+ Filter Options

SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
 EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
 CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE 		MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

+ Genes 204

+ Genes associated with diseases 80

Genes at Omim

ACADS, ACTN4, ACVR1, ADA, ADCK3, AKR1D1, ALAD, ALDH4A1, APC, BARD1, CA2, CAD, CAMK2B, CAT, CBS, CD207, CENPE, CHI3L1, COMT, CPOX, CRYBA4, CYP11B2, CYP2C8, CYP2R1, DCXR, DPP6, DSP, EGFR, EIF2AK3, EP300, EPHA2, EPHX2, EPM2A, ERCC1, FDFT1, FGFR2, GBE1, GGT1, GLRX5, GUSB, HAAO, HBB, HERC2, HSPA9, INPP5E, ITPA, KRAS, LIG4, LMAN1, LRP6, MAT1A, MEFV, MTAP, MVK, MYH7, NCF2, NEK2, NLRP1, OAT, PAH, PCK1, PCSK9, PDE10A, PNPT1, PPP2R1A, PRNP, PSAT1, RIPK1, RNASET2, RTN4IP1, SEC23A, SNRNP200, TBP, TIRAP, TLR3, TOP3A, VWF, WARS, YWHAG, ZAP70,
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
ACTN4 Glomerulosclerosis, focal segmental, 1, 603278 (3)
ACVR1 Fibrodysplasia ossificans progressiva, 135100 (3)
ADA Adenosine deaminase deficiency, partial, 102700 (3)
Severe combined immunodeficiency due to ADA deficiency, 102700 (3)
ADCK3 Coenzyme Q10 deficiency, primary, 4, 612016 (3)
AKR1D1 Bile acid synthesis defect, congenital, 2, 235555 (3)
ALAD {Lead poisoning, susceptibility to}, 612740 (3)
Porphyria, acute hepatic, 612740 (3)
ALDH4A1 Hyperprolinemia, type II, 239510 (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)
BARD1 {Breast cancer, susceptibility to}, 114480 (3)
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)
CAD Epileptic encephalopathy, early infantile, 50, 616457 (3)
CAMK2B Mental retardation, autosomal dominant 54, 617799 (3)
CAT Acatalasemia, 614097 (3)
CBS Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)
Thrombosis, hyperhomocysteinemic, 236200 (3)
CD207 [?Birbeck granule deficiency], 613393 (3)
CENPE ?Microcephaly 13, primary, autosomal recessive, 616051 (3)
CHI3L1 {Schizophrenia, susceptibility to}, 181500 (3)
{Asthma-related traits, susceptibility to, 7}, 611960 (3)
COMT {Panic disorder, susceptibility to}, 167870 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
CPOX Harderoporphyria, 121300 (3)
Coproporphyria, 121300 (3)
CRYBA4 Cataract 23, 610425 (3)
CYP11B2 Aldosterone to renin ratio raised (3)
{Low renin hypertension, susceptibility to} (3)
Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)
Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3)
CYP2C8 {Drug metabolism, altered, CYP2C8-related}, 618018 (3)
CYP2R1 Rickets due to defect in vitamin D 25-hydroxylation, 600081 (3)
DCXR [Pentosuria], 260800 (3)
DPP6 {Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3)
Mental retardation, autosomal dominant 33, 616311 (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)
EIF2AK3 Wolcott-Rallison syndrome, 226980 (3)
EP300 Colorectal cancer, somatic, 114500 (3)
Menke-Hennekam syndrome 2, 618333 (3)
Rubinstein-Taybi syndrome 2, 613684 (3)
EPHA2 Cataract 6, multiple types, 116600 (3)
EPHX2 {Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3)
EPM2A Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3)
ERCC1 Cerebrooculofacioskeletal syndrome 4, 610758 (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)
GBE1 Glycogen storage disease IV, 232500 (3)
Polyglucosan body disease, adult form, 263570 (3)
GGT1 ?Glutathioninuria, 231950 (3)
GLRX5 Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 (3)
Spasticity, childhood-onset, with hyperglycinemia, 616859 (3)
GUSB Mucopolysaccharidosis VII, 253220 (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)
HERC2 Mental retardation, autosomal recessive 38, 615516 (3)
[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3)
[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
HSPA9 Anemia, sideroblastic, 4, 182170 (3)
Even-plus syndrome, 616854 (3)
INPP5E Joubert syndrome 1, 213300 (3)
Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)
ITPA Epileptic encephalopathy, early infantile, 35, 616647 (3)
[Inosine triphosphatase deficiency], 613850 (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)
LIG4 {Multiple myeloma, resistance to}, 254500 (3)
LIG4 syndrome, 606593 (3)
LMAN1 Combined factor V and VIII deficiency, 227300 (3)
LRP6 Tooth agenesis, selective, 7, 616724 (3)
{Coronary artery disease, autosomal dominant, 2}, 610947 (3)
MAT1A Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3)
Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)
MEFV Familial Mediterranean fever, AD, 134610 (3)
Familial Mediterranean fever, AR, 249100 (3)
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3)
MVK Hyper-IgD syndrome, 260920 (3)
Mevalonic aciduria, 610377 (3)
Porokeratosis 3, multiple types, 175900 (3)
MYH7 Cardiomyopathy, dilated, 1S, 613426 (3)
Cardiomyopathy, hypertrophic, 1, 192600 (3)
Laing distal myopathy, 160500 (3)
Left ventricular noncompaction 5, 613426 (3)
Myopathy, myosin storage, autosomal dominant, 608358 (3)
Myopathy, myosin storage, autosomal recessive, 255160 (3)
Scapuloperoneal syndrome, myopathic type, 181430 (3)
NCF2 Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)
NEK2 ?Retinitis pigmentosa 67, 615565 (3)
NLRP1 Autoinflammation with arthritis and dyskeratosis, 617388 (3)
{Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3)
Palmoplantar carcinoma, multiple self-healing, 615225 (3)
OAT Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3)
PAH Phenylketonuria, 261600 (3)
[Hyperphenylalaninemia, non-PKU mild], 261600 (3)
PCK1 ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (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)
PNPT1 Combined oxidative phosphorylation deficiency 13, 614932 (3)
Deafness, autosomal recessive 70, 614934 (3)
PPP2R1A Mental retardation, autosomal dominant 36, 616362 (3)
PRNP Gerstmann-Straussler disease, 137440 (3)
{Kuru, susceptibility to}, 245300 (3)
Cerebral amyloid angiopathy, PRNP-related, 137440 (3)
Huntington disease-like 1, 603218 (3)
Creutzfeldt-Jakob disease, 123400 (3)
Insomnia, fatal familial, 600072 (3)
Prion disease with protracted course, 606688 (3)
PSAT1 Neu-Laxova syndrome 2, 616038 (3)
?Phosphoserine aminotransferase deficiency, 610992 (3)
RIPK1 Immunodeficiency 57, 618108 (3)
RNASET2 Leukoencephalopathy, cystic, without megalencephaly, 612951 (3)
RTN4IP1 Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3)
SEC23A Craniolenticulosutural dysplasia, 607812 (3)
SNRNP200 Retinitis pigmentosa 33, 610359 (3)
TBP {Parkinson disease, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 17, 607136 (3)
TIRAP {Malaria, protection against}, 611162 (3)
{Pneumococcal disease, invasive, protection against}, 610799 (3)
{Tuberculosis, protection against}, 607948 (3)
{Bacteremia, protection against}, 614382 (3)
TLR3 {HIV1 infection, resistance to}, 609423 (3)
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 (3)
TOP3A Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097 (3)
?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 (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)
WARS Neuronopathy, distal hereditary motor, type IX, 617721 (3)
YWHAG Epileptic encephalopathy, early infantile, 56, 617665 (3)
ZAP70 Autoimmune disease, multisystem, infantile-onset, 2, 617006 (3)
Immunodeficiency 48, 269840 (3)

Genes at Clinical Genomics Database

ACADS, ACTN4, ACVR1, ADA, ADCK3, AKR1D1, ALAD, ALDH4A1, APC, BARD1, CA2, CAD, CAT, CBS, CD207, CENPE, COMT, CPOX, CRYBA4, CYP11B2, CYP2C8, CYP2R1, DCXR, DPP6, DSP, EGFR, EIF2AK3, EP300, EPHA2, EPM2A, ERCC1, FGFR2, GBE1, GLRX5, GUSB, HBB, HERC2, HSPA9, IL10RB, INPP5E, ITPA, KRAS, LIG4, LMAN1, LRP6, MAT1A, MEFV, MTAP, MVK, MYH7, NCF2, NEK2, NLRP1, OAT, PAH, PCSK9, PDE10A, PNPT1, PPP2R1A, PRNP, PSAT1, RNASET2, RTN4IP1, SEC23A, SNRNP200, TBP, TLR3, TRAP1, VWF, ZAP70,
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
ACTN4 Focal segmental glomerulosclerosis 1
ACVR1 Fibrodysplasia ossificans progressiva
ADA Severe combined immunodeficiency due to adenosine deaminase deficiency
ADCK3 Coenzyme Q10 deficiency
Progressive cerebellar ataxia and atrophy
Spinocerebellar ataxia 9
AKR1D1 Bile acid synthesis defect, congenital, 2
ALAD Porphyria, acute hepatic
ALDH4A1 Hyperprolinemia, type II
APC Familial adenomatous polyposis
Gardner syndrome
Desmoid disease, hereditary
BARD1 Breast cancer, susceptibility to
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
CAD Congenital disorder of glycosylation, type Iz
CAT Acatalasemia
CBS Homocystinuria due to cystathionine beta-synthase deficiency
CD207 Birbeck granule deficiency
CENPE Microcephaly 13, primary, autosomal recessive
COMT Medication response, association with
CPOX Coproporphyria
Harderoporphyria
CRYBA4 Cataract 23
CYP11B2 Corticosterone methyloxidase type I deficiency
Corticosterone methyloxidase type II deficiency
Glucocorticoid-remediable aldosteronism
CYP2C8 Rhabdomyolysis, cerivastatin-induced
CYP2R1 Vitamin D hydroxylation deficient rickets, type 1B
DCXR Pentosuria
DPP6 Ventricular fibrillation, paroxysmal familial, 2
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
EIF2AK3 Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
Wolcott-Rallison syndrome
EP300 Rubinstein-Taybi syndrome 2
EPHA2 Cataract 6, multiple types
EPM2A Epilepsy, progressive myoclonic 2A (Lafora)
ERCC1 Cerebrooculofacioskeletal syndrome 4
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
GBE1 Glycogen storage disease IV
GLRX5 Anemia, sideroblastic 3, pyridoxine-refractory
GUSB Mucopolysaccharidosis type VII
HBB Beta-thalassemia
Sickle cell disease
Thalassemia-beta, dominant inclusion body
Other Thalassemias/Hemoglobinopathies
HERC2 Skin/hair/eye pigmentation 1
Mental retardation, autosomal recessive 38
HSPA9 Anemia, sideroblastic 4
IL10RB Inflammatory bowel disease 25, early onset, autosomal recessive
INPP5E Joubert syndrome 1
Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)
ITPA Inosine triphosphatase deficiency
KRAS Noonan syndrome
Cardiofaciocutaneous syndrome
LIG4 LIG4 syndrome
Severe combined immunodeficiency with sensitivity to ionizing radiation
LMAN1 Combined factor V and VIII deficiency
LRP6 Coronary artery disease, autosomal dominant 2
MAT1A Methionine adenosyltransferase deficiency
MEFV Familial Mediterranean fever
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma
MVK Mevalonic aciduria
Hyper-IgD syndrome
MYH7 Cardiomyopathy, dilated, 1S
Cardiomyopathy, familial hypertrophic
Myopathy, distal
Myopathy, myosin storage, autosomal recessive
NCF2 Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type II
NEK2 Retinitis pigmentosa 67
NLRP1 Corneal intraepithelial dyskeratosis and ectodermal dysplasia
OAT Gyrate atrophy of choroid and retina
PAH Phenylketonuria
Hyperphenylalaninemia, non-PKU mild
PCSK9 Hypercholesterolemia, familial, 3
PDE10A Striatal degeneration, autosomal dominant 2
Infantile-onset dyskinesia
PNPT1 Deafness, autosomal recessive 70
PPP2R1A Mental retardation, autosomal dominant 36
PRNP Spongiform encephalopathy with neuropsychiatric features
Huntington disease-like 1
Gerstmann-Straussler disease
Creutzfeldt-Jakob disease
Insomnia, fatal familial
Dementia, Lewy body
PSAT1 Phosphoserine aminotransferase deficiency
RNASET2 Leukoencephalopathy, cystic, without megalencephaly
RTN4IP1 Optic atrophy 10 with or without ataxia, mental retardation, and seizures
SEC23A Craniolenticulosutural dysplasia
SNRNP200 Retinitis pigmentosa 33
TBP Spinocerebellar ataxia 17
TLR3 Herpes simplex encephalitis, susceptibility to, 2
TRAP1 Congenital abnormalities of the kidney and urinary tract
VACTERL association
VWF von Willebrand disease, type 1
von Willebrand disease, type 2A
von Willebrand disease, type 3
ZAP70 Selective T-cell defect

Genes at HGMD

Summary

Number of Variants: 249
Number of Genes: 204

Export to: CSV

ACACB
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 15001702300578a snp-1 12 rs11065772
dbSNP Clinvar 		109617865 2149.77 T C PASS 1/1 66 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.67732 0.67730 0.25996 None None None None None None ACACB|0.108212697|49.54%

ACADS
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 15001702300578a snp-1 12 rs3914
dbSNP Clinvar 		121174899 989.77 T C PASS 0/1 70 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59066 0.59070 0.49323 None None None None None None ACADS|0.070436549|57.39%

ACLY
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 15001702300578a snp-1 17 rs8065502
dbSNP Clinvar 		40048613 16299.8 A G PASS 1/1 461 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.90435 0.90440 0.12479 None None None None None None ACLY|0.44685425|18.3%

ACTN4
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 15001702300578a snp-1 19 rs3745859
dbSNP Clinvar 		39196745 5302.77 C T PASS 0/1 390 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.33926 0.33930 0.39236 None None None None None None ACTN4|0.387377198|21.58%

ACVR1
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 15001702300578a snp-1 2 rs1146031
dbSNP Clinvar 		158626980 13891.8 C T PASS 1/1 432 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.91394 0.91390 0.08850 None None None None None None ACVR1|0.908763541|3.27%

ADA
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 15001702300578a snp-1 20 rs394105
dbSNP Clinvar 		43264927 7372.77 C T PASS 1/1 214 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.98223 0.98220 0.01538 None None None None None None ADA|0.574821556|12.82%

ADAM8
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 15001702300578a snp-1 10 rs1131720
dbSNP Clinvar 		135085321 3369.77 C T PASS 1/1 99 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15001702300578a snp-1 1 rs3738725
dbSNP Clinvar 		227174210 3817.77 T C PASS 0/1 284 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.31390 0.31390 0.44218 None None None None None None ADCK3|0.102470418|50.69%

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 15001702300578a snp-1 11 rs2228418
dbSNP Clinvar 		67034266 3543.77 C A PASS 1/1 114 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.64876 0.64880 0.25747 None None None None None None ADRBK1|0.645969984|10.23%

AKR1D1
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 15001702300578a snp-1 7 rs143101649
dbSNP Clinvar 		137792253 3872.77 G A PASS 0/1 310 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00020 0.00020 0.00008 0.02 0.97 7.32 0.10 0.7729 D None None None None AKR1D1|0.024543547|72.01%

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 15001702300578a snp-1 9 rs1139488
dbSNP Clinvar 		116153900 1160.77 A G PASS 0/1 80 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 15001702300578a snp-1 1 rs2230708
dbSNP Clinvar 		19201956 2345.77 A G PASS 1/1 72 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.73722 0.73720 0.29779 None None None None None None ALDH4A1|0.121498662|47.22%
View 15001702300578a snp-1 1 rs7550938
dbSNP Clinvar 		19202917 2956.77 T C PASS 1/1 68 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.66094 0.66090 0.37698 None None None None None None ALDH4A1|0.121498662|47.22%
View 15001702300578a snp-1 1 rs2230705
dbSNP Clinvar 		19203997 1620.77 C G PASS 1/1 48 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.64157 0.64160 0.28846 None None None None None None ALDH4A1|0.121498662|47.22%

ALKBH3
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 15001702300578a snp-1 11 rs1048928
dbSNP Clinvar 		43940644 7986.77 G T PASS 1/1 246 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.61621 0.61620 0.46456 None None None None None None ALKBH3|0.085956572|53.95%

ALOX15B
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 15001702300578a snp-1 17 rs76589243
dbSNP Clinvar 		7942901 1094.77 C G PASS 0/1 67 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.26358 0.26360 0.22180 None None None None None None ALOX15B|0.008183706|82.49%

ANGPT2
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 15001702300578a snp-1 8 rs17063434
dbSNP Clinvar 		6371303 3930.77 A G PASS 0/1 280 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.04433 0.04433 0.06412 None None None None None None MCPH1|0.001260573|94.1%,ANGPT2|0.704905052|8.36%

ANPEP
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 15001702300578a snp-1 15 rs25651
dbSNP Clinvar 		90335788 1677.77 C T PASS 0/1 113 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.35064 0.35060 0.37537 1.00 0.00 -1.61 None None None None None None ANPEP|0.009750059|81.03%
View 15001702300578a snp-1 15 rs25653
dbSNP Clinvar 		90349558 5832.77 C T PASS 0/1 397 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.57907 0.57910 0.36598 0.53 0.00 0.62 None None None None None None ANPEP|0.009750059|81.03%

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 15001702300578a snp-1 5 rs2229992
dbSNP Clinvar 		112162854 8625.77 T C PASS 1/1 257 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.50998 0.51000 0.46217 None None None None None None APC|0.952088564|2.19%

APOBEC3G
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 15001702300578a snp-1 22 rs17496046
dbSNP Clinvar 		39482371 9021.77 C G PASS 0/1 677 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.05731 0.05731 0.09296 0.05 0.99 1.16 None None None None None None APOBEC3G|0.000537592|98.25%

AQR
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 15001702300578a snp-1 15 rs199672982
dbSNP Clinvar 		35168195 1480.77 A G PASS 0/1 110 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00100 0.00100 0.00153 None None None None None None AQR|0.159778967|41.59%

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 15001702300578a snp-1 6 rs2236181
dbSNP Clinvar 		90661576 1799.77 T C PASS 0/1 147 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 15001702300578a snp-1 2 rs2070094
dbSNP Clinvar 		215632255 10701.8 C T PASS 1/1 237 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.36621 0.36620 0.28064 0.12 0.03 0.21 None None None None None None BARD1|0.230178617|33.35%
View 15001702300578a snp-1 2 rs2070093
dbSNP Clinvar 		215632256 10701.8 A G PASS 1/1 240 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.77057 0.77060 0.28618 None None None None None None BARD1|0.230178617|33.35%

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 15001702300578a snp-1 9 rs17593496
dbSNP Clinvar 		95872885 3218.75 C T PASS 0/1 211 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.05950 0.05950 0.11333 None None None None None None C9orf89|0.045771213|63.96%

CA2
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 15001702300578a snp-1 8 rs703
dbSNP Clinvar 		86389403 5863.77 T C PASS 0/1 407 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.57768 0.57770 0.35691 None None None None None None CA2|0.889108016|3.7%

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 15001702300578a snp-1 2 rs1141313
dbSNP Clinvar 		27460968 2411.77 A G PASS 0/1 197 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.45467 0.45470 0.44987 None None None None None None CAD|0.237806166|32.61%
View 15001702300578a snp-1 2 rs3739092
dbSNP Clinvar 		27462076 2285.77 C T PASS 0/1 149 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 15001702300578a snp-1 7 rs11542227
dbSNP Clinvar 		44282877 2209.77 A G PASS 0/1 102 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.20986 0.20990 0.28149 None None None None None None CAMK2B|0.490715837|16.28%
View 15001702300578a snp-1 7 rs11542228
dbSNP Clinvar 		44282868 2291.77 A G PASS 0/1 108 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.33566 0.33570 0.39905 None None None None None None CAMK2B|0.490715837|16.28%

CAPN2
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 15001702300578a snp-1 1 rs17598
dbSNP Clinvar 		223933079 2059.77 C T PASS 0/1 158 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.27516 0.27520 0.24166 None None None None None None CAPN2|0.174674652|39.7%

CAPN9
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 15001702300578a snp-1 1 rs2282319
dbSNP Clinvar 		230898494 2295.77 C T PASS 0/1 199 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.33287 0.33290 0.33731 None None None None None None CAPN9|0.040556214|65.59%
View 15001702300578a snp-1 1 rs3828126
dbSNP Clinvar 		230903350 1322.77 T C PASS 0/1 93 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.22464 0.22460 0.28256 None None None None None None CAPN9|0.040556214|65.59%

CAT
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 15001702300578a snp-1 11 rs769217
dbSNP Clinvar 		34482908 14394.8 C T PASS 1/1 401 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.26278 0.26280 0.21123 None None None None None None CAT|0.949304275|2.27%

CBLB
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 15001702300578a snp-1 3 rs2305035
dbSNP Clinvar 		105439026 2725.77 G A PASS 0/1 246 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.21006 0.21010 0.20429 None None None None None None CBLB|0.559095691|13.39%

CBR3
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 15001702300578a snp-1 21 rs881711
dbSNP Clinvar 		37507745 1371.77 C T PASS 0/1 136 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.82029 0.82030 0.15339 None None None None None None CBR3|0.052541759|61.89%
View 15001702300578a snp-1 21 rs881712
dbSNP Clinvar 		37507769 1242.77 C T PASS 0/1 115 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.30851 0.30850 0.33905 None None None None None None CBR3|0.052541759|61.89%

CBS
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 15001702300578a snp-1 21 rs121964964
dbSNP Clinvar 		44486463 3090.77 G A PASS 0/1 209 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00020 0.00020 0.00038 0.01 0.37 7.04 0.41 0.93658 D None None None None CBS|0.170288794|40.28%

CCDC101
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 15001702300578a snp-1 16 rs3194168
dbSNP Clinvar 		28603012 3057.77 A G PASS 0/1 269 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.07748 0.07748 0.11628 None None None None None None CCDC101|0.21642996|34.83%
View 15001702300578a snp-1 16 rs11401
dbSNP Clinvar 		28602991 3611.77 A G PASS 0/1 303 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.17412 0.17410 0.17262 None None None None None None CCDC101|0.21642996|34.83%

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 15001702300578a snp-1 5 rs1697144
dbSNP Clinvar 		66480004 12011.8 T C PASS 1/1 332 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99501 0.99500 0.00008 0.57 0.00 -2.29 None None None None None None CD180|0.02755401|70.63%

CD207
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 15001702300578a snp-1 2 rs3213749
dbSNP Clinvar 		71058906 7643.77 G T PASS 1/1 240 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.12939 0.12940 0.08546 None None None None None None CD207|0.004253024|86.68%
View 15001702300578a snp-1 2 rs13383830
dbSNP Clinvar 		71058306 8012.77 T C PASS 1/1 262 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.12959 0.12960 0.08711 0.04 0.28 3.41 None None None None None None CD207|0.004253024|86.68%
View 15001702300578a snp-1 2 rs6712863
dbSNP Clinvar 		71060037 9540.77 A G PASS 1/1 300 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.17292 0.17290 0.13582 None None None None None None CD207|0.004253024|86.68%

CENPE
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 15001702300578a snp-1 4 rs2290943
dbSNP Clinvar 		104117191 2707.77 A G PASS 0/1 166 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.11981 0.11980 0.15585 None None None None None None CENPE|0.108588521|49.44%
View 15001702300578a snp-1 4 rs17217250
dbSNP Clinvar 		104102563 1030.77 T C PASS 0/1 86 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.11961 0.11960 0.15567 None None None None None None CENPE|0.108588521|49.44%

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 15001702300578a snp-1 1 rs880633
dbSNP Clinvar 		203152801 9579.77 T C PASS 1/1 286 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.37300 0.37300 0.41442 0.00 0.31 4.22 None None None None None None CHI3L1|0.048433283|63.15%
View 15001702300578a snp-1 1 rs4950927
dbSNP Clinvar 		203148633 2169.77 A G PASS 1/1 66 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 15001702300578a snp-1 1 rs2494007
dbSNP Clinvar 		111783996 3554.77 A G PASS 1/1 101 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99940 0.99940 0.00062 None None None None None None CHI3L2|0.012602272|78.81%
View 15001702300578a snp-1 1 rs13721
dbSNP Clinvar 		111783982 985.77 C A PASS 0/1 90 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.10883 0.19030 0.23297 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 15001702300578a snp-1 1 rs2275253
dbSNP Clinvar 		111861841 7588.77 A G PASS 1/1 222 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.65915 0.65910 0.27764 0.99 0.00 -1.56 None None None None None None CHIA|0.03435619|67.66%

CLC
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 15001702300578a snp-1 19 rs384138
dbSNP Clinvar 		40224986 13259.8 A G PASS 1/1 369 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.60923 0.60920 0.30071 None None None None None None CLC|0.000863861|96.26%

CNOT1
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 15001702300578a snp-1 16 rs246258
dbSNP Clinvar 		58579274 5334.77 C T PASS 0/1 366 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.28435 0.28430 0.22176 None None None None None None CNOT1|0.849359651|4.66%

COMT
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 15001702300578a snp-1 22 rs4680
dbSNP Clinvar 		19951271 6074.77 G A PASS 0/1 386 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.36921 0.36920 0.45148 0.09 0.08 1.13 None None None None None None COMT|0.166055932|40.8%
View 15001702300578a snp-1 22 rs4818
dbSNP Clinvar 		19951207 4767.77 C G PASS 0/1 358 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.29693 0.29690 0.32754 None None None None None None COMT|0.166055932|40.8%
View 15001702300578a snp-1 22 rs4633
dbSNP Clinvar 		19950235 1594.77 C T PASS 0/1 107 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.37161 0.37160 0.46009 None None None None None None COMT|0.166055932|40.8%

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 15001702300578a snp-1 3 rs1729995
dbSNP Clinvar 		98304467 2203.77 T C PASS 1/1 63 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.75399 0.75400 0.25611 None None None None None None CPOX|0.108402411|49.49%

CRYBA4
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 15001702300578a snp-1 22 rs5761637
dbSNP Clinvar 		27021457 4755.77 T C PASS 1/1 142 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.92372 0.92370 0.12663 None None None None None None CRYBA4|0.095204311|52.06%

CRYL1
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 15001702300578a snp-1 13 rs14236
dbSNP Clinvar 		21063524 2201.77 A G PASS 0/1 231 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.27037 0.27040 0.29022 None None None None None None CRYL1|0.031917441|68.66%

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 15001702300578a snp-1 1 rs7527057
dbSNP Clinvar 		75172001 2251.77 T A PASS 0/1 156 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.21645 0.21650 0.34113 None None None None None None CRYZ|0.12483251|46.66%

CSK
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 15001702300578a snp-1 15 rs33991421
dbSNP Clinvar 		75093422 2795.77 C T PASS 0/1 215 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00938 0.00939 0.01325 None None None None None None CSK|0.400426562|20.75%

CYP11B2
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 15001702300578a snp-1 8 rs4539
dbSNP Clinvar 		143996539 1776.77 T C PASS 0/1 115 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.34645 0.34640 0.37660 0.58 0.00 -2.49 None None None None None None GML|0.000127964|99.9%,CYP11B2|0.013075672|78.46%
View 15001702300578a snp-1 8 rs4538
dbSNP Clinvar 		143994702 2085.77 G T PASS 1/1 64 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.60763 0.60760 0.46585 None None None None None None GML|0.000127964|99.9%,CYP11B2|0.013075672|78.46%

CYP2A13
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 15001702300578a snp-1 19 rs75703079
dbSNP Clinvar 		41595958 145.77 C T PASS 0/1 40 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 1.00 0.01 0.22 None None None None None None CYP2A13|0.03541962|67.35%

CYP2C8
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 15001702300578a snp-1 10 rs41286886
dbSNP Clinvar 		96824658 5952.77 C T PASS 0/1 462 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00260 0.00260 0.00531 1.00 0.01 0.95 None None None None None None CYP2C8|0.004045398|86.94%

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 15001702300578a snp-1 11 rs12794714
dbSNP Clinvar 		14913575 2451.77 G A PASS 1/1 69 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 15001702300578a snp-1 7 rs2301910
dbSNP Clinvar 		6204999 5841.77 A C PASS 1/1 187 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.79513 0.79510 0.25331 None None None None None None CYTH3|0.105093333|50.21%

DCXR
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 15001702300578a snp-1 17 rs9780
dbSNP Clinvar 		79994600 2145.77 C T PASS 0/1 140 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.21566 0.21570 0.26818 None None None None None None DCXR|0.037543975|66.61%

DDB1
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 15001702300578a snp-1 11 rs2230356
dbSNP Clinvar 		61099072 4563.77 G A PASS 0/1 351 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.04732 0.04732 0.08421 None None None None None None DDB1|0.893451935|3.59%

DPP6
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 15001702300578a snp-1 7 rs56091483
dbSNP Clinvar 		154561188 3739.77 C T PASS 0/1 286 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.09685 0.09685 0.08817 None None None None None None DPP6|0.155216903|42.27%
View 15001702300578a snp-1 7 rs3807218
dbSNP Clinvar 		154461112 4652.77 A G PASS 1/1 134 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.79732 0.79730 0.16409 None None None None None None DPP6|0.155216903|42.27%

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 15001702300578a snp-1 8 rs327222
dbSNP Clinvar 		26481771 9240.77 T C PASS 1/1 271 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 15001702300578a snp-1 6 rs2076300
dbSNP Clinvar 		7584617 3192.79 C T PASS 0/1 256 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.21166 0.21170 0.30225 None None None None None None DSP|0.573194355|12.87%

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 15001702300578a snp-1 10 rs1889567
dbSNP Clinvar 		112266771 2369.77 C T PASS 0/1 165 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 15001702300578a snp-1 10 rs10906011
dbSNP Clinvar 		11805357 3141.77 G A PASS 1/1 69 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.51578 0.51580 0.45548 None None None None None None ECHDC3|0.029496468|69.61%
View 15001702300578a snp-1 10 rs7899215
dbSNP Clinvar 		11797436 9566.77 T C PASS 1/1 276 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.93131 0.93130 0.06366 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 15001702300578a snp-1 7 rs1050171
dbSNP Clinvar 		55249063 4228.77 G A PASS 1/1 127 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.43271 0.43270 0.45756 None None None None None None EGFR|0.999639222|0.3%

EIF2AK3
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 15001702300578a snp-1 2 rs1805164
dbSNP Clinvar 		88879131 1358.77 T C PASS 0/1 94 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.25819 0.25820 0.27311 None None None None None None EIF2AK3|0.850003581|4.63%

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 15001702300578a snp-1 6 rs7451713
dbSNP Clinvar 		46107752 3003.77 C G PASS 0/1 244 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.45168 0.45170 0.43957 0.12 0.09 0.90 None None None None None None ENPP4|0.141883971|44.16%

EP300
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 15001702300578a snp-1 22 rs20552
dbSNP Clinvar 		41551039 9141.77 T A PASS 0/1 668 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.67392 0.67390 0.41689 None None None None None None EP300|0.997012534|0.67%

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 15001702300578a snp-1 1 rs2230597
dbSNP Clinvar 		16464673 904.77 G A PASS 0/1 83 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.34944 0.34940 0.38879 None None None None None None EPHA2|0.768915771|6.62%

EPHX2
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 15001702300578a snp-1 8 rs751141
dbSNP Clinvar 		27373865 2633.77 G A PASS 0/1 207 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.12959 0.12960 0.10218 0.03 0.94 6.38 None None None None None None EPHX2|0.350156856|24.1%

EPM2A
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 15001702300578a snp-1 6 rs147399860
dbSNP Clinvar 		145956419 3693.77 G A PASS 0/1 278 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00060 0.00060 0.00123 0.64 0.00 1.05 0.02 0.41282 T None None None None EPM2A|0.182290877|38.74%

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 15001702300578a snp-1 5 rs17482078
dbSNP Clinvar 		96118866 3321.77 C T PASS 0/1 244 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.10064 0.10060 0.16792 0.04 0.13 4.28 None None None None None None ERAP1|0.109230521|49.33%
View 15001702300578a snp-1 5 rs30187
dbSNP Clinvar 		96124330 17551.8 T C PASS 1/1 492 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59625 0.59620 0.37244 0.05 0.97 5.58 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 15001702300578a snp-1 5 rs2549782
dbSNP Clinvar 		96231000 5670.77 G T PASS 0/1 424 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.55272 0.55270 0.45902 1.00 0.00 0.13 None None None None None None ERAP2|0.036210068|67.06%
View 15001702300578a snp-1 5 rs41506651
dbSNP Clinvar 		96215680 4447.77 C T PASS 0/1 323 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.04872 0.04872 0.07966 None None None None None None ERAP2|0.036210068|67.06%

ERCC1
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 15001702300578a snp-1 19 rs11615
dbSNP Clinvar 		45923653 3527.77 A G PASS 1/1 109 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.66893 0.66890 0.45994 None None None None None None ERCC1|0.17437384|39.74%

ERN1
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 15001702300578a snp-1 17 rs196912
dbSNP Clinvar 		62121480 5039.77 T C PASS 1/1 151 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.58187 0.58190 0.38423 None None None None None None ERN1|0.1172536|47.89%

ESRRA
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 15001702300578a snp-1 11 rs80310817
dbSNP Clinvar 		64083331 919.77 C T PASS 0/1 86 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.02 0.98 5.06 None None None None None None ESRRA|0.285985685|28.66%
View 15001702300578a snp-1 11 rs72924126
dbSNP Clinvar 		64083252 570.77 T C PASS 0/1 114 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None ESRRA|0.285985685|28.66%

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 15001702300578a snp-1 1 rs4149909
dbSNP Clinvar 		242023898 3662.77 A G PASS 0/1 234 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.01258 0.01258 0.02468 0.00 0.96 5.73 None None None None None None EXO1|0.567140153|13.1%

FAM96A
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 15001702300578a snp-1 15 rs332259
dbSNP Clinvar 		64385851 1781.77 T C PASS 1/1 52 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.91693 0.91690 0.08765 None None None None None None FAM96A|0.609063314|11.48%

FASN
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 15001702300578a snp-1 17 rs2228309
dbSNP Clinvar 		80051183 818.77 A G PASS 0/1 79 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.39177 0.39180 0.45840 None None None None None None FASN|0.307148829|27.07%

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 15001702300578a snp-1 8 rs904011
dbSNP Clinvar 		11683653 10218.8 T C PASS 1/1 278 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.97504 0.97500 0.02630 None None None None None None FDFT1|0.104063444|50.39%
View 15001702300578a snp-1 8 rs8417
dbSNP Clinvar 		11667179 2037.77 C T PASS 0/1 145 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.23782 0.23780 0.16654 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 15001702300578a snp-1 10 rs1047100
dbSNP Clinvar 		123298158 11946.8 T C PASS 1/1 335 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.79533 0.79530 0.23328 None None None None None None FGFR2|0.998388411|0.5%

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 15001702300578a snp-1 11 rs202716
dbSNP Clinvar 		49196490 1284.77 T C PASS 0/1 121 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.41833 0.41830 None None None None None None FOLH1|0.065976588|58.36%

FSCN1
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 15001702300578a snp-1 7 rs1640233
dbSNP Clinvar 		5643145 1368.77 T C PASS 0/1 107 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.23822 0.23820 0.21644 None None None None None None FSCN1|0.380842493|21.98%