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+ Genes 261

Genes:
ABCA1, ABCA2, ADAMTS13, ADAMTSL1, ADAMTSL2, AIF1L, AK1, AKNA, ALDH1B1, ANGPTL2, ANKRD18B, AQP7, ARHGEF39, ARID3C, ARRDC1, ASB6, ASPN, ASS1, ASTN2, BAAT, BRD3, BRINP1, BSPRY, C8G, C9orf114, C9orf117, C9orf129, C9orf131, C9orf152, C9orf163, C9orf171, C9orf172, C9orf66, C9orf69, C9orf96, CA9, CACFD1, CACNA1B, CARD9, CCDC107, CCDC180, CCDC183, CCIN, CDK20, CDK5RAP2, CEP78, CNTLN, CNTNAP3, CNTNAP3B, COL15A1, COL27A1, COL5A1, COQ4, CRAT, CRB2, DAPK1, DBH, DDX31, DFNB31, DMRT1, DNM1, DOCK8, DPM2, DPP7, ECM2, EGFL7, EHMT1, ENDOG, ENTPD8, ERMP1, EXD3, FAM102A, FAM120A, FAM154A, FAM205A, FAM214B, FAM221B, FAM73B, FAM78A, FBP1, FBP2, FBXO10, FCN1, FCN2, FGD3, FIBCD1, FKBP15, FNBP1, FOCAD, FOXD4, FREM1, FRMPD1, FXN, GALT, GBA2, GLIS3, GLT6D1, GNA14, GOLGA1, GPR107, GPR144, GPSM1, GRIN3A, IFNA21, IFNA4, IFNB1, IFNW1, IFT74, IKBKAP, IL33, INPP5E, KANK1, KCNT1, KIAA0020, KIAA1161, KIF24, KIF27, LAMC3, LCN12, LHX2, LMX1B, LRRC8A, LRSAM1, LURAP1L, MAMDC2, MAMDC4, MAN1B1, MAPKAP1, MOB3B, MPDZ, MRPS2, NAA35, NACC2, NEK6, NINJ1, NIPSNAP3A, NOTCH1, NOXA1, NPR2, NR5A1, NTNG2, NUP188, NUTM2F, OBP2A, OLFM1, OLFML2A, OR13C3, OR13F1, OR13J1, OR1B1, OR1L4, OR1L6, OR1L8, OR1N1, OR1N2, OR1Q1, OR2K2, OR2S2, ORM1, PAPPA, PCSK5, PHYHD1, PIGO, PIP5K1B, PIP5KL1, PMPCA, PNPLA7, POMT1, PPAPDC3, PPP1R26, PPP6C, PRRC2B, PRSS3, PRUNE2, PSAT1, PTCH1, PTGDS, PTGES, PTGS1, QRFP, RABL6, RAD23B, RALGDS, RAPGEF1, RASEF, RC3H2, RGS3, RLN1, RNF20, RNF224, ROR2, RUSC2, SARDH, SDCCAG3, SEC16A, SEMA4D, SETX, SH2D3C, SHB, SHC3, SLC1A1, SLC24A2, SLC25A25, SLC28A3, SLC2A6, SLC2A8, SLC34A3, SLC46A2, SMARCA2, SMC5, SNAPC4, SNX30, SOHLH1, SPAG8, SPATA31A6, SPATA31D1, SPATA31E1, SPTAN1, STX17, SURF1, SURF2, SUSD3, SVEP1, TAF1L, TBC1D13, TEK, TJP2, TLE1, TLE4, TLN1, TMEM8C, TNC, TOMM5, TOR2A, TPD52L3, TRPM3, TRPM6, TTC16, TTF1, TUSC1, UAP1L1, UBAC1, UBAP2, UBQLN1, UCK1, UHRF2, USP20, VAV2, WDR34, WDR38, WDR5, WNK2, ZBTB43, ZBTB5, ZCCHC6, ZDHHC12, ZFP37, ZNF169, ZNF189, ZNF462, ZNF79,

+ Genes associated with diseases 63

Genes at Omim

ABCA1, ADAMTS13, ADAMTSL2, AK1, AQP7, ASPN, ASS1, BAAT, CACNA1B, CARD9, CDK5RAP2, CEP78, COL27A1, COL5A1, COQ4, CRAT, CRB2, DBH, DNM1, DOCK8, DPM2, EHMT1, FBP1, FREM1, FXN, GALT, GBA2, GLIS3, IFT74, IKBKAP, INPP5E, KANK1, KCNT1, LAMC3, LMX1B, LRRC8A, LRSAM1, MAN1B1, MPDZ, MRPS2, NOTCH1, NPR2, NR5A1, PIGO, PMPCA, POMT1, PSAT1, PTCH1, ROR2, RUSC2, SARDH, SETX, SLC1A1, SLC34A3, SMARCA2, SOHLH1, SPTAN1, SURF1, TEK, TJP2, TNC, TRPM6, WDR34,
ABCA1 HDL deficiency, type 2, 604091 (3)
Tangier disease, 205400 (3)
{Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3)
ADAMTS13 Thrombotic thrombocytopenic purpura, familial, 274150 (3)
ADAMTSL2 Geleophysic dysplasia 1, 231050 (3)
AK1 Hemolytic anemia due to adenylate kinase deficiency, 612631 (3)
AQP7 [Glycerol quantitative trait locus], 614411 (3)
ASPN {Lumbar disc degeneration}, 603932 (3)
{Osteoarthritis susceptibility 3}, 607850 (3)
ASS1 Citrullinemia, 215700 (3)
BAAT Hypercholanemia, familial, 607748 (3)
CACNA1B ?Dystonia 23, 614860 (3)
CARD9 Candidiasis, familial, 2, autosomal recessive, 212050 (3)
CDK5RAP2 Microcephaly 3, primary, autosomal recessive, 604804 (3)
CEP78 Cone-rod dystrophy and hearing loss, 617236 (3)
COL27A1 Steel syndrome, 615155 (3)
COL5A1 Ehlers-Danlos syndrome, classic type, 1, 130000 (3)
COQ4 Coenzyme Q10 deficiency, primary, 7, 616276 (3)
CRAT ?Neurodegeneration with brain iron accumulation 8, 617917 (3)
CRB2 Focal segmental glomerulosclerosis 9, 616220 (3)
Ventriculomegaly with cystic kidney disease, 219730 (3)
DBH Orthostatic hypotension 1, due to DBH deficiency, 223360 (3)
DNM1 Epileptic encephalopathy, early infantile, 31, 616346 (3)
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
DPM2 Congenital disorder of glycosylation, type Iu, 615042 (3)
EHMT1 Kleefstra syndrome 1, 610253 (3)
FBP1 Fructose-1,6-bisphosphatase deficiency, 229700 (3)
FREM1 Bifid nose with or without anorectal and renal anomalies, 608980 (3)
Manitoba oculotrichoanal syndrome, 248450 (3)
Trigonocephaly 2, 614485 (3)
FXN Friedreich ataxia with retained reflexes, 229300 (3)
Friedreich ataxia, 229300 (3)
GALT Galactosemia, 230400 (3)
GBA2 Spastic paraplegia 46, autosomal recessive, 614409 (3)
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)
IFT74 ?Bardet-Biedl syndrome 20, 617119 (3)
IKBKAP Dysautonomia, familial, 223900 (3)
INPP5E Joubert syndrome 1, 213300 (3)
Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)
KANK1 Cerebral palsy, spastic quadriplegic, 2, 612900 (3)
KCNT1 Epilepsy, nocturnal frontal lobe, 5, 615005 (3)
Epileptic encephalopathy, early infantile, 14, 614959 (3)
LAMC3 Cortical malformations, occipital, 614115 (3)
LMX1B Nail-patella syndrome, 161200 (3)
LRRC8A ?Agammaglobulinemia 5, 613506 (3)
LRSAM1 Charcot-Marie-Tooth disease, axonal, type 2P, 614436 (3)
MAN1B1 Mental retardation, autosomal recessive 15, 614202 (3)
MPDZ Hydrocephalus, congenital, 2, with or without brain or eye anomalies, 615219 (3)
MRPS2 Combined oxidative phosphorylation deficiency 36, 617950 (3)
NOTCH1 Adams-Oliver syndrome 5, 616028 (3)
Aortic valve disease 1, 109730 (3)
NPR2 Epiphyseal chondrodysplasia, Miura type, 615923 (3)
Acromesomelic dysplasia, Maroteaux type, 602875 (3)
Short stature with nonspecific skeletal abnormalities, 616255 (3)
NR5A1 Adrenocortical insufficiency, 612964 (3)
Premature ovarian failure 7, 612964 (3)
46, XX sex reversal 4, 617480 (3)
46XY sex reversal 3, 612965 (3)
Spermatogenic failure 8, 613957 (3)
PIGO Hyperphosphatasia with mental retardation syndrome 2, 614749 (3)
PMPCA Spinocerebellar ataxia, autosomal recessive 2, 213200 (3)
POMT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3)
PSAT1 Neu-Laxova syndrome 2, 616038 (3)
?Phosphoserine aminotransferase deficiency, 610992 (3)
PTCH1 Basal cell carcinoma, somatic, 605462 (3)
Basal cell nevus syndrome, 109400 (3)
Holoprosencephaly 7, 610828 (3)
ROR2 Brachydactyly, type B1, 113000 (3)
Robinow syndrome, autosomal recessive, 268310 (3)
RUSC2 Mental retardation, autosomal recessive 61, 617773 (3)
SARDH [Sarcosinemia], 268900 (3)
SETX Amyotrophic lateral sclerosis 4, juvenile, 602433 (3)
Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)
SLC1A1 Dicarboxylic aminoaciduria, 222730 (3)
{?Schizophrenia susceptibility 18}, 615232 (3)
SLC34A3 Hypophosphatemic rickets with hypercalciuria, 241530 (3)
SMARCA2 Nicolaides-Baraitser syndrome, 601358 (3)
SOHLH1 Ovarian dysgenesis 5, 617690 (3)
Spermatogenic failure 32, 618115 (3)
SPTAN1 Epileptic encephalopathy, early infantile, 5, 613477 (3)
SURF1 Charcot-Marie-Tooth disease, type 4K, 616684 (3)
Leigh syndrome, due to COX IV deficiency, 256000 (3)
TEK Glaucoma 3, primary congenital, E, 617272 (3)
Venous malformations, multiple cutaneous and mucosal, 600195 (3)
TJP2 Cholestasis, progressive familial intrahepatic 4, 615878 (3)
Hypercholanemia, familial, 607748 (3)
TNC Deafness, autosomal dominant 56, 615629 (3)
TRPM6 Hypomagnesemia 1, intestinal, 602014 (3)
WDR34 Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)

Genes at Clinical Genomics Database

ABCA1, ADAMTS13, ADAMTSL2, AK1, ASS1, BAAT, CACNA1B, CARD9, CDK5RAP2, COL27A1, COL5A1, COQ4, CRB2, DBH, DNM1, DOCK8, DPM2, EHMT1, FBP1, FREM1, FXN, GALT, GBA2, GLIS3, IKBKAP, INPP5E, KANK1, KCNT1, LAMC3, LMX1B, LRRC8A, LRSAM1, MAN1B1, MPDZ, NOTCH1, NPR2, NR5A1, PIGO, PMPCA, POMT1, PSAT1, PTCH1, ROR2, SETX, SLC1A1, SLC34A3, SMARCA2, SPTAN1, SURF1, TEK, TJP2, TNC, TRPM6, WDR34,
ABCA1 ABCA1 deficiency
Tangier disease
HDL deficiency, type 2
ADAMTS13 Thrombotic thrombocytopenic purpura, familial
Schulman-Upshaw syndrome
ADAMTSL2 Geleophysic dysplasia 1
AK1 Adenylate kinase deficiency, hemolytic anemia due to
ASS1 Citrullinemia
BAAT Hypercholanemia, familial
CACNA1B Dystonia 23
CARD9 Candidiasis, familial, 2
CDK5RAP2 Microcephaly, primary autosomal recessive, 3
COL27A1 Steel syndrome
COL5A1 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
COQ4 Coenzyme Q10 deficiency 7
CRB2 Focal segmental glomerulosclerosis 9
Ventriculomegaly with cystic kidney disease
DBH Dopamine beta-hydroxylase deficiency
DNM1 Epileptic encephalopathy, early infantile 31
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive
DPM2 Congenital disorder of glycosylation, type Iu
EHMT1 Kleefstra syndrome
FBP1 Fructose-1,6-bisphosphatase deficiency
FREM1 Bifid nose with or without anorectal and renal anomalies
Trigonocephaly 2
Manitoba oculotrichoanal syndrome
Congenital diaphragmatic hernia, autosomal recessive
FXN Friedreich ataxia
GALT Galactosemia
GBA2 Cerebellar ataxia with spasticity, autosomal recessive
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism
IKBKAP Dysautonomia, familial
INPP5E Joubert syndrome 1
Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)
KANK1 Cerebral palsy, spastic quadriplegic, 2
KCNT1 Epilepsy, nocturnal frontal lobe, 5
Early infantile epileptic encephalopathy 14
LAMC3 Cortical malformations, occipital
LMX1B Nail-patella syndrome
LRRC8A Agammaglobulinemia 5
LRSAM1 Charcot-Marie-Tooth disease, axonal, type 2P
MAN1B1 Mental retardation, autosomal recessive 15
MPDZ Hydrocephalus, nonsyndromic, autosomal recessive 2
NOTCH1 Aortic valve disease
NPR2 Epiphyseal chondrodysplasia, Miura type
Short stature with nonspecific skeletal abnormalities
Acromesomelic dysplasia, Maroteaux type
NR5A1 Adrenocortical insufficiency
46, XY sex reversal, 3
Premature ovarian failure 7
PIGO Hyperphosphatasia with mental retardation syndrome 2
PMPCA Spinocerebellar ataxia, autosomal recessive 2
POMT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
PSAT1 Phosphoserine aminotransferase deficiency
PTCH1 Basal cell nevus syndrome
ROR2 Robinow syndrome, autosomal recessive
Brachydactyly, type B1
SETX Spinocerebellar ataxia, autosomal recessive 1
Amyotrophic lateral sclerosis 4, juvenile
Ataxia with oculomotor apraxia, type 2
SLC1A1 Dicarboxylic aminoaciduria
SLC34A3 Hypophosphatemic rickets with hypercalciuria, hereditary
SMARCA2 Nicolaides-Baraitser syndrome
SPTAN1 Epileptic encephalopathy, early infantile, 5
SURF1 Charcot-Marie-Tooth disease type 4K
Leigh syndrome
TEK Venous malformations, multiple cutaneous and mucosal
TJP2 Hypercholanemia, familial
Cholestasis, progressive familial intrahepatic 4
TNC Deafness, autosomal dominant 56
TRPM6 Hypomagnesemia 1, intestinal
WDR34 Short -rib thoracic dysplasia 11 with or without polydactyly

Genes at HGMD

Summary

Number of Variants: 1196
Number of Genes: 261

Export to: CSV

OR1B1
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 tsvc_variants_ionxpress_032 9 rs1556189
dbSNP Clinvar 		125390874 628.818 A C PASS 1/1 81 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.82149 0.82150 0.23789 0.42 0.00 None None None None None None OR1B1|0.014476392|77.51%
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 tsvc_variants_ionxpress_032 9 rs2417062
dbSNP Clinvar 		130715922 1706.16 A G PASS 1/1 229 None None None 0.84066 0.84070 0.05728 None None None None None None FAM102A|0.149407366|43.1%

FAM102A
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 tsvc_variants_ionxpress_032 9 rs2274426
dbSNP Clinvar 		130707081 1356.08 A G PASS 1/1 188 SYNONYMOUS_CODING LOW SILENT 0.70008 0.70010 0.18238 None None None None None None FAM102A|0.149407366|43.1%

OR1B1
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 tsvc_variants_ionxpress_032 9 rs1476858
dbSNP Clinvar 		125391026 427.595 A C PASS 1/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.75220 0.75220 0.29002 0.26 0.00 None None None None None None OR1B1|0.014476392|77.51%
View tsvc_variants_ionxpress_032 9 rs1536929
dbSNP Clinvar 		125391369 1145.86 A G PASS 1/1 162 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.64137 0.64140 0.34346 0.42 0.01 None None None None None None OR1B1|0.014476392|77.51%

DPM2
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 tsvc_variants_ionxpress_032 9 rs6781
dbSNP Clinvar 		130698043 491.076 A G PASS 1/1 66 None None None 0.73103 0.73100 0.19430 None None None None None None DPM2|0.072712633|56.84%

OR1B1
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 tsvc_variants_ionxpress_032 9 rs1536928
dbSNP Clinvar 		125391409 1156.16 A G PASS 1/1 163 SYNONYMOUS_CODING LOW SILENT 0.41014 0.41010 0.47570 None None None None None None OR1B1|0.014476392|77.51%
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 tsvc_variants_ionxpress_032 9 rs12337754
dbSNP Clinvar 		125746612 97.098 A T PASS 0/1 56 None None None 0.19569 0.19570 None None None None None None RABGAP1|0.569104615|13.04%

OR1N1
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 tsvc_variants_ionxpress_032 9 rs16911867
dbSNP Clinvar 		125289083 145.194 A G PASS 0/1 75 SYNONYMOUS_CODING LOW SILENT 0.39058 0.39060 0.32208 None None None None None None OR1N1|0.001184653|94.52%

OR1Q1
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 tsvc_variants_ionxpress_032 9 rs972925
dbSNP Clinvar 		125377087 613.596 A G PASS 1/1 83 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.82268 0.82270 0.23128 0.05 0.01 None None None None None None OR1Q1|0.017041553|75.82%
View tsvc_variants_ionxpress_032 9 rs1329957
dbSNP Clinvar 		125377505 392.396 A G PASS 1/1 53 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.88179 0.88180 0.13355 1.00 0.00 None None None None None None OR1Q1|0.017041553|75.82%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs10739712
dbSNP Clinvar 		130854127 1178.35 A G PASS 1/1 158 None None None 0.91154 0.91150 0.08398 None None None None None None SLC25A25|0.261649443|30.61%
View tsvc_variants_ionxpress_032 9 rs2796471
dbSNP Clinvar 		84207857 1001.9 A G PASS 1/1 135 None None None 0.18291 0.18290 None None None None None None TLE1|0.907652554|3.29%
View tsvc_variants_ionxpress_032 9 rs1043012
dbSNP Clinvar 		130670652 529.38 A G PASS 1/1 73 None None None 0.93490 0.93490 0.06479 None None None None None None ST6GALNAC4|0.167070929|40.66%
View tsvc_variants_ionxpress_032 9 rs2302590
dbSNP Clinvar 		125861741 80.2324 A C PASS 0/1 51 None None None 0.15795 0.15790 0.02868 None None None None None None RABGAP1|0.569104615|13.04%
View tsvc_variants_ionxpress_032 9 rs4240420
dbSNP Clinvar 		130341253 709.722 A G PASS 1/1 96 None None None 0.83247 0.83250 0.15939 None None None None None None FAM129B|0.135042686|45.09%
View tsvc_variants_ionxpress_032 9 rs2278972
dbSNP Clinvar 		141015351 655.51 A G PASS 1/1 85 None None None 0.27256 0.27260 0.29458 None None None None None None CACNA1B|0.168604934|40.5%
View tsvc_variants_ionxpress_032 9 rs700081
dbSNP Clinvar 		125861888 48.576 A G PASS 0/1 51 None None None 0.68191 0.68190 0.19098 None None None None None None RABGAP1|0.569104615|13.04%

SPATA31E1
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 tsvc_variants_ionxpress_032 9 rs7850542
dbSNP Clinvar 		90500405 754.105 A C PASS 1/1 100 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.76178 0.76180 0.34361 1.00 0.00 None None None None None None SPATA31E1|0.000162728|99.84%

CRB2
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 tsvc_variants_ionxpress_032 9 rs2488601
dbSNP Clinvar 		126135715 644.607 A G PASS 1/1 87 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97624 0.97620 0.02453 0.84 0.00 None None None None None None CRB2|0.035723803|67.22%
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 tsvc_variants_ionxpress_032 9 rs2259680
dbSNP Clinvar 		78936205 422.814 A G PASS 1/1 60 None None None 0.31889 0.31890 None None None None None None PCSK5|0.396702016|20.98%
View tsvc_variants_ionxpress_032 9 rs2245051
dbSNP Clinvar 		130269786 1025.22 A G PASS 1/1 138 None None None 0.62240 0.62240 None None None None None None FAM129B|0.135042686|45.09%
View tsvc_variants_ionxpress_032 9 rs748741
dbSNP Clinvar 		127089775 175.882 A G PASS 0/1 170 None None None 0.30571 0.30570 0.36081 None None None None None None NEK6|0.322263569|26%
View tsvc_variants_ionxpress_032 9 rs2248822
dbSNP Clinvar 		130259618 955.74 A C PASS 1/1 129 None None None 0.72883 0.72880 0.26142 None None None None None None LRSAM1|0.185634768|38.28%

GPR144
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 tsvc_variants_ionxpress_032 9 rs7861556
dbSNP Clinvar 		127215344 101.08 A G PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.77416 0.77420 0.76 0.00 None None None None None None ADGRD2|0.010439319|80.54%
View tsvc_variants_ionxpress_032 9 rs4838184
dbSNP Clinvar 		127228596 143.339 A G PASS 0/1 121 SYNONYMOUS_CODING LOW SILENT 0.75020 0.75020 None None None None None None ADGRD2|0.010439319|80.54%

OLFML2A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs7874348
dbSNP Clinvar 		127566378 619.786 A G PASS 1/1 83 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.81989 0.81990 0.27195 0.82 0.00 None None None None None None OLFML2A|0.122107318|47.1%

WDR38
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 tsvc_variants_ionxpress_032 9 rs12375547
dbSNP Clinvar 		127616537 103.058 A G PASS 0/1 119 SYNONYMOUS_CODING LOW SILENT 0.45268 0.45270 0.44782 None None None None None None WDR38|0.014330009|77.62%
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 tsvc_variants_ionxpress_032 9 rs13297725
dbSNP Clinvar 		91978539 140.341 A T PASS 0/1 128 None None None 0.38379 0.38380 None None None None None None SEMA4D|0.019426315|74.47%
View tsvc_variants_ionxpress_032 9 rs2244624
dbSNP Clinvar 		130213508 540.874 A G PASS 1/1 71 None None None 0.56110 0.56110 0.41005 None None None None None None RPL12|0.334599743|25.13%

WDR38
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 tsvc_variants_ionxpress_032 9 rs2274970
dbSNP Clinvar 		127618776 747.037 A G PASS 1/1 100 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.90096 0.90100 0.04102 1.00 0.00 None None None None None None WDR38|0.014330009|77.62%
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 tsvc_variants_ionxpress_032 9 rs7864593
dbSNP Clinvar 		128201098 519.715 A G PASS 1/1 58 None None None 0.99980 0.99980 None None None None None None MAPKAP1|0.970497768|1.7%

ZNF79
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 tsvc_variants_ionxpress_032 9 rs4504745
dbSNP Clinvar 		130197414 1089.88 A G PASS 1/1 151 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.56090 0.56090 0.39144 0.12 0.00 None None None None None None ZNF79|0.034605495|67.59%
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 tsvc_variants_ionxpress_032 9 rs2297865
dbSNP Clinvar 		129930892 181.04 A G PASS 0/1 121 None None None 0.28974 0.28970 None None None None None None RALGPS1|0.437653651|18.81%
View tsvc_variants_ionxpress_032 9 rs7465881
dbSNP Clinvar 		92003749 87.1072 A G PASS 0/1 85 None None None 0.41953 0.41950 0.43434 None None None None None None SEMA4D|0.019426315|74.47%

PCSK5
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 tsvc_variants_ionxpress_032 9 rs1110223
dbSNP Clinvar 		78936492 624.541 A G PASS 1/1 84 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.31889 0.31890 0.36397 1.00 0.00 None None None None None None PCSK5|0.396702016|20.98%
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 tsvc_variants_ionxpress_032 9 rs1760132
dbSNP Clinvar 		93639803 900.73 A G PASS 1/1 123 None None None 1.00000 1.00000 None None None None None None SYK|0.389151875|21.47%

ECM2
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 tsvc_variants_ionxpress_032 9 rs34518968
dbSNP Clinvar 		95263216 224.713 A G PASS 0/1 114 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00080 0.00080 0.00246 0.02 0.42 None None None None None None CENPP|0.015429847|76.86%,ECM2|0.030691019|69.11%
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 tsvc_variants_ionxpress_032 9 rs10821054
dbSNP Clinvar 		95784485 105.449 A T PASS 0/1 85 None None None 0.61721 0.61720 None None None None None None FGD3|0.008156059|82.5%
View tsvc_variants_ionxpress_032 9 rs4341217
dbSNP Clinvar 		95840077 172.837 A G PASS 0/1 140 None None None 0.38598 0.38600 0.36237 None None None None None None SUSD3|0.004837078|86.04%

SUSD3
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 tsvc_variants_ionxpress_032 9 rs1131773
dbSNP Clinvar 		95840256 242.625 A G PASS 0/1 137 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.27855 0.27860 0.23935 1.00 0.00 None None None None None None SUSD3|0.004837078|86.04%

NUP188
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 tsvc_variants_ionxpress_032 9 rs2287363
dbSNP Clinvar 		131767668 92.1704 A C PASS 0/1 89 SYNONYMOUS_CODING LOW SILENT 0.45168 0.45170 0.42534 None None None None None None NUP188|0.250759428|31.46%
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 tsvc_variants_ionxpress_032 9 rs2302811
dbSNP Clinvar 		131761899 343.213 A G PASS 0/1 144 None None None 0.27915 0.27920 0.29571 None None None None None None NUP188|0.250759428|31.46%
View tsvc_variants_ionxpress_032 9 rs17481317
dbSNP Clinvar 		131757125 87.0294 A G PASS 0/1 85 None None None 0.05651 0.05651 0.04729 None None None None None None NUP188|0.250759428|31.46%
View tsvc_variants_ionxpress_032 9 rs2290580
dbSNP Clinvar 		140901146 99.4695 A G PASS 0/1 55 None None None 0.42931 0.42930 None None None None None None CACNA1B|0.168604934|40.5%

PHYHD1
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 tsvc_variants_ionxpress_032 9 rs2273866
dbSNP Clinvar 		131702891 123.889 A G PASS 0/1 122 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35144 0.35140 0.36945 0.06 0.00 None None None None None None PHYHD1|0.045235214|64.15%
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 tsvc_variants_ionxpress_032 9 rs4077811
dbSNP Clinvar 		95840344 172.019 A G PASS 0/1 99 None None None 0.27536 0.27540 None None None None None None SUSD3|0.004837078|86.04%
View tsvc_variants_ionxpress_032 9 rs7871272
dbSNP Clinvar 		95992213 853.189 A G PASS 1/1 111 None None None 0.94709 0.94710 None None None None None None WNK2|0.026889185|70.95%
View tsvc_variants_ionxpress_032 9 rs7034745
dbSNP Clinvar 		140881314 40.5221 A C PASS 0/1 58 None None None 0.42153 0.42150 0.30820 None None None None None None CACNA1B|0.168604934|40.5%
View tsvc_variants_ionxpress_032 9 rs2310021
dbSNP Clinvar 		74300640 69.4214 A G PASS 0/1 74 None None None 0.88638 0.88640 0.17853 None None None None None None TMEM2|0.195352214|37.22%
View tsvc_variants_ionxpress_032 9 rs34797584
dbSNP Clinvar 		78937877 694.23 A G PASS 1/1 93 None None None 0.31849 0.31850 None None None None None None PCSK5|0.396702016|20.98%
View tsvc_variants_ionxpress_032 9 rs4744202
dbSNP Clinvar 		96015377 573.137 A G PASS 1/1 77 None None None 0.94828 0.94830 0.02932 None None None None None None WNK2|0.026889185|70.95%
View tsvc_variants_ionxpress_032 9 rs2293964
dbSNP Clinvar 		131592150 227.036 A G PASS 0/1 140 None None None 0.08327 0.08327 None None None None None None None
View tsvc_variants_ionxpress_032 9 rs4744203
dbSNP Clinvar 		96015398 39.7094 A T PASS 0/1 57 None None None 0.52097 0.52100 0.36566 None None None None None None WNK2|0.026889185|70.95%

WNK2
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 tsvc_variants_ionxpress_032 9 rs2169756
dbSNP Clinvar 		96051521 197.372 A G PASS 0/1 200 SYNONYMOUS_CODING LOW SILENT 0.92053 0.92050 0.09442 None None None None None None WNK2|0.026889185|70.95%
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 tsvc_variants_ionxpress_032 9 rs113705053
dbSNP Clinvar 		131587027 70.3084 A AG PASS 0/1 143 None None None 0.07927 0.07927 0.05896 None None None None None None C9orf114|0.115068599|48.31%
View tsvc_variants_ionxpress_032 9 rs66868150
dbSNP Clinvar 		97055210 119.726 A T PASS 0/1 82 None None None 0.04613 0.04613 0.07515 None None None None None None ZNF169|0.004471768|86.43%
View tsvc_variants_ionxpress_032 9 rs2490582
dbSNP Clinvar 		79009106 614.616 A C PASS 1/1 84 START_GAINED LOW 0.99940 0.99940 0.00094 None None None None None None RFK|0.049264247|62.87%
View tsvc_variants_ionxpress_032 9 rs2292900
dbSNP Clinvar 		97346979 133.646 A G PASS 0/1 88 None None None 0.06250 0.06250 0.06028 None None None None None None FBP2|0.167809688|40.58%
View tsvc_variants_ionxpress_032 9 rs408876
dbSNP Clinvar 		99013663 392.396 A G PASS 1/1 53 None None None 0.86741 0.86740 0.11971 None None None None None None HSD17B3|0.021209783|73.59%
View tsvc_variants_ionxpress_032 9 rs10760577
dbSNP Clinvar 		131553768 912.641 A G PASS 1/1 123 None None None 0.99661 0.99660 0.00508 None None None None None None TBC1D13|0.229054913|33.44%

TRPM6
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 tsvc_variants_ionxpress_032 9 rs7859201
dbSNP Clinvar 		77415284 133.166 A C PASS 0/1 109 SYNONYMOUS_CODING LOW SILENT 0.46086 0.46090 0.47578 None None None None None None TRPM6|0.228011373|33.52%

PTGDS
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 tsvc_variants_ionxpress_032 9 rs4880179
dbSNP Clinvar 		139872048 534.777 A G PASS 1/1 72 SYNONYMOUS_CODING LOW SILENT 0.95487 0.95490 0.05931 None None None None None None PTGDS|0.006824526|83.66%

CCDC180
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 tsvc_variants_ionxpress_032 9 rs3747496
dbSNP Clinvar 		100087345 427.084 A G PASS 1/1 58 SYNONYMOUS_CODING LOW SILENT 0.59804 0.59800 0.44533 None None None None None None CCDC180|0.009048134|81.61%
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 tsvc_variants_ionxpress_032 9 rs2805779
dbSNP Clinvar 		100366953 711.662 A G PASS 1/1 99 None None None 0.63738 0.63740 None None None None None None TSTD2|0.104350821|50.35%

OR13F1
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 tsvc_variants_ionxpress_032 9 rs1403812
dbSNP Clinvar 		107266844 1227.23 A G PASS 1/1 165 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.78395 0.78390 0.22843 0.02 0.03 None None None None None None OR13F1|0.019568583|74.39%

WDR34
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 tsvc_variants_ionxpress_032 9 rs2298045
dbSNP Clinvar 		131403096 129.092 A G PASS 0/1 99 SYNONYMOUS_CODING LOW SILENT 0.74002 0.74000 0.16454 None None None None None None WDR34|0.025599871|71.5%

DFNB31
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 tsvc_variants_ionxpress_032 9 rs2274159
dbSNP Clinvar 		117166246 1319.28 A G PASS 1/1 178 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40635 0.40630 0.41073 1.00 0.00 None None None None None None DFNB31|0.180385449|38.98%
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 tsvc_variants_ionxpress_032 9 rs10760569
dbSNP Clinvar 		131394297 428.51 A G PASS 1/1 57 None None None 0.87780 0.87780 None None None None None None SPTAN1|0.694942404|8.65%
View tsvc_variants_ionxpress_032 9 rs4744605
dbSNP Clinvar 		73213610 179.712 A G PASS 0/1 102 None None None 0.80332 0.80330 0.21682 None None None None None None TRPM3|0.835876516|4.95%
View tsvc_variants_ionxpress_032 9 rs512951
dbSNP Clinvar 		79259850 244.216 A G PASS 0/1 173 None None None 0.64816 0.64820 0.37660 None None None None None None PRUNE2|0.26380863|30.4%
View tsvc_variants_ionxpress_032 9 rs2271869
dbSNP Clinvar 		139848273 453.683 A G PASS 1/1 58 None None None 0.60184 0.60180 0.49184 None None None None None None LCN12|0.000332469|99.29%

SPTAN1
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 tsvc_variants_ionxpress_032 9 rs10760566
dbSNP Clinvar 		131346218 610.561 A C PASS 1/1 82 SYNONYMOUS_CODING LOW SILENT 0.96985 0.96980 0.02991 None None None None None None SPTAN1|0.694942404|8.65%

PRUNE2
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 tsvc_variants_ionxpress_032 9 rs680775
dbSNP Clinvar 		79322674 480.934 A G PASS 1/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.78634 0.78630 0.25107 0.04 0.00 None None None None None None PRUNE2|0.26380863|30.4%

C8G
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 tsvc_variants_ionxpress_032 9 rs7850844
dbSNP Clinvar 		139840543 434.474 A G PASS 1/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96725 0.96730 0.04834 1.00 0.00 None None None None None None C8G|0.005774139|84.88%

DFNB31
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 tsvc_variants_ionxpress_032 9 rs4979387
dbSNP Clinvar 		117186677 1840.38 A G PASS 1/1 250 SYNONYMOUS_CODING LOW SILENT 0.83007 0.83010 0.23789 None None None None None None DFNB31|0.180385449|38.98%
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 tsvc_variants_ionxpress_032 9 . 117783561 34.8595 A G PASS 0/1 58 None None None None None None None None None TNC|0.889154664|3.7%
View tsvc_variants_ionxpress_032 9 rs1617917
dbSNP Clinvar 		117848112 1404.3 A T PASS 1/1 187 None None None 0.32009 0.32010 0.31747 None None None None None None TNC|0.889154664|3.7%
View tsvc_variants_ionxpress_032 9 rs2295741
dbSNP Clinvar 		119382768 351.728 A G PASS 0/1 107 None None None 0.39756 0.39760 0.39828 None None None None None None ASTN2|0.952118309|2.19%
View tsvc_variants_ionxpress_032 9 rs932974
dbSNP Clinvar 		123342275 541.479 A G PASS 1/1 70 None None None 0.96546 0.96550 0.04121 None None None None None None CDK5RAP2|0.080331777|55.08%

PRUNE2
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 tsvc_variants_ionxpress_032 9 rs611461
dbSNP Clinvar 		79325615 1231.65 A G PASS 1/1 170 SYNONYMOUS_CODING LOW SILENT 0.78534 0.78530 0.25146 None None None None None None PRUNE2|0.26380863|30.4%
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 tsvc_variants_ionxpress_032 9 rs2025846
dbSNP Clinvar 		80022415 39.1661 A T PASS 0/1 63 None None None 0.58467 0.58470 0.47708 None None None None None None VPS13A|0.225004241|33.87%
View tsvc_variants_ionxpress_032 9 rs1238420
dbSNP Clinvar 		125144145 697.896 A G PASS 1/1 94 None None None 0.97923 0.97920 None None None None None None PTGS1|0.344290863|24.55%
View tsvc_variants_ionxpress_032 9 rs2232629
dbSNP Clinvar 		130914434 915.566 A G PASS 1/1 127 None None None 0.96026 0.96030 0.05098 None None None None None None LCN2|0.006275945|84.33%

TLE4
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 tsvc_variants_ionxpress_032 9 rs1934610
dbSNP Clinvar 		82187750 764.669 A G PASS 1/1 103 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.98762 0.98760 0.01989 None None None None None None TLE4|0.875577828|4.08%
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 tsvc_variants_ionxpress_032 9 rs4837241
dbSNP Clinvar 		130886906 584.273 A G PASS 1/1 81 None None None 0.97524 0.97520 None None None None None None PTGES2|0.069133036|57.69%

SETX
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 tsvc_variants_ionxpress_032 9 rs2296869
dbSNP Clinvar 		135172412 401.57 A G PASS 1/1 54 SYNONYMOUS_CODING LOW SILENT 0.44169 0.44170 0.30717 None None None None None None SETX|0.030104605|69.35%
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 tsvc_variants_ionxpress_032 9 rs2296873
dbSNP Clinvar 		135158619 145.031 A T PASS 0/1 75 None None None 0.15515 0.15520 0.05982 None None None None None None SETX|0.030104605|69.35%
View tsvc_variants_ionxpress_032 9 rs12682790
dbSNP Clinvar 		131823349 374.525 A G PASS 0/1 182 None None None 0.05751 0.05751 None None None None None None FAM73B|0.118365307|47.68%
View tsvc_variants_ionxpress_032 9 rs17148869
dbSNP Clinvar 		135150461 126.22 A C PASS 0/1 62 None None None 0.25040 0.25040 None None None None None None SETX|0.030104605|69.35%

NTNG2
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 tsvc_variants_ionxpress_032 9 rs4962173
dbSNP Clinvar 		135105964 376.227 A G PASS 1/1 51 None None None 0.99860 0.99860 0.00300 1.00 0.00 None None None None None None NTNG2|0.232492234|33.16%
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 tsvc_variants_ionxpress_032 9 rs586017
dbSNP Clinvar 		35100569 1756.11 A G PASS 1/1 237 None None None 0.69649 0.69650 0.23720 None None None None None None STOML2|0.651061922|10.07%
View tsvc_variants_ionxpress_032 9 rs2510246
dbSNP Clinvar 		136672493 69.5558 A G PASS 0/1 72 None None None 0.39736 0.39740 0.41958 None None None None None None VAV2|0.159643763|41.61%
View tsvc_variants_ionxpress_032 9 rs10115191
dbSNP Clinvar 		34729452 666.962 A G PASS 1/1 90 START_GAINED LOW 0.63698 0.63700 0.39685 None None None None None None FAM205A|0.002678483|89.31%
View tsvc_variants_ionxpress_032 9 rs1179033
dbSNP Clinvar 		136234124 1082.23 A G PASS 1/1 149 None None None 1.00000 1.00000 None None None None None None SURF4|0.153305322|42.48%
View tsvc_variants_ionxpress_032 9 rs556766
dbSNP Clinvar 		35089048 425.849 A C PASS 1/1 57 None None None 0.98403 0.98400 0.01768 None None None None None None PIGO|0.20697732|35.9%
View tsvc_variants_ionxpress_032 9 rs2274563
dbSNP Clinvar 		135164107 84.9392 A C PASS 0/1 61 None None None 0.09685 0.09685 None None None None None None SETX|0.030104605|69.35%
View tsvc_variants_ionxpress_032 9 rs3780730
dbSNP Clinvar 		35375069 71.2304 A G PASS 0/1 55 None None None 0.23323 0.23320 0.15046 None None None None None None UNC13B|0.580998968|12.52%

RUSC2
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 tsvc_variants_ionxpress_032 9 rs1535422
dbSNP Clinvar 		35546735 500.819 A G PASS 1/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96506 0.96510 0.04421 0.66 0.00 None None None None None None RUSC2|0.167410131|40.6%
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 tsvc_variants_ionxpress_032 9 rs1558873
dbSNP Clinvar 		132396655 748.009 A G PASS 1/1 99 None None None 0.01637 0.01637 None None None None None None NTMT1|0.139033566|44.54%