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Genes:
ABCA4, ADAM15, AIM1L, ANAPC1, ANKRD24, ANXA9, APCDD1L, AQPEP, ARHGAP26, ARHGAP33, ARMC3, ASIC5, ATP11A, ATP2A3, ATP8B1, ATP8B3, B3GALTL, BIN3, C10orf53, C17orf49, CABP5, CACNA2D3, CAPN2, CAST, CBWD1, CCDC144NL, CCDC38, CCDC68, CCDC88C, CCM2, CCND2, CDC16, CDH12, CDH17, CELA3B, CEP290, CEP89, CFTR, CHAF1A, CLEC2D, CNOT6, COG3, COG5, COL15A1, COL4A4, COL5A1, COL5A3, COL6A5, CSNK1G1, CTSD, CTU2, CXXC1, DEPDC5, DGKA, DLG5, DNASE2B, DNMT3B, DSP, DTX4, DYRK4, EHMT2, EI24, EIF4B, ELMSAN1, ENTPD2, EP400, FAM124B, FAM3B, FAM98C, FHAD1, FKBP2, FLNB, FMNL2, FNBP1, FRG1, GAB4, GABRP, GAREML, GCOM1, GDPD2, GEMIN5, GNG8, GPATCH1, GRAMD1A, GRIK4, HCLS1, HEATR1, HEATR4, HEG1, HLA-C, HPS5, IRAK1BP1, IRF2, ITGA1, ITGA11, ITGA2B, ITGA4, ITGA5, KIAA1731, KRT75, KRTDAP, LASP1, LBP, LGI4, LIG1, LPHN3, LRP1B, LRRC16A, LSG1, LTBP4, MAT2B, MCOLN1, MCTP1, MED14, MEF2A, MGAM, MLC1, MLF1, MMEL1, MPC1, MRO, MRPL30, MS4A7, MTF1, MTMR7, MYH13, MYO1B, NAAA, NAV2, NCAPD2, NCAPD3, NCAPG, NCKAP1, NDNF, NEB, NEK10, NEURL4, NID2, NLRP13, NLRP5, NPC1, NUP85, OBSL1, ODF2, OSER1, PARP4, PCDH8, PDLIM3, PGS1, PIH1D1, PITRM1, PKN2, PLCB1, PLD2, POLR2A, PPP1R9B, PRRC1, PSG8, PTK2B, PXDN, QSOX2, RAP1GAP2, RBPJL, REC8, RIC3, RNF212, ROBO1, RPAIN, RRN3, RYR3, SEC14L6, SGCG, SIRPA, SLC22A7, SLC25A21, SLC25A47, SLC34A3, SLC7A11, SLC7A7, SLCO4C1, SLMAP, SMARCAD1, SPATA4, SRGAP2, SUPT16H, TEAD1, TEX14, TMEM144, TMX1, TNFRSF8, TNKS2, TNNI2, TNXB, TOM1, TRDN, TSC1, TTC3, TTC40, UNC5B, USO1, USP14, UTP15, VAV3, VCAN, VPS8, WDR19, WDR64, XPO7, ZC3H11A, ZFAND5, ZNF419, ZNF609, ZSWIM6,

Genes at Omim

ABCA4, ARHGAP26, ATP8B1, CAST, CCDC88C, CCND2, CEP290, CFTR, COG5, COL4A4, COL5A1, CTSD, CTU2, DEPDC5, DNMT3B, DSP, FLNB, HLA-C, HPS5, ITGA2B, KRT75, LGI4, LTBP4, MCOLN1, MEF2A, MLC1, MLF1, NCAPD2, NCAPD3, NEB, NPC1, NPC1, NUP85, OBSL1, PLCB1, PXDN, RNF212, SGCG, SLC34A3, SLC7A7, SMARCAD1, TEAD1, TEX14, TNNI2, TNXB, TRDN, TSC1, VCAN, WDR19, ZSWIM6,
ABCA4 Fundus flavimaculatus, 248200 (3)
{Macular degeneration, age-related, 2}, 153800 (3)
Cone-rod dystrophy 3, 604116 (3)
Retinal dystrophy, early-onset severe, 248200 (3)
Retinitis pigmentosa 19, 601718 (3)
Stargardt disease 1, 248200 (3)
ARHGAP26 Leukemia, juvenile myelomonocytic, somatic, 607785 (3)
ATP8B1 Cholestasis, benign recurrent intrahepatic, 243300 (3)
Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3)
Cholestasis, progressive familial intrahepatic 1, 211600 (3)
CAST Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3)
CCDC88C Hydrocephalus, congenital, 1, 236600 (3)
?Spinocerebellar ataxia 40, 616053 (3)
CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 (3)
CEP290 Joubert syndrome 5, 610188 (3)
Leber congenital amaurosis 10, 611755 (3)
Meckel syndrome 4, 611134 (3)
?Bardet-Biedl syndrome 14, 615991 (3)
Senior-Loken syndrome 6, 610189 (3)
CFTR {Hypertrypsinemia, neonatal} (3)
Congenital bilateral absence of vas deferens, 277180 (3)
Cystic fibrosis, 219700 (3)
{Pancreatitis, hereditary}, 167800 (3)
Sweat chloride elevation without CF (3)
{Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)
COG5 Congenital disorder of glycosylation, type IIi, 613612 (3)
COL4A4 Alport syndrome 2, autosomal recessive, 203780 (3)
Hematuria, familial benign, 141200 (3)
COL5A1 Ehlers-Danlos syndrome, classic type, 1, 130000 (3)
CTSD Ceroid lipofuscinosis, neuronal, 10, 610127 (3)
CTU2 Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 (3)
DEPDC5 Epilepsy, familial focal, with variable foci 1, 604364 (3)
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
DSP Arrhythmogenic right ventricular dysplasia 8, 607450 (3)
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)
Epidermolysis bullosa, lethal acantholytic, 609638 (3)
Keratosis palmoplantaris striata II, 612908 (3)
Skin fragility-woolly hair syndrome, 607655 (3)
FLNB Atelosteogenesis, type I, 108720 (3)
Atelosteogenesis, type III, 108721 (3)
Boomerang dysplasia, 112310 (3)
Larsen syndrome, 150250 (3)
Spondylocarpotarsal synostosis syndrome, 272460 (3)
HLA-C {HIV-1 viremia, susceptibility to}, 609423 (3)
{Psoriasis susceptibility 1}, 177900 (3)
HPS5 Hermansky-Pudlak syndrome 5, 614074 (3)
ITGA2B Glanzmann thrombasthenia, 273800 (3)
Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3)
Thrombocytopenia, neonatal alloimmune, BAK antigen related (3)
KRT75 {Pseudofolliculitis barbae, susceptibility to}, 612318 (3)
LGI4 Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3)
LTBP4 Cutis laxa, autosomal recessive, type IC, 613177 (3)
MCOLN1 Mucolipidosis IV, 252650 (3)
MEF2A {Coronary artery disease, autosomal dominant, 1}, 608320 (3)
MLC1 Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3)
MLF1 Leukemia, acute myeloid, 601626 (1)
NCAPD2 ?Microcephaly 21, primary, autosomal recessive, 617983 (3)
NCAPD3 Microcephaly 22, primary, autosomal recessive, 617984 (3)
NEB Nemaline myopathy 2, autosomal recessive, 256030 (3)
NPC1 Niemann-Pick disease, type C1, 257220 (3)
Niemann-Pick disease, type D, 257220 (3)
NPC1 {Nasopharyngeal carcinoma 1} (2)
NUP85 Nephrotic syndrome, type 17, 618176 (3)
OBSL1 3-M syndrome 2, 612921 (3)
PLCB1 Epileptic encephalopathy, early infantile, 12, 613722 (3)
PXDN Anterior segment dysgenesis 7, with sclerocornea, 269400 (3)
RNF212 Recombination rate QTL 1, 612042 (3)
SGCG Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 (3)
SLC34A3 Hypophosphatemic rickets with hypercalciuria, 241530 (3)
SLC7A7 Lysinuric protein intolerance, 222700 (3)
SMARCAD1 Adermatoglyphia, 136000 (3)
Basan syndrome, 129200 (3)
Huriez syndrome, 181600 (3)
TEAD1 Sveinsson chorioretinal atrophy, 108985 (3)
TEX14 ?Spermatogenic failure 23, 617707 (3)
TNNI2 Arthrogryposis multiplex congenita, distal, type 2B, 601680 (3)
TNXB Ehlers-Danlos syndrome, classic-like, 1 606408 (3)
Vesicoureteral reflux 8, 615963 (3)
TRDN Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3)
TSC1 Focal cortical dysplasia, type II, somatic, 607341 (3)
Lymphangioleiomyomatosis, 606690 (3)
Tuberous sclerosis-1, 191100 (3)
VCAN Wagner syndrome 1, 143200 (3)
WDR19 Nephronophthisis 13, 614377 (3)
?Cranioectodermal dysplasia 4, 614378 (3)
?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3)
Senior-Loken syndrome 8, 616307 (3)
ZSWIM6 Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 (3)
Acromelic frontonasal dysostosis, 603671 (3)

Genes at Clinical Genomics Database

ABCA4, ATP8B1, CAST, CCDC88C, CCM2, CCND2, CEP290, CFTR, COG5, COL4A4, COL5A1, CTSD, DEPDC5, DNMT3B, DSP, FLNB, GRIK4, HPS5, ITGA2B, KRT75, LTBP4, MCOLN1, MLC1, MPC1, NEB, NPC1, OBSL1, PLCB1, PXDN, SGCG, SLC34A3, SLC7A7, SMARCAD1, TEAD1, TNNI2, TNXB, TRDN, TSC1, VCAN, WDR19, ZSWIM6,
ABCA4 Cone-rod dystrophy 3
Retinitis pigmentosa 19
Stargardt disease 1
Retinal dystrophy, early-onset severe
Fundus flavimaculatus
ATP8B1 Familial intrahepatic cholestasis, recurrent
Cholestasis, progressive familial intrahepatic 1
Intrahepatic cholestasis of pregnancy
CAST Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK)
CCDC88C Spinocerebellar ataxia 40
CCM2 Cerebral cavernous malformations 2
CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
CEP290 Leber congenital amaurosis 10
Meckel syndrome 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
CFTR Cystic fibrosis
COG5 Congenital disorder of glycosylation, type IIi
COL4A4 Alport syndrome, autosomal recessive
COL5A1 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
CTSD Ceroid lipofuscinosis, neuronal, 10
DEPDC5 Epilepsy, familial focal, with variable foci
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1
DSP Arrhythmogenic right ventricular dysplasia, familial 8
Cardiomyopathy, dilated, with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
FLNB Larsen syndrome
Spondylocarpotarsal synostosis syndrome
Boomerang dysplasia
Atelosteogenesis, type I
Atelosteogenesis, type III
GRIK4 Response to antidepressant treatment with citalopram
HPS5 Hermansky-Pudlak syndrome 5
ITGA2B Glanzmann thrombasthenia
KRT75 Pseudofolliculitis barbae
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MCOLN1 Mucolipidosis IV
MLC1 Megalencephalic leukoencephalopathy with subcortical cysts
MPC1 Mitochondrial pyruvate carrier deficiency
NEB Nemaline myopathy 2
NPC1 Niemann-Pick disease, type C1
Niemann-Pick disease, type D
OBSL1 Three M syndrome 2
PLCB1 Epileptic encephalopathy, early infantile, 12
PXDN Corneal opacification with other ocular anomalies
SGCG Muscular dystrophy, limb-girdle, type 2C
SLC34A3 Hypophosphatemic rickets with hypercalciuria, hereditary
SLC7A7 Lysinuric protein intolerance
SMARCAD1 Adermatoglyphia
TEAD1 Sveinsson choreoretinal atrophy
TNNI2 Arthrogryposis multiplex congenita, distal, type 2B
TNXB Vesicoureteral reflux 8
Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
TRDN Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
TSC1 Tuberous sclerosis
Lymphangioleiomyomatosis
VCAN Wagner syndrome 1
WDR19 Short-rib thoracic dysplasia 5 with or without polydactyly
Cranioectodermal dysplasia 4
Nephronophthisis 13
Retinitis pigmentosa
Senior-Loken syndrome 8
ZSWIM6 Acromelic frontonasal dysostosis

Genes at HGMD

Summary

Number of Variants: 219
Number of Genes: 213

Export to: CSV

ABCA4

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 073_tsvc_variants 1 rs1801555
dbSNP Clinvar
94466659 519.799 A G PASS 1/1 55 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.30112 0.30110 0.29886 None None None None None None ABCA4|0.440503373|18.63%

ADAM15

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 073_tsvc_variants 1 rs11589479
dbSNP Clinvar
155033308 259.99 G A PASS 0/1 165 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.07508 0.07508 0.12279 None None None None None None ADAM15|0.077192579|55.85%

AIM1L

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 073_tsvc_variants 1 rs11247919
dbSNP Clinvar
26664968 84.3353 C T PASS 0/1 80 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.28614 0.28610 0.42081 None None None None None None AIM1L|0.109158012|49.38%

ANAPC1

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 073_tsvc_variants 2 rs4848197
dbSNP Clinvar
112605302 67.2621 C T PASS 0/1 24 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.56250 0.56250 None None None None None None ANAPC1|0.14646446|43.53%

ANKRD24

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 073_tsvc_variants 19 rs61742016
dbSNP Clinvar
4207964 361.529 C T PASS 0/1 130 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.04253 0.04253 0.04275 None None None None None None ANKRD24|0.006993334|83.48%

ANXA9

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 073_tsvc_variants 1 rs7532008
dbSNP Clinvar
150960350 244.713 A C PASS 0/1 139 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.49181 0.49180 0.35315 None None None None None None ANXA9|0.051149554|62.29%

APCDD1L

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 073_tsvc_variants 20 rs1980576
dbSNP Clinvar
57045667 75.6376 T C PASS 0/1 33 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.45986 0.45990 0.43048 None None None None None None APCDD1L|0.016982669|75.86%

AQPEP

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 073_tsvc_variants 5 rs10078748
dbSNP Clinvar
115341611 197.531 G T PASS 0/1 78 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.77676 0.77680 0.18315 None None None None None None None

ARHGAP26

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 073_tsvc_variants 5 rs258819
dbSNP Clinvar
142593652 1609.89 C T PASS 1/1 167 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.99641 0.99640 0.00377 None None None None None None ARHGAP26|0.689373516|8.81%

ARHGAP33

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 073_tsvc_variants 19 rs62112163
dbSNP Clinvar
36275074 66.6884 G A PASS 0/1 45 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.18331 0.18330 0.15949 None None None None None None ARHGAP33|0.074124913|56.5%

ARMC3

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 073_tsvc_variants 10 rs11817610
dbSNP Clinvar
23297301 171.07 C T PASS 0/1 68 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.50000 0.50000 0.47916 None None None None None None ARMC3|0.037067211|66.75%

ASIC5

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 073_tsvc_variants 4 rs6848883
dbSNP Clinvar
156787340 1350.96 G A PASS 1/1 140 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.84844 0.84840 0.16333 None None None None None None ASIC5|0.031479338|68.79%,TDO2|0.067292674|58.09%

ATP11A

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 073_tsvc_variants 13 rs1290177
dbSNP Clinvar
113536132 239.761 T C PASS 0/1 176 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.56490 0.56490 0.46179 None None None None None None ATP11A|0.13314168|45.42%

ATP2A3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 073_tsvc_variants 17 rs3179783
dbSNP Clinvar
3840928 59.3667 A G PASS 0/1 60 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.20747 0.20750 0.24189 None None None None None None ATP2A3|0.0615045|59.44%

ATP8B1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 073_tsvc_variants 18 rs319438
dbSNP Clinvar
55364852 1580.65 A G PASS 1/1 168 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.99461 0.99460 0.00692 None None None None None None ATP8B1|0.161108429|41.4%

ATP8B3

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 073_tsvc_variants 19 rs3764606
dbSNP Clinvar
1784944 141.211 A G PASS 0/1 41 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.42951 0.42950 0.47849 None None None None None None ATP8B3|0.003576519|87.64%

B3GALTL

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 073_tsvc_variants 13 rs4943266
dbSNP Clinvar
31821992 513.442 T C PASS 1/1 58 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.97544 0.97540 0.03601 None None None None None None B3GALTL|0.110722838|49.06%

BIN3

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 073_tsvc_variants 8 rs11550509
dbSNP Clinvar
22526559 62.6037 G A PASS 0/1 26 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.09884 0.09884 0.18878 None None None None None None BIN3|0.312765796|26.64%

C10orf53

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 073_tsvc_variants 10 rs1133837
dbSNP Clinvar
50901938 163.61 C T PASS 0/1 52 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.35304 0.35300 0.44049 None None None None None None C10orf53|0.004766771|86.14%

C17orf49

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 073_tsvc_variants 17 rs14309
dbSNP Clinvar
6919093 101.957 T C PASS 1/1 11 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.75739 0.75740 0.22774 None None None None None None RNASEK-C17orf49|0.371919774|22.61%,C17orf49|0.341426499|24.73%

CABP5

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 073_tsvc_variants 19 rs8105198
dbSNP Clinvar
48543862 1352.39 G A PASS 1/1 143 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.78674 0.78670 0.22897 None None None None None None CABP5|0.074903985|56.31%

CACNA2D3

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 073_tsvc_variants 3 rs10510774
dbSNP Clinvar
54919351 162.863 A G PASS 0/1 58 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.05671 0.05671 0.11308 None None None None None None CACNA2D3|0.956528589|2.05%

CAPN2

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 073_tsvc_variants 1 rs17596
dbSNP Clinvar
223905532 166.412 G A PASS 0/1 89 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.59545 0.59540 0.33746 None None None None None None CAPN2|0.174674652|39.7%

CAST

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 073_tsvc_variants 5 rs7724759
dbSNP Clinvar
96076487 90.3324 G A PASS 0/1 23 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.17492 0.17490 0.24704 None None None None None None CAST|0.162925975|41.16%

CBWD1

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 073_tsvc_variants 9 . 154795 750.848 T C PASS 1/1 82 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.78694 0.23615 None None None None None None CBWD1|0.029140848|69.81%

CCDC144NL

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 073_tsvc_variants 17 rs8073465
dbSNP Clinvar
20798992 171.41 C T PASS 0/1 75 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.09924 0.09924 0.11110 None None None None None None CCDC144NL|0.000779475|96.79%
View 073_tsvc_variants 17 rs79433424
dbSNP Clinvar
20769862 47.9989 T A PASS 0/1 70 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None CCDC144NL|0.000779475|96.79%

CCDC38

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 073_tsvc_variants 12 rs2117914
dbSNP Clinvar
96266035 110.136 T C PASS 0/1 68 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.14457 0.14460 0.18976 None None None None None None SNRPF|0.684587962|8.96%,CCDC38|0.005707397|84.96%

CCDC68

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 073_tsvc_variants 18 rs1344011
dbSNP Clinvar
52605188 45.3473 C T PASS 0/1 36 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.17792 0.17790 0.16800 None None None None None None CCDC68|0.06035994|59.77%

CCDC88C

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 073_tsvc_variants 14 rs1970912
dbSNP Clinvar
91773568 968.524 T C PASS 1/1 102 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.48043 0.48040 0.42060 None None None None None None CCDC88C|0.052356783|61.96%

CCM2

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 073_tsvc_variants 7 rs2289367
dbSNP Clinvar
45113170 24.7819 G A PASS 0/1 17 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.21985 0.21980 0.22736 None None None None None None CCM2|0.292416184|28.19%

CCND2

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 073_tsvc_variants 12 rs3217805
dbSNP Clinvar
4388084 502.267 C G PASS 0/1 201 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.21985 0.21980 0.32631 None None None None None None CCND2|0.94794487|2.32%

CDC16

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 073_tsvc_variants 13 rs8809
dbSNP Clinvar
115030714 101.331 T C PASS 0/1 21 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.36941 0.36940 0.35422 None None None None None None CDC16|0.574269029|12.84%

CDH12

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 073_tsvc_variants 5 rs17839323
dbSNP Clinvar
21842436 264.32 A G PASS 0/1 108 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.06090 0.06090 0.04882 None None None None None None CDH12|0.569953447|12.98%

CDH17

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 073_tsvc_variants 8 rs35792427
dbSNP Clinvar
95161102 208.438 G A PASS 0/1 72 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.12680 0.12680 0.09995 None None None None None None CDH17|0.034427264|67.65%

CELA3B

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 073_tsvc_variants 1 rs1803531
dbSNP Clinvar
22310824 1110.06 T C PASS 1/1 119 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.89317 0.89320 0.05368 None None None None None None CELA3B|0.015617411|76.71%

CEP290

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 073_tsvc_variants 12 rs45465996
dbSNP Clinvar
88505633 345.624 A G PASS 0/1 173 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.06889 0.06889 0.13844 None None None None None None CEP290|0.560411435|13.34%

CEP89

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 073_tsvc_variants 19 rs10411735
dbSNP Clinvar
33444707 207.737 C T PASS 0/1 86 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.39836 0.39840 0.35007 None None None None None None CEP89|0.007695004|82.86%

CFTR

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 073_tsvc_variants 7 rs1800095
dbSNP Clinvar
117199709 269.476 G A PASS 0/1 109 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.01058 0.01058 0.01438 None None None None None None CFTR|0.947527653|2.33%

CHAF1A

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 073_tsvc_variants 19 rs2230636
dbSNP Clinvar
4409756 263.7 A G PASS 0/1 104 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.13818 0.13820 0.19391 None None None None None None CHAF1A|0.043730551|64.6%

CLEC2D

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 073_tsvc_variants 12 rs3764021
dbSNP Clinvar
9833628 335.981 C T PASS 0/1 157 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.46466 0.46470 0.49831 None None None None None None CLEC2D|0.000737719|97.09%

CNOT6

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 073_tsvc_variants 5 rs6877400
dbSNP Clinvar
179996111 1965.49 C T PASS 1/1 206 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.14647 None None None None None None CNOT6|0.652785136|9.99%

COG3

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 073_tsvc_variants 13 rs3014960
dbSNP Clinvar
46077381 231.771 G A PASS 1/1 25 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.90336 0.90340 0.09573 None None None None None None COG3|0.283875936|28.81%

COG5

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 073_tsvc_variants 7 rs17349904
dbSNP Clinvar
106897237 40.2132 A C PASS 0/1 35 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.12979 0.12980 0.15893 None None None None None None COG5|0.360996774|23.37%

COL15A1

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 073_tsvc_variants 9 rs7854112
dbSNP Clinvar
101804329 193.122 T C PASS 0/1 71 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.15036 0.15040 0.11871 None None None None None None COL15A1|0.059345569|60.08%

COL4A4

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 073_tsvc_variants 2 rs2228556
dbSNP Clinvar
227892619 69.5047 C T PASS 0/1 27 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.49181 0.49180 0.45464 None None None None None None COL4A4|0.099677436|51.24%

COL5A1

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 073_tsvc_variants 9 rs3827848
dbSNP Clinvar
137707834 2251.35 G A PASS 1/1 239 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.12979 0.12980 0.14178 None None None None None None COL5A1|0.207487878|35.85%

COL5A3

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 073_tsvc_variants 19 rs1559186
dbSNP Clinvar
10106936 735.963 G C PASS 1/1 77 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.39497 0.39500 0.41921 None None None None None None COL5A3|0.039580114|65.88%

COL6A5

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 073_tsvc_variants 3 rs10212372
dbSNP Clinvar
130104206 761.66 A G PASS 1/1 86 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.40176 0.40180 None None None None None None COL6A5|0.015397469|76.88%

CSNK1G1

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 073_tsvc_variants 15 rs6494466
dbSNP Clinvar
64508763 104.265 G A PASS 0/1 92 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.48542 0.48540 0.46202 None None None None None None CSNK1G1|0.679298986|9.11%

CTSD

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 073_tsvc_variants 11 rs2230067
dbSNP Clinvar
1780867 428.278 G A PASS 1/1 58 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.05531 0.05531 0.06423 None None None None None None CTSD|0.098615939|51.46%

CTU2

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 073_tsvc_variants 16 rs2290896
dbSNP Clinvar
88779032 199.779 G C PASS 0/1 79 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.09465 0.09465 0.10802 None None None None None None CTU2|0.007426883|83.12%

CXXC1

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 073_tsvc_variants 18 rs17660776
dbSNP Clinvar
47811374 339.826 G A PASS 0/1 176 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.10923 0.10920 0.13586 None None None None None None CXXC1|0.180356139|38.99%

DEPDC5

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 073_tsvc_variants 22 rs5998135
dbSNP Clinvar
32205632 246.142 A C PASS 0/1 59 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.08946 0.08946 0.10847 None None None None None None DEPDC5|0.189227738|37.92%

DGKA

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 073_tsvc_variants 12 rs1136082
dbSNP Clinvar
56335107 2593.34 A G PASS 1/1 276 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.84764 0.84760 0.14663 None None None None None None DGKA|0.088457304|53.54%

DLG5

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 073_tsvc_variants 10 rs1248634
dbSNP Clinvar
79579222 216.776 G A PASS 0/1 124 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.25539 0.25540 0.22690 None None None None None None DLG5|0.1770919|39.42%

DNASE2B

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 073_tsvc_variants 1 rs7511984
dbSNP Clinvar
84878228 158.331 C T PASS 0/1 62 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.13558 0.13560 0.18507 None None None None None None DNASE2B|0.074448603|56.42%

DNMT3B

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 073_tsvc_variants 20 rs2424922
dbSNP Clinvar
31386449 83.9162 T C PASS 0/1 71 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.75579 0.75580 0.42227 None None None None None None DNMT3B|0.978021249|1.52%

DSP

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 073_tsvc_variants 6 rs1016835
dbSNP Clinvar
7576527 73.5207 G A PASS 0/1 37 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.73542 0.73540 0.25188 None None None None None None DSP|0.573194355|12.87%

DTX4

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 073_tsvc_variants 11 rs12796683
dbSNP Clinvar
58940278 92.9609 G T PASS 0/1 30 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.25200 0.25200 0.19687 None None None None None None DTX4|0.13409479|45.25%

DYRK4

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 073_tsvc_variants 12 rs3741925
dbSNP Clinvar
4705317 262.455 C T PASS 0/1 182 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.23622 0.23620 0.22743 None None None None None None DYRK4|0.071661902|57.07%

EHMT2

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 073_tsvc_variants 6 rs535586
dbSNP Clinvar
31860337 3085.99 T C PASS 1/1 322 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.83327 0.83330 0.25190 None None None None None None EHMT2|0.178387468|39.23%

EI24

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 073_tsvc_variants 11 rs4627097
dbSNP Clinvar
125452313 236.043 A G PASS 0/1 123 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.34046 0.34050 0.35699 None None None None None None EI24|0.31494271|26.44%

EIF4B

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 073_tsvc_variants 12 rs8916
dbSNP Clinvar
53433486 2009.42 C T PASS 1/1 213 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.75379 0.75380 0.19484 None None None None None None EIF4B|0.258261547|30.89%

ELMSAN1

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 073_tsvc_variants 14 rs2075025
dbSNP Clinvar
74196686 379.222 T C PASS 0/1 231 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.60403 0.60400 0.44585 None None None None None None ELMSAN1|0.126163876|46.42%

ENTPD2

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 073_tsvc_variants 9 rs4880083
dbSNP Clinvar
139944736 106.971 C G PASS 0/1 50 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None ENTPD2|0.020384427|73.98%

EP400

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 073_tsvc_variants 12 rs61944617
dbSNP Clinvar
132528724 44.0208 C T PASS 0/1 37 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00559 0.00559 0.00369 None None None None None None EP400|0.051215115|62.27%

FAM124B

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 073_tsvc_variants 2 rs3738953
dbSNP Clinvar
225244923 202.167 A G PASS 0/1 115 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.23083 0.23080 0.16579 None None None None None None FAM124B|0.019574426|74.39%

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 073_tsvc_variants 21 rs417708
dbSNP Clinvar
42717662 423.685 T C PASS 1/1 45 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.91154 0.91150 0.11256 None None None None None None FAM3B|0.008580766|82.07%

FAM98C

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 073_tsvc_variants 19 rs3745957
dbSNP Clinvar
38893856 119.784 G C PASS 0/1 66 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.13059 0.13060 0.04454 None None None None None None FAM98C|0.016115397|76.41%

FHAD1

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 073_tsvc_variants 1 rs75432354
dbSNP Clinvar
15599025 432.03 G A PASS 0/1 146 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.12760 0.12760 0.12352 None None None None None None FHAD1|0.011540707|79.54%

FKBP2

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 073_tsvc_variants 11 rs654573
dbSNP Clinvar
64011441 289.276 T C PASS 1/1 33 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.97684 0.97680 0.02039 None None None None None None FKBP2|0.081255498|54.93%

FLNB

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 073_tsvc_variants 3 rs2362904
dbSNP Clinvar
58112488 531.664 C T PASS 0/1 226 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.64856 0.64860 0.40243 None None None None None None FLNB|0.587014407|12.25%

FMNL2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 073_tsvc_variants 2 rs4664114
dbSNP Clinvar
153378459 516.327 T C PASS 1/1 57 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.69070 0.69070 0.34572 None None None None None None FMNL2|0.571016453|12.93%

FNBP1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 073_tsvc_variants 9 rs17519205
dbSNP Clinvar
132720770 277.134 A G PASS 0/1 83 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.09085 0.09085 0.08416 None None None None None None FNBP1|0.157796914|41.89%

FRG1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 073_tsvc_variants 4 rs75112782
dbSNP Clinvar
190881992 65.3608 T C PASS 0/1 18 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None FRG1|0.098149242|51.5%

GAB4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 073_tsvc_variants 22 rs4819925
dbSNP Clinvar
17446991 198.346 C T PASS 0/1 94 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.82528 0.82530 0.18408 None None None None None None GAB4|0.003932508|87.14%

GABRP

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 073_tsvc_variants 5 rs7725726
dbSNP Clinvar
170215670 274.01 G A PASS 0/1 148 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.24561 0.24560 0.20006 None None None None None None GABRP|0.137969377|44.71%

GAREML

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 073_tsvc_variants 2 rs4665830
dbSNP Clinvar
26399214 1127.51 G A PASS 1/1 121 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.81170 0.81170 0.26456 None None None None None None GAREML|0.097511197|51.62%

GCOM1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 073_tsvc_variants 15 rs2958059
dbSNP Clinvar
57918090 556.716 A G PASS 1/1 64 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None GCOM1|0.172662114|39.98%,MYZAP|0.150722079|42.86%,POLR2M|0.038007903|66.46%

GDPD2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 073_tsvc_variants X rs2296542
dbSNP Clinvar
69652762 388.087 A G PASS 0/1 137 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.85192 0.85190 0.17012 None None None None None None GDPD2|0.107206407|49.75%

GEMIN5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 073_tsvc_variants 5 rs816736
dbSNP Clinvar
154271948 1007.58 G A PASS 1/1 116 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.95148 0.95150 0.04767 None None None None None None GEMIN5|0.180064442|39.04%

GNG8

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 073_tsvc_variants 19 rs12974613
dbSNP Clinvar
47137459 83.1545 C T PASS 0/1 20 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.21106 0.21110 0.32257 None None None None None None GNG8|0.153964917|42.42%

GPATCH1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 073_tsvc_variants 19 rs2287681
dbSNP Clinvar
33608733 115.928 C A PASS 0/1 95 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.36142 0.36140 0.25050 None None None None None None GPATCH1|0.063745069|58.94%

GRAMD1A

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 073_tsvc_variants 19 rs2290647
dbSNP Clinvar
35506729 462.962 G A PASS 0/1 262 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.25539 0.25540 0.30418 None None None None None None GRAMD1A|0.103950782|50.42%

GRIK4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 073_tsvc_variants 11 rs2156634
dbSNP Clinvar
120776001 1523.29 G A PASS 1/1 157 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.87800 0.87800 0.11927 None None None None None None GRIK4|0.59773792|11.84%

HCLS1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 073_tsvc_variants 3 rs3772126
dbSNP Clinvar
121354583 254.963 G A PASS 1/1 27 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.21825 0.21830 0.18768 None None None None None None HCLS1|0.153988686|42.41%

HEATR1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 073_tsvc_variants 1 rs4518892
dbSNP Clinvar
236744712 292.027 C A PASS 1/1 30 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.41474 0.41470 0.47855 None None None None None None HEATR1|0.11883394|47.61%

HEATR4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 073_tsvc_variants 14 rs8014577
dbSNP Clinvar
73963383 412.473 T C PASS 1/1 44 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.80970 0.80970 0.23750 None None None None None None HEATR4|0.005039419|85.75%

HEG1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 073_tsvc_variants 3 rs59232004
dbSNP Clinvar
124738107 401.888 C T PASS 1/1 43 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.49221 0.49220 0.46343 None None None None None None HEG1|0.04030264|65.66%

HLA-C

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 073_tsvc_variants 6 rs2308604
dbSNP Clinvar
31238851 267.346 T C PASS 1/1 27 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.26576 None None None None None None HLA-C|0.028815016|70%

HPS5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 073_tsvc_variants 11 rs1140047
dbSNP Clinvar
18327684 222.074 G T PASS 0/1 55 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.80471 0.80470 0.28774 None None None None None None HPS5|0.115331572|48.24%

IRAK1BP1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 073_tsvc_variants 6 rs6908105
dbSNP Clinvar
79595097 21.4974 A G PASS 0/1 20 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.26558 0.26560 0.33490 None None None None None None IRAK1BP1|0.071304062|57.14%

IRF2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 073_tsvc_variants 4 rs1131553
dbSNP Clinvar
185310218 157.27 C T PASS 0/1 123 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.42312 0.42310 0.37683 None None None None None None IRF2|0.420786971|19.54%

ITGA1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 073_tsvc_variants 5 rs1531545
dbSNP Clinvar
52193287 245.759 C T PASS 0/1 131 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.63379 0.63380 0.43465 None None None None None None ITGA1|0.38715487|21.59%

ITGA11

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 073_tsvc_variants 15 rs75281777
dbSNP Clinvar
68643740 247.423 G C PASS 0/1 187 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00359 0.00359 0.00593 None None None None None None ITGA11|0.205733649|36.04%
View 073_tsvc_variants 15 rs898591
dbSNP Clinvar
68603625 1282.91 C T PASS 1/1 142 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.98542 0.98540 0.01042 None None None None None None ITGA11|0.205733649|36.04%

ITGA2B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 073_tsvc_variants 17 rs5910
dbSNP Clinvar
42449789 726.998 G A PASS 0/1 310 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.39736 0.39740 0.38244 None None None None None None ITGA2B|0.174861798|39.66%

ITGA4

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 073_tsvc_variants 2 rs7562325
dbSNP Clinvar
182399097 627.696 T C PASS 1/1 66 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.65695 0.65690 0.39618 None None None None None None ITGA4|0.417712401|19.71%
View 073_tsvc_variants 2 rs1143674
dbSNP Clinvar
182374534 86.7583 A G PASS 1/1 9 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.66154 0.66150 0.39954 None None None None None None ITGA4|0.417712401|19.71%