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+ Genes 192

+ Genes associated with diseases 47

Genes at Omim

ABHD12, ARFGEF2, ASXL1, BFSP1, BMP2, CHMP4B, CHRNA4, COL9A3, CST3, CTSA, CYP24A1, DNMT3B, EEF1A2, ELMO2, FERMT1, FLRT3, GATA5, GNAS, IFT52, ITPA, JAG1, JPH2, KCNQ2, MGME1, MKKS, MMP9, MYLK2, NOP56, PCK1, PIGT, PLCB1, POFUT1, PROKR2, RSPO4, RTEL1, SALL4, SLC12A5, SLC17A9, SLC4A11, SLC52A3, SNAP25, SRC, STX16, TUBB1, VSX1, ZNF335, ZNF341,
ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3)
ARFGEF2 Periventricular heterotopia with microcephaly, 608097 (3)
ASXL1 Bohring-Opitz syndrome, 605039 (3)
Myelodysplastic syndrome, somatic, 614286 (3)
BFSP1 Cataract 33, multiple types, 611391 (3)
BMP2 {HFE hemochromatosis, modifier of}, 235200 (3)
Brachydactyly, type A2, 112600 (3)
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877 (3)
CHMP4B Cataract 31, multiple types, 605387 (3)
CHRNA4 {Nicotine addiction, susceptibility to}, 188890 (3)
Epilepsy, nocturnal frontal lobe, 1, 600513 (3)
COL9A3 {Intervertebral disc disease, susceptibility to}, 603932 (3)
Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 (3)
CST3 Cerebral amyloid angiopathy, 105150 (3)
{Macular degeneration, age-related, 11}, 611953 (3)
CTSA Galactosialidosis, 256540 (3)
CYP24A1 Hypercalcemia, infantile, 1, 143880 (3)
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
EEF1A2 Epileptic encephalopathy, early infantile, 33, 616409 (3)
Mental retardation, autosomal dominant 38, 616393 (3)
ELMO2 Vascular malformation, primary intraosseous, 606893 (3)
FERMT1 Kindler syndrome, 173650 (3)
FLRT3 Hypogonadotropic hypogonadism 21 with anosmia, 615271 (3)
GATA5 Congenital heart defects, multiple types, 5, 617912 (3)
GNAS ACTH-independent macronodular adrenal hyperplasia, 219080 (3)
McCune-Albright syndrome, somatic, mosaic 174800 (3)
Osseous heteroplasia, progressive, 166350 (3)
Pituitary adenoma 3, multiple types, somatic, 617686 (3)
Pseudohypoparathyroidism Ia, 103580 (3)
Pseudohypoparathyroidism Ib, 603233 (3)
Pseudohypoparathyroidism Ic, 612462 (3)
Pseudopseudohypoparathyroidism, 612463 (3)
IFT52 Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3)
ITPA Epileptic encephalopathy, early infantile, 35, 616647 (3)
[Inosine triphosphatase deficiency], 613850 (3)
JAG1 Alagille syndrome 1, 118450 (3)
?Deafness, congenital heart defects, and posterior embryotoxon, 617992 (3)
Tetralogy of Fallot, 187500 (3)
JPH2 Cardiomyopathy, hypertrophic, 17, 613873 (3)
KCNQ2 Epileptic encephalopathy, early infantile, 7, 613720 (3)
Myokymia, 121200 (3)
Seizures, benign neonatal, 1, 121200 (3)
MGME1 Mitochondrial DNA depletion syndrome 11, 615084 (3)
MKKS Bardet-Biedl syndrome 6, 605231 (3)
McKusick-Kaufman syndrome, 236700 (3)
MMP9 Metaphyseal anadysplasia 2, 613073 (3)
MYLK2 Cardiomyopathy, hypertrophic, 1, digenic, 192600 (3)
NOP56 Spinocerebellar ataxia 36, 614153 (3)
PCK1 ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3)
PIGT Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 (3)
?Paroxysmal nocturnal hemoglobinuria 2, 615399 (3)
PLCB1 Epileptic encephalopathy, early infantile, 12, 613722 (3)
POFUT1 Dowling-Degos disease 2, 615327 (3)
PROKR2 Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 (3)
RSPO4 Anonychia congenita, 206800 (3)
RTEL1 Dyskeratosis congenita, autosomal dominant 4, 615190 (3)
Dyskeratosis congenita, autosomal recessive 5, 615190 (3)
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 (3)
SALL4 IVIC syndrome, 147750 (3)
Duane-radial ray syndrome, 607323 (3)
SLC12A5 Epileptic encephalopathy, early infantile, 34, 616645 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685 (3)
SLC17A9 Porokeratosis 8, disseminated superficial actinic type, 616063 (3)
SLC4A11 Corneal dystrophy, Fuchs endothelial, 4, 613268 (3)
Corneal endothelial dystrophy and perceptive deafness, 217400 (3)
Corneal endothelial dystrophy, autosomal recessive, 217700 (3)
SLC52A3 Brown-Vialetto-Van Laere syndrome 1, 211530 (3)
?Fazio-Londe disease, 211500 (3)
SNAP25 ?Myasthenic syndrome, congenital, 18, 616330 (3)
SRC Colon cancer, advanced, somatic, 114500 (3)
?Thrombocytopenia 6, 616937 (3)
STX16 Pseudohypoparathyroidism, type IB, 603233 (3)
TUBB1 Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 (3)
VSX1 Keratoconus 1, 148300 (3)
?Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 (3)
ZNF335 Microcephaly 10, primary, autosomal recessive, 615095 (3)
ZNF341 Hyper-IgE recurrent infection syndrome 3, autosomal recessive, 618282 (3)

Genes at Clinical Genomics Database

ABHD12, ARFGEF2, ASXL1, BFSP1, BMP2, CHMP4B, CHRNA4, COL9A3, CST3, CTSA, CYP24A1, DNMT3B, EEF1A2, FERMT1, FLRT3, GNAS, ITPA, JAG1, JPH2, KCNQ2, MGME1, MKKS, MMP9, MYLK2, NOP56, PIGT, PLCB1, POFUT1, PROKR2, RSPO4, RTEL1, SALL4, SLC12A5, SLC17A9, SLC4A11, SLC52A3, SNAP25, SRC, STX16, TUBB1, VSX1, ZNF335,
ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
ARFGEF2 Heterotopia, periventricular, autosomal recessive
ASXL1 Bohring-Opitz syndrome
BFSP1 Cataract, cortical, juvenile-onset
BMP2 Brachydactyly, type A2
CHMP4B Cataract 31, multiple types
CHRNA4 Epilepsy, nocturnal frontal lobe, type 1
COL9A3 Epiphyseal dysplasia, multiple, 3
CST3 Cerebral amyloid angiopathy
CTSA Galactosialidosis
CYP24A1 1,25(OH)(2)D-24-hydroxylase deficiency
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1
EEF1A2 Epileptic encephalopathy, early infantile, 33
Mental retardation, autosomal dominant 28
FERMT1 Kindler syndrome
FLRT3 Hypogonadotropic hypogonadism 21, with or without anosmia
GNAS Pseudohypoparathyroidism, type IA
Pseudohypoparathyroidism, type IB
Pseudohypoparathyroidism, type IC
Progressive osseous heteroplasia
McCune-Albright syndrome
ITPA Inosine triphosphatase deficiency
JAG1 Alagille syndrome
JPH2 Cardiomyopathy, familial hypertrophic 17
KCNQ2 Epileptic encephalopathy, early infantile, 7
Benign familial neonatal seizures, 1
Myokymia
MGME1 Mitochondrial DNA depletion syndrome 11
MKKS McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
MMP9 Metaphyseal anadysplasia 2
MYLK2 Cardiomyopathy, hypertrophic
NOP56 Spinocerebellar ataxia 36
PIGT Multiple congenital anomalies-hypotonia-seizures syndrome 3
PLCB1 Epileptic encephalopathy, early infantile, 12
POFUT1 Dowling-Degos disease 2
PROKR2 Hypogonadotropic hypogonadism 3 with or without anosmia
RSPO4 Anonychia/hyponychia congenita
RTEL1 Pulmonary fibrosis and/or bone marrow failure, telomere-related 3
Dyskeratosis congenita, autosomal dominant 4
Dyskeratosis congenita, autosomal recessive 5
SALL4 Duane-radial ray/Okohiro syndrome
Acro-Renal-Ocular syndrome
SLC12A5 Epileptic encephalopathy, early infantile, 34
SLC17A9 Porokeratosis, disseminated superficial actinic, 8
SLC4A11 Cryohydrocytosis
SLC52A3 Brown-Vialetto-Van Laere syndrome 1
Fazio-Londe disease
SNAP25 Myasthenic syndrome, congenital 18, with intellectual disability and ataxia
SRC Thrombocytopenia, autosomal dominant, 6
STX16 Pseudohypoparathyroidism, type IB
TUBB1 Macrothrombocytopenia, autosomal dominant, TUBB1-related
VSX1 Craniofacial anomalies and anterior segment dysgenesis syndrome
Keratoconus 1
Corneal dystrophy, posterior polymorphous
ZNF335 Microcephaly 10, primary, autosomal recessive

Genes at HGMD

Summary

Number of Variants: 343
Number of Genes: 192

Export to: CSV

ABHD12
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 1886106_bak chr20 20 rs6107027
dbSNP Clinvar 		25288632 953.77 G A PASS 1/1 31 SYNONYMOUS_CODING LOW None 0.33606 0.33610 0.43465 None None None None None None ABHD12|0.092039068|52.8%

ACSS1
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 1886106_bak chr20 20 rs6050259
dbSNP Clinvar 		25011423 2743.77 T C PASS 0/1 233 SYNONYMOUS_CODING LOW None 0.22264 0.22260 0.30540 None None None None None None ACSS1|0.048821607|63.01%

ACSS2
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 1886106_bak chr20 20 rs57092223
dbSNP Clinvar 		33507324 2526.77 C T PASS 0/1 283 SYNONYMOUS_CODING LOW None 0.00180 0.00180 0.00038 None None None None None None ACSS2|0.488270454|16.4%
View 1886106_bak chr20 20 rs4911163
dbSNP Clinvar 		33470694 1423.77 C T PASS 0/1 136 SYNONYMOUS_CODING LOW None 0.51218 0.51220 0.43434 None None None None None None ACSS2|0.488270454|16.4%

ACTL10
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1886106_bak chr20 20 rs377626038
dbSNP Clinvar 		32256026 3314.77 C T PASS 0/1 246 SYNONYMOUS_CODING LOW None 0.00015 None None None None None None NECAB3|0.054483175|61.33%,ACTL10|0.017987153|75.29%

ACTR5
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 1886106_bak chr20 20 rs2254105
dbSNP Clinvar 		37377139 3704.77 C T PASS 0/1 250 SYNONYMOUS_CODING LOW None 0.24501 0.24500 None None None None None None ACTR5|0.119979077|47.44%
View 1886106_bak chr20 20 rs2748663
dbSNP Clinvar 		37383640 2078.77 T C PASS 0/1 146 SYNONYMOUS_CODING LOW None 0.23922 0.23920 0.24673 None None None None None None ACTR5|0.119979077|47.44%

ADAM33
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1886106_bak chr20 20 rs528557
dbSNP Clinvar 		3651742 4310.77 C G PASS 0/1 320 SYNONYMOUS_CODING LOW None 0.38778 0.38780 0.38944 None None None None None None ADAM33|0.021575059|73.4%
View 1886106_bak chr20 20 rs2271511
dbSNP Clinvar 		3654433 4721.77 C T PASS 0/1 326 SYNONYMOUS_CODING LOW None 0.27536 0.27540 0.21291 None None None None None None ADAM33|0.021575059|73.4%

ADRA1D
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 1886106_bak chr20 20 rs35105284
dbSNP Clinvar 		4228735 3901.77 C T PASS 0/1 272 SYNONYMOUS_CODING LOW None 0.20487 0.20490 0.22072 None None None None None None ADRA1D|0.152836614|42.55%

ADRM1
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 1886106_bak chr20 20 rs2427275
dbSNP Clinvar 		60881780 5378.77 T C PASS 1/1 166 SYNONYMOUS_CODING LOW None 0.96286 0.96290 0.03147 None None None None None None ADRM1|0.222122669|34.19%
View 1886106_bak chr20 20 rs2427273
dbSNP Clinvar 		60881330 5114.77 G A PASS 1/1 156 SYNONYMOUS_CODING LOW None 0.81789 0.81790 0.16377 None None None None None None ADRM1|0.222122669|34.19%

ANGPT4
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 1886106_bak chr20 20 rs61737018
dbSNP Clinvar 		860426 1416.77 G A PASS 0/1 117 SYNONYMOUS_CODING LOW None 0.14876 0.14880 0.12479 None None None None None None ANGPT4|0.024319862|72.08%
View 1886106_bak chr20 20 rs944110
dbSNP Clinvar 		854940 3382.77 T C PASS 0/1 212 SYNONYMOUS_CODING LOW None 0.51298 0.51300 0.39090 None None None None None None ANGPT4|0.024319862|72.08%

ANKEF1
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 1886106_bak chr20 20 rs575534
dbSNP Clinvar 		10019093 2453.77 A G PASS 0/1 160 SYNONYMOUS_CODING LOW None 0.56550 0.56550 0.35514 None None None None None None ANKEF1|0.06517726|58.59%

ANKRD60
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 1886106_bak chr20 20 rs1192511
dbSNP Clinvar 		56793764 7505.77 G A PASS 1/1 230 SYNONYMOUS_CODING LOW None 0.67672 0.67670 0.21397 None None None None None None ANKRD60|0.001529196|92.64%
View 1886106_bak chr20 20 rs1192514
dbSNP Clinvar 		56803353 2795.77 C T PASS 0/1 221 SYNONYMOUS_CODING LOW None 0.32728 0.32730 0.27661 None None None None None None ANKRD60|0.001529196|92.64%

ARFGEF2
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 1886106_bak chr20 20 rs2295580
dbSNP Clinvar 		47626847 3087.77 T C PASS 0/1 203 SYNONYMOUS_CODING LOW None 0.35423 0.35420 0.40389 None None None None None None ARFGEF2|0.303924468|27.35%

ARFRP1
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 1886106_bak chr20 20 rs1048665
dbSNP Clinvar 		62331989 3915.77 T G PASS 0/1 297 SYNONYMOUS_CODING LOW None 0.26478 0.26480 0.17546 None None None None None None ARFRP1|0.101604996|50.84%

ARHGAP40
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 1886106_bak chr20 20 rs6070809
dbSNP Clinvar 		37257590 1369.77 C G PASS 0/1 132 SYNONYMOUS_CODING LOW None 0.36597 None None None None None None ARHGAP40|0.014368541|77.58%

ASXL1
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 1886106_bak chr20 20 rs4911231
dbSNP Clinvar 		31024274 4657.77 T C PASS 0/1 274 SYNONYMOUS_CODING LOW None 0.40575 0.40580 0.32008 None None None None None None ASXL1|0.399812505|20.78%

ATP9A
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 1886106_bak chr20 20 rs2255341
dbSNP Clinvar 		50287736 4981.77 C T PASS 1/1 147 SYNONYMOUS_CODING LOW None 0.53295 0.53290 0.46555 None None None None None None ATP9A|0.17091233|40.18%
View 1886106_bak chr20 20 rs2255342
dbSNP Clinvar 		50287790 4221.77 A G PASS 1/1 124 SYNONYMOUS_CODING LOW None 0.70407 0.70410 0.26749 None None None None None None ATP9A|0.17091233|40.18%

ATRN
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 1886106_bak chr20 20 rs235540
dbSNP Clinvar 		3564672 5250.77 C T PASS 1/1 162 SYNONYMOUS_CODING LOW None 0.82448 0.82450 0.26895 None None None None None None ATRN|0.348885303|24.22%

B4GALT5
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 1886106_bak chr20 20 rs421801
dbSNP Clinvar 		48257149 4860.77 C T PASS 1/1 150 SYNONYMOUS_CODING LOW None 0.81010 0.81010 0.18976 None None None None None None B4GALT5|0.192081933|37.58%
View 1886106_bak chr20 20 rs2235855
dbSNP Clinvar 		48259034 2923.77 A G PASS 1/1 91 SYNONYMOUS_CODING LOW None 0.44669 0.44670 0.47709 None None None None None None B4GALT5|0.192081933|37.58%

BCAS4
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 1886106_bak chr20 20 rs117388674
dbSNP Clinvar 		49411689 1456.77 G T PASS 0/1 147 SYNONYMOUS_CODING LOW None 0.03355 0.03355 0.02239 None None None None None None BCAS4|0.010998119|80.07%

BFSP1
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 1886106_bak chr20 20 rs6136118
dbSNP Clinvar 		17475217 9377.77 C T PASS 1/1 274 SYNONYMOUS_CODING LOW None 0.33946 0.33950 0.26803 None None None None None None BFSP1|0.019258664|74.54%
View 1886106_bak chr20 20 rs6080718
dbSNP Clinvar 		17474968 10526.77 T C PASS 1/1 309 SYNONYMOUS_CODING LOW None 0.00300 0.00300 0.25988 None None None None None None BFSP1|0.019258664|74.54%

BMP2
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1886106_bak chr20 20 rs1049007
dbSNP Clinvar 		6751034 3695.77 A G PASS 0/1 296 SYNONYMOUS_CODING LOW None 0.74601 0.74600 0.29174 None None None None None None BMP2|0.997316737|0.64%

BPI
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1886106_bak chr20 20 rs1341024
dbSNP Clinvar 		36932676 2635.77 G C PASS 0/1 266 SYNONYMOUS_CODING LOW None 0.43470 0.43470 0.43003 None None None None None None BPI|0.001345673|93.63%

C20orf194
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1886106_bak chr20 20 rs6051818
dbSNP Clinvar 		3362033 834.77 T C PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.23762 0.23760 0.25879 None None None None None None C20orf194|0.217196802|34.71%

C20orf195
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 1886106_bak chr20 20 rs3746348
dbSNP Clinvar 		62187187 3260.77 T C PASS 0/1 245 SYNONYMOUS_CODING LOW None 0.66314 0.66310 0.46071 None None None None None None C20orf195|0.069407522|57.62%
View 1886106_bak chr20 20 rs734750
dbSNP Clinvar 		62187439 4111.77 T C PASS 0/1 266 SYNONYMOUS_CODING LOW None 0.68371 0.68370 0.49354 None None None None None None C20orf195|0.069407522|57.62%

C20orf196
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1886106_bak chr20 20 rs1699233
dbSNP Clinvar 		5843812 2669.77 T C PASS 0/1 150 SYNONYMOUS_CODING LOW None 0.43311 0.43310 0.48716 None None None None None None C20orf196|0.008754295|81.9%

C20orf201
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1886106_bak chr20 20 rs6010717
dbSNP Clinvar 		62714783 2616.77 C G PASS 0/1 159 SYNONYMOUS_CODING LOW None 0.62460 0.62460 0.37159 None None None None None None OPRL1|0.253276549|31.26%,LKAAEAR1|0.00333726|88.03%

C20orf26
Omim - GeneCards - NCBI
Options Individual Chr
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1886106_bak chr20 20 rs2424317
dbSNP Clinvar 		20257958 2162.77 C T PASS 0/1 189 SYNONYMOUS_CODING LOW None 0.13399 0.13400 0.20560 None None None None None None CFAP61|0.103943105|50.42%

C20orf96
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 1886106_bak chr20 20 rs2277781
dbSNP Clinvar 		257733 4886.77 A G PASS 1/1 138 SYNONYMOUS_CODING LOW None 0.64717 0.64720 0.32424 None None None None None None C20orf96|0.00266282|89.34%

CABLES2
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 1886106_bak chr20 20 rs1570027
dbSNP Clinvar 		60968596 2202.77 A G PASS 0/1 176 SYNONYMOUS_CODING LOW None 0.20248 0.20250 0.22705 None None None None None None CABLES2|0.058513615|60.25%

CASS4
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 1886106_bak chr20 20 rs3746623
dbSNP Clinvar 		55033476 5892.77 C G PASS 1/1 164 SYNONYMOUS_CODING LOW None 0.52596 0.52600 0.36191 None None None None None None CASS4|0.007706606|82.84%
View 1886106_bak chr20 20 rs3746625
dbSNP Clinvar 		55033647 7128.77 T C PASS 1/1 203 SYNONYMOUS_CODING LOW None 0.52576 0.52580 0.36160 None None None None None None CASS4|0.007706606|82.84%
View 1886106_bak chr20 20 rs3746624
dbSNP Clinvar 		55033635 6803.77 C T PASS 1/1 201 SYNONYMOUS_CODING LOW None 0.36861 0.36860 0.26019 None None None None None None CASS4|0.007706606|82.84%
View 1886106_bak chr20 20 rs2870738
dbSNP Clinvar 		55028167 2599.77 G A PASS 1/1 77 SYNONYMOUS_CODING LOW None 0.37740 0.37740 0.26576 None None None None None None CASS4|0.007706606|82.84%
View 1886106_bak chr20 20 rs3746626
dbSNP Clinvar 		55033713 5862.77 G A PASS 1/1 181 SYNONYMOUS_CODING LOW None 0.52556 0.52560 0.36025 None None None None None None CASS4|0.007706606|82.84%

CBFA2T2
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 1886106_bak chr20 20 rs3803939
dbSNP Clinvar 		32212690 4387.77 C T PASS 1/1 130 SYNONYMOUS_CODING LOW None 0.66913 0.66910 0.41796 None None None None None None CBFA2T2|0.275255923|29.51%

CD93
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 1886106_bak chr20 20 rs3746732
dbSNP Clinvar 		23065342 6977.77 A G PASS 1/1 194 SYNONYMOUS_CODING LOW None 0.77975 0.77980 0.24642 None None None None None None CD93|0.003918213|87.15%

CDC25B
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 1886106_bak chr20 20 rs1056720
dbSNP Clinvar 		3784110 1855.77 C T PASS 0/1 165 SYNONYMOUS_CODING LOW None 0.23003 0.23000 0.20498 None None None None None None CDC25B|0.242518934|32.24%

CDH22
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 1886106_bak chr20 20 rs1036214133
dbSNP Clinvar 		44803487 44.77 G C VQSRTrancheSNP99.90to100.00 0/1 55 SYNONYMOUS_CODING LOW None None None None None None None CDH22|0.178666963|39.18%

CDH4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Qual
 Ref
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1886106_bak chr20 20 rs2427240
dbSNP Clinvar 		60485627 4055.77 C T PASS 1/1 121 SYNONYMOUS_CODING LOW None 0.70487 0.70490 0.17000 None None None None None None CDH4|0.197684425|36.97%

CEBPB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1886106_bak chr20 20 rs4253439
dbSNP Clinvar 		48808011 2671.77 C T PASS 0/1 190 SYNONYMOUS_CODING LOW None 0.36981 0.36980 0.33705 None None None None None None CEBPB|0.637441971|10.54%

CENPB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1886106_bak chr20 20 rs751195966
dbSNP Clinvar 		3766309 4078.77 C T PASS 0/1 315 SYNONYMOUS_CODING LOW None None None None None None None CENPB|0.073516895|56.64%

CHGB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1886106_bak chr20 20 rs236153
dbSNP Clinvar 		5903894 3994.77 A G PASS 0/1 239 SYNONYMOUS_CODING LOW None 0.51518 0.51520 0.44864 None None None None None None CHGB|0.023575586|72.37%

CHMP4B
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 1886106_bak chr20 20 rs146262818
dbSNP Clinvar 		32438839 674.77 G A PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.00040 0.00040 0.00038 None None None None None None CHMP4B|0.541390316|14.15%

CHRNA4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1886106_bak chr20 20 rs1044393
dbSNP Clinvar 		61982124 9470.77 A G PASS 1/1 265 SYNONYMOUS_CODING LOW None 0.75719 0.75720 0.23305 None None None None None None CHRNA4|0.164276334|40.99%
View 1886106_bak chr20 20 rs1044394
dbSNP Clinvar 		61982085 11000.77 A G PASS 1/1 304 SYNONYMOUS_CODING LOW None 0.86362 0.86360 0.15670 None None None None None None CHRNA4|0.164276334|40.99%
View 1886106_bak chr20 20 rs2229959
dbSNP Clinvar 		61981554 10381.77 C A PASS 1/1 241 SYNONYMOUS_CODING LOW None 0.73383 0.73380 0.24861 None None None None None None CHRNA4|0.164276334|40.99%
View 1886106_bak chr20 20 rs2229960
dbSNP Clinvar 		61981536 9975.77 A G PASS 1/1 223 SYNONYMOUS_CODING LOW None 0.87081 0.87080 0.14286 None None None None None None CHRNA4|0.164276334|40.99%

COL20A1
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 1886106_bak chr20 20 rs4809287
dbSNP Clinvar 		61941747 5245.77 A G PASS 1/1 149 SYNONYMOUS_CODING LOW None 0.95347 0.95350 0.04211 None None None None None None COL20A1|0.010214941|80.7%
View 1886106_bak chr20 20 rs148231100
dbSNP Clinvar 		61950849 1086.77 G A PASS 0/1 98 SYNONYMOUS_CODING LOW None 0.00020 0.00020 0.00057 None None None None None None COL20A1|0.010214941|80.7%
View 1886106_bak chr20 20 rs6089881
dbSNP Clinvar 		61951489 5595.77 G C PASS 1/1 162 SYNONYMOUS_CODING LOW None 0.88379 0.88380 0.09093 None None None None None None COL20A1|0.010214941|80.7%

COL9A3
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 1886106_bak chr20 20 rs2249903
dbSNP Clinvar 		61460124 1609.77 G A PASS 0/1 154 SYNONYMOUS_CODING LOW None 0.08427 0.08427 0.13715 None None None None None None COL9A3|0.05194578|62.08%
View 1886106_bak chr20 20 rs142412708
dbSNP Clinvar 		61459319 1139.77 C T PASS 0/1 111 SYNONYMOUS_CODING LOW None 0.00120 0.00120 0.00138 None None None None None None COL9A3|0.05194578|62.08%
View 1886106_bak chr20 20 rs2294995
dbSNP Clinvar 		61468571 5946.77 T C PASS 1/1 184 SYNONYMOUS_CODING LOW None 0.70986 0.70990 0.23560 None None None None None None COL9A3|0.05194578|62.08%
View 1886106_bak chr20 20 rs2273079
dbSNP Clinvar 		61448969 960.77 C T PASS 0/1 81 SYNONYMOUS_CODING LOW None 0.14697 0.14700 0.03302 None None None None None None COL9A3|0.05194578|62.08%

CRNKL1
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 1886106_bak chr20 20 rs3817995
dbSNP Clinvar 		20033380 1958.77 A G PASS 0/1 123 SYNONYMOUS_CODING LOW None 0.51897 0.51900 0.45473 None None None None None None CRNKL1|0.403355497|20.56%,CFAP61|0.103943105|50.42%
View 1886106_bak chr20 20 rs2273057
dbSNP Clinvar 		20033242 3093.77 A T PASS 0/1 227 SYNONYMOUS_CODING LOW None 0.51897 0.51900 0.46378 None None None None None None CRNKL1|0.403355497|20.56%,CFAP61|0.103943105|50.42%

CSRP2BP
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1886106_bak chr20 20 rs2747404
dbSNP Clinvar 		18167977 8290.77 T C PASS 1/1 262 SYNONYMOUS_CODING LOW None 0.99101 0.99100 0.01576 None None None None None None CSRP2BP|0.117112066|47.93%

CST1
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 1886106_bak chr20 20 rs3188314
dbSNP Clinvar 		23729722 7325.77 G T PASS 1/1 229 SYNONYMOUS_CODING LOW None None None None None None None CST1|0.001682588|91.95%
View 1886106_bak chr20 20 rs13045477
dbSNP Clinvar 		23731426 2368.77 C T PASS 0/1 193 SYNONYMOUS_CODING LOW None 0.36681 0.36680 0.33415 None None None None None None CST1|0.001682588|91.95%

CST3
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 1886106_bak chr20 20 rs6138024
dbSNP Clinvar 		23618395 8830.77 T C PASS 1/1 258 SYNONYMOUS_CODING LOW None 0.95108 0.95110 0.05076 None None None None None None CST3|0.004669156|86.24%

CST8
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 1886106_bak chr20 20 rs2983288
dbSNP Clinvar 		23472391 3977.77 A G PASS 1/1 126 SYNONYMOUS_CODING LOW None 0.99101 0.99100 0.02161 None None None None None None CST8|0.002009585|90.99%

CTSA
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 1886106_bak chr20 20 rs742035
dbSNP Clinvar 		44520579 1716.77 C G PASS 0/1 115 SYNONYMOUS_CODING LOW None 0.08666 0.08666 0.05305 None None None None None None CTSA|0.152533286|42.59%

CTSZ
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 1886106_bak chr20 20 rs163785
dbSNP Clinvar 		57572675 4167.77 A G PASS 1/1 127 SYNONYMOUS_CODING LOW None 0.99940 0.99940 0.00200 None None None None None None CTSZ|0.028841376|69.97%
View 1886106_bak chr20 20 rs9760
dbSNP Clinvar 		57571763 2078.77 A G PASS 0/1 145 SYNONYMOUS_CODING LOW None 0.69888 0.69890 0.33154 None None None None None None CTSZ|0.028841376|69.97%

CYP24A1
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 1886106_bak chr20 20 rs2296241
dbSNP Clinvar 		52786219 421.77 G A PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.45807 0.45810 0.47570 None None None None None None CYP24A1|0.07549571|56.17%

DDX27
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 1886106_bak chr20 20 rs78749149
dbSNP Clinvar 		47855496 628.77 C T PASS 0/1 58 SYNONYMOUS_CODING LOW None 0.04093 0.04093 0.01069 None None None None None None DDX27|0.165363829|40.88%,ZNFX1|0.209728614|35.6%
View 1886106_bak chr20 20 rs238148
dbSNP Clinvar 		47850182 5561.77 C T PASS 1/1 175 SYNONYMOUS_CODING LOW None 0.60583 0.60580 0.30401 None None None None None None DDX27|0.165363829|40.88%

DEFB125
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 1886106_bak chr20 20 rs6111385
dbSNP Clinvar 		76962 7804.77 T C PASS 1/1 236 SYNONYMOUS_CODING LOW None 0.77336 0.77340 0.18507 None None None None None None DEFB125|0.000231187|99.69%

DIDO1
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 1886106_bak chr20 20 rs910149
dbSNP Clinvar 		61528074 8835.77 T C PASS 1/1 261 SYNONYMOUS_CODING LOW None 0.67392 0.67390 0.36745 None None None None None None DIDO1|0.007368736|83.17%
View 1886106_bak chr20 20 rs146466196
dbSNP Clinvar 		61512424 3978.77 C T PASS 0/1 235 SYNONYMOUS_CODING LOW None 0.01458 0.01458 0.01594 None None None None None None DIDO1|0.007368736|83.17%

DNMT3B
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 1886106_bak chr20 20 rs6058891
dbSNP Clinvar 		31386347 3684.77 T C PASS 0/1 237 SYNONYMOUS_CODING LOW None 0.75579 0.75580 0.42088 None None None None None None DNMT3B|0.978021249|1.52%

DNTTIP1
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 1886106_bak chr20 20 rs2664591
dbSNP Clinvar 		44420682 3838.77 T C PASS 1/1 118 SYNONYMOUS_CODING LOW None 0.67053 0.67050 0.24697 None None None None None None DNTTIP1|0.250150902|31.51%

DUSP15
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 1886106_bak chr20 20 rs12480325
dbSNP Clinvar 		30436666 2708.77 G A PASS 0/1 140 SYNONYMOUS_CODING LOW None 0.11741 0.11740 0.13586 None None None None None None DUSP15|0.048121823|63.28%

DZANK1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1886106_bak chr20 20 rs6075337
dbSNP Clinvar 		18393312 4384.77 C G PASS 1/1 128 SYNONYMOUS_CODING LOW None 0.62959 0.62960 0.25598 None None None None None None DZANK1|0.037247515|66.69%
View 1886106_bak chr20 20 rs6035042
dbSNP Clinvar 		18414356 5706.77 A G PASS 1/1 183 SYNONYMOUS_CODING LOW None 0.83167 0.83170 0.16201 None None None None None None DZANK1|0.037247515|66.69%

EBF4
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 1886106_bak chr20 20 rs2235813
dbSNP Clinvar 		2732902 2999.77 C G PASS 0/1 212 SYNONYMOUS_CODING LOW None 0.30451 0.30450 None None None None None None EBF4|0.123753953|46.85%

EEF1A2
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 1886106_bak chr20 20 rs310617
dbSNP Clinvar 		62126185 3943.77 A G PASS 0/1 311 SYNONYMOUS_CODING LOW None 0.59165 0.59170 0.42606 None None None None None None EEF1A2|0.203531601|36.29%

ELMO2
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 1886106_bak chr20 20 rs2257495
dbSNP Clinvar 		44996182 5561.77 A G PASS 1/1 169 SYNONYMOUS_CODING LOW None 0.98502 0.98500 0.01830 None None None None None None ELMO2|0.35275593|23.9%

ESF1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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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 1886106_bak chr20 20 rs6110019
dbSNP Clinvar 		13695680 4032.77 C T PASS 1/1 124 SYNONYMOUS_CODING LOW None 0.24121 0.24120 0.29863 None None None None None None ESF1|0.27948169|29.14%

FAM110A
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 1886106_bak chr20 20 rs538094
dbSNP Clinvar 		825678 11670.77 T C PASS 1/1 325 SYNONYMOUS_CODING LOW None 0.82508 0.82510 0.16209 None None None None None None FAM110A|0.035087441|67.45%

FAM65C
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 1886106_bak chr20 20 rs148727951
dbSNP Clinvar 		49214215 2568.77 G A PASS 0/1 202 SYNONYMOUS_CODING LOW None 0.00479 0.00479 0.00754 None None None None None None FAM65C|0.028131316|70.37%

FERMT1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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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 1886106_bak chr20 20 rs10373
dbSNP Clinvar 		6100088 1512.77 A G PASS 0/1 121 SYNONYMOUS_CODING LOW None 0.52456 0.52460 0.46763 None None None None None None FERMT1|0.137257205|44.82%
View 1886106_bak chr20 20 rs2232073
dbSNP Clinvar 		6065731 1711.77 T C PASS 0/1 83 SYNONYMOUS_CODING LOW None 0.45707 0.45710 0.06589 None None None None None None FERMT1|0.137257205|44.82%
View 1886106_bak chr20 20 rs753927
dbSNP Clinvar 		6064710 2308.77 A G PASS 0/1 160 SYNONYMOUS_CODING LOW None 0.39577 0.39580 0.35968 None None None None None None FERMT1|0.137257205|44.82%

FITM2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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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 1886106_bak chr20 20 rs6073401
dbSNP Clinvar 		42939750 9708.77 T C PASS 1/1 282 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None FITM2|0.107362781|49.71%

FLRT3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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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 1886106_bak chr20 20 rs6042672
dbSNP Clinvar 		14306896 6961.77 G A PASS 1/1 204 SYNONYMOUS_CODING LOW None 0.34365 0.34370 0.31878 None None None None None None MACROD2|0.978751843|1.49%,FLRT3|0.7058217|8.34%

FOXA2
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 1886106_bak chr20 20 rs1203910
dbSNP Clinvar 		22563025 3673.77 T C PASS 0/1 253 SYNONYMOUS_CODING LOW None 0.22224 0.22220 0.12277 None None None None None None FOXA2|0.134076269|45.26%
View 1886106_bak chr20 20 rs1800847
dbSNP Clinvar 		22563571 3322.77 G A PASS 0/1 243 SYNONYMOUS_CODING LOW None 0.12141 0.12140 None None None None None None FOXA2|0.134076269|45.26%
View 1886106_bak chr20 20 rs1212275
dbSNP Clinvar 		22562674 10640.77 T C PASS 1/1 296 SYNONYMOUS_CODING LOW None 0.95607 0.95610 0.10026 None None None None None None FOXA2|0.134076269|45.26%

FRG1B
Omim - GeneCards - NCBI
Options Individual Chr
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1886106_bak chr20 20 rs62199576
dbSNP Clinvar 		29628271 6307.77 C T PASS 0/1 266 SYNONYMOUS_CODING LOW None None None None None None None FRG1B|0.009509512|81.26%