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+ Genes 156

+ Genes associated with diseases 37

Genes at Omim

AFG3L2, APCDD1, ATP5A1, ATP8B1, CCDC11, CTDP1, DCC, DSC3, DSG1, DSG2, DSG4, EPG5, FECH, GNAL, GREB1L, LAMA1, LAMA3, LMAN1, LOXHD1, MOCOS, MYO5B, NDUFV2, NEDD4L, NPC1, NPC1, PIEZO2, PIGN, RTTN, SERPINB8, SETBP1, SLC14A1, SMAD4, SMCHD1, TAF4B, TCF4, TNFRSF11A, TSHZ1,
AFG3L2 Spastic ataxia 5, autosomal recessive, 614487 (3)
Spinocerebellar ataxia 28, 610246 (3)
APCDD1 Hypotrichosis 1, 605389 (3)
ATP5A1 ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228 (3)
?Combined oxidative phosphorylation deficiency 22, 616045 (3)
ATP8B1 Cholestasis, benign recurrent intrahepatic, 243300 (3)
Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3)
Cholestasis, progressive familial intrahepatic 1, 211600 (3)
CCDC11 Heterotaxy, visceral, 6, autosomal recessive, 614779 (3)
CTDP1 Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3)
DCC Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 (3)
Colorectal cancer, somatic, 114500 (3)
Esophageal carcinoma, somatic, 133239 (3)
Mirror movements 1 and/or agenesis of the corpus callosum, 157600 (3)
DSC3 ?Hypotrichosis and recurrent skin vesicles, 613102 (3)
DSG1 Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 (3)
Keratosis palmoplantaris striata I, AD, 148700 (3)
DSG2 Arrhythmogenic right ventricular dysplasia 10, 610193 (3)
Cardiomyopathy, dilated, 1BB, 612877 (3)
DSG4 Hypotrichosis 6, 607903 (3)
EPG5 Vici syndrome, 242840 (3)
FECH Protoporphyria, erythropoietic, 1, 177000 (3)
GNAL Dystonia 25, 615073 (3)
GREB1L Renal hypodysplasia/aplasia 3, 617805 (3)
LAMA1 Poretti-Boltshauser syndrome, 615960 (3)
LAMA3 Epidermolysis bullosa, generalized atrophic benign, 226650 (3)
Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Laryngoonychocutaneous syndrome, 245660 (3)
LMAN1 Combined factor V and VIII deficiency, 227300 (3)
LOXHD1 Deafness, autosomal recessive 77, 613079 (3)
MOCOS Xanthinuria, type II, 603592 (3)
MYO5B Microvillus inclusion disease, 251850 (3)
NDUFV2 Mitochondrial complex I deficiency, nuclear type 7, 618229 (3)
NEDD4L Periventricular nodular heterotopia 7, 617201 (3)
NPC1 {Nasopharyngeal carcinoma 1} (2)
NPC1 Niemann-Pick disease, type C1, 257220 (3)
Niemann-Pick disease, type D, 257220 (3)
PIEZO2 Arthrogryposis, distal, type 3, 114300 (3)
Arthrogryposis, distal, type 5, 108145 (3)
Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3)
?Marden-Walker syndrome, 248700 (3)
PIGN Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)
RTTN Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3)
SERPINB8 Peeling skin syndrome 5, 617115 (3)
SETBP1 Mental retardation, autosomal dominant 29, 616078 (3)
Schinzel-Giedion midface retraction syndrome, 269150 (3)
SLC14A1 [Blood group, Kidd], 111000 (3)
SMAD4 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 (3)
Myhre syndrome, 139210 (3)
Pancreatic cancer, somatic, 260350 (3)
Polyposis, juvenile intestinal, 174900 (3)
SMCHD1 Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 (3)
Bosma arhinia microphthalmia syndrome, 603457 (3)
TAF4B ?Spermatogenic failure 13, 615841 (3)
TCF4 Corneal dystrophy, Fuchs endothelial, 3, 613267 (3)
Pitt-Hopkins syndrome, 610954 (3)
TNFRSF11A {Paget disease of bone 2, early-onset}, 602080 (3)
Osteolysis, familial expansile, 174810 (3)
Osteopetrosis, autosomal recessive 7, 612301 (3)
TSHZ1 Aural atresia, congenital, 607842 (3)

Genes at Clinical Genomics Database

AFG3L2, APCDD1, ATP5A1, ATP8B1, CTDP1, DCC, DSC3, DSG1, DSG2, DSG4, EPG5, FECH, GNAL, LAMA1, LAMA3, LMAN1, LOXHD1, MYO5B, NDUFV2, NPC1, PIEZO2, PIGN, RTTN, SETBP1, SLC14A1, SMAD4, SMCHD1, TAF4B, TCF4, TNFRSF11A, TSHZ1,
AFG3L2 Spinocerebellar ataxia 28
Spastic ataxia 5, autosomal recessive
APCDD1 Hypotrichosis 1
ATP5A1 Combined oxidative phosphorylation deficiency 22
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4
ATP8B1 Familial intrahepatic cholestasis, recurrent
Cholestasis, progressive familial intrahepatic 1
Intrahepatic cholestasis of pregnancy
CTDP1 Congenital cataracts, facial dysmorphism, and neuropathy
DCC Mirror movements 1
DSC3 Hypotrichosis and recurrent skin vesicles
DSG1 Severe dermatitis, multiple allergies, and metabolic wasting syndrome (SAM syndrome)
DSG2 Cardiomyopathy, dilated, 1BB
Arrhythmogenic right ventricular dysplasia, familial, 10
DSG4 Hypotrichosis 6
EPG5 Vici syndrome
FECH Protoporphyria, erythropoietic
GNAL Primary torsion dystonia
LAMA1 Poretti-Boltshauser syndrome
LAMA3 Laryngoonychocutaneous syndrome
Epidermolysis bullosa, junctional, Herlitz type
Epidermolysis bullosa, generalized atrophic benign
LMAN1 Combined factor V and VIII deficiency
LOXHD1 Deafness, autosomal recessive 77
MYO5B Diarrhea 2, with microvillus atrophy
NDUFV2 Mitochondrial complex I deficiency
NPC1 Niemann-Pick disease, type C1
Niemann-Pick disease, type D
PIEZO2 Distal arthrogryposis type 3
Distal arthrogryposis type 5
Marden-Walker syndrome
PIGN Multiple congenital anomalies-hypotonia-seizures syndrome 1
RTTN Microcephaly, short stature, and polymicrogyria with or without seizures
SETBP1 Mental retardation, autosomal dominant 29
Schinzel-Giedion midface retraction syndrome
SLC14A1 Blood group, Kidd
SMAD4 Hereditary hemorrhagic telangiectasia, type 1
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Polyposis, juvenile intestinal
Myhre syndrome
SMCHD1 Facioscapulohumeral muscular dystrophy, type 2
TAF4B Spermatogenic failure 13
TCF4 Corneal dystrophy, Fuchs endothelial, 3
Pitt-Hopkins syndrome
TNFRSF11A Familial expansile osteolysis
Paget disease of bone 2, early-onset
Osteopetrosis, autosomal recessive 7
TSHZ1 Aural atresia, congenital

Genes at HGMD

Summary

Number of Variants: 3051
Number of Genes: 156

Export to: CSV

AC012123.1
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 combined sample_42.variant6 18 rs200605696
dbSNP Clinvar 		30352057 4598.56 GC... G PASS 1/1 130 FRAME_SHIFT HIGH None None None None None None None KLHL14|0.473561671|17.04%
View combined sample_42.variant6 18 rs71366355
dbSNP Clinvar 		30352114 2181.02 C G PASS 1/1 199 SYNONYMOUS_CODING LOW None 0.20587 0.20590 None None None None None None KLHL14|0.473561671|17.04%

ADCYAP1
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 combined sample_42.variant6 18 rs8192597
dbSNP Clinvar 		907675 1069.05 G A PASS 0/1 170 SYNONYMOUS_CODING LOW None 0.70208 0.70210 0.34802 None None None None None None ADCYAP1|0.147854671|43.32%
View combined sample_42.variant6 18 rs2856966
dbSNP Clinvar 		907710 1516.49 A G PASS 0/1 143 NON_SYNONYMOUS_CODING MODERATE None 0.14397 0.14400 0.17116 0.27 0.00 None None None None None None ADCYAP1|0.147854671|43.32%

ADNP2
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 combined sample_42.variant6 18 rs3744877
dbSNP Clinvar 		77894844 5227.48 G A PASS 0/1 151 SYNONYMOUS_CODING LOW None 0.41873 0.41870 0.38413 None None None None None None ADNP2|0.014262869|77.65%
View combined sample_42.variant6 18 rs3826595
dbSNP Clinvar 		77896242 1803.44 C T PASS 0/1 110 SYNONYMOUS_CODING LOW None 0.29393 0.29390 0.12133 None None None None None None ADNP2|0.014262869|77.65%
View combined sample_42.variant6 18 rs3744878
dbSNP Clinvar 		77895192 2328.42 G A PASS 0/1 163 SYNONYMOUS_CODING LOW None 0.10963 0.10960 0.14793 None None None None None None ADNP2|0.014262869|77.65%
View combined sample_42.variant6 18 rs1064058
dbSNP Clinvar 		77891039 755.75 T A PASS 0/1 44 SYNONYMOUS_CODING LOW None 0.12500 0.12500 0.18176 None None None None None None ADNP2|0.014262869|77.65%
View combined sample_42.variant6 18 rs1064059
dbSNP Clinvar 		77893683 2179.5 A G PASS 0/1 129 SYNONYMOUS_CODING LOW None 0.12480 0.12480 0.18192 None None None None None None ADNP2|0.014262869|77.65%

AFG3L2
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 combined sample_42.variant6 18 rs11553521
dbSNP Clinvar 		12348285 2969.61 T C PASS 0/1 114 SYNONYMOUS_CODING LOW None 0.70986 0.70990 0.22074 None None None None None None AFG3L2|0.258891122|30.83%
View combined sample_42.variant6 18 rs11080572
dbSNP Clinvar 		12351342 2611.18 C T PASS 0/1 93 SYNONYMOUS_CODING LOW None 0.62320 0.62320 0.31386 None None None None None None AFG3L2|0.258891122|30.83%

ALPK2
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 combined sample_42.variant6 18 rs9944810
dbSNP Clinvar 		56247600 993.65 C A PASS 1/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.48283 0.48280 0.44919 1.00 0.00 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_42.variant6 18 rs12606191
dbSNP Clinvar 		56246442 4072.84 T C PASS 1/1 285 SYNONYMOUS_CODING LOW None 0.37340 0.37340 0.29586 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_42.variant6 18 rs9956630
dbSNP Clinvar 		56247567 882.32 A G PASS 1/1 95 SYNONYMOUS_CODING LOW None 0.48283 0.48280 0.45052 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_42.variant6 18 rs9958735
dbSNP Clinvar 		56247180 2422.69 T C PASS 1/1 199 SYNONYMOUS_CODING LOW None 0.51018 0.51020 0.47932 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_42.variant6 18 rs6566987
dbSNP Clinvar 		56279025 559.57 T G PASS 1/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.94070 0.94070 0.15807 1.00 0.00 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_42.variant6 18 rs3809972
dbSNP Clinvar 		56204945 3616.46 C G PASS 0/1 128 NON_SYNONYMOUS_CODING MODERATE None 0.40415 0.40420 0.49462 0.34 0.00 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_42.variant6 18 rs3809973
dbSNP Clinvar 		56204932 3577.27 T G PASS 0/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.40435 0.40440 0.49470 0.02 0.70 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_42.variant6 18 rs10469212
dbSNP Clinvar 		56202418 3922.66 T C PASS 1/1 126 SYNONYMOUS_CODING LOW None 0.93051 0.93050 0.06874 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_42.variant6 18 rs3809983
dbSNP Clinvar 		56202768 6143.76 C A PASS 0/1 177 NON_SYNONYMOUS_CODING MODERATE None 0.33147 0.33150 0.41027 0.13 0.08 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_42.variant6 18 rs3826594
dbSNP Clinvar 		56202982 4879.54 A T PASS 0/1 150 SYNONYMOUS_CODING LOW None 0.67292 0.67290 0.31632 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_42.variant6 18 rs3809982
dbSNP Clinvar 		56203074 4044.14 G A PASS 0/1 140 NON_SYNONYMOUS_CODING MODERATE None 0.32927 0.32930 0.40855 0.05 0.96 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_42.variant6 18 rs3809981
dbSNP Clinvar 		56203120 3720.8 C T PASS 0/1 131 SYNONYMOUS_CODING LOW None 0.32987 0.32990 0.40866 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_42.variant6 18 rs3809980
dbSNP Clinvar 		56203411 4051.74 G C PASS 0/1 141 SYNONYMOUS_CODING LOW None 0.67153 0.67150 0.31678 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_42.variant6 18 rs3809970
dbSNP Clinvar 		56204991 3953.81 C T PASS 0/1 151 NON_SYNONYMOUS_CODING MODERATE None 0.40355 0.40360 0.49462 0.10 0.16 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_42.variant6 18 rs3809971
dbSNP Clinvar 		56204977 3926.82 C T PASS 0/1 141 SYNONYMOUS_CODING LOW None 0.40415 0.40420 0.49470 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_42.variant6 18 rs7240666
dbSNP Clinvar 		56149099 5580.56 T C PASS 1/1 140 NON_SYNONYMOUS_CODING MODERATE None 0.92153 0.92150 0.16754 1.00 0.00 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_42.variant6 18 rs3809976
dbSNP Clinvar 		56204250 6213.29 A C PASS 0/1 206 NON_SYNONYMOUS_CODING MODERATE None 0.67213 0.67210 0.31678 0.53 0.28 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_42.variant6 18 rs3809977
dbSNP Clinvar 		56203898 4596.08 T G PASS 0/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.67173 0.67170 0.31747 0.05 0.02 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_42.variant6 18 rs12103986
dbSNP Clinvar 		56205262 5811.36 A C PASS 0/1 146 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.40440 0.49408 0.76 0.00 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_42.variant6 18 rs3809978
dbSNP Clinvar 		56203891 4697.05 G T PASS 0/1 161 SYNONYMOUS_CODING LOW None 0.67173 0.67170 0.31708 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_42.variant6 18 rs3809979
dbSNP Clinvar 		56203447 4517.5 A G PASS 0/1 159 SYNONYMOUS_CODING LOW None 0.67173 0.67170 0.31678 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_42.variant6 18 rs3826593
dbSNP Clinvar 		56204747 2600.06 G A PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.79852 0.79850 0.15624 0.97 0.00 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_42.variant6 18 rs4940404
dbSNP Clinvar 		56204671 3244.41 A T PASS 0/1 102 NON_SYNONYMOUS_CODING MODERATE None 0.40415 0.40420 0.49439 0.12 0.16 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_42.variant6 18 rs55910046
dbSNP Clinvar 		56204410 6923.6 C T PASS 0/1 163 SYNONYMOUS_CODING LOW None 0.40435 0.40440 0.43487 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_42.variant6 18 rs67925233
dbSNP Clinvar 		56204387 6925.51 AC... A PASS 0/1 175 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.40196 0.40200 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_42.variant6 18 rs7236563
dbSNP Clinvar 		56196451 2343.98 C T PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.37300 0.37300 0.47617 None None None None None None ALPK2|0.002935349|88.74%

ANKRD12
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 combined sample_42.variant6 18 rs4798791
dbSNP Clinvar 		9255982 320.76 A G PASS 1/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.61342 0.61340 0.45472 0.07 1.00 None None None None None None ANKRD12|0.456435861|17.86%

ANKRD30B
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 combined sample_42.variant6 18 rs9675365
dbSNP Clinvar 		14779969 688.18 C G PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.46566 0.46570 0.29 0.55 None None None None None None ANKRD30B|0.000995671|95.47%
View combined sample_42.variant6 18 rs12457503
dbSNP Clinvar 		14752957 376.75 G A PASS 1/1 54 SYNONYMOUS_CODING LOW None 0.51997 0.52000 0.48489 None None None None None None ANKRD30B|0.000995671|95.47%
View combined sample_42.variant6 18 rs3126404
dbSNP Clinvar 		14850375 342.98 G A PASS 0/1 22 SYNONYMOUS_CODING LOW None 0.47244 0.47240 None None None None None None ANKRD30B|0.000995671|95.47%
View combined sample_42.variant6 18 rs72873710
dbSNP Clinvar 		14780019 486.92 G T PASS 0/1 75 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.06 0.28 4.05 0.02 0.3706 T None None None None ANKRD30B|0.000995671|95.47%
View combined sample_42.variant6 18 rs4090319
dbSNP Clinvar 		14848820 1190.28 C T PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.40076 0.40080 1.00 0.00 None None None None None None ANKRD30B|0.000995671|95.47%
View combined sample_42.variant6 18 rs28555630
dbSNP Clinvar 		14848821 188.78 G A PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.46965 0.46960 None None None None None None ANKRD30B|0.000995671|95.47%
View combined sample_42.variant6 18 rs12386087
dbSNP Clinvar 		14852335 546.5 C A PASS 1/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.96825 0.96830 0.37 0.00 None None None None None None ANKRD30B|0.000995671|95.47%

ANKRD62
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 combined sample_42.variant6 18 rs11873244
dbSNP Clinvar 		12124152 238.77 C G PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.23542 0.23540 1.00 0.00 None None None None None None ANKRD62|0.00149963|92.78%
View combined sample_42.variant6 18 rs4519391
dbSNP Clinvar 		12115509 960.93 G A PASS 1/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.52736 0.52740 0.01 0.64 None None None None None None ANKRD62|0.00149963|92.78%
View combined sample_42.variant6 18 rs7243248
dbSNP Clinvar 		12125657 1175.18 G A PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.54653 0.54650 1.00 0.00 None None None None None None ANKRD62|0.00149963|92.78%
View combined sample_42.variant6 18 rs1986751
dbSNP Clinvar 		12096249 4089.68 G T PASS 1/1 145 NON_SYNONYMOUS_CODING MODERATE None 0.52456 0.52460 0.08 0.16 None None None None None None ANKRD62|0.00149963|92.78%
View combined sample_42.variant6 18 rs6505715
dbSNP Clinvar 		12099654 2858.25 T C PASS 1/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.52436 0.52440 0.42 0.00 None None None None None None ANKRD62|0.00149963|92.78%

AP005482.1
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 combined sample_42.variant6 18 rs1062235
dbSNP Clinvar 		12658600 2089.3 A G PASS 0/1 111 SYNONYMOUS_CODING LOW None 0.29952 0.29950 None None None None None None None

APCDD1
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 combined sample_42.variant6 18 rs3185480
dbSNP Clinvar 		10487918 1129.21 C T PASS 0/1 126 SYNONYMOUS_CODING LOW None 0.40994 0.40990 0.35276 None None None None None None APCDD1|0.086159804|53.92%

ARHGAP28
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 combined sample_42.variant6 18 rs1116757
dbSNP Clinvar 		6890434 1367.1 A G PASS 0/1 114 SYNONYMOUS_CODING LOW None 0.56310 0.56310 0.43395 None None None None None None ARHGAP28|0.058067092|60.37%
View combined sample_42.variant6 18 rs4239328
dbSNP Clinvar 		6889973 3490.18 A G PASS 0/1 217 SYNONYMOUS_CODING LOW None 0.56090 0.56090 0.42934 None None None None None None ARHGAP28|0.058067092|60.37%
View combined sample_42.variant6 18 rs1056408
dbSNP Clinvar 		6912143 406.05 A C PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.72923 0.72920 0.16408 1.00 0.00 None None None None None None ARHGAP28|0.058067092|60.37%

ATP5A1
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 combined sample_42.variant6 18 rs56181324
dbSNP Clinvar 		43678024 872.37 G A PASS 0/1 25 MOTIF[MA0095.1:Yy1] LOW None 0.23882 0.23880 None None None None None None ATP5A1|0.559577689|13.38%
View combined sample_42.variant6 18 rs3753069
dbSNP Clinvar 		43678035 583.71 T C PASS 1/1 30 None None None 0.55052 0.55050 0.00 None None None None None None ATP5A1|0.559577689|13.38%

ATP8B1
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 combined sample_42.variant6 18 rs319438
dbSNP Clinvar 		55364852 1298.94 A G PASS 1/1 38 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.99461 0.99460 0.00692 None None None None None None ATP8B1|0.161108429|41.4%
View combined sample_42.variant6 18 rs222581
dbSNP Clinvar 		55317676 5205.54 C T PASS 1/1 188 NON_SYNONYMOUS_CODING MODERATE None 0.99980 0.99980 0.00123 1.00 0.00 None None None None None None ATP8B1|0.161108429|41.4%
View combined sample_42.variant6 18 rs319443
dbSNP Clinvar 		55362532 2435.05 T G PASS 1/1 84 SYNONYMOUS_CODING LOW None 0.99261 0.99260 0.01031 None None None None None None ATP8B1|0.161108429|41.4%

ATP9B
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 combined sample_42.variant6 18 rs3760541
dbSNP Clinvar 		77067000 1357.99 T G PASS 0/1 145 SYNONYMOUS_CODING LOW None 0.40336 0.40340 0.42219 None None None None None None ATP9B|0.095143963|52.07%
View combined sample_42.variant6 18 rs34331564
dbSNP Clinvar 		76873288 553.09 A G PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.06749 0.06749 0.07087 None None None None None None ATP9B|0.095143963|52.07%

C18orf21
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 combined sample_42.variant6 18 rs2276314
dbSNP Clinvar 		33557466 1481.62 A G PASS 1/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.24980 0.24980 0.25427 0.96 0.00 None None None None None None C18orf21|0.0273326|70.73%

C18orf25
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 combined sample_42.variant6 18 rs34068795,rs397790301
dbSNP Clinvar 		43833701 1533.77 T TCTG PASS 1/1 78 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.69269 0.69270 None None None None None None C18orf25|0.503978181|15.65%

C18orf56
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 combined sample_42.variant6 18 rs2853533
dbSNP Clinvar 		658064 4176.51 G C PASS 1/1 462 NON_SYNONYMOUS_CODING MODERATE None 0.33906 0.33910 0.20262 0.43 None None None None None None TYMSOS|0.00080118|96.64%,TYMS|0.850689466|4.62%

C18orf63
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 combined sample_42.variant6 18 rs12606060
dbSNP Clinvar 		72021717 2243.06 T C PASS 1/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.99820 0.99820 1.00 0.00 None None None None None None C18orf63|0.018173124|75.19%

C18orf8
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 combined sample_42.variant6 18 rs1788825
dbSNP Clinvar 		21109250 1396.04 T C PASS 0/1 126 SYNONYMOUS_CODING LOW None 0.83047 0.83050 0.26372 None None None None None None C18orf8|0.098725998|51.41%,NPC1|0.141724211|44.18%

CABLES1
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 combined sample_42.variant6 18 rs139352344
dbSNP Clinvar 		20716014 2211.86 GG... G PASS 1/1 81 CODON_DELETION MODERATE None 0.22424 0.22420 None None None None None None CABLES1|0.229324595|33.42%

CABYR
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 combined sample_42.variant6 18 rs1049683
dbSNP Clinvar 		21736933 2768.7 T G PASS 1/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.85324 0.85320 0.15538 1.00 0.00 None None None None None None CABYR|0.10325602|50.56%
View combined sample_42.variant6 18 rs1049684
dbSNP Clinvar 		21739725 1421.78 T C PASS 0/1 140 None None None 0.47125 0.47120 0.41788 None None None None None None CABYR|0.10325602|50.56%

CBLN2
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 combined sample_42.variant6 18 rs7237888
dbSNP Clinvar 		70209321 1542.25 C A PASS 1/1 47 SYNONYMOUS_CODING LOW None 0.56310 0.56310 0.24141 None None None None None None CBLN2|0.157579656|41.93%

CCDC102B
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 combined sample_42.variant6 18 rs572020
dbSNP Clinvar 		66504459 1570.16 A T PASS 1/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.92093 0.92090 0.07229 0.55 0.00 None None None None None None CCDC102B|0.006657119|83.88%
View combined sample_42.variant6 18 rs485613
dbSNP Clinvar 		66504093 5809.38 A C PASS 1/1 165 SYNONYMOUS_CODING LOW None 0.92093 0.92090 0.07538 None None None None None None CCDC102B|0.006657119|83.88%
View combined sample_42.variant6 18 rs2187094
dbSNP Clinvar 		66513615 787.33 A G PASS 0/1 150 NON_SYNONYMOUS_CODING MODERATE None 0.36781 0.36780 0.29602 0.07 0.16 None None None None None None CCDC102B|0.006657119|83.88%

CCDC11
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 combined sample_42.variant6 18 rs35193847
dbSNP Clinvar 		47777244 950.06 C T PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.19349 0.19350 0.30506 0.04 0.19 None None None None None None CFAP53|0.02234551|72.99%

CCDC178
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 combined sample_42.variant6 18 rs466113
dbSNP Clinvar 		30804756 2292.39 C T PASS 1/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.99541 0.99540 0.00477 0.01 0.03 None None None None None None CCDC178|0.012849829|78.59%
View combined sample_42.variant6 18 rs9965081
dbSNP Clinvar 		30846895 751.67 A T PASS 1/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.93251 0.93250 0.09595 0.98 0.00 None None None None None None CCDC178|0.012849829|78.59%

CCDC68
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 combined sample_42.variant6 18 rs61743412
dbSNP Clinvar 		52609945 1424.31 C T PASS 0/1 117 SYNONYMOUS_CODING LOW None 0.08686 0.08686 0.05967 None None None None None None CCDC68|0.06035994|59.77%
View combined sample_42.variant6 18 rs1344011
dbSNP Clinvar 		52605188 927.02 C T PASS 0/1 35 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.17792 0.17790 0.16800 None None None None None None CCDC68|0.06035994|59.77%

CD226
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 combined sample_42.variant6 18 rs763361
dbSNP Clinvar 		67531642 4250.17 T C PASS 0/1 121 NON_SYNONYMOUS_CODING MODERATE None 0.46945 0.46940 0.45210 0.40 0.01 None None None None None None CD226|0.|85.1%
View combined sample_42.variant6 18 rs72481819
dbSNP Clinvar 		67534632 1330.15 C T PASS 0/1 85 SYNONYMOUS_CODING LOW None 0.02196 0.02196 0.04905 None None None None None None CD226|0.|85.1%

CDH19
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 combined sample_42.variant6 18 rs1055335
dbSNP Clinvar 		64176365 1268.36 G T PASS 0/1 129 SYNONYMOUS_CODING LOW None 0.25240 0.25240 0.29140 None None None None None None CDH19|0.03445316|67.64%

CDH2
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 combined sample_42.variant6 18 rs1628684
dbSNP Clinvar 		25570228 5507.29 G C PASS 1/1 216 SYNONYMOUS_CODING LOW None 0.99361 0.99360 0.00638 None None None None None None CDH2|0.998144482|0.55%
View combined sample_42.variant6 18 rs1041985
dbSNP Clinvar 		25543387 1294.2 G A PASS 1/1 90 SYNONYMOUS_CODING LOW None 0.32748 0.32750 0.26718 None None None None None None CDH2|0.998144482|0.55%
View combined sample_42.variant6 18 rs1220144
dbSNP Clinvar 		25565082 5230.26 A G PASS 1/1 220 SYNONYMOUS_CODING LOW None 0.99002 0.99000 0.01000 None None None None None None CDH2|0.998144482|0.55%

CDH20
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 combined sample_42.variant6 18 rs34784622
dbSNP Clinvar 		59195229 2873.9 C T PASS 0/1 213 SYNONYMOUS_CODING LOW None 0.00759 0.00759 0.01576 None None None None None None CDH20|0.521854874|14.91%
View combined sample_42.variant6 18 rs595093
dbSNP Clinvar 		59170304 2264.3 C G PASS 1/1 120 SYNONYMOUS_CODING LOW None 0.99581 0.99580 0.00461 None None None None None None CDH20|0.521854874|14.91%
View combined sample_42.variant6 18 rs12964819
dbSNP Clinvar 		59166541 865.95 C T PASS 1/1 114 SYNONYMOUS_CODING LOW None 0.62220 0.62220 0.34100 None None None None None None CDH20|0.521854874|14.91%

CDH7
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 combined sample_42.variant6 18 rs2306675
dbSNP Clinvar 		63511176 1666.29 T C PASS 1/1 176 SYNONYMOUS_CODING LOW None 0.18610 0.18610 0.28987 None None None None None None CDH7|0.157743367|41.9%
View combined sample_42.variant6 18 rs8097752
dbSNP Clinvar 		63489378 1424.17 C T PASS 1/1 131 SYNONYMOUS_CODING LOW None 0.85284 0.85280 0.13917 3.19 0.01 0.14173 T None None None None CDH7|0.157743367|41.9%

CEP192
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 combined sample_42.variant6 18 rs474337
dbSNP Clinvar 		13095609 3218.66 T C PASS 1/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.76997 0.77000 0.29133 0.07 0.00 None None None None None None CEP192|0.030811627|69.03%
View combined sample_42.variant6 18 rs11080618
dbSNP Clinvar 		13001523 606.77 G A PASS 1/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.27416 0.27420 0.03 0.00 None None None None None None CEP192|0.030811627|69.03%
View combined sample_42.variant6 18 rs4499304
dbSNP Clinvar 		13001512 1742.32 G C PASS 1/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.43071 0.43070 0.61 0.00 1.14 0.01 0.23031 T None None None None CEP192|0.030811627|69.03%
View combined sample_42.variant6 18 rs2282541
dbSNP Clinvar 		13056333 2764.3 C T PASS 1/1 158 SYNONYMOUS_CODING LOW None 0.24621 0.24620 0.29386 None None None None None None CEP192|0.030811627|69.03%
View combined sample_42.variant6 18 rs578208
dbSNP Clinvar 		13068132 4136.11 T C PASS 1/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.74720 0.74720 0.31624 1.00 0.00 None None None None None None CEP192|0.030811627|69.03%
View combined sample_42.variant6 18 rs1786263
dbSNP Clinvar 		13116432 2880.0 G T PASS 1/1 154 NON_SYNONYMOUS_CODING MODERATE None 0.77556 0.77560 0.28087 1.00 0.00 None None None None None None CEP192|0.030811627|69.03%
View combined sample_42.variant6 18 rs6505780
dbSNP Clinvar 		13069782 3273.48 C T PASS 1/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.77017 0.77020 0.29148 1.00 0.00 None None None None None None CEP192|0.030811627|69.03%

CETN1
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 combined sample_42.variant6 18 rs61734344
dbSNP Clinvar 		580623 1732.96 T C PASS 1/1 190 NON_SYNONYMOUS_CODING MODERATE None 0.17971 0.17970 0.16639 0.00 0.99 3.92 None None None None None None CETN1|0.043345543|64.71%

CIDEA
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 combined sample_42.variant6 18 rs11873135
dbSNP Clinvar 		12254785 925.73 G C PASS 0/1 104 None None None 0.17572 0.17570 0.15355 0.00 None None None None None None CIDEA|0.01791692|75.33%
View combined sample_42.variant6 18 rs7505615
dbSNP Clinvar 		12254816 1264.02 A G PASS 0/1 106 None None None 0.27955 0.27960 0.21437 0.00 None None None None None None CIDEA|0.01791692|75.33%