CPSR superpanel (v3.0)

We have aggregated data from multiple sources to compile an exploratory track of n = 433 genes with associations to cancer predisposition/cancer syndromes:

  • TCGA_PANCAN_18 - TCGCA Pancancer germline study - Huang et al, Cell, 2018
  • CGC_94 - Curated list - Cancer Gene Census (COSMIC) - version 94
  • NCGC - Expert-curated list from Norwegian Cancer Genomics Consortium
  • PANEL_APP - knowledge base of virtual gene panels related to human disorders - all unique genes from 42 panels linked to inherited cancers and cancer susceptibility
  • OTHER - Other potential cancer-relevant genes, as contributed by the CPSR user community

Data with respect to mechanisms of inheritance (MoI - autosomal recessive (AR) vs. autosomal dominant (AD) etc.) and whether mechanisms of disease are associated with loss-of-function (LoF) or gain-of-function (GoF) were primarily retrieved from Maxwell et al., Am J Hum Genet, 2016, and Genomics England PanelApp

We want to make it explicit that this lis by no means regarded as an international consensus, but should rather be subject to continuous update by the international community that carry expertise on genetic risk factors for cancer.

Do you miss other genes of relevance for cancer predisposition/inherited tumor syndromes? Please forward a list of gene identifiers, preferably also with mode of inheritance and literature support to sigven AT ifi.uio.no, so we can include them in Panel 0.

Download the complete set of CPSR superpanel genes, grch37/grch38 versions (xlsx)

n o gene_link e n t r e z g e n e e n s e m b l _ g e n e _ i d m o i m o d gene_name s ource ph enotype_syndrome_term
1 ABCB11 8 6 4 7 E N S G 0 0 0 0 0 0 7 3 7 3 4 A R L o F ATP binding cassette subfamily B member 11 T CGA_P ANCAN _2018 Crigler-Najjar syndrome, type II
2 ABL1 2 5 E N S G 0 0 0 0 0 0 9 7 0 0 7 N A N A ABL p roto-oncogene 1, non-receptor tyrosine kinase OTHER NA
3 ABL2 2 7 E N S G 0 0 0 0 0 1 4 3 3 2 2 N A N A ABL p roto-oncogene 2, non-receptor tyrosine kinase OTHER NA
4 ABRAXAS1 8 4 1 4 2 E N S G 0 0 0 0 0 1 6 3 3 2 2 N A N A abraxas 1, BRCA1 A complex subunit NCGC NA
5 ACD 6 5 0 5 7 E N S G 0 0 0 0 0 1 0 2 9 7 7 A D / A R N A ACD shelterin complex subunit and telomerase recruitment factor NCGC ,PANE L_APP NA
6 ACTRT1 1 3 9 7 4 1 E N S G 0 0 0 0 0 1 2 3 1 6 5 A D N A actin related protein T1 PANE L_APP NA
7 ADM 1 3 3 E N S G 0 0 0 0 0 1 4 8 9 2 6 N A N A a drenomedullin PANE L_APP NA
8 AIP 9 0 4 9 E N S G 0 0 0 0 0 1 1 0 7 1 1 A D L o F aryl hydrocarbon receptor interacting protein NCGC ,PANE L_APP NA
9 AKT1 2 0 7 E N S G 0 0 0 0 0 1 4 2 2 0 8 A D G o F AKT ser ine/threonine kinase 1 NCGC ,PANE L_APP NA
1 0 ALK 2 3 8 E N S G 0 0 0 0 0 1 7 1 0 9 4 A D G o F ALK receptor tyrosine kinase CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Neuroblastoma
1 1 AMER1 1 3 9 2 8 5 E N S G 0 0 0 0 0 1 8 4 6 7 5 N A N A APC membrane recruitment protein 1 OTHER NA
1 2 ANKRD26 2 2 8 5 2 E N S G 0 0 0 0 0 1 0 7 8 9 0 A D N A ankyrin repeat domain 26 PANE L_APP NA
1 3 APC 3 2 4 E N S G 0 0 0 0 0 1 3 4 9 8 2 A D / A R L o F APC regulator of WNT signaling pathway ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Familial multiple polyposis syndrome; Familial adenomatous polyposis 1
1 4 APOBEC3B 9 5 8 2 E N S G 0 0 0 0 0 1 7 9 7 5 0 A R N A a polipoprotein B mRNA editing enzyme catalytic subunit 3B C GC_94 NA
1 5 AR 3 6 7 E N S G 0 0 0 0 0 1 6 9 0 8 3 A D N A androgen receptor C GC_94 ,PANE L_APP NA
1 6 ARHGEF12 2 3 3 6 5 E N S G 0 0 0 0 0 1 9 6 9 1 4 N A N A Rho guanine nucleotide exchange factor 12 OTHER NA
1 7 ARID1A 8 2 8 9 E N S G 0 0 0 0 0 1 1 7 7 1 3 A D N A AT-rich interaction domain 1A OTHER NA
1 8 ARID2 1 9 6 5 2 8 E N S G 0 0 0 0 0 1 8 9 0 7 9 A D N A AT-rich interaction domain 2 OTHER NA
1 9 ARID5B 8 4 1 5 9 E N S G 0 0 0 0 0 1 5 0 3 4 7 N A N A AT-rich interaction domain 5B OTHER NA
2 0 ARMC5 7 9 7 9 8 E N S G 0 0 0 0 0 1 4 0 6 9 1 A D N A armadillo repeat containing 5 OTHER NA
2 1 ASXL1 1 7 1 0 2 3 E N S G 0 0 0 0 0 1 7 1 4 5 6 N A N A ASXL tr anscriptional regulator 1 OTHER NA
2 2 ATM 4 7 2 E N S G 0 0 0 0 0 1 4 9 3 1 1 A D / A R L o F ATM ser ine/threonine kinase CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Ataxia-telangiectasia syndrome
2 3 ATR 5 4 5 E N S G 0 0 0 0 0 1 7 5 0 5 4 A D L o F ATR ser ine/threonine kinase CGC _94,P ANEL_ APP,T CGA_P ANCAN _2018 Seckel syndrome; Cutaneous telangiectasia and cancer syndrome, familial
2 4 ATRX 5 4 6 E N S G 0 0 0 0 0 0 8 5 2 2 4 N A N A ATRX chromatin remodeler OTHER NA
2 5 AXIN1 8 3 1 2 E N S G 0 0 0 0 0 1 0 3 1 2 6 N A N A axin 1 NCGC NA
2 6 AXIN2 8 3 1 3 E N S G 0 0 0 0 0 1 6 8 6 4 6 A D / A R L o F axin 2 CGC _94,N CGC,T CGA_P ANCAN _2018 O ligodontia-colorectal cancer syndrome
2 7 BAP1 8 3 1 4 E N S G 0 0 0 0 0 1 6 3 9 3 0 A D / A R L o F BRCA1 associated protein 1 CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Tumor susceptibility linked to germline BAP1 mutations; BAP1 Cancer Syndrome
2 8 BARD1 5 8 0 E N S G 0 0 0 0 0 1 3 8 3 7 6 A R L o F BRCA1 associated RING domain 1 C GC_94 ,NCGC ,PANE L_APP NA
2 9 BCL10 8 9 1 5 E N S G 0 0 0 0 0 1 4 2 8 6 7 A R N A BCL10 immune signaling adaptor OTHER NA
3 0 BCR 6 1 3 E N S G 0 0 0 0 0 1 8 6 7 1 6 N A N A BCR activator of RhoGEF and GTPase OTHER NA
3 1 BLM 6 4 1 E N S G 0 0 0 0 0 1 9 7 2 9 9 A R L o F BLM RecQ like helicase CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Bloom syndrome
3 2 BMPR1A 6 5 7 E N S G 0 0 0 0 0 1 0 7 7 7 9 A D / A R L o F bone morphogenetic protein receptor type 1A ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Juvenile polyposis syndrome
3 3 BRAF 6 7 3 E N S G 0 0 0 0 0 1 5 7 7 6 4 A D N A B-Raf pr oto-oncogene, ser ine/threonine kinase P ANEL_ APP,T CGA_P ANCAN _2018 Noonan syndrome 7; LEOPARD syndrome 3
3 4 BRCA1 6 7 2 E N S G 0 0 0 0 0 0 1 2 0 4 8 A D / A R L o F BRCA1 DNA repair associated ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Hereditary breast and ovarian cancer syndrome
3 5 BRCA2 6 7 5 E N S G 0 0 0 0 0 1 3 9 6 1 8 A D / A R L o F BRCA2 DNA repair associated ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Hereditary breast and ovarian cancer syndrome; Fanconi anemia, complementation group D1
3 6 BRIP1 8 3 9 9 0 E N S G 0 0 0 0 0 1 3 6 4 9 2 A D / A R L o F BRCA1 interacting helicase 1 CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Fanconi anemia, complementation group J
3 7 BTK 6 9 5 E N S G 0 0 0 0 0 0 1 0 6 7 1 X L R N A Bruton tyrosine kinase OTHER NA
3 8 BUB1 6 9 9 E N S G 0 0 0 0 0 1 6 9 6 7 9 N A N A BUB1 mitotic checkpoint ser ine/threonine kinase NCGC NA
3 9 BUB1B 7 0 1 E N S G 0 0 0 0 0 1 5 6 9 7 0 A R L o F BUB1 mitotic checkpoint ser ine/threonine kinase B CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Mosaic variegated aneuploidy syndrome 1
4 0 BUB3 9 1 8 4 E N S G 0 0 0 0 0 1 5 4 4 7 3 N A N A BUB3 mitotic checkpoint protein OTHER NA
4 1 CAMTA1 2 3 2 6 1 E N S G 0 0 0 0 0 1 7 1 7 3 5 N A N A calmodulin binding transcription activator 1 OTHER NA
4 2 CASP8 8 4 1 E N S G 0 0 0 0 0 0 6 4 0 1 2 A D N A caspase 8 OTHER NA
4 3 CASR 8 4 6 E N S G 0 0 0 0 0 0 3 6 8 2 8 N A N A calcium sensing receptor NCGC ,PANE L_APP NA
4 4 CBFA2T3 8 6 3 E N S G 0 0 0 0 0 1 2 9 9 9 3 N A N A CBFA2/RUNX1 partner tr anscriptional co-repressor 3 OTHER NA
4 5 CBL 8 6 7 E N S G 0 0 0 0 0 1 1 0 3 9 5 A D L o F Cbl p roto-oncogene P ANEL_ APP,T CGA_P ANCAN _2018 Noonan syndrome
4 6 CDC73 7 9 5 7 7 E N S G 0 0 0 0 0 1 3 4 3 7 1 A D / A R L o F cell division cycle 73 CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Hyperparathyroidism 2
4 7 CDH1 9 9 9 E N S G 0 0 0 0 0 0 3 9 0 6 8 A D / A R L o F cadherin 1 CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Hereditary diffuse gastric cancer
4 8 CDH10 1 0 0 8 E N S G 0 0 0 0 0 0 4 0 7 3 1 N A N A cadherin 10 C GC_94 NA
4 9 CDH11 1 0 0 9 E N S G 0 0 0 0 0 1 4 0 9 3 7 N A N A cadherin 11 OTHER NA
5 0 CDK4 1 0 1 9 E N S G 0 0 0 0 0 1 3 5 4 4 6 A D G o F cyclin dependent kinase 4 CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Hereditary melanoma; Cutaneous malignant melanoma 3
5 1 CDKN1A 1 0 2 6 E N S G 0 0 0 0 0 1 2 4 7 6 2 N A N A cyclin dependent kinase inhibitor 1A OTHER NA
5 2 CDKN1B 1 0 2 7 E N S G 0 0 0 0 0 1 1 1 2 7 6 A D / A R L o F cyclin dependent kinase inhibitor 1B CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Multiple endocrine neoplasia, type 4
5 3 CDKN1C 1 0 2 8 E N S G 0 0 0 0 0 1 2 9 7 5 7 A D L o F cyclin dependent kinase inhibitor 1C N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Beckwith-Wiedemann syndrome
5 4 CDKN2A 1 0 2 9 E N S G 0 0 0 0 0 1 4 7 8 8 9 A D / A R L o F cyclin dependent kinase inhibitor 2A CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Hereditary melanoma
5 5 CDKN2B 1 0 3 0 E N S G 0 0 0 0 0 1 4 7 8 8 3 A D N A cyclin dependent kinase inhibitor 2B PANE L_APP NA
5 6 CDKN2C 1 0 3 1 E N S G 0 0 0 0 0 1 2 3 0 8 0 N A N A cyclin dependent kinase inhibitor 2C OTHER NA
5 7 CEBPA 1 0 5 0 E N S G 0 0 0 0 0 2 4 5 8 4 8 A D L o F CCAAT enhancer binding protein alpha N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Acute myeloid leukemia
5 8 CEBPE 1 0 5 3 E N S G 0 0 0 0 0 0 9 2 0 6 7 A R N A CCAAT enhancer binding protein epsilon OTHER NA
5 9 CENPJ 5 5 8 3 5 E N S G 0 0 0 0 0 1 5 1 8 4 9 N A N A centromere protein J OTHER NA
6 0 CEP57 9 7 0 2 E N S G 0 0 0 0 0 1 6 6 0 3 7 A R L o F centrosomal protein 57 NCGC NA
6 1 CHEK1 1 1 1 1 E N S G 0 0 0 0 0 1 4 9 5 5 4 N A N A checkpoint kinase 1 NCGC NA
6 2 CHEK2 1 1 2 0 0 E N S G 0 0 0 0 0 1 8 3 7 6 5 A D / A R L o F checkpoint kinase 2 CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Familial cancer of breast
6 3 CIB1 1 0 5 1 9 E N S G 0 0 0 0 0 1 8 5 0 4 3 A R N A calcium and integrin binding 1 PANE L_APP NA
6 4 COL7A1 1 2 9 4 E N S G 0 0 0 0 0 1 1 4 2 7 0 A D / A R L o F collagen type VII alpha 1 chain T CGA_P ANCAN _2018 Epidermolysis bullosa
6 5 CREBBP 1 3 8 7 E N S G 0 0 0 0 0 0 0 5 3 3 9 A D N A CREB binding protein PANE L_APP NA
6 6 CSF3R 1 4 4 1 E N S G 0 0 0 0 0 1 1 9 5 3 5 A D N A colony stimulating factor 3 receptor PANE L_APP NA
6 7 CTC1 8 0 1 6 9 E N S G 0 0 0 0 0 1 7 8 9 7 1 A R N A CST telomere replication complex component 1 PANE L_APP NA
6 8 CTNNA1 1 4 9 5 E N S G 0 0 0 0 0 0 4 4 1 1 5 A D L o F catenin alpha 1 NCGC, OTHER NA
6 9 CTNNB1 1 4 9 9 E N S G 0 0 0 0 0 1 6 8 0 3 6 A D N A catenin beta 1 NCGC ,PANE L_APP NA
7 0 CTR9 9 6 4 6 E N S G 0 0 0 0 0 1 9 8 7 3 0 A D N A CTR9 homolog, Paf1/RNA polymerase II complex component P ANEL_ APP,T CGA_P ANCAN _2018 NA
7 1 CTRC 1 1 3 3 0 E N S G 0 0 0 0 0 1 6 2 4 3 8 N A N A chymotrypsin C NCGC NA
7 2 CXCR4 7 8 5 2 E N S G 0 0 0 0 0 1 2 1 9 6 6 A D N A C-X-C motif chemokine receptor 4 C GC_94 NA
7 3 CYLD 1 5 4 0 E N S G 0 0 0 0 0 0 8 3 7 9 9 A D / A R L o F CYLD lysine 63 d eubiquitinase CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Brooke-Spiegler syndrome
7 4 DDB2 1 6 4 3 E N S G 0 0 0 0 0 1 3 4 5 7 4 A D / A R L o F damage specific DNA binding protein 2 CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Xeroderma pigmentosum, group E
7 5 DDX11 1 6 6 3 E N S G 0 0 0 0 0 0 1 3 5 7 3 A R N A DEAD/H-box helicase 11 OTHER NA
7 6 DDX41 5 1 4 2 8 E N S G 0 0 0 0 0 1 8 3 2 5 8 A D N A DEAD-box helicase 41 PANE L_APP NA
7 7 DGCR8 5 4 4 8 7 E N S G 0 0 0 0 0 1 2 8 1 9 1 A D N A DGCR8 m icroprocessor complex subunit PANE L_APP NA
7 8 DHCR7 1 7 1 7 E N S G 0 0 0 0 0 1 7 2 8 9 3 A R N A 7-dehyd rocholesterol reductase OTHER NA
7 9 DICER1 2 3 4 0 5 E N S G 0 0 0 0 0 1 0 0 6 9 7 A D / A R L o F dicer 1, ribonuclease III CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Pleuropulmonary blastoma; DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
8 0 DIRAS3 9 0 7 7 E N S G 0 0 0 0 0 1 6 2 5 9 5 N A N A DIRAS family GTPase 3 NCGC ,PANE L_APP NA
8 1 DIS3 2 2 8 9 4 E N S G 0 0 0 0 0 0 8 3 5 2 0 N A N A DIS3 homolog, exosome end oribonuclease and 3’-5’ ex oribonuclease OTHER NA
8 2 DIS3L 1 1 5 7 5 2 E N S G 0 0 0 0 0 1 6 6 9 3 8 A R N A DIS3 like exosome 3’-5’ ex oribonuclease OTHER NA
8 3 DIS3L2 1 2 9 5 6 3 E N S G 0 0 0 0 0 1 4 4 5 3 5 A R L o F DIS3 like 3’-5’ ex oribonuclease 2 N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Perlman syndrome
8 4 DKC1 1 7 3 6 E N S G 0 0 0 0 0 1 3 0 8 2 6 N A L o F dyskerin pseudouridine synthase 1 P ANEL_ APP,T CGA_P ANCAN _2018 Dyskeratosis congenita, X-linked
8 5 DNAJC21 1 3 4 2 1 8 E N S G 0 0 0 0 0 1 6 8 7 2 4 A R N A DnaJ heat shock protein family (Hsp40) member C21 PANE L_APP NA
8 6 DOCK8 8 1 7 0 4 E N S G 0 0 0 0 0 1 0 7 0 9 9 A R L o F dedicator of cytokinesis 8 P ANEL_ APP,T CGA_P ANCAN _2018 Hyper-Immunoglobulin E Syndrome, Autosomal Recessive
8 7 DROSHA 2 9 1 0 2 E N S G 0 0 0 0 0 1 1 3 3 6 0 A D N A drosha ribonuclease III T CGA_P ANCAN _2018 NA
8 8 DTX3L 1 5 1 6 3 6 E N S G 0 0 0 0 0 1 6 3 8 4 0 N A N A deltex E3 ubiquitin ligase 3L NCGC NA
8 9 EGFR 1 9 5 6 E N S G 0 0 0 0 0 1 4 6 6 4 8 A D G o F epidermal growth factor receptor CGC _94,N CGC,T CGA_P ANCAN _2018 NA
9 0 ELAC2 6 0 5 2 8 E N S G 0 0 0 0 0 0 0 6 7 4 4 N A N A elaC ribonuclease Z 2 PANE L_APP NA
9 1 ELANE 1 9 9 1 E N S G 0 0 0 0 0 1 9 7 5 6 1 A D L o F elastase, neutrophil expressed P ANEL_ APP,T CGA_P ANCAN _2018 Neutropenia, severe congenital 1, autosomal dominant
9 2 ELP1 8 5 1 8 E N S G 0 0 0 0 0 0 7 0 0 6 1 A D N A elongator acet yltransferase complex subunit 1 PANE L_APP NA
9 3 ENG 2 0 2 2 E N S G 0 0 0 0 0 1 0 6 9 9 1 A D N A endoglin ACMG _SF30 ,NCGC ,PANE L_APP Hereditary hemorrhagic telangiectasia
9 4 EP300 2 0 3 3 E N S G 0 0 0 0 0 1 0 0 3 9 3 A D N A E1A binding protein p300 OTHER NA
9 5 EPAS1 2 0 3 4 E N S G 0 0 0 0 0 1 1 6 0 1 6 N A N A endothelial PAS domain protein 1 OTHER NA
9 6 EPCAM 4 0 7 2 E N S G 0 0 0 0 0 1 1 9 8 8 8 A D L o F epithelial cell adhesion molecule N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Hereditary nonpolyposis colorectal cancer type 8
9 7 ERBB2 2 0 6 4 E N S G 0 0 0 0 0 1 4 1 7 3 6 N A N A erb-b2 receptor tyrosine kinase 2 OTHER NA
9 8 ERBB4 2 0 6 6 E N S G 0 0 0 0 0 1 7 8 5 6 8 A D N A erb-b2 receptor tyrosine kinase 4 C GC_94 NA
9 9 ERCC1 2 0 6 7 E N S G 0 0 0 0 0 0 1 2 0 6 1 A R N A ERCC excision repair 1, endonuclease non-catalytic subunit N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Cere brooculofacioskeletal syndrome 4
1 0 0 ERCC2 2 0 6 8 E N S G 0 0 0 0 0 1 0 4 8 8 4 A R L o F ERCC excision repair 2, TFIIH core complex helicase subunit CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Xeroderma pigmentosum, group D
1 0 1 ERCC3 2 0 7 1 E N S G 0 0 0 0 0 1 6 3 1 6 1 A R L o F ERCC excision repair 3, TFIIH core complex helicase subunit CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Xeroderma pigmentosum, complementation group b
1 0 2 ERCC4 2 0 7 2 E N S G 0 0 0 0 0 1 7 5 5 9 5 A R L o F ERCC excision repair 4, endonuclease catalytic subunit CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Xeroderma pigmentosum, group F; Fanconi anemia, complementation group Q
1 0 3 ERCC5 2 0 7 3 E N S G 0 0 0 0 0 1 3 4 8 9 9 A R L o F ERCC excision repair 5, endonuclease CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Xeroderma pigmentosum, group G
1 0 4 ERCC6 2 0 7 4 E N S G 0 0 0 0 0 2 2 5 8 3 0 A D / A R N A ERCC excision repair 6, chromatin remodeling factor OTHER NA
1 0 5 ERG 2 0 7 8 E N S G 0 0 0 0 0 1 5 7 5 5 4 N A N A ETS transcription factor ERG OTHER NA
1 0 6 ESR1 2 0 9 9 E N S G 0 0 0 0 0 0 9 1 8 3 1 N A N A estrogen receptor 1 PANE L_APP NA
1 0 7 ETV6 2 1 2 0 E N S G 0 0 0 0 0 1 3 9 0 8 3 A D N A ETS variant transcription factor 6 N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Thrombocytopenia 5
1 0 8 EXO1 9 1 5 6 E N S G 0 0 0 0 0 1 7 4 3 7 1 N A N A exonuclease 1 OTHER NA
1 0 9 EXT1 2 1 3 1 E N S G 0 0 0 0 0 1 8 2 1 9 7 A D / A R L o F exostosin glycos yltransferase 1 CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Chondrosarcoma
1 1 0 EXT2 2 1 3 2 E N S G 0 0 0 0 0 1 5 1 3 4 8 A D / A R L o F exostosin glycos yltransferase 2 CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Multiple exostoses type 2
1 1 1 EZH2 2 1 4 6 E N S G 0 0 0 0 0 1 0 6 4 6 2 A D L o F enhancer of zeste 2 polycomb repressive complex 2 subunit NCGC ,PANE L_APP NA
1 1 2 FAH 2 1 8 4 E N S G 0 0 0 0 0 1 0 3 8 7 6 A R L o F fumary lacetoacetate hydrolase T CGA_P ANCAN _2018 NA
1 1 3 FAN1 2 2 9 0 9 E N S G 0 0 0 0 0 1 9 8 6 9 0 N A N A FANCD2 and FANCI associated nuclease 1 OTHER NA
1 1 4 FANCA 2 1 7 5 E N S G 0 0 0 0 0 1 8 7 7 4 1 A R L o F FA co mplementation group A CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Fanconi anemia, complementation group A
1 1 5 FANCB 2 1 8 7 E N S G 0 0 0 0 0 1 8 1 5 4 4 N A L o F FA co mplementation group B NCGC ,PANE L_APP NA
1 1 6 FANCC 2 1 7 6 E N S G 0 0 0 0 0 1 5 8 1 6 9 A R L o F FA co mplementation group C CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Fanconi anemia, complementation group C
1 1 7 FANCD2 2 1 7 7 E N S G 0 0 0 0 0 1 4 4 5 5 4 A R L o F FA co mplementation group D2 CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Fanconi anemia, complementation group D2
1 1 8 FANCE 2 1 7 8 E N S G 0 0 0 0 0 1 1 2 0 3 9 A R L o F FA co mplementation group E CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Fanconi anemia, complementation group E
1 1 9 FANCF 2 1 8 8 E N S G 0 0 0 0 0 1 8 3 1 6 1 A R L o F FA co mplementation group F CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Fanconi anemia, complementation group F
1 2 0 FANCG 2 1 8 9 E N S G 0 0 0 0 0 2 2 1 8 2 9 A R L o F FA co mplementation group G CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Fanconi anemia, complementation group G
1 2 1 FANCI 5 5 2 1 5 E N S G 0 0 0 0 0 1 4 0 5 2 5 A R L o F FA co mplementation group I N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Fanconi anemia, complementation group I
1 2 2 FANCL 5 5 1 2 0 E N S G 0 0 0 0 0 1 1 5 3 9 2 A R L o F FA co mplementation group L N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Fanconi anemia, complementation group L
1 2 3 FANCM 5 7 6 9 7 E N S G 0 0 0 0 0 1 8 7 7 9 0 A D / A R L o F FA co mplementation group M N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 NA
1 2 4 FAS 3 5 5 E N S G 0 0 0 0 0 0 2 6 1 0 3 A D L o F Fas cell surface death receptor P ANEL_ APP,T CGA_P ANCAN _2018 Autoimmune lymphoproliferative syndrome
1 2 5 FAT1 2 1 9 5 E N S G 0 0 0 0 0 0 8 3 8 5 7 N A N A FAT atypical cadherin 1 C GC_94 NA
1 2 6 FBXW7 5 5 2 9 4 E N S G 0 0 0 0 0 1 0 9 6 7 0 N A N A F-box and WD repeat domain containing 7 OTHER NA
1 2 7 FEN1 2 2 3 7 E N S G 0 0 0 0 0 1 6 8 4 9 6 N A N A flap struc ture-specific endonuclease 1 C GC_94 NA
1 2 8 FGF23 8 0 7 4 E N S G 0 0 0 0 0 1 1 8 9 7 2 A D / A R N A fibroblast growth factor 23 PANE L_APP NA
1 2 9 FGFR1 2 2 6 0 E N S G 0 0 0 0 0 0 7 7 7 8 2 A D N A fibroblast growth factor receptor 1 OTHER NA
1 3 0 FGFR2 2 2 6 3 E N S G 0 0 0 0 0 0 6 6 4 6 8 A D N A fibroblast growth factor receptor 2 PANE L_APP NA
1 3 1 FGFR3 2 2 6 1 E N S G 0 0 0 0 0 0 6 8 0 7 8 A D N A fibroblast growth factor receptor 3 PANE L_APP NA
1 3 2 FH 2 2 7 1 E N S G 0 0 0 0 0 0 9 1 4 8 3 A D / A R L o F fumarate hydratase CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Hereditary leiomyomatosis and renal cell cancer
1 3 3 FHIT 2 2 7 2 E N S G 0 0 0 0 0 1 8 9 2 8 3 N A N A fragile histidine triad diadenosine t riphosphatase OTHER NA
1 3 4 FLCN 2 0 1 1 6 3 E N S G 0 0 0 0 0 1 5 4 8 0 3 A D / A R L o F folliculin CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 NA
1 3 5 FLT3 2 3 2 2 E N S G 0 0 0 0 0 1 2 2 0 2 5 N A N A fms related receptor tyrosine kinase 3 OTHER NA
1 3 6 FMR1 2 3 3 2 E N S G 0 0 0 0 0 1 0 2 0 8 1 X D N A FMRP translational regulator 1 OTHER NA
1 3 7 FOXE1 2 3 0 4 E N S G 0 0 0 0 0 1 7 8 9 1 9 A D N A forkhead box E1 PANE L_APP NA
1 3 8 FOXO1 2 3 0 8 E N S G 0 0 0 0 0 1 5 0 9 0 7 N A N A forkhead box O1 PANE L_APP NA
1 3 9 FOXO3 2 3 0 9 E N S G 0 0 0 0 0 1 1 8 6 8 9 A D N A forkhead box O3 PANE L_APP NA
1 4 0 FOXO4 4 3 0 3 E N S G 0 0 0 0 0 1 8 4 4 8 1 N A N A forkhead box O4 OTHER NA
1 4 1 FOXP1 2 7 0 8 6 E N S G 0 0 0 0 0 1 1 4 8 6 1 N A N A forkhead box P1 OTHER NA
1 4 2 G6PC1 2 5 3 8 E N S G 0 0 0 0 0 1 3 1 4 8 2 N A N A glucose- 6-phosphatase catalytic subunit 1 OTHER NA
1 4 3 GALNT12 7 9 6 9 5 E N S G 0 0 0 0 0 1 1 9 5 1 4 A D L o F polypeptide N-acety lgalactosamin yltransferase 12 NCGC NA
1 4 4 GALNT3 2 5 9 1 E N S G 0 0 0 0 0 1 1 5 3 3 9 A R N A polypeptide N-acety lgalactosamin yltransferase 3 PANE L_APP NA
1 4 5 GATA1 2 6 2 3 E N S G 0 0 0 0 0 1 0 2 1 4 5 N A N A GATA binding protein 1 PANE L_APP NA
1 4 6 GATA2 2 6 2 4 E N S G 0 0 0 0 0 1 7 9 3 4 8 A D L o F GATA binding protein 2 N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
1 4 7 GATA3 2 6 2 5 E N S G 0 0 0 0 0 1 0 7 4 8 5 N A N A GATA binding protein 3 OTHER NA
1 4 8 GBA 2 6 2 9 E N S G 0 0 0 0 0 1 7 7 6 2 8 A R L o F gluco sylceramidase beta P ANEL_ APP,T CGA_P ANCAN _2018 NA
1 4 9 GDNF 2 6 6 8 E N S G 0 0 0 0 0 1 6 8 6 2 1 N A N A glial cell derived neurotrophic factor PANE L_APP NA
1 5 0 GJB2 2 7 0 6 E N S G 0 0 0 0 0 1 6 5 4 7 4 A D L o F gap junction protein beta 2 T CGA_P ANCAN _2018 NA
1 5 1 GLA 2 7 1 7 E N S G 0 0 0 0 0 1 0 2 3 9 3 N A L o F galactosidase alpha ACMG _SF30 ,PANE L_APP Fabry disease
1 5 2 GLI3 2 7 3 7 E N S G 0 0 0 0 0 1 0 6 5 7 1 A D N A GLI family zinc finger 3 OTHER NA
1 5 3 GNAS 2 7 7 8 E N S G 0 0 0 0 0 0 8 7 4 6 0 A D & m o s a i c N A GNAS complex locus OTHER ,PANE L_APP NA
1 5 4 GPC3 2 7 1 9 E N S G 0 0 0 0 0 1 4 7 2 5 7 N A L o F glypican 3 CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Simpson-Golabi-Behmel syndrome type 1
1 5 5 GPC4 2 2 3 9 E N S G 0 0 0 0 0 0 7 6 7 1 6 N A N A glypican 4 OTHER NA
1 5 6 GPR161 2 3 4 3 2 E N S G 0 0 0 0 0 1 4 3 1 4 7 A D N A G pr otein-coupled receptor 161 PANE L_APP NA
1 5 7 GREM1 2 6 5 8 5 E N S G 0 0 0 0 0 1 6 6 9 2 3 A D G o F gremlin 1, DAN family BMP antagonist NCGC ,PANE L_APP NA
1 5 8 H19 2 8 3 1 2 0 E N S G 0 0 0 0 0 1 3 0 6 0 0 N A N A H19 imprinted maternally expressed transcript PANE L_APP NA
1 5 9 HABP2 3 0 2 6 E N S G 0 0 0 0 0 1 4 8 7 0 2 A D N A hyaluronan binding protein 2 NCGC ,PANE L_APP NA
1 6 0 HAX1 1 0 4 5 6 E N S G 0 0 0 0 0 1 4 3 5 7 5 A R N A HCLS1 associated protein X-1 PANE L_APP NA
1 6 1 HFE 3 0 7 7 E N S G 0 0 0 0 0 0 1 0 7 0 4 A R L o F homeostatic iron regulator A CMG_S F30,T CGA_P ANCAN _2018 Hereditary hemochromatosis
1 6 2 HMBS 3 1 4 5 E N S G 0 0 0 0 0 2 5 6 2 6 9 A D L o F hydrox ymethylbilane synthase T CGA_P ANCAN _2018 NA
1 6 3 HNF1A 6 9 2 7 E N S G 0 0 0 0 0 1 3 5 1 0 0 A R L o F HNF1 homeobox A ACM G_SF3 0,CGC _94,N CGC,T CGA_P ANCAN _2018 Hepatic adenomas, familial; NA
1 6 4 HNF1B 6 9 2 8 E N S G 0 0 0 0 0 2 7 5 4 1 0 N A N A HNF1 homeobox B NCGC NA
1 6 5 HOXB13 1 0 4 8 1 E N S G 0 0 0 0 0 1 5 9 1 8 4 A D N A homeobox B13 NCGC ,PANE L_APP NA
1 6 6 HRAS 3 2 6 5 E N S G 0 0 0 0 0 1 7 4 7 7 5 A D G o F HRas pr oto-oncogene, GTPase CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Costello syndrome
1 6 7 IDH1 3 4 1 7 E N S G 0 0 0 0 0 1 3 8 4 1 3 N A N A isocitrate dehydrogenase (NADP(+)) 1 OTHER NA
1 6 8 IGF2 3 4 8 1 E N S G 0 0 0 0 0 1 6 7 2 4 4 N A N A insulin like growth factor 2 PANE L_APP NA
1 6 9 IGF2R 3 4 8 2 E N S G 0 0 0 0 0 1 9 7 0 8 1 N A N A insulin like growth factor 2 receptor OTHER NA
1 7 0 IKZF1 1 0 3 2 0 E N S G 0 0 0 0 0 1 8 5 8 1 1 A D N A IKAROS family zinc finger 1 OTHER ,PANE L_APP NA
1 7 1 IKZF3 2 2 8 0 6 E N S G 0 0 0 0 0 1 6 1 4 0 5 N A N A IKAROS family zinc finger 3 OTHER NA
1 7 2 IRF4 3 6 6 2 E N S G 0 0 0 0 0 1 3 7 2 6 5 A D N A interferon regulatory factor 4 PANE L_APP NA
1 7 3 ITK 3 7 0 2 E N S G 0 0 0 0 0 1 1 3 2 6 3 A R L o F IL2 inducible T cell kinase P ANEL_ APP,T CGA_P ANCAN _2018 Lymphoproliferative syndrome 1
1 7 4 JAK1 3 7 1 6 E N S G 0 0 0 0 0 1 6 2 4 3 4 N A N A Janus kinase 1 OTHER NA
1 7 5 JAK2 3 7 1 7 E N S G 0 0 0 0 0 0 9 6 9 6 8 A D / A R N A Janus kinase 2 PANE L_APP NA
1 7 6 JAK3 3 7 1 8 E N S G 0 0 0 0 0 1 0 5 6 3 9 A R N A Janus kinase 3 OTHER NA
1 7 7 JMJD1C 2 2 1 0 3 7 E N S G 0 0 0 0 0 1 7 1 9 8 8 A D N A jumonji domain containing 1C T CGA_P ANCAN _2018 NA
1 7 8 KCNQ1 3 7 8 4 E N S G 0 0 0 0 0 0 5 3 9 1 8 A D L o F potassium voltage-gated channel subfamily Q member 1 ACMG_ SF30, OTHER Long QT syndrome 1
1 7 9 KCNQ1OT1 1 0 9 8 4 E N S G 0 0 0 0 0 2 6 9 8 2 1 N A N A KCNQ1 opposite str and/antisense transcript 1 PANE L_APP NA
1 8 0 KDM3B 5 1 7 8 0 E N S G 0 0 0 0 0 1 2 0 7 3 3 N A N A lysine demethylase 3B OTHER NA
1 8 1 KDR 3 7 9 1 E N S G 0 0 0 0 0 1 2 8 0 5 2 A D N A kinase insert domain receptor C GC_94 NA
1 8 2 KIF1B 2 3 0 9 5 E N S G 0 0 0 0 0 0 5 4 5 2 3 N A N A kinesin family member 1B NCGC ,PANE L_APP NA
1 8 3 KISS1R 8 4 6 3 4 E N S G 0 0 0 0 0 1 1 6 0 1 4 N A N A KISS1 receptor PANE L_APP NA
1 8 4 KIT 3 8 1 5 E N S G 0 0 0 0 0 1 5 7 4 0 4 A D G o F KIT pr oto-oncogene, receptor tyrosine kinase CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Gastrointestinal stromal tumor
1 8 5 KITLG 4 2 5 4 E N S G 0 0 0 0 0 0 4 9 1 3 0 A D N A KIT ligand PANE L_APP NA
1 8 6 KLF6 1 3 1 6 E N S G 0 0 0 0 0 0 6 7 0 8 2 N A N A Kruppel like factor 6 OTHER NA
1 8 7 KLLN 1 0 0 1 4 4 7 4 8 E N S G 0 0 0 0 0 2 2 7 2 6 8 N A N A killin, p53 regulated DNA replication inhibitor PANE L_APP NA
1 8 8 KMT2D 8 0 8 5 E N S G 0 0 0 0 0 1 6 7 5 4 8 N A N A lysine meth yltransferase 2D OTHER NA
1 8 9 KRAS 3 8 4 5 E N S G 0 0 0 0 0 1 3 3 7 0 3 A D / A R N A KRAS pr oto-oncogene, GTPase P ANEL_ APP,T CGA_P ANCAN _2018 Noonan syndrome 3; RAS-associated autoimmune leukoproliferative disorder
1 9 0 KRT17 3 8 7 2 E N S G 0 0 0 0 0 1 2 8 4 2 2 A D N A keratin 17 PANE L_APP NA
1 9 1 L2HGDH 7 9 9 4 4 E N S G 0 0 0 0 0 0 8 7 2 9 9 A R N A L-2-hyd roxyglutarate dehydrogenase OTHER NA
1 9 2 LCK 3 9 3 2 E N S G 0 0 0 0 0 1 8 2 8 6 6 A R N A LCK pr oto-oncogene, Src family tyrosine kinase OTHER NA
1 9 3 LEF1 5 1 1 7 6 E N S G 0 0 0 0 0 1 3 8 7 9 5 A D N A lymphoid enhancer binding factor 1 PANE L_APP NA
1 9 4 LEMD3 2 3 5 9 2 E N S G 0 0 0 0 0 1 7 4 1 0 6 A D N A LEM domain containing 3 PANE L_APP NA
1 9 5 LIG4 3 9 8 1 E N S G 0 0 0 0 0 1 7 4 4 0 5 A R N A DNA ligase 4 PANE L_APP NA
1 9 6 LMO1 4 0 0 4 E N S G 0 0 0 0 0 1 6 6 4 0 7 A D N A LIM domain only 1 CGC _94,T CGA_P ANCAN _2018 Neuroblastoma, susceptibility to, 7
1 9 7 LRIG3 1 2 1 2 2 7 E N S G 0 0 0 0 0 1 3 9 2 6 3 N A N A leucine rich repeats and i mmunoglobulin like domains 3 OTHER NA
1 9 8 LZTR1 8 2 1 6 E N S G 0 0 0 0 0 0 9 9 9 4 9 A D / A R N A leucine zipper like transcription regulator 1 C GC_94 ,NCGC ,PANE L_APP NA
1 9 9 MAD2L2 1 0 4 5 9 E N S G 0 0 0 0 0 1 1 6 6 7 0 A R N A mitotic arrest deficient 2 like 2 PANE L_APP NA
2 0 0 MAF 4 0 9 4 E N S G 0 0 0 0 0 1 7 8 5 7 3 N A N A MAF bZIP transcription factor OTHER NA
2 0 1 MAFB 9 9 3 5 E N S G 0 0 0 0 0 2 0 4 1 0 3 N A N A MAF bZIP transcription factor B OTHER NA
2 0 2 MAP2K1 5 6 0 4 E N S G 0 0 0 0 0 1 6 9 0 3 2 A D N A mito gen-activated protein kinase kinase 1 P ANEL_ APP,T CGA_P ANCAN _2018 NA
2 0 3 MAP2K2 5 6 0 5 E N S G 0 0 0 0 0 1 2 6 9 3 4 A D N A mito gen-activated protein kinase kinase 2 P ANEL_ APP,T CGA_P ANCAN _2018 NA
2 0 4 MAP2K4 6 4 1 6 E N S G 0 0 0 0 0 0 6 5 5 5 9 N A N A mito gen-activated protein kinase kinase 4 OTHER NA
2 0 5 MAP3K1 4 2 1 4 E N S G 0 0 0 0 0 0 9 5 0 1 5 N A N A mito gen-activated protein kinase kinase kinase 1 NCGC NA
2 0 6 MAX 4 1 4 9 E N S G 0 0 0 0 0 1 2 5 9 5 2 A D / A R L o F MYC associated factor X ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Hereditary Paragangl ioma-Pheochromocytoma Syndromes
2 0 7 MBD4 8 9 3 0 E N S G 0 0 0 0 0 1 2 9 0 7 1 A R N A methyl-CpG binding domain 4, DNA glycosylase PANE L_APP NA
2 0 8 MC1R 4 1 5 7 E N S G 0 0 0 0 0 2 5 8 8 3 9 A R N A melanocortin 1 receptor PANE L_APP NA
2 0 9 MDH2 4 1 9 1 E N S G 0 0 0 0 0 1 4 6 7 0 1 A D N A malate dehydrogenase 2 PANE L_APP NA
2 1 0 MEN1 4 2 2 1 E N S G 0 0 0 0 0 1 3 3 8 9 5 A D / A R L o F menin 1 ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Multiple endocrine neoplasia, type 1
2 1 1 MET 4 2 3 3 E N S G 0 0 0 0 0 1 0 5 9 7 6 A D G o F MET pr oto-oncogene, receptor tyrosine kinase N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Renal cell carcinoma
2 1 2 MINPP1 9 5 6 2 E N S G 0 0 0 0 0 1 0 7 7 8 9 A D N A multiple inositol- polyphosphate phosphatase 1 PANE L_APP NA
2 1 3 MITF 4 2 8 6 E N S G 0 0 0 0 0 1 8 7 0 9 8 A D G o F melanocyte inducing transcription factor N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Hereditary melanoma
2 1 4 MLH1 4 2 9 2 E N S G 0 0 0 0 0 0 7 6 2 4 2 A D / A R L o F mutL homolog 1 ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Hereditary nonpolyposis colorectal neoplasms; Turcot syndrome; Hereditary nonpolyposis colon cancer; Lynch syndrome
2 1 5 MLH3 2 7 0 3 0 E N S G 0 0 0 0 0 1 1 9 6 8 4 N A N A mutL homolog 3 NCGC NA
2 1 6 MN1 4 3 3 0 E N S G 0 0 0 0 0 1 6 9 1 8 4 A D N A MN1 pr oto-oncogene, tr anscriptional regulator OTHER NA
2 1 7 MPL 4 3 5 2 E N S G 0 0 0 0 0 1 1 7 4 0 0 A D N A MPL pr oto-oncogene, t hrombopoietin receptor CGC _94,T CGA_P ANCAN _2018 NA
2 1 8 MRE11 4 3 6 1 E N S G 0 0 0 0 0 0 2 0 9 2 2 N A N A MRE11 homolog, double strand break repair nuclease NCGC NA
2 1 9 MSH2 4 4 3 6 E N S G 0 0 0 0 0 0 9 5 0 0 2 A D / A R L o F mutS homolog 2 ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Hereditary nonpolyposis colorectal neoplasms; Turcot syndrome; Hereditary nonpolyposis colon cancer; Lynch syndrome
2 2 0 MSH3 4 4 3 7 E N S G 0 0 0 0 0 1 1 3 3 1 8 A R N A mutS homolog 3 NCGC ,PANE L_APP NA
2 2 1 MSH5 4 4 3 9 E N S G 0 0 0 0 0 2 0 4 4 1 0 N A N A mutS homolog 5 PANE L_APP NA
2 2 2 MSH6 2 9 5 6 E N S G 0 0 0 0 0 1 1 6 0 6 2 A D / A R L o F mutS homolog 6 ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Hereditary nonpolyposis colorectal neoplasms; Turcot syndrome; Hereditary nonpolyposis colon cancer; Lynch syndrome
2 2 3 MSR1 4 4 8 1 E N S G 0 0 0 0 0 0 3 8 9 4 5 A D N A macrophage scavenger receptor 1 PANE L_APP NA
2 2 4 MTAP 4 5 0 7 E N S G 0 0 0 0 0 0 9 9 8 1 0 A D L o F methyl thioadenosine phosphorylase P ANEL_ APP,T CGA_P ANCAN _2018 Diaphyseal medullary stenosis-bone malignancy syndrome
2 2 5 MUC1 4 5 8 2 E N S G 0 0 0 0 0 1 8 5 4 9 9 A D N A mucin 1, cell surface associated OTHER NA
2 2 6 MUC5B 7 2 7 8 9 7 E N S G 0 0 0 0 0 1 1 7 9 8 3 N A N A mucin 5B, oligomeric mucu s/gel-forming OTHER NA
2 2 7 MUTYH 4 5 9 5 E N S G 0 0 0 0 0 1 3 2 7 8 1 A R L o F mutY DNA glycosylase ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 MYH-associated polyposis
2 2 8 MYCN 4 6 1 3 E N S G 0 0 0 0 0 1 3 4 3 2 3 N A N A MYCN pr oto-oncogene, bHLH transcription factor OTHER NA
2 2 9 NAF1 9 2 3 4 5 E N S G 0 0 0 0 0 1 4 5 4 1 4 A D N A nuclear assembly factor 1 ribo nucleoprotein PANE L_APP NA
2 3 0 NBN 4 6 8 3 E N S G 0 0 0 0 0 1 0 4 3 2 0 A R L o F nibrin CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Microcephaly, normal intelligence and immunodeficiency
2 3 1 NCOA4 8 0 3 1 E N S G 0 0 0 0 0 2 6 6 4 1 2 N A N A nuclear receptor coactivator 4 OTHER NA
2 3 2 NDRG1 1 0 3 9 7 E N S G 0 0 0 0 0 1 0 4 4 1 9 N A N A N-myc downstream regulated 1 OTHER NA
2 3 3 NDUFA13 5 1 0 7 9 E N S G 0 0 0 0 0 1 8 6 0 1 0 A D N A NA DH:ubiquinone o xidoreductase subunit A13 PANE L_APP NA
2 3 4 NF1 4 7 6 3 E N S G 0 0 0 0 0 1 9 6 7 1 2 A D / A R L o F neurofibromin 1 CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Neurofibromatosis, type 1
2 3 5 NF2 4 7 7 1 E N S G 0 0 0 0 0 1 8 6 5 7 5 A D / A R L o F neurofibromin 2 ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Neurofibromatosis, type 2
2 3 6 NFIX 4 7 8 4 E N S G 0 0 0 0 0 0 0 8 4 4 1 N A N A nuclear factor I X PANE L_APP NA
2 3 7 NHP2 5 5 6 5 1 E N S G 0 0 0 0 0 1 4 5 9 1 2 A R N A NHP2 ribo nucleoprotein P ANEL_ APP,T CGA_P ANCAN _2018 Dyskeratosis congenita, autosomal recessive 2
2 3 8 NKX2-1 7 0 8 0 E N S G 0 0 0 0 0 1 3 6 3 5 2 A D N A NK2 homeobox 1 PANE L_APP NA
2 3 9 NOP10 5 5 5 0 5 E N S G 0 0 0 0 0 1 8 2 1 1 7 A R N A NOP10 ribo nucleoprotein P ANEL_ APP,T CGA_P ANCAN _2018 Dyskeratosis congenita autosomal recessive 1
2 4 0 NOTCH1 4 8 5 1 E N S G 0 0 0 0 0 1 4 8 4 0 0 N A N A notch receptor 1 OTHER NA
2 4 1 NOTCH3 4 8 5 4 E N S G 0 0 0 0 0 0 7 4 1 8 1 A D N A notch receptor 3 NCGC ,PANE L_APP NA
2 4 2 NR4A3 8 0 1 3 E N S G 0 0 0 0 0 1 1 9 5 0 8 N A N A nuclear receptor subfamily 4 group A member 3 OTHER NA
2 4 3 NRAS 4 8 9 3 E N S G 0 0 0 0 0 2 1 3 2 8 1 A D N A NRAS pr oto-oncogene, GTPase P ANEL_ APP,T CGA_P ANCAN _2018 NA; Epidermal nevus; Large congenital melanocytic nevus; RAS-associated autoimmune leukoproliferative disorder; Noonan syndrome 6; Rasopathy
2 4 4 NSD1 6 4 3 2 4 E N S G 0 0 0 0 0 1 6 5 6 7 1 A D L o F nuclear receptor binding SET domain protein 1 NCGC ,PANE L_APP NA
2 4 5 NTHL1 4 9 1 3 E N S G 0 0 0 0 0 0 6 5 0 5 7 A R N A nth like DNA glycosylase 1 CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Familial adenomatous polyposis 3
2 4 6 NTRK1 4 9 1 4 E N S G 0 0 0 0 0 1 9 8 4 0 0 A D N A neurotrophic receptor tyrosine kinase 1 PANE L_APP NA
2 4 7 NTRK3 4 9 1 6 E N S G 0 0 0 0 0 1 4 0 5 3 8 N A N A neurotrophic receptor tyrosine kinase 3 OTHER NA
2 4 8 NYNRIN 5 7 5 2 3 E N S G 0 0 0 0 0 2 0 5 9 7 8 N A N A NYN domain and retroviral integrase containing OTHER NA
2 4 9 OGG1 4 9 6 8 E N S G 0 0 0 0 0 1 1 4 0 2 6 N A N A 8-oxoguanine DNA glycosylase NCGC NA
2 5 0 PALB2 7 9 7 2 8 E N S G 0 0 0 0 0 0 8 3 0 9 3 A D / A R L o F partner and localizer of BRCA2 ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Familial cancer of breast; Fanconi anemia, complementation group N
2 5 1 PARN 5 0 7 3 E N S G 0 0 0 0 0 1 4 0 6 9 4 A D / A R N A pol y(A)-specific ribonuclease PANE L_APP NA
2 5 2 PAX3 5 0 7 7 E N S G 0 0 0 0 0 1 3 5 9 0 3 N A N A paired box 3 PANE L_APP NA
2 5 3 PAX5 5 0 7 9 E N S G 0 0 0 0 0 1 9 6 0 9 2 A D N A paired box 5 N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Leukemia, acute lymphoblastic, susceptibility to, 3
2 5 4 PAX6 5 0 8 0 E N S G 0 0 0 0 0 0 0 7 3 7 2 A D N A paired box 6 PANE L_APP NA
2 5 5 PAX7 5 0 8 1 E N S G 0 0 0 0 0 0 0 9 7 0 9 N A N A paired box 7 PANE L_APP NA
2 5 6 PBRM1 5 5 1 9 3 E N S G 0 0 0 0 0 1 6 3 9 3 9 N A N A polybromo 1 OTHER NA
2 5 7 PDGFRA 5 1 5 6 E N S G 0 0 0 0 0 1 3 4 8 5 3 A D G o F platelet derived growth factor receptor alpha CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Gastrointestinal stromal tumor
2 5 8 PDGFRB 5 1 5 9 E N S G 0 0 0 0 0 1 1 3 7 2 1 A D N A platelet derived growth factor receptor beta PANE L_APP NA
2 5 9 PHF6 8 4 2 9 5 E N S G 0 0 0 0 0 1 5 6 5 3 1 N A N A PHD finger protein 6 OTHER NA
2 6 0 PHOX2B 8 9 2 9 E N S G 0 0 0 0 0 1 0 9 1 3 2 A D / A R L o F paired like homeobox 2B CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Neuroblastoma 2
2 6 1 PIK3CA 5 2 9 0 E N S G 0 0 0 0 0 1 2 1 8 7 9 A D G o F phosphatidy linositol-4,5 -bisphosphate 3-kinase catalytic subunit alpha NCGC ,PANE L_APP NA
2 6 2 PINK1 6 5 0 1 8 E N S G 0 0 0 0 0 1 5 8 8 2 8 N A N A PTEN induced kinase 1 NCGC NA
2 6 3 PML 5 3 7 1 E N S G 0 0 0 0 0 1 4 0 4 6 4 N A N A PML nuclear body scaffold OTHER NA
2 6 4 PMS1 5 3 7 8 E N S G 0 0 0 0 0 0 6 4 9 3 3 A R N A PMS1 homolog 1, mismatch repair system component CGC _94,N CGC,T CGA_P ANCAN _2018 NA
2 6 5 PMS2 5 3 9 5 E N S G 0 0 0 0 0 1 2 2 5 1 2 A D / A R L o F PMS1 homolog 2, mismatch repair system component ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Hereditary nonpolyposis colorectal neoplasms; Turcot syndrome; Hereditary nonpolyposis colon cancer; Lynch syndrome
2 6 6 POLA1 5 4 2 2 E N S G 0 0 0 0 0 1 0 1 8 6 8 N A N A DNA polymerase alpha 1, catalytic subunit PANE L_APP NA
2 6 7 POLD1 5 4 2 4 E N S G 0 0 0 0 0 0 6 2 8 2 2 A D L o F DNA polymerase delta 1, catalytic subunit CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 NA
2 6 8 POLE 5 4 2 6 E N S G 0 0 0 0 0 1 7 7 0 8 4 A D / A R L o F DNA polymerase epsilon, catalytic subunit CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 NA
2 6 9 POLH 5 4 2 9 E N S G 0 0 0 0 0 1 7 0 7 3 4 A R L o F DNA polymerase eta P ANEL_ APP,T CGA_P ANCAN _2018 Xeroderma pigmentosum variant type
2 7 0 POLQ 1 0 7 2 1 E N S G 0 0 0 0 0 0 5 1 3 4 1 N A N A DNA polymerase theta C GC_94 NA
2 7 1 PORCN 6 4 8 4 0 E N S G 0 0 0 0 0 1 0 2 3 1 2 N A N A porcupine O-ac yltransferase PANE L_APP NA
2 7 2 POT1 2 5 9 1 3 E N S G 0 0 0 0 0 1 2 8 5 1 3 A D N A protection of telomeres 1 N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Melanoma, cutaneous malignant, susceptibility to, 10
2 7 3 PPM1D 8 4 9 3 E N S G 0 0 0 0 0 1 7 0 8 3 6 N A L o F protein phosphatase, Mg2+/Mn2+ dependent 1D NCGC ,PANE L_APP NA
2 7 4 PPP1CB 5 5 0 0 E N S G 0 0 0 0 0 2 1 3 6 3 9 A D N A protein phosphatase 1 catalytic subunit beta PANE L_APP NA
2 7 5 PRDM1 6 3 9 E N S G 0 0 0 0 0 0 5 7 6 5 7 N A N A PR/SET domain 1 OTHER NA
2 7 6 PRDM9 5 6 9 7 9 E N S G 0 0 0 0 0 1 6 4 2 5 6 A D N A PR/SET domain 9 T CGA_P ANCAN _2018 NA
2 7 7 PRF1 5 5 5 1 E N S G 0 0 0 0 0 1 8 0 6 4 4 A R L o F perforin 1 CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Familial hemophagocytic lymphohistiocytosis 2
2 7 8 PRKAR1A 5 5 7 3 E N S G 0 0 0 0 0 1 0 8 9 4 6 A D / A R L o F protein kinase c AMP-dependent type I regulatory subunit alpha CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Carney complex
2 7 9 PRKN 5 0 7 1 E N S G 0 0 0 0 0 1 8 5 3 4 5 N A N A parkin RBR E3 ubiquitin protein ligase OTHER NA
2 8 0 PRSS1 5 6 4 4 E N S G 0 0 0 0 0 2 0 4 9 8 3 A D L o F serine protease 1 N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Hereditary pancreatitis
2 8 1 PTCH1 5 7 2 7 E N S G 0 0 0 0 0 1 8 5 9 2 0 A D / A R L o F patched 1 CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Gorlin syndrome
2 8 2 PTCH2 8 6 4 3 E N S G 0 0 0 0 0 1 1 7 4 2 5 A D N A patched 2 PANE L_APP NA
2 8 3 PTCSC1 1 0 0 3 0 2 5 2 2 E N S G 0 0 0 0 0 2 8 7 7 3 6 A D N A papillary thyroid carcinoma s usceptibility candidate 1 PANE L_APP NA
2 8 4 PTCSC3 1 0 0 8 8 6 9 6 4 N A N A N A papillary thyroid carcinoma s usceptibility candidate 3 PANE L_APP NA
2 8 5 PTEN 5 7 2 8 E N S G 0 0 0 0 0 1 7 1 8 6 2 A D / A R L o F phosphatase and tensin homolog ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 PTEN hamartoma tumor syndrome; Cowden syndrome 1
2 8 6 PTPN11 5 7 8 1 E N S G 0 0 0 0 0 1 7 9 2 9 5 A D G o F protein tyrosine phosphatase non-receptor type 11 N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Noonan syndrome
2 8 7 PTPN12 5 7 8 2 E N S G 0 0 0 0 0 1 2 7 9 4 7 N A N A protein tyrosine phosphatase non-receptor type 12 PANE L_APP NA
2 8 8 PTPN13 5 7 8 3 E N S G 0 0 0 0 0 1 6 3 6 2 9 A R N A protein tyrosine phosphatase non-receptor type 13 C GC_94 NA
2 8 9 PTPRJ 5 7 9 5 E N S G 0 0 0 0 0 1 4 9 1 7 7 N A N A protein tyrosine phosphatase receptor type J OTHER NA
2 9 0 RABL3 2 8 5 2 8 2 E N S G 0 0 0 0 0 1 4 4 8 4 0 A D N A RAB, member of RAS oncogene family like 3 PANE L_APP NA
2 9 1 RAD50 1 0 1 1 1 E N S G 0 0 0 0 0 1 1 3 5 2 2 A D / A R L o F RAD50 double strand break repair protein NCGC NA
2 9 2 RAD51 5 8 8 8 E N S G 0 0 0 0 0 0 5 1 1 8 0 A D N A RAD51 recombinase NCGC ,PANE L_APP NA
2 9 3 RAD51B 5 8 9 0 E N S G 0 0 0 0 0 1 8 2 1 8 5 N A N A RAD51 paralog B NCGC NA
2 9 4 RAD51C 5 8 8 9 E N S G 0 0 0 0 0 1 0 8 3 8 4 A D / A R L o F RAD51 paralog C N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Fanconi anemia, complementation group O
2 9 5 RAD51D 5 8 9 2 E N S G 0 0 0 0 0 1 8 5 3 7 9 A D L o F RAD51 paralog D N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Breast-ovarian cancer, familial 4
2 9 6 RAD54L 8 4 3 8 E N S G 0 0 0 0 0 0 8 5 9 9 9 N A N A RAD54 like PANE L_APP NA
2 9 7 RAF1 5 8 9 4 E N S G 0 0 0 0 0 1 3 2 1 5 5 A D N A Raf-1 pr oto-oncogene, ser ine/threonine kinase P ANEL_ APP,T CGA_P ANCAN _2018 LEOPARD syndrome 2; Noonan syndrome 5
2 9 8 RASA1 5 9 2 1 E N S G 0 0 0 0 0 1 4 5 7 1 5 N A N A RAS p21 protein activator 1 OTHER NA
2 9 9 RB1 5 9 2 5 E N S G 0 0 0 0 0 1 3 9 6 8 7 A D / A R L o F RB tr anscriptional corepressor 1 ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Osteosarcoma; Retinoblastoma
3 0 0 RCC2 5 5 9 2 0 E N S G 0 0 0 0 0 1 7 9 0 5 1 N A N A regulator of chromosome condensation 2 NCGC NA
3 0 1 RECQL 5 9 6 5 E N S G 0 0 0 0 0 0 0 4 7 0 0 A D N A RecQ like helicase T CGA_P ANCAN _2018 NA
3 0 2 RECQL4 9 4 0 1 E N S G 0 0 0 0 0 1 6 0 9 5 7 A R L o F RecQ like helicase 4 CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Rothmund-Thomson syndrome
3 0 3 REST 5 9 7 8 E N S G 0 0 0 0 0 0 8 4 0 9 3 A D N A RE1 silencing transcription factor PANE L_APP NA
3 0 4 RET 5 9 7 9 E N S G 0 0 0 0 0 1 6 5 7 3 1 A D G o F ret p roto-oncogene ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Multiple endocrine neoplasia, type 2a; Multiple endocrine neoplasia, type 2b; Familial medullary thyroid carcinoma
3 0 5 RFWD3 5 5 1 5 9 E N S G 0 0 0 0 0 1 6 8 4 1 1 N A N A ring finger and WD repeat domain 3 C GC_94 NA
3 0 6 RHBDF2 7 9 6 5 1 E N S G 0 0 0 0 0 1 2 9 6 6 7 A D G o F rhomboid 5 homolog 2 N CGC,T CGA_P ANCAN _2018 Palmoplantar k eratoderma-esophageal carcinoma syndrome
3 0 7 RING1 6 0 1 5 E N S G 0 0 0 0 0 2 0 4 2 2 7 N A N A ring finger protein 1 NCGC NA
3 0 8 RINT1 6 0 5 6 1 E N S G 0 0 0 0 0 1 3 5 2 4 9 N A N A RAD50 interactor 1 NCGC NA
3 0 9 RIT1 6 0 1 6 E N S G 0 0 0 0 0 1 4 3 6 2 2 A D N A Ras like without CAAX 1 PANE L_APP NA
3 1 0 RMRP 6 0 2 3 E N S G 0 0 0 0 0 2 6 9 9 0 0 A R L o F RNA component of mitochondrial RNA processing end oribonuclease P ANEL_ APP,T CGA_P ANCAN _2018 Metaphyseal chondrodysplasia, McKusick type
3 1 1 RNASEL 6 0 4 1 E N S G 0 0 0 0 0 1 3 5 8 2 8 N A N A ribonuclease L PANE L_APP NA
3 1 2 RNF43 5 4 8 9 4 E N S G 0 0 0 0 0 1 0 8 3 7 5 A D N A ring finger protein 43 PANE L_APP NA
3 1 3 ROS1 6 0 9 8 E N S G 0 0 0 0 0 0 4 7 9 3 6 N A N A ROS p roto-oncogene 1, receptor tyrosine kinase OTHER NA
3 1 4 RPL11 6 1 3 5 E N S G 0 0 0 0 0 1 4 2 6 7 6 A D N A ribosomal protein L11 PANE L_APP NA
3 1 5 RPL15 6 1 3 8 E N S G 0 0 0 0 0 1 7 4 7 4 8 A D N A ribosomal protein L15 PANE L_APP NA
3 1 6 RPL23 9 3 4 9 E N S G 0 0 0 0 0 1 2 5 6 9 1 A D N A ribosomal protein L23 PANE L_APP NA
3 1 7 RPL26 6 1 5 4 E N S G 0 0 0 0 0 1 6 1 9 7 0 A D N A ribosomal protein L26 PANE L_APP NA
3 1 8 RPL27 6 1 5 5 E N S G 0 0 0 0 0 1 3 1 4 6 9 A D N A ribosomal protein L27 PANE L_APP NA
3 1 9 RPL31 6 1 6 0 E N S G 0 0 0 0 0 0 7 1 0 8 2 A D N A ribosomal protein L31 PANE L_APP NA
3 2 0 RPL35A 6 1 6 5 E N S G 0 0 0 0 0 1 8 2 8 9 9 A D N A ribosomal protein L35a PANE L_APP NA
3 2 1 RPL36 2 5 8 7 3 E N S G 0 0 0 0 0 1 3 0 2 5 5 A D N A ribosomal protein L36 PANE L_APP NA
3 2 2 RPL5 6 1 2 5 E N S G 0 0 0 0 0 1 2 2 4 0 6 A D N A ribosomal protein L5 PANE L_APP NA
3 2 3 RPS10 6 2 0 4 E N S G 0 0 0 0 0 1 2 4 6 1 4 A D N A ribosomal protein S10 PANE L_APP NA
3 2 4 RPS15 6 2 0 9 E N S G 0 0 0 0 0 1 1 5 2 6 8 A D N A ribosomal protein S15 PANE L_APP NA
3 2 5 RPS17 6 2 1 8 E N S G 0 0 0 0 0 1 8 2 7 7 4 A D N A ribosomal protein S17 PANE L_APP NA
3 2 6 RPS19 6 2 2 3 E N S G 0 0 0 0 0 1 0 5 3 7 2 A D N A ribosomal protein S19 PANE L_APP NA
3 2 7 RPS24 6 2 2 9 E N S G 0 0 0 0 0 1 3 8 3 2 6 A D N A ribosomal protein S24 PANE L_APP NA
3 2 8 RPS26 6 2 3 1 E N S G 0 0 0 0 0 1 9 7 7 2 8 A D N A ribosomal protein S26 PANE L_APP NA
3 2 9 RPS27 6 2 3 2 E N S G 0 0 0 0 0 1 7 7 9 5 4 A D N A ribosomal protein S27 PANE L_APP NA
3 3 0 RPS27A 6 2 3 3 E N S G 0 0 0 0 0 1 4 3 9 4 7 A D N A ribosomal protein S27a PANE L_APP NA
3 3 1 RPS28 6 2 3 4 E N S G 0 0 0 0 0 2 3 3 9 2 7 A D N A ribosomal protein S28 PANE L_APP NA
3 3 2 RPS29 6 2 3 5 E N S G 0 0 0 0 0 2 1 3 7 4 1 A D N A ribosomal protein S29 PANE L_APP NA
3 3 3 RPS7 6 2 0 1 E N S G 0 0 0 0 0 1 7 1 8 6 3 A D N A ribosomal protein S7 PANE L_APP NA
3 3 4 RRAS2 2 2 8 0 0 E N S G 0 0 0 0 0 1 3 3 8 1 8 N A N A RAS related 2 PANE L_APP NA
3 3 5 RTEL1 5 1 7 5 0 E N S G 0 0 0 0 0 2 5 8 3 6 6 A D / A R N A regulator of telomere elongation helicase 1 PANE L_APP NA
3 3 6 RUNX1 8 6 1 N A A D L o F RUNX family transcription factor 1 N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Familial platelet disorder with associated myeloid malignancy
3 3 7 SAMD9 5 4 8 0 9 E N S G 0 0 0 0 0 2 0 5 4 1 3 A D / A R N A sterile alpha motif domain containing 9 PANE L_APP NA
3 3 8 SAMD9L 2 1 9 2 8 5 E N S G 0 0 0 0 0 1 7 7 4 0 9 A D N A sterile alpha motif domain containing 9 like PANE L_APP NA
3 3 9 SASH1 2 3 3 2 8 E N S G 0 0 0 0 0 1 1 1 9 6 1 A D / A R N A SAM and SH3 domain containing 1 PANE L_APP NA
3 4 0 SBDS 5 1 1 1 9 E N S G 0 0 0 0 0 1 2 6 5 2 4 A R L o F SBDS ribosome maturation factor CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Shwachman syndrome
3 4 1 SCG5 6 4 4 7 E N S G 0 0 0 0 0 1 6 6 9 2 2 N A N A secretogranin V NCGC NA
3 4 2 SDHA 6 3 8 9 E N S G 0 0 0 0 0 0 7 3 5 7 8 A D / A R L o F succinate dehydrogenase complex flavoprotein subunit A CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Paragangliomas 5
3 4 3 SDHAF2 5 4 9 4 9 E N S G 0 0 0 0 0 1 6 7 9 8 5 A D / A R L o F succinate dehydrogenase complex assembly factor 2 ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Hereditary Paragangl ioma-Pheochromocytoma Syndromes
3 4 4 SDHB 6 3 9 0 E N S G 0 0 0 0 0 1 1 7 1 1 8 A D / A R L o F succinate dehydrogenase complex iron sulfur subunit B ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Hereditary Paragangl ioma-Pheochromocytoma Syndromes; Carney-Stratakis syndrome
3 4 5 SDHC 6 3 9 1 E N S G 0 0 0 0 0 1 4 3 2 5 2 A D / A R L o F succinate dehydrogenase complex subunit C ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Hereditary Paragangl ioma-Pheochromocytoma Syndromes; Carney-Stratakis syndrome
3 4 6 SDHD 6 3 9 2 E N S G 0 0 0 0 0 2 0 4 3 7 0 A D / A R L o F succinate dehydrogenase complex subunit D ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Hereditary Paragangl ioma-Pheochromocytoma Syndromes; Carney-Stratakis syndrome
3 4 7 SEC23B 1 0 4 8 3 E N S G 0 0 0 0 0 1 0 1 3 1 0 A D N A SEC23 homolog B, COPII coat complex component PANE L_APP NA
3 4 8 SEMA4A 6 4 2 1 8 E N S G 0 0 0 0 0 1 9 6 1 8 9 N A N A semaphorin 4A OTHER NA
3 4 9 SERPINA1 5 2 6 5 E N S G 0 0 0 0 0 1 9 7 2 4 9 A R L o F serpin family A member 1 OT HER,T CGA_P ANCAN _2018 Alpha-1-antitrypsin deficiency
3 5 0 SETBP1 2 6 0 4 0 E N S G 0 0 0 0 0 1 5 2 2 1 7 A D N A SET binding protein 1 CGC _94,T CGA_P ANCAN _2018 Schinzel-Giedion syndrome
3 5 1 SETMAR 6 4 1 9 E N S G 0 0 0 0 0 1 7 0 3 6 4 N A N A SET domain and mariner transposase fusion gene OTHER NA
3 5 2 SFTPA1 6 5 3 5 0 9 E N S G 0 0 0 0 0 1 2 2 8 5 2 N A N A surfactant protein A1 OTHER NA
3 5 3 SFTPA2 7 2 9 2 3 8 E N S G 0 0 0 0 0 1 8 5 3 0 3 N A N A surfactant protein A2 OTHER NA
3 5 4 SH2B3 1 0 0 1 9 E N S G 0 0 0 0 0 1 1 1 2 5 2 A R N A SH2B adaptor protein 3 P ANEL_ APP,T CGA_P ANCAN _2018 NA
3 5 5 SH2D1A 4 0 6 8 E N S G 0 0 0 0 0 1 8 3 9 1 8 N A L o F SH2 domain containing 1A P ANEL_ APP,T CGA_P ANCAN _2018 NA
3 5 6 SHOC2 8 0 3 6 E N S G 0 0 0 0 0 1 0 8 0 6 1 A D N A SHOC2 leucine rich repeat scaffold protein P ANEL_ APP,T CGA_P ANCAN _2018 Noonan syndrome-like disorder with loose anagen hair
3 5 7 SIX1 6 4 9 5 E N S G 0 0 0 0 0 1 2 6 7 7 8 N A N A SIX homeobox 1 OTHER NA
3 5 8 SLC25A13 1 0 1 6 5 E N S G 0 0 0 0 0 0 0 4 8 6 4 A R L o F solute carrier family 25 member 13 T CGA_P ANCAN _2018 NA
3 5 9 SLC26A3 1 8 1 1 E N S G 0 0 0 0 0 0 9 1 1 3 8 N A N A solute carrier family 26 member 3 PANE L_APP NA
3 6 0 SLC5A5 6 5 2 8 E N S G 0 0 0 0 0 1 0 5 6 4 1 A R N A solute carrier family 5 member 5 PANE L_APP NA
3 6 1 SLX4 8 4 4 6 4 E N S G 0 0 0 0 0 1 8 8 8 2 7 A R L o F SLX4 struc ture-specific endonuclease subunit NCGC ,PANE L_APP NA
3 6 2 SMAD4 4 0 8 9 E N S G 0 0 0 0 0 1 4 1 6 4 6 A D / A R L o F SMAD family member 4 ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Hereditary hemorrhagic telangiectasia; Juvenile polyposis syndrome
3 6 3 SMAD9 4 0 9 3 E N S G 0 0 0 0 0 1 2 0 6 9 3 A D N A SMAD family member 9 PANE L_APP NA
3 6 4 SMARCA2 6 5 9 5 E N S G 0 0 0 0 0 0 8 0 5 0 3 A R N A SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 OTHER NA
3 6 5 SMARCA4 6 5 9 7 E N S G 0 0 0 0 0 1 2 7 6 1 6 A D / A R L o F SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Rhabdoid tumor predisposition syndrome 2
3 6 6 SMARCB1 6 5 9 8 E N S G 0 0 0 0 0 0 9 9 9 5 6 A D / A R L o F SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Rhabdoid tumor predisposition syndrome 1
3 6 7 SMARCE1 6 6 0 5 E N S G 0 0 0 0 0 0 7 3 5 8 4 A D / A R L o F SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Hereditary Meningioma
3 6 8 SMO 6 6 0 8 E N S G 0 0 0 0 0 1 2 8 6 0 2 N A N A smoothened, frizzled class receptor OTHER NA
3 6 9 SOCS1 8 6 5 1 E N S G 0 0 0 0 0 1 8 5 3 3 8 N A N A suppressor of cytokine signaling 1 OTHER NA
3 7 0 SOS1 6 6 5 4 E N S G 0 0 0 0 0 1 1 5 9 0 4 A D G o F SOS Ras/Rac guanine nucleotide exchange factor 1 P ANEL_ APP,T CGA_P ANCAN _2018 Noonan syndrome
3 7 1 SOS2 6 6 5 5 E N S G 0 0 0 0 0 1 0 0 4 8 5 A D N A SOS Ras/Rho guanine nucleotide exchange factor 2 PANE L_APP NA
3 7 2 SPINK1 6 6 9 0 E N S G 0 0 0 0 0 1 6 4 2 6 6 N A N A serine peptidase inhibitor Kazal type 1 NCGC NA
3 7 3 SPOP 8 4 0 5 E N S G 0 0 0 0 0 1 2 1 0 6 7 A R N A speckle type BTB/POZ protein C GC_94 ,PANE L_APP NA
3 7 4 SPRED1 1 6 1 7 4 2 E N S G 0 0 0 0 0 1 6 6 0 6 8 A D N A sprouty related EVH1 domain containing 1 NCGC ,PANE L_APP NA
3 7 5 SPRTN 8 3 9 3 2 E N S G 0 0 0 0 0 0 1 0 0 7 2 A R N A SprT-like N-terminal domain T CGA_P ANCAN _2018 Ruijs-Aalfs syndrome
3 7 6 SQSTM1 8 8 7 8 E N S G 0 0 0 0 0 1 6 1 0 1 1 A D N A sequestosome 1 PANE L_APP NA
3 7 7 SRC 6 7 1 4 E N S G 0 0 0 0 0 1 9 7 1 2 2 N A N A SRC pr oto-oncogene, non-receptor tyrosine kinase PANE L_APP NA
3 7 8 SRGAP1 5 7 5 2 2 E N S G 0 0 0 0 0 1 9 6 9 3 5 A D N A SLIT-ROBO Rho GTPase activating protein 1 PANE L_APP NA
3 7 9 SRP72 6 7 3 1 E N S G 0 0 0 0 0 1 7 4 7 8 0 A D N A signal recognition particle 72 PANE L_APP NA
3 8 0 SRRM2 2 3 5 2 4 E N S G 0 0 0 0 0 1 6 7 9 7 8 A D N A se rine/arginine repetitive matrix 2 PANE L_APP NA
3 8 1 SRY 6 7 3 6 E N S G 0 0 0 0 0 1 8 4 8 9 5 N A N A sex determining region Y T CGA_P ANCAN _2018 Gonadoblastoma
3 8 2 STAT3 6 7 7 4 E N S G 0 0 0 0 0 1 6 8 6 1 0 A D L o F signal transducer and activator of transcription 3 CGC _94,P ANEL_ APP,T CGA_P ANCAN _2018 STAT3 Deficiency
3 8 3 STK11 6 7 9 4 E N S G 0 0 0 0 0 1 1 8 0 4 6 A D / A R L o F ser ine/threonine kinase 11 ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Peutz-Jeghers syndrome
3 8 4 STN1 7 9 9 9 1 E N S G 0 0 0 0 0 1 0 7 9 6 0 A D N A STN1 subunit of CST complex PANE L_APP NA
3 8 5 STX11 8 6 7 6 E N S G 0 0 0 0 0 1 3 5 6 0 4 A R N A syntaxin 11 PANE L_APP NA
3 8 6 STXBP2 6 8 1 3 E N S G 0 0 0 0 0 0 7 6 9 4 4 A R N A syntaxin binding protein 2 PANE L_APP NA
3 8 7 SUFU 5 1 6 8 4 E N S G 0 0 0 0 0 1 0 7 8 8 2 A D / A R L o F SUFU negative regulator of hedgehog signaling CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Medulloblastoma; Hereditary Meningioma
3 8 8 SYK 6 8 5 0 E N S G 0 0 0 0 0 1 6 5 0 2 5 N A N A spleen associated tyrosine kinase OTHER NA
3 8 9 TBXT 6 8 6 2 E N S G 0 0 0 0 0 1 6 4 4 5 8 A D N A T-box transcription factor T PANE L_APP NA
3 9 0 TCF7L2 6 9 3 4 E N S G 0 0 0 0 0 1 4 8 7 3 7 N A N A transcription factor 7 like 2 OTHER NA
3 9 1 TERC 7 0 1 2 E N S G 0 0 0 0 0 2 7 7 9 2 5 A D N A telomerase RNA component PANE L_APP NA
3 9 2 TERF2IP 5 4 3 8 6 N A N A N A TERF2 interacting protein NCGC ,PANE L_APP NA
3 9 3 TERT 7 0 1 5 E N S G 0 0 0 0 0 1 6 4 3 6 2 A D / A R L o F telomerase reverse transcriptase CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Autosomal dominant dyskeratosis congenita
3 9 4 TET2 5 4 7 9 0 E N S G 0 0 0 0 0 1 6 8 7 6 9 N A N A tet m ethylcytosine dioxygenase 2 OTHER NA
3 9 5 TFAP2A 7 0 2 0 E N S G 0 0 0 0 0 1 3 7 2 0 3 A D N A transcription factor AP-2 alpha OTHER NA
3 9 6 TFE3 7 0 3 0 E N S G 0 0 0 0 0 0 6 8 3 2 3 N A N A transcription factor binding to IGHM enhancer 3 OTHER NA
3 9 7 TG 7 0 3 8 E N S G 0 0 0 0 0 0 4 2 8 3 2 A R N A thyroglobulin PANE L_APP NA
3 9 8 TGFBR1 7 0 4 6 E N S G 0 0 0 0 0 1 0 6 7 9 9 A D L o F transforming growth factor beta receptor 1 A CMG_S F30,T CGA_P ANCAN _2018 Multiple self-healing squamous epithelioma; Loeys-Dietz syndrome
3 9 9 TGFBR2 7 0 4 8 E N S G 0 0 0 0 0 1 6 3 5 1 3 A R L o F transforming growth factor beta receptor 2 A CMG_S F30,C GC_94 Loeys-Dietz syndrome
4 0 0 TINF2 2 6 2 7 7 E N S G 0 0 0 0 0 0 9 2 3 3 0 A D N A TERF1 interacting nuclear factor 2 PANE L_APP NA
4 0 1 TMC6 1 1 3 2 2 E N S G 0 0 0 0 0 1 4 1 5 2 4 A R N A transmembrane channel like 6 PANE L_APP NA
4 0 2 TMC8 1 4 7 1 3 8 E N S G 0 0 0 0 0 1 6 7 8 9 5 A R N A transmembrane channel like 8 PANE L_APP NA
4 0 3 TMEM127 5 5 6 5 4 E N S G 0 0 0 0 0 1 3 5 9 5 6 A D / A R L o F transmembrane protein 127 ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Pheochromocytoma; Hereditary Paragangl ioma-Pheochromocytoma Syndromes
4 0 4 TNFAIP3 7 1 2 8 E N S G 0 0 0 0 0 1 1 8 5 0 3 N A N A TNF alpha induced protein 3 OTHER NA
4 0 5 TNFRSF11A 8 7 9 2 E N S G 0 0 0 0 0 1 4 1 6 5 5 A D N A TNF receptor superfamily member 11a PANE L_APP NA
4 0 6 TP53 7 1 5 7 E N S G 0 0 0 0 0 1 4 1 5 1 0 A D / A R L o F tumor protein p53 ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 NA; Li-Fraumeni syndrome 1
4 0 7 TP63 8 6 2 6 E N S G 0 0 0 0 0 0 7 3 2 8 2 N A N A tumor protein p63 C GC_94 NA
4 0 8 TRIM24 8 8 0 5 E N S G 0 0 0 0 0 1 2 2 7 7 9 N A N A tripartite motif containing 24 OTHER NA
4 0 9 TRIM28 1 0 1 5 5 E N S G 0 0 0 0 0 1 3 0 7 2 6 A D N A tripartite motif containing 28 PANE L_APP NA
4 1 0 TRIM37 4 5 9 1 E N S G 0 0 0 0 0 1 0 8 3 9 5 A R L o F tripartite motif containing 37 P ANEL_ APP,T CGA_P ANCAN _2018 NA
4 1 1 TRIP13 9 3 1 9 E N S G 0 0 0 0 0 0 7 1 5 3 9 A R N A thyroid hormone receptor interactor 13 PANE L_APP NA
4 1 2 TSC1 7 2 4 8 E N S G 0 0 0 0 0 1 6 5 6 9 9 A D / A R L o F TSC complex subunit 1 ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Tuberous sclerosis syndrome; Tuberous sclerosis 1
4 1 3 TSC2 7 2 4 9 E N S G 0 0 0 0 0 1 0 3 1 9 7 A D / A R L o F TSC complex subunit 2 ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Tuberous sclerosis syndrome; Tuberous sclerosis 2
4 1 4 TSHR 7 2 5 3 E N S G 0 0 0 0 0 1 6 5 4 0 9 A D N A thyroid stimulating hormone receptor CGC _94,T CGA_P ANCAN _2018 Hyperthyroidism, nonautoimmune
4 1 5 TSR2 9 0 1 2 1 E N S G 0 0 0 0 0 1 5 8 5 2 6 N A N A TSR2 ribosome maturation factor PANE L_APP NA
4 1 6 TYK2 7 2 9 7 E N S G 0 0 0 0 0 1 0 5 3 9 7 A R N A tyrosine kinase 2 OTHER NA
4 1 7 UBE2T 2 9 0 8 9 E N S G 0 0 0 0 0 0 7 7 1 5 2 A R N A ubiquitin conjugating enzyme E2 T PANE L_APP NA
4 1 8 UNC13D 2 0 1 2 9 4 E N S G 0 0 0 0 0 0 9 2 9 2 9 A D / A R N A unc-13 homolog D PANE L_APP NA
4 1 9 UROD 7 3 8 9 E N S G 0 0 0 0 0 1 2 6 0 8 8 A D / A R L o F uro porphyrinogen decarboxylase T CGA_P ANCAN _2018 Familial porphyria cutanea tarda
4 2 0 VANGL1 8 1 8 3 9 E N S G 0 0 0 0 0 1 7 3 2 1 8 N A N A VANGL planar cell polarity protein 1 OTHER NA
4 2 1 VDR 7 4 2 1 E N S G 0 0 0 0 0 1 1 1 4 2 4 A D / A R N A vitamin D receptor PANE L_APP NA
4 2 2 VHL 7 4 2 8 E N S G 0 0 0 0 0 1 3 4 0 8 6 A D / A R L o F von Hippel-Lindau tumor suppressor ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Von Hippel-Lindau syndrome
4 2 3 VTRNA2-1 1 0 0 1 2 6 2 9 9 E N S G 0 0 0 0 0 2 7 8 8 1 5 N A N A vault RNA 2-1 PANE L_APP NA
4 2 4 WAS 7 4 5 4 E N S G 0 0 0 0 0 0 1 5 2 8 5 N A L o F WASP actin nucleation promoting factor CGC _94,P ANEL_ APP,T CGA_P ANCAN _2018 Thrombocytopenia 1
4 2 5 WIF1 1 1 1 9 7 E N S G 0 0 0 0 0 1 5 6 0 7 6 N A N A WNT inhibitory factor 1 OTHER NA
4 2 6 WRAP53 5 5 1 3 5 E N S G 0 0 0 0 0 1 4 1 4 9 9 A R N A WD repeat containing antisense to TP53 PANE L_APP NA
4 2 7 WRN 7 4 8 6 E N S G 0 0 0 0 0 1 6 5 3 9 2 A R L o F WRN RecQ like helicase CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Werner syndrome
4 2 8 WT1 7 4 9 0 E N S G 0 0 0 0 0 1 8 4 9 3 7 A D / A R L o F WT1 transcription factor ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Wilms tumor 1
4 2 9 XPA 7 5 0 7 E N S G 0 0 0 0 0 1 3 6 9 3 6 A R L o F XPA, DNA damage recognition and repair factor CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Xeroderma pigmentosum group A
4 3 0 XPC 7 5 0 8 E N S G 0 0 0 0 0 1 5 4 7 6 7 A R L o F XPC complex subunit, DNA damage recognition and repair factor CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 Xeroderma pigmentosum, group C
4 3 1 XRCC2 7 5 1 6 E N S G 0 0 0 0 0 1 9 6 5 8 4 A R L o F X-ray repair cross complementing 2 NCGC ,PANE L_APP NA
4 3 2 XRCC3 7 5 1 7 E N S G 0 0 0 0 0 1 2 6 2 1 5 A D N A X-ray repair cross complementing 3 OTHER NA
4 3 3 ZBTB16 7 7 0 4 E N S G 0 0 0 0 0 1 0 9 9 0 6 N A N A zinc finger and BTB domain containing 16 OTHER NA