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+ Genes 109

+ Genes associated with diseases 27

Genes at Omim

AIRE, CBS, CLDN14, COL18A1, COL6A1, COL6A2, CRYAA, HLCS, IFNAR2, ITGB2, KCNE1, KCNJ6, LIPI, LSS, MCM3AP, NRIP1, PCNT, PFKL, PIGP, RIPK4, RSPH1, SIK1, SON, SYNJ1, TMPRSS15, TMPRSS3, WDR4,
AIRE Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3)
CBS Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)
Thrombosis, hyperhomocysteinemic, 236200 (3)
CLDN14 Deafness, autosomal recessive 29, 614035 (3)
COL18A1 Knobloch syndrome, type 1, 267750 (3)
COL6A1 Bethlem myopathy 1, 158810 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
COL6A2 Bethlem myopathy 1, 158810 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
?Myosclerosis, congenital, 255600 (3)
CRYAA Cataract 9, multiple types, 604219 (3)
HLCS Holocarboxylase synthetase deficiency, 253270 (3)
IFNAR2 {Hepatitis B virus, susceptibility to}, 610424 (3)
?Immunodeficiency 45, 616669 (3)
ITGB2 Leukocyte adhesion deficiency, 116920 (3)
KCNE1 Jervell and Lange-Nielsen syndrome 2, 612347 (3)
Long QT syndrome 5, 613695 (3)
KCNJ6 Keppen-Lubinsky syndrome, 614098 (3)
LIPI {Hypertriglyceridemia, susceptibility to}, 145750 (3)
LSS Cataract 44, 616509 (3)
Hypotrichosis 14, 618275 (3)
MCM3AP Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 (3)
NRIP1 ?Congenital anomalies of kidney and urinary tract 3, 618270 (3)
PCNT Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
PFKL Hemolytic anemia due to phosphofructokinase deficiency (1)
PIGP ?Epileptic encephalopathy, early infantile, 55, 617599 (3)
RIPK4 CHAND syndrome, 214350 (3)
Popliteal pterygium syndrome, Bartsocas-Papas type, 263650 (3)
RSPH1 Ciliary dyskinesia, primary, 24, 615481 (3)
SIK1 Epileptic encephalopathy, early infantile, 30, 616341 (3)
SON ZTTK syndrome, 617140 (3)
SYNJ1 Epileptic encephalopathy, early infantile, 53, 617389 (3)
Parkinson disease 20, early-onset, 615530 (3)
TMPRSS15 Enterokinase deficiency, 226200 (3)
TMPRSS3 Deafness, autosomal recessive 8/10, 601072 (3)
WDR4 Galloway-Mowat syndrome 6, 618347 (3)
Microcephaly, growth deficiency, seizures, and brain malformations, 618346 (3)

Genes at Clinical Genomics Database

AIRE, CBS, CLDN14, COL18A1, COL6A1, COL6A2, CRYAA, HLCS, IFNAR2, ITGB2, KCNE1, KCNJ6, LIPI, LSS, NRIP1, PCNT, RIPK4, RSPH1, SIK1, TMPRSS15, TMPRSS3,
AIRE Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
CBS Homocystinuria due to cystathionine beta-synthase deficiency
CLDN14 Deafness, autosomal recessive 29
COL18A1 Knobloch syndrome 1
COL6A1 Ullrich congenital muscular dystrophy 1
Bethlem myopathy 1
COL6A2 Ullrich congenital muscular dystrophy 1
Myosclerosis, congenital
Bethlem myopathy 1
Epilepsy, progressive myoclonic, autosomal recessive
CRYAA Cataract 9, multiple types
HLCS Holocarboxylase synthetase deficiency
IFNAR2 Immunodeficiency 45
ITGB2 Leukocyte adhesion deficiency, type I
KCNE1 Long QT syndrome 5
Jervell and Lange-Nielsen syndrome 2
KCNJ6 Keppen-Lubinsky syndrome
LIPI Hypertriglyceridemia, familial
LSS Cataract 44
NRIP1 Schizophrenia
PCNT Microcephalic osteodysplastic primordial dwarfism, type II
RIPK4 Popliteal pterygium syndrome, lethal type
Bartsocas-Papas syndrome
RSPH1 Ciliary dyskinesia, primary, 24
SIK1 Epileptic encephalopathy, early infantile 30
TMPRSS15 Enterokinase deficiency
TMPRSS3 Deafness, autosomal recessive 10
Deafness, autosomal recessive 8

Genes at HGMD

Summary

Number of Variants: 272
Number of Genes: 109

Export to: CSV

ADAMTS1
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 na12878 compound_heterozygous 21 rs436525
dbSNP Clinvar 		28212760 1897.29 G A PASS 0/1 91 SYNONYMOUS_CODING LOW SILENT 0.56590 0.56590 0.32493 None None None None None None ADAMTS1|0.304173311|27.34%
View na12878 compound_heterozygous 21 rs434857
dbSNP Clinvar 		28217178 30.49 T G LowQual 0/1 3 SYNONYMOUS_CODING LOW SILENT 0.68890 0.68890 0.17773 None None None None None None ADAMTS1|0.304173311|27.34%
View na12878 compound_heterozygous 21 rs445784
dbSNP Clinvar 		28216692 75.93 G T PASS 0/1 8 SYNONYMOUS_CODING LOW SILENT 0.67812 0.67810 0.16880 None None None None None None ADAMTS1|0.304173311|27.34%
View na12878 compound_heterozygous 21 rs428785
dbSNP Clinvar 		28216595 1819.83 C G PASS 0/1 77 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.68910 0.68910 0.18987 0.25 0.00 None None None None None None ADAMTS1|0.304173311|27.34%

ADAMTS5
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 na12878 compound_heterozygous 21 rs55933916
dbSNP Clinvar 		28338423 3360.86 C G PASS 1/1 69 SYNONYMOUS_CODING LOW SILENT 0.09924 0.09924 0.16703 None None None None None None ADAMTS5|0.324991256|25.8%
View na12878 compound_heterozygous 21 rs226794
dbSNP Clinvar 		28302355 6451.93 A G PASS 1/1 164 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80970 0.80970 0.08527 1.00 0.00 None None None None None None ADAMTS5|0.324991256|25.8%

ADARB1
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 na12878 compound_heterozygous 21 rs1051367
dbSNP Clinvar 		46641968 4452.33 G A PASS 0/1 294 SYNONYMOUS_CODING LOW SILENT 0.49401 0.49400 0.49692 None None None None None None ADARB1|0.037848146|66.51%

AIRE
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 na12878 compound_heterozygous 21 rs1800521
dbSNP Clinvar 		45712977 418.16 T C PASS 0/1 38 SYNONYMOUS_CODING LOW SILENT 0.35623 0.35620 0.39350 None None None None None None AIRE|0.006628229|83.92%
View na12878 compound_heterozygous 21 rs1133779
dbSNP Clinvar 		45717550 4630.14 T C PASS 1/1 119 SYNONYMOUS_CODING LOW SILENT 0.53035 0.53040 0.49438 None None None None None None AIRE|0.006628229|83.92%
View na12878 compound_heterozygous 21 rs878081
dbSNP Clinvar 		45708277 2776.93 C T PASS 0/1 164 SYNONYMOUS_CODING LOW SILENT 0.13319 0.13320 0.18679 None None None None None None AIRE|0.006628229|83.92%

ATP5O
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 na12878 compound_heterozygous 21 rs4591
dbSNP Clinvar 		35281393 4304.25 A G PASS 0/1 205 SYNONYMOUS_CODING LOW SILENT 0.70208 0.70210 0.29940 None None None None None None ATP5O|0.055947808|60.93%

B3GALT5
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 na12878 compound_heterozygous 21 rs3746887
dbSNP Clinvar 		41032740 4583.59 T C PASS 1/1 122 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.65336 0.65340 0.31493 1.00 0.00 None None None None None None B3GALT5|0.004441095|86.45%
View na12878 compound_heterozygous 21 rs734413
dbSNP Clinvar 		41032804 6697.73 G A PASS 1/1 157 SYNONYMOUS_CODING LOW SILENT 0.62939 0.62940 0.33746 None None None None None None B3GALT5|0.004441095|86.45%

BACE2
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 na12878 compound_heterozygous 21 rs1046210
dbSNP Clinvar 		42622786 2990.14 C T PASS 0/1 194 SYNONYMOUS_CODING LOW SILENT 0.41893 0.41890 0.30132 None None None None None None BACE2|0.031049204|68.94%

BACH1
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 na12878 compound_heterozygous 21 rs388707
dbSNP Clinvar 		30714776 5071.21 T C PASS 1/1 126 SYNONYMOUS_CODING LOW SILENT 0.56590 0.56590 0.49285 None None None None None None BACH1|0.113830282|48.51%

BRWD1
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 na12878 compound_heterozygous 21 rs1041439
dbSNP Clinvar 		40571246 6503.44 A G PASS 0/1 274 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85284 0.85280 0.05336 0.52 0.00 None None None None None None BRWD1|0.163713366|41.06%
View na12878 compound_heterozygous 21 rs2183573
dbSNP Clinvar 		40574305 2893.82 A G PASS 0/1 161 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.61861 0.61860 0.40143 0.03 0.77 None None None None None None BRWD1|0.163713366|41.06%
View na12878 compound_heterozygous 21 rs6517529
dbSNP Clinvar 		40584598 4435.48 C T PASS 0/1 237 SYNONYMOUS_CODING LOW SILENT 0.85164 0.85160 0.05362 None None None None None None BRWD1|0.163713366|41.06%
View na12878 compound_heterozygous 21 rs2056844
dbSNP Clinvar 		40670460 1461.13 G C PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.47844 0.47840 0.45725 0.28 0.00 None None None None None None BRWD1|0.163713366|41.06%

C21orf33
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 na12878 compound_heterozygous 21 rs34002183
dbSNP Clinvar 		45564711 2237.29 C T PASS 0/1 133 SYNONYMOUS_CODING LOW SILENT 0.00879 0.00879 0.01899 None None None None None None C21orf33|0.016835395|76%
View na12878 compound_heterozygous 21 rs968714
dbSNP Clinvar 		45553596 984.87 T C PASS 1/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.59185 0.59190 0.34155 0.83 0.00 None None None None None None C21orf33|0.016835395|76%

C21orf58
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 na12878 compound_heterozygous 21 . 47734646 23.21 C G ESPStandard;LowQual 0/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.79 None None None None None None C21orf58|0.001829013|91.47%

C21orf62
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 na12878 compound_heterozygous 21 rs2231390
dbSNP Clinvar 		34166343 8487.62 C T PASS 1/1 194 SYNONYMOUS_CODING LOW SILENT 0.72744 0.72740 0.28794 None None None None None None C21orf62-AS1|0.000768866|96.88%,C21orf62|0.009914309|80.91%

C21orf91
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 na12878 compound_heterozygous 21 rs2824495
dbSNP Clinvar 		19169218 14424.2 G C PASS 1/1 287 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24461 0.24460 0.20607 0.90 0.00 None None None None None None C21orf91|0.173207879|39.92%

C2CD2
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 na12878 compound_heterozygous 21 rs3746904
dbSNP Clinvar 		43327793 2156.86 C T PASS 1/1 54 SYNONYMOUS_CODING LOW SILENT 0.36582 0.36580 0.35322 None None None None None None C2CD2|0.005649792|85.05%
View na12878 compound_heterozygous 21 rs61731656
dbSNP Clinvar 		43362295 40.0 C T ESPStandard;LowQual 0/1 4 SYNONYMOUS_CODING LOW SILENT 0.01138 0.01138 0.01217 None None None None None None C2CD2|0.005649792|85.05%

CBR3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 compound_heterozygous 21 rs881711
dbSNP Clinvar 		37507745 1123.61 C T PASS 0/1 71 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.82029 0.82030 0.15339 None None None None None None CBR3|0.052541759|61.89%
View na12878 compound_heterozygous 21 rs8133052
dbSNP Clinvar 		37507501 151.24 G A PASS 0/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.36681 0.36680 0.37228 0.60 0.00 None None None None None None CBR3|0.052541759|61.89%
View na12878 compound_heterozygous 21 rs881712
dbSNP Clinvar 		37507769 668.14 C T PASS 0/1 49 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.30851 0.30850 0.33905 None None None None None None CBR3|0.052541759|61.89%

CBS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 compound_heterozygous 21 rs234706
dbSNP Clinvar 		44485350 664.89 G A PASS 0/1 58 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.19649 0.19650 0.30609 None None None None None None CBS|0.170288794|40.28%
View na12878 compound_heterozygous 21 rs1801181
dbSNP Clinvar 		44480616 1998.59 G A PASS 0/1 108 SYNONYMOUS_CODING LOW SILENT 0.29553 0.29550 0.26269 None None None None None None CBS|0.170288794|40.28%

CLDN14
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 na12878 compound_heterozygous 21 rs219780
dbSNP Clinvar 		37833307 259.0 C T PASS 0/1 24 SYNONYMOUS_CODING LOW SILENT 0.13538 0.13540 0.22313 None None None None None None CLDN14|0.178050404|39.29%
View na12878 compound_heterozygous 21 rs219779
dbSNP Clinvar 		37833751 622.49 G A PASS 0/1 45 SYNONYMOUS_CODING LOW SILENT 0.19010 0.19010 0.27626 None None None None None None CLDN14|0.178050404|39.29%

CLDN8
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 na12878 compound_heterozygous 21 rs686364
dbSNP Clinvar 		31587793 1585.81 A G PASS 0/1 125 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.41873 0.41870 0.38428 1.00 0.00 None None None None None None CLDN8|0.022912612|72.76%

CLIC6
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 na12878 compound_heterozygous 21 rs7280973
dbSNP Clinvar 		36041978 52.32 A G PASS 1/1 2 SYNONYMOUS_CODING LOW SILENT 1.00000 1.00000 None None None None None None CLIC6|0.002510101|89.68%
View na12878 compound_heterozygous 21 rs6517254
dbSNP Clinvar 		36080290 4331.73 C T PASS 0/1 236 SYNONYMOUS_CODING LOW SILENT 0.37001 0.37000 0.46179 None None None None None None CLIC6|0.002510101|89.68%
View na12878 compound_heterozygous 21 rs9680380
dbSNP Clinvar 		36042203 48.03 G C LowQual 1/1 2 SYNONYMOUS_CODING LOW SILENT 1.00000 1.00000 None None None None None None CLIC6|0.002510101|89.68%

COL18A1
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 na12878 compound_heterozygous 21 rs2236451
dbSNP Clinvar 		46876083 826.01 A G PASS 0/1 75 SYNONYMOUS_CODING LOW SILENT 0.37560 0.37560 0.38293 None None None None None None COL18A1|0.045578537|64.02%
View na12878 compound_heterozygous 21 rs914230
dbSNP Clinvar 		46875564 6162.25 T C PASS 1/1 157 SYNONYMOUS_CODING LOW SILENT 0.98842 0.98840 0.03067 None None None None None None COL18A1|0.045578537|64.02%
View na12878 compound_heterozygous 21 rs13046486
dbSNP Clinvar 		46898243 3200.69 C G PASS 0/1 189 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.07388 0.07388 0.09354 None None None None None None COL18A1|0.045578537|64.02%
View na12878 compound_heterozygous 21 rs1050351
dbSNP Clinvar 		46929467 109.3 G A PASS 0/1 8 SYNONYMOUS_CODING LOW SILENT 0.50359 0.50360 0.37778 None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View na12878 compound_heterozygous 21 rs11702425
dbSNP Clinvar 		46908355 520.41 T C PASS 0/1 27 SYNONYMOUS_CODING LOW SILENT 0.31989 0.31990 0.31287 None None None None None None COL18A1|0.045578537|64.02%

COL6A1
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 na12878 compound_heterozygous 21 rs1053315
dbSNP Clinvar 		47423507 2227.35 G A PASS 1/1 57 SYNONYMOUS_CODING LOW SILENT 0.26817 0.26820 0.33726 None None None None None None COL6A1|0.085741402|53.99%
View na12878 compound_heterozygous 21 rs1053320
dbSNP Clinvar 		47423636 1882.35 C T PASS 1/1 49 SYNONYMOUS_CODING LOW SILENT 0.26418 0.26420 0.32713 None None None None None None COL6A1|0.085741402|53.99%
View na12878 compound_heterozygous 21 rs1053312
dbSNP Clinvar 		47423389 1924.32 G A PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.27017 0.27020 0.33961 0.11 0.00 None None None None None None COL6A1|0.085741402|53.99%
View na12878 compound_heterozygous 21 rs1980982
dbSNP Clinvar 		47410931 5391.15 T C PASS 1/1 138 SYNONYMOUS_CODING LOW SILENT 0.54493 0.54490 0.37606 None None None None None None COL6A1|0.085741402|53.99%

COL6A2
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 na12878 compound_heterozygous 21 rs2839110
dbSNP Clinvar 		47538960 670.55 G A PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.70527 0.70530 0.27077 0.91 0.00 None None None None None None COL6A2|0.07894144|55.42%
View na12878 compound_heterozygous 21 rs6652
dbSNP Clinvar 		47552385 2165.48 C T PASS 0/1 121 SYNONYMOUS_CODING LOW SILENT 0.09245 0.09245 0.16731 None None None None None None COL6A2|0.07894144|55.42%
View na12878 compound_heterozygous 21 rs9977394
dbSNP Clinvar 		47552130 504.51 A G PASS 0/1 34 SYNONYMOUS_CODING LOW SILENT 0.13978 0.13980 0.15080 None None None None None None COL6A2|0.07894144|55.42%
View na12878 compound_heterozygous 21 rs11554669
dbSNP Clinvar 		47552103 232.23 G T PASS 0/1 17 SYNONYMOUS_CODING LOW SILENT 0.01697 0.01697 0.02941 None None None None None None COL6A2|0.07894144|55.42%

CRYAA
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 na12878 compound_heterozygous 21 rs872331
dbSNP Clinvar 		44589215 4195.57 C T PASS 1/1 102 SYNONYMOUS_CODING LOW SILENT 0.50000 0.50000 0.35630 None None None None None None CRYAA|0.039898534|65.8%

CXADR
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 na12878 compound_heterozygous 21 rs437470
dbSNP Clinvar 		18937758 5760.11 A G PASS 0/1 394 SYNONYMOUS_CODING LOW SILENT 0.18710 0.18710 0.19099 None None None None None None CXADR|0.080142991|55.13%

CYYR1
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 na12878 compound_heterozygous 21 rs966410
dbSNP Clinvar 		27852724 4938.64 A G PASS 0/1 213 None None None 0.45667 0.45670 0.49116 None None None None None None CYYR1|0.026615152|71.08%

DOPEY2
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 na12878 compound_heterozygous 21 rs4817788
dbSNP Clinvar 		37617630 5401.39 T G PASS 0/1 279 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.94928 0.94930 0.09949 1.00 0.00 None None None None None None DOPEY2|0.051933664|62.08%
View na12878 compound_heterozygous 21 rs2835322
dbSNP Clinvar 		37609571 12695.2 T C PASS 1/1 335 SYNONYMOUS_CODING LOW SILENT 0.43990 0.43990 0.47424 None None None None None None DOPEY2|0.051933664|62.08%

DSCAM
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 na12878 compound_heterozygous 21 rs201894203
dbSNP Clinvar 		41648091 153.04 G T FDRtranche1.00to10.00+ 0/1 108 STOP_GAINED HIGH NONSENSE None None None None None None DSCAM|0.620706258|11.07%
View na12878 compound_heterozygous 21 rs73221349
dbSNP Clinvar 		41427767 9606.67 A G PASS 0/1 485 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.00020 0.00020 None None None None None None DSCAM|0.620706258|11.07%

ETS2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 compound_heterozygous 21 rs457705
dbSNP Clinvar 		40191431 11022.8 T G PASS 1/1 291 SYNONYMOUS_CODING LOW SILENT 0.58107 0.58110 0.22874 None None None None None None ETS2|0.453014646|18.03%
View na12878 compound_heterozygous 21 rs461155
dbSNP Clinvar 		40191638 1948.29 A G PASS 1/1 52 SYNONYMOUS_CODING LOW SILENT 0.58067 0.58070 0.22943 None None None None None None ETS2|0.453014646|18.03%

EVA1C
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 na12878 compound_heterozygous 21 rs55878843
dbSNP Clinvar 		33830006 1184.48 G A PASS 0/1 66 SYNONYMOUS_CODING LOW SILENT 0.02935 0.02935 0.05851 None None None None None None EVA1C|0.061100423|59.56%

FAM207A
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 na12878 compound_heterozygous 21 rs3737075
dbSNP Clinvar 		46396659 418.11 G C PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15216 0.15220 0.17443 1.00 0.00 None None None None None None FAM207A|0.005455719|85.27%
View na12878 compound_heterozygous 21 rs2294168
dbSNP Clinvar 		46387078 342.82 G T PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10923 0.10920 0.11783 0.07 0.48 None None None None None None FAM207A|0.005455719|85.27%

FAM3B
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 na12878 compound_heterozygous 21 rs417708
dbSNP Clinvar 		42717662 2408.25 T C PASS 1/1 63 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.91154 0.91150 0.11256 None None None None None None FAM3B|0.008580766|82.07%

GART
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 na12878 compound_heterozygous 21 rs8788
dbSNP Clinvar 		34897113 9426.82 C T PASS 1/1 222 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.87420 0.87420 0.19160 1.00 0.00 None None None None None None GART|0.670681358|9.36%

GRIK1
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 na12878 compound_heterozygous 21 rs73197503
dbSNP Clinvar 		30963448 15958.5 A G PASS 0/1 765 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00040 0.00040 0.00146 0.01 0.04 None None None None None None BACH1|0.113830282|48.51%,GRIK1|0.993633799|0.9%

HLCS
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 na12878 compound_heterozygous 21 rs1065758
dbSNP Clinvar 		38308911 5270.09 G A PASS 0/1 257 SYNONYMOUS_CODING LOW SILENT 0.07129 0.07129 0.12679 None None None None None None HLCS|0.002146669|90.61%

HUNK
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 na12878 compound_heterozygous 21 rs2070371
dbSNP Clinvar 		33368188 5997.2 T C PASS 1/1 141 SYNONYMOUS_CODING LOW SILENT 0.70308 0.70310 0.25704 None None None None None None HUNK|0.065973255|58.37%
View na12878 compound_heterozygous 21 rs10775648
dbSNP Clinvar 		33371123 2627.62 C T PASS 0/1 149 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20986 0.20990 0.17769 0.01 0.55 None None None None None None HUNK|0.065973255|58.37%
View na12878 compound_heterozygous 21 rs9305483
dbSNP Clinvar 		33370900 10543.7 T C PASS 1/1 248 SYNONYMOUS_CODING LOW SILENT 0.63478 0.63480 0.38182 None None None None None None HUNK|0.065973255|58.37%

ICOSLG
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 na12878 compound_heterozygous 21 rs11558819
dbSNP Clinvar 		45656774 1810.84 C T PASS 0/1 95 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26917 0.26920 0.28804 0.11 0.25 None None None None None None ICOSLG|0.0015876|92.37%

IFNAR2
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 na12878 compound_heterozygous 21 rs1051393
dbSNP Clinvar 		34614255 7850.22 T G PASS 0/1 442 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39177 0.39180 0.27326 0.36 0.00 None None None None None None IFNAR2|0.001133002|94.77%
View na12878 compound_heterozygous 21 rs2229207
dbSNP Clinvar 		34614250 8623.91 T C PASS 0/1 441 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11861 0.11860 0.07712 0.44 0.00 None None None None None None IFNAR2|0.001133002|94.77%

IGSF5
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 na12878 compound_heterozygous 21 rs2837200
dbSNP Clinvar 		41142940 2653.22 G A PASS 0/1 152 SYNONYMOUS_CODING LOW SILENT 0.10164 0.10160 0.22882 None None None None None None IGSF5|0.001638685|92.17%
View na12878 compound_heterozygous 21 rs2205204
dbSNP Clinvar 		41137507 6035.49 G C PASS 0/1 216 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.65955 0.65950 0.35499 1.00 0.00 None None None None None None IGSF5|0.001638685|92.17%
View na12878 compound_heterozygous 21 rs73217274
dbSNP Clinvar 		41137503 2999.34 G A PASS 0/1 208 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 0.00020 0.05 0.34 None None None None None None IGSF5|0.001638685|92.17%

ITGB2
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 na12878 compound_heterozygous 21 rs11088969
dbSNP Clinvar 		46330674 2911.93 C A PASS 0/1 151 SYNONYMOUS_CODING LOW SILENT 0.21306 0.21310 0.21716 None None None None None None ITGB2|0.063174571|59.06%
View na12878 compound_heterozygous 21 rs235326
dbSNP Clinvar 		46311813 4106.03 A G PASS 0/1 202 SYNONYMOUS_CODING LOW SILENT 0.76298 0.76300 0.24985 None None None None None None ITGB2|0.063174571|59.06%
View na12878 compound_heterozygous 21 rs235330
dbSNP Clinvar 		46314907 12365.6 T A PASS 1/1 303 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.00015 0.03 0.68 None None None None None None ITGB2|0.063174571|59.06%

ITSN1
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 na12878 compound_heterozygous 21 rs2073370
dbSNP Clinvar 		35260481 5840.6 T C PASS 1/1 148 SYNONYMOUS_CODING LOW SILENT 0.57568 0.57570 0.44887 None None None None None None ITSN1|0.349350199|24.18%
View na12878 compound_heterozygous 21 rs9976801
dbSNP Clinvar 		35237608 1152.66 T C PASS 1/1 32 SYNONYMOUS_CODING LOW SILENT 0.83167 0.83170 0.23758 None None None None None None ITSN1|0.349350199|24.18%

KCNE1
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 na12878 compound_heterozygous 21 rs1805127
dbSNP Clinvar 		35821821 5934.91 T C PASS 1/1 156 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67392 0.67390 0.33808 0.44 0.00 None None None None None None KCNE1|0.029341968|69.68%

KCNJ15
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 na12878 compound_heterozygous 21 rs2230033
dbSNP Clinvar 		39671476 19527.2 G A PASS 1/1 458 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.28874 0.28870 0.40289 0.31 0.08 None None None None None None KCNJ15|0.071459317|57.1%

KCNJ6
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 na12878 compound_heterozygous 21 rs2070995
dbSNP Clinvar 		39086965 1826.72 T C PASS 0/1 163 SYNONYMOUS_CODING LOW SILENT 0.82328 0.82330 0.16199 None None None None None None KCNJ6|0.413743485|19.94%
View na12878 compound_heterozygous 21 rs702859
dbSNP Clinvar 		38997701 14052.4 G A PASS 1/1 335 SYNONYMOUS_CODING LOW SILENT 0.77396 0.77400 0.27456 None None None None None None KCNJ6|0.413743485|19.94%

KRTAP10-1
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 na12878 compound_heterozygous 21 rs233317
dbSNP Clinvar 		45959312 7305.19 C T PASS 1/1 178 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80851 0.80850 0.17392 0.02 0.97 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-1|0.003380457|87.97%

KRTAP10-10
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 na12878 compound_heterozygous 21 rs4818947
dbSNP Clinvar 		46057548 6809.64 A C PASS 0/1 353 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.77836 0.77840 0.23235 1.00 0.00 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-10|0.003474223|87.81%
View na12878 compound_heterozygous 21 rs13051517
dbSNP Clinvar 		46058060 1168.99 C T PASS 0/1 72 SYNONYMOUS_CODING LOW SILENT 0.35583 0.35580 0.35170 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-10|0.003474223|87.81%
View na12878 compound_heterozygous 21 rs4818951
dbSNP Clinvar 		46057958 2336.56 C T PASS 0/1 149 SYNONYMOUS_CODING LOW SILENT 0.64018 0.64020 0.37813 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-10|0.003474223|87.81%
View na12878 compound_heterozygous 21 rs4818950
dbSNP Clinvar 		46057806 25370.0 G A FDRtranche1.00to10.00+ 0/1 1292 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60344 0.60340 0.40058 0.07 0.57 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-10|0.003474223|87.81%
View na12878 compound_heterozygous 21 rs2838602
dbSNP Clinvar 		46057393 966.88 T A PASS 0/1 92 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.78175 0.78170 0.23289 1.00 0.00 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-10|0.003474223|87.81%

KRTAP10-11
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 na12878 compound_heterozygous 21 rs78191358
dbSNP Clinvar 		46067184 1024.92 C T PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01218 0.01218 0.02457 0.04 0.06 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-11|0.003274675|88.13%
View na12878 compound_heterozygous 21 rs462007
dbSNP Clinvar 		46067180 3052.15 C T PASS 1/1 75 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.81609 0.81610 0.15841 0.03 0.90 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-11|0.003274675|88.13%
View na12878 compound_heterozygous 21 rs4818952
dbSNP Clinvar 		46066764 8306.53 C T PASS 0/1 424 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.77736 0.77740 0.22889 0.02 1.00 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-11|0.003274675|88.13%

KRTAP10-2
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 na12878 compound_heterozygous 21 rs2329834
dbSNP Clinvar 		45970812 22205.5 G A PASS 1/1 544 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.54752 0.54750 0.41758 0.34 0.01 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-2|0.001938306|91.13%
View na12878 compound_heterozygous 21 rs199607801
dbSNP Clinvar 		45971152 479.51 G A PASS 0/1 129 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42 0.01 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-2|0.001938306|91.13%
View na12878 compound_heterozygous 21 rs76415521
dbSNP Clinvar 		45971162 116.79 C T PASS 0/1 88 SYNONYMOUS_CODING LOW SILENT None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-2|0.001938306|91.13%
View na12878 compound_heterozygous 21 rs77233671
dbSNP Clinvar 		45971109 581.38 G A FDRtranche1.00to10.00+ 0/1 134 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13 0.02 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-2|0.001938306|91.13%

KRTAP10-3
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 na12878 compound_heterozygous 21 rs233252
dbSNP Clinvar 		45978090 5779.41 C T PASS 1/1 146 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.86901 0.86900 0.06981 0.01 0.01 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-3|0.004291375|86.6%
View na12878 compound_heterozygous 21 rs435424
dbSNP Clinvar 		45978503 2592.47 G A PASS 1/1 64 SYNONYMOUS_CODING LOW SILENT 0.86801 0.86800 0.07163 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-3|0.004291375|86.6%
View na12878 compound_heterozygous 21 rs377549
dbSNP Clinvar 		45978499 2326.39 T G PASS 1/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.86921 0.86920 0.07059 1.00 0.00 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-3|0.004291375|86.6%