BRSS
MCID: BRK001
MIFTS: 47

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 58 12 54 26 60 76 38 15 74
Spiegler-Brooke Syndrome 58 54 26 76 30 13 6 41
Brss 58 54 26 76
Sbs 58 54 76
Bss 58 26 76
Ancell-Spiegler Cylindromas 54 74
Spiegler-Brooke Syndrome; Sbs 58
Carcinoma, Skin Appendage 45
Eccrine Dermal Cylindroma 74
Skin Appendage Carcinoma 17
Schilbach-Rott Syndrome 74
Cyld Cutaneous Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
brooke-spiegler syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
brooke-spiegler syndrome:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0050693
OMIM 58 605041
KEGG 38 H00827
MeSH 45 D018280
MESH via Orphanet 46 C536611
UMLS via Orphanet 75 C1857941
Orphanet 60 ORPHA79493
MedGen 43 C1857941

Summaries for Brooke-Spiegler Syndrome

NIH Rare Diseases : 54 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.

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. Affiliated tissues include skin, salivary gland and liver, 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.

Genetics Home Reference : 26 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.

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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 : 77 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 122, show less)
# Related Disease Score Top Affiliating Genes
1 spiradenoma 30.9 CYLD KRT14
2 basal cell carcinoma 30.3 CYLD KRT8 PTCH1
3 bernard-soulier syndrome 12.1
4 basal cell carcinoma 1 11.8
5 cylindromatosis, familial 11.8
6 barber-say syndrome 11.8
7 sick building syndrome 11.6
8 schilbach-rott syndrome 11.5
9 short bowel syndrome 11.5
10 camptocormism 11.5
11 neural tube defects 11.4
12 shaken baby syndrome 11.4
13 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 11.4
14 brown-sequard syndrome 11.3
15 cowden syndrome 1 11.1
16 congenital short bowel syndrome 11.1
17 blood group, gerbich system 10.8
18 multiple familial trichoepithelioma 10.6
19 trichoepithelioma, multiple familial, 1 10.4
20 malignant cylindroma 10.4
21 bronchitis 10.4
22 neurofibromatosis, type i 10.3
23 neurofibromatosis, type iv, of riccardi 10.3
24 pulmonary disease, chronic obstructive 10.3
25 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
26 sinusitis 10.3
27 lymphoma 10.3
28 adenoid cystic carcinoma 10.3
29 syringoma 10.3
30 psoriasis 10.3
31 retinoblastoma 10.2
32 endophthalmitis 10.2
33 blood group, junior system 10.2
34 intraocular pressure quantitative trait locus 10.2
35 intestinal schistosomiasis 10.1
36 schistosomiasis 10.1
37 isolated optic neuritis 10.1
38 glaucoma-related pigment dispersion syndrome 10.1
39 acute insulin response 10.1
40 common cold 10.1
41 horns in sheep 10.0
42 pigmented basal cell carcinoma 10.0 KRT14 PTCH1
43 sweat gland disease 10.0 CYLD KRT14
44 hepatocellular carcinoma 10.0
45 multiple sclerosis 10.0
46 rheumatoid arthritis 10.0
47 cystic fibrosis 10.0
48 aging 10.0
49 asthma 10.0
50 pemphigus foliaceus 10.0
51 bone resorption disease 10.0
52 melanoma 10.0
53 tonsil cancer 9.9 CYLD KRT14
54 calcifying epithelial odontogenic tumor 9.9 KRT8 PTCH1
55 breast cancer 9.8
56 esophageal cancer 9.8
57 ige responsiveness, atopic 9.8
58 ovarian cancer 9.8
59 scoliosis, isolated 1 9.8
60 smith-magenis syndrome 9.8
61 disorganization, mouse, homolog of 9.8
62 osteogenic sarcoma 9.8
63 sudden infant death syndrome 9.8
64 short stature, idiopathic, x-linked 9.8
65 melnick-needles syndrome 9.8
66 intervertebral disc disease 9.8
67 orthostatic intolerance 9.8
68 anxiety 9.8
69 aplastic anemia 9.8
70 malaria 9.8
71 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.8
72 pulmonary hypertension, primary, 4 9.8
73 acute lymphocytic leukemia 9.8
74 arthritis 9.8
75 brain injury 9.8
76 cutaneous leishmaniasis 9.8
77 diabetes mellitus 9.8
78 leukemia 9.8
79 liver disease 9.8
80 thalassemia 9.8
81 traumatic brain injury 9.8
82 chlamydia pneumonia 9.8
83 chronic venous insufficiency 9.8
84 scoliosis 9.8
85 idiopathic scoliosis 9.8
86 thrombosis 9.8
87 nonalcoholic fatty liver disease 9.8
88 venous insufficiency 9.8
89 lymphocytic leukemia 9.8
90 japanese encephalitis 9.8
91 chlamydia 9.8
92 coronary thrombosis 9.8
93 complex regional pain syndrome 9.8
94 ischemia 9.8
95 rhinitis 9.8
96 ulnar neuropathy 9.8
97 lung disease 9.8
98 neuropathy 9.8
99 learning disability 9.8
100 leishmaniasis 9.8
101 allergic asthma 9.8
102 fatty liver disease 9.8
103 hypertrophic cardiomyopathy 9.8
104 acute respiratory distress syndrome 9.8
105 bowenoid papulosis 9.8
106 haemophilus influenzae 9.8
107 primary orthostatic tremor 9.8
108 streptococcal group a invasive disease 9.8
109 cervical clear cell adenocarcinoma 9.8 KRT14 KRT8
110 odontoma 9.8 KRT14 KRT8
111 pregnancy adenoma 9.8 KRT14 KRT8
112 basaloid squamous cell carcinoma 9.8 KRT14 KRT8
113 intraneural perineurioma 9.7 KRT14 KRT8
114 breast fibroadenoma 9.7 KRT14 KRT8
115 primary cutaneous amyloidosis 9.7 KRT14 KRT8
116 sweat gland cancer 9.7 KRT14 KRT8
117 craniopharyngioma 9.7 KRT14 KRT8
118 ductal carcinoma in situ 9.6 KRT14 KRT8
119 melanoma, uveal 9.6 BAP1 KRT8
120 apocrine sweat gland neoplasm 9.5 CYLD KRT14 KRT8
121 ameloblastoma 9.5 KRT14 KRT8 PTCH1
122 papilloma 9.4 KRT14 KRT8

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:

33 (showing 2, show less)
# Description HPO Frequency HPO Source Accession
1 neoplasm 33 HP:0002664
2 milia 33 HP:0001056

Symptoms via clinical synopsis from OMIM:

58
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:

47 (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

Search Clinical Trials , 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 30 CYLD

Anatomical Context for Brooke-Spiegler Syndrome

MalaCards organs/tissues related to Brooke-Spiegler Syndrome:

42
Skin, Salivary Gland, Liver, Brain, Bone, Breast, Bone Marrow

Publications for Brooke-Spiegler Syndrome

Articles related to Brooke-Spiegler Syndrome:

(showing 85, show less)
# Title Authors Year
1
Brooke-Spiegler syndrome with chronic obstructive pulmonary disease and chronic sinusitis. ( 30628115 )
2019
2
Trichoblastic carcinoma arising in trichoepithelioma in Brooke-Spiegler syndrome. ( 30971565 )
2019
3
CYLD mutations differentially affect splicing and mRNA decay in Brooke-Spiegler syndrome. ( 29478249 )
2018
4
Turban Tumor: A Classical Presentation of Brooke-Spiegler Syndrome. ( 30050828 )
2018
5
Brooke-Spiegler Syndrome. ( 30093932 )
2018
6
A rare case of Brooke-Spiegler syndrome: integrated surgical treatment of multiple giant eccrine spiradenomas of the head and neck in a young girl. ( 30241087 )
2018
7
Brooke-Spiegler Syndrome: Two Patients From a Turkish Family With Multiple Familial Trichoepithelioma. ( 30252697 )
2018
8
Sporadic Trichoblastomas and Those Occurring in the Setting of Multiple Familial Trichoepithelioma/Brooke-Spiegler Syndrome Show No BAP1 Loss. ( 28098597 )
2017
9
A Simple and Effective Method for Treating Cylindromas in Brooke-Spiegler Syndrome. ( 28388989 )
2017
10
Brooke-Spiegler syndrome: focus on reflectance confocal microscopy findings of trichoepithelioma and flat cylindroma. ( 28976013 )
2017
11
A novel CYLD gene mutation and multiple basal cell carcinomas in a patient with Brooke-Spiegler syndrome. ( 25976026 )
2016
12
Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation. ( 26329847 )
2016
13
A case of Brooke-Spiegler syndrome with a novel mutation in the CYLD gene in a patient with aggressive non-Hodgkin's lymphoma. ( 26660106 )
2016
14
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. ( 26861065 )
2016
15
Brooke-Spiegler Syndrome and Phenotypic Variants: An Update. ( 26971504 )
2016
16
Basal Cell Carcinoma in a Patient With Brooke-Spiegler Syndrome. ( 26861436 )
2015
17
A novel CYLD germline mutation in Brooke-Spiegler syndrome. ( 25131725 )
2015
18
Brooke-Spiegler syndrome clinically misdiagnosed as neurofibromatosis type 1. ( 25502717 )
2015
19
CYLD GeneticTesting for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas. ( 25737804 )
2015
20
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. ( 25995191 )
2015
21
Malignant cylindroma in a patient with Brooke-Spiegler syndrome. ( 26114054 )
2015
22
Brooke-Spiegler Syndrome - an underrecognized cause of multiple familial scalp tumors: report of a new germline mutation. ( 26512302 )
2015
23
Atypical adnexal tumors adjacent to basal cell carcinoma: a difficult problem in patients with Brooke-Spiegler syndrome undergoing Mohs surgery. ( 24372646 )
2014
24
Brooke-Spiegler syndrome tumor spectrum beyond the skin: a patient carrying germline R936X CYLD mutation and a somatic CYLD mutation in Brenner tumor. ( 24559443 )
2014
25
Brooke-spiegler syndrome: a rare entity. ( 24587929 )
2014
26
Syndrome in question. Brooke-Spiegler syndrome. ( 24626672 )
2014
27
Late-onset Brooke-Spiegler syndrome with family histories of various cancers. ( 24628357 )
2014
28
Large germline deletions of the CYLD gene in patients with Brooke-Spiegler syndrome and multiple familial trichoepithelioma. ( 25347032 )
2014
29
Enucleation of cylindromas in Brooke-Spiegler syndrome: a novel surgical technique. ( 25361203 )
2014
30
A new Cylindromatosis (CYLD) gene mutation in a case of Brooke-Spiegler syndrome masquerading as basal cell carcinoma of the eyelids. ( 22689134 )
2013
31
A clinicopathologic and molecular biologic study of patients presenting with few adnexal tumors (two to four) from the morphological spectrum of Brooke-Spiegler syndrome. ( 22588548 )
2013
32
Brooke-Spiegler syndrome associated with ulcerative rectosigmoiditis. ( 22735777 )
2013
33
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. ( 23249834 )
2013
34
A novel germline mutation in the CYLD gene in a Slovak patient with Brooke-Spiegler syndrome. ( 23641715 )
2013
35
Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma and eccrine spiradenoma. ( 24261740 )
2013
36
Basal cell carcinoma arising in association with trichoepithelioma in a case of Brooke-Spiegler syndrome with a novel genetic mutation in CYLD. ( 22882113 )
2012
37
Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes. ( 22077640 )
2012
38
Brooke-spiegler syndrome with multiple scalp cylindromas and bilateral parotid gland adenomas. ( 22606564 )
2012
39
Brooke-spiegler syndrome: a rare entity. ( 22628987 )
2012
40
Radiofrequency ablation: a safe and economical modality in treatment of Brooke-Spiegler syndrome. ( 22948057 )
2012
41
A novel missense mutation of the CYLD gene identified in a Hungarian family with Brooke-Spiegler syndrome. ( 23171463 )
2012
42
Brooke-Spiegler syndrome. ( 23286806 )
2012
43
Comparing ablative fractionated resurfacing, photodynamic therapy, and topical imiquimod in the treatment of trichoblastomas of Brooke-Spiegler Syndrome: a case study. ( 21388481 )
2011
44
Expression of p53 and TP53 mutational analysis in malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma, sporadic or associated with Brooke-Spiegler syndrome. ( 20075707 )
2010
45
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. ( 20132422 )
2010
46
New mutation in the CYLD gene within a family with Brooke-Spiegler syndrome. ( 20151946 )
2010
47
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. ( 20502185 )
2010
48
Adenoid cystic carcinoma-like pattern in spiradenoma and spiradenocylindroma: a rare feature in sporadic neoplasms and those associated with Brooke-Spiegler syndrome. ( 19633533 )
2009
49
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. ( 19194280 )
2009
50
Familial cylindromatosis and brooke-spiegler syndrome: a review of current therapeutic approaches and the surgical challenges posed by two affected families. ( 19397670 )
2009
51
Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling. ( 19462465 )
2009
52
Dermoscopy of Brooke-Spiegler syndrome. ( 19620580 )
2009
53
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. ( 19668078 )
2009
54
Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas. ( 19807742 )
2009
55
Brooke-Spiegler syndrome: report of a case of multiple cylindromas and trichoepitheliomas. ( 18718192 )
2008
56
Brooke-Spiegler syndrome complicated by unilateral hearing loss. ( 18986490 )
2008
57
Brooke-Spiegler syndrome with associated pegged teeth. ( 19090338 )
2008
58
Brooke-Spiegler syndrome. ( 19171990 )
2008
59
Cylindroma transforming into basal cell carcinoma in a patient with Brooke-Spiegler syndrome. ( 21886698 )
2007
60
Brooke-Spiegler syndrome. ( 17511943 )
2007
61
Brooke-Spiegler syndrome - report of four families: treatment with CO2 laser. ( 17550556 )
2007
62
A case of Brooke-Spiegler syndrome with a new mutation in the CYLD gene. ( 16634909 )
2006
63
Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene. ( 17083363 )
2006
64
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. ( 16922728 )
2006
65
Brooke-Spiegler syndrome: report of a case with combined lesions containing cylindromatous, spiradenomatous, trichoblastomatous, and sebaceous differentiation. ( 15677973 )
2005
66
Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. ( 15854031 )
2005
67
Psoriasis and Brooke-Spiegler syndrome with multiple malignancies. ( 15857473 )
2005
68
Brooke-Spiegler syndrome: treatment with laser ablation. ( 15953067 )
2005
69
Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma, spiradenoma, and syringoma. ( 14739501 )
2004
70
Case 3. Brooke-Spiegler syndrome. ( 15115535 )
2004
71
Brooke-Spiegler syndrome with parotid gland involvement. ( 15246936 )
2004
72
Case of the Brooke-Spiegler syndrome. ( 15527432 )
2004
73
Identification of a recurrent mutation in the CYLD gene in Brooke-Spiegler syndrome. ( 12950348 )
2003
74
A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome. ( 14632188 )
2003
75
Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages. ( 12190880 )
2002
76
Ossified cylindroma in familial cylindromatosis (Brooke-Spiegler syndrome). ( 11493383 )
2001
77
Brooke-Spiegler syndrome. ( 11730050 )
2001
78
Brooke-Spiegler syndrome locus assigned to 16q12-q13. ( 10792569 )
2000
79
Brooke-Spiegler syndrome: treatment of cylindromas with CO2 laser. ( 10971563 )
2000
80
Malignant cylindroma in Brooke-Spiegler syndrome. ( 11096200 )
2000
81
Brooke-Spiegler syndrome variant: segregation of tumor types with mixed differentiation in two generations. ( 9504671 )
1998
82
A nevoid plaque with histological changes of trichoepithelioma and cylindroma in Brooke-Spiegler syndrome. An immunohistochemical study with cytokeratins. ( 8835176 )
1995
83
Spiradenomas in Brooke-Spiegler syndrome. ( 7684205 )
1993
84
The clinicopathological features of familial cylindromas and trichoepitheliomas (Brooke-Spiegler syndrome): a report of two families. ( 1333921 )
1992
85
Multiple hereditary trichoepithelioma and cylindroma (Brooke-Spiegler syndrome). ( 1660416 )
1991

Variations for Brooke-Spiegler Syndrome

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

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

ClinVar genetic disease variations for Brooke-Spiegler Syndrome:

6 (showing 183, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYLD CYLD, 1-BP DEL, 2253G deletion Pathogenic
2 CYLD CYLD, 1-BP DEL, 2172A deletion Pathogenic
3 CYLD NM_015247.2(CYLD): c.2240A> G (p.Glu747Gly) single nucleotide variant Pathogenic rs121908389 GRCh37 Chromosome 16, 50825600: 50825600
4 CYLD NM_015247.2(CYLD): c.2240A> G (p.Glu747Gly) single nucleotide variant Pathogenic rs121908389 GRCh38 Chromosome 16, 50791689: 50791689
5 CYLD NM_015247.2(CYLD): c.2806C> T (p.Arg936Ter) single nucleotide variant Pathogenic rs121908390 GRCh37 Chromosome 16, 50830354: 50830354
6 CYLD NM_015247.2(CYLD): c.2806C> T (p.Arg936Ter) single nucleotide variant Pathogenic rs121908390 GRCh38 Chromosome 16, 50796443: 50796443
7 CYLD CYLD, 1-BP DUP, 1392T duplication Pathogenic
8 CYLD NM_015247.2(CYLD): c.1292G> A (p.Gly431Glu) single nucleotide variant Likely benign rs200494719 GRCh37 Chromosome 16, 50813729: 50813729
9 CYLD NM_015247.2(CYLD): c.1292G> A (p.Gly431Glu) single nucleotide variant Likely benign rs200494719 GRCh38 Chromosome 16, 50779818: 50779818
10 CYLD NM_015247.2(CYLD): c.968_977delCAAGAGGTGT (p.Ser323Leufs) deletion Pathogenic rs886040870 GRCh38 Chromosome 16, 50776224: 50776233
11 CYLD NM_015247.2(CYLD): c.968_977delCAAGAGGTGT (p.Ser323Leufs) deletion Pathogenic rs886040870 GRCh37 Chromosome 16, 50810135: 50810144
12 CYLD NM_015247.2(CYLD): c.1537dupT (p.Cys513Leufs) duplication Pathogenic rs886040874 GRCh38 Chromosome 16, 50781264: 50781264
13 CYLD NM_015247.2(CYLD): c.1537dupT (p.Cys513Leufs) duplication Pathogenic rs886040874 GRCh37 Chromosome 16, 50815175: 50815175
14 CYLD NM_015247.2(CYLD): c.1599dupT (p.Val534Cysfs) duplication Pathogenic rs886040875 GRCh38 Chromosome 16, 50781326: 50781326
15 CYLD NM_015247.2(CYLD): c.1599dupT (p.Val534Cysfs) duplication Pathogenic rs886040875 GRCh37 Chromosome 16, 50815237: 50815237
16 CYLD NM_015247.2(CYLD): c.2108G> A (p.Arg703Lys) single nucleotide variant Pathogenic rs886040884 GRCh38 Chromosome 16, 50787852: 50787852
17 CYLD NM_015247.2(CYLD): c.2108G> A (p.Arg703Lys) single nucleotide variant Pathogenic rs886040884 GRCh37 Chromosome 16, 50821763: 50821763
18 CYLD NM_015247.2(CYLD): c.2138_2139dupAC (p.Phe714Thrfs) duplication Pathogenic rs886040885 GRCh38 Chromosome 16, 50791587: 50791588
19 CYLD NM_015247.2(CYLD): c.2138_2139dupAC (p.Phe714Thrfs) duplication Pathogenic rs886040885 GRCh37 Chromosome 16, 50825498: 50825499
20 CYLD NM_015247.2(CYLD): c.2342T> C (p.Leu781Pro) single nucleotide variant Uncertain significance rs886040889 GRCh38 Chromosome 16, 50792697: 50792697
21 CYLD NM_015247.2(CYLD): c.2342T> C (p.Leu781Pro) single nucleotide variant Uncertain significance rs886040889 GRCh37 Chromosome 16, 50826608: 50826608
22 CYLD NM_015247.2(CYLD): c.-161A> G single nucleotide variant Uncertain significance rs886052051 GRCh37 Chromosome 16, 50778740: 50778740
23 CYLD NM_015247.2(CYLD): c.-161A> G single nucleotide variant Uncertain significance rs886052051 GRCh38 Chromosome 16, 50744829: 50744829
24 CYLD NM_015247.2(CYLD): c.-23A> C single nucleotide variant Uncertain significance rs771486432 GRCh37 Chromosome 16, 50783587: 50783587
25 CYLD NM_015247.2(CYLD): c.-23A> C single nucleotide variant Uncertain significance rs771486432 GRCh38 Chromosome 16, 50749676: 50749676
26 CYLD NM_015247.2(CYLD): c.1172T> C (p.Ile391Thr) single nucleotide variant Likely benign rs138976689 GRCh38 Chromosome 16, 50779698: 50779698
27 CYLD NM_015247.2(CYLD): c.1172T> C (p.Ile391Thr) single nucleotide variant Likely benign rs138976689 GRCh37 Chromosome 16, 50813609: 50813609
28 CYLD NM_015247.2(CYLD): c.1473C> T (p.Ile491=) single nucleotide variant Likely benign rs75757530 GRCh38 Chromosome 16, 50779999: 50779999
29 CYLD NM_015247.2(CYLD): c.1473C> T (p.Ile491=) single nucleotide variant Likely benign rs75757530 GRCh37 Chromosome 16, 50813910: 50813910
30 CYLD NM_015247.2(CYLD): c.1503C> T (p.Leu501=) single nucleotide variant Uncertain significance rs752471076 GRCh38 Chromosome 16, 50780029: 50780029
31 CYLD NM_015247.2(CYLD): c.1503C> T (p.Leu501=) single nucleotide variant Uncertain significance rs752471076 GRCh37 Chromosome 16, 50813940: 50813940
32 CYLD NM_015247.2(CYLD): c.*837A> G single nucleotide variant Benign rs3743781 GRCh38 Chromosome 16, 50797345: 50797345
33 CYLD NM_015247.2(CYLD): c.*837A> G single nucleotide variant Benign rs3743781 GRCh37 Chromosome 16, 50831256: 50831256
34 CYLD NM_015247.2(CYLD): c.*1102G> A single nucleotide variant Likely benign rs141088048 GRCh38 Chromosome 16, 50797610: 50797610
35 CYLD NM_015247.2(CYLD): c.*1102G> A single nucleotide variant Likely benign rs141088048 GRCh37 Chromosome 16, 50831521: 50831521
36 CYLD NM_015247.2(CYLD): c.*1245T> C single nucleotide variant Likely benign rs192470603 GRCh38 Chromosome 16, 50797753: 50797753
37 CYLD NM_015247.2(CYLD): c.*1245T> C single nucleotide variant Likely benign rs192470603 GRCh37 Chromosome 16, 50831664: 50831664
38 CYLD NM_015247.2(CYLD): c.*1308A> G single nucleotide variant Uncertain significance rs886052054 GRCh38 Chromosome 16, 50797816: 50797816
39 CYLD NM_015247.2(CYLD): c.*1308A> G single nucleotide variant Uncertain significance rs886052054 GRCh37 Chromosome 16, 50831727: 50831727
40 CYLD NM_015247.2(CYLD): c.*1575G> A single nucleotide variant Likely benign rs184344245 GRCh38 Chromosome 16, 50798083: 50798083
41 CYLD NM_015247.2(CYLD): c.*1575G> A single nucleotide variant Likely benign rs184344245 GRCh37 Chromosome 16, 50831994: 50831994
42 CYLD NM_015247.2(CYLD): c.*1667G> T single nucleotide variant Uncertain significance rs750022206 GRCh37 Chromosome 16, 50832086: 50832086
43 CYLD NM_015247.2(CYLD): c.*1667G> T single nucleotide variant Uncertain significance rs750022206 GRCh38 Chromosome 16, 50798175: 50798175
44 CYLD NM_015247.2(CYLD): c.*1746C> T single nucleotide variant Uncertain significance rs886052057 GRCh37 Chromosome 16, 50832165: 50832165
45 CYLD NM_015247.2(CYLD): c.*1746C> T single nucleotide variant Uncertain significance rs886052057 GRCh38 Chromosome 16, 50798254: 50798254
46 CYLD NM_015247.2(CYLD): c.*1810A> T single nucleotide variant Uncertain significance rs886052058 GRCh37 Chromosome 16, 50832229: 50832229
47 CYLD NM_015247.2(CYLD): c.*1810A> T single nucleotide variant Uncertain significance rs886052058 GRCh38 Chromosome 16, 50798318: 50798318
48 CYLD NM_015247.2(CYLD): c.*2556A> G single nucleotide variant Uncertain significance rs747682326 GRCh37 Chromosome 16, 50832975: 50832975
49 CYLD NM_015247.2(CYLD): c.*2556A> G single nucleotide variant Uncertain significance rs747682326 GRCh38 Chromosome 16, 50799064: 50799064
50 CYLD NM_015247.2(CYLD): c.*2975C> T single nucleotide variant Uncertain significance rs886052062 GRCh38 Chromosome 16, 50799483: 50799483
51 CYLD NM_015247.2(CYLD): c.*2975C> T single nucleotide variant Uncertain significance rs886052062 GRCh37 Chromosome 16, 50833394: 50833394
52 CYLD NM_015247.2(CYLD): c.*3305A> G single nucleotide variant Uncertain significance rs886052065 GRCh38 Chromosome 16, 50799813: 50799813
53 CYLD NM_015247.2(CYLD): c.*3305A> G single nucleotide variant Uncertain significance rs886052065 GRCh37 Chromosome 16, 50833724: 50833724
54 CYLD NM_015247.2(CYLD): c.*3469T> C single nucleotide variant Likely benign rs111951225 GRCh38 Chromosome 16, 50799977: 50799977
55 CYLD NM_015247.2(CYLD): c.*3469T> C single nucleotide variant Likely benign rs111951225 GRCh37 Chromosome 16, 50833888: 50833888
56 CYLD NM_015247.2(CYLD): c.*3731C> T single nucleotide variant Likely benign rs551109634 GRCh38 Chromosome 16, 50800239: 50800239
57 CYLD NM_015247.2(CYLD): c.*3731C> T single nucleotide variant Likely benign rs551109634 GRCh37 Chromosome 16, 50834150: 50834150
58 CYLD NM_015247.2(CYLD): c.*3739C> G single nucleotide variant Likely benign rs16948836 GRCh38 Chromosome 16, 50800247: 50800247
59 CYLD NM_015247.2(CYLD): c.*3739C> G single nucleotide variant Likely benign rs16948836 GRCh37 Chromosome 16, 50834158: 50834158
60 CYLD NM_015247.2(CYLD): c.*4494G> A single nucleotide variant Uncertain significance rs546313281 GRCh38 Chromosome 16, 50801002: 50801002
61 CYLD NM_015247.2(CYLD): c.*4494G> A single nucleotide variant Uncertain significance rs546313281 GRCh37 Chromosome 16, 50834913: 50834913
62 CYLD NM_015247.2(CYLD): c.*4567C> T single nucleotide variant Likely benign rs113748745 GRCh38 Chromosome 16, 50801075: 50801075
63 CYLD NM_015247.2(CYLD): c.*4567C> T single nucleotide variant Likely benign rs113748745 GRCh37 Chromosome 16, 50834986: 50834986
64 CYLD NM_015247.2(CYLD): c.*4702C> T single nucleotide variant Uncertain significance rs886052070 GRCh38 Chromosome 16, 50801210: 50801210
65 CYLD NM_015247.2(CYLD): c.*4702C> T single nucleotide variant Uncertain significance rs886052070 GRCh37 Chromosome 16, 50835121: 50835121
66 CYLD NM_015247.2(CYLD): c.*4841G> A single nucleotide variant Uncertain significance rs886052071 GRCh38 Chromosome 16, 50801349: 50801349
67 CYLD NM_015247.2(CYLD): c.*4841G> A single nucleotide variant Uncertain significance rs886052071 GRCh37 Chromosome 16, 50835260: 50835260
68 CYLD NM_015247.2(CYLD): c.*5384A> G single nucleotide variant Uncertain significance rs886052072 GRCh37 Chromosome 16, 50835803: 50835803
69 CYLD NM_015247.2(CYLD): c.*5384A> G single nucleotide variant Uncertain significance rs886052072 GRCh38 Chromosome 16, 50801892: 50801892
70 CYLD NM_015247.2(CYLD): c.-366G> C single nucleotide variant Uncertain significance rs886052050 GRCh37 Chromosome 16, 50776010: 50776010
71 CYLD NM_015247.2(CYLD): c.-366G> C single nucleotide variant Uncertain significance rs886052050 GRCh38 Chromosome 16, 50742099: 50742099
72 CYLD NM_015247.2(CYLD): c.*47G> A single nucleotide variant Likely benign rs116979331 GRCh38 Chromosome 16, 50796555: 50796555
73 CYLD NM_015247.2(CYLD): c.*47G> A single nucleotide variant Likely benign rs116979331 GRCh37 Chromosome 16, 50830466: 50830466
74 CYLD NM_015247.2(CYLD): c.*403T> C single nucleotide variant Uncertain significance rs886052052 GRCh38 Chromosome 16, 50796911: 50796911
75 CYLD NM_015247.2(CYLD): c.*403T> C single nucleotide variant Uncertain significance rs886052052 GRCh37 Chromosome 16, 50830822: 50830822
76 CYLD NM_015247.2(CYLD): c.*698T> G single nucleotide variant Likely benign rs541975303 GRCh38 Chromosome 16, 50797206: 50797206
77 CYLD NM_015247.2(CYLD): c.*698T> G single nucleotide variant Likely benign rs541975303 GRCh37 Chromosome 16, 50831117: 50831117
78 CYLD NM_015247.2(CYLD): c.*841G> A single nucleotide variant Likely benign rs117537927 GRCh38 Chromosome 16, 50797349: 50797349
79 CYLD NM_015247.2(CYLD): c.*841G> A single nucleotide variant Likely benign rs117537927 GRCh37 Chromosome 16, 50831260: 50831260
80 CYLD NM_015247.2(CYLD): c.*1727T> C single nucleotide variant Uncertain significance rs886052056 GRCh37 Chromosome 16, 50832146: 50832146
81 CYLD NM_015247.2(CYLD): c.*1727T> C single nucleotide variant Uncertain significance rs886052056 GRCh38 Chromosome 16, 50798235: 50798235
82 CYLD NM_015247.2(CYLD): c.*2305A> T single nucleotide variant Likely benign rs559634329 GRCh37 Chromosome 16, 50832724: 50832724
83 CYLD NM_015247.2(CYLD): c.*2305A> T single nucleotide variant Likely benign rs559634329 GRCh38 Chromosome 16, 50798813: 50798813
84 CYLD NM_015247.2(CYLD): c.*2438G> A single nucleotide variant Uncertain significance rs886052061 GRCh37 Chromosome 16, 50832857: 50832857
85 CYLD NM_015247.2(CYLD): c.*2438G> A single nucleotide variant Uncertain significance rs886052061 GRCh38 Chromosome 16, 50798946: 50798946
86 CYLD NM_015247.2(CYLD): c.*2615A> G single nucleotide variant Likely benign rs181056407 GRCh37 Chromosome 16, 50833034: 50833034
87 CYLD NM_015247.2(CYLD): c.*2615A> G single nucleotide variant Likely benign rs181056407 GRCh38 Chromosome 16, 50799123: 50799123
88 CYLD NM_015247.2(CYLD): c.*3722T> G single nucleotide variant Uncertain significance rs886052067 GRCh38 Chromosome 16, 50800230: 50800230
89 CYLD NM_015247.2(CYLD): c.*3722T> G single nucleotide variant Uncertain significance rs886052067 GRCh37 Chromosome 16, 50834141: 50834141
90 CYLD NM_015247.2(CYLD): c.*4561G> A single nucleotide variant Benign rs17314948 GRCh38 Chromosome 16, 50801069: 50801069
91 CYLD NM_015247.2(CYLD): c.*4561G> A single nucleotide variant Benign rs17314948 GRCh37 Chromosome 16, 50834980: 50834980
92 CYLD NM_015247.2(CYLD): c.*4691A> G single nucleotide variant Uncertain significance rs886052069 GRCh38 Chromosome 16, 50801199: 50801199
93 CYLD NM_015247.2(CYLD): c.*4691A> G single nucleotide variant Uncertain significance rs886052069 GRCh37 Chromosome 16, 50835110: 50835110
94 CYLD NM_015247.2(CYLD): c.*4888_*4889delAT deletion Benign rs143814807 GRCh37 Chromosome 16, 50835307: 50835308
95 CYLD NM_015247.2(CYLD): c.*4888_*4889delAT deletion Benign rs143814807 GRCh38 Chromosome 16, 50801396: 50801397
96 CYLD NM_015247.2(CYLD): c.59T> G (p.Ile20Ser) single nucleotide variant Uncertain significance rs764097337 GRCh37 Chromosome 16, 50783668: 50783668
97 CYLD NM_015247.2(CYLD): c.59T> G (p.Ile20Ser) single nucleotide variant Uncertain significance rs764097337 GRCh38 Chromosome 16, 50749757: 50749757
98 CYLD NM_015247.2(CYLD): c.2145T> C (p.Tyr715=) single nucleotide variant Uncertain significance rs200905032 GRCh38 Chromosome 16, 50791594: 50791594
99 CYLD NM_015247.2(CYLD): c.2145T> C (p.Tyr715=) single nucleotide variant Uncertain significance rs200905032 GRCh37 Chromosome 16, 50825505: 50825505
100 CYLD NM_015247.2(CYLD): c.*468A> C single nucleotide variant Uncertain significance rs886052053 GRCh38 Chromosome 16, 50796976: 50796976
101 CYLD NM_015247.2(CYLD): c.*468A> C single nucleotide variant Uncertain significance rs886052053 GRCh37 Chromosome 16, 50830887: 50830887
102 CYLD NM_015247.2(CYLD): c.*831C> T single nucleotide variant Uncertain significance rs144877731 GRCh38 Chromosome 16, 50797339: 50797339
103 CYLD NM_015247.2(CYLD): c.*831C> T single nucleotide variant Uncertain significance rs144877731 GRCh37 Chromosome 16, 50831250: 50831250
104 CYLD NM_015247.2(CYLD): c.*1341T> G single nucleotide variant Likely benign rs140767609 GRCh38 Chromosome 16, 50797849: 50797849
105 CYLD NM_015247.2(CYLD): c.*1341T> G single nucleotide variant Likely benign rs140767609 GRCh37 Chromosome 16, 50831760: 50831760
106 CYLD NM_015247.2(CYLD): c.*1587dupA duplication Uncertain significance rs886052055 GRCh38 Chromosome 16, 50798095: 50798095
107 CYLD NM_015247.2(CYLD): c.*1587dupA duplication Uncertain significance rs886052055 GRCh37 Chromosome 16, 50832006: 50832006
108 CYLD NM_015247.2(CYLD): c.*1590T> C single nucleotide variant Likely benign rs528844666 GRCh37 Chromosome 16, 50832009: 50832009
109 CYLD NM_015247.2(CYLD): c.*1590T> C single nucleotide variant Likely benign rs528844666 GRCh38 Chromosome 16, 50798098: 50798098
110 CYLD NM_015247.2(CYLD): c.*2150A> G single nucleotide variant Likely benign rs563954578 GRCh37 Chromosome 16, 50832569: 50832569
111 CYLD NM_015247.2(CYLD): c.*2150A> G single nucleotide variant Likely benign rs563954578 GRCh38 Chromosome 16, 50798658: 50798658
112 CYLD NM_015247.2(CYLD): c.*2646G> A single nucleotide variant Likely benign rs563329143 GRCh38 Chromosome 16, 50799154: 50799154
113 CYLD NM_015247.2(CYLD): c.*2646G> A single nucleotide variant Likely benign rs563329143 GRCh37 Chromosome 16, 50833065: 50833065
114 CYLD NM_015247.2(CYLD): c.*3000C> G single nucleotide variant Uncertain significance rs886052063 GRCh38 Chromosome 16, 50799508: 50799508
115 CYLD NM_015247.2(CYLD): c.*3000C> G single nucleotide variant Uncertain significance rs886052063 GRCh37 Chromosome 16, 50833419: 50833419
116 CYLD NM_015247.2(CYLD): c.*3070A> G single nucleotide variant Likely benign rs144667145 GRCh38 Chromosome 16, 50799578: 50799578
117 CYLD NM_015247.2(CYLD): c.*3070A> G single nucleotide variant Likely benign rs144667145 GRCh37 Chromosome 16, 50833489: 50833489
118 CYLD NM_015247.2(CYLD): c.*3229C> T single nucleotide variant Uncertain significance rs752862278 GRCh38 Chromosome 16, 50799737: 50799737
119 CYLD NM_015247.2(CYLD): c.*3229C> T single nucleotide variant Uncertain significance rs752862278 GRCh37 Chromosome 16, 50833648: 50833648
120 CYLD NM_015247.2(CYLD): c.*3384G> A single nucleotide variant Uncertain significance rs886052066 GRCh38 Chromosome 16, 50799892: 50799892
121 CYLD NM_015247.2(CYLD): c.*3384G> A single nucleotide variant Uncertain significance rs886052066 GRCh37 Chromosome 16, 50833803: 50833803
122 CYLD NM_015247.2(CYLD): c.*3614C> A single nucleotide variant Likely benign rs372370285 GRCh38 Chromosome 16, 50800122: 50800122
123 CYLD NM_015247.2(CYLD): c.*3614C> A single nucleotide variant Likely benign rs372370285 GRCh37 Chromosome 16, 50834033: 50834033
124 CYLD NM_015247.2(CYLD): c.*3736G> A single nucleotide variant Likely benign rs567662515 GRCh38 Chromosome 16, 50800244: 50800244
125 CYLD NM_015247.2(CYLD): c.*3736G> A single nucleotide variant Likely benign rs567662515 GRCh37 Chromosome 16, 50834155: 50834155
126 CYLD NM_015247.2(CYLD): c.*4388C> T single nucleotide variant Uncertain significance rs781004605 GRCh38 Chromosome 16, 50800896: 50800896
127 CYLD NM_015247.2(CYLD): c.*4388C> T single nucleotide variant Uncertain significance rs781004605 GRCh37 Chromosome 16, 50834807: 50834807
128 CYLD NM_015247.2(CYLD): c.*4470C> A single nucleotide variant Uncertain significance rs755710819 GRCh38 Chromosome 16, 50800978: 50800978
129 CYLD NM_015247.2(CYLD): c.*4470C> A single nucleotide variant Uncertain significance rs755710819 GRCh37 Chromosome 16, 50834889: 50834889
130 CYLD NM_015247.2(CYLD): c.*4947G> A single nucleotide variant Likely benign rs567438576 GRCh37 Chromosome 16, 50835366: 50835366
131 CYLD NM_015247.2(CYLD): c.*4947G> A single nucleotide variant Likely benign rs567438576 GRCh38 Chromosome 16, 50801455: 50801455
132 CYLD NM_015247.2(CYLD): c.*5086A> G single nucleotide variant Likely benign rs572929759 GRCh37 Chromosome 16, 50835505: 50835505
133 CYLD NM_015247.2(CYLD): c.*5086A> G single nucleotide variant Likely benign rs572929759 GRCh38 Chromosome 16, 50801594: 50801594
134 CYLD NM_015247.2(CYLD): c.*5272C> T single nucleotide variant Likely benign rs140875917 GRCh37 Chromosome 16, 50835691: 50835691
135 CYLD NM_015247.2(CYLD): c.*5272C> T single nucleotide variant Likely benign rs140875917 GRCh38 Chromosome 16, 50801780: 50801780
136 CYLD NM_015247.2(CYLD): c.126G> A (p.Pro42=) single nucleotide variant Likely benign rs202119806 GRCh38 Chromosome 16, 50749824: 50749824
137 CYLD NM_015247.2(CYLD): c.126G> A (p.Pro42=) single nucleotide variant Likely benign rs202119806 GRCh37 Chromosome 16, 50783735: 50783735
138 CYLD NM_015247.2(CYLD): c.543C> T (p.Tyr181=) single nucleotide variant Uncertain significance rs752294416 GRCh38 Chromosome 16, 50751642: 50751642
139 CYLD NM_015247.2(CYLD): c.543C> T (p.Tyr181=) single nucleotide variant Uncertain significance rs752294416 GRCh37 Chromosome 16, 50785553: 50785553
140 CYLD NM_015247.2(CYLD): c.922+9C> A single nucleotide variant Likely benign rs528253971 GRCh38 Chromosome 16, 50775183: 50775183
141 CYLD NM_015247.2(CYLD): c.922+9C> A single nucleotide variant Likely benign rs528253971 GRCh37 Chromosome 16, 50809094: 50809094
142 CYLD NM_015247.2(CYLD): c.1166C> G (p.Thr389Arg) single nucleotide variant Uncertain significance rs200759332 GRCh38 Chromosome 16, 50779692: 50779692
143 CYLD NM_015247.2(CYLD): c.1166C> G (p.Thr389Arg) single nucleotide variant Uncertain significance rs200759332 GRCh37 Chromosome 16, 50813603: 50813603
144 CYLD NM_015247.2(CYLD): c.2109-10G> A single nucleotide variant Benign rs11865799 GRCh38 Chromosome 16, 50791548: 50791548
145 CYLD NM_015247.2(CYLD): c.2109-10G> A single nucleotide variant Benign rs11865799 GRCh37 Chromosome 16, 50825459: 50825459
146 CYLD NM_015247.2(CYLD): c.2319G> A (p.Leu773=) single nucleotide variant Likely benign rs199912760 GRCh38 Chromosome 16, 50792674: 50792674
147 CYLD NM_015247.2(CYLD): c.2319G> A (p.Leu773=) single nucleotide variant Likely benign rs199912760 GRCh37 Chromosome 16, 50826585: 50826585
148 CYLD NM_015247.2(CYLD): c.2412C> T (p.Asp804=) single nucleotide variant Benign rs2066852 GRCh38 Chromosome 16, 50793607: 50793607
149 CYLD NM_015247.2(CYLD): c.2412C> T (p.Asp804=) single nucleotide variant Benign rs2066852 GRCh37 Chromosome 16, 50827518: 50827518
150 CYLD NM_015247.2(CYLD): c.2465C> T (p.Thr822Ile) single nucleotide variant Uncertain significance rs775394735 GRCh38 Chromosome 16, 50793660: 50793660
151 CYLD NM_015247.2(CYLD): c.2465C> T (p.Thr822Ile) single nucleotide variant Uncertain significance rs775394735 GRCh37 Chromosome 16, 50827571: 50827571
152 CYLD NM_015247.2(CYLD): c.*382T> C single nucleotide variant Likely benign rs142580891 GRCh38 Chromosome 16, 50796890: 50796890
153 CYLD NM_015247.2(CYLD): c.*382T> C single nucleotide variant Likely benign rs142580891 GRCh37 Chromosome 16, 50830801: 50830801
154 CYLD NM_015247.2(CYLD): c.*779G> A single nucleotide variant Likely benign rs190787930 GRCh38 Chromosome 16, 50797287: 50797287
155 CYLD NM_015247.2(CYLD): c.*779G> A single nucleotide variant Likely benign rs190787930 GRCh37 Chromosome 16, 50831198: 50831198
156 CYLD NM_015247.2(CYLD): c.*1831G> A single nucleotide variant Likely benign rs181246559 GRCh37 Chromosome 16, 50832250: 50832250
157 CYLD NM_015247.2(CYLD): c.*1831G> A single nucleotide variant Likely benign rs181246559 GRCh38 Chromosome 16, 50798339: 50798339
158 CYLD NM_015247.2(CYLD): c.*1983T> C single nucleotide variant Uncertain significance rs867027657 GRCh37 Chromosome 16, 50832402: 50832402
159 CYLD NM_015247.2(CYLD): c.*1983T> C single nucleotide variant Uncertain significance rs867027657 GRCh38 Chromosome 16, 50798491: 50798491
160 CYLD NM_015247.2(CYLD): c.*2121_*2122delAA deletion Uncertain significance rs74757288 GRCh37 Chromosome 16, 50832540: 50832541
161 CYLD NM_015247.2(CYLD): c.*2121_*2122delAA deletion Uncertain significance rs74757288 GRCh38 Chromosome 16, 50798629: 50798630
162 CYLD NM_015247.2(CYLD): c.*2122delA deletion Benign rs74757288 GRCh37 Chromosome 16, 50832541: 50832541
163 CYLD NM_015247.2(CYLD): c.*2122delA deletion Benign rs74757288 GRCh38 Chromosome 16, 50798630: 50798630
164 CYLD NM_015247.2(CYLD): c.*2236C> T single nucleotide variant Likely benign rs57638820 GRCh37 Chromosome 16, 50832655: 50832655
165 CYLD NM_015247.2(CYLD): c.*2236C> T single nucleotide variant Likely benign rs57638820 GRCh38 Chromosome 16, 50798744: 50798744
166 CYLD NM_015247.2(CYLD): c.*2335T> C single nucleotide variant Likely benign rs9646285 GRCh37 Chromosome 16, 50832754: 50832754
167 CYLD NM_015247.2(CYLD): c.*2335T> C single nucleotide variant Likely benign rs9646285 GRCh38 Chromosome 16, 50798843: 50798843
168 CYLD NM_015247.2(CYLD): c.*2369G> A single nucleotide variant Likely benign rs16948829 GRCh37 Chromosome 16, 50832788: 50832788
169 CYLD NM_015247.2(CYLD): c.*2369G> A single nucleotide variant Likely benign rs16948829 GRCh38 Chromosome 16, 50798877: 50798877
170 CYLD NM_015247.2(CYLD): c.*2710C> T single nucleotide variant Likely benign rs141928186 GRCh38 Chromosome 16, 50799218: 50799218
171 CYLD NM_015247.2(CYLD): c.*2710C> T single nucleotide variant Likely benign rs141928186 GRCh37 Chromosome 16, 50833129: 50833129
172 CYLD NM_015247.2(CYLD): c.*2856T> C single nucleotide variant Uncertain significance rs778856255 GRCh38 Chromosome 16, 50799364: 50799364
173 CYLD NM_015247.2(CYLD): c.*2856T> C single nucleotide variant Uncertain significance rs778856255 GRCh37 Chromosome 16, 50833275: 50833275
174 CYLD NM_015247.2(CYLD): c.*3119delT deletion Uncertain significance rs149875014 GRCh38 Chromosome 16, 50799627: 50799627
175 CYLD NM_015247.2(CYLD): c.*3119delT deletion Uncertain significance rs149875014 GRCh37 Chromosome 16, 50833538: 50833538
176 CYLD NM_015247.2(CYLD): c.*3148T> C single nucleotide variant Uncertain significance rs555603514 GRCh38 Chromosome 16, 50799656: 50799656
177 CYLD NM_015247.2(CYLD): c.*3148T> C single nucleotide variant Uncertain significance rs555603514 GRCh37 Chromosome 16, 50833567: 50833567
178 CYLD NM_015247.2(CYLD): c.*3679T> C single nucleotide variant Likely benign rs141888517 GRCh38 Chromosome 16, 50800187: 50800187
179 CYLD NM_015247.2(CYLD): c.*3679T> C single nucleotide variant Likely benign rs141888517 GRCh37 Chromosome 16, 50834098: 50834098
180 CYLD NM_015247.2(CYLD): c.*4485G> C single nucleotide variant Uncertain significance rs886052068 GRCh38 Chromosome 16, 50800993: 50800993
181 CYLD NM_015247.2(CYLD): c.*4485G> C single nucleotide variant Uncertain significance rs886052068 GRCh37 Chromosome 16, 50834904: 50834904
182 CYLD NM_015247.2(CYLD): c.*4885A> T single nucleotide variant Likely benign rs184571054 GRCh38 Chromosome 16, 50801393: 50801393
183 CYLD NM_015247.2(CYLD): c.*4885A> T single nucleotide variant Likely benign rs184571054 GRCh37 Chromosome 16, 50835304: 50835304

Cosmic variations for Brooke-Spiegler Syndrome:

9 (showing 1155, 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 COSM6926860 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.5825G>A p.G1942E 16:72796857-72796857 0
2 COSM6969201 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 0
3 COSM6953811 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 0
4 COSM6926862 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 0
5 COSM6936924 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 0
6 COSM3691166 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 0
7 COSM6926861 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 0
8 COSM212945 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 0
9 COSM1658946 VWA5B1 salivary gland,parotid,carcinoma,NS c.1486G>A p.V496I 1:20330897-20330897 0
10 COSM5030964 VHL salivary gland,parotid,carcinoma,NS c.319C>T p.R107C 3:10142166-10142166 0
11 COSM1659032 TXNRD3 salivary gland,parotid,carcinoma,NS c.412A>G p.K138E 3:126647293-126647293 0
12 COSM6936922 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 0
13 COSM6926855 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 0
14 COSM6953809 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 0
15 COSM6912933 TRAF7 skin,NS,carcinoma,basal cell carcinoma c.1802C>T p.T601I 16:2176104-2176104 0
16 COSM6949578 TP63 skin,NS,carcinoma,basal cell carcinoma c.1922C>T p.A641V 3:189894381-189894381 0
17 COSM44071 TP53 skin,NS,carcinoma,basal cell carcinoma c.955A>G p.K319E 17:7673573-7673573 0
18 COSM44097 TP53 skin,face,carcinoma,basal cell carcinoma c.530C>T p.P177L 17:7675082-7675082 0
19 COSM10812 TP53 skin,NS,carcinoma,basal cell carcinoma c.722C>T p.S241F 17:7674241-7674241 0
20 COSM10988 TP53 skin,NS,carcinoma,basal cell carcinoma c.772G>A p.E258K 17:7674191-7674191 0
21 COSM45074 TP53 skin,NS,carcinoma,basal cell carcinoma c.829T>G p.C277G 17:7673791-7673791 0
22 COSM10728 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 17:7673781-7673781 0
23 COSM45739 TP53 skin,NS,carcinoma,basal cell carcinoma c.677G>C p.G226A 17:7674286-7674286 0
24 COSM10654 TP53 salivary gland,parotid,carcinoma,NS c.637C>T p.R213* 17:7674894-7674894 0
25 COSM10705 TP53 skin,face,carcinoma,NS c.586C>T p.R196* 17:7674945-7674945 0
26 COSM5030953 TP53 salivary gland,parotid,carcinoma,NS c.38C>T p.P13L 17:7676557-7676557 0
27 COSM44295 TP53 skin,face,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 0
28 COSM10939 TP53 skin,face,carcinoma,basal cell carcinoma c.832C>T p.P278S 17:7673788-7673788 0
29 COSM43544 TP53 skin,face,carcinoma,NS c.260C>A p.P87Q 17:7676109-7676109 0
30 COSM10650 TP53 skin,NS,carcinoma,basal cell carcinoma c.529C>T p.P177S 17:7675083-7675083 0
31 COSM44326 TP53 skin,face,carcinoma,NS c.706T>C p.Y236H 17:7674257-7674257 0
32 COSM10662 TP53 skin,face,carcinoma,basal cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 0
33 COSM43665 TP53 skin,NS,carcinoma,basal cell carcinoma c.746G>C p.R249T 17:7674217-7674217 0
34 COSM43632 TP53 salivary gland,parotid,carcinoma,NS c.493C>T p.Q165* 17:7675119-7675119 0
35 COSM45774 TP53 skin,NS,carcinoma,basal cell carcinoma c.899C>G p.P300R 17:7673721-7673721 0
36 COSM10749 TP53 skin,NS,carcinoma,basal cell carcinoma c.830G>T p.C277F 17:7673790-7673790 0
37 COSM11305 TP53 salivary gland,parotid,carcinoma,NS c.809T>C p.F270S 17:7673811-7673811 0
38 COSM10660 TP53 skin,NS,carcinoma,basal cell carcinoma c.818G>A p.R273H 17:7673802-7673802 0
39 COSM11449 TP53 skin,face,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 0
40 COSM44640 TP53 salivary gland,parotid,carcinoma,NS c.782+1G>T p.? 17:7674180-7674180 0
41 COSM10771 TP53 skin,NS,carcinoma,basal cell carcinoma c.749C>T p.P250L 17:7674214-7674214 0
42 COSM44068 TP53 skin,face,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 0
43 COSM11152 TP53 skin,NS,carcinoma,basal cell carcinoma c.700T>C p.Y234H 17:7674263-7674263 0
44 COSM45307 TP53 salivary gland,parotid,carcinoma,NS c.309C>A p.Y103* 17:7676060-7676060 0
45 COSM10768 TP53 skin,NS,carcinoma,basal cell carcinoma c.535C>T p.H179Y 17:7675077-7675077 0
46 COSM45834 TP53 skin,NS,carcinoma,basal cell carcinoma c.409C>A p.L137M 17:7675203-7675203 0
47 COSM10905 TP53 skin,NS,carcinoma,basal cell carcinoma c.451C>T p.P151S 17:7675161-7675161 0
48 COSM6932 TP53 skin,NS,carcinoma,basal cell carcinoma c.733G>A p.G245S 17:7674230-7674230 0
49 COSM10648 TP53 skin,NS,carcinoma,basal cell carcinoma c.524G>A p.R175H 17:7675088-7675088 0
50 COSM45424 TP53 skin,NS,carcinoma,basal cell carcinoma c.781A>T p.S261C 17:7674182-7674182 0
51 COSM10656 TP53 skin,face,carcinoma,NS c.742C>T p.R248W 17:7674221-7674221 0
52 COSM10659 TP53 skin,NS,carcinoma,basal cell carcinoma c.817C>T p.R273C 17:7673803-7673803 0
53 COSM10794 TP53 skin,NS,carcinoma,basal cell carcinoma c.796G>A p.G266R 17:7673824-7673824 0
54 COSM43582 TP53 skin,NS,carcinoma,basal cell carcinoma c.454C>T p.P152S 17:7675158-7675158 0
55 COSM10704 TP53 skin,NS,carcinoma,basal cell carcinoma c.844C>T p.R282W 17:7673776-7673776 0
56 COSM45830 TP53 skin,face,carcinoma,NS c.766A>C p.T256P 17:7674197-7674197 0
57 COSM43687 TP53 salivary gland,parotid,carcinoma,NS c.641A>G p.H214R 17:7674890-7674890 0
58 COSM6549 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>T p.R248L 17:7674220-7674220 0
59 COSM10726 TP53 skin,face,carcinoma,basal cell carcinoma c.856G>A p.E286K 17:7673764-7673764 0
60 COSM45304 TP53 skin,NS,carcinoma,basal cell carcinoma c.375+1G>A p.? 17:7675993-7675993 0
61 COSM10867 TP53 skin,NS,carcinoma,basal cell carcinoma c.797G>A p.G266E 17:7673823-7673823 0
62 COSM11196 TP53 salivary gland,parotid,carcinoma,NS c.734G>T p.G245V 17:7674229-7674229 0
63 COSM43714 TP53 skin,NS,carcinoma,basal cell carcinoma c.836G>A p.G279E 17:7673784-7673784 0
64 COSM44226 TP53 skin,NS,carcinoma,basal cell carcinoma c.380C>T p.S127F 17:7675232-7675232 0
65 COSM10995 TP53 skin,NS,carcinoma,basal cell carcinoma c.580C>T p.L194F 17:7674951-7674951 0
66 COSM43814 TP53 salivary gland,parotid,carcinoma,NS c.587G>C p.R196P 17:7674944-7674944 0
67 COSM45322 TP53 skin,NS,carcinoma,basal cell carcinoma c.757A>G p.T253A 17:7674206-7674206 0
68 COSM10992 TP53 skin,face,carcinoma,basal cell carcinoma c.844C>G p.R282G 17:7673776-7673776 0
69 COSM43592 TP53 skin,NS,carcinoma,basal cell carcinoma c.395A>T p.K132M 17:7675217-7675217 0
70 COSM43702 TP53 skin,NS,carcinoma,basal cell carcinoma c.571C>T p.P191S 17:7674960-7674960 0
71 COSM43596 TP53 salivary gland,parotid,carcinoma,NS c.841G>A p.D281N 17:7673779-7673779 0
72 COSM44398 TP53 skin,NS,carcinoma,basal cell carcinoma c.682G>A p.D228N 17:7674281-7674281 0
73 COSM43588 TP53 skin,face,carcinoma,NS c.740A>C p.N247T 17:7674223-7674223 0
74 COSM43663 TP53 skin,NS,carcinoma,basal cell carcinoma c.826G>C p.A276P 17:7673794-7673794 0
75 COSM44120 TP53 skin,NS,carcinoma,basal cell carcinoma c.532C>T p.H178Y 17:7675080-7675080 0
76 COSM11081 TP53 skin,face,carcinoma,NS c.733G>T p.G245C 17:7674230-7674230 0
77 COSM11073 TP53 skin,NS,carcinoma,basal cell carcinoma c.1024C>T p.R342* 17:7670685-7670685 0
78 COSM44603 TP53 skin,NS,carcinoma,basal cell carcinoma c.835G>A p.G279R 17:7673785-7673785 0
79 COSM43918 TP53 salivary gland,parotid,carcinoma,NS c.809T>A p.F270Y 17:7673811-7673811 0
80 COSM45733 TP53 skin,face,carcinoma,basal cell carcinoma c.432G>A p.Q144Q 17:7675180-7675180 0
81 COSM45732 TP53 skin,NS,carcinoma,basal cell carcinoma c.480G>C p.M160I 17:7675132-7675132 0
82 COSM12296 TP53 skin,NS,carcinoma,basal cell carcinoma c.292C>T p.P98S 17:7676077-7676077 0
83 COSM43700 TP53 skin,face,carcinoma,basal cell carcinoma c.712T>A p.C238S 17:7674251-7674251 0
84 COSM10886 TP53 salivary gland,parotid,carcinoma,NS c.310C>T p.Q104* 17:7676059-7676059 0
85 COSM10863 TP53 skin,NS,carcinoma,basal cell carcinoma c.833C>T p.P278L 17:7673787-7673787 0
86 COSM10733 TP53 skin,face,carcinoma,NS c.574C>T p.Q192* 17:7674957-7674957 0
87 COSM44227 TP53 skin,face,carcinoma,basal cell carcinoma c.854A>T p.E285V 17:7673766-7673766 0
88 COSM10690 TP53 salivary gland,parotid,carcinoma,NS c.473G>A p.R158H 17:7675139-7675139 0
89 COSM44126 TP53 skin,NS,carcinoma,basal cell carcinoma c.507G>A p.M169I 17:7675105-7675105 0
90 COSM46283 TP53 salivary gland,parotid,carcinoma,NS c.569C>A p.P190H 17:7674962-7674962 0
91 COSM12013 TP53 salivary gland,parotid,carcinoma,NS c.731G>C p.G244A 17:7674232-7674232 0
92 COSM10646 TP53 salivary gland,parotid,carcinoma,NS c.725G>A p.C242Y 17:7674238-7674238 0
93 COSM43651 TP53 skin,face,carcinoma,NS c.763A>T p.I255F 17:7674200-7674200 0
94 COSM44435 TP53 skin,face,carcinoma,basal cell carcinoma c.96+1G>A p.? 17:7676381-7676381 0
95 COSM43635 TP53 skin,NS,carcinoma,basal cell carcinoma c.536A>T p.H179L 17:7675076-7675076 0
96 COSM43920 TP53 skin,face,carcinoma,basal cell carcinoma c.680C>T p.S227F 17:7674283-7674283 0
97 COSM44436 TP53 skin,face,carcinoma,basal cell carcinoma c.375+2T>C p.? 17:7675992-7675992 0
98 COSM43837 TP53 skin,NS,carcinoma,basal cell carcinoma c.843C>G p.D281E 17:7673777-7673777 0
99 COSM44094 TP53 salivary gland,parotid,carcinoma,NS c.716A>G p.N239S 17:7674247-7674247 0
100 COSM43797 TP53 salivary gland,parotid,carcinoma,NS c.550G>C p.D184H 17:7675062-7675062 0
101 COSM45734 TP53 skin,NS,carcinoma,basal cell carcinoma c.622G>T p.D208Y 17:7674909-7674909 0
102 COSM44096 TP53 skin,NS,carcinoma,basal cell carcinoma c.748C>G p.P250A 17:7674215-7674215 0
103 COSM43616 TP53 skin,NS,carcinoma,basal cell carcinoma c.704A>G p.N235S 17:7674259-7674259 0
104 COSM44310 TP53 skin,NS,carcinoma,basal cell carcinoma c.738G>A p.M246I 17:7674225-7674225 0
105 COSM11084 TP53 skin,face,carcinoma,basal cell carcinoma c.517G>A p.V173M 17:7675095-7675095 0
106 COSM46282 TP53 salivary gland,parotid,carcinoma,NS c.501G>C p.Q167H 17:7675111-7675111 0
107 COSM10779 TP53 salivary gland,parotid,carcinoma,NS c.818G>T p.R273L 17:7673802-7673802 0
108 COSM44853 TP53 salivary gland,parotid,carcinoma,NS c.661G>A p.E221K 17:7674870-7674870 0
109 COSM11059 TP53 salivary gland,parotid,carcinoma,NS c.713G>A p.C238Y 17:7674250-7674250 0
110 COSM43742 TP53 skin,face,carcinoma,basal cell carcinoma c.419C>T p.T140I 17:7675193-7675193 0
111 COSM45751 TP53 skin,NS,carcinoma,basal cell carcinoma c.511G>C p.E171Q 17:7675101-7675101 0
112 COSM10887 TP53 skin,face,carcinoma,basal cell carcinoma c.833C>G p.P278R 17:7673787-7673787 0
113 COSM12193 TP53 salivary gland,parotid,carcinoma,NS c.668C>T p.P223L 17:7674863-7674863 0
114 COSM44241 TP53 skin,face,carcinoma,basal cell carcinoma c.592G>T p.E198* 17:7674939-7674939 0
115 COSM43778 TP53 skin,NS,carcinoma,basal cell carcinoma c.713G>T p.C238F 17:7674250-7674250 0
116 COSM44130 TP53 skin,NS,carcinoma,basal cell carcinoma c.477C>T p.A159A 17:7675135-7675135 0
117 COSM5030954 TP53 salivary gland,parotid,carcinoma,NS c.260C>T p.P87L 17:7676109-7676109 0
118 COSM43695 TP53 skin,NS,carcinoma,basal cell carcinoma c.748C>T p.P250S 17:7674215-7674215 0
119 COSM43842 TP53 skin,NS,carcinoma,basal cell carcinoma c.770T>C p.L257P 17:7674193-7674193 0
120 COSM45169 TP53 skin,NS,carcinoma,basal cell carcinoma c.326T>C p.F109S 17:7676043-7676043 0
121 COSM11376 TP53 skin,NS,carcinoma,basal cell carcinoma c.737T>G p.M246R 17:7674226-7674226 0
122 COSM10758 TP53 salivary gland,parotid,carcinoma,NS c.659A>G p.Y220C 17:7674872-7674872 0
123 COSM43583 TP53 skin,NS,carcinoma,basal cell carcinoma c.425C>T p.P142L 17:7675187-7675187 0
124 COSM44606 TP53 skin,NS,carcinoma,basal cell carcinoma c.665C>T p.P222L 17:7674866-7674866 0
125 COSM45138 TP53 skin,NS,carcinoma,basal cell carcinoma c.853G>C p.E285Q 17:7673767-7673767 0
126 COSM45677 TP53 skin,face,carcinoma,NS c.714T>A p.C238* 17:7674249-7674249 0
127 COSM11564 TP53 salivary gland,parotid,carcinoma,NS c.742C>G p.R248G 17:7674221-7674221 0
128 COSM44850 TP53 salivary gland,parotid,carcinoma,NS c.494A>T p.Q165L 17:7675118-7675118 0
129 COSM44552 TP53 skin,face,carcinoma,basal cell carcinoma c.509C>T p.T170M 17:7675103-7675103 0
130 COSM1659070 TOMM34 salivary gland,parotid,carcinoma,NS c.555T>A p.P185P 20:44948873-44948873 0
131 COSM34221 TIE1 salivary gland,parotid,carcinoma,NS c.2050G>C p.A684P 1:43313257-43313257 0
132 COSM6927532 TGFBR1 skin,NS,carcinoma,basal cell carcinoma c.1255G>A p.G419R 9:99146609-99146609 0
133 COSM199708 TGFBR1 skin,NS,carcinoma,basal cell carcinoma c.1459C>T p.R487W 9:99149252-99149252 0
134 COSM607136 TGFBR1 skin,neck,carcinoma,NS c.1247C>T p.S416F 9:99146601-99146601 0
135 COSM166291 TET2 skin,NS,carcinoma,basal cell carcinoma c.5681C>T p.P1894L 4:105276191-105276191 0
136 COSM6982985 TET2 salivary gland,parotid,carcinoma,NS c.650C>T p.S217F 4:105234592-105234592 0
137 COSM3472000 TENT5C skin,NS,carcinoma,basal cell carcinoma c.1001C>T p.S334F 1:117623869-117623869 0
138 COSM6975881 TCF7L2 salivary gland,parotid,carcinoma,NS c.814C>T p.P272S 10:113151005-113151005 0
139 COSM6926867 TCF3 skin,NS,carcinoma,basal cell carcinoma c.416C>T p.S139F 19:1625659-1625659 0
140 COSM6912931 TBX3 skin,NS,carcinoma,basal cell carcinoma c.45G>A p.M15I 12:114683156-114683156 0
141 COSM1658982 TANGO6 salivary gland,parotid,carcinoma,NS c.352G>C p.G118R 16:68907540-68907540 0
142 COSM13233 SUFU skin,face,carcinoma,basal cell carcinoma c.591C>T p.F197F 10:102592718-102592718 0
143 COSM13234 SUFU skin,face,carcinoma,basal cell carcinoma c.560C>T p.P187L 10:102592687-102592687 0
144 COSM1658977 STXBP3 salivary gland,parotid,carcinoma,NS c.1275G>C p.R425S 1:108796645-108796645 0
145 COSM51520 STK11 skin,NS,carcinoma,basal cell carcinoma c.536C>T p.P179L 19:1220444-1220444 0
146 COSM6926864 STAT5B skin,NS,carcinoma,basal cell carcinoma c.2347C>T p.P783S 17:42201755-42201755 0
147 COSM1716826 STAT5B skin,NS,carcinoma,basal cell carcinoma c.1697G>A p.R566Q 17:42210481-42210481 0
148 COSM6906905 STAT5B salivary gland,parotid,carcinoma,NS c.1982G>A p.G661E 17:42207653-42207653 0
149 COSM1716827 STAT5B skin,NS,carcinoma,basal cell carcinoma c.2207C>T p.P736L 17:42202370-42202370 0
150 COSM6936926 STAT5A skin,NS,carcinoma,basal cell carcinoma c.286-1G>A p.? 17:42291971-42291971 0
151 COSM6975971 STAT5A salivary gland,parotid,carcinoma,NS c.1484C>T p.P495L 17:42306251-42306251 0
152 COSM6936928 STAT3 skin,NS,carcinoma,basal cell carcinoma c.1286C>T p.S429F 17:42326195-42326195 0
153 COSM6926758 SPEN skin,NS,carcinoma,basal cell carcinoma c.8389C>T p.P2797S 1:15934629-15934629 0
154 COSM6926757 SPEN skin,NS,carcinoma,basal cell carcinoma c.1294T>A p.F432I 1:15916178-15916178 0
155 COSM3942016 SMO skin,face,carcinoma,basal cell carcinoma c.1376C>T p.A459V 7:129209307-129209307 0
156 COSM13145 SMO skin,face,carcinoma,basal cell carcinoma c.595C>T p.R199W 7:129205260-129205260 0
157 COSM216037 SMO skin,face,carcinoma,basal cell carcinoma c.1234C>T p.L412F 7:129206557-129206557 0
158 COSM3942015 SMO skin,NS,carcinoma,basal cell carcinoma c.961G>A p.V321M 7:129206190-129206190 0
159 COSM13146 SMO skin,NS,carcinoma,basal cell carcinoma c.1604G>T p.W535L 7:129210500-129210500 0
160 COSM5731073 SMO skin,NS,carcinoma,basal cell carcinoma c.842G>T p.W281L 7:129205704-129205704 0
161 COSM6962965 SMO skin,neck,carcinoma,NS c.1103C>T p.P368L 7:129206332-129206332 0
162 COSM4413609 SMO skin,NS,carcinoma,basal cell carcinoma c.1489G>T p.G497W 7:129210385-129210385 0
163 COSM5775414 SMO skin,NS,carcinoma,basal cell carcinoma c.1222A>G p.I408V 7:129206545-129206545 0
164 COSM13144 SMO skin,face,carcinoma,basal cell carcinoma c.1598G>A p.S533N 7:129210494-129210494 0
165 COSM6909694 SMO skin,NS,carcinoma,basal cell carcinoma c.998T>G p.V333G 7:129206227-129206227 0
166 COSM13152 SMO skin,NS,carcinoma,basal cell carcinoma c.1685G>A p.R562Q 7:129210997-129210997 0
167 COSM13240 SMO skin,face,carcinoma,basal cell carcinoma c.1955C>T p.A652V 7:129212042-129212042 0
168 COSM4413608 SMO skin,NS,carcinoma,basal cell carcinoma c.1417G>T p.D473Y 7:129209348-129209348 0
169 COSM6951263 SMARCD1 skin,NS,carcinoma,basal cell carcinoma c.422G>A p.R141Q 12:50087370-50087370 0
170 COSM6912944 SMARCA4 skin,NS,carcinoma,basal cell carcinoma c.512C>T p.P171L 19:10986345-10986345 0
171 COSM6951276 SMARCA4 skin,NS,carcinoma,basal cell carcinoma c.170C>T p.P57L 19:10984321-10984321 0
172 COSM6912942 SMARCA4 skin,NS,carcinoma,basal cell carcinoma c.463G>A p.D155N 19:10986296-10986296 0
173 COSM303247 SMARCA4 skin,NS,carcinoma,basal cell carcinoma c.3574C>T p.R1192C 19:11033317-11033317 0
174 COSM1659007 SMARCA2 salivary gland,parotid,carcinoma,NS c.3476G>T p.R1159L 9:2115841-2115841 0
175 COSM1389051 SMAD4 salivary gland,parotid,carcinoma,NS c.993G>A p.M331I 18:51065460-51065460 0
176 COSM14163 SMAD4 salivary gland,parotid,carcinoma,NS c.931C>T p.Q311* 18:51059892-51059892 0
177 COSM5030960 SMAD4 salivary gland,parotid,carcinoma,NS c.527G>A p.G176E 18:51054853-51054853 0
178 COSM4468820 SMAD4 salivary gland,parotid,carcinoma,NS c.1565C>T p.P522L 18:51078373-51078373 0
179 COSM1226711 SMAD2 skin,NS,carcinoma,basal cell carcinoma c.1266G>A p.W422* 18:47845354-47845354 0
180 COSM6912936 SMAD2 skin,NS,carcinoma,basal cell carcinoma c.737C>T p.P246L 18:47851321-47851321 0
181 COSM1658856 SLC66A1 salivary gland,parotid,carcinoma,NS c.719A>C p.E240A 1:19327327-19327327 0
182 COSM1659093 SLC25A13 salivary gland,parotid,carcinoma,NS c.888G>A p.L296L 7:96189339-96189339 0
183 COSM1658944 SIK2 salivary gland,parotid,carcinoma,NS c.1387G>A p.E463K 11:111719895-111719895 0
184 COSM6926879 SH2D1A skin,NS,carcinoma,basal cell carcinoma c.192G>A p.W64* 23:124365815-124365815 0
185 COSM1658998 SF3B1 salivary gland,parotid,carcinoma,NS c.1873C>A p.R625S 2:197402760-197402760 0
186 COSM110695 SF3B1 salivary gland,parotid,carcinoma,NS c.1874G>T p.R625L 2:197402759-197402759 0
187 COSM1659012 SACS salivary gland,parotid,carcinoma,NS c.6353C>A p.S2118Y 13:23337082-23337082 0
188 COSM6926865 RPTOR skin,NS,carcinoma,basal cell carcinoma c.115A>T p.I39F 17:80545744-80545744 0
189 COSM6912934 RPTOR skin,NS,carcinoma,basal cell carcinoma c.1606G>C p.A536P 17:80883440-80883440 0
190 COSM34768 RPS6KB2 salivary gland,parotid,carcinoma,NS c.986G>A p.R329Q 11:67434214-67434214 0
191 COSM6951261 RPS6KB2 skin,NS,carcinoma,basal cell carcinoma c.901A>T p.K301* 11:67433442-67433442 0
192 COSM6926838 RPS6KA4 skin,NS,carcinoma,basal cell carcinoma c.1031C>T p.P344L 11:64365425-64365425 0
193 COSM5925307 ROS1 skin,NS,carcinoma,basal cell carcinoma c.5479C>T p.Q1827* 6:117326302-117326302 0
194 COSM6926804 ROS1 skin,NS,carcinoma,basal cell carcinoma c.1337C>T p.A446V 6:117389772-117389772 0
195 COSM6926802 ROS1 skin,NS,carcinoma,basal cell carcinoma c.4883G>A p.G1628E 6:117341419-117341419 0
196 COSM229019 ROS1 skin,NS,carcinoma,basal cell carcinoma c.3103C>T p.R1035* 6:117365075-117365075 0
197 COSM6936915 ROS1 skin,NS,carcinoma,basal cell carcinoma c.1262G>A p.G421E 6:117393224-117393224 0
198 COSM5890218 ROS1 skin,NS,carcinoma,basal cell carcinoma c.5426G>A p.G1809E 6:117326355-117326355 0
199 COSM6953786 ROS1 skin,NS,carcinoma,basal cell carcinoma c.4903-1G>A p.? 6:117341312-117341312 0
200 COSM6912908 RICTOR skin,NS,carcinoma,basal cell carcinoma c.4666G>A p.E1556K 5:38945036-38945036 0
201 COSM2849898 RHOA skin,NS,carcinoma,basal cell carcinoma c.50G>A p.G17E 3:49375540-49375540 0
202 COSM6983009 RBM10 salivary gland,parotid,carcinoma,NS c.884C>T p.S295L 23:47179478-47179478 0
203 COSM5030963 RB1 salivary gland,parotid,carcinoma,NS c.1004T>A p.L335* 13:48367558-48367558 0
204 COSM1731707 RB1 skin,face,carcinoma,NS c.1789C>T p.Q597* 13:48453086-48453086 0
205 COSM6962990 RARA skin,neck,carcinoma,NS c.1384C>T p.P462S 17:40356221-40356221 0
206 COSM1658907 RALGAPA1 salivary gland,parotid,carcinoma,NS c.1222G>A p.V408I 14:35748614-35748614 0
207 COSM6962984 RAD52 skin,neck,carcinoma,NS c.439G>A p.V147M 12:927173-927173 0
208 COSM6962994 PTPRT skin,neck,carcinoma,NS c.1607C>T p.S536L 20:42352239-42352239 0
209 COSM4493086 PTPRT skin,NS,carcinoma,basal cell carcinoma c.4108C>T p.P1370S 20:42084776-42084776 0
210 COSM6962992 PTPRT skin,neck,carcinoma,NS c.1619G>A p.G540E 20:42352227-42352227 0
211 COSM3546515 PTPRT skin,NS,carcinoma,basal cell carcinoma c.2083C>T p.L695F 20:42315779-42315779 0
212 COSM5564171 PTPRT skin,NS,carcinoma,basal cell carcinoma c.3424C>T p.R1142W 20:42106818-42106818 0
213 COSM6906909 PTPRS salivary gland,parotid,carcinoma,NS c.1993G>T p.D665Y 19:5231472-5231472 0
214 COSM6912939 PTPRS skin,NS,carcinoma,basal cell carcinoma c.2839C>T p.L947F 19:5222953-5222953 0
215 COSM4646623 PTPRS skin,NS,carcinoma,basal cell carcinoma c.2710C>T p.R904W 19:5223082-5223082 0
216 COSM6953794 PTPRD skin,NS,carcinoma,basal cell carcinoma c.942A>G p.I314M 9:8521296-8521296 0
217 COSM3395877 PTPRD skin,NS,carcinoma,basal cell carcinoma c.3925G>A p.E1309K 9:8449788-8449788 0
218 COSM6962970 PTPRD skin,neck,carcinoma,NS c.1736G>A p.S579N 9:8504347-8504347 0
219 COSM5610301 PTPRD skin,NS,carcinoma,basal cell carcinoma c.2023G>A p.E675K 9:8500859-8500859 0
220 COSM6926820 PTPRD skin,NS,carcinoma,basal cell carcinoma c.5380G>A p.D1794N 9:8331736-8331736 0
221 COSM456125 PTPRD skin,neck,carcinoma,NS c.5048C>T p.S1683F 9:8341168-8341168 0
222 COSM6926826 PTPRD skin,NS,carcinoma,basal cell carcinoma c.1774G>A p.G592S 9:8504309-8504309 0
223 COSM5610130 PTPRD skin,NS,carcinoma,basal cell carcinoma c.2131C>T p.P711S 9:8499838-8499838 0
224 COSM1700914 PTPRD skin,neck,carcinoma,NS c.1261C>T p.P421S 9:8518130-8518130 0
225 COSM6912921 PTPRD skin,NS,carcinoma,basal cell carcinoma c.2979A>C p.K993N 9:8485838-8485838 0
226 COSM5030959 PTPN11 salivary gland,parotid,carcinoma,NS c.1468G>A p.V490I 12:112489044-112489044 0
227 COSM13036 PTPN11 salivary gland,parotid,carcinoma,NS c.1520C>A p.T507K 12:112489096-112489096 0
228 COSM5123 PTEN salivary gland,parotid,carcinoma,NS c.395G>A p.G132D 10:87933154-87933154 0
229 COSM5125 PTEN salivary gland,parotid,carcinoma,NS c.755A>G p.D252G 10:87957973-87957973 0
230 COSM17598 PTCH1 skin,face,carcinoma,basal cell carcinoma c.550C>T p.Q184* 9:95485719-95485719 0
231 COSM17475 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1292T>A p.L431Q 9:95478110-95478110 0
232 COSM17495 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1229G>A p.S410N 9:95478173-95478173 0
233 COSM17511 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3583A>T p.T1195S 9:95449290-95449290 0
234 COSM17522 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3586C>T p.P1196S 9:95449287-95449287 0
235 COSM17490 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3584C>T p.T1195I 9:95449289-95449289 0
236 COSM17596 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.863G>A p.G288D 9:95480472-95480472 0
237 COSM29062 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2865C>A p.Y955* 9:95459622-95459622 0
238 COSM96958 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1930C>T p.P644S 9:95469071-95469071 0
239 COSM14439 PTCH1 skin,face,carcinoma,basal cell carcinoma c.992C>T p.S331F 9:95480044-95480044 0
240 COSM26356 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.834G>A p.W278* 9:95480501-95480501 0
241 COSM26373 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3499G>A p.G1167R 9:95449891-95449891 0
242 COSM6912923 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3758A>T p.Q1253L 9:95449115-95449115 0
243 COSM29349 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2066C>T p.P689L 9:95468935-95468935 0
244 COSM17474 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2062C>T p.Q688* 9:95468939-95468939 0
245 COSM17489 PTCH1 skin,face,carcinoma,NS c.3724G>A p.E1242K 9:95449149-95449149 0
246 COSM17584 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2105C>T p.P702L 9:95468896-95468896 0
247 COSM14456 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2778G>A p.W926* 9:95459709-95459709 0
248 COSM14446 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3054G>A p.W1018* 9:95458127-95458127 0
249 COSM17532 PTCH1 skin,face,carcinoma,basal cell carcinoma c.768G>A p.W256* 9:95480567-95480567 0
250 COSM26377 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3449+1G>A p.? 9:95453477-95453477 0
251 COSM29057 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2713C>T p.Q905* 9:95459774-95459774 0
252 COSM17473 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2308C>T p.R770* 9:95467368-95467368 0
253 COSM26368 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3046C>T p.L1016F 9:95458135-95458135 0
254 COSM17592 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3605C>T p.P1202L 9:95449268-95449268 0
255 COSM17467 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1726C>T p.Q576* 9:95476036-95476036 0
256 COSM17454 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3340A>T p.R1114W 9:95453587-95453587 0
257 COSM17599 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2120C>T p.S707F 9:95468881-95468881 0
258 COSM5939959 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.654+1G>A p.? 9:95482133-95482133 0
259 COSM17481 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.709G>A p.E237K 9:95481986-95481986 0
260 COSM26361 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.4187G>A p.G1396E 9:95447069-95447069 0
261 COSM1651689 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.250C>T p.Q84* 9:95506551-95506551 0
262 COSM26357 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3153G>A p.W1051* 9:95458028-95458028 0
263 COSM17533 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2251-1G>A p.? 9:95467426-95467426 0
264 COSM14440 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1093C>T p.Q365* 9:95479122-95479122 0
265 COSM17594 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2287G>A p.V763I 9:95467389-95467389 0
266 COSM96936 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2885G>C p.R962T 9:95459602-95459602 0
267 COSM26378 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1848-1G>A p.? 9:95469154-95469154 0
268 COSM17472 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1249C>T p.Q417* 9:95478153-95478153 0
269 COSM29033 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2038G>T p.E680* 9:95468963-95468963 0
270 COSM17434 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.523C>T p.L175F 9:95485746-95485746 0
271 COSM17468 PTCH1 skin,neck,carcinoma,basal cell carcinoma c.584G>T p.R195M 9:95485685-95485685 0
272 COSM26381 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3306+1G>A p.? 9:95456275-95456275 0
273 COSM26364 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1481C>T p.S494F 9:95477569-95477569 0
274 COSM29043 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1634G>A p.G545E 9:95476128-95476128 0
275 COSM29071 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3549+5G>A p.? 9:95449836-95449836 0
276 COSM29045 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3168+5G>T p.? 9:95458008-95458008 0
277 COSM29046 PTCH1 skin,face,carcinoma,basal cell carcinoma c.747-1G>A p.? 9:95480589-95480589 0
278 COSM96966 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2561-1G>A p.? 9:95461999-95461999 0
279 COSM17608 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1161G>A p.W387* 9:95479054-95479054 0
280 COSM96957 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.713G>A p.G238E 9:95481982-95481982 0
281 COSM14455 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3590C>T p.S1197F 9:95449283-95449283 0
282 COSM26363 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2446C>T p.Q816* 9:95467230-95467230 0
283 COSM17597 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1977G>A p.Q659Q 9:95469024-95469024 0
284 COSM29053 PTCH1 skin,neck,carcinoma,basal cell carcinoma c.833G>A p.W278* 9:95480502-95480502 0
285 COSM17582 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1082A>C p.Q361P 9:95479133-95479133 0
286 COSM29040 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2693A>G p.D898G 9:95461866-95461866 0
287 COSM17493 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1316T>C p.V439A 9:95478086-95478086 0
288 COSM29068 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1603-1G>A p.? 9:95476160-95476160 0
289 COSM6926831 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.584+1G>A p.? 9:95485684-95485684 0
290 COSM24852 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1615G>T p.E539* 9:95476147-95476147 0
291 COSM17552 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1196G>A p.W399* 9:95479019-95479019 0
292 COSM1651688 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.451G>A p.A151T 9:95485818-95485818 0
293 COSM17476 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.707G>A p.W236* 9:95481988-95481988 0
294 COSM29055 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2050G>T p.E684* 9:95468951-95468951 0
295 COSM29048 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1347+1G>A p.? 9:95478054-95478054 0
296 COSM17456 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1160G>A p.W387* 9:95479055-95479055 0
297 COSM17547 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1511C>A p.P504Q 9:95476850-95476850 0
298 COSM29072 PTCH1 skin,neck,carcinoma,basal cell carcinoma c.1067+1G>A p.? 9:95479968-95479968 0
299 COSM144232 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3209T>G p.M1070R 9:95456373-95456373 0
300 COSM17455 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.666T>A p.Y222* 9:95482029-95482029 0
301 COSM29052 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.724C>T p.Q242* 9:95481971-95481971 0
302 COSM96964 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2588G>A p.W863* 9:95461971-95461971 0
303 COSM6951255 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.785T>A p.L262* 9:95480550-95480550 0
304 COSM14452 PTCH1 skin,neck,carcinoma,basal cell carcinoma c.2321G>A p.G774E 9:95467355-95467355 0
305 COSM17480 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1847G>A p.S616N 9:95469813-95469813 0
306 COSM17460 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3917C>T p.P1306L 9:95447339-95447339 0
307 COSM26365 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.475A>T p.I159L 9:95485794-95485794 0
308 COSM96960 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3592C>T p.P1198S 9:95449281-95449281 0
309 COSM17602 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1922C>T p.P641L 9:95469079-95469079 0
310 COSM144244 PTCH1 skin,face,carcinoma,basal cell carcinoma c.994A>T p.R332* 9:95480042-95480042 0
311 COSM1651750 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3169-2A>G p.? 9:95456415-95456415 0
312 COSM17498 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2033C>T p.T678I 9:95468968-95468968 0
313 COSM17520 PTCH1 skin,face,carcinoma,basal cell carcinoma c.584G>A p.R195K 9:95485685-95485685 0
314 COSM17453 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3196G>T p.E1066* 9:95456386-95456386 0
315 COSM26370 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.286A>T p.K96* 9:95506515-95506515 0
316 COSM17519 PTCH1 skin,face,carcinoma,basal cell carcinoma c.463C>T p.P155S 9:95485806-95485806 0
317 COSM29147 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1356T>G p.Y452* 9:95477694-95477694 0
318 COSM17494 PTCH1 skin,face,carcinoma,basal cell carcinoma c.754C>T p.P252S 9:95480581-95480581 0
319 COSM17462 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1068-2A>T p.? 9:95479149-95479149 0
320 COSM29061 PTCH1 skin,face,carcinoma,basal cell carcinoma c.493G>T p.E165* 9:95485776-95485776 0
321 COSM29054 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.387G>A p.W129* 9:95506414-95506414 0
322 COSM144239 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1854C>A p.C618* 9:95469147-95469147 0
323 COSM1651687 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2557C>T p.Q853* 9:95467119-95467119 0
324 COSM17585 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2008C>T p.P670S 9:95468993-95468993 0
325 COSM14467 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3236G>T p.S1079I 9:95456346-95456346 0
326 COSM26369 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1439C>G p.S480* 9:95477611-95477611 0
327 COSM17497 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1433C>T p.A478V 9:95477617-95477617 0
328 COSM17492 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1085C>T p.T362I 9:95479130-95479130 0
329 COSM17530 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2965G>T p.E989* 9:95458216-95458216 0
330 COSM14464 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1804C>T p.R602* 9:95469856-95469856 0
331 COSM96965 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2812C>T p.Q938* 9:95459675-95459675 0
332 COSM17496 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2072C>T p.T691I 9:95468929-95468929 0
333 COSM5989692 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.4048C>T p.R1350W 9:95447208-95447208 0
334 COSM144245 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1585A>T p.K529* 9:95476776-95476776 0
335 COSM17600 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2207C>T p.A736V 9:95468794-95468794 0
336 COSM1651749 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3450-1G>A p.? 9:95449941-95449941 0
337 COSM26372 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2372T>C p.I791T 9:95467304-95467304 0
338 COSM29348 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1450G>A p.G484R 9:95477600-95477600 0
339 COSM96963 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1703C>T p.P568L 9:95476059-95476059 0
340 COSM17459 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2042C>T p.P681L 9:95468959-95468959 0
341 COSM17477 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3487G>A p.G1163S 9:95449903-95449903 0
342 COSM29051 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.478C>T p.Q160* 9:95485791-95485791 0
343 COSM17483 PTCH1 skin,neck,carcinoma,basal cell carcinoma c.1729-1G>T p.? 9:95469932-95469932 0
344 COSM17601 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2011C>T p.H671Y 9:95468990-95468990 0
345 COSM14460 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2364T>A p.Y788* 9:95467312-95467312 0
346 COSM17551 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1396C>T p.Q466* 9:95477654-95477654 0
347 COSM26367 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.445G>T p.E149* 9:95485824-95485824 0
348 COSM96959 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.2048C>T p.S683F 9:95468953-95468953 0
349 COSM17548 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.3499G>T p.G1167W 9:95449891-95449891 0
350 COSM24853 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1688C>T p.A563V 9:95476074-95476074 0
351 COSM17521 PTCH1 skin,NS,carcinoma,basal cell carcinoma c.1993C>G p.R665G 9:95469008-95469008 0
352 COSM6172265 PRDM1 skin,NS,carcinoma,basal cell carcinoma c.271C>T p.P91S 6:106095702-106095702 0
353 COSM6951271 PPM1D skin,NS,carcinoma,basal cell carcinoma c.674G>A p.R225K 17:60623722-60623722 0
354 COSM6926852 POLE skin,NS,carcinoma,basal cell carcinoma c.4367C>T p.S1456L 12:132643484-132643484 0
355 COSM6926874 POLD1 skin,NS,carcinoma,basal cell carcinoma c.2096C>T p.S699F 19:50409608-50409608 0
356 COSM40483 POLD1 skin,NS,carcinoma,basal cell carcinoma c.2734C>T p.P912S 19:50415740-50415740 0
357 COSM1659025 PODN salivary gland,parotid,carcinoma,NS c.950T>A p.L317Q 1:53077752-53077752 0
358 COSM6965461 PLK2 salivary gland,parotid,carcinoma,NS c.262C>A p.L88M 5:58459698-58459698 0
359 COSM4543732 PLCG2 skin,NS,carcinoma,basal cell carcinoma c.3430G>A p.D1144N 16:81940008-81940008 0
360 COSM6951268 PLCG2 skin,NS,carcinoma,basal cell carcinoma c.67G>A p.E23K 16:81786056-81786056 0
361 COSM6962989 PLCG2 skin,neck,carcinoma,NS c.115G>T p.E39* 16:81786104-81786104 0
362 COSM1659052 PLCB4 salivary gland,parotid,carcinoma,NS c.2776A>T p.K926* 20:9444028-9444028 0
363 COSM6953790 PIK3CG skin,NS,carcinoma,basal cell carcinoma c.785C>T p.P262L 7:106868346-106868346 0
364 COSM6912915 PIK3CG skin,NS,carcinoma,basal cell carcinoma c.1024C>T p.H342Y 7:106868585-106868585 0
365 COSM6962963 PIK3CG skin,neck,carcinoma,NS c.310G>A p.G104R 7:106867871-106867871 0
366 COSM6926809 PIK3CG skin,NS,carcinoma,basal cell carcinoma c.202G>A p.E68K 7:106867763-106867763 0
367 COSM6962964 PIK3CG skin,neck,carcinoma,NS c.3227G>A p.R1076K 7:106905305-106905305 0
368 COSM6953791 PIK3CG skin,NS,carcinoma,basal cell carcinoma c.3172G>A p.G1058R 7:106905250-106905250 0
369 COSM6056498 PIK3CD skin,NS,carcinoma,basal cell carcinoma c.1495G>A p.E499K 1:9720635-9720635 0
370 COSM6926779 PIK3CB skin,NS,carcinoma,basal cell carcinoma c.934C>T p.P312S 3:138734672-138734672 0
371 COSM775 PIK3CA salivary gland,parotid,carcinoma,NS c.3140A>G p.H1047R 3:179234297-179234297 0
372 COSM5030972 PIK3CA salivary gland,parotid,carcinoma,NS c.2119G>A p.E707K 3:179221089-179221089 0
373 COSM760 PIK3CA salivary gland,parotid,carcinoma,NS c.1624G>A p.E542K 3:179218294-179218294 0
374 COSM5030947 PIK3CA salivary gland,parotid,carcinoma,NS c.1225G>C p.V409L 3:179209674-179209674 0
375 COSM763 PIK3CA salivary gland,parotid,carcinoma,NS c.1633G>A p.E545K 3:179218303-179218303 0
376 COSM748 PIK3CA skin,NS,carcinoma,basal cell carcinoma c.317G>T p.G106V 3:179199142-179199142 0
377 COSM754 PIK3CA salivary gland,parotid,carcinoma,NS c.1035T>A p.N345K 3:179203765-179203765 0
378 COSM12597 PIK3CA salivary gland,parotid,carcinoma,NS c.3145G>C p.G1049R 3:179234302-179234302 0
379 COSM13570 PIK3CA salivary gland,parotid,carcinoma,NS c.331A>G p.K111E 3:179199156-179199156 0
380 COSM6926866 PIK3C3 skin,NS,carcinoma,basal cell carcinoma c.313C>T p.Q105* 18:41962544-41962544 0
381 COSM6912935 PIK3C3 skin,NS,carcinoma,basal cell carcinoma c.1216G>A p.E406K 18:42013487-42013487 0
382 COSM34220 PI4KA salivary gland,parotid,carcinoma,NS c.2828T>G p.L943R 22:20751741-20751741 0
383 COSM6926780 PHOX2B skin,NS,carcinoma,basal cell carcinoma c.890C>T p.S297L 4:41745862-41745862 0
384 COSM3212050 PDGFRB skin,NS,carcinoma,basal cell carcinoma c.3001C>T p.P1001S 5:150117754-150117754 0
385 COSM6927530 PDGFRB skin,NS,carcinoma,basal cell carcinoma c.2890G>A p.E964K 5:150118761-150118761 0
386 COSM6912912 PDGFRB skin,NS,carcinoma,basal cell carcinoma c.2596C>T p.P866S 5:150120114-150120114 0
387 COSM6936906 PARP1 skin,NS,carcinoma,basal cell carcinoma c.232C>T p.R78W 1:226402268-226402268 0
388 COSM1659056 PAPPA2 salivary gland,parotid,carcinoma,NS c.2473C>T p.R825* 1:176692167-176692167 0
389 COSM6937135 NTRK2 skin,NS,carcinoma,basal cell carcinoma c.1588C>T p.P530S 9:84867386-84867386 0
390 COSM6982989 NSD1 salivary gland,parotid,carcinoma,NS c.7306G>C p.E2436Q 5:177294674-177294674 0
391 COSM585 NRAS skin,face,carcinoma,NS c.183A>T p.Q61H 1:114713907-114713907 0
392 COSM564 NRAS skin,NS,carcinoma,basal cell carcinoma c.35G>A p.G12D 1:114716126-114716126 0
393 COSM6903909 NRAS skin,face,carcinoma,NS c.443C>T p.T148I 1:114709576-114709576 0
394 COSM253327 NRAS salivary gland,parotid,carcinoma,NS c.176C>A p.A59D 1:114713914-114713914 0
395 COSM583 NRAS salivary gland,parotid,carcinoma,NS c.182A>T p.Q61L 1:114713908-114713908 0
396 COSM574 NRAS skin,face,carcinoma,NS c.38G>T p.G13V 1:114716123-114716123 0
397 COSM6921920 NPM1 skin,NS,carcinoma,basal cell carcinoma c.584C>T p.S195F 5:171400840-171400840 0
398 COSM5609653 NOTCH3 skin,NS,carcinoma,basal cell carcinoma c.2224C>T p.P742S 19:15185329-15185329 0
399 COSM6936931 NOTCH3 skin,NS,carcinoma,basal cell carcinoma c.6196C>T p.P2066S 19:15161432-15161432 0
400 COSM1667036 NOTCH2 skin,face,carcinoma,NS c.337C>T p.R113* 1:120005407-120005407 0
401 COSM6903985 NOTCH2 skin,face,carcinoma,NS c.5524T>C p.S1842P 1:119919569-119919569 0
402 COSM6903873 NOTCH2 skin,face,carcinoma,NS c.5141G>A p.G1714D 1:119922308-119922308 0
403 COSM6903860 NOTCH2 skin,face,carcinoma,NS c.4418G>T p.W1473L 1:119925398-119925398 0
404 COSM6903872 NOTCH2 skin,face,carcinoma,NS c.5140G>A p.G1714S 1:119922309-119922309 0
405 COSM6903875 NOTCH2 skin,face,carcinoma,NS c.5266G>A p.E1756K 1:119921757-119921757 0
406 COSM6903891 NOTCH2 skin,face,carcinoma,NS c.5942T>C p.L1981P 1:119917750-119917750 0
407 COSM6903836 NOTCH2 skin,face,carcinoma,NS c.2314T>C p.C772R 1:119953594-119953594 0
408 COSM6903889 NOTCH2 skin,NS,carcinoma,basal cell carcinoma c.5930-1G>C p.? 1:119917763-119917763 0
409 COSM6903876 NOTCH2 skin,face,carcinoma,NS c.5449G>A p.D1817N 1:119920259-119920259 0
410 COSM6903835 NOTCH2 skin,face,carcinoma,NS c.2234G>A p.C745Y 1:119953674-119953674 0
411 COSM6903838 NOTCH2 skin,face,carcinoma,NS c.2414T>C p.L805P 1:119950789-119950789 0
412 COSM6903841 NOTCH2 skin,face,carcinoma,NS c.2602C>G p.Q868E 1:119948564-119948564 0
413 COSM6903870 NOTCH2 skin,face,carcinoma,NS c.5006A>G p.E1669G 1:119922443-119922443 0
414 COSM6903823 NOTCH2 skin,face,carcinoma,NS c.1060A>G p.I354V 1:119969559-119969559 0
415 COSM6903877 NOTCH2 skin,face,carcinoma,NS c.5468T>C p.V1823A 1:119920240-119920240 0
416 COSM6912888 NOTCH2 skin,NS,carcinoma,basal cell carcinoma c.1109G>A p.G370D 1:119968232-119968232 0
417 COSM6903986 NOTCH2 skin,face,carcinoma,NS c.5524T>A p.S1842T 1:119919569-119919569 0
418 COSM5888593 NOTCH2 skin,NS,carcinoma,basal cell carcinoma c.2636C>T p.S879F 1:119948530-119948530 0
419 COSM6903905 NOTCH2 skin,face,carcinoma,NS c.7097C>T p.A2366V 1:119915625-119915625 0
420 COSM6903887 NOTCH2 skin,face,carcinoma,NS c.5836A>G p.T1946A 1:119918499-119918499 0
421 COSM6903904 NOTCH2 skin,face,carcinoma,NS c.7085A>G p.D2362G 1:119915637-119915637 0
422 COSM6903844 NOTCH2 skin,face,carcinoma,NS c.2987G>A p.C996Y 1:119940751-119940751 0
423 COSM6926759 NOTCH2 skin,NS,carcinoma,basal cell carcinoma c.2027-1G>A p.? 1:119955233-119955233 0
424 COSM6903633 NOTCH1 skin,face,carcinoma,NS c.3394C>T p.R1132C 9:136508071-136508071 0
425 COSM6926835 NOTCH1 skin,NS,carcinoma,basal cell carcinoma c.3571C>T p.P1191S 9:136507377-136507377 0
426 COSM6903601 NOTCH1 skin,face,carcinoma,NS c.2609T>C p.I870T 9:136510784-136510784 0
427 COSM6903681 NOTCH1 skin,face,carcinoma,NS c.4211A>G p.E1404G 9:136505685-136505685 0
428 COSM6903579 NOTCH1 skin,face,carcinoma,NS c.1714C>A p.P572T 9:136515672-136515672 0
429 COSM6903739 NOTCH1 skin,face,carcinoma,NS c.5065T>C p.S1689P 9:136503284-136503284 0
430 COSM4855290 NOTCH1 skin,face,carcinoma,NS c.1400G>A p.C467Y 9:136517793-136517793 0
431 COSM327180 NOTCH1 skin,face,carcinoma,NS c.5554G>A p.D1852N 9:136501832-136501832 0
432 COSM4520346 NOTCH1 skin,face,carcinoma,NS c.1054G>A p.D352N 9:136518636-136518636 0
433 COSM6903621 NOTCH1 skin,face,carcinoma,NS c.3154A>C p.T1052P 9:136508887-136508887 0
434 COSM3215909 NOTCH1 skin,face,carcinoma,NS c.5879T>C p.M1960T 9:136500607-136500607 0
435 COSM6903735 NOTCH1 skin,face,carcinoma,NS c.5045A>T p.N1682I 9:136503304-136503304 0
436 COSM6951259 NOTCH1 skin,NS,carcinoma,basal cell carcinoma c.689G>A p.G230E 9:136522903-136522903 0
437 COSM6903569 NOTCH1 skin,face,carcinoma,NS c.1486A>G p.S496G 9:136517341-136517341 0
438 COSM6903667 NOTCH1 skin,face,carcinoma,NS c.4132T>C p.F1378L 9:136505764-136505764 0
439 COSM5030961 NOTCH1 salivary gland,parotid,carcinoma,NS c.4715G>A p.G1572D 9:136504976-136504976 0
440 COSM6903517 NOTCH1 skin,face,carcinoma,NS c.199C>T p.P67S 9:136523921-136523921 0
441 COSM6903519 NOTCH1 skin,face,carcinoma,NS c.200C>T p.P67L 9:136523920-136523920 0
442 COSM6903513 NOTCH1 skin,face,carcinoma,NS c.108G>T p.K36N 9:136544056-136544056 0
443 COSM6903703 NOTCH1 skin,face,carcinoma,NS c.4417G>T p.G1473C 9:136505479-136505479 0
444 COSM6903511 NOTCH1 skin,face,carcinoma,NS c.65C>G p.P22R 9:136544099-136544099 0
445 COSM139812 NOTCH1 skin,face,carcinoma,NS c.2468-1G>A p.? 9:136511272-136511272 0
446 COSM6903515 NOTCH1 skin,face,carcinoma,NS c.113A>G p.E38G 9:136544051-136544051 0
447 COSM6903581 NOTCH1 skin,face,carcinoma,NS c.1847G>A p.G616D 9:136515539-136515539 0
448 COSM6903637 NOTCH1 skin,face,carcinoma,NS c.3556G>A p.E1186K 9:136507392-136507392 0
449 COSM6903721 NOTCH1 skin,face,carcinoma,NS c.4546T>G p.F1516V 9:136505350-136505350 0
450 COSM6903689 NOTCH1 skin,face,carcinoma,NS c.4309G>A p.G1437R 9:136505587-136505587 0
451 COSM5609565 NOTCH1 skin,face,carcinoma,NS c.751G>A p.G251S 9:136519557-136519557 0
452 COSM6903705 NOTCH1 skin,face,carcinoma,NS c.4417G>A p.G1473S 9:136505479-136505479 0
453 COSM6903788 NOTCH1 skin,face,carcinoma,NS c.7022C>T p.S2341F 9:136496717-136496717 0
454 COSM6953803 NOTCH1 skin,NS,carcinoma,basal cell carcinoma c.1339C>T p.P447S 9:136517854-136517854 0
455 COSM6903599 NOTCH1 skin,face,carcinoma,NS c.2578G>A p.G860S 9:136511161-136511161 0
456 COSM6903587 NOTCH1 skin,face,carcinoma,NS c.1903G>A p.G635R 9:136515483-136515483 0
457 COSM99651 NOTCH1 skin,face,carcinoma,NS c.1093C>T p.R365C 9:136518597-136518597 0
458 COSM6903605 NOTCH1 skin,face,carcinoma,NS c.2712C>G p.C904W 9:136510681-136510681 0
459 COSM5884808 NOTCH1 skin,face,carcinoma,NS c.4156C>A p.P1386T 9:136505740-136505740 0
460 COSM6903619 NOTCH1 skin,face,carcinoma,NS c.3055C>T p.Q1019* 9:136508986-136508986 0
461 COSM6903695 NOTCH1 skin,face,carcinoma,NS c.4355C>T p.P1452L 9:136505541-136505541 0
462 COSM6903709 NOTCH1 skin,face,carcinoma,NS c.4424A>C p.D1475A 9:136505472-136505472 0
463 COSM6903741 NOTCH1 skin,face,carcinoma,NS c.5141T>C p.I1714T 9:136503208-136503208 0
464 COSM6903535 NOTCH1 skin,face,carcinoma,NS c.968G>T p.C323F 9:136518722-136518722 0
465 COSM6903611 NOTCH1 skin,face,carcinoma,NS c.2791T>C p.C931R 9:136509911-136509911 0
466 COSM6903629 NOTCH1 skin,face,carcinoma,NS c.3289C>T p.P1097S 9:136508268-136508268 0
467 COSM6903661 NOTCH1 skin,face,carcinoma,NS c.4088G>A p.C1363Y 9:136505808-136505808 0
468 COSM6903797 NOTCH1 skin,face,carcinoma,NS c.7503G>C p.Q2501H 9:136496236-136496236 0
469 COSM6903795 NOTCH1 skin,face,carcinoma,NS c.7405C>A p.P2469T 9:136496334-136496334 0
470 COSM6903764 NOTCH1 skin,face,carcinoma,NS c.5932C>T p.Q1978* 9:136500554-136500554 0
471 COSM2936617 NF2 skin,NS,carcinoma,basal cell carcinoma c.404C>T p.P135L 22:29642242-29642242 0
472 COSM21991 NF2 skin,NS,carcinoma,basal cell carcinoma c.169C>T p.R57* 22:29636805-29636805 0
473 COSM6951270 NF1 skin,NS,carcinoma,basal cell carcinoma c.6099T>A p.D2033E 17:31336425-31336425 0
474 COSM6983002 NF1 salivary gland,parotid,carcinoma,NS c.503C>A p.S168* 17:31169914-31169914 0
475 COSM220104 NF1 skin,NS,carcinoma,basal cell carcinoma c.4108C>T p.Q1370* 17:31249117-31249117 0
476 COSM6965464 NF1 salivary gland,parotid,carcinoma,NS c.5269-1G>C p.? 17:31327498-31327498 0
477 COSM6936905 NEGR1 skin,NS,carcinoma,basal cell carcinoma c.713G>A p.G238E 1:71611101-71611101 0
478 COSM4559546 NEGR1 skin,NS,carcinoma,basal cell carcinoma c.809G>A p.G270E 1:71592948-71592948 0
479 COSM6906903 NCOR1 salivary gland,parotid,carcinoma,NS c.3479C>T p.S1160F 17:16079986-16079986 0
480 COSM6951277 NCOA3 skin,NS,carcinoma,basal cell carcinoma c.893G>A p.R298Q 20:47633565-47633565 0
481 COSM6964223 NCOA3 salivary gland,parotid,carcinoma,NS c.3692G>C p.R1231T 20:47651022-47651022 0
482 COSM6962996 NCOA3 skin,neck,carcinoma,NS c.979C>T p.H327Y 20:47634062-47634062 0
483 COSM6926876 NCOA3 skin,NS,carcinoma,basal cell carcinoma c.47G>A p.R16Q 20:47622294-47622294 0
484 COSM6953823 NCOA3 skin,NS,carcinoma,basal cell carcinoma c.2302C>T p.Q768* 20:47636688-47636688 0
485 COSM1659072 MYT1 salivary gland,parotid,carcinoma,NS c.2559C>A p.G853G 20:64227445-64227445 0
486 COSM1659064 MYOD1 salivary gland,parotid,carcinoma,NS c.178G>T p.E60* 11:17719960-17719960 0
487 COSM1659028 MYO5B salivary gland,parotid,carcinoma,NS c.2234A>G p.K745R 18:49906599-49906599 0
488 COSM35624 MYCN skin,NS,carcinoma,basal cell carcinoma c.131C>T p.P44L 2:15942195-15942195 0
489 COSM6926817 MYC skin,NS,carcinoma,basal cell carcinoma c.1127C>T p.A376V 8:127740765-127740765 0
490 COSM6926756 MTOR skin,NS,carcinoma,basal cell carcinoma c.4229C>T p.P1410L 1:11199282-11199282 0
491 COSM6912886 MTOR skin,NS,carcinoma,basal cell carcinoma c.3418G>C p.D1140H 1:11212455-11212455 0
492 COSM4170532 MTOR skin,neck,carcinoma,NS c.3409G>A p.E1137K 1:11212464-11212464 0
493 COSM6951240 MTOR skin,NS,carcinoma,basal cell carcinoma c.2020T>A p.C674S 1:11238031-11238031 0
494 COSM6906899 MRE11 salivary gland,parotid,carcinoma,NS c.1673C>T p.S558F 11:94447329-94447329 0
495 COSM1658991 MKKS salivary gland,parotid,carcinoma,NS c.800C>G p.S267C 20:10412715-10412715 0
496 COSM6981266 MGA salivary gland,parotid,carcinoma,NS c.8834C>A p.S2945Y 15:41766769-41766769 0
497 COSM6982999 MGA salivary gland,parotid,carcinoma,NS c.285G>A p.M95I 15:41669179-41669179 0
498 COSM6983000 MGA salivary gland,parotid,carcinoma,NS c.7985C>G p.S2662* 15:41764979-41764979 0
499 COSM261995 MGA skin,NS,carcinoma,basal cell carcinoma c.3724C>T p.R1242* 15:41729230-41729230 0
500 COSM6926854 MGA skin,NS,carcinoma,basal cell carcinoma c.7537C>T p.L2513F 15:41760521-41760521 0
501 COSM6953828 MED12 skin,NS,carcinoma,basal cell carcinoma c.2158G>A p.G720R 23:71125078-71125078 0
502 COSM1658897 MED12 salivary gland,parotid,carcinoma,NS c.3745C>G p.L1249V 23:71129733-71129733 0
503 COSM6951285 MED12 skin,NS,carcinoma,basal cell carcinoma c.3896C>T p.S1299F 23:71130063-71130063 0
504 COSM6912956 MED12 skin,NS,carcinoma,basal cell carcinoma c.5658G>A p.M1886I 23:71137293-71137293 0
505 COSM6926847 MDM2 skin,NS,carcinoma,basal cell carcinoma c.1276C>T p.Q426* 12:68839631-68839631 0
506 COSM6926859 MAPK3 skin,NS,carcinoma,basal cell carcinoma c.796C>T p.Q266* 16:30117265-30117265 0
507 COSM516 KRAS skin,NS,carcinoma,basal cell carcinoma c.34G>T p.G12C 12:25245351-25245351 0
508 COSM521 KRAS skin,face,carcinoma,NS c.35G>A p.G12D 12:25245350-25245350 0
509 COSM6903505 KRAS skin,face,carcinoma,NS c.229G>A p.G77S 12:25227295-25227295 0
510 COSM6926841 KRAS skin,NS,carcinoma,basal cell carcinoma c.122G>A p.R41K 12:25227402-25227402 0
511 COSM98455 KRAS salivary gland,parotid,carcinoma,NS c.204G>C p.R68S 12:25227320-25227320 0
512 COSM520 KRAS skin,NS,carcinoma,basal cell carcinoma c.35G>T p.G12V 12:25245350-25245350 0
513 COSM553 KRAS skin,NS,carcinoma,basal cell carcinoma c.182A>T p.Q61L 12:25227342-25227342 0
514 COSM1659055 KNTC1 salivary gland,parotid,carcinoma,NS c.3149C>G p.S1050* 12:122582871-122582871 0
515 COSM6926846 KMT2D skin,NS,carcinoma,basal cell carcinoma c.3223C>T p.P1075S 12:49048748-49048748 0
516 COSM6909696 KMT2D skin,NS,carcinoma,basal cell carcinoma c.14302G>T p.E4768* 12:49026854-49026854 0
517 COSM6907251 KMT2D skin,NS,carcinoma,basal cell carcinoma c.15706G>A p.E5236K 12:49022048-49022048 0
518 COSM220680 KMT2D skin,NS,carcinoma,basal cell carcinoma c.12796C>T p.R4266* 12:49030958-49030958 0
519 COSM6926844 KMT2D skin,NS,carcinoma,basal cell carcinoma c.6893C>T p.P2298L 12:49040067-49040067 0
520 COSM6936919 KMT2D skin,NS,carcinoma,basal cell carcinoma c.10537C>T p.Q3513* 12:49033358-49033358 0
521 COSM6926813 KMT2C skin,NS,carcinoma,basal cell carcinoma c.6350C>T p.S2117F 7:152181510-152181510 0
522 COSM1087613 KMT2C skin,NS,carcinoma,basal cell carcinoma c.3899G>A p.R1300K 7:152205168-152205168 0
523 COSM6981265 KMT2C salivary gland,parotid,carcinoma,NS c.13253G>A p.R4418K 7:152148674-152148674 0
524 COSM6926811 KMT2C skin,NS,carcinoma,basal cell carcinoma c.6935C>T p.S2312F 7:152180925-152180925 0
525 COSM6906897 KMT2C salivary gland,parotid,carcinoma,NS c.440A>T p.Q147L 7:152315288-152315288 0
526 COSM6912917 KMT2C skin,NS,carcinoma,basal cell carcinoma c.14138C>T p.P4713L 7:152145189-152145189 0
527 COSM6912919 KMT2C skin,NS,carcinoma,basal cell carcinoma c.12305C>T p.S4102F 7:152152926-152152926 0
528 COSM6962967 KMT2C skin,neck,carcinoma,NS c.11659C>T p.H3887Y 7:152158874-152158874 0
529 COSM6962983 KMT2A skin,neck,carcinoma,NS c.4377T>G p.C1459W 11:118488658-118488658 0
530 COSM1658870 KLF5 salivary gland,parotid,carcinoma,NS c.1253A>T p.D418V 13:73075765-73075765 0
531 COSM51380 KIT salivary gland,parotid,carcinoma,NS c.1990G>A p.G664R 4:54728121-54728121 0
532 COSM51381 KIT salivary gland,face,carcinoma,NS c.2386A>G p.R796G 4:54733094-54733094 0
533 COSM33972 KIT salivary gland,parotid,carcinoma,NS c.1915T>C p.S639P 4:54728046-54728046 0
534 COSM33975 KIT salivary gland,parotid,carcinoma,NS c.2465A>G p.N822S 4:54733173-54733173 0
535 COSM6926781 KIT skin,NS,carcinoma,basal cell carcinoma c.2597G>A p.G866E 4:54736721-54736721 0
536 COSM33967 KIT salivary gland,parotid,carcinoma,NS c.1738C>T p.H580Y 4:54727506-54727506 0
537 COSM33965 KIT salivary gland,parotid,carcinoma,NS c.1652C>T p.P551L 4:54727420-54727420 0
538 COSM33966 KIT salivary gland,parotid,carcinoma,NS c.1726C>T p.L576F 4:54727494-54727494 0
539 COSM75106 KDR skin,NS,carcinoma,basal cell carcinoma c.538G>A p.D180N 4:55114994-55114994 0
540 COSM6953780 KDR skin,NS,carcinoma,basal cell carcinoma c.383C>T p.S128F 4:55115387-55115387 0
541 COSM6926782 KDR skin,NS,carcinoma,basal cell carcinoma c.367T>G p.S123A 4:55115403-55115403 0
542 COSM6951279 KDM6A skin,NS,carcinoma,basal cell carcinoma c.748+2T>G p.? 23:45051804-45051804 0
543 COSM6963776 KDM5C salivary gland,parotid,carcinoma,NS c.455T>A p.L152* 23:53217863-53217863 0
544 COSM6981270 KDM5C salivary gland,parotid,carcinoma,NS c.250A>C p.N84H 23:53218377-53218377 0
545 COSM6912930 KDM5A skin,NS,carcinoma,basal cell carcinoma c.1912G>A p.E638K 12:328891-328891 0
546 COSM6906901 KDM5A salivary gland,parotid,carcinoma,NS c.4055C>T p.T1352I 12:306965-306965 0
547 COSM6982998 KDM5A salivary gland,parotid,carcinoma,NS c.2612C>G p.S871C 12:318391-318391 0
548 COSM6926870 JAK3 skin,NS,carcinoma,basal cell carcinoma c.1448C>T p.S483F 19:17838384-17838384 0
549 COSM6983006 JAK3 salivary gland,parotid,carcinoma,NS c.2605C>T p.Q869* 19:17832594-17832594 0
550 COSM3099047 JAK3 skin,NS,carcinoma,basal cell carcinoma c.59C>T p.S20F 19:17844359-17844359 0
551 COSM911557 JAK1 salivary gland,parotid,carcinoma,NS c.2263C>T p.R755* 1:64844204-64844204 0
552 COSM6936904 JAK1 skin,NS,carcinoma,basal cell carcinoma c.160G>A p.E54K 1:64883322-64883322 0
553 COSM6953818 INSR skin,NS,carcinoma,basal cell carcinoma c.4036G>A p.G1346R 19:7117169-7117169 0
554 COSM6936929 INSR skin,NS,carcinoma,basal cell carcinoma c.4012G>T p.E1338* 19:7117193-7117193 0
555 COSM6912902 INPP4B skin,NS,carcinoma,basal cell carcinoma c.1084G>A p.D362N 4:142193184-142193184 0
556 COSM137413 INPP4B skin,NS,carcinoma,basal cell carcinoma c.407C>T p.P136L 4:142314728-142314728 0
557 COSM6926785 INPP4B skin,NS,carcinoma,basal cell carcinoma c.1462C>G p.P488A 4:142160459-142160459 0
558 COSM6912894 INPP4A skin,NS,carcinoma,basal cell carcinoma c.764C>T p.S255F 2:98539621-98539621 0
559 COSM6906894 INPP4A salivary gland,parotid,carcinoma,NS c.512G>A p.W171* 2:98537907-98537907 0
560 COSM6982986 IL7R salivary gland,parotid,carcinoma,NS c.864G>C p.K288N 5:35875575-35875575 0
561 COSM3969364 IGF1R salivary gland,parotid,carcinoma,NS c.1664A>G p.D555G 15:98913118-98913118 0
562 COSM34039 IDH2 salivary gland,parotid,carcinoma,NS c.514A>T p.R172W 15:90088607-90088607 0
563 COSM6912896 IDH1 skin,NS,carcinoma,basal cell carcinoma c.679T>G p.F227V 2:208243446-208243446 0
564 COSM6926764 IDH1 skin,NS,carcinoma,basal cell carcinoma c.1013G>A p.R338K 2:208239212-208239212 0
565 COSM499 HRAS salivary gland,parotid,carcinoma,NS c.182A>G p.Q61R 11:533874-533874 0
566 COSM483 HRAS skin,NS,carcinoma,basal cell carcinoma c.35G>T p.G12V 11:534288-534288 0
567 COSM498 HRAS skin,face,carcinoma,NS c.182A>T p.Q61L 11:533874-533874 0
568 COSM490 HRAS skin,NS,carcinoma,basal cell carcinoma c.38G>A p.G13D 11:534285-534285 0
569 COSM6903493 HRAS skin,face,carcinoma,NS c.409T>G p.Y137D 11:533494-533494 0
570 COSM6903487 HRAS skin,face,carcinoma,NS c.205G>C p.D69H 11:533851-533851 0
571 COSM496 HRAS salivary gland,parotid,carcinoma,NS c.181C>A p.Q61K 11:533875-533875 0
572 COSM486 HRAS skin,NS,carcinoma,basal cell carcinoma c.37G>C p.G13R 11:534286-534286 0
573 COSM6926849 HNF1A skin,NS,carcinoma,basal cell carcinoma c.1207C>T p.L403F 12:120996640-120996640 0
574 COSM5327973 HIST1H3I salivary gland,parotid,carcinoma,NS c.395G>C p.R132P 6:27871921-27871921 0
575 COSM6926797 HIST1H3B skin,NS,carcinoma,basal cell carcinoma c.205C>T p.Q69* 6:26031856-26031856 0
576 COSM6982991 HIST1H3A salivary gland,parotid,carcinoma,NS c.220G>C p.E74Q 6:26020709-26020709 0
577 COSM6438927 HGF skin,neck,carcinoma,NS c.974C>T p.P325L 7:81729671-81729671 0
578 COSM6926808 HGF skin,NS,carcinoma,basal cell carcinoma c.1492G>A p.G498R 7:81710196-81710196 0
579 COSM6983003 H3F3B salivary gland,parotid,carcinoma,NS c.18G>T p.Q6H 17:75779157-75779157 0
580 COSM1659039 GSTA4 salivary gland,parotid,carcinoma,NS c.98A>G p.E33G 6:52987398-52987398 0
581 COSM6906902 GRIN2A salivary gland,parotid,carcinoma,NS c.2626A>T p.I876F 16:9764918-9764918 0
582 COSM5385593 GRIN2A skin,NS,carcinoma,basal cell carcinoma c.4117G>A p.D1373N 16:9763427-9763427 0
583 COSM6936921 GREM1 skin,NS,carcinoma,basal cell carcinoma c.22G>A p.V8M 15:32730712-32730712 0
584 COSM1658923 GBF1 salivary gland,parotid,carcinoma,NS c.2563C>T p.R855C 10:102367484-102367484 0
585 COSM1658993 GATB salivary gland,parotid,carcinoma,NS c.1060C>A p.L354M 4:151701466-151701466 0
586 COSM6669552 GATA3 skin,NS,carcinoma,basal cell carcinoma c.668C>T p.P223L 10:8058731-8058731 0
587 COSM1658980 FRS3 salivary gland,parotid,carcinoma,NS c.172C>G p.P58A 6:41775500-41775500 0
588 COSM3597304 FOXP1 skin,NS,carcinoma,basal cell carcinoma c.1876C>T p.P626S 3:70965903-70965903 0
589 COSM6936909 FOXP1 skin,NS,carcinoma,basal cell carcinoma c.1527G>A p.W509* 3:70976944-70976944 0
590 COSM6954586 FOXP1 salivary gland,parotid,carcinoma,NS c.633G>T p.Q211H 3:71046973-71046973 0
591 COSM6926768 FOXP1 skin,NS,carcinoma,basal cell carcinoma c.1138C>T p.P380S 3:70988002-70988002 0
592 COSM6951248 FOXP1 skin,NS,carcinoma,basal cell carcinoma c.1196C>T p.S399F 3:70977980-70977980 0
593 COSM6953806 FOXO1 skin,NS,carcinoma,basal cell carcinoma c.832C>T p.Q278* 13:40560659-40560659 0
594 COSM1659127 FOXJ3 salivary gland,parotid,carcinoma,NS c.1389A>C p.L463L 1:42189367-42189367 0
595 COSM6965462 FOXA1 salivary gland,parotid,carcinoma,NS c.1310T>A p.L437Q 14:37591474-37591474 0
596 COSM1659099 FMNL1 salivary gland,parotid,carcinoma,NS c.2046G>A p.K682K 17:45243153-45243153 0
597 COSM6936920 FLT3 skin,NS,carcinoma,basal cell carcinoma c.2431G>A p.D811N 13:28018577-28018577 0
598 COSM5542939 FLT1 skin,NS,carcinoma,basal cell carcinoma c.80C>T p.S27L 13:28467602-28467602 0
599 COSM6951264 FLT1 skin,NS,carcinoma,basal cell carcinoma c.3364C>T p.P1122S 13:28317520-28317520 0
600 COSM1658930 FLNC salivary gland,parotid,carcinoma,NS c.5042C>T p.T1681M 7:128849421-128849421 0
601 COSM6962960 FGFR3 skin,neck,carcinoma,NS c.2421A>G p.*807W 4:1807262-1807262 0
602 COSM6962980 FGFR2 skin,neck,carcinoma,NS c.2234C>T p.S745F 10:121483765-121483765 0
603 COSM6926793 FAT1 skin,NS,carcinoma,basal cell carcinoma c.4064C>T p.P1355L 4:186636144-186636144 0
604 COSM1054163 FAT1 skin,NS,carcinoma,basal cell carcinoma c.7789C>T p.R2597* 4:186618797-186618797 0
605 COSM6926792 FAT1 skin,NS,carcinoma,basal cell carcinoma c.4064C>T p.P1355L 4:186636144-186636144 0
606 COSM4005729 FAT1 skin,NS,carcinoma,basal cell carcinoma c.46C>T p.Q16* 4:186709782-186709782 0
607 COSM6926790 FAT1 skin,NS,carcinoma,basal cell carcinoma c.11869C>T p.R3957C 4:186600132-186600132 0
608 COSM6912906 FAT1 skin,NS,carcinoma,basal cell carcinoma c.4323+2T>G p.? 4:186633682-186633682 0
609 COSM4981738 FAT1 skin,NS,carcinoma,basal cell carcinoma c.2527C>T p.Q843* 4:186707301-186707301 0
610 COSM6926788 FAT1 skin,NS,carcinoma,basal cell carcinoma c.12815C>T p.S4272F 4:186596725-186596725 0
611 COSM4981737 FAT1 skin,NS,carcinoma,basal cell carcinoma c.2527C>T p.Q843* 4:186707301-186707301 0
612 COSM6912905 FAT1 skin,NS,carcinoma,basal cell carcinoma c.4323+2T>G p.? 4:186633682-186633682 0
613 COSM6926789 FAT1 skin,NS,carcinoma,basal cell carcinoma c.12815C>T p.S4272F 4:186596725-186596725 0
614 COSM6926791 FAT1 skin,NS,carcinoma,basal cell carcinoma c.11869C>T p.R3957C 4:186600132-186600132 0
615 COSM4005728 FAT1 skin,NS,carcinoma,basal cell carcinoma c.46C>T p.Q16* 4:186709782-186709782 0
616 COSM1054161 FAT1 skin,NS,carcinoma,basal cell carcinoma c.7789C>T p.R2597* 4:186618797-186618797 0
617 COSM6953813 FANCA skin,NS,carcinoma,basal cell carcinoma c.4114G>A p.D1372N 16:89739186-89739186 0
618 COSM37030 EZH2 salivary gland,parotid,carcinoma,NS c.1936T>C p.Y646H 7:148811636-148811636 0
619 COSM6951266 ERCC4 skin,NS,carcinoma,basal cell carcinoma c.949G>A p.E317K 16:13930866-13930866 0
620 COSM6912897 ERBB4 skin,NS,carcinoma,basal cell carcinoma c.2202+1G>A p.? 2:211623921-211623921 0
621 COSM6926765 ERBB4 skin,NS,carcinoma,basal cell carcinoma c.1223C>T p.P408L 2:211704170-211704170 0
622 COSM4090941 ERBB4 salivary gland,parotid,carcinoma,NS c.718G>A p.G240R 2:211725099-211725099 0
623 COSM6503124 ERBB4 salivary gland,parotid,carcinoma,NS c.935A>G p.K312R 2:211713597-211713597 0
624 COSM436500 ERBB2 salivary gland,parotid,carcinoma,NS c.2329G>C p.V777L 17:39724747-39724747 0
625 COSM88803 ERBB2 salivary gland,parotid,carcinoma,NS c.2584A>G p.T862A 17:39725139-39725139 0
626 COSM6926778 EPHB1 skin,NS,carcinoma,basal cell carcinoma c.2446G>A p.E816K 3:135241247-135241247 0
627 COSM6926799 EPHA7 skin,NS,carcinoma,basal cell carcinoma c.1927G>A p.E643K 6:93258282-93258282 0
628 COSM1723966 EPHA7 skin,NS,carcinoma,basal cell carcinoma c.1393G>A p.E465K 6:93272354-93272354 0
629 COSM6962962 EPHA7 skin,neck,carcinoma,NS c.2468G>A p.G823E 6:93254711-93254711 0
630 COSM4992793 EPHA7 skin,NS,carcinoma,basal cell carcinoma c.2059G>A p.G687R 6:93258150-93258150 0
631 COSM6926801 EPHA7 skin,NS,carcinoma,basal cell carcinoma c.1507A>G p.N503D 6:93269603-93269603 0
632 COSM1430547 EPHA5 skin,NS,carcinoma,basal cell carcinoma c.1658G>A p.R553Q 4:65414313-65414313 0
633 COSM6912901 EPHA5 skin,NS,carcinoma,basal cell carcinoma c.733G>A p.D245N 4:65601818-65601818 0
634 COSM6936911 EPHA5 skin,NS,carcinoma,basal cell carcinoma c.1021G>A p.D341N 4:65495433-65495433 0
635 COSM6953782 EPHA5 skin,NS,carcinoma,basal cell carcinoma c.881G>A p.G294E 4:65601670-65601670 0
636 COSM6866987 EPHA5 skin,NS,carcinoma,basal cell carcinoma c.2513G>A p.G838E 4:65348199-65348199 0
637 COSM6953783 EPHA5 skin,NS,carcinoma,basal cell carcinoma c.719T>G p.L240W 4:65601832-65601832 0
638 COSM6953781 EPHA5 skin,NS,carcinoma,basal cell carcinoma c.1823C>T p.S608F 4:65377031-65377031 0
639 COSM6926783 EPHA5 skin,NS,carcinoma,basal cell carcinoma c.2197C>T p.H733Y 4:65365056-65365056 0
640 COSM6926784 EPHA5 skin,NS,carcinoma,basal cell carcinoma c.2146A>G p.K716E 4:65365107-65365107 0
641 COSM5918388 EPHA5 skin,neck,carcinoma,NS c.2608G>A p.E870K 4:65348104-65348104 0
642 COSM6936910 EPHA5 skin,NS,carcinoma,basal cell carcinoma c.1318G>A p.E440K 4:65490461-65490461 0
643 COSM6926771 EPHA3 skin,NS,carcinoma,basal cell carcinoma c.1426G>A p.E476K 3:89395956-89395956 0
644 COSM6926773 EPHA3 skin,NS,carcinoma,basal cell carcinoma c.2182C>T p.R728* 3:89431195-89431195 0
645 COSM6962957 EPHA3 skin,neck,carcinoma,NS c.632T>A p.M211K 3:89210338-89210338 0
646 COSM6926769 EPHA3 skin,NS,carcinoma,basal cell carcinoma c.1061G>T p.R354L 3:89341845-89341845 0
647 COSM6926774 EPHA3 skin,NS,carcinoma,basal cell carcinoma c.2684C>T p.A895V 3:89450364-89450364 0
648 COSM4527016 EPHA3 skin,NS,carcinoma,basal cell carcinoma c.1435G>A p.E479K 3:89399321-89399321 0
649 COSM6946976 EPHA3 skin,neck,carcinoma,NS c.533G>A p.G178E 3:89210239-89210239 0
650 COSM6975885 EP300 salivary gland,parotid,carcinoma,NS c.5206C>T p.Q1736* 22:41176917-41176917 0
651 COSM29274 EGFR salivary gland,parotid,carcinoma,NS c.2254T>C p.S752P 7:55174791-55174791 0
652 COSM41905 EGFR salivary gland,parotid,carcinoma,NS c.2092G>A p.A698T 7:55173951-55173951 0
653 COSM41904 EGFR salivary gland,parotid,carcinoma,NS c.2153T>C p.L718P 7:55174012-55174012 0
654 COSM13177 EGFR salivary gland,parotid,carcinoma,NS c.2063T>C p.L688P 7:55173922-55173922 0
655 COSM1658939 DUS2 salivary gland,parotid,carcinoma,NS c.812C>T p.A271V 16:68074035-68074035 0
656 COSM6848800 DOT1L skin,NS,carcinoma,basal cell carcinoma c.3640C>T p.P1214S 19:2225431-2225431 0
657 COSM6949581 DOT1L skin,NS,carcinoma,basal cell carcinoma c.4292C>T p.A1431V 19:2226813-2226813 0
658 COSM6983005 DOT1L salivary gland,parotid,carcinoma,NS c.3604-3G>C p.? 19:2225392-2225392 0
659 COSM6951274 DNMT1 skin,NS,carcinoma,basal cell carcinoma c.2128C>T p.P710S 19:10151487-10151487 0
660 COSM6912932 DICER1 skin,NS,carcinoma,basal cell carcinoma c.4798G>A p.E1600K 14:95096122-95096122 0
661 COSM6953808 DICER1 skin,NS,carcinoma,basal cell carcinoma c.421G>A p.E141K 14:95131526-95131526 0
662 COSM6926761 DDR2 skin,NS,carcinoma,basal cell carcinoma c.199G>A p.E67K 1:162754637-162754637 0
663 COSM6951243 DDR2 skin,NS,carcinoma,basal cell carcinoma c.1636G>A p.D546N 1:162772155-162772155 0
664 COSM1658943 CYP7B1 salivary gland,parotid,carcinoma,NS c.137C>T p.P46L 8:64624525-64624525 0
665 COSM214343 CYLD skin,face,adnexal tumour,trichoepithelioma c.1327C>T p.Q443* 16:50779853-50779853 0
666 COSM3046519 CUL3 skin,NS,carcinoma,basal cell carcinoma c.1153C>T p.P385S 2:224506009-224506009 0
667 COSM5662 CTNNB1 skin,NS,carcinoma,basal cell carcinoma c.110C>T p.S37F 3:41224622-41224622 0
668 COSM13168 CTNNB1 salivary gland,parotid,carcinoma,NS c.104T>C p.I35T 3:41224616-41224616 0
669 COSM6926767 CTNNB1 skin,NS,carcinoma,basal cell carcinoma c.1718G>T p.C573F 3:41235758-41235758 0
670 COSM5688 CTNNB1 salivary gland,parotid,adenoma,basal cell c.121A>C p.T41P 3:41224633-41224633 0
671 COSM4007517 CSF3R skin,NS,carcinoma,basal cell carcinoma c.59C>T p.P20L 1:36479438-36479438 0
672 COSM6926873 CIC skin,NS,carcinoma,basal cell carcinoma c.2123G>A p.R708K 19:42290891-42290891 0
673 COSM1658854 CHN2 salivary gland,parotid,carcinoma,NS c.523A>C p.N175H 7:29400775-29400775 0
674 COSM1659020 CFAP70 salivary gland,parotid,carcinoma,NS c.2792A>T p.Y931F 10:73275537-73275537 0
675 COSM1659019 CFAP70 salivary gland,parotid,carcinoma,NS c.2789A>T p.E930V 10:73275540-73275540 0
676 COSM12476 CDKN2A skin,NS,carcinoma,basal cell carcinoma c.341C>T p.P114L 9:21971018-21971018 0
677 COSM13223 CDKN2A skin,face,carcinoma,NS c.151-1G>A p.? 9:21971209-21971209 0
678 COSM12475 CDKN2A salivary gland,parotid,carcinoma,NS c.238C>T p.R80* 9:21971121-21971121 0
679 COSM13496 CDKN2A skin,face,carcinoma,NS c.151G>A p.V51I 9:21971208-21971208 0
680 COSM12506 CDKN2A skin,face,carcinoma,NS c.148C>T p.Q50* 9:21974680-21974680 0
681 COSM6936925 CDK12 skin,NS,carcinoma,basal cell carcinoma c.64C>T p.Q22* 17:39462135-39462135 0
682 COSM6953814 CDK12 skin,NS,carcinoma,basal cell carcinoma c.1702C>T p.P568S 17:39471534-39471534 0
683 COSM1937734 CD276 skin,NS,carcinoma,basal cell carcinoma c.904G>A p.D302N 15:73703829-73703829 0
684 COSM3078946 CCND3 skin,NS,carcinoma,basal cell carcinoma c.848C>T p.T283I 6:41935971-41935971 0
685 COSM1658926 CCDC65 salivary gland,parotid,carcinoma,NS c.400C>T p.R134W 12:48914503-48914503 0
686 COSM1658884 CASZ1 salivary gland,parotid,carcinoma,NS c.4655G>T p.S1552I 1:10639567-10639567 0
687 COSM6962956 CASP8 skin,neck,carcinoma,NS c.1382C>T p.T461I 2:201286485-201286485 0
688 COSM3713589 CASP8 skin,neck,carcinoma,NS c.1093C>T p.L365F 2:201285055-201285055 0
689 COSM6912913 CARD11 skin,NS,carcinoma,basal cell carcinoma c.2698C>T p.L900F 7:2917295-2917295 0
690 COSM6982994 CARD11 salivary gland,parotid,carcinoma,NS c.1453G>A p.E485K 7:2934518-2934518 0
691 COSM4549748 CARD11 skin,NS,carcinoma,basal cell carcinoma c.481G>A p.D161N 7:2944415-2944415 0
692 COSM6906906 BRIP1 salivary gland,parotid,carcinoma,NS c.2474T>C p.L825S 17:61715969-61715969 0
693 COSM6909698 BRCA2 skin,NS,carcinoma,basal cell carcinoma c.4382C>T p.S1461F 13:32338737-32338737 0
694 COSM34219 BRCA2 salivary gland,parotid,carcinoma,NS c.559G>A p.E187K 13:32326541-32326541 0
695 COSM478 BRAF salivary gland,parotid,carcinoma,NS c.1801A>G p.K601E 7:140753334-140753334 0
696 COSM476 BRAF salivary gland,parotid,carcinoma,NS c.1799T>A p.V600E 7:140753336-140753336 0
697 COSM133631 BRAF skin,face,carcinoma,basal cell carcinoma c.1828T>A p.F610I 7:140753307-140753307 0
698 COSM133632 BRAF skin,face,carcinoma,basal cell carcinoma c.1789C>T p.L597L 7:140753346-140753346 0
699 COSM1659041 BORA salivary gland,parotid,carcinoma,NS c.1052T>G p.I351R 13:72746681-72746681 0
700 COSM1659125 BIRC6 salivary gland,parotid,carcinoma,NS c.9339T>C p.T3113T 2:32503076-32503076 0
701 COSM6926839 BIRC3 skin,NS,carcinoma,basal cell carcinoma c.1604C>T p.P535L 11:102336784-102336784 0
702 COSM6981268 BCOR salivary gland,parotid,carcinoma,NS c.1552G>T p.E518* 23:40073794-40073794 0
703 COSM6953825 BCOR skin,NS,carcinoma,basal cell carcinoma c.4519G>A p.D1507N 23:40055488-40055488 0
704 COSM6912900 BARD1 skin,NS,carcinoma,basal cell carcinoma c.1879G>A p.G627R 2:214745091-214745091 0
705 COSM6912954 AXL skin,NS,carcinoma,basal cell carcinoma c.1652C>T p.S551F 19:41248788-41248788 0
706 COSM6926878 AURKA skin,NS,carcinoma,basal cell carcinoma c.260C>T p.P87L 20:56386316-56386316 0
707 COSM6909699 ATRX skin,NS,carcinoma,basal cell carcinoma c.5389G>T p.V1797F 23:77618865-77618865 0
708 COSM1659065 ATP10B salivary gland,parotid,carcinoma,NS c.2787C>A p.C929* 5:160612792-160612792 0
709 COSM21323 ATM skin,neck,carcinoma,NS c.1009C>T p.R337C 11:108247071-108247071 0
710 COSM173211 ATM skin,NS,carcinoma,basal cell carcinoma c.748C>T p.R250* 11:108244873-108244873 0
711 COSM21301 ATM salivary gland,parotid,carcinoma,NS c.1010G>A p.R337H 11:108247072-108247072 0
712 COSM6982996 ATM salivary gland,parotid,carcinoma,NS c.6046G>C p.D2016H 11:108315862-108315862 0
713 COSM1235406 ATM skin,NS,carcinoma,basal cell carcinoma c.7466C>T p.S2489F 11:108330372-108330372 0
714 COSM21826 ATM salivary gland,parotid,adenoma,basal cell c.2572T>C p.F858L 11:108267276-108267276 0
715 COSM6926763 ASXL2 skin,NS,carcinoma,basal cell carcinoma c.1121C>T p.S374L 2:25744436-25744436 0
716 COSM1658910 ARID5B salivary gland,parotid,carcinoma,NS c.1327C>T p.R443C 10:62085829-62085829 0
717 COSM6926842 ARID2 skin,NS,carcinoma,basal cell carcinoma c.705+1G>A p.? 12:45821488-45821488 0
718 COSM6926807 ARID1B skin,NS,carcinoma,basal cell carcinoma c.3433C>T p.P1145S 6:157184372-157184372 0
719 COSM6982993 ARID1B salivary gland,parotid,carcinoma,NS c.5998G>A p.E2000K 6:157207193-157207193 0
720 COSM1659057 ARID1A salivary gland,parotid,carcinoma,NS c.4069C>T p.Q1357* 1:26773866-26773866 0
721 COSM6909693 ARID1A skin,NS,carcinoma,basal cell carcinoma c.5834C>T p.P1945L 1:26779732-26779732 0
722 COSM6912887 ARID1A skin,NS,carcinoma,basal cell carcinoma c.1954G>A p.G652R 1:26760889-26760889 0
723 COSM6924342 ARID1A skin,NS,carcinoma,basal cell carcinoma c.3406+2T>A p.? 1:26771328-26771328 0
724 COSM6951281 ARAF skin,NS,carcinoma,basal cell carcinoma c.3G>T p.M1I 23:47562970-47562970 0
725 COSM3562855 AR skin,NS,carcinoma,basal cell carcinoma c.712G>A p.E238K 23:67545858-67545858 0
726 COSM6921907 AR skin,NS,carcinoma,basal cell carcinoma c.1117G>A p.G373R 23:67546263-67546263 0
727 COSM6950941 APC skin,neck,carcinoma,NS c.536C>T p.S179F 5:112780794-112780794 0
728 COSM5030970 APC salivary gland,parotid,carcinoma,NS c.2602G>A p.E868K 5:112838196-112838196 0
729 COSM1059567 APC skin,NS,carcinoma,basal cell carcinoma c.2185C>T p.L729F 5:112837779-112837779 0
730 COSM6912911 APC skin,NS,carcinoma,basal cell carcinoma c.518C>T p.P173L 5:112775724-112775724 0
731 COSM1659002 ANKS4B salivary gland,parotid,carcinoma,NS c.313G>T p.A105S 16:21249879-21249879 0
732 COSM6953812 ANKRD11 skin,NS,carcinoma,basal cell carcinoma c.4070C>T p.S1357F 16:89282472-89282472 0
733 COSM6951283 AMER1 skin,NS,carcinoma,basal cell carcinoma c.979G>A p.G327S 23:64192308-64192308 0
734 COSM5030957 ALK salivary gland,parotid,carcinoma,NS c.3597G>A p.M1199I 2:29220754-29220754 0
735 COSM28055 ALK salivary gland,parotid,carcinoma,NS c.3522C>A p.F1174L 2:29220829-29220829 0
736 COSM6951246 AKT3 skin,NS,carcinoma,basal cell carcinoma c.617C>T p.P206L 1:243615106-243615106 0
737 COSM6962953 AKT3 skin,neck,carcinoma,NS c.1164-1G>A p.? 1:243545598-243545598 0
738 COSM6912952 AKT2 skin,NS,carcinoma,basal cell carcinoma c.1255C>T p.Q419* 19:40235271-40235271 0
739 COSM5030956 AKT1 salivary gland,parotid,carcinoma,NS c.98G>A p.G33D 14:104780165-104780165 0
740 COSM33765 AKT1 salivary gland,parotid,carcinoma,NS c.49G>A p.E17K 14:104780214-104780214 0
741 COSM1658859 ADAMTS10 salivary gland,parotid,carcinoma,NS c.1783T>C p.S595P 19:8591814-8591814 0
742 COSM1659042 salivary gland,parotid,carcinoma,NS c.1159T>G p.Y387D 10:70873450-70873450 0
743 COSM5937391 skin,NS,carcinoma,basal cell carcinoma c.1726C>T p.Q576* 9:95476036-95476036 0
744 COSM6172264 skin,NS,carcinoma,basal cell carcinoma c.379C>T p.P127S 6:106095702-106095702 0
745 COSM6953810 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 0
746 COSM6962993 skin,neck,carcinoma,NS c.1619G>A p.G540E 20:42352227-42352227 0
747 COSM3675533 skin,face,carcinoma,NS c.375+1G>A p.? 17:7675993-7675993 0
748 COSM6912955 skin,NS,carcinoma,basal cell carcinoma c.5658G>A p.M1886I 23:71137293-71137293 0
749 COSM6963775 salivary gland,parotid,carcinoma,NS c.254T>A p.L85* 23:53217863-53217863 0
750 COSM99602 skin,neck,carcinoma,NS c.743G>A p.R248Q 17:7674220-7674220 0
751 COSM6903620 skin,face,carcinoma,NS c.3154A>C p.T1052P 9:136508887-136508887 0
752 COSM6921908 skin,NS,carcinoma,basal cell carcinoma c.547G>A p.G183R 23:67546263-67546263 0
753 COSM6912895 skin,NS,carcinoma,basal cell carcinoma c.764C>T p.S255F 2:98539621-98539621 0
754 COSM6912951 skin,NS,carcinoma,basal cell carcinoma c.3083C>T p.P1028L 19:15242986-15242986 0
755 COSM6926816 skin,NS,carcinoma,basal cell carcinoma c.1172C>T p.A391V 8:127740765-127740765 0
756 COSM6926837 skin,NS,carcinoma,basal cell carcinoma c.1031C>T p.P344L 11:64365425-64365425 0
757 COSM6951254 skin,NS,carcinoma,basal cell carcinoma c.785T>A p.L262* 9:95480550-95480550 0
758 COSM139044 skin,face,carcinoma,NS c.832C>T p.P278S 17:7673788-7673788 0
759 COSM6903568 skin,face,carcinoma,NS c.1486A>G p.S496G 9:136517341-136517341 0
760 COSM6951257 skin,NS,carcinoma,basal cell carcinoma c.782T>A p.L261* 9:95480550-95480550 0
761 COSM99667 skin,face,carcinoma,NS c.307C>T p.R103* 17:7674945-7674945 0
762 COSM139811 skin,face,carcinoma,NS c.2468-1G>A p.? 9:136511272-136511272 0
763 COSM2744631 skin,NS,carcinoma,basal cell carcinoma c.713G>T p.C238F 17:7674250-7674250 0
764 COSM3701293 skin,face,carcinoma,NS c.706T>C p.Y236H 17:7674257-7674257 0
765 COSM5542940 skin,NS,carcinoma,basal cell carcinoma c.80C>T p.S27L 13:28467602-28467602 0
766 COSM6971929 salivary gland,parotid,carcinoma,NS c.79-2A>G p.? 16:67029725-67029725 0
767 COSM1640830 skin,neck,carcinoma,NS c.743G>A p.R248Q 17:7674220-7674220 0
768 COSM1658869 salivary gland,parotid,carcinoma,NS c.11321T>A p.L3774Q 8:47782450-47782450 0
769 COSM3388183 skin,NS,carcinoma,basal cell carcinoma c.742C>T p.R248W 17:7674221-7674221 0
770 COSM1649400 salivary gland,parotid,carcinoma,NS c.713G>A p.C238Y 17:7674250-7674250 0
771 COSM6903516 skin,face,carcinoma,NS c.199C>T p.P67S 9:136523921-136523921 0
772 COSM6926806 skin,NS,carcinoma,basal cell carcinoma c.3487C>T p.P1163S 6:157184372-157184372 0
773 COSM1659011 salivary gland,parotid,carcinoma,NS c.6794C>A p.S2265Y 13:23337082-23337082 0
774 COSM5752722 skin,face,carcinoma,NS c.714T>A p.C238* 17:7674249-7674249 0
775 COSM6953802 skin,NS,carcinoma,basal cell carcinoma c.1339C>T p.P447S 9:136517854-136517854 0
776 COSM1158322 salivary gland,parotid,carcinoma,NS c.1010G>A p.R337H 11:108247072-108247072 0
777 COSM3562856 skin,NS,carcinoma,basal cell carcinoma c.142G>A p.E48K 23:67545858-67545858 0
778 COSM6903694 skin,face,carcinoma,NS c.4355C>T p.P1452L 9:136505541-136505541 0
779 COSM6906892 salivary gland,parotid,carcinoma,NS c.512G>A p.W171* 2:98537907-98537907 0
780 COSM6936927 skin,NS,carcinoma,basal cell carcinoma c.286-1G>A p.? 17:42291971-42291971 0
781 COSM6962972 skin,neck,carcinoma,NS c.1727G>A p.S576N 9:8504347-8504347 0
782 COSM3403263 skin,NS,carcinoma,basal cell carcinoma c.713G>T p.C238F 17:7674250-7674250 0
783 COSM6912929 skin,NS,carcinoma,basal cell carcinoma c.1912G>A p.E638K 12:328891-328891 0
784 COSM1739746 skin,NS,carcinoma,basal cell carcinoma c.7466C>T p.S2489F 11:108330372-108330372 0
785 COSM1646810 skin,face,carcinoma,NS c.832C>T p.P278S 17:7673788-7673788 0
786 COSM1679494 skin,NS,carcinoma,basal cell carcinoma c.772G>A p.E258K 17:7674191-7674191 0
787 COSM6909697 skin,NS,carcinoma,basal cell carcinoma c.4382C>T p.S1461F 13:32338737-32338737 0
788 COSM6912957 skin,NS,carcinoma,basal cell carcinoma c.5658G>A p.M1886I 23:71137293-71137293 0
789 COSM6926856 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 0
790 COSM6962978 skin,neck,carcinoma,NS c.2237C>T p.S746F 10:121483765-121483765 0
791 COSM99624 skin,NS,carcinoma,basal cell carcinoma c.713G>T p.C238F 17:7674250-7674250 0
792 COSM5989694 skin,NS,carcinoma,basal cell carcinoma c.4045C>T p.R1349W 9:95447208-95447208 0
793 COSM6903618 skin,face,carcinoma,NS c.3055C>T p.Q1019* 9:136508986-136508986 0
794 COSM6962995 skin,neck,carcinoma,NS c.1607C>T p.S536L 20:42352239-42352239 0
795 COSM6903796 skin,face,carcinoma,NS c.7503G>C p.Q2501H 9:136496236-136496236 0
796 COSM6926787 skin,NS,carcinoma,basal cell carcinoma c.1462C>G p.P488A 4:142160459-142160459 0
797 COSM99665 skin,face,carcinoma,NS c.586C>T p.R196* 17:7674945-7674945 0
798 COSM6926830 skin,NS,carcinoma,basal cell carcinoma c.584+1G>A p.? 9:95485684-95485684 0
799 COSM1640831 skin,face,carcinoma,NS c.742C>T p.R248W 17:7674221-7674221 0
800 COSM3395759 skin,face,carcinoma,NS c.148C>T p.Q50* 9:21974680-21974680 0
801 COSM6949580 skin,NS,carcinoma,basal cell carcinoma c.4292C>T p.A1431V 19:2226813-2226813 0
802 COSM6912928 skin,NS,carcinoma,basal cell carcinoma c.1344+1G>A p.? 9:95478054-95478054 0
803 COSM6926825 skin,NS,carcinoma,basal cell carcinoma c.1774G>A p.G592S 9:8504309-8504309 0
804 COSM1350749 skin,neck,carcinoma,NS c.1009C>T p.R337C 11:108247071-108247071 0
805 COSM3701296 skin,face,carcinoma,NS c.427T>C p.Y143H 17:7674257-7674257 0
806 COSM6912953 skin,NS,carcinoma,basal cell carcinoma c.1679C>T p.S560F 19:41248788-41248788 0
807 COSM753742 skin,NS,carcinoma,basal cell carcinoma c.507C>T p.A169A 9:21971018-21971018 0
808 COSM6903738 skin,face,carcinoma,NS c.5065T>C p.S1689P 9:136503284-136503284 0
809 COSM6962951 skin,neck,carcinoma,NS c.1164-1G>A p.? 1:243545598-243545598 0
810 COSM1087612 skin,NS,carcinoma,basal cell carcinoma c.3899G>A p.R1300K 7:152205168-152205168 0
811 COSM6903704 skin,face,carcinoma,NS c.4417G>A p.G1473S 9:136505479-136505479 0
812 COSM6906904 salivary gland,parotid,carcinoma,NS c.3527C>T p.S1176F 17:16079986-16079986 0
813 COSM1700913 skin,neck,carcinoma,NS c.1261C>T p.P421S 9:8518130-8518130 0
814 COSM2744975 skin,face,carcinoma,NS c.375+1G>A p.? 17:7675993-7675993 0
815 COSM6953819 skin,NS,carcinoma,basal cell carcinoma c.4036G>A p.G1346R 19:7117169-7117169 0
816 COSM120006 skin,face,carcinoma,NS c.463C>T p.R155W 17:7674221-7674221 0
817 COSM1700915 skin,neck,carcinoma,NS c.1252C>T p.P418S 9:8518130-8518130 0
818 COSM2813735 skin,NS,carcinoma,basal cell carcinoma c.3574C>T p.R1192C 19:11033317-11033317 0
819 COSM6951267 skin,NS,carcinoma,basal cell carcinoma c.67G>A p.E23K 16:81786056-81786056 0
820 COSM6962982 skin,neck,carcinoma,NS c.4377T>G p.C1459W 11:118488658-118488658 0
821 COSM6983001 salivary gland,parotid,carcinoma,NS c.503C>A p.S168* 17:31169914-31169914 0
822 COSM4906064 skin,NS,carcinoma,basal cell carcinoma c.407C>T p.P136L 4:142314728-142314728 0
823 COSM6903598 skin,face,carcinoma,NS c.2578G>A p.G860S 9:136511161-136511161 0
824 COSM6903919 skin,face,carcinoma,NS c.260C>A p.P87Q 17:7676109-7676109 0
825 COSM6912916 skin,NS,carcinoma,basal cell carcinoma c.14309C>T p.P4770L 7:152145189-152145189 0
826 COSM129830 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 17:7673781-7673781 0
827 COSM6903632 skin,face,carcinoma,NS c.3394C>T p.R1132C 9:136508071-136508071 0
828 COSM1172462 skin,NS,carcinoma,basal cell carcinoma c.772G>A p.E258K 17:7674191-7674191 0
829 COSM3522695 skin,face,carcinoma,NS c.722C>T p.S241F 17:7674241-7674241 0
830 COSM5610129 skin,NS,carcinoma,basal cell carcinoma c.2131C>T p.P711S 9:8499838-8499838 0
831 COSM127094 skin,face,carcinoma,NS c.317-1G>A p.? 9:21971209-21971209 0
832 COSM6903763 skin,face,carcinoma,NS c.5932C>T p.Q1978* 9:136500554-136500554 0
833 COSM6953787 skin,NS,carcinoma,basal cell carcinoma c.4885-1G>A p.? 6:117341312-117341312 0
834 COSM6962950 skin,neck,carcinoma,NS c.430C>T p.P144S 1:77966737-77966737 0
835 COSM99626 skin,NS,carcinoma,basal cell carcinoma c.713G>T p.C238F 17:7674250-7674250 0
836 COSM1700912 skin,neck,carcinoma,NS c.1261C>T p.P421S 9:8518130-8518130 0
837 COSM6926872 skin,NS,carcinoma,basal cell carcinoma c.1448C>T p.S483F 19:17838384-17838384 0
838 COSM6962991 skin,neck,carcinoma,NS c.1369C>T p.P457S 17:40356221-40356221 0
839 COSM99020 skin,neck,carcinoma,NS c.743G>A p.R248Q 17:7674220-7674220 0
840 COSM1658896 salivary gland,parotid,carcinoma,NS c.3745C>G p.L1249V 23:71129733-71129733 0
841 COSM5989695 skin,NS,carcinoma,basal cell carcinoma c.4045C>T p.R1349W 9:95447208-95447208 0
842 COSM6926848 skin,NS,carcinoma,basal cell carcinoma c.1276C>T p.Q426* 12:68839631-68839631 0
843 COSM99021