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+ Genes 343

Genes:
AATF, AATK, ABCA10, ABCA6, ABCA8, ABCC3, AC006435.1, AC061992.1, ACACA, ACBD4, ACE, ACSF2, ACTG1, AFMID, AKAP1, ALDH3A1, ALOXE3, AMZ2, AOC3, APOH, ARHGEF15, ARRB2, ARSG, ASB16, ASPA, ATAD5, ATP2A3, AZI1, B3GNTL1, B4GALNT2, B9D1, BAIAP2, BCAS3, BCL6B, BRCA1, C17orf100, C17orf47, C17orf66, C17orf74, C17orf77, C17orf80, CA10, CACNB1, CACNG1, CALCOCO2, CAMKK1, CAMTA2, CARD14, CCDC144A, CCDC40, CCDC57, CCT6B, CD300LD, CD300LF, CDC27, CDK12, CDRT1, CDRT4, CHAD, CHRNE, CLEC10A, CLUH, CNTNAP1, CNTROB, COASY, COPRS, COPS3, COX10, CSF3, CSHL1, CTC1, CWC25, CXCL16, DCAF7, DCAKD, DDX5, DHRS13, DHX33, DLG4, DNAH17, DNAH17-AS1, DNAH2, DNAH9, DPH1, EFCAB13, EFCAB5, EFTUD2, EIF4A1, ELAC2, EME1, ENGASE, ENTHD2, EPN2, EPN3, EPX, ERBB2, EVI2A, EVPL, FAM101B, FAM20A, FAM83G, FASN, FBXO39, FDXR, FN3K, FNDC8, FOXK2, FSCN2, FTSJ3, GAA, GAS2L2, GEMIN4, GFAP, GGT6, GID4, GIP, GIT1, GPATCH8, GPR142, GRIN2C, GSDMA, GSDMB, GSG2, HAP1, HEATR6, HELZ, HOXB1, HOXB13, HOXB3, IKZF3, ITGAE, ITGB3, KANSL1, KCNH6, KCNJ12, KIAA0195, KIAA0753, KIF18B, KIF19, KIF1C, KIF2B, KLHL11, KRT14, KRT15, KRT16, KRT19, KRT23, KRT25, KRT27, KRT28, KRT32, KRT34, KRT35, KRT36, KRT37, KRT38, KRT39, KRT9, KRTAP17-1, KRTAP4-1, KRTAP4-11, KRTAP4-16P, KRTAP4-3, KRTAP4-5, KRTAP4-6, KRTAP4-7, KRTAP4-8, KRTAP4-9, KRTAP9-1, KRTAP9-2, KRTAP9-4, KSR1, LLGL2, LRRC37B, MAP2K3, MAP2K6, MED24, MED9, METRNL, MFSD6L, MGAT5B, MIF4GD, MLX, MMP28, MPO, MPP3, MPRIP, MTMR4, MYH1, MYH10, MYH13, MYH2, MYH3, MYH4, MYH8, NAGS, NFE2L1, NLE1, NLGN2, NLK, NLRP1, NMT1, NOL11, NOS2, NPTX1, NSF, NSRP1, NUFIP2, NUP85, ODF4, OGFOD3, OR1D5, OR1E2, OR4D2, OSBPL7, OTOP2, OTOP3, P4HB, PCGF2, PER1, PFAS, PIK3R6, PITPNA, PITPNM3, PLD2, PLEKHH3, PLEKHM1, PNPO, POLDIP2, POLR2A, PRKAR1A, PSMC5, QRICH2, RABEP1, RAI1, RAP1GAP2, RECQL5, RNF157, RNF43, RNMTL1, RP11-1055B8.7, RP11-1407O15.2, RPA1, RPTOR, RSAD1, SCARF1, SCIMP, SCN4A, SDK2, SENP3, SERPINF1, SEZ6, SGCA, SGSH, SLC16A13, SLC16A5, SLC16A6, SLC25A19, SLC25A39, SLC2A4, SLC35B1, SLC35G6, SLC38A10, SLC43A2, SLC46A1, SLC52A1, SLC5A10, SLFN11, SLFN12, SLFN13, SMG6, SMG8, SMYD4, SNF8, SP2, SPAG5, SPAG7, SPAG9, SPATA22, SPECC1, SPHK1, SPNS3, SRCIN1, SSH2, STARD3, STXBP4, SYNGR2, TBC1D26, TBX21, TCAP, TEKT1, TEKT3, TEX14, TIMP2, TM4SF5, TMC6, TMC8, TMEM104, TMEM107, TMEM99, TNFRSF13B, TNFSF12, TNFSF12-TNFSF13, TNK1, TNRC6C, TNS4, TOP2A, TP53, TRIM16, TRPV2, TRPV3, TSEN54, TTLL6, TUBD1, TUBG2, TUSC5, UBBP4, UBE2O, UBE2Z, ULK2, UNK, USP36, USP6, VEZF1, VMO1, VPS53, VTN, WDR81, WIPI1, WRAP53, WSB1, WSCD1, XAF1, XYLT2, ZACN, ZBTB4, ZMYND15, ZNF286A, ZNF286B, ZNF594, ZNF624, ZNF750, ZPBP2,

+ Genes associated with diseases 76

Genes at Omim

ACACA, ACE, ACTG1, ALOXE3, ARSG, ASPA, B9D1, BRCA1, CARD14, CCDC40, CHRNE, CNTNAP1, COASY, COX10, CTC1, DNAH9, DPH1, EFTUD2, ELAC2, EPX, ERBB2, FAM20A, FDXR, FSCN2, GAA, GEMIN4, GFAP, HOXB1, HOXB13, ITGB3, KANSL1, KIAA0753, KIF1C, KRT14, KRT16, KRT25, KRT9, MPO, MYH2, MYH3, MYH8, NAGS, NLRP1, NUP85, P4HB, PITPNM3, PLEKHM1, PNPO, PRKAR1A, QRICH2, RAI1, RNF43, SCN4A, SERPINF1, SGCA, SGSH, SLC25A19, SLC46A1, SLC52A1, TBX21, TCAP, TEX14, TMC6, TMC8, TMEM107, TNFRSF13B, TOP2A, TP53, TRPV3, TSEN54, VPS53, WDR81, WRAP53, XYLT2, ZMYND15, ZNF750,
ACACA Acetyl-CoA carboxylase deficiency, 613933 (1)
ACE {Microvascular complications of diabetes 3}, 612624 (3)
{Myocardial infarction, susceptibility to} (3)
{SARS, progression of} (3)
{Stroke, hemorrhagic}, 614519 (3)
Renal tubular dysgenesis, 267430 (3)
[Angiotensin I-converting enzyme, benign serum increase] (3)
ACTG1 Baraitser-Winter syndrome 2, 614583 (3)
Deafness, autosomal dominant 20/26, 604717 (3)
ALOXE3 Ichthyosis, congenital, autosomal recessive 3, 606545 (3)
ARSG Usher syndrome, type IV, 618144 (3)
ASPA Canavan disease, 271900 (3)
B9D1 Joubert syndrome 27, 617120 (3)
?Meckel syndrome 9, 614209 (3)
BRCA1 Fanconi anemia, complementation group S, 617883 (3)
{Pancreatic cancer, susceptibility to, 4}, 614320 (3)
{Breast-ovarian cancer, familial, 1}, 604370 (3)
CARD14 Pityriasis rubra pilaris, 173200 (3)
Psoriasis 2, 602723 (3)
CCDC40 Ciliary dyskinesia, primary, 15, 613808 (3)
CHRNE Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3)
Myasthenic syndrome, congenital, 4B, fast-channel, 616324 (3)
Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 (3)
CNTNAP1 Hypomyelinating neuropathy, congenital, 3, 618186 (3)
Lethal congenital contracture syndrome 7, 616286 (3)
COASY Neurodegeneration with brain iron accumulation 6, 615643 (3)
Pontocerebellar hypoplasia, type 12, 618266 (3)
COX10 Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3)
Mitochondrial complex IV deficiency, 220110 (3)
CTC1 Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
DNAH9 Ciliary dyskinesia, primary, 40, 618300 (3)
DPH1 Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 (3)
EFTUD2 Mandibulofacial dysostosis, Guion-Almeida type, 610536 (3)
ELAC2 Combined oxidative phosphorylation deficiency 17, 615440 (3)
{Prostate cancer, hereditary, 2, susceptibility to}, 614731 (3)
EPX [Eosinophil peroxidase deficiency], 261500 (3)
ERBB2 Adenocarcinoma of lung, somatic, 211980 (3)
Gastric cancer, somatic, 613659 (3)
Glioblastoma, somatic, 137800 (3)
Ovarian cancer, somatic, (3)
FAM20A Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 (3)
FDXR Auditory neuropathy and optic atrophy, 617717 (3)
FSCN2 Retinitis pigmentosa 30, 607921 (3)
GAA Glycogen storage disease II, 232300 (3)
GEMIN4 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 (3)
GFAP Alexander disease, 203450 (3)
HOXB1 Facial paresis, hereditary congenital, 3, 614744 (3)
HOXB13 {Prostate cancer, hereditary, 9}, 610997 (3)
ITGB3 Glanzmann thrombasthenia, 273800 (3)
Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
Purpura, posttransfusion (3)
Thrombocytopenia, neonatal alloimmune (3)
KANSL1 Koolen-De Vries syndrome, 610443 (3)
KIAA0753 ?Orofaciodigital syndrome XV, 617127 (3)
KIF1C Spastic ataxia 2, autosomal recessive, 611302 (3)
KRT14 Dermatopathia pigmentosa reticularis, 125595 (3)
Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3)
Epidermolysis bullosa simplex, Koebner type, 131900 (3)
Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3)
Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Naegeli-Franceschetti-Jadassohn syndrome, 161000 (3)
KRT16 Pachyonychia congenita 1, 167200 (3)
Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3)
KRT25 Woolly hair, autosomal recessive 3, 616760 (3)
KRT9 Palmoplantar keratoderma, epidermolytic, 144200 (3)
MPO {Lung cancer, protection against, in smokers} (3)
Myeloperoxidase deficiency, 254600 (3)
{Alzheimer disease, susceptibility to}, 104300 (3)
MYH2 Proximal myopathy and ophthalmoplegia, 605637 (3)
MYH3 Arthrogryposis, distal, type 2A, 193700 (3)
Arthrogryposis, distal, type 2B, 601680 (3)
Arthrogryposis, distal, type 8, 178110 (3)
MYH8 Carney complex variant, 608837 (3)
Trismus-pseudocamptodactyly syndrome, 158300 (3)
NAGS N-acetylglutamate synthase deficiency, 237310 (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)
NUP85 Nephrotic syndrome, type 17, 618176 (3)
P4HB Cole-Carpenter syndrome 1, 112240 (3)
PITPNM3 Cone-rod dystrophy 5, 600977 (3)
PLEKHM1 Osteopetrosis, autosomal dominant 3, 618107 (3)
?Osteopetrosis, autosomal recessive 6, 611497 (3)
PNPO Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)
PRKAR1A Adrenocortical tumor, somatic, (3)
Carney complex, type 1, 160980 (3)
Acrodysostosis 1, with or without hormone resistance, 101800 (3)
Myxoma, intracardiac, 255960 (3)
Pigmented nodular adrenocortical disease, primary, 1, 610489 (3)
QRICH2 Spermatogenic failure 35, 618341 (3)
RAI1 Smith-Magenis syndrome, 182290 (3)
RNF43 Sessile serrated polyposis cancer syndrome, 617108 (3)
SCN4A Hyperkalemic periodic paralysis, type 2, 170500 (3)
Hypokalemic periodic paralysis, type 2, 613345 (3)
Myasthenic syndrome, congenital, 16, 614198 (3)
Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3)
Paramyotonia congenita, 168300 (3)
SERPINF1 Osteogenesis imperfecta, type VI, 613982 (3)
SGCA Muscular dystrophy, limb-girdle, autosomal recessive 3, 608099 (3)
SGSH Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 (3)
SLC25A19 Microcephaly, Amish type, 607196 (3)
Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3)
SLC46A1 Folate malabsorption, hereditary, 229050 (3)
SLC52A1 Riboflavin deficiency, 615026 (3)
TBX21 Asthma and nasal polyps, 208550 (3)
{Asthma, aspirin-induced, susceptibility to}, 208550 (3)
TCAP Cardiomyopathy, hypertrophic, 25, 607487 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 (3)
TEX14 ?Spermatogenic failure 23, 617707 (3)
TMC6 Epidermodysplasia verruciformis, 226400 (3)
TMC8 Epidermodysplasia verruciformis 2, 618231 (3)
TMEM107 Meckel syndrome 13, 617562 (3)
Orofaciodigital syndrome XVI, 617563 (3)
?Joubert syndrome 29, 617562 (3)
TNFRSF13B Immunodeficiency, common variable, 2, 240500 (3)
Immunoglobulin A deficiency 2, 609529 (3)
TOP2A DNA topoisomerase II, resistance to inhibition of, by amsacrine (3)
TP53 {Glioma susceptibility 1}, 137800 (3)
Bone marrow failure syndrome 5, 618165 (3)
Breast cancer, somatic, 114480 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
{Osteosarcoma}, 259500 (3)
Li-Fraumeni syndrome, 151623 (3)
Nasopharyngeal carcinoma, somatic, 607107 (3)
Pancreatic cancer, somatic 260350 (3)
{Adrenocortical carcinoma, pediatric}, 202300 (3)
{Basal cell carcinoma 7}, 614740 (3)
{Choroid plexus papilloma}, 260500 (3)
{Colorectal cancer}, 114500 (3)
TRPV3 Olmsted syndrome, 614594 (3)
?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3)
TSEN54 Pontocerebellar hypoplasia type 2A, 277470 (3)
Pontocerebellar hypoplasia type 4, 225753 (3)
?Pontocerebellar hypoplasia type 5, 610204 (3)
VPS53 Pontocerebellar hypoplasia, type 2E, 615851 (3)
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)
Hydrocephalus, congenital, 3, with brain anomalies, 617967 (3)
WRAP53 Dyskeratosis congenita, autosomal recessive 3, 613988 (3)
XYLT2 {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3)
Spondyloocular syndrome, 605822 (3)
ZMYND15 ?Spermatogenic failure 14, 615842 (3)
ZNF750 Seborrhea-like dermatitis with psoriasiform elements, 610227 (3)

Genes at Clinical Genomics Database

ACE, ACTG1, ALOXE3, ASPA, B9D1, BRCA1, CARD14, CCDC40, CHRNE, CNTNAP1, COASY, COX10, CTC1, DPH1, EFTUD2, ELAC2, EPX, FAM20A, FSCN2, GAA, GFAP, HOXB1, ITGB3, KANSL1, KIF1C, KRT14, KRT16, KRT25, KRT9, MPO, MYH2, MYH3, MYH8, NAGS, NLRP1, P4HB, PITPNM3, PLEKHM1, PNPO, PRKAR1A, RAI1, SCN4A, SERPINF1, SGCA, SGSH, SLC25A19, SLC46A1, SLC52A1, TCAP, TMC6, TMC8, TNFRSF13B, TP53, TRPV3, TSEN54, VPS53, WDR81, WRAP53, ZMYND15, ZNF750,
ACE Renal tubular dysgenesis
ACE serum levels
ACTG1 Deafness, autosomal dominant 20
Baraitser-Winter syndrome 2
ALOXE3 Ichthyosiform erythroderma, congenital, nonbullous, 1
ASPA Aspartoacylase deficiency (Canavan disease)
B9D1 Meckel syndrome 9
BRCA1 Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
CARD14 Psoriasis 2
CCDC40 Ciliary dyskinesia, primary, 15
CHRNE Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Myasthenic syndrome, fast-channel congenital
Myasthenic syndrome, slow-channel congenital
CNTNAP1 Lethal congenital contracture syndrome 7
COASY Neurodegeneration with brain iron accumulation 6
COX10 Mitochondrial complex IV deficiency
Leigh syndrome
CTC1 Cerebroretinal microangiopathy with calcifications and cysts
DPH1 Developmental delay with short stature, dysmorphic features, and sparse hair
EFTUD2 Mandibulofacial dysostosis, Guion-Almeida type
Esophageal atresia, syndromic
ELAC2 Combined oxidative phosphorylation deficiency 17
EPX Eosinophil peroxidase deficiency
FAM20A Amelogenesis imperfecta, type IG (Enamel-renal syndrome)
FSCN2 Retinitis pigmentosa 30
GAA Glycogen storage disease II
GFAP Alexander disease
HOXB1 Facial paresis, hereditary congenital, 3
ITGB3 Bleeding disorder, platelet-type, 16, autosomal dominant
Glanzmann thrombasthenia
Thrombocytopenia, neonatal alloimmune
KANSL1 Koolen-de Vries syndrom
KIF1C Spastic ataxia 2, autosomal recessive
KRT14 Epidermolysis bullosa simplex, autosomal recessive
Naegeli-Franceschetti-Jadassohn syndrome
Dermatopathia pigmentosa reticularis
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Weber-Cockayne type
Epidermolysis bullosa simplex, Dowling-Meara type
KRT16 Palmoplantar keratoderma, nonepidermolytic, focal
Pachyonychia congenita 1
KRT25 Woolly hair, autosomal recessive 3
KRT9 Palmoplantar keratoderma, epidermolytic
Knuckle pads
MPO Myeloperoxidase deficiency
MYH2 Inclusion body myopathy 3
MYH3 Arthrogryposis, distal, type 2A
Arthyrgryposis, distal, type 2B
Arthrogryposis, distal, type 8
MYH8 Carney complex variant
Arthrogryposis, distal, type 7
Trismus-pseudocamptodactyly syndrome
NAGS N-acetylglutamate synthase deficiency
NLRP1 Corneal intraepithelial dyskeratosis and ectodermal dysplasia
P4HB Cole Carpenter syndrome 1
PITPNM3 Cone-rod dystrophy 5
PLEKHM1 Osteopetrosis, autosomal recessive 6
PNPO Individuals may manifest with severe seizures starting in the immediate neonatal period (or even before birth), and medical treatment (with pyridoxine) can be effective as an antiepileptic agent
PRKAR1A Pigmented nodular adrenocortical disease, primary, 1
Carney complex, type 1
Myxoma, intracardiac
Acrodysostosis 1, with or without hormone resistance
RAI1 Smith-Magenis syndrome
SCN4A Paramyotonia congenita
Hyperkalemic periodic paralysis, type 2
Hypokalemic periodic paralysis, type 2
Normokalemic potassium-sensitive periodic paralysis
Malignant hyperthermia, susceptibility to
Myasthenic syndrome, congenital, 16
Myotonia, potassium-aggravated
SERPINF1 Osteogenesis imperfecta, type VI
SGCA Muscular dystrophy, limb-girdle, type 2D
SGSH Mucopolysaccharidosis type IIIA (Sanfilippo syndrome A)
SLC25A19 Thiamine metabolism dysfunction syndrome 4
Microcephaly, Amish type
SLC46A1 Folate malabsorption, hereditary
SLC52A1 Maternal riboflavin deficiency
TCAP Cardiomyopathy, dilated, 1N
Cardiomyopathy, familial hypertrophic 25
Muscular dystrophy, limb-girdle, type 2G
TMC6 Epidermodysplasia verruciformis
TMC8 Epidermodysplasia verruciformis
TNFRSF13B Immunoglobulin A deficiency 2
Common variable immunodeficiency 2
TP53 Li-Fraumeni syndrome
Choroid plexus papilloma
Ependymoma, intracranial
Osteogenic sarcoma
Breast cancer, familial
Hepatoblastoma
Non-Hodgkin lymphoma
Adrenocortical carcinoma
Colorectal cancer
TRPV3 Olmsted syndrome
Palmoplantar keratoderma, nonepidermolytic focal 2
TSEN54 Pontocerebellar hypoplasia, type 2A
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
VPS53 Pontocerebellar hypoplasia, type 2E
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
WRAP53 Dyskeratosis congenita, autosomal recessive 3
ZMYND15 Spermatogenic failure 14
ZNF750 Seborrhea-like dermatitis with psoriasiform elements

Genes at HGMD

Summary

Number of Variants: 2063
Number of Genes: 343

Export to: CSV

AATF
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 cmt4 17 rs1045056
dbSNP Clinvar 		35346641 2178.9 T C PASS 0/1 149 SYNONYMOUS_CODING LOW None 0.15675 0.15670 0.24273 None None None None None None AATF|0.980408321|1.45%

AATK
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 cmt4 17 rs8073904
dbSNP Clinvar 		79095144 110.12 G A PASS 0/1 14 SYNONYMOUS_CODING LOW None 0.80531 0.80530 0.14925 None None None None None None AATK|0.00450864|86.39%

ABCA10
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 cmt4 17 rs9909216
dbSNP Clinvar 		67212423 1170.68 G A PASS 0/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.58067 0.58070 0.34515 0.03 0.03 None None None None None None ABCA10|0.002179826|90.49%
View cmt4 17 rs11077414
dbSNP Clinvar 		67212031 667.65 A G PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.06470 0.47140 0.42465 None None None None None None ABCA10|0.002179826|90.49%
View cmt4 17 rs4968849
dbSNP Clinvar 		67178316 204.25 A G PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.71126 0.71130 0.24304 1.00 0.00 None None None None None None ABCA10|0.002179826|90.49%
View cmt4 17 rs11657804
dbSNP Clinvar 		67210992 172.02 T C PASS 0/1 18 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.26158 0.26160 0.29885 0.30 0.16 None None None None None None ABCA10|0.002179826|90.49%
View cmt4 17 rs12941264
dbSNP Clinvar 		67215712 461.88 C T PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.59844 0.59840 0.32759 None None None None None None ABCA10|0.002179826|90.49%

ABCA6
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 cmt4 17 rs2302134
dbSNP Clinvar 		67081830 297.36 T C PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.45986 0.45990 0.48539 0.16 0.05 None None None None None None ABCA6|0.006278632|84.32%
View cmt4 17 rs4968839
dbSNP Clinvar 		67125840 372.66 C T PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.55511 0.55510 0.40099 0.35 0.00 None None None None None None ABCA6|0.006278632|84.32%
View cmt4 17 rs138479597
dbSNP Clinvar 		67111065 349.75 G A PASS 0/1 20 SYNONYMOUS_CODING LOW None 0.00140 0.00140 0.00484 None None None None None None ABCA6|0.006278632|84.32%

ABCA8
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 cmt4 17 rs8068987
dbSNP Clinvar 		66873743 1679.7 G A PASS 0/1 117 SYNONYMOUS_CODING LOW None 0.15455 0.15460 0.14647 None None None None None None ABCA8|0.008754907|81.9%

ABCC3
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 cmt4 17 rs2277624
dbSNP Clinvar 		48761105 435.09 C T PASS 0/1 43 SYNONYMOUS_CODING LOW None 0.28694 0.28690 0.26465 None None None None None None ABCC3|0.044769991|64.26%
View cmt4 17 rs1051640
dbSNP Clinvar 		48768486 379.97 A G PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.10403 0.10400 0.14639 None None None None None None ABCC3|0.044769991|64.26%

AC006435.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cmt4 17 rs4613098
dbSNP Clinvar 		2318550 947.52 G C PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.46166 0.46170 0.37496 0.00 None None None None None None METTL16|0.27183769|29.76%

AC061992.1
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 cmt4 17 rs72914883
dbSNP Clinvar 		76422815 68.41 A G PASS 0/1 5 NON_SYNONYMOUS_CODING MODERATE None 0.13139 0.13140 0.00 None None None None None None DNAH17|0.043900967|64.55%

ACACA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cmt4 17 rs1470452
dbSNP Clinvar 		35478362 2160.59 T C PASS 1/1 76 SYNONYMOUS_CODING LOW None 1.00000 1.00000 0.00108 None None None None None None ACACA|0.94269074|2.39%

ACBD4
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 cmt4 17 rs16939879
dbSNP Clinvar 		43216472 236.85 A G PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.08826 0.08826 0.10269 0.25 0.00 None None None None None None ACBD4|0.054594192|61.31%

ACE
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 cmt4 17 rs4331
dbSNP Clinvar 		61564052 257.19 A G PASS 0/1 35 SYNONYMOUS_CODING LOW None 0.52955 0.52960 0.44326 None None None None None None ACE|0.894558224|3.56%
View cmt4 17 rs4362
dbSNP Clinvar 		61573761 756.14 T C PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.58746 0.58750 0.49470 None None None None None None ACE|0.894558224|3.56%
View cmt4 17 rs4309
dbSNP Clinvar 		61559923 651.56 C T PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.42352 0.42350 0.33569 None None None None None None ACE|0.894558224|3.56%
View cmt4 17 rs4343
dbSNP Clinvar 		61566031 728.0 G A PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.64317 0.64320 0.43987 None None None None None None ACE|0.894558224|3.56%

ACSF2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cmt4 17 rs2305998
dbSNP Clinvar 		48549791 61.52 C G PASS 0/1 10 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.18570 0.18570 0.24427 None None None None None None ACSF2|0.036236332|67.04%
View cmt4 17 rs9674937
dbSNP Clinvar 		48539035 475.09 T C PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.34405 0.34400 0.37667 None None None None None None ACSF2|0.036236332|67.04%

ACTG1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cmt4 17 rs1135989
dbSNP Clinvar 		79478007 600.83 G A PASS 0/1 61 SYNONYMOUS_CODING LOW None 0.18530 0.18530 0.31639 None None None None None None ACTG1|0.983116739|1.38%
View cmt4 17 rs1139405
dbSNP Clinvar 		79478019 689.94 G A PASS 0/1 69 SYNONYMOUS_CODING LOW None 0.75619 0.75620 0.24543 None None None None None None ACTG1|0.983116739|1.38%

AFMID
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 cmt4 17 rs72897843
dbSNP Clinvar 		76200965 425.97 C T PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.03914 0.03914 0.07235 0.00 0.91 None None None None None None AFMID|0.002123671|90.66%
View cmt4 17 rs72897838
dbSNP Clinvar 		76198587 179.41 A G PASS 0/1 28 SYNONYMOUS_CODING LOW None 0.05990 0.05990 0.09503 None None None None None None AFMID|0.002123671|90.66%

AKAP1
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 cmt4 17 rs2230772
dbSNP Clinvar 		55183203 541.12 T C PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.47824 0.47820 0.39136 None None None None None None AKAP1|0.039700237|65.85%
View cmt4 17 rs61751974
dbSNP Clinvar 		55191888 341.71 C T PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.00899 0.00899 0.00584 None None None None None None AKAP1|0.039700237|65.85%
View cmt4 17 rs34535433
dbSNP Clinvar 		55183813 574.14 A G PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.07448 0.07448 0.07 0.00 None None None None None None AKAP1|0.039700237|65.85%
View cmt4 17 rs35359994
dbSNP Clinvar 		55183792 647.84 G A PASS 0/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.04832 0.04832 0.05305 0.11 0.00 None None None None None None AKAP1|0.039700237|65.85%
View cmt4 17 rs17761023
dbSNP Clinvar 		55182878 464.43 C T PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.06090 0.06090 0.09096 0.02 0.20 None None None None None None AKAP1|0.039700237|65.85%

ALDH3A1
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 cmt4 17 rs2072330
dbSNP Clinvar 		19644472 309.67 A T PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.29074 0.29070 0.30186 None None None None None None ALDH3A1|0.032163878|68.52%
View cmt4 17 rs887241
dbSNP Clinvar 		19645938 410.31 A C PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.74461 0.74460 0.34669 0.88 0.00 None None None None None None ALDH3A1|0.032163878|68.52%

ALOXE3
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 cmt4 17 rs3809881
dbSNP Clinvar 		7999957 733.64 G A PASS 0/1 61 SYNONYMOUS_CODING LOW None 0.42472 0.42470 0.36845 None None None None None None ALOXE3|0.073088496|56.77%

AMZ2
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 cmt4 17 rs3213690
dbSNP Clinvar 		66246416 752.34 A G PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.79792 0.79790 0.24127 1.00 0.00 None None None None None None AMZ2|0.012004494|79.24%

AOC3
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 cmt4 17 rs33986943
dbSNP Clinvar 		41004637 446.05 G A PASS 0/1 47 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.04832 0.04832 0.07450 0.38 0.00 None None None None None None AOC3|0.087399951|53.73%

APOH
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 cmt4 17 rs4581
dbSNP Clinvar 		64210757 645.29 C A PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.54153 0.54150 0.32969 0.69 0.00 None None None None None None APOH|0.076233012|56.02%
View cmt4 17 rs1801692
dbSNP Clinvar 		64222164 356.24 C T PASS 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.02895 0.02895 0.03529 0.54 0.00 None None None None None None APOH|0.076233012|56.02%

ARHGEF15
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 cmt4 17 rs871841
dbSNP Clinvar 		8216468 1511.63 T C PASS 1/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.62101 0.62100 0.43657 1.00 0.00 None None None None None None ARHGEF15|0.03636471|66.99%
View cmt4 17 rs3744651
dbSNP Clinvar 		8215534 523.13 C T PASS 0/1 44 SYNONYMOUS_CODING LOW None 0.41693 0.41690 0.34769 None None None None None None ARHGEF15|0.03636471|66.99%

ARRB2
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 cmt4 17 rs1045280
dbSNP Clinvar 		4622638 622.42 C T PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.66953 0.66950 0.40051 None None None None None None ARRB2|0.726219786|7.8%

ARSG
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 cmt4 17 rs1558876
dbSNP Clinvar 		66364691 310.72 C G PASS 0/1 43 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.27596 0.27600 0.36545 0.70 0.00 None None None None None None ARSG|0.038924858|66.13%
View cmt4 17 rs1558878
dbSNP Clinvar 		66364804 702.8 T C PASS 0/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.35943 0.35940 0.44595 1.00 0.00 None None None None None None ARSG|0.038924858|66.13%
View cmt4 17 rs1558877
dbSNP Clinvar 		66364749 526.08 T C PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.51138 0.51140 0.43964 None None None None None None ARSG|0.038924858|66.13%

ASB16
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cmt4 17 rs7218599
dbSNP Clinvar 		42248346 162.93 A T PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.92652 0.92650 0.10149 0.07 0.00 None None None None None None ASB16|0.091388506|52.96%

ASPA
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 cmt4 17 rs12948217
dbSNP Clinvar 		3397702 1212.19 C T PASS 0/1 111 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.20367 0.20370 0.28925 3.49 0.00 0.03575 T None None None None SPATA22|0.048389783|63.17%,ASPA|0.191557197|37.65%

ATAD5
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 cmt4 17 rs11080134
dbSNP Clinvar 		29161503 870.75 A G PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.15156 0.15160 0.26258 0.05 0.03 None None None None None None ATAD5|0.264597723|30.33%

ATP2A3
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 cmt4 17 rs1800912
dbSNP Clinvar 		3844787 1053.79 C G PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.14796 0.14800 0.22282 None None None None None None ATP2A3|0.0615045|59.44%
View cmt4 17 rs758641
dbSNP Clinvar 		3846802 1215.21 A G PASS 0/1 115 SYNONYMOUS_CODING LOW None 0.33327 0.33330 0.43911 None None None None None None ATP2A3|0.0615045|59.44%
View cmt4 17 rs17846889
dbSNP Clinvar 		3845927 247.98 A G PASS 0/1 21 SYNONYMOUS_CODING LOW None 0.38478 0.38480 0.49716 None None None None None None ATP2A3|0.0615045|59.44%

AZI1
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 cmt4 17 rs765497684
dbSNP Clinvar 		79164752 251.55 C T PASS 0/1 16 SYNONYMOUS_CODING LOW None None None None None None None CEP131|0.010879041|80.18%
View cmt4 17 rs61741549
dbSNP Clinvar 		79169670 366.87 C T PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.01757 0.01757 0.01746 0.91 0.06 None None None None None None CEP131|0.010879041|80.18%
View cmt4 17 rs62075318
dbSNP Clinvar 		79182778 175.39 T C PASS 0/1 16 SYNONYMOUS_CODING LOW None 0.41853 0.41850 0.34623 None None None None None None CEP131|0.010879041|80.18%
View cmt4 17 rs2292182
dbSNP Clinvar 		79163649 878.78 G A PASS 0/1 65 None None None 0.20228 0.20230 0.20091 None None None None None None CEP131|0.010879041|80.18%

B3GNTL1
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 cmt4 17 rs1143006
dbSNP Clinvar 		81006387 576.13 G A PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.28554 0.28550 0.26549 None None None None None None B3GNTL1|0.011137192|79.94%
View cmt4 17 rs7406119
dbSNP Clinvar 		81006629 607.71 C T PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.19329 0.19330 0.22774 None None None None None None B3GNTL1|0.011137192|79.94%
View cmt4 17 rs16940609
dbSNP Clinvar 		80992932 435.73 A C PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.17452 0.17450 0.21321 None None None None None None B3GNTL1|0.011137192|79.94%

B4GALNT2
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 cmt4 17 rs117575112
dbSNP Clinvar 		47210469 103.3 G A PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.05591 0.05591 0.04676 0.02 0.31 None None None None None None B4GALNT2|0.038585126|66.26%

B9D1
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 cmt4 17 rs4924987
dbSNP Clinvar 		19247075 272.75 G A PASS 0/1 16 NON_SYNONYMOUS_CODING MODERATE None 0.31050 0.31050 0.40043 0.09 0.00 None None None None None None B9D1|0.081015319|54.99%

BAIAP2
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 cmt4 17 rs4969391
dbSNP Clinvar 		79089590 358.41 A G PASS 0/1 38 None None None 0.17232 0.17230 0.14193 0.68 0.22 None None None None None None BAIAP2|0.184038679|38.48%

BCAS3
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 cmt4 17 rs34431714
dbSNP Clinvar 		58824617 1039.43 G A PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.00919 0.00919 0.01945 0.05 0.99 None None None None None None BCAS3|0.982431939|1.39%

BCL6B
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 cmt4 17 rs146207245,rs72254884
dbSNP Clinvar 		6928019 253.81 C CCAG PASS 1/1 12 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.66234 0.66230 None None None None None None BCL6B|0.213572706|35.16%

BRCA1
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 cmt4 17 rs799917
dbSNP Clinvar 		41244936 580.02 G A PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.54393 0.54390 0.49316 1.00 0.00 None None None None None None BRCA1|0.986984945|1.2%
View cmt4 17 rs1799949
dbSNP Clinvar 		41245466 666.55 G A PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.33646 0.33650 0.29568 None None None None None None BRCA1|0.986984945|1.2%
View cmt4 17 rs16941
dbSNP Clinvar 		41244435 816.85 T C PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.33566 0.33570 0.27903 0.17 0.45 None None None None None None BRCA1|0.986984945|1.2%
View cmt4 17 rs16942
dbSNP Clinvar 		41244000 154.02 T C PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.35264 0.35260 0.29525 1.00 0.01 None None None None None None BRCA1|0.986984945|1.2%
View cmt4 17 rs1060915
dbSNP Clinvar 		41234470 1526.25 A G PASS 0/1 126 SYNONYMOUS_CODING LOW None 0.33626 0.33630 0.27956 None None None None None None BRCA1|0.986984945|1.2%
View cmt4 17 rs1799966
dbSNP Clinvar 		41223094 800.48 T C PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.35583 0.35580 0.29817 0.12 0.01 None None None None None None BRCA1|0.986984945|1.2%
View cmt4 17 rs16940
dbSNP Clinvar 		41245237 1297.47 A G PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.33526 0.33530 0.27764 None None None None None None BRCA1|0.986984945|1.2%

C17orf100
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 cmt4 17 rs56268735,rs397697335
dbSNP Clinvar 		6555546 303.65 C CG PASS 1/1 8 FRAME_SHIFT HIGH None 0.99980 0.99980 0.00401 None None None None None None C17orf100|0.00636282|84.22%

C17orf47
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 cmt4 17 rs8071623
dbSNP Clinvar 		56621286 280.03 G T PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.89637 0.89640 0.17607 1.00 0.00 None None None None None None C17orf47|0.004415017|86.48%
View cmt4 17 rs6503867
dbSNP Clinvar 		56621359 386.54 T C PASS 0/1 36 SYNONYMOUS_CODING LOW None 0.91034 0.91030 0.16162 None None None None None None C17orf47|0.004415017|86.48%

C17orf66
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 cmt4 17 rs115641363
dbSNP Clinvar 		34190069 591.71 C A PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.00280 0.00280 0.00461 0.24 0.31 None None None None None None None

C17orf74
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 cmt4 17 rs13290
dbSNP Clinvar 		7329632 812.88 T G PASS 0/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.00100 0.45499 0.01 0.47 None None None None None None C17orf74|0.006445905|84.13%

C17orf77
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 cmt4 17 rs545652
dbSNP Clinvar 		72588806 479.79 C A PASS 0/1 41 STOP_GAINED HIGH None 0.22364 0.22360 0.26557 None None None None None None C17orf77|0.000167879|99.83%
View cmt4 17 rs493430
dbSNP Clinvar 		72588326 1120.2 A C PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.67432 0.67430 0.28495 1.00 0.00 None None None None None None CD300LD|0.000702274|97.23%,C17orf77|0.000167879|99.83%

C17orf80
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 cmt4 17 rs1566290
dbSNP Clinvar 		71239087 335.28 G T PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.22025 0.22020 0.27318 None None None None None None C17orf80|0.001436401|93.13%

CA10
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 cmt4 17 rs11870209
dbSNP Clinvar 		49713300 247.04 G A PASS 0/1 20 SYNONYMOUS_CODING LOW None 0.36402 0.36400 0.41489 None None None None None None CA10|0.86384685|4.4%

CACNB1
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 cmt4 17 rs78894589
dbSNP Clinvar 		37340336 384.24 G A PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.00459 0.00459 0.01338 None None None None None None CACNB1|0.341929478|24.7%

CACNG1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cmt4 17 rs1799938
dbSNP Clinvar 		65052304 594.68 G A PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.09445 0.09445 0.08442 0.04 0.45 None None None None None None CACNG1|0.069477058|57.59%

CALCOCO2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cmt4 17 rs10278
dbSNP Clinvar 		46939658 266.16 C G PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.31339 0.50 0.01 None None None None None None CALCOCO2|0.090951981|53.05%
View cmt4 17 rs550510
dbSNP Clinvar 		46926615 718.48 G A PASS 0/1 52 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.24321 0.24320 0.10534 0.14 0.35 None None None None None None CALCOCO2|0.090951981|53.05%

CAMKK1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cmt4 17 rs7214864
dbSNP Clinvar 		3775916 394.58 T C PASS 0/1 31 SYNONYMOUS_CODING LOW None 0.62919 0.62920 0.29386 None None None None None None CAMKK1|0.110934351|49.01%

CAMTA2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cmt4 17 rs238234
dbSNP Clinvar 		4883818 189.08 C G PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.71865 0.71870 0.15050 1.00 0.00 None None None None None None CAMTA2|0.198423444|36.88%
View cmt4 17 rs16942615
dbSNP Clinvar 		4875628 284.78 A G PASS 0/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.09125 0.09125 0.08919 0.38 0.00 None None None None None None CAMTA2|0.198423444|36.88%

CARD14
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cmt4 17 rs34367357
dbSNP Clinvar 		78172292 278.27 G A PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.07808 0.07808 0.05637 0.67 0.00 None None None None None None CARD14|0.016890899|75.93%
View cmt4 17 rs2066964
dbSNP Clinvar 		78171944 1185.35 G C PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.37021 0.37020 0.35914 0.84 0.00 None None None None None None CARD14|0.016890899|75.93%
View cmt4 17 rs11658460
dbSNP Clinvar 		78166385 314.67 C T PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.12141 0.12140 0.10203 None None None None None None CARD14|0.016890899|75.93%

CCDC144A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cmt4 17 rs2349265
dbSNP Clinvar 		16593798 162.09 C T PASS 0/1 23 SYNONYMOUS_CODING LOW None 0.05312 0.05312 0.09565 None None None None None None CCDC144A|0.002171352|90.51%

CCDC40
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cmt4 17 rs2304854
dbSNP Clinvar 		78073562 220.39 A G PASS 0/1 15 SYNONYMOUS_CODING LOW None 0.50160 0.50160 0.49195 None None None None None None CCDC40|0.000987297|95.52%
View cmt4 17 rs61740509
dbSNP Clinvar 		78073485 314.08 G A PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.01338 0.01338 0.00200 0.03 0.84 None None None None None None CCDC40|0.000987297|95.52%
View cmt4 17 rs12952612
dbSNP Clinvar 		78071052 1023.52 T C PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.71426 0.71430 0.26281 None None None None None None CCDC40|0.000987297|95.52%

CCDC57
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cmt4 17 rs11653797
dbSNP Clinvar 		80159665 455.89 G A PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.11102 0.11100 0.17983 None None None None None None CCDC57|0.000772577|96.85%
View cmt4 17 rs8072670
dbSNP Clinvar 		80159566 716.28 T C PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.82348 0.82350 0.25043 None None None None None None CCDC57|0.000772577|96.85%
View cmt4 17 rs61735692
dbSNP Clinvar 		80059690 50.3 G A PASS 0/1 6 SYNONYMOUS_CODING LOW None 0.01378 0.01378 0.03729 0.00 None None None None None None CCDC57|0.000772577|96.85%

CCT6B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cmt4 17 rs2230553
dbSNP Clinvar 		33269648 108.02 C G PASS 0/1 7 NON_SYNONYMOUS_CODING MODERATE None 0.24321 0.24320 0.30163 0.04 0.25 None None None None None None CCT6B|0.170692374|40.2%
View cmt4 17 rs2230552
dbSNP Clinvar 		33286664 336.15 A G PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.29094 0.29090 0.18269 0.02 0.95 None None None None None None CCT6B|0.170692374|40.2%

CD300LD
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cmt4 17 rs783239
dbSNP Clinvar 		72584764 1236.2 C T PASS 0/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.34245 0.34250 0.32097 0.11 0.05 None None None None None None CD300LD|0.000702274|97.23%,C17orf77|0.000167879|99.83%

CD300LF
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 cmt4 17 rs2034310
dbSNP Clinvar 		72691928 517.9 T C PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.70507 0.70510 0.24412 0.46 0.00 None None None None None None RAB37|0.151870937|42.7%,CD300LF|0.000601908|97.94%