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Genes:
AADAT, AASDH, ABLIM2, AC021860.1, AC068620.1, AC079341.1, AC093323.1, AC093677.1, AC097381.1, ACOX3, ACSL1, ADAMTS3, ADH1B, ADH1C, ADH4, ADH5, ADH6, AFAP1, AFM, AFP, AGA, ALB, ALPK1, AMBN, AMTN, ANK2, ANKRD17, ANKRD37, ANKRD50, ANTXR2, ANXA10, AP001816.1, APBB2, ARAP2, ARHGAP10, ARHGAP24, ARHGEF38, ARSJ, ASB5, ASIC5, ATP10D, ATP8A1, BANK1, BBS12, BMP2K, BMP3, BOD1L1, BST1, BTC, C4orf17, C4orf19, C4orf21, C4orf22, C4orf27, C4orf32, C4orf33, C4orf36, C4orf45, C4orf48, C4orf50, CABS1, CBR4, CC2D2A, CCDC109B, CCDC110, CCDC158, CCDC96, CCNA2, CCNG2, CCNI, CD38, CDS1, CEP44, CFI, CHRNA9, CLCN3, CLDN24, CLGN, CLNK, CLOCK, CLRN2, CNOT6L, COL25A1, COQ2, CORIN, COX18, CPE, CPEB2, CPZ, CRIPAK, CRMP1, CSN1S1, CSN2, CSN3, CWH43, CXCL1, CXCL5, CYP4V2, CYTL1, DAPP1, DCAF4L1, DCHS2, DCLK2, DCTD, DCUN1D4, DDIT4L, DDX60, DDX60L, DGKQ, DKK2, DMP1, DOK7, DRD5, DSPP, DTHD1, EDNRA, EGF, ELF2, ENAM, ENOPH1, ENPEP, ENPP6, EPHA5, EREG, ERVMER34-1, ETFDH, EVC, EVC2, EXOC1, F11, FABP2, FAM114A1, FAM149A, FAM160A1, FAM175A, FAM184B, FAM198B, FAM200B, FAM218A, FAM47E, FAM53A, FAT1, FAT4, FBXL5, FBXO8, FGB, FGF5, FGFBP1, FGFBP2, FGFR3, FGFRL1, FHDC1, FRAS1, FREM3, FRG1, FRYL, FSTL5, GAB1, GABRA2, GABRB1, GABRG1, GAK, GALNTL6, GAR1, GBA3, GC, GLRA3, GLRB, GPR125, GPR78, GPRIN3, GRID2, GRK4, GRSF1, GRXCR1, GSX2, GUCY1A3, GUCY1B3, GUF1, GYPB, HADH, HAUS3, HELQ, HERC3, HERC5, HERC6, HGFAC, HMX1, HOPX, HPSE, HSD17B11, HTN3, HTT, IBSP, IDUA, IL21, ING2, INPP4B, INTS12, INTU, KCNIP4, KDR, KIAA0922, KIAA1109, KIAA1211, KIAA1239, KIAA1430, KIT, KLB, KLF3, KLHL2, KLHL5, KLKB1, LAP3, LARP1B, LCORL, LDB2, LETM1, LGI2, LIAS, LIMCH1, LIN54, LINC00955, LNX1, LPHN3, LRBA, LRIT3, LRP2BP, LYAR, MAEA, MAML3, MAN2B2, MANBA, MED28, MEPE, MMRN1, MND1, MTTP, MXD4, MYL5, N4BP2, NAAA, NAF1, NCAPG, NDNF, NDST3, NDST4, NEIL3, NEK1, NEUROG2, NFKB1, NFXL1, NKX1-1, NKX3-2, NOA1, NPNT, NPY5R, NR3C2, NSUN7, NUDT6, NUP54, ODAM, OTOP1, PABPC4L, PALLD, PAPSS1, PARM1, PCDH10, PCDH18, PCGF3, PDE5A, PDE6B, PDGFRA, PDLIM3, PDLIM5, PDS5A, PHOX2B, PI4K2B, PIGG, PKD2, PLK4, PLRG1, POLN, POLR2B, POU4F2, PPA2, PPARGC1A, PPAT, PPEF2, PPP2R2C, PPP3CA, PRDM5, PRDM8, PRIMPOL, PRKG2, PRMT10, PROM1, PRSS12, PRSS48, PSAPL1, PTPN13, PTTG2, QDPR, QRFPR, RAPGEF2, RBM46, RBM47, RBPJ, RFC1, RGS12, RNF175, RNF212, RP11-171N4.2, RP11-455G16.1, RP11-503N18.3, RP11-62N21.1, RP11-763F8.1, RP11-766F14.2, RPL9, RWDD4, RXFP1, S100P, SCD5, SCFD2, SCLT1, SCOC, SDAD1, SEC24B, SEC24D, SEC31A, SEL1L3, SETD7, SFRP2, SH3BP2, SH3TC1, SHROOM3, SLBP, SLC26A1, SLC2A9, SLC30A9, SLC34A2, SLC39A8, SLC4A4, SLC7A11, SLC9B1, SLIT2, SMARCA5, SMARCAD1, SMR3A, SOD3, SORCS2, SOWAHB, SPARCL1, SPATA4, SPOCK3, SPON2, SPP1, STAP1, STIM2, STOX2, STPG2, STX18, SULT1B1, SYNPO2, TACC3, TAPT1, TBC1D1, TBC1D19, TBC1D9, TBCK, TDO2, TEC, TECRL, TENM3, TET2, THAP6, THAP9, TIFA, TIGD2, TIGD4, TLL1, TLR1, TLR10, TLR3, TLR6, TMEM128, TMEM129, TMEM150C, TMEM155, TMEM156, TMEM165, TMEM175, TMEM192, TMPRSS11A, TMPRSS11B, TMPRSS11BNL, TMPRSS11E, TMPRSS11F, TNIP2, TRAPPC11, TRIM2, TRIML1, TRIML2, TRMT44, TRPC3, TTC29, TXK, UBA6, UCHL1, UCP1, UFSP2, UGDH, UGT2A1, UGT2A3, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UGT8, UNC5C, USO1, USP38, USP53, UVSSA, WDFY3, WDR1, WDR17, WDR19, WFS1, WHSC1, WWC2, YTHDC1, ZAR1, ZBTB49, ZFP42, ZFYVE28, ZNF518B, ZNF721,

Genes at Omim

ADAMTS3, ADH1B, ADH1C, AFP, AGA, ALB, AMBN, AMTN, ANK2, ANTXR2, BBS12, CC2D2A, CFI, COL25A1, COQ2, CORIN, CYP4V2, DMP1, DOK7, DRD5, DSPP, EDNRA, EGF, ENAM, ETFDH, EVC, EVC2, F11, FAT4, FGB, FGF5, FGFR3, FRAS1, GAB1, GABRA2, GABRB1, GLRB, GRID2, GRXCR1, GUCY1A3, GUF1, GYPB, HMX1, HTT, IDUA, IL21, INTU, KDR, KIAA1109, KIT, KLKB1, LIAS, LRBA, LRIT3, MANBA, MTTP, NEK1, NFKB1, NKX3-2, NR3C2, PALLD, PDE6B, PDGFRA, PHOX2B, PIGG, PKD2, PLK4, PPA2, PPP3CA, PRDM5, PRDM8, PROM1, PRSS12, QDPR, RAPGEF2, RBPJ, RNF212, SEC24D, SH3BP2, SLC26A1, SLC2A9, SLC30A9, SLC34A2, SLC39A8, SLC4A4, SMARCAD1, SOD3, TAPT1, TBCK, TDO2, TEC, TECRL, TENM3, TET2, TLL1, TLR1, TLR3, TMEM165, TRAPPC11, TRIM2, TRPC3, UCHL1, UCP1, UFSP2, UGT2B17, UVSSA, WDFY3, WDR19, WFS1,
ADAMTS3 ?Hennekam lymphangiectasia-lymphedema syndrome 3, 618154 (3)
ADH1B {Aerodigestive tract cancer, squamous cell, alcohol-related, protection against}, 103780 (3)
{Alcohol dependence, protection against}, 103780 (3)
ADH1C {Parkinson disease, susceptibility to}, 168600 (3)
{Alcohol dependence, protection against}, 103780 (3)
AFP Alpha-fetoprotein deficiency, 615969 (3)
[Hereditary persistence of alpha-fetoprotein], 615970 (3)
AGA Aspartylglucosaminuria, 208400 (3)
ALB Analbuminemia, 616000 (3)
[Dysalbuminemic hyperthyroxinemia], 615999 (3)
AMBN Amelogenesis imperfecta, type IF, 616270 (3)
AMTN ?Amelogenesis imperfecta, type IIIB, 617607 (3)
ANK2 Cardiac arrhythmia, ankyrin-B-related, 600919 (3)
Long QT syndrome 4, 600919 (3)
ANTXR2 Hyaline fibromatosis syndrome, 228600 (3)
BBS12 Bardet-Biedl syndrome 12, 615989 (3)
CC2D2A COACH syndrome, 216360 (3)
Joubert syndrome 9, 612285 (3)
Meckel syndrome 6, 612284 (3)
CFI {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923 (3)
{Macular degeneration, age-related, 13, susceptibility to}, 615439 (3)
Complement factor I deficiency, 610984 (3)
COL25A1 Fibrosis of extraocular muscles, congenital, 5, 616219 (3)
COQ2 Coenzyme Q10 deficiency, primary, 1, 607426 (3)
{Multiple system atrophy, susceptibility to}, 146500 (3)
CORIN Preeclampsia/eclampsia 5, 614595 (3)
CYP4V2 Bietti crystalline corneoretinal dystrophy, 210370 (3)
DMP1 Hypophosphatemic rickets, AR, 241520 (3)
DOK7 ?Fetal akinesia deformation sequence, 208150 (3)
Myasthenic syndrome, congenital, 10, 254300 (3)
DRD5 {Attention deficit-hyperactivity disorder, susceptibility to}, 143465 (3)
{Blepharospasm, primary benign}, 606798 (3)
DSPP Deafness, autosomal dominant 39, with dentinogenesis, 605594 (3)
Dentin dysplasia, type II, 125420 (3)
Dentinogenesis imperfecta, Shields type II, 125490 (3)
Dentinogenesis imperfecta, Shields type III, 125500 (3)
EDNRA {Migraine, resistance to}, 157300 (3)
Mandibulofacial dysostosis with alopecia, 616367 (3)
EGF Hypomagnesemia 4, renal, 611718 (3)
ENAM Amelogenesis imperfecta, type IB, 104500 (3)
Amelogenesis imperfecta, type IC, 204650 (3)
ETFDH Glutaric acidemia IIC, 231680 (3)
EVC Ellis-van Creveld syndrome, 225500 (3)
?Weyers acrofacial dysostosis, 193530 (3)
EVC2 Ellis-van Creveld syndrome, 225500 (3)
Weyers acrofacial dysostosis, 193530 (3)
F11 Factor XI deficiency, autosomal dominant, 612416 (3)
Factor XI deficiency, autosomal recessive, 612416 (3)
FAT4 Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)
Van Maldergem syndrome 2, 615546 (3)
FGB Afibrinogenemia, congenital, 202400 (3)
Hypofibrinogenemia, congenital, 202400 (3)
Dysfibrinogenemia, congenital, 616004 (3)
FGF5 Trichomegaly, 190330 (3)
FGFR3 Bladder cancer, somatic, 109800 (3)
CATSHL syndrome, 610474 (3)
Cervical cancer, somatic, 603956 (3)
Hypochondroplasia, 146000 (3)
Achondroplasia, 100800 (3)
Colorectal cancer, somatic, 114500 (3)
Crouzon syndrome with acanthosis nigricans, 612247 (3)
LADD syndrome, 149730 (3)
Muenke syndrome, 602849 (3)
Nevus, epidermal, somatic, 162900 (3)
SADDAN, 616482 (3)
Spermatocytic seminoma, somatic, 273300 (3)
Thanatophoric dysplasia, type I, 187600 (3)
Thanatophoric dysplasia, type II, 187601 (3)
FRAS1 Fraser syndrome 1, 219000 (3)
GAB1 ?Deafness, autosomal recessive 26, 605428 (3)
GABRA2 {Alcohol dependence, susceptibility to}, 103780 (3)
GABRB1 Epileptic encephalopathy, early infantile, 45, 617153 (3)
GLRB Hyperekplexia 2, 614619 (3)
GRID2 Spinocerebellar ataxia, autosomal recessive 18, 616204 (3)
GRXCR1 Deafness, autosomal recessive 25, 613285 (3)
GUCY1A3 Moyamoya 6 with achalasia, 615750 (3)
GUF1 ?Epileptic encephalopathy, early infantile, 40, 617065 (3)
GYPB {Malaria, resistance to}, 611162 (3)
[Blood group, Ss], 111740 (3)
HMX1 Oculoauricular syndrome, 612109 (3)
HTT Huntington disease, 143100 (3)
Lopes-Maciel-Rodan syndrome, 617435 (3)
IDUA Mucopolysaccharidosis Ih, 607014 (3)
Mucopolysaccharidosis Ih/s, 607015 (3)
Mucopolysaccharidosis Is, 607016 (3)
IL21 ?Immunodeficiency, common variable, 11, 615767 (3)
INTU ?Orofaciodigital syndrome XVII, 617926 (3)
?Short-rib thoracic dysplasia 20 with polydactyly, 617925 (3)
KDR {Hemangioma, capillary infantile, susceptibility to}, 602089 (3)
Hemangioma, capillary infantile, somatic, 602089 (3)
KIAA1109 Alkuraya-Kucinskas syndrome, 617822 (3)
KIT Gastrointestinal stromal tumor, familial, 606764 (3)
Germ cell tumors, somatic, 273300 (3)
Leukemia, acute myeloid, 601626 (3)
Mastocytosis, cutaneous, 154800 (3)
Mastocytosis, systemic, somatic, 154800 (3)
Piebaldism, 172800 (3)
KLKB1 Fletcher factor (prekallikrein) deficiency, 612423 (3)
LIAS Hyperglycinemia, lactic acidosis, and seizures, 614462 (3)
LRBA Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3)
LRIT3 Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 (3)
MANBA Mannosidosis, beta, 248510 (3)
MTTP Abetalipoproteinemia, 200100 (3)
{Metabolic syndrome, protection against}, 605552 (3)
NEK1 Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3)
{Amyotrophic lateral sclerosis, susceptibility to, 24}, 617892 (3)
NFKB1 Immunodeficiency, common variable, 12, 616576 (3)
NKX3-2 Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3)
NR3C2 Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3)
Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3)
PALLD {Pancreatic cancer, susceptibility to, 1}, 606856 (3)
PDE6B Night blindness, congenital stationary, autosomal dominant 2, 163500 (3)
Retinitis pigmentosa-40, 613801 (3)
PDGFRA Gastrointestinal stromal tumor, somatic, 606764 (3)
Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3)
PHOX2B Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 (3)
{Neuroblastoma, susceptibility to, 2}, 613013 (3)
Neuroblastoma with Hirschsprung disease, 613013 (3)
PIGG Mental retardation, autosomal recessive 53, 616917 (3)
PKD2 Polycystic kidney disease 2, 613095 (3)
PLK4 Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 (3)
PPA2 ?Sudden cardiac failure, alcohol-induced, 617223 (3)
Sudden cardiac failure, infantile, 617222 (3)
PPP3CA Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, 618265 (3)
Epileptic encephalopathy, infantile or early childhood, 1, 617711 (3)
PRDM5 Brittle cornea syndrome 2, 614170 (3)
PRDM8 ?Epilepsy, progressive myoclonic, 10, 616640 (3)
PROM1 Cone-rod dystrophy 12, 612657 (3)
Macular dystrophy, retinal, 2, 608051 (3)
Retinitis pigmentosa 41, 612095 (3)
Stargardt disease 4, 603786 (3)
PRSS12 Mental retardation, autosomal recessive 1, 249500 (3)
QDPR Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)
RAPGEF2 ?Epilepsy, familial adult myoclonic, 7, 618075 (3)
RBPJ Adams-Oliver syndrome 3, 614814 (3)
RNF212 Recombination rate QTL 1, 612042 (3)
SEC24D Cole-Carpenter syndrome 2, 616294 (3)
SH3BP2 Cherubism, 118400 (3)
SLC26A1 ?Nephrolithiasis, calcium oxalate, 167030 (3)
SLC2A9 Hypouricemia, renal, 2, 612076 (3)
{Uric acid concentration, serum, QTL 2}, 612076 (3)
SLC30A9 ?Birk-Landau-Perez syndrome, 617595 (3)
SLC34A2 Pulmonary alveolar microlithiasis, 265100 (3)
SLC39A8 Congenital disorder of glycosylation, type IIn, 616721 (3)
SLC4A4 Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
SMARCAD1 Adermatoglyphia, 136000 (3)
Basan syndrome, 129200 (3)
Huriez syndrome, 181600 (3)
SOD3 [Superoxide dismutase, elevated extracellular] (3)
TAPT1 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, 616897 (3)
TBCK Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3)
TDO2 [?Hypertryptophanemia], 600627 (3)
TEC Transient erythroblastopenia of childhood (2)
TECRL Ventricular tachycardia, catecholaminergic polymorphic, 3, 614021 (3)
TENM3 Microphthalmia, isolated, with coloboma 9, 615145 (3)
TET2 Myelodysplastic syndrome, somatic, 614286 (3)
TLL1 Atrial septal defect 6, 613087 (3)
TLR1 {Leprosy, protection against}, 613223 (3)
{Leprosy, susceptibility to, 5}, 613223 (3)
TLR3 {HIV1 infection, resistance to}, 609423 (3)
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 (3)
TMEM165 Congenital disorder of glycosylation, type IIk, 614727 (3)
TRAPPC11 Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356 (3)
TRIM2 Charcot-Marie-Tooth disease, type 2R, 615490 (3)
TRPC3 ?Spinocerebellar ataxia 41, 616410 (3)
UCHL1 Spastic paraplegia 79, autosomal recessive, 615491 (3)
{?Parkinson disease 5, susceptibility to}, 613643 (3)
UCP1 {Obesity, susceptibility to}, 601665 (3)
UFSP2 ?Hip dysplasia, Beukes type, 142669 (3)
?Spondyloepimetaphyseal dysplasia, Di Rocco type, 617974 (3)
UGT2B17 {Bone mineral density QTL 12, osteoporosis}, 612560 (3)
UVSSA UV-sensitive syndrome 3, 614640 (3)
WDFY3 ?Microcephaly 18, primary, autosomal dominant, 617520 (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)
WFS1 Deafness, autosomal dominant 6/14/38, 600965 (3)
?Cataract 41, 116400 (3)
Wolfram syndrome 1, 222300 (3)
Wolfram-like syndrome, autosomal dominant, 614296 (3)
{Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3)

Genes at Clinical Genomics Database

AFP, AGA, ALB, AMBN, ANK2, ANTXR2, BBS12, CC2D2A, CFI, COL25A1, COQ2, CORIN, CYP4V2, DMP1, DOK7, DSPP, EDNRA, EGF, ENAM, ETFDH, EVC, EVC2, F11, FAT4, FGB, FGF5, FGFR3, FRAS1, GLRB, GRID2, GRXCR1, GUCY1A3, GYPB, HADH, HMX1, HTT, IDUA, IL21, KIT, KLKB1, LIAS, LRBA, LRIT3, MANBA, MTTP, NEK1, NFKB1, NKX3-2, NR3C2, ODAM, PDE6B, PDGFRA, PHOX2B, PIGG, PKD2, PLK4, PRDM5, PRDM8, PRIMPOL, PROM1, PRSS12, QDPR, RBPJ, SH3BP2, SLC2A9, SLC34A2, SLC39A8, SLC4A4, SMARCAD1, TENM3, TLL1, TLR3, TMEM165, TRAPPC11, TRIM2, TRPC3, UCHL1, UFSP2, UVSSA, WDR19, WFS1,
AFP AFP deficiency, congenital
Hereditary persistence of AFP
AGA Aspartylglucosaminuria
ALB Dysalbuminemic hyperthyroxinemia
Analbuminemia
AMBN Amelogenesis imperfecta type IF
ANK2 Long QT syndrome, 4
Cardiac arrhythmia, ankyrin-B-related
ANTXR2 Hyalinosis, infantile systemic
Fibromatosis, juveline hyaline
BBS12 Bardet-Biedl syndrome 12
CC2D2A Joubert syndrome 9
Meckel syndrome 6
COACH syndrome
CFI Hemolytic uremic syndrome, atypical
Complement factor I deficiency
COL25A1 Fibrosis of extraocular muscles, congenital 5
COQ2 Coenzyme Q10 deficiency 1
CORIN Preeclampsia/eclampsia 5
CYP4V2 Bietti crystalline corneoretinal dystrophy
Retinitis pigmentosa, autosomal recessive
DMP1 Hypophosphatemic rickets, autosomal recessive 1
DOK7 Myasthenic syndrome, congenital 10
DSPP Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1
Dentinogenesis imperfecta, Shields type II
Dentinogenesis imperfecta, Shields type III
Dentin dysplasia, type II
EDNRA Mandibulofacial dysostosis with alopecia
EGF Hypomagnesemia 4, renal
ENAM Amelogenesis imperfecta, type IB
Amelogenesis imperfecta, type IC
ETFDH Multiple acyl-CoA dehydrogenase deficiency
Glutaric aciduria II
EVC Ellis-van Creveld syndrome
Weyers acrofacial dysostosis
EVC2 Ellis-van Creveld syndrome
Weyers acrodental dysostosis
F11 Factor XI deficiency
FAT4 Hennekam lymphangiectasia-lymphedema syndrome 2
FGB Afibrinogenemia, congenital
Dysfibrinogenemia, congenital
Hypodysfibrinogenemia, congenital
FGF5 Trichomegaly
FGFR3 Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
Crouzon syndrome with acanthosis nigricans
Lacrimoauriculodentodigital syndrome (AD)
Muenke syndrome
FRAS1 Fraser syndrome
GLRB Hyperekplexia 2
GRID2 Spinocerebellar ataxia, autosomal recessive 18
GRXCR1 Deafness, autosomal recessive 25
GUCY1A3 Moyamoya disease 6 with achalasia
GYPB Blood group, Ss
HADH 3-hydroxyacyl-CoA dehydrogenase deficiency
Hyperinsulinemic hypoglycemia, familial, 4
HMX1 Oculoauricular syndrome
HTT Huntington disease
IDUA Mucopolysaccharidosis type I
IL21 Immunodeficiency, common variable, 11
KIT Gastrointestinal stromal tumor
KLKB1 Prekallikrein deficiency
LIAS Pyruvate dehydrogensae lipoic acid synthetase deficiency
LRBA Common variable immunodeficiency 8, with autoimmunity
LRIT3 Night blindness, congenital stationary (complete), 1F, autosomal recessive
MANBA Mannosidosis, beta A, lysosomal
MTTP Abetalipoproteinemia
NEK1 Short-rib thoracic dysplasia 6 with or without polydactyly
NFKB1 Immunodeficiency, common variable, 12
NKX3-2 Spondylo-megaepiphyseal-metaphyseal dysplasia
NR3C2 Pseudohypoaldosteronism type I, autosomal dominant
Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy
ODAM Amelogenesis imperfecta, hypomaturation type, IIA4
PDE6B Night blindness, congenital stationary, autosomal dominant 2
Retinitis pigmentosa 40
PDGFRA Gastrointestinal stromal tumor
PHOX2B Central hypoventilation syndrome, congenital
Neuroblastoma with Hirschsprung disease
Neuroblastoma, susceptiblity to, 2
PIGG Mental retardation, autosomal recessive 53
PKD2 Polycystic kidney disease 2
PLK4 Microcephaly and chorioretinopathy, autosomal recessive 2
PRDM5 Brittle cornea syndrome 2
PRDM8 Epilepsy, progressive myoclonic, 10
PRIMPOL Myopia 22, autosomal dominant
PROM1 Cone-rod dystrophy 12
Macular dystrophy, retinal, 2
Stargardt disease 4
Retinitis pigmentosa 41
PRSS12 Mental retardation, autosomal recessive 1
QDPR Hyperphenylalaninemia, BH4-deficient, C
RBPJ Adams-Oliver syndrome 3
SH3BP2 Cherubism
SLC2A9 Hypouricemia, renal, 2
SLC34A2 Pulmonary alveolar microlithiasis
SLC39A8 Congenital disorder of glycosylation, type IIn
SLC4A4 Renal tubular acidosis, proximal, with ocular abnormalities and/or migraine
SMARCAD1 Adermatoglyphia
TENM3 Microphthalmia, isolated, with coloboma 9
TLL1 Atrial septal defect 6
TLR3 Herpes simplex encephalitis, susceptibility to, 2
TMEM165 Congenital disorder of glycosylation, type IIk
TRAPPC11 Limb-girdle muscular dystrophy, type 2S
TRIM2 Charcot-Marie-Tooth disease, axonal, type 2R
TRPC3 Spinocerebellar ataxia 41
UCHL1 Parkinson disease 5, autosomal dominant
Neurodegeneration with optic atropy, childhood-onset
UFSP2 Hip dysplasia, Beukes type
UVSSA UV-sensitive syndrome 3
WDR19 Short-rib thoracic dysplasia 5 with or without polydactyly
Cranioectodermal dysplasia 4
Nephronophthisis 13
Retinitis pigmentosa
Senior-Loken syndrome 8
WFS1 Wolfram syndrome

Genes at HGMD

Summary

Number of Variants: 15080
Number of Genes: 440

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AADAT

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 170999693 387.15 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 44 SYNONYMOUS_CODING LOW None None None None None None None AADAT|0.035304516|67.4%

AASDH

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs3796544
dbSNP Clinvar
57215677 7615.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.27796 0.27800 0.38059 0.49 0.00 None None None None None None AASDH|0.054593955|61.31%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs6554348
dbSNP Clinvar
57219592 6057.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 78 SYNONYMOUS_CODING LOW None 0.64577 0.64580 0.37152 None None None None None None AASDH|0.054593955|61.31%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs6554354
dbSNP Clinvar
57237683 2856.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 36 SYNONYMOUS_CODING LOW None 0.27796 0.27800 0.38044 None None None None None None AASDH|0.054593955|61.31%

ABLIM2

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs2385904
dbSNP Clinvar
8031471 4049.34 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 70 SYNONYMOUS_CODING LOW None 0.73363 0.73360 0.24947 None None None None None None ABLIM2|0.046835245|63.64%

AC021860.1

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs168086
dbSNP Clinvar
38628540 63.58 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.00180 0.78910 0.87 0.00 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs144587926
dbSNP Clinvar
38628562 61.58 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 SYNONYMOUS_CODING LOW None 0.00539 0.00539 None None None None None None None

AC068620.1

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs2176785
dbSNP Clinvar
57276739 2802.34 G C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.38498 0.38500 0.01 0.42 None None None None None None PPAT|0.443666776|18.5%

AC079341.1

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs13108419
dbSNP Clinvar
122687238 14149.93 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 56 SYNONYMOUS_CODING LOW None 0.29333 0.29330 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs4833772
dbSNP Clinvar
122687491 1860.97 G C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.60064 0.60060 0.00 None None None None None None None

AC093323.1

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs61386093
dbSNP Clinvar
6693902 65.9 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 SYNONYMOUS_CODING LOW None 0.25220 0.25220 None None None None None None None

AC093677.1

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs6840665
dbSNP Clinvar
75023609 14244.93 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 58 SYNONYMOUS_CODING LOW None 0.98622 0.98620 None None None None None None MTHFD2L|0.173905555|39.79%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs2289443
dbSNP Clinvar
75023709 13774.93 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.69429 0.69430 0.00 None None None None None None MTHFD2L|0.173905555|39.79%

AC097381.1

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs7695170
dbSNP Clinvar
7940903 15572.34 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 148 NON_SYNONYMOUS_CODING MODERATE None 0.34944 0.34940 1.00 0.00 None None None None None None AFAP1|0.028735408|70.06%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs7669645
dbSNP Clinvar
7940915 15802.34 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 156 NON_SYNONYMOUS_CODING MODERATE None 0.32049 0.32050 0.00 0.86 None None None None None None AFAP1|0.028735408|70.06%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs60272249
dbSNP Clinvar
7941318 1555.34 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 22 SYNONYMOUS_CODING LOW None 0.34645 0.34640 None None None None None None AFAP1|0.028735408|70.06%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs58349148
dbSNP Clinvar
7941346 1497.34 G C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.34585 0.34580 0.89 0.00 None None None None None None AFAP1|0.028735408|70.06%

ACOX3

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs2280571
dbSNP Clinvar
8375342 5184.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 84 SYNONYMOUS_CODING LOW None 0.14157 0.14160 0.14586 None None None None None None ACOX3|0.00758026|82.99%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 8376805 114.15 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 50 SYNONYMOUS_CODING LOW None None None None None None None ACOX3|0.00758026|82.99%

ACSL1

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs34107464
dbSNP Clinvar
185686065 2391.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 34 SYNONYMOUS_CODING LOW None 0.00998 0.00998 0.01484 None None None None None None ACSL1|0.105455707|50.16%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs2292898
dbSNP Clinvar
185686032 5505.93 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 50 SYNONYMOUS_CODING LOW None 0.83147 0.83150 0.25442 None None None None None None ACSL1|0.105455707|50.16%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs11727009
dbSNP Clinvar
185687863 4279.93 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 14 SYNONYMOUS_CODING LOW None 0.21486 0.21490 0.23089 None None None None None None ACSL1|0.105455707|50.16%

ADAMTS3

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs140806973
dbSNP Clinvar
73186526 3009.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.00015 0.00 0.91 None None None None None None ADAMTS3|0.36423469|23.14%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs788908
dbSNP Clinvar
73414286 13964.93 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.64297 0.64300 0.31570 0.49 0.00 None None None None None None ADAMTS3|0.36423469|23.14%

ADH1B

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs1229984
dbSNP Clinvar
100239319 10085.93 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.84145 0.84150 0.03652 0.65 0.00 None None None None None None ADH1B|0.074839204|56.32%

ADH1C

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs283413
dbSNP Clinvar
100268190 3437.93 A C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 12 STOP_LOST HIGH None 0.99281 0.99280 0.00839 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs2241894
dbSNP Clinvar
100266133 5634.34 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 36 SYNONYMOUS_CODING LOW None 0.47165 0.47160 0.30109 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 100268297 920.34 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.90to100.00 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.02 None None None None None None None

ADH4

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs1126671
dbSNP Clinvar
100048414 10891.93 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.84705 0.84700 0.26911 0.69 0.00 None None None None None None ADH4|0.01057839|80.46%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs1126673
dbSNP Clinvar
100045616 7427.93 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 42 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.84724 0.84720 0.26992 1.00 0.00 None None None None None None ADH4|0.01057839|80.46%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs2032349
dbSNP Clinvar
100062819 7586.93 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 28 SYNONYMOUS_CODING LOW None 0.96406 0.96410 0.04121 None None None None None None ADH4|0.01057839|80.46%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs1126670
dbSNP Clinvar
100052733 10634.93 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 40 SYNONYMOUS_CODING LOW None 0.84724 0.84720 0.26872 None None None None None None ADH4|0.01057839|80.46%

ADH5

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 100003237 1162.34 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 6 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.05 None None None None None None ADH5|0.213170432|35.21%

ADH6

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 100126186 1968.34 A T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 26 SYNONYMOUS_CODING LOW None None None None None None None ADH6|0.003690924|87.44%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs4699735
dbSNP Clinvar
100140306 5598.93 A T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 16 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00031 1.00 0.00 None None None None None None ADH6|0.003690924|87.44%

AFAP1

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 7870392 3345.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.05 1.00 None None None None None None AFAP1|0.028735408|70.06%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs771300727
dbSNP Clinvar
7802269 187.15 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.90to100.00 0/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.98 None None None None None None AFAP1|0.028735408|70.06%

AFM

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 74361099 97.15 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 56 SYNONYMOUS_CODING LOW None None None None None None None AFM|0.006233548|84.36%

AFP

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs41265657
dbSNP Clinvar
74310768 4771.34 C G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.01458 0.01458 0.01638 0.06 0.92 None None None None None None AFP|0.580248443|12.58%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs4235117
dbSNP Clinvar
74318330 8818.93 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 40 SYNONYMOUS_CODING LOW None 0.97704 0.97700 0.02007 None None None None None None AFP|0.580248443|12.58%

AGA

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 178355564 4121.34 C G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None AGA|0.096232451|51.89%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs2228119
dbSNP Clinvar
178359960 1948.99 G C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.92093 0.92090 0.07474 0.45 0.00 None None None None None None AGA|0.096232451|51.89%

ALB

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 74279188 6684.34 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 70 SYNONYMOUS_CODING LOW None None None None None None None ALB|0.999994036|0.04%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs962004
dbSNP Clinvar
74285239 1113.34 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 12 SYNONYMOUS_CODING LOW None 0.48343 0.48340 0.48170 None None None None None None ALB|0.999994036|0.04%

ALPK1

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs231247
dbSNP Clinvar
113359703 4581.34 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 40 SYNONYMOUS_CODING LOW None 0.66134 0.66130 0.32001 None None None None None None ALPK1|0.013394495|78.25%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs2074379
dbSNP Clinvar
113352899 5984.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.62680 0.62680 0.34623 0.34 0.00 None None None None None None ALPK1|0.013394495|78.25%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs13148353
dbSNP Clinvar
113352628 9667.34 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.65855 0.65850 0.31978 0.27 0.00 None None None None None None ALPK1|0.013394495|78.25%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs2074388
dbSNP Clinvar
113352397 10769.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.62740 0.62740 0.34615 0.25 0.04 None None None None None None ALPK1|0.013394495|78.25%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs11726117
dbSNP Clinvar
113353285 6708.34 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.65855 0.65850 0.31931 0.44 0.00 None None None None None None ALPK1|0.013394495|78.25%

AMBN

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs7680880
dbSNP Clinvar
71472426 4827.34 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 94 SYNONYMOUS_CODING LOW None 0.27576 0.27580 0.23460 None None None None None None AMBN|0.073571485|56.63%

AMTN

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs35286445
dbSNP Clinvar
71384537 4686.34 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.11402 0.11400 0.10280 0.01 0.41 None None None None None None AMTN|0.018262621|75.13%

ANK2

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs3112980
dbSNP Clinvar
114067139 3920.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 50 None None None 0.08626 0.08626 0.18 0.07 None None None None None None ANK2|0.34993042|24.11%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 114213599 187.15 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.90to100.00 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.88 None None None None None None ANK2|0.34993042|24.11%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 114199064 1613.34 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 26 SYNONYMOUS_CODING LOW None None None None None None None ANK2|0.34993042|24.11%

ANKRD17

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs6822576
dbSNP Clinvar
73991006 11559.93 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 80 SYNONYMOUS_CODING LOW None 0.99740 0.99740 0.00369 None None None None None None ANKRD17|0.584903468|12.36%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs35591466
dbSNP Clinvar
74017201 3870.34 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 48 SYNONYMOUS_CODING LOW None 0.00399 0.00399 0.01076 None None None None None None ANKRD17|0.584903468|12.36%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs6855349
dbSNP Clinvar
73956736 5689.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 80 SYNONYMOUS_CODING LOW None 0.35184 0.35180 0.36921 None None None None None None ANKRD17|0.584903468|12.36%

ANKRD37

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 186318094 3427.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.12 0.11 None None None None None None ANKRD37|0.021366027|73.5%

ANKRD50

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs10018651
dbSNP Clinvar
125592065 6583.34 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 54 SYNONYMOUS_CODING LOW None 0.28674 0.28670 0.25896 None None None None None None ANKRD50|0.112901516|48.67%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs3733471
dbSNP Clinvar
125591687 9505.34 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 82 SYNONYMOUS_CODING LOW None 0.28734 0.28730 0.25942 None None None None None None ANKRD50|0.112901516|48.67%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs6820002
dbSNP Clinvar
125631199 2533.34 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 36 SYNONYMOUS_CODING LOW None 0.00459 0.00459 0.01476 None None None None None None ANKRD50|0.112901516|48.67%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs3733472
dbSNP Clinvar
125592440 9211.34 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 62 SYNONYMOUS_CODING LOW None 0.04273 0.04273 0.05482 None None None None None None ANKRD50|0.112901516|48.67%

ANTXR2

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs12647691
dbSNP Clinvar
80905990 1461.34 C G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.80272 0.80270 0.28982 1.00 0.00 None None None None None None ANTXR2|0.866348045|4.33%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs61744630
dbSNP Clinvar
80945815 302.4 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 8 None None None 0.07788 0.07788 0.00 0.58 None None None None None None ANTXR2|0.866348045|4.33%

ANXA10

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 169105773 132.15 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.90to100.00 0/1 44 SYNONYMOUS_CODING LOW None None None None None None None ANXA10|0.100130698|51.14%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs114905136
dbSNP Clinvar
169083757 2742.34 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 22 SYNONYMOUS_CODING LOW None 0.00419 0.00419 0.01238 None None None None None None ANXA10|0.100130698|51.14%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs4405979
dbSNP Clinvar
169086441 8033.93 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 50 SYNONYMOUS_CODING LOW None 0.53295 0.53290 0.37204 None None None None None None ANXA10|0.100130698|51.14%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs6836994
dbSNP Clinvar
169083694 4750.93 A C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.53315 0.53310 0.37214 1.00 0.00 None None None None None None ANXA10|0.100130698|51.14%

AP001816.1

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 102269815 184.15 G T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.61 None None None None None None None

APBB2

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs4861358
dbSNP Clinvar
41015899 8210.34 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.67412 0.67410 0.34970 0.65 0.00 None None None None None None APBB2|0.401070014|20.7%

ARAP2

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs7657166
dbSNP Clinvar
36069805 5479.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 68 SYNONYMOUS_CODING LOW None 0.15535 0.15540 0.23674 None None None None None None ARAP2|0.117132933|47.92%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs4833069
dbSNP Clinvar
36081878 12974.93 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.99521 0.99520 0.00746 0.80 0.00 None None None None None None ARAP2|0.117132933|47.92%

ARHGAP10

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs140550063
dbSNP Clinvar
148834277 1850.34 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 68 SYNONYMOUS_CODING LOW None 0.00579 0.00579 0.00492 None None None None None None ARHGAP10|0.210937022|35.45%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs35975487
dbSNP Clinvar
148944467 3724.34 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 24 SYNONYMOUS_CODING LOW None 0.11901 0.11900 0.05205 None None None None None None ARHGAP10|0.210937022|35.45%

ARHGAP24

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 86916250 9341.34 G T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 116 SYNONYMOUS_CODING LOW None None None None None None None ARHGAP24|0.256470392|31.01%

ARHGEF38

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs6533206
dbSNP Clinvar
106474096 8517.93 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 50 SYNONYMOUS_CODING LOW None 0.99980 0.99980 None None None None None None ARHGEF38|0.075305724|56.22%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs13147012
dbSNP Clinvar
106580340 11691.93 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.35603 0.35600 0.86 0.00 None None None None None None ARHGEF38|0.075305724|56.22%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs17036076
dbSNP Clinvar
106575269 1411.34 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 26 SYNONYMOUS_CODING LOW None 0.03055 0.03055 None None None None None None ARHGEF38|0.075305724|56.22%

ARSJ

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 114899708 5974.34 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 40 STOP_GAINED HIGH None None None None None None None ARSJ|0.075227487|56.25%

ASB5

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs6827525
dbSNP Clinvar
177137988 4919.93 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 24 SYNONYMOUS_CODING LOW None 0.51558 0.51560 0.48324 None None None None None None ASB5|0.082309685|54.71%

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs6848883
dbSNP Clinvar
156787340 1252.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 22 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%

ATP10D

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs33995001
dbSNP Clinvar
47514685 19788.93 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.30491 0.30490 0.38967 0.05 0.07 None None None None None None ATP10D|0.06998296|57.49%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs7683838
dbSNP Clinvar
47525054 7598.93 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.09285 0.09285 0.13986 0.48 0.06 None None None None None None ATP10D|0.06998296|57.49%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs34208443
dbSNP Clinvar
47560002 12318.93 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.07728 0.07728 0.14232 0.22 0.10 None None None None None None ATP10D|0.06998296|57.49%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 47565780 78.15 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.90to100.00 0/1 62 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.05 0.07 None None None None None None ATP10D|0.06998296|57.49%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs4145944
dbSNP Clinvar
47593283 15233.93 G C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.37700 0.37700 0.43957 1.00 0.00 None None None None None None ATP10D|0.06998296|57.49%

ATP8A1

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs61735691
dbSNP Clinvar
42457545 6779.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 80 SYNONYMOUS_CODING LOW None 0.14776 0.14780 0.14217 None None None None None None ATP8A1|0.439676223|18.67%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 42596358 503.25 T A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 10 None None None 0.01 0.00 None None None None None None ATP8A1|0.439676223|18.67%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs16854624
dbSNP Clinvar
42629038 3063.34 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 44 SYNONYMOUS_CODING LOW None 0.08267 0.08267 0.10334 None None None None None None ATP8A1|0.439676223|18.67%

BANK1

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 102993522 145.15 G T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.90to100.00 0/1 56 STOP_GAINED HIGH None None None None None None None BANK1|0.027814487|70.51%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs3113676
dbSNP Clinvar
102965043 1110.34 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.99681 0.99680 0.00938 0.40 0.00 None None None None None None BANK1|0.027814487|70.51%

BBS12

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 123663069 84.15 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.90to100.00 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.83 0.00 None None None None None None BBS12|0.010536417|80.48%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs309370
dbSNP Clinvar
123664204 6649.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.50639 0.50640 0.41381 0.35 0.00 None None None None None None BBS12|0.010536417|80.48%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs2292493
dbSNP Clinvar
123664445 9043.34 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 76 SYNONYMOUS_CODING LOW None 0.30052 0.30050 0.10664 None None None None None None BBS12|0.010536417|80.48%

BMP2K

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs138262352
dbSNP Clinvar
79833182 4796.34 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 68 STOP_GAINED HIGH None 0.00060 0.00060 0.00242 None None None None None None BMP2K|0.123580091|46.87%,PAQR3|0.263388599|30.44%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 79832137 62.15 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.90to100.00 0/1 84 SYNONYMOUS_CODING LOW None None None None None None None BMP2K|0.123580091|46.87%,PAQR3|0.263388599|30.44%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 79833032 333.15 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.90to100.00 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.26 0.18 None None None None None None BMP2K|0.123580091|46.87%,PAQR3|0.263388599|30.44%

BMP3

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs6831040
dbSNP Clinvar
81967188 21626.93 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 114 NON_SYNONYMOUS_CODING MODERATE None 0.99880 0.99880 0.00108 0.04 0.15 None None None None None None BMP3|0.245532193|31.98%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 81952459 223.15 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.90to100.00 0/1 96 SYNONYMOUS_CODING LOW None None None None None None None BMP3|0.245532193|31.98%

BOD1L1

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs17745676
dbSNP Clinvar
13604182 14754.34 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 156 NON_SYNONYMOUS_CODING MODERATE None 0.13279 0.13280 0.14993 0.03 None None None None None None BOD1L1|0.019781318|74.3%
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