226402268 21
341 COSM6937135 NTRK2 skin,NS,carcinoma,basal cell carcinoma c.1588C>T p.P530S 9:84867386-84867386 21
342 COSM585 NRAS skin,face,carcinoma,NS c.183A>T p.Q61H 1:114713907-114713907 21
343 COSM564 NRAS skin,NS,carcinoma,basal cell carcinoma c.35G>A p.G12D 1:114716126-114716126 21
344 COSM6903909 NRAS skin,face,carcinoma,NS c.443C>T p.T148I 1:114709576-114709576 21
345 COSM574 NRAS skin,face,carcinoma,NS c.38G>T p.G13V 1:114716123-114716123 21
346 COSM6921920 NPM1 skin,NS,carcinoma,basal cell carcinoma c.584C>T p.S195F 5:171400840-171400840 21
347 COSM5609653 NOTCH3 skin,NS,carcinoma,basal cell carcinoma c.2224C>T p.P742S 19:15185329-15185329 21
348 COSM6936931 NOTCH3 skin,NS,carcinoma,basal cell carcinoma c.6196C>T p.P2066S 19:15161432-15161432 21
349 COSM1667036 NOTCH2 skin,face,carcinoma,NS c.337C>T p.R113* 1:120005407-120005407 21
350 COSM6903985 NOTCH2 skin,face,carcinoma,NS c.5524T>C p.S1842P 1:119919569-119919569 21
351 COSM6903873 NOTCH2 skin,face,carcinoma,NS c.5141G>A p.G1714D 1:119922308-119922308 21
352 COSM6903860 NOTCH2 skin,face,carcinoma,NS c.4418G>T p.W1473L 1:119925398-119925398 21
353 COSM6903872 NOTCH2 skin,face,carcinoma,NS c.5140G>A p.G1714S 1:119922309-119922309 21
354 COSM6903828 NOTCH2 skin,ear,carcinoma,NS c.1378T>C p.C460R 1:119967508-119967508 21
355 COSM6903875 NOTCH2 skin,face,carcinoma,NS c.5266G>A p.E1756K 1:119921757-119921757 21
356 COSM6903891 NOTCH2 skin,face,carcinoma,NS c.5942T>C p.L1981P 1:119917750-119917750 21
357 COSM6903836 NOTCH2 skin,face,carcinoma,NS c.2314T>C p.C772R 1:119953594-119953594 21
358 COSM6903889 NOTCH2 skin,NS,carcinoma,basal cell carcinoma c.5930-1G>C p.? 1:119917763-119917763 21
359 COSM6903876 NOTCH2 skin,face,carcinoma,NS c.5449G>A p.D1817N 1:119920259-119920259 21
360 COSM6903853 NOTCH2 skin,ear,carcinoma,NS c.3578A>G p.N1193S 1:119935549-119935549 21
361 COSM6903835 NOTCH2 skin,face,carcinoma,NS c.2234G>A p.C745Y 1:119953674-119953674 21
362 COSM6903838 NOTCH2 skin,face,carcinoma,NS c.2414T>C p.L805P 1:119950789-119950789 21
363 COSM6903848 NOTCH2 skin,ear,carcinoma,NS c.3304A>G p.N1102D 1:119937890-119937890 21
364 COSM3862408 NOTCH2 skin,ear,carcinoma,NS c.2504C>T p.A835V 1:119949102-119949102 21
365 COSM6903841 NOTCH2 skin,face,carcinoma,NS c.2602C>G p.Q868E 1:119948564-119948564 21
366 COSM6903870 NOTCH2 skin,face,carcinoma,NS c.5006A>G p.E1669G 1:119922443-119922443 21
367 COSM6903855 NOTCH2 skin,ear,carcinoma,NS c.3697C>T p.P1233S 1:119929171-119929171 21
368 COSM1667039 NOTCH2 skin,ear,carcinoma,NS c.2839C>T p.Q947* 1:119941668-119941668 21
369 COSM6971611 NOTCH2 skin,eye,carcinoma,NS c.4091C>T p.P1364L 1:119925725-119925725 21
370 COSM6903823 NOTCH2 skin,face,carcinoma,NS c.1060A>G p.I354V 1:119969559-119969559 21
371 COSM6903877 NOTCH2 skin,face,carcinoma,NS c.5468T>C p.V1823A 1:119920240-119920240 21
372 COSM6912888 NOTCH2 skin,NS,carcinoma,basal cell carcinoma c.1109G>A p.G370D 1:119968232-119968232 21
373 COSM6903852 NOTCH2 skin,ear,carcinoma,NS c.3511T>C p.Y1171H 1:119937293-119937293 21
374 COSM6903986 NOTCH2 skin,face,carcinoma,NS c.5524T>A p.S1842T 1:119919569-119919569 21
375 COSM6903867 NOTCH2 skin,ear,carcinoma,NS c.4708G>A p.G1570S 1:119923788-119923788 21
376 COSM5888593 NOTCH2 skin,NS,carcinoma,basal cell carcinoma c.2636C>T p.S879F 1:119948530-119948530 21
377 COSM6903905 NOTCH2 skin,face,carcinoma,NS c.7097C>T p.A2366V 1:119915625-119915625 21
378 COSM6903894 NOTCH2 skin,ear,carcinoma,NS c.6607A>G p.N2203D 1:119916115-119916115 21
379 COSM6903880 NOTCH2 skin,ear,carcinoma,NS c.5560T>C p.S1854P 1:119919533-119919533 21
380 COSM6903887 NOTCH2 skin,face,carcinoma,NS c.5836A>G p.T1946A 1:119918499-119918499 21
381 COSM6903904 NOTCH2 skin,face,carcinoma,NS c.7085A>G p.D2362G 1:119915637-119915637 21
382 COSM6903844 NOTCH2 skin,face,carcinoma,NS c.2987G>A p.C996Y 1:119940751-119940751 21
383 COSM6926759 NOTCH2 skin,NS,carcinoma,basal cell carcinoma c.2027-1G>A p.? 1:119955233-119955233 21
384 COSM6903633 NOTCH1 skin,face,carcinoma,NS c.3394C>T p.R1132C 9:136508071-136508071 21
385 COSM6926835 NOTCH1 skin,NS,carcinoma,basal cell carcinoma c.3571C>T p.P1191S 9:136507377-136507377 21
386 COSM6903601 NOTCH1 skin,face,carcinoma,NS c.2609T>C p.I870T 9:136510784-136510784 21
387 COSM6903681 NOTCH1 skin,face,carcinoma,NS c.4211A>G p.E1404G 9:136505685-136505685 21
388 COSM6903579 NOTCH1 skin,face,carcinoma,NS c.1714C>A p.P572T 9:136515672-136515672 21
389 COSM6903675 NOTCH1 skin,ear,carcinoma,NS c.4169C>T p.P1390L 9:136505727-136505727 21
390 COSM6903739 NOTCH1 skin,face,carcinoma,NS c.5065T>C p.S1689P 9:136503284-136503284 21
391 COSM4855290 NOTCH1 skin,face,carcinoma,NS c.1400G>A p.C467Y 9:136517793-136517793 21
392 COSM327180 NOTCH1 skin,face,carcinoma,NS c.5554G>A p.D1852N 9:136501832-136501832 21
393 COSM6903557 NOTCH1 skin,ear,carcinoma,NS c.1289T>A p.I430N 9:136517904-136517904 21
394 COSM4520346 NOTCH1 skin,face,carcinoma,NS c.1054G>A p.D352N 9:136518636-136518636 21
395 COSM6903621 NOTCH1 skin,face,carcinoma,NS c.3154A>C p.T1052P 9:136508887-136508887 21
396 COSM3215909 NOTCH1 skin,face,carcinoma,NS c.5879T>C p.M1960T 9:136500607-136500607 21
397 COSM6903735 NOTCH1 skin,face,carcinoma,NS c.5045A>T p.N1682I 9:136503304-136503304 21
398 COSM6951259 NOTCH1 skin,NS,carcinoma,basal cell carcinoma c.689G>A p.G230E 9:136522903-136522903 21
399 COSM6903569 NOTCH1 skin,face,carcinoma,NS c.1486A>G p.S496G 9:136517341-136517341 21
400 COSM6903667 NOTCH1 skin,face,carcinoma,NS c.4132T>C p.F1378L 9:136505764-136505764 21
401 COSM6903517 NOTCH1 skin,face,carcinoma,NS c.199C>T p.P67S 9:136523921-136523921 21
402 COSM6903519 NOTCH1 skin,face,carcinoma,NS c.200C>T p.P67L 9:136523920-136523920 21
403 COSM6903513 NOTCH1 skin,face,carcinoma,NS c.108G>T p.K36N 9:136544056-136544056 21
404 COSM6903703 NOTCH1 skin,face,carcinoma,NS c.4417G>T p.G1473C 9:136505479-136505479 21
405 COSM6903511 NOTCH1 skin,face,carcinoma,NS c.65C>G p.P22R 9:136544099-136544099 21
406 COSM139812 NOTCH1 skin,face,carcinoma,NS c.2468-1G>A p.? 9:136511272-136511272 21
407 COSM6903515 NOTCH1 skin,face,carcinoma,NS c.113A>G p.E38G 9:136544051-136544051 21
408 COSM6903581 NOTCH1 skin,face,carcinoma,NS c.1847G>A p.G616D 9:136515539-136515539 21
409 COSM6903637 NOTCH1 skin,face,carcinoma,NS c.3556G>A p.E1186K 9:136507392-136507392 21
410 COSM6903750 NOTCH1 skin,ear,carcinoma,NS c.5431A>T p.N1811Y 9:136502042-136502042 21
411 COSM6903721 NOTCH1 skin,face,carcinoma,NS c.4546T>G p.F1516V 9:136505350-136505350 21
412 COSM6903689 NOTCH1 skin,face,carcinoma,NS c.4309G>A p.G1437R 9:136505587-136505587 21
413 COSM5609565 NOTCH1 skin,face,carcinoma,NS c.751G>A p.G251S 9:136519557-136519557 21
414 COSM6903705 NOTCH1 skin,face,carcinoma,NS c.4417G>A p.G1473S 9:136505479-136505479 21
415 COSM6903788 NOTCH1 skin,face,carcinoma,NS c.7022C>T p.S2341F 9:136496717-136496717 21
416 COSM6953803 NOTCH1 skin,NS,carcinoma,basal cell carcinoma c.1339C>T p.P447S 9:136517854-136517854 21
417 COSM6903599 NOTCH1 skin,face,carcinoma,NS c.2578G>A p.G860S 9:136511161-136511161 21
418 COSM6903587 NOTCH1 skin,face,carcinoma,NS c.1903G>A p.G635R 9:136515483-136515483 21
419 COSM99651 NOTCH1 skin,face,carcinoma,NS c.1093C>T p.R365C 9:136518597-136518597 21
420 COSM6903605 NOTCH1 skin,face,carcinoma,NS c.2712C>G p.C904W 9:136510681-136510681 21
421 COSM5884808 NOTCH1 skin,face,carcinoma,NS c.4156C>A p.P1386T 9:136505740-136505740 21
422 COSM6903619 NOTCH1 skin,face,carcinoma,NS c.3055C>T p.Q1019* 9:136508986-136508986 21
423 COSM6903695 NOTCH1 skin,face,carcinoma,NS c.4355C>T p.P1452L 9:136505541-136505541 21
424 COSM6903709 NOTCH1 skin,face,carcinoma,NS c.4424A>C p.D1475A 9:136505472-136505472 21
425 COSM6903741 NOTCH1 skin,face,carcinoma,NS c.5141T>C p.I1714T 9:136503208-136503208 21
426 COSM6903535 NOTCH1 skin,face,carcinoma,NS c.968G>T p.C323F 9:136518722-136518722 21
427 COSM6903611 NOTCH1 skin,face,carcinoma,NS c.2791T>C p.C931R 9:136509911-136509911 21
428 COSM6903629 NOTCH1 skin,face,carcinoma,NS c.3289C>T p.P1097S 9:136508268-136508268 21
429 COSM6903661 NOTCH1 skin,face,carcinoma,NS c.4088G>A p.C1363Y 9:136505808-136505808 21
430 COSM6903797 NOTCH1 skin,face,carcinoma,NS c.7503G>C p.Q2501H 9:136496236-136496236 21
431 COSM6903795 NOTCH1 skin,face,carcinoma,NS c.7405C>A p.P2469T 9:136496334-136496334 21
432 COSM6903764 NOTCH1 skin,face,carcinoma,NS c.5932C>T p.Q1978* 9:136500554-136500554 21
433 COSM6903531 NOTCH1 skin,ear,carcinoma,NS c.866-2A>C p.? 9:136518826-136518826 21
434 COSM2936617 NF2 skin,NS,carcinoma,basal cell carcinoma c.404C>T p.P135L 22:29642242-29642242 21
435 COSM21991 NF2 skin,NS,carcinoma,basal cell carcinoma c.169C>T p.R57* 22:29636805-29636805 21
436 COSM6951270 NF1 skin,NS,carcinoma,basal cell carcinoma c.6099T>A p.D2033E 17:31336425-31336425 21
437 COSM220104 NF1 skin,NS,carcinoma,basal cell carcinoma c.4108C>T p.Q1370* 17:31249117-31249117 21
438 COSM6936905 NEGR1 skin,NS,carcinoma,basal cell carcinoma c.713G>A p.G238E 1:71611101-71611101 21
439 COSM4559546 NEGR1 skin,NS,carcinoma,basal cell carcinoma c.809G>A p.G270E 1:71592948-71592948 21
440 COSM6951277 NCOA3 skin,NS,carcinoma,basal cell carcinoma c.893G>A p.R298Q 20:47633565-47633565 21
441 COSM6962996 NCOA3 skin,neck,carcinoma,NS c.979C>T p.H327Y 20:47634062-47634062 21
442 COSM6926876 NCOA3 skin,NS,carcinoma,basal cell carcinoma c.47G>A p.R16Q 20:47622294-47622294 21
443 COSM6953823 NCOA3 skin,NS,carcinoma,basal cell carcinoma c.2302C>T p.Q768* 20:47636688-47636688 21
444 COSM35624 MYCN skin,NS,carcinoma,basal cell carcinoma c.131C>T p.P44L 2:15942195-15942195 21
445 COSM6926817 MYC skin,NS,carcinoma,basal cell carcinoma c.1127C>T p.A376V 8:127740765-127740765 21
446 COSM6926756 MTOR skin,NS,carcinoma,basal cell carcinoma c.4229C>T p.P1410L 1:11199282-11199282 21
447 COSM6912886 MTOR skin,NS,carcinoma,basal cell carcinoma c.3418G>C p.D1140H 1:11212455-11212455 21
448 COSM4170532 MTOR skin,neck,carcinoma,NS c.3409G>A p.E1137K 1:11212464-11212464 21
449 COSM6951240 MTOR skin,NS,carcinoma,basal cell carcinoma c.2020T>A p.C674S 1:11238031-11238031 21
450 COSM261995 MGA skin,NS,carcinoma,basal cell carcinoma c.3724C>T p.R1242* 15:41729230-41729230 21
451 COSM6926854 MGA skin,NS,carcinoma,basal cell carcinoma c.7537C>T p.L2513F 15:41760521-41760521 21
452 COSM6953828 MED12 skin,NS,carcinoma,basal cell carcinoma c.2158G>A p.G720R 23:71125078-71125078 21
453 COSM6951285 MED12 skin,NS,carcinoma,basal cell carcinoma c.3896C>T p.S1299F 23:71130063-71130063 21
454 COSM6912956 MED12 skin,NS,carcinoma,basal cell carcinoma c.5658G>A p.M1886I 23:71137293-71137293 21
455 COSM6926847 MDM2 skin,NS,carcinoma,basal cell carcinoma c.1276C>T p.Q426* 12:68839631-68839631 21
456 COSM6926859 MAPK3 skin,NS,carcinoma,basal cell carcinoma c.796C>T p.Q266* 16:30117265-30117265 21
457 COSM516 KRAS skin,NS,carcinoma,basal cell carcinoma c.34G>T p.G12C 12:25245351-25245351 21
458 COSM521 KRAS skin,face,carcinoma,NS c.35G>A p.G12D 12:25245350-25245350 21
459 COSM6903505 KRAS skin,face,carcinoma,NS c.229G>A p.G77S 12:25227295-25227295 21
460 COSM6926841 KRAS skin,NS,carcinoma,basal cell carcinoma c.122G>A p.R41K 12:25227402-25227402 21
461 COSM6903500 KRAS skin,ear,carcinoma,NS c.5C>T p.T2I 12:25245380-25245380 21
462 COSM553 KRAS skin,NS,carcinoma,basal cell carcinoma c.182A>T p.Q61L 12:25227342-25227342 21
463 COSM6926846 KMT2D skin,NS,carcinoma,basal cell carcinoma c.3223C>T p.P1075S 12:49048748-49048748 21
464 COSM6909696 KMT2D skin,NS,carcinoma,basal cell carcinoma c.14302G>T p.E4768* 12:49026854-49026854 21
465 COSM6907251 KMT2D skin,NS,carcinoma,basal cell carcinoma c.15706G>A p.E5236K 12:49022048-49022048 21
466 COSM220680 KMT2D skin,NS,carcinoma,basal cell carcinoma c.12796C>T p.R4266* 12:49030958-49030958 21
467 COSM6926844 KMT2D skin,NS,carcinoma,basal cell carcinoma c.6893C>T p.P2298L 12:49040067-49040067 21
468 COSM6936919 KMT2D skin,NS,carcinoma,basal cell carcinoma c.10537C>T p.Q3513* 12:49033358-49033358 21
469 COSM6926813 KMT2C skin,NS,carcinoma,basal cell carcinoma c.6350C>T p.S2117F 7:152181510-152181510 21
470 COSM1087613 KMT2C skin,NS,carcinoma,basal cell carcinoma c.3899G>A p.R1300K 7:152205168-152205168 21
471 COSM6926811 KMT2C skin,NS,carcinoma,basal cell carcinoma c.6935C>T p.S2312F 7:152180925-152180925 21
472 COSM6912917 KMT2C skin,NS,carcinoma,basal cell carcinoma c.14138C>T p.P4713L 7:152145189-152145189 21
473 COSM6912919 KMT2C skin,NS,carcinoma,basal cell carcinoma c.12305C>T p.S4102F 7:152152926-152152926 21
474 COSM6962967 KMT2C skin,neck,carcinoma,NS c.11659C>T p.H3887Y 7:152158874-152158874 21
475 COSM6962983 KMT2A skin,neck,carcinoma,NS c.4377T>G p.C1459W 11:118488658-118488658 21
476 COSM6926781 KIT skin,NS,carcinoma,basal cell carcinoma c.2597G>A p.G866E 4:54736721-54736721 21
477 COSM75106 KDR skin,NS,carcinoma,basal cell carcinoma c.538G>A p.D180N 4:55114994-55114994 21
478 COSM6953780 KDR skin,NS,carcinoma,basal cell carcinoma c.383C>T p.S128F 4:55115387-55115387 21
479 COSM6926782 KDR skin,NS,carcinoma,basal cell carcinoma c.367T>G p.S123A 4:55115403-55115403 21
480 COSM6951279 KDM6A skin,NS,carcinoma,basal cell carcinoma c.748+2T>G p.? 23:45051804-45051804 21
481 COSM6072631 KDM5A skin,eye,carcinoma,NS c.973C>T p.P325S 12:354132-354132 21
482 COSM6912930 KDM5A skin,NS,carcinoma,basal cell carcinoma c.1912G>A p.E638K 12:328891-328891 21
483 COSM6926870 JAK3 skin,NS,carcinoma,basal cell carcinoma c.1448C>T p.S483F 19:17838384-17838384 21
484 COSM3099047 JAK3 skin,NS,carcinoma,basal cell carcinoma c.59C>T p.S20F 19:17844359-17844359 21
485 COSM6936904 JAK1 skin,NS,carcinoma,basal cell carcinoma c.160G>A p.E54K 1:64883322-64883322 21
486 COSM6953818 INSR skin,NS,carcinoma,basal cell carcinoma c.4036G>A p.G1346R 19:7117169-7117169 21
487 COSM6936929 INSR skin,NS,carcinoma,basal cell carcinoma c.4012G>T p.E1338* 19:7117193-7117193 21
488 COSM6912902 INPP4B skin,NS,carcinoma,basal cell carcinoma c.1084G>A p.D362N 4:142193184-142193184 21
489 COSM137413 INPP4B skin,NS,carcinoma,basal cell carcinoma c.407C>T p.P136L 4:142314728-142314728 21
490 COSM6926785 INPP4B skin,NS,carcinoma,basal cell carcinoma c.1462C>G p.P488A 4:142160459-142160459 21
491 COSM6982913 INPP4A skin,eye,carcinoma,NS c.407G>A p.G136E 2:98536148-98536148 21
492 COSM6912894 INPP4A skin,NS,carcinoma,basal cell carcinoma c.764C>T p.S255F 2:98539621-98539621 21
493 COSM6982909 IKBKE skin,eye,carcinoma,NS c.537C>A p.Y179* 1:206476359-206476359 21
494 COSM6912896 IDH1 skin,NS,carcinoma,basal cell carcinoma c.679T>G p.F227V 2:208243446-208243446 21
495 COSM6926764 IDH1 skin,NS,carcinoma,basal cell carcinoma c.1013G>A p.R338K 2:208239212-208239212 21
496 COSM6903477 HRAS skin,ear,carcinoma,NS c.47A>G p.K16R 11:534276-534276 21
497 COSM483 HRAS skin,NS,carcinoma,basal cell carcinoma c.35G>T p.G12V 11:534288-534288 21
498 COSM498 HRAS skin,face,carcinoma,NS c.182A>T p.Q61L 11:533874-533874 21
499 COSM490 HRAS skin,NS,carcinoma,basal cell carcinoma c.38G>A p.G13D 11:534285-534285 21
500 COSM6903493 HRAS skin,face,carcinoma,NS c.409T>G p.Y137D 11:533494-533494 21
501 COSM6903487 HRAS skin,face,carcinoma,NS c.205G>C p.D69H 11:533851-533851 21
502 COSM486 HRAS skin,NS,carcinoma,basal cell carcinoma c.37G>C p.G13R 11:534286-534286 21
503 COSM6926849 HNF1A skin,NS,carcinoma,basal cell carcinoma c.1207C>T p.L403F 12:120996640-120996640 21
504 COSM6438927 HGF skin,neck,carcinoma,NS c.974C>T p.P325L 7:81729671-81729671 21
505 COSM6926808 HGF skin,NS,carcinoma,basal cell carcinoma c.1492G>A p.G498R 7:81710196-81710196 21
506 COSM6926797 H3C2 skin,NS,carcinoma,basal cell carcinoma c.205C>T p.Q69* 6:26031856-26031856 21
507 COSM5385593 GRIN2A skin,NS,carcinoma,basal cell carcinoma c.4117G>A p.D1373N 16:9763427-9763427 21
508 COSM6936921 GREM1 skin,NS,carcinoma,basal cell carcinoma c.22G>A p.V8M 15:32730712-32730712 21
509 COSM6669552 GATA3 skin,NS,carcinoma,basal cell carcinoma c.668C>T p.P223L 10:8058731-8058731 21
510 COSM6933702 GATA2 skin,ear,carcinoma,NS c.1338C>G p.F446L 3:128481124-128481124 21
511 COSM3597304 FOXP1 skin,NS,carcinoma,basal cell carcinoma c.1876C>T p.P626S 3:70965903-70965903 21
512 COSM6936909 FOXP1 skin,NS,carcinoma,basal cell carcinoma c.1527G>A p.W509* 3:70976944-70976944 21
513 COSM6926768 FOXP1 skin,NS,carcinoma,basal cell carcinoma c.1138C>T p.P380S 3:70988002-70988002 21
514 COSM6951248 FOXP1 skin,NS,carcinoma,basal cell carcinoma c.1196C>T p.S399F 3:70977980-70977980 21
515 COSM6953806 FOXO1 skin,NS,carcinoma,basal cell carcinoma c.832C>T p.Q278* 13:40560659-40560659 21
516 COSM6936920 FLT3 skin,NS,carcinoma,basal cell carcinoma c.2431G>A p.D811N 13:28018577-28018577 21
517 COSM5542939 FLT1 skin,NS,carcinoma,basal cell carcinoma c.80C>T p.S27L 13:28467602-28467602 21
518 COSM6951264 FLT1 skin,NS,carcinoma,basal cell carcinoma c.3364C>T p.P1122S 13:28317520-28317520 21
519 COSM6962960 FGFR3 skin,neck,carcinoma,NS c.2421A>G p.*807W 4:1807262-1807262 21
520 COSM6962980 FGFR2 skin,neck,carcinoma,NS c.2234C>T p.S745F 10:121483765-121483765 21
521 COSM732369 FBXW7 skin,eye,carcinoma,NS c.535C>T p.R179C 4:152350091-152350091 21
522 COSM6926793 FAT1 skin,NS,carcinoma,basal cell carcinoma c.4064C>T p.P1355L 4:186636144-186636144 21
523 COSM1054163 FAT1 skin,NS,carcinoma,basal cell carcinoma c.7789C>T p.R2597* 4:186618797-186618797 21
524 COSM6926792 FAT1 skin,NS,carcinoma,basal cell carcinoma c.4064C>T p.P1355L 4:186636144-186636144 21
525 COSM4005729 FAT1 skin,NS,carcinoma,basal cell carcinoma c.46C>T p.Q16* 4:186709782-186709782 21
526 COSM6933704 FAT1 skin,ear,carcinoma,NS c.4810G>A p.G1604R 4:186628154-186628154 21
527 COSM6926790 FAT1 skin,NS,carcinoma,basal cell carcinoma c.11869C>T p.R3957C 4:186600132-186600132 21
528 COSM6912906 FAT1 skin,NS,carcinoma,basal cell carcinoma c.4323+2T>G p.? 4:186633682-186633682 21
529 COSM4981738 FAT1 skin,NS,carcinoma,basal cell carcinoma c.2527C>T p.Q843* 4:186707301-186707301 21
530 COSM6926788 FAT1 skin,NS,carcinoma,basal cell carcinoma c.12815C>T p.S4272F 4:186596725-186596725 21
531 COSM4981737 FAT1 skin,NS,carcinoma,basal cell carcinoma c.2527C>T p.Q843* 4:186707301-186707301 21
532 COSM6912905 FAT1 skin,NS,carcinoma,basal cell carcinoma c.4323+2T>G p.? 4:186633682-186633682 21
533 COSM6926789 FAT1 skin,NS,carcinoma,basal cell carcinoma c.12815C>T p.S4272F 4:186596725-186596725 21
534 COSM6926791 FAT1 skin,NS,carcinoma,basal cell carcinoma c.11869C>T p.R3957C 4:186600132-186600132 21
535 COSM4005728 FAT1 skin,NS,carcinoma,basal cell carcinoma c.46C>T p.Q16* 4:186709782-186709782 21
536 COSM6933703 FAT1 skin,ear,carcinoma,NS c.4810G>A p.G1604R 4:186628154-186628154 21
537 COSM1054161 FAT1 skin,NS,carcinoma,basal cell carcinoma c.7789C>T p.R2597* 4:186618797-186618797 21
538 COSM6953813 FANCA skin,NS,carcinoma,basal cell carcinoma c.4114G>A p.D1372N 16:89739186-89739186 21
539 COSM6951266 ERCC4 skin,NS,carcinoma,basal cell carcinoma c.949G>A p.E317K 16:13930866-13930866 21
540 COSM6912897 ERBB4 skin,NS,carcinoma,basal cell carcinoma c.2202+1G>A p.? 2:211623921-211623921 21
541 COSM6926765 ERBB4 skin,NS,carcinoma,basal cell carcinoma c.1223C>T p.P408L 2:211704170-211704170 21
542 COSM6926778 EPHB1 skin,NS,carcinoma,basal cell carcinoma c.2446G>A p.E816K 3:135241247-135241247 21
543 COSM6926799 EPHA7 skin,NS,carcinoma,basal cell carcinoma c.1927G>A p.E643K 6:93258282-93258282 21
544 COSM1723966 EPHA7 skin,NS,carcinoma,basal cell carcinoma c.1393G>A p.E465K 6:93272354-93272354 21
545 COSM6962962 EPHA7 skin,neck,carcinoma,NS c.2468G>A p.G823E 6:93254711-93254711 21
546 COSM4992793 EPHA7 skin,NS,carcinoma,basal cell carcinoma c.2059G>A p.G687R 6:93258150-93258150 21
547 COSM6926801 EPHA7 skin,NS,carcinoma,basal cell carcinoma c.1507A>G p.N503D 6:93269603-93269603 21
548 COSM1430547 EPHA5 skin,NS,carcinoma,basal cell carcinoma c.1658G>A p.R553Q 4:65414313-65414313 21
549 COSM6912901 EPHA5 skin,NS,carcinoma,basal cell carcinoma c.733G>A p.D245N 4:65601818-65601818 21
550 COSM6936911 EPHA5 skin,NS,carcinoma,basal cell carcinoma c.1021G>A p.D341N 4:65495433-65495433 21
551 COSM6953782 EPHA5 skin,NS,carcinoma,basal cell carcinoma c.881G>A p.G294E 4:65601670-65601670 21
552 COSM6866987 EPHA5 skin,NS,carcinoma,basal cell carcinoma c.2513G>A p.G838E 4:65348199-65348199 21
553 COSM6953783 EPHA5 skin,NS,carcinoma,basal cell carcinoma c.719T>G p.L240W 4:65601832-65601832 21
554 COSM6953781 EPHA5 skin,NS,carcinoma,basal cell carcinoma c.1823C>T p.S608F 4:65377031-65377031 21
555 COSM6926783 EPHA5 skin,NS,carcinoma,basal cell carcinoma c.2197C>T p.H733Y 4:65365056-65365056 21
556 COSM6926784 EPHA5 skin,NS,carcinoma,basal cell carcinoma c.2146A>G p.K716E 4:65365107-65365107 21
557 COSM5918388 EPHA5 skin,neck,carcinoma,NS c.2608G>A p.E870K 4:65348104-65348104 21
558 COSM6936910 EPHA5 skin,NS,carcinoma,basal cell carcinoma c.1318G>A p.E440K 4:65490461-65490461 21
559 COSM6926771 EPHA3 skin,NS,carcinoma,basal cell carcinoma c.1426G>A p.E476K 3:89395956-89395956 21
560 COSM6926773 EPHA3 skin,NS,carcinoma,basal cell carcinoma c.2182C>T p.R728* 3:89431195-89431195 21
561 COSM6962957 EPHA3 skin,neck,carcinoma,NS c.632T>A p.M211K 3:89210338-89210338 21
562 COSM6926769 EPHA3 skin,NS,carcinoma,basal cell carcinoma c.1061G>T p.R354L 3:89341845-89341845 21
563 COSM6926774 EPHA3 skin,NS,carcinoma,basal cell carcinoma c.2684C>T p.A895V 3:89450364-89450364 21
564 COSM4527016 EPHA3 skin,NS,carcinoma,basal cell carcinoma c.1435G>A p.E479K 3:89399321-89399321 21
565 COSM6946976 EPHA3 skin,neck,carcinoma,NS c.533G>A p.G178E 3:89210239-89210239 21
566 COSM6848800 DOT1L skin,NS,carcinoma,basal cell carcinoma c.3640C>T p.P1214S 19:2225431-2225431 21
567 COSM6949581 DOT1L skin,NS,carcinoma,basal cell carcinoma c.4292C>T p.A1431V 19:2226813-2226813 21
568 COSM6951274 DNMT1 skin,NS,carcinoma,basal cell carcinoma c.2128C>T p.P710S 19:10151487-10151487 21
569 COSM6912932 DICER1 skin,NS,carcinoma,basal cell carcinoma c.4798G>A p.E1600K 14:95096122-95096122 21
570 COSM6953808 DICER1 skin,NS,carcinoma,basal cell carcinoma c.421G>A p.E141K 14:95131526-95131526 21
571 COSM6926761 DDR2 skin,NS,carcinoma,basal cell carcinoma c.199G>A p.E67K 1:162754637-162754637 21
572 COSM6951243 DDR2 skin,NS,carcinoma,basal cell carcinoma c.1636G>A p.D546N 1:162772155-162772155 21
573 COSM3046519 CUL3 skin,NS,carcinoma,basal cell carcinoma c.1153C>T p.P385S 2:224506009-224506009 21
574 COSM5662 CTNNB1 skin,NS,carcinoma,basal cell carcinoma c.110C>T p.S37F 3:41224622-41224622 21
575 COSM6926767 CTNNB1 skin,NS,carcinoma,basal cell carcinoma c.1718G>T p.C573F 3:41235758-41235758 21
576 COSM6971612 CTNNB1 skin,eye,carcinoma,NS c.1420C>T p.R474* 3:41233763-41233763 21
577 COSM4007517 CSF3R skin,NS,carcinoma,basal cell carcinoma c.59C>T p.P20L 1:36479438-36479438 21
578 COSM6926873 CIC skin,NS,carcinoma,basal cell carcinoma c.2123G>A p.R708K 19:42290891-42290891 21
579 COSM12476 CDKN2A skin,NS,carcinoma,basal cell carcinoma c.341C>T p.P114L 9:21971018-21971018 21
580 COSM13828 CDKN2A skin,eye,carcinoma,NS c.149A>G p.Q50R 9:21974679-21974679 21
581 COSM13223 CDKN2A skin,face,carcinoma,NS c.151-1G>A p.? 9:21971209-21971209 21
582 COSM13496 CDKN2A skin,face,carcinoma,NS c.151G>A p.V51I 9:21971208-21971208 21
583 COSM12506 CDKN2A skin,face,carcinoma,NS c.148C>T p.Q50* 9:21974680-21974680 21
584 COSM6936925 CDK12 skin,NS,carcinoma,basal cell carcinoma c.64C>T p.Q22* 17:39462135-39462135 21
585 COSM6953814 CDK12 skin,NS,carcinoma,basal cell carcinoma c.1702C>T p.P568S 17:39471534-39471534 21
586 COSM1937734 CD276 skin,NS,carcinoma,basal cell carcinoma c.904G>A p.D302N 15:73703829-73703829 21
587 COSM3078946 CCND3 skin,NS,carcinoma,basal cell carcinoma c.848C>T p.T283I 6:41935971-41935971 21
588 COSM6962956 CASP8 skin,neck,carcinoma,NS c.1382C>T p.T461I 2:201286485-201286485 21
589 COSM3713589 CASP8 skin,neck,carcinoma,NS c.1093C>T p.L365F 2:201285055-201285055 21
590 COSM6912913 CARD11 skin,NS,carcinoma,basal cell carcinoma c.2698C>T p.L900F 7:2917295-2917295 21
591 COSM4549748 CARD11 skin,NS,carcinoma,basal cell carcinoma c.481G>A p.D161N 7:2944415-2944415 21
592 COSM4900080 BTK skin,eye,carcinoma,NS c.262G>A p.E88K 23:101371680-101371680 21
593 COSM6971615 BRIP1 skin,eye,carcinoma,NS c.1463C>T p.P488L 17:61793607-61793607 21
594 COSM6909698 BRCA2 skin,NS,carcinoma,basal cell carcinoma c.4382C>T p.S1461F 13:32338737-32338737 21
595 COSM6926839 BIRC3 skin,NS,carcinoma,basal cell carcinoma c.1604C>T p.P535L 11:102336784-102336784 21
596 COSM6953825 BCOR skin,NS,carcinoma,basal cell carcinoma c.4519G>A p.D1507N 23:40055488-40055488 21
597 COSM6971610 BARD1 skin,eye,carcinoma,NS c.722C>T p.S241F 2:214781152-214781152 21
598 COSM6912900 BARD1 skin,NS,carcinoma,basal cell carcinoma c.1879G>A p.G627R 2:214745091-214745091 21
599 COSM6912954 AXL skin,NS,carcinoma,basal cell carcinoma c.1652C>T p.S551F 19:41248788-41248788 21
600 COSM6926878 AURKA skin,NS,carcinoma,basal cell carcinoma c.260C>T p.P87L 20:56386316-56386316 21
601 COSM6909699 ATRX skin,NS,carcinoma,basal cell carcinoma c.5389G>T p.V1797F 23:77618865-77618865 21
602 COSM21323 ATM skin,neck,carcinoma,NS c.1009C>T p.R337C 11:108247071-108247071 21
603 COSM173211 ATM skin,NS,carcinoma,basal cell carcinoma c.748C>T p.R250* 11:108244873-108244873 21
604 COSM1235406 ATM skin,NS,carcinoma,basal cell carcinoma c.7466C>T p.S2489F 11:108330372-108330372 21
605 COSM6926763 ASXL2 skin,NS,carcinoma,basal cell carcinoma c.1121C>T p.S374L 2:25744436-25744436 21
606 COSM6926842 ARID2 skin,NS,carcinoma,basal cell carcinoma c.705+1G>A p.? 12:45821488-45821488 21
607 COSM6926807 ARID1B skin,NS,carcinoma,basal cell carcinoma c.3433C>T p.P1145S 6:157184372-157184372 21
608 COSM6909693 ARID1A skin,NS,carcinoma,basal cell carcinoma c.5834C>T p.P1945L 1:26779732-26779732 21
609 COSM6912887 ARID1A skin,NS,carcinoma,basal cell carcinoma c.1954G>A p.G652R 1:26760889-26760889 21
610 COSM6924342 ARID1A skin,NS,carcinoma,basal cell carcinoma c.3406+2T>A p.? 1:26771328-26771328 21
611 COSM6951281 ARAF skin,NS,carcinoma,basal cell carcinoma c.3G>T p.M1I 23:47562970-47562970 21
612 COSM3562855 AR skin,NS,carcinoma,basal cell carcinoma c.712G>A p.E238K 23:67545858-67545858 21
613 COSM6921907 AR skin,NS,carcinoma,basal cell carcinoma c.1117G>A p.G373R 23:67546263-67546263 21
614 COSM6982919 AR skin,eye,carcinoma,NS c.1883G>A p.G628E 23:67686124-67686124 21
615 COSM6950941 APC skin,neck,carcinoma,NS c.536C>T p.S179F 5:112780794-112780794 21
616 COSM1432255 APC skin,eye,carcinoma,NS c.3367C>T p.Q1123* 5:112838961-112838961 21
617 COSM1059567 APC skin,NS,carcinoma,basal cell carcinoma c.2185C>T p.L729F 5:112837779-112837779 21
618 COSM6912911 APC skin,NS,carcinoma,basal cell carcinoma c.518C>T p.P173L 5:112775724-112775724 21
619 COSM6953812 ANKRD11 skin,NS,carcinoma,basal cell carcinoma c.4070C>T p.S1357F 16:89282472-89282472 21
620 COSM6951283 AMER1 skin,NS,carcinoma,basal cell carcinoma c.979G>A p.G327S 23:64192308-64192308 21
621 COSM6951246 AKT3 skin,NS,carcinoma,basal cell carcinoma c.617C>T p.P206L 1:243615106-243615106 21
622 COSM6962953 AKT3 skin,neck,carcinoma,NS c.1164-1G>A p.? 1:243545598-243545598 21
623 COSM6912952 AKT2 skin,NS,carcinoma,basal cell carcinoma c.1255C>T p.Q419* 19:40235271-40235271 21
624 COSM1600318 skin,ear,carcinoma,NS c.702C>A p.Y234* 17:7674261-7674261 21
625 COSM5937391 skin,NS,carcinoma,basal cell carcinoma c.1726C>T p.Q576* 9:95476036-95476036 21
626 COSM6172264 skin,NS,carcinoma,basal cell carcinoma c.379C>T p.P127S 6:106095702-106095702 21
627 COSM6953810 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 21
628 COSM6962993 skin,neck,carcinoma,NS c.1619G>A p.G540E 20:42352227-42352227 21
629 COSM6971616 skin,eye,carcinoma,NS c.1463C>T p.P488L 17:61793607-61793607 21
630 COSM3675533 skin,face,carcinoma,NS c.375+1G>A p.? 17:7675993-7675993 21
631 COSM6912955 skin,NS,carcinoma,basal cell carcinoma c.5658G>A p.M1886I 23:71137293-71137293 21
632 COSM6982920 skin,eye,carcinoma,NS c.287G>A p.G96E 23:67686124-67686124 21
633 COSM99602 skin,neck,carcinoma,NS c.743G>A p.R248Q 17:7674220-7674220 21
634 COSM6903620 skin,face,carcinoma,NS c.3154A>C p.T1052P 9:136508887-136508887 21
635 COSM6921908 skin,NS,carcinoma,basal cell carcinoma c.547G>A p.G183R 23:67546263-67546263 21
636 COSM6912895 skin,NS,carcinoma,basal cell carcinoma c.764C>T p.S255F 2:98539621-98539621 21
637 COSM6912951 skin,NS,carcinoma,basal cell carcinoma c.3083C>T p.P1028L 19:15242986-15242986 21
638 COSM6926816 skin,NS,carcinoma,basal cell carcinoma c.1172C>T p.A391V 8:127740765-127740765 21
639 COSM6926837 skin,NS,carcinoma,basal cell carcinoma c.1031C>T p.P344L 11:64365425-64365425 21
640 COSM6951254 skin,NS,carcinoma,basal cell carcinoma c.785T>A p.L262* 9:95480550-95480550 21
641 COSM139044 skin,face,carcinoma,NS c.832C>T p.P278S 17:7673788-7673788 21
642 COSM6903568 skin,face,carcinoma,NS c.1486A>G p.S496G 9:136517341-136517341 21
643 COSM6951257 skin,NS,carcinoma,basal cell carcinoma c.782T>A p.L261* 9:95480550-95480550 21
644 COSM99667 skin,face,carcinoma,NS c.307C>T p.R103* 17:7674945-7674945 21
645 COSM139811 skin,face,carcinoma,NS c.2468-1G>A p.? 9:136511272-136511272 21
646 COSM2744631 skin,NS,carcinoma,basal cell carcinoma c.713G>T p.C238F 17:7674250-7674250 21
647 COSM3701293 skin,face,carcinoma,NS c.706T>C p.Y236H 17:7674257-7674257 21
648 COSM5542940 skin,NS,carcinoma,basal cell carcinoma c.80C>T p.S27L 13:28467602-28467602 21
649 COSM6985419 skin,eye,carcinoma,NS c.149A>G p.Q50R 9:21974679-21974679 21
650 COSM1640830 skin,neck,carcinoma,NS c.743G>A p.R248Q 17:7674220-7674220 21
651 COSM3388183 skin,NS,carcinoma,basal cell carcinoma c.742C>T p.R248W 17:7674221-7674221 21
652 COSM5047027 skin,ear,carcinoma,NS c.702C>A p.Y234* 17:7674261-7674261 21
653 COSM6903516 skin,face,carcinoma,NS c.199C>T p.P67S 9:136523921-136523921 21
654 COSM6926806 skin,NS,carcinoma,basal cell carcinoma c.3487C>T p.P1163S 6:157184372-157184372 21
655 COSM5752722 skin,face,carcinoma,NS c.714T>A p.C238* 17:7674249-7674249 21
656 COSM6903530 skin,ear,carcinoma,NS c.866-2A>C p.? 9:136518826-136518826 21
657 COSM6953802 skin,NS,carcinoma,basal cell carcinoma c.1339C>T p.P447S 9:136517854-136517854 21
658 COSM3562856 skin,NS,carcinoma,basal cell carcinoma c.142G>A p.E48K 23:67545858-67545858 21
659 COSM6903694 skin,face,carcinoma,NS c.4355C>T p.P1452L 9:136505541-136505541 21
660 COSM6936927 skin,NS,carcinoma,basal cell carcinoma c.286-1G>A p.? 17:42291971-42291971 21
661 COSM6962972 skin,neck,carcinoma,NS c.1727G>A p.S576N 9:8504347-8504347 21
662 COSM3403263 skin,NS,carcinoma,basal cell carcinoma c.713G>T p.C238F 17:7674250-7674250 21
663 COSM6912929 skin,NS,carcinoma,basal cell carcinoma c.1912G>A p.E638K 12:328891-328891 21
664 COSM1739746 skin,NS,carcinoma,basal cell carcinoma c.7466C>T p.S2489F 11:108330372-108330372 21
665 COSM6982912 skin,eye,carcinoma,NS c.407G>A p.G136E 2:98536148-98536148 21
666 COSM1646810 skin,face,carcinoma,NS c.832C>T p.P278S 17:7673788-7673788 21
667 COSM1679494 skin,NS,carcinoma,basal cell carcinoma c.772G>A p.E258K 17:7674191-7674191 21
668 COSM6909697 skin,NS,carcinoma,basal cell carcinoma c.4382C>T p.S1461F 13:32338737-32338737 21
669 COSM6912957 skin,NS,carcinoma,basal cell carcinoma c.5658G>A p.M1886I 23:71137293-71137293 21
670 COSM6926856 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 21
671 COSM6962978 skin,neck,carcinoma,NS c.2237C>T p.S746F 10:121483765-121483765 21
672 COSM6985418 skin,eye,carcinoma,NS c.149A>G p.Q50R 9:21974679-21974679 21
673 COSM99624 skin,NS,carcinoma,basal cell carcinoma c.713G>T p.C238F 17:7674250-7674250 21
674 COSM5989694 skin,NS,carcinoma,basal cell carcinoma c.4045C>T p.R1349W 9:95447208-95447208 21
675 COSM6903618 skin,face,carcinoma,NS c.3055C>T p.Q1019* 9:136508986-136508986 21
676 COSM6962995 skin,neck,carcinoma,NS c.1607C>T p.S536L 20:42352239-42352239 21
677 COSM6903796 skin,face,carcinoma,NS c.7503G>C p.Q2501H 9:136496236-136496236 21
678 COSM6926787 skin,NS,carcinoma,basal cell carcinoma c.1462C>G p.P488A 4:142160459-142160459 21
679 COSM99665 skin,face,carcinoma,NS c.586C>T p.R196* 17:7674945-7674945 21
680 COSM6926830 skin,NS,carcinoma,basal cell carcinoma c.584+1G>A p.? 9:95485684-95485684 21
681 COSM1600319 skin,ear,carcinoma,NS c.702C>A p.Y234* 17:7674261-7674261 21
682 COSM1640831 skin,face,carcinoma,NS c.742C>T p.R248W 17:7674221-7674221 21
683 COSM3395759 skin,face,carcinoma,NS c.148C>T p.Q50* 9:21974680-21974680 21
684 COSM6949580 skin,NS,carcinoma,basal cell carcinoma c.4292C>T p.A1431V 19:2226813-2226813 21
685 COSM6903556 skin,ear,carcinoma,NS c.1289T>A p.I430N 9:136517904-136517904 21
686 COSM6912928 skin,NS,carcinoma,basal cell carcinoma c.1344+1G>A p.? 9:95478054-95478054 21
687 COSM6926825 skin,NS,carcinoma,basal cell carcinoma c.1774G>A p.G592S 9:8504309-8504309 21
688 COSM1350749 skin,neck,carcinoma,NS c.1009C>T p.R337C 11:108247071-108247071 21
689 COSM3701296 skin,face,carcinoma,NS c.427T>C p.Y143H 17:7674257-7674257 21
690 COSM6912953 skin,NS,carcinoma,basal cell carcinoma c.1679C>T p.S560F 19:41248788-41248788 21
691 COSM753742 skin,NS,carcinoma,basal cell carcinoma c.507C>T p.A169A 9:21971018-21971018 21
692 COSM6903738 skin,face,carcinoma,NS c.5065T>C p.S1689P 9:136503284-136503284 21
693 COSM6903967 skin,ear,carcinoma,NS c.988C>T p.L330F 17:7673540-7673540 21
694 COSM6962951 skin,neck,carcinoma,NS c.1164-1G>A p.? 1:243545598-243545598 21
695 COSM1087612 skin,NS,carcinoma,basal cell carcinoma c.3899G>A p.R1300K 7:152205168-152205168 21
696 COSM6903704 skin,face,carcinoma,NS c.4417G>A p.G1473S 9:136505479-136505479 21
697 COSM1700913 skin,neck,carcinoma,NS c.1261C>T p.P421S 9:8518130-8518130 21
698 COSM2744975 skin,face,carcinoma,NS c.375+1G>A p.? 17:7675993-7675993 21
699 COSM6953819 skin,NS,carcinoma,basal cell carcinoma c.4036G>A p.G1346R 19:7117169-7117169 21
700 COSM120006 skin,face,carcinoma,NS c.463C>T p.R155W 17:7674221-7674221 21
701 COSM1700915 skin,neck,carcinoma,NS c.1252C>T p.P418S 9:8518130-8518130 21
702 COSM2813735 skin,NS,carcinoma,basal cell carcinoma c.3574C>T p.R1192C 19:11033317-11033317 21
703 COSM6951267 skin,NS,carcinoma,basal cell carcinoma c.67G>A p.E23K 16:81786056-81786056 21
704 COSM6962982 skin,neck,carcinoma,NS c.4377T>G p.C1459W 11:118488658-118488658 21
705 COSM3388175 skin,ear,carcinoma,NS c.796G>A p.G266R 17:7673824-7673824 21
706 COSM3403258 skin,ear,carcinoma,NS c.764T>G p.I255S 17:7674199-7674199 21
707 COSM4906064 skin,NS,carcinoma,basal cell carcinoma c.407C>T p.P136L 4:142314728-142314728 21
708 COSM6903598 skin,face,carcinoma,NS c.2578G>A p.G860S 9:136511161-136511161 21
709 COSM6903966 skin,ear,carcinoma,NS c.988C>T p.L330F 17:7673540-7673540 21
710 COSM6903919 skin,face,carcinoma,NS c.260C>A p.P87Q 17:7676109-7676109 21
711 COSM6912916 skin,NS,carcinoma,basal cell carcinoma c.14309C>T p.P4770L 7:152145189-152145189 21
712 COSM129830 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 17:7673781-7673781 21
713 COSM6903499 skin,ear,carcinoma,NS c.5C>T p.T2I 12:25245380-25245380 21
714 COSM6903632 skin,face,carcinoma,NS c.3394C>T p.R1132C 9:136508071-136508071 21
715 COSM1172462 skin,NS,carcinoma,basal cell carcinoma c.772G>A p.E258K 17:7674191-7674191 21
716 COSM3522695 skin,face,carcinoma,NS c.722C>T p.S241F 17:7674241-7674241 21
717 COSM5610129 skin,NS,carcinoma,basal cell carcinoma c.2131C>T p.P711S 9:8499838-8499838 21
718 COSM127094 skin,face,carcinoma,NS c.317-1G>A p.? 9:21971209-21971209 21
719 COSM254987 skin,eye,carcinoma,NS c.839G>C p.R280T 17:7673781-7673781 21
720 COSM6903763 skin,face,carcinoma,NS c.5932C>T p.Q1978* 9:136500554-136500554 21
721 COSM6953787 skin,NS,carcinoma,basal cell carcinoma c.4885-1G>A p.? 6:117341312-117341312 21
722 COSM6962950 skin,neck,carcinoma,NS c.430C>T p.P144S 1:77966737-77966737 21
723 COSM99626 skin,NS,carcinoma,basal cell carcinoma c.713G>T p.C238F 17:7674250-7674250 21
724 COSM1700912 skin,neck,carcinoma,NS c.1261C>T p.P421S 9:8518130-8518130 21
725 COSM6926872 skin,NS,carcinoma,basal cell carcinoma c.1448C>T p.S483F 19:17838384-17838384 21
726 COSM6962991 skin,neck,carcinoma,NS c.1369C>T p.P457S 17:40356221-40356221 21
727 COSM99020 skin,neck,carcinoma,NS c.743G>A p.R248Q 17:7674220-7674220 21
728 COSM1637748 skin,ear,carcinoma,NS c.764T>G p.I255S 17:7674199-7674199 21
729 COSM5989695 skin,NS,carcinoma,basal cell carcinoma c.4045C>T p.R1349W 9:95447208-95447208 21
730 COSM6926848 skin,NS,carcinoma,basal cell carcinoma c.1276C>T p.Q426* 12:68839631-68839631 21
731 COSM99021 skin,neck,carcinoma,NS c.464G>A p.R155Q 17:7674220-7674220 21
732 COSM1228951 skin,NS,carcinoma,basal cell carcinoma c.2636C>T p.S879L 10:68645365-68645365 21
733 COSM3723938 skin,ear,carcinoma,NS c.824G>T p.C275F 17:7673796-7673796 21
734 COSM3928055 skin,NS,carcinoma,basal cell carcinoma c.3088C>T p.R1030* 6:117365075-117365075 21
735 COSM4271777 skin,NS,carcinoma,basal cell carcinoma c.772G>A p.E258K 17:7674191-7674191 21
736 COSM6962979 skin,neck,carcinoma,NS c.1967C>T p.S656F 10:121483765-121483765 21
737 COSM6982921 skin,eye,carcinoma,NS c.1313G>A p.G438E 23:67686124-67686124 21
738 COSM6924343 skin,NS,carcinoma,basal cell carcinoma c.536C>T p.P179L 19:1220444-1220444 21
739 COSM6937551 skin,eye,carcinoma,NS c.859G>C p.E287Q 17:7673761-7673761 21
740 COSM6971609 skin,eye,carcinoma,NS c.722C>T p.S241F 2:214781152-214781152 21
741 COSM3378446 skin,face,carcinoma,NS c.586C>T p.R196* 17:7674945-7674945 21
742 COSM6903494 skin,face,carcinoma,NS c.409T>G p.Y137D 11:533494-533494 21
743 COSM6912941 skin,NS,carcinoma,basal cell carcinoma c.463G>A p.D155N 19:10986296-10986296 21
744 COSM6936930 skin,NS,carcinoma,basal cell carcinoma c.4012G>T p.E1338* 19:7117193-7117193 21
745 COSM6951242 skin,NS,carcinoma,basal cell carcinoma c.1636G>A p.D546N 1:162772155-162772155 21
746 COSM6962952 skin,neck,carcinoma,NS c.1164-1G>A p.? 1:243545598-243545598 21
747 COSM1640847 skin,face,carcinoma,NS c.586C>T p.R196* 17:7674945-7674945 21
748 COSM6903921 skin,face,carcinoma,NS c.260C>A p.P87Q 17:7676109-7676109 21
749 COSM6912940 skin,NS,carcinoma,basal cell carcinoma c.2827C>T p.L943F 19:5222953-5222953 21
750 COSM6953796 skin,NS,carcinoma,basal cell carcinoma c.933A>G p.I311M 9:8521296-8521296 21
751 COSM6962969 skin,neck,carcinoma,NS c.1736G>A p.S579N 9:8504347-8504347 21
752 COSM6937553 skin,eye,carcinoma,NS c.859G>C p.E287Q 17:7673761-7673761 21
753 COSM6962971 skin,neck,carcinoma,NS c.1706G>A p.S569N 9:8504347-8504347 21
754 COSM1151204 skin,eye,carcinoma,NS c.901C>T p.R301C 9:125149801-125149801 21
755 COSM1172461 skin,NS,carcinoma,basal cell carcinoma c.772G>A p.E258K 17:7674191-7674191 21
756 COSM1490144 skin,neck,carcinoma,NS c.3830C>T p.S1277F 9:8341168-8341168 21
757 COSM99666 skin,face,carcinoma,NS c.190C>T p.R64* 17:7674945-7674945 21
758 COSM120007 skin,face,carcinoma,NS c.742C>T p.R248W 17:7674221-7674221 21
759 COSM5047026 skin,ear,carcinoma,NS c.702C>A p.Y234* 17:7674261-7674261 21
760 COSM5884807 skin,face,carcinoma,NS c.4156C>A p.P1386T 9:136505740-136505740 21
761 COSM6903688 skin,face,carcinoma,NS c.4309G>A p.G1437R 9:136505587-136505587 21
762 COSM6962959 skin,neck,carcinoma,NS c.2427A>G p.*809W 4:1807262-1807262 21
763 COSM6962981 skin,neck,carcinoma,NS c.2228C>T p.S743F 10:121483765-121483765 21
764 COSM1640851 skin,NS,carcinoma,basal cell carcinoma c.524G>A p.R175H 17:7675088-7675088 21
765 COSM3092257 skin,NS,carcinoma,basal cell carcinoma c.341C>T p.P114L 9:21971018-21971018 21
766 COSM4646622 skin,NS,carcinoma,basal cell carcinoma c.2713C>T p.R905W 19:5223082-5223082 21
767 COSM6903488 skin,face,carcinoma,NS c.205G>C p.D69H 11:533851-533851 21
768 COSM6903600 skin,face,carcinoma,NS c.2609T>C p.I870T 9:136510784-136510784 21
769 COSM6951278 skin,NS,carcinoma,basal cell carcinoma c.748+2T>G p.? 23:45051804-45051804 21
770 COSM6903702 skin,face,carcinoma,NS c.4417G>T p.G1473C 9:136505479-136505479 21
771 COSM6912920 skin,NS,carcinoma,basal cell carcinoma c.2979A>C p.K993N 9:8485838-8485838 21
772 COSM6912924 skin,NS,carcinoma,basal cell carcinoma c.3755A>T p.Q1252L 9:95449115-95449115 21
773 COSM6912926 skin,NS,carcinoma,basal cell carcinoma c.1347+1G>A p.? 9:95478054-95478054 21
774 COSM6926812 skin,NS,carcinoma,basal cell carcinoma c.6350C>T p.S2117F 7:152181510-152181510 21
775 COSM2936618 skin,NS,carcinoma,basal cell carcinoma c.404C>T p.P135L 22:29642242-29642242 21
776 COSM6926760 skin,NS,carcinoma,basal cell carcinoma c.199G>A p.E67K 1:162754637-162754637 21
777 COSM6926762 skin,NS,carcinoma,basal cell carcinoma c.1901C>T p.S634L 2:25744436-25744436 21
778 COSM6926819 skin,NS,carcinoma,basal cell carcinoma c.4162G>A p.D1388N 9:8331736-8331736 21
779 COSM6926828 skin,NS,carcinoma,basal cell carcinoma c.1765G>A p.G589S 9:8504309-8504309 21
780 COSM6951258 skin,NS,carcinoma,basal cell carcinoma c.689G>A p.G230E 9:136522903-136522903 21
781 COSM6903720 skin,face,carcinoma,NS c.4546T>G p.F1516V 9:136505350-136505350 21
782 COSM6909695 skin,NS,carcinoma,basal cell carcinoma c.15112G>T p.E5038* 12:49026854-49026854 21
783 COSM3546516 skin,NS,carcinoma,basal cell carcinoma c.2083C>T p.L695F 20:42315779-42315779 21
784 COSM4782284 skin,NS,carcinoma,basal cell carcinoma c.326T>C p.F109S 17:7676043-7676043 21
785 COSM6962966 skin,neck,carcinoma,NS c.11659C>T p.H3887Y 7:152158874-152158874 21
786 COSM753743 skin,NS,carcinoma,basal cell carcinoma c.341C>T p.P114L 9:21971018-21971018 21
787 COSM5939960 <