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+ Genes 244

Genes:
ACVR1, ADAM8, ADCK3, ADCY10, ADRBK1, AGAP3, AGO2, AKR1B10, AKR1C1, AKR1C2, ALAD, ALDH4A1, AMPD1, ANKRD36, APC, AQP2, ARSB, ARSD, ASB10, ATP6V1B1, B3GNT6, BACH2, BARD1, BCAT1, C1GALT1, C2orf83, C5orf20, C9orf89, CA8, CAD, CAMK2B, CARF, CCHCR1, CD180, CD200R1L, CDCP2, CELA1, CEP170, CFTR, CHI3L1, CHI3L2, CHIA, CLDN16, CLECL1, COL26A1, CPOX, CREB3L1, CRYZ, CSF1R, CYP21A2, CYP2R1, CYTH3, DNAH11, DPYSL2, DSP, DUSP12, DUSP5, ECHDC3, EGFR, ENPP4, EPHA2, EPHB1, EPHB3, ERAP1, ERAP2, ERCC6L2, EXO1, FAM151A, FAM86B1, FCGR2A, FDFT1, FGFR2, FMO2, FOLH1, FRG1, FRG2B, FSCN1, GALM, GAPDH, GEN1, GMPR, GPATCH4, GPRC6A, GSTA1, H2BFM, HAAO, HBB, HEBP2, HK2, HLA-A, HLA-B, HLA-C, HLA-DQA1, HLA-DQB1, HLA-DRB1, HLA-DRB5, HMGCS1, HMGCS2, HRNR, HSPA6, HYAL4, IFNA10, INMT, INPP5E, JAK1, JMJD1C, KDM2A, KIAA1919, KLHL3, KLHL35, KMT2C, KRAS, LAPTM4B, LCN15, LEPREL2, LGALS8, LGR5, LRIG1, LRP6, LRRC4, LRRIQ1, MADD, MAML3, MAP3K8, MAPKAP1, MAT1A, MB21D1, MDK, MICA, MINA, MOB3C, MTAP, MUC20, MUC22, MUC4, MUC6, MUS81, NCF2, NET1, NOP16, NPPA, NPSR1, NUDT11, NXF1, OAT, OR10J1, OR1B1, OR1J1, OR2B11, OR2L8, OR2T35, OR2T4, OR4C16, OR4C3, OR4X1, OR4X2, OR51F1, OR51I2, OR52B4, OR52E8, OR52L1, OR5AR1, OR5K3, OR5K4, OR5M1, OR6Q1, OR8K1, OR8K3, OR8U1, PABPC1, PADI2, PADI4, PCSK9, PDCD6, PDE10A, PDE4B, PEBP4, PFKP, PGR, PIR, PLCB3, PLK2, PNLIPRP3, PNPT1, POLR2D, PPIC, PPIL1, PRMT6, PRSS1, PRSS3, PRSS48, PSAT1, PSORS1C1, PTCHD3, PTPN6, PVRIG, RBBP4, RBMX, RETNLB, REV1, RHOU, RIPK1, RNASEH2C, RNF8, ROS1, RRM1, SHARPIN, SIRT5, SLC22A10, SLC5A9, SND1, SORL1, SPATA4, SRA1, STK10, STK17B, SYK, TAAR2, TAS2R19, TAS2R31, TAS2R43, TAS2R46, TBP, TCEAL6, TGOLN2, THEM5, TIGD6, TLR10, TLR3, TMEM120A, TNFSF10, TOPBP1, TP73, TPH2, TRDMT1, TSGA10IP, TTC4, UBXN11, VWF, WAPAL, XDH, XYLB, ZNF117, ZNF141,

+ Genes associated with diseases 69

Genes at Omim

ACVR1, ADCK3, ADCY10, AKR1C2, ALAD, ALDH4A1, AMPD1, APC, AQP2, ARSB, ASB10, BARD1, BCAT1, CA8, CAD, CAMK2B, CFTR, CHI3L1, CLDN16, CPOX, CREB3L1, CSF1R, CYP21A2, CYP2R1, DNAH11, DSP, EGFR, EPHA2, ERCC6L2, FCGR2A, FDFT1, FGFR2, HAAO, HBB, HLA-A, HLA-B, HLA-C, HLA-DQA1, HLA-DQB1, HLA-DRB1, HMGCS2, INPP5E, KLHL3, KMT2C, KRAS, LRP6, MAP3K8, MAT1A, MTAP, NCF2, NPPA, NPSR1, OAT, PADI4, PCSK9, PDE10A, PGR, PNPT1, PRSS1, PSAT1, RBMX, RIPK1, RNASEH2C, TBP, TLR3, TPH2, VWF, XDH, ZNF141,
ACVR1 Fibrodysplasia ossificans progressiva, 135100 (3)
ADCK3 Coenzyme Q10 deficiency, primary, 4, 612016 (3)
ADCY10 {Hypercalciuria, absorptive, susceptibility to}, 143870 (3)
AKR1C2 46XY sex reversal 8, 614279 (3)
ALAD {Lead poisoning, susceptibility to}, 612740 (3)
Porphyria, acute hepatic, 612740 (3)
ALDH4A1 Hyperprolinemia, type II, 239510 (3)
AMPD1 Myopathy due to myoadenylate deaminase deficiency, 615511 (3)
APC Adenoma, periampullary, somatic (3)
Adenomatous polyposis coli, 175100 (3)
Gardner syndrome, 175100 (3)
Gastric cancer, somatic, 613659 (3)
Brain tumor-polyposis syndrome 2, 175100 (3)
Hepatoblastoma, somatic, 114550 (3)
Colorectal cancer, somatic, 114500 (3)
Desmoid disease, hereditary, 135290 (3)
AQP2 Diabetes insipidus, nephrogenic, 125800 (3)
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)
ASB10 Glaucoma 1, open angle, F, 603383 (3)
BARD1 {Breast cancer, susceptibility to}, 114480 (3)
BCAT1 ?Hyperleucinemia-isoleucinemia or hypervalinemia (1)
CA8 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 (3)
CAD Epileptic encephalopathy, early infantile, 50, 616457 (3)
CAMK2B Mental retardation, autosomal dominant 54, 617799 (3)
CFTR {Hypertrypsinemia, neonatal} (3)
Congenital bilateral absence of vas deferens, 277180 (3)
Cystic fibrosis, 219700 (3)
{Pancreatitis, hereditary}, 167800 (3)
Sweat chloride elevation without CF (3)
{Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)
CHI3L1 {Schizophrenia, susceptibility to}, 181500 (3)
{Asthma-related traits, susceptibility to, 7}, 611960 (3)
CLDN16 Hypomagnesemia 3, renal, 248250 (3)
CPOX Harderoporphyria, 121300 (3)
Coproporphyria, 121300 (3)
CREB3L1 Osteogenesis imperfecta, type XVI, 616229 (3)
CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3)
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3)
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)
CYP2R1 Rickets due to defect in vitamin D 25-hydroxylation, 600081 (3)
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
DSP Arrhythmogenic right ventricular dysplasia 8, 607450 (3)
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)
Epidermolysis bullosa, lethal acantholytic, 609638 (3)
Keratosis palmoplantaris striata II, 612908 (3)
Skin fragility-woolly hair syndrome, 607655 (3)
EGFR Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3)
{Nonsmall cell lung cancer, susceptibility to}, 211980 (3)
?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3)
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)
EPHA2 Cataract 6, multiple types, 116600 (3)
ERCC6L2 Bone marrow failure syndrome 2, 615715 (3)
FCGR2A {Lupus nephritis, susceptibility to}, 152700 (3)
{Malaria, severe, susceptibility to}, 611162 (3)
{Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3)
FDFT1 Squalene synthase deficiency, 618156 (3)
FGFR2 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3)
Apert syndrome, 101200 (3)
Gastric cancer, somatic, 613659 (3)
Beare-Stevenson cutis gyrata syndrome, 123790 (3)
Bent bone dysplasia syndrome, 614592 (3)
Craniofacial-skeletal-dermatologic dysplasia, 101600 (3)
Craniosynostosis, nonspecific (3)
Crouzon syndrome, 123500 (3)
Jackson-Weiss syndrome, 123150 (3)
LADD syndrome, 149730 (3)
Pfeiffer syndrome, 101600 (3)
Saethre-Chotzen syndrome, 101400 (3)
Scaphocephaly and Axenfeld-Rieger anomaly (3)
Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3)
HAAO Vertebral, cardiac, renal, and limb defects syndrome 1, 617660 (3)
HBB Heinz body anemia, 140700 (3)
Hereditary persistence of fetal hemoglobin, 141749 (3)
{Malaria, resistance to}, 611162 (3)
Delta-beta thalassemia, 141749 (3)
Erythrocytosis 6, 617980 (3)
Methmoglobinemia, beta type, 617971 (3)
Sickle cell anemia, 603903 (3)
Thalassemia, beta, 613985 (3)
Thalassemia-beta, dominant inclusion-body, 603902 (3)
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B {Spondyloarthropathy, susceptibility to, 1}, 106300 (3)
{Stevens-Johnson syndrome, susceptibility to}, 608579 (3)
{Synovitis, chronic, susceptibility to} (3)
{Toxic epidermal necrolysis, susceptibility to}, 608579 (3)
{Abacavir hypersensitivity, susceptibility to} (3)
{Drug-induced liver injury due to flucloxacillin} (3)
HLA-C {HIV-1 viremia, susceptibility to}, 609423 (3)
{Psoriasis susceptibility 1}, 177900 (3)
HLA-DQA1 {Celiac disease, susceptibility to}, 212750 (3)
HLA-DQB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Celiac disease, susceptibility to}, 212750 (3)
{Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
HMGCS2 HMG-CoA synthase-2 deficiency, 605911 (3)
INPP5E Joubert syndrome 1, 213300 (3)
Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)
KLHL3 Pseudohypoaldosteronism, type IID, 614495 (3)
KMT2C Kleefstra syndrome 2, 617768 (3)
KRAS Arteriovenous malformation of the brain, somatic, 108010 (3)
Gastric cancer, somatic, 137215 (3)
Bladder cancer, somatic, 109800 (3)
Breast cancer, somatic, 114480 (3)
Cardiofaciocutaneous syndrome 2, 615278 (3)
Leukemia, acute myeloid, 601626 (3)
Lung cancer, somatic, 211980 (3)
Noonan syndrome 3, 609942 (3)
Pancreatic carcinoma, somatic, 260350 (3)
RAS-associated autoimmune leukoproliferative disorder, 614470 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
LRP6 Tooth agenesis, selective, 7, 616724 (3)
{Coronary artery disease, autosomal dominant, 2}, 610947 (3)
MAP3K8 Lung cancer, somatic, 211980 (3)
MAT1A Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3)
Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3)
NCF2 Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)
NPPA Atrial fibrillation, familial, 6, 612201 (3)
Atrial standstill 2, 615745 (3)
NPSR1 {Asthma, susceptibility to, 2}, 608584 (3)
OAT Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3)
PADI4 {Rheumatoid arthritis, susceptibility to}, 180300 (3)
PCSK9 {Low density lipoprotein cholesterol level QTL 1}, 603776 (3)
Hypercholesterolemia, familial, 3, 603776 (3)
PDE10A Dyskinesia, limb and orofacial, infantile-onset, 616921 (3)
Striatal degeneration, autosomal dominant, 616922 (3)
PGR ?Progesterone resistance, 264080 (2)
PNPT1 Combined oxidative phosphorylation deficiency 13, 614932 (3)
Deafness, autosomal recessive 70, 614934 (3)
PRSS1 Pancreatitis, hereditary, 167800 (3)
Trypsinogen deficiency, 614044 (1)
PSAT1 Neu-Laxova syndrome 2, 616038 (3)
?Phosphoserine aminotransferase deficiency, 610992 (3)
RBMX ?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3)
RIPK1 Immunodeficiency 57, 618108 (3)
RNASEH2C Aicardi-Goutieres syndrome 3, 610329 (3)
TBP {Parkinson disease, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 17, 607136 (3)
TLR3 {HIV1 infection, resistance to}, 609423 (3)
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 (3)
TPH2 {Unipolar depression, susceptibility to}, 608516 (3)
{Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3)
VWF von Willebrand disease, type 1, 193400 (3)
von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)
von Willibrand disease, type 3, 277480 (3)
XDH Xanthinuria, type I, 278300 (3)
ZNF141 ?Polydactyly, postaxial, type A6, 615226 (3)

Genes at Clinical Genomics Database

ACVR1, ADCK3, AKR1C2, ALAD, ALDH4A1, AMPD1, APC, AQP2, ARSB, ATP6V1B1, BARD1, CA8, CAD, CFTR, CLDN16, CPOX, CREB3L1, CSF1R, CYP21A2, CYP2R1, DNAH11, DSP, EGFR, EPHA2, ERCC6L2, FGFR2, HBB, HLA-A, HLA-B, HMGCS2, INPP5E, KLHL3, KRAS, LRP6, MAT1A, MTAP, NCF2, NPPA, OAT, PCSK9, PDE10A, PNPT1, PRSS1, PSAT1, RBMX, RNASEH2C, TBP, TLR3, VWF, XDH, ZNF141,
ACVR1 Fibrodysplasia ossificans progressiva
ADCK3 Coenzyme Q10 deficiency
Progressive cerebellar ataxia and atrophy
Spinocerebellar ataxia 9
AKR1C2 46,XY sex reversal 8
ALAD Porphyria, acute hepatic
ALDH4A1 Hyperprolinemia, type II
AMPD1 Myoadenylate deaminase deficiency
APC Familial adenomatous polyposis
Gardner syndrome
Desmoid disease, hereditary
AQP2 Diabetes insipidus, nephrogenic, autosomal
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy)
ATP6V1B1 Renal tubular acidosis with deafness
BARD1 Breast cancer, susceptibility to
CA8 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
CAD Congenital disorder of glycosylation, type Iz
CFTR Cystic fibrosis
CLDN16 Hypomagnesemia 3, renal
CPOX Coproporphyria
Harderoporphyria
CREB3L1 Osteogenesis imperfecta, type XVI
CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
CYP2R1 Vitamin D hydroxylation deficient rickets, type 1B
DNAH11 Ciliary dyskinesia, primary, 7
DSP Arrhythmogenic right ventricular dysplasia, familial 8
Cardiomyopathy, dilated, with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
EGFR Acute myeloid leukemia, familial
Lung cancer, familial, susceptibilty to
Inflammatory skin and bowel disease, neonatal, 2
EPHA2 Cataract 6, multiple types
ERCC6L2 Bone marrow failure syndrome 2
FGFR2 Lacrimoauriculodentodigital syndrome
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Sraniofacial-skeletal-dermatological dysplasia
Crouzon syndrome
Jackson-Weiss syndrome
Pfeiffer syndrome
Apert syndrome
Beare-Stevenson cutis gyrata syndrome
HBB Beta-thalassemia
Sickle cell disease
Thalassemia-beta, dominant inclusion body
Other Thalassemias/Hemoglobinopathies
HLA-A Drug-induced toxicity, susceptibility to
HLA-B Drug-induced toxicity, susceptibility to
HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency
INPP5E Joubert syndrome 1
Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)
KLHL3 Pseudohypoaldosteronism, type IID
KRAS Noonan syndrome
Cardiofaciocutaneous syndrome
LRP6 Coronary artery disease, autosomal dominant 2
MAT1A Methionine adenosyltransferase deficiency
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma
NCF2 Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type II
NPPA Atrial fibrillation, familial, 6
Atrial standstill 2
OAT Gyrate atrophy of choroid and retina
PCSK9 Hypercholesterolemia, familial, 3
PDE10A Striatal degeneration, autosomal dominant 2
Infantile-onset dyskinesia
PNPT1 Deafness, autosomal recessive 70
PRSS1 Pancreatitis, hereditary
PSAT1 Phosphoserine aminotransferase deficiency
RBMX Mental retardation, X-linked, syndromic 11, Shashi type
RNASEH2C Aicardi-Goutieres syndrome 3
TBP Spinocerebellar ataxia 17
TLR3 Herpes simplex encephalitis, susceptibility to, 2
VWF von Willebrand disease, type 1
von Willebrand disease, type 2A
von Willebrand disease, type 3
XDH Xanthinuria, type I
ZNF141 Postaxial polydactyly type A, autosomal recessive

Genes at HGMD

Summary

Number of Variants: 346
Number of Genes: 244

Export to: CSV

ACVR1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 2 rs1146031
dbSNP Clinvar 		158626980 13122.7 C T PASS 1/1 147 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.91394 0.91390 0.08850 None None None None None None ACVR1|0.908763541|3.27%

ADAM8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 10 rs1131720
dbSNP Clinvar 		135085321 11580.7 C T PASS 1/1 135 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.84665 0.84660 0.15147 None None None None None None ADAM8|0.004556093|86.35%

ADCK3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 1 rs12593
dbSNP Clinvar 		227172290 6929.92 C T PASS 0/1 330 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.23862 0.23860 0.37367 None None None None None None ADCK3|0.102470418|50.69%
View gordonsepilepsy filtered 2487_pool 1 rs3738725
dbSNP Clinvar 		227174210 9425.92 T C PASS 0/1 366 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.31390 0.31390 0.44218 None None None None None None ADCK3|0.102470418|50.69%

ADCY10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 1 rs203849
dbSNP Clinvar 		167849414 3469.5 A G PASS 1/1 57 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.49321 0.49320 0.46570 None None None None None None ADCY10|0.02878338|70.03%

ADRBK1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 11 rs2228418
dbSNP Clinvar 		67034266 1671.84 C A PASS 1/1 38 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.64876 0.64880 0.25747 None None None None None None ADRBK1|0.645969984|10.23%

AGAP3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 7 rs766984834
dbSNP Clinvar 		150783922 2302.68 T TGGGG LowDepth 1/1 31 FRAME_SHIFT HIGH None None None None None None None AGAP3|0.094196358|52.32%
View gordonsepilepsy filtered 2487_pool 7 rs539642617
dbSNP Clinvar 		150783900 327.06 C CG LowDepth 1/1 2 FRAME_SHIFT HIGH None 0.99880 0.99880 0.03750 None None None None None None AGAP3|0.094196358|52.32%
View gordonsepilepsy filtered 2487_pool 7 rs552859803
dbSNP Clinvar 		150783908 1144.68 C CG PASS 1/1 13 FRAME_SHIFT HIGH None 0.99880 0.99880 None None None None None None AGAP3|0.094196358|52.32%

AGO2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 8 rs2292781
dbSNP Clinvar 		141559358 3923.96 G A PASS 0/1 168 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.47244 0.47240 0.39734 None None None None None None AGO2|0.736134544|7.47%

AKR1B10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 7 rs28545160
dbSNP Clinvar 		134221826 2524.92 A G PASS 0/1 143 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None -1.27 0.00 0.05289 T None None None None AKR1B10|0.014962544|77.15%

AKR1C1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 10 rs1138600
dbSNP Clinvar 		5010572 5508.68 A G PASS 1/1 67 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99720 0.99720 None None None None None None AKR1C1|0.0017482|91.68%

AKR1C2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 10 rs3207909
dbSNP Clinvar 		5041398 4162.72 T C PASS 0/1 122 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None AKR1C2|0.002182475|90.47%

ALAD
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 9 rs1139488
dbSNP Clinvar 		116153900 8737.54 A G PASS 0/1 258 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.35224 0.35220 0.35422 None None None None None None ALAD|0.24202063|32.28%

ALDH4A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 1 rs2230708
dbSNP Clinvar 		19201956 12917.7 A G PASS 1/1 167 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.73722 0.73720 0.29779 None None None None None None ALDH4A1|0.121498662|47.22%
View gordonsepilepsy filtered 2487_pool 1 rs2230705
dbSNP Clinvar 		19203997 5163.71 C G PASS 1/1 52 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.64157 0.64160 0.28846 None None None None None None ALDH4A1|0.121498662|47.22%
View gordonsepilepsy filtered 2487_pool 1 rs7550938
dbSNP Clinvar 		19202917 5976.69 T C PASS 1/1 49 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.66094 0.66090 0.37698 None None None None None None ALDH4A1|0.121498662|47.22%

AMPD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 1 rs17602729
dbSNP Clinvar 		115236057 3907.5 G A PASS 0/1 95 STOP_GAINED+SPLICE_SITE_REGION HIGH None 0.03814 0.03814 0.09459 None None None None None None AMPD1|0.217023192|34.75%

ANKRD36
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 2 . 97851077 3876.72 C G PASS 0/1 142 STOP_GAINED HIGH None None None None None None None ANKRD36|0.001192347|94.46%
View gordonsepilepsy filtered 2487_pool 2 rs772505240
dbSNP Clinvar 		97818264 3165.72 G GTT PASS 0/1 119 FRAME_SHIFT HIGH None None None None None None None ANKRD36|0.001192347|94.46%
View gordonsepilepsy filtered 2487_pool 2 rs746371426
dbSNP Clinvar 		97818260 3289.72 GGC G PASS 0/1 122 FRAME_SHIFT HIGH None None None None None None None ANKRD36|0.001192347|94.46%
View gordonsepilepsy filtered 2487_pool 2 . 97851078 3870.72 A AG PASS 0/1 143 FRAME_SHIFT HIGH None None None None None None None ANKRD36|0.001192347|94.46%
View gordonsepilepsy filtered 2487_pool 2 . 97851073 3843.72 GC G PASS 0/1 137 FRAME_SHIFT HIGH None None None None None None None ANKRD36|0.001192347|94.46%

APC
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 5 rs41115
dbSNP Clinvar 		112175770 15442.9 G A PASS 0/1 295 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH None 0.66554 0.66550 0.41378 None None None None None None APC|0.952088564|2.19%
View gordonsepilepsy filtered 2487_pool 5 rs2229992
dbSNP Clinvar 		112162854 6624.92 T C PASS 0/1 147 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.50998 0.51000 0.46217 None None None None None None APC|0.952088564|2.19%

AQP2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 12 rs426496
dbSNP Clinvar 		50348078 12061.8 T C PASS 1/1 150 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.66713 0.66710 0.30671 None None None None None None AQP2|0.155383896|42.24%

ARSB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 5 rs1071598
dbSNP Clinvar 		78181423 2922.17 C T PASS 0/1 178 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.10863 0.10860 0.13701 0.19 0.28 None None None None None None ARSB|0.08485524|54.24%

ARSD
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool X rs111939179
dbSNP Clinvar 		2833605 2887.5 C T PASS 0/1 140 STOP_GAINED HIGH None None None None None None None ARSD|0.001611053|92.29%

ASB10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 7 rs34383739,rs552723672
dbSNP Clinvar 		150884266 6809.17 C CAG PASS 0/1 246 FRAME_SHIFT HIGH None 0.19569 0.19570 None None None None None None ASB10|0.051312988|62.24%

ATP6V1B1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 2 rs11681642
dbSNP Clinvar 		71163086 4150.92 T C PASS 0/1 178 START_LOST HIGH None 0.36881 0.36880 0.41504 0.00 0.60 None None None None None None ATP6V1B1|0.123167959|46.96%

B3GNT6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 11 rs11292198,rs796338514
dbSNP Clinvar 		76751541 13360.7 CT C PASS 1/1 173 FRAME_SHIFT HIGH None 1.00000 1.00000 None None None None None None B3GNT6|0.006722766|83.81%
View gordonsepilepsy filtered 2487_pool 11 rs11292200,rs796140348
dbSNP Clinvar 		76751603 16800.7 CT C PASS 1/1 201 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00025 None None None None None None B3GNT6|0.006722766|83.81%
View gordonsepilepsy filtered 2487_pool 11 rs11292199
dbSNP Clinvar 		76751584 20307.7 CT C PASS 1/1 204 FRAME_SHIFT HIGH None 1.00000 1.00000 None None None None None None B3GNT6|0.006722766|83.81%

BACH2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 6 rs2236181
dbSNP Clinvar 		90661576 6163.5 T C PASS 0/1 191 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.49082 0.49080 0.39198 None None None None None None BACH2|0.725202882|7.84%

BARD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 2 rs2070093
dbSNP Clinvar 		215632256 12088.7 A G PASS 1/1 160 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.77057 0.77060 0.28618 None None None None None None BARD1|0.230178617|33.35%

BCAT1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 12 . 25055885 2396.37 CG C PASS 0/1 127 FRAME_SHIFT HIGH None None None None None None None BCAT1|0.134347415|45.22%

C1GALT1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 7 . 7273951 2512.92 A G PASS 0/1 88 START_LOST HIGH None 0.03 0.08 None None None None None None C1GALT1|0.167160818|40.64%

C2orf83
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 2 rs2176186
dbSNP Clinvar 		228476140 2378.92 C T PASS 0/1 119 STOP_GAINED HIGH None 0.31390 0.31390 0.28079 None None None None None None C2orf83|0.001157033|94.67%

C5orf20
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 5 rs12520799
dbSNP Clinvar 		134782450 9735.5 T A PASS 0/1 221 STOP_GAINED HIGH None 0.64517 0.64520 0.40151 None None None None None None DCANP1|0.000625841|97.73%,TIFAB|0.012847206|78.59%

C9orf89
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 9 rs17593496
dbSNP Clinvar 		95872885 8827.92 C T PASS 0/1 367 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.05950 0.05950 0.11333 None None None None None None C9orf89|0.045771213|63.96%

CA8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 8 rs7464181
dbSNP Clinvar 		61178574 3564.5 T C PASS 0/1 106 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.50100 0.50100 0.47178 None None None None None None CA8|0.652125387|10.02%

CAD
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 2 rs1141313
dbSNP Clinvar 		27460968 7849.92 A G PASS 0/1 370 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.45467 0.45470 0.44987 None None None None None None CAD|0.237806166|32.61%
View gordonsepilepsy filtered 2487_pool 2 rs3739092
dbSNP Clinvar 		27462076 3897.92 C T PASS 0/1 219 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.26558 0.26560 0.23405 None None None None None None CAD|0.237806166|32.61%

CAMK2B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 7 rs11542228
dbSNP Clinvar 		44282868 5561.5 A G PASS 0/1 111 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.33566 0.33570 0.39905 None None None None None None CAMK2B|0.490715837|16.28%
View gordonsepilepsy filtered 2487_pool 7 rs11542227
dbSNP Clinvar 		44282877 5874.5 A G PASS 0/1 124 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.20986 0.20990 0.28149 None None None None None None CAMK2B|0.490715837|16.28%

CARF
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 2 rs201520695
dbSNP Clinvar 		203848307 2701.92 C CA PASS 0/1 116 FRAME_SHIFT HIGH None 0.00080 0.00080 0.00567 None None None None None None WDR12|0.769967473|6.57%,CARF|0.136478532|44.93%

CCHCR1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 6 rs3130453
dbSNP Clinvar 		31124849 12091.5 C T PASS 0/1 289 STOP_GAINED HIGH None 0.46925 0.46920 0.48507 None None None None None None CCHCR1|0.032661886|68.3%

CD180
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 5 rs1697144
dbSNP Clinvar 		66480004 24730.7 T C PASS 1/1 312 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99501 0.99500 0.00008 0.57 0.00 None None None None None None CD180|0.02755401|70.63%

CD200R1L
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 3 rs58161637
dbSNP Clinvar 		112545910 808.17 GT G PASS 0/1 48 FRAME_SHIFT HIGH None 0.16793 0.16790 0.25348 None None None None None None CD200R1L|0.000888221|96.09%

CDCP2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 1 rs3841798
dbSNP Clinvar 		54605318 3778.74 T TGG PASS 0/1 162 FRAME_SHIFT HIGH None 0.18150 None None None None None None CDCP2|0.053440915|61.64%
View gordonsepilepsy filtered 2487_pool 1 rs36013100
dbSNP Clinvar 		54605319 8437.17 G GC PASS 0/1 182 FRAME_SHIFT HIGH None 0.47983 0.47980 None None None None None None CDCP2|0.053440915|61.64%

CELA1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 12 rs148235680
dbSNP Clinvar 		51740416 9060.5 C CG PASS 0/1 158 FRAME_SHIFT HIGH None None None None None None None CELA1|0.06097239|59.6%
View gordonsepilepsy filtered 2487_pool 12 rs370927847
dbSNP Clinvar 		51740415 9105.5 A AAG PASS 0/1 154 FRAME_SHIFT HIGH None None None None None None None CELA1|0.06097239|59.6%
View gordonsepilepsy filtered 2487_pool 12 rs753836828
dbSNP Clinvar 		51740407 8776.5 CATAA C PASS 0/1 157 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None CELA1|0.06097239|59.6%
View gordonsepilepsy filtered 2487_pool 12 rs17860363
dbSNP Clinvar 		51723598 6690.5 A AG PASS 0/1 154 FRAME_SHIFT HIGH None 0.14557 0.14560 0.24992 None None None None None None CELA1|0.06097239|59.6%

CEP170
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 1 rs2728433
dbSNP Clinvar 		243328887 659.17 G T PASS 0/1 367 STOP_GAINED HIGH None None None None None None None CEP170|0.244807399|32.03%

CFTR
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 7 rs79074685
dbSNP Clinvar 		117188850 307.6 G T PASS 0/1 98 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00100 None None None None None None CFTR|0.947527653|2.33%

CHI3L1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 1 rs4950927
dbSNP Clinvar 		203148633 9010.69 A G PASS 1/1 114 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99960 0.99960 0.00185 None None None None None None CHI3L1|0.048433283|63.15%

CHI3L2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 1 rs2494007
dbSNP Clinvar 		111783996 12920.7 A G PASS 1/1 128 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99940 0.99940 0.00062 None None None None None None CHI3L2|0.012602272|78.81%

CHIA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 1 rs2275253
dbSNP Clinvar 		111861841 10548.2 A G PASS 0/1 219 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.65915 0.65910 0.27764 0.99 0.00 None None None None None None CHIA|0.03435619|67.66%

CLDN16
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 3 rs368234054
dbSNP Clinvar 		190106071 12778.7 AG A PASS 0/1 264 FRAME_SHIFT HIGH None 0.11701 0.11700 None None None None None None CLDN16|0.053365905|61.68%

CLECL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 12 rs71045297,rs113222621
dbSNP Clinvar 		9885707 21852.2 A AT... PASS 1/1 254 FRAME_SHIFT HIGH None 0.54872 0.54870 0.43154 None None None None None None CLECL1|0.001440928|93.09%

COL26A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 7 rs36008849,rs398095266
dbSNP Clinvar 		101200669 22175.7 A AG PASS 1/1 283 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00137 None None None None None None COL26A1|0.059520302|60.03%

CPOX
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 3 rs1729995
dbSNP Clinvar 		98304467 9250.92 T C PASS 1/1 114 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.75399 0.75400 0.25611 None None None None None None CPOX|0.108402411|49.49%

CREB3L1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 11 rs79068197,rs386373762
dbSNP Clinvar 		46342259 21844.7 A AG PASS 1/1 289 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00042 None None None None None None CREB3L1|0.229770101|33.39%

CRYZ
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 1 rs7527057
dbSNP Clinvar 		75172001 15404.7 T A PASS 1/1 201 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.21645 0.21650 0.34113 None None None None None None CRYZ|0.12483251|46.66%

CSF1R
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 5 rs10079250
dbSNP Clinvar 		149450132 731.83 T C PASS 0/1 71 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.15336 0.15340 0.07377 0.02 0.09 None None None None None None CSF1R|0.136347301|44.94%

CYP21A2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 6 rs6469
dbSNP Clinvar 		32008451 1916.72 C T PASS 0/1 86 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None CYP21A2|0.039907204|65.79%
View gordonsepilepsy filtered 2487_pool 6 rs6464
dbSNP Clinvar 		32006337 6219.68 C A PASS 1/1 56 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None CYP21A2|0.039907204|65.79%

CYP2R1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 11 rs12794714
dbSNP Clinvar 		14913575 4686.92 G A PASS 0/1 92 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.34924 0.34920 0.34162 None None None None None None CYP2R1|0.406542646|20.4%

CYTH3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 7 rs2301910
dbSNP Clinvar 		6204999 13739.2 A C PASS 1/1 198 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.79513 0.79510 0.25331 None None None None None None CYTH3|0.105093333|50.21%

DNAH11
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 7 rs2285943
dbSNP Clinvar 		21582963 4464.7 G T PASS 0/1 104 STOP_GAINED HIGH None 0.41194 0.41190 0.42685 None None None None None None DNAH11|0.38215847|21.9%

DPYSL2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 8 rs327222
dbSNP Clinvar 		26481771 9716.68 T C PASS 1/1 92 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.93670 0.93670 0.04006 None None None None None None DPYSL2|0.481859756|16.66%

DSP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 6 rs2076300
dbSNP Clinvar 		7584617 3501.17 C T PASS 0/1 165 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.21166 0.21170 0.30225 None None None None None None DSP|0.573194355|12.87%

DUSP12
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 1 rs1063178
dbSNP Clinvar 		161721707 950.92 C T PASS 0/1 48 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.36002 0.36000 0.35399 None None None None None None DUSP12|0.090238655|53.19%

DUSP5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 10 rs1889567
dbSNP Clinvar 		112266771 3294.17 C T PASS 0/1 197 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.28355 0.28350 0.31355 None None None None None None DUSP5|0.355332181|23.78%

ECHDC3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 10 rs7899215
dbSNP Clinvar 		11797436 24694.7 T C PASS 1/1 287 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.93131 0.93130 0.06366 None None None None None None ECHDC3|0.029496468|69.61%
View gordonsepilepsy filtered 2487_pool 10 rs10906011
dbSNP Clinvar 		11805357 17692.7 G A PASS 1/1 172 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.51578 0.51580 0.45548 None None None None None None ECHDC3|0.029496468|69.61%

EGFR
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 7 rs1050171
dbSNP Clinvar 		55249063 9942.92 G A PASS 1/1 163 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.43271 0.43270 0.45756 None None None None None None EGFR|0.999639222|0.3%

ENPP4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 6 rs9472696
dbSNP Clinvar 		46108916 5125.92 C G PASS 1/1 79 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.09345 0.09345 0.09177 None None None None None None ENPP4|0.141883971|44.16%

EPHA2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 1 rs2230597
dbSNP Clinvar 		16464673 3172.94 G A PASS 0/1 97 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.34944 0.34940 0.38879 None None None None None None EPHA2|0.768915771|6.62%
View gordonsepilepsy filtered 2487_pool 1 rs6678618
dbSNP Clinvar 		16475126 6329.92 C T PASS 0/1 218 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.22664 0.22660 0.28487 None None None None None None EPHA2|0.768915771|6.62%
View gordonsepilepsy filtered 2487_pool 1 rs6678616
dbSNP Clinvar 		16475123 6362.92 C T PASS 0/1 223 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.22644 0.22640 0.28495 None None None None None None EPHA2|0.768915771|6.62%

EPHB1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 3 rs56317545
dbSNP Clinvar 		134967263 1980.69 C A PASS 0/1 120 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00679 0.00679 0.01085 None None None None None None EPHB1|0.895849535|3.5%

EPHB3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 3 rs13069661
dbSNP Clinvar 		184289152 8006.49 A G PASS 1/1 158 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.21146 0.21150 0.18776 None None None None None None EIF2B5|0.736636231|7.47%,EPHB3|0.920048428|2.98%

ERAP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 5 rs30187
dbSNP Clinvar 		96124330 13978.7 T C PASS 1/1 157 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59625 0.59620 0.37244 0.05 0.50 None None None None None None ERAP1|0.109230521|49.33%
View gordonsepilepsy filtered 2487_pool 5 rs17482078
dbSNP Clinvar 		96118866 6291.5 C T PASS 1/1 108 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.10064 0.10060 0.16792 0.04 0.18 None None None None None None ERAP1|0.109230521|49.33%

ERAP2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 5 rs2549782
dbSNP Clinvar 		96231000 6301.7 G T PASS 0/1 233 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.55272 0.55270 0.45902 1.00 0.00 None None None None None None ERAP2|0.036210068|67.06%

ERCC6L2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 9 rs690528
dbSNP Clinvar 		98638288 5839.41 A G PASS 1/1 137 START_LOST HIGH None 0.25240 0.25240 0.24126 0.71 0.02 None None None None None None ERCC6L2|0.051614036|62.16%

EXO1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 1 rs4149909
dbSNP Clinvar 		242023898 3943.92 A G PASS 0/1 134 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.01258 0.01258 0.02468 0.00 0.98 None None None None None None EXO1|0.567140153|13.1%

FAM151A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 1 rs373739034
dbSNP Clinvar 		55076137 1824.17 CC... C PASS 0/1 175 FRAME_SHIFT HIGH None 0.01937 0.01937 0.03019 None None None None None None ACOT11|0.083532045|54.52%,FAM151A|0.008566095|82.1%

FAM86B1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 8 rs777526481
dbSNP Clinvar 		12043949 157.37 GCTGT G PASS 1/1 1 FRAME_SHIFT HIGH None 0.00662 None None None None None None FAM86B1|0.001793469|91.55%

FCGR2A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 1 rs9427397
dbSNP Clinvar 		161476204 11415.2 C T PASS 0/1 160 STOP_GAINED HIGH None 0.05611 0.05611 0.09680 None None None None None None FCGR2A|0.010324745|80.62%

FDFT1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 8 rs8417
dbSNP Clinvar 		11667179 1655.92 C T PASS 0/1 104 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.23782 0.23780 0.16654 None None None None None None FDFT1|0.104063444|50.39%
View gordonsepilepsy filtered 2487_pool 8 rs904011
dbSNP Clinvar 		11683653 13866.7 T C PASS 1/1 140 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.97504 0.97500 0.02630 None None None None None None FDFT1|0.104063444|50.39%

FGFR2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 10 rs1047100
dbSNP Clinvar 		123298158 14342.7 T C PASS 1/1 189 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.79533 0.79530 0.23328 None None None None None None FGFR2|0.998388411|0.5%

FMO2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 1 rs28369860
dbSNP Clinvar 		171165802 718.69 TG T PASS 0/1 33 FRAME_SHIFT HIGH None 0.10284 0.10280 0.11605 None None None None None None FMO2|0.07234096|56.93%

FOLH1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2487_pool 11 rs79155991
dbSNP Clinvar 		49208319 216.27 G A PASS 0/1 113 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00885 None None None None None None FOLH1|0.065976588|58.36%
View gordonsepilepsy filtered 2487_pool 11 rs202680
dbSNP Clinvar 		49221885 13890.2 T A PASS 0/1 344 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.41494 0.41490 0.35832 None None None None None None FOLH1|0.065976588|58.36%
View gordonsepilepsy filtered 2487_pool 11 rs202716
dbSNP Clinvar 		49196490 5679.17 T C PASS 0/1 135 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.41833 0.41830 None None None None None None FOLH1|0.065976588|58.36%