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+ Genes 419

Genes:
ABCC2, ABLIM1, ACADSB, ACBD5, ADAM12, ADAM8, ADAMTS14, ADARB2, ADD3, ADIRF, ADO, ADRA2A, ADRB1, AFAP1L2, AGAP6, AGAP7, AGAP9, AIFM2, AKR1C1, AKR1C3, AKR1C4, AKR1CL1, AL133481.1, AL138764.1, AL162407.1, AL359195.1, AL359878.1, ALDH18A1, ALOX5, ANK3, ANKRD16, ANKRD2, ANKRD22, ANKRD26, ANKRD30A, ANTXRL, ANXA11, ANXA7, ANXA8L2, ARHGAP19, ARHGAP21, ARHGAP22, ARMC3, ARMC4, ATE1, ATRNL1, AVPI1, BAG3, BEND7, BICC1, BLNK, BMS1, BTBD16, BTRC, C10ORF68, C10orf107, C10orf11, C10orf111, C10orf120, C10orf128, C10orf25, C10orf35, C10orf53, C10orf54, C10orf62, C10orf67, C10orf71, C10orf90, C10orf91, C10orf95, C1QL3, CACNB2, CALHM1, CALHM3, CALML5, CALY, CAMK1D, CAMK2G, CC2D2B, CCAR1, CCDC3, CCDC6, CCDC7, CCNY, CDH23, CELF2, CEP55, CHAT, CHST15, CHUK, CLRN3, CNNM1, COL13A1, COL17A1, COMMD3-BMI1, COX15, CPEB3, CPXM2, CSGALNACT2, CTBP2, CTNNA3, CUBN, CUL2, CYP26C1, CYP2E1, DCLRE1A, DDX50, DHTKD1, DHX32, DIP2C, DKFZP667F0711, DKK1, DLG5, DMBT1, DNA2, DNAJB12, DNAJC1, DNAJC9, DNMBP, DNTT, DOCK1, DPYSL4, DUSP13, DUSP5, DYDC1, DYDC2, EBLN1, ECD, ECHDC3, ECHS1, EDRF1, EGR2, EIF3A, EMX2, ENO4, ERCC6, ERCC6-PGBD3, ERLIN1, EXOC6, FAM149B1, FAM160B1, FAM170B, FAM171A1, FAM175B, FAM178A, FAM196A, FAM208B, FAM21A, FAM21C, FAM24B, FAM35A, FAM45A, FAS, FBXW4, FGFR2, FRA10AC1, FRG2B, FRMPD2, GBF1, GDF10, GFRA1, GPAM, GPR123, GPR158, GPR26, GPRIN2, GRID1, GRK5, GSTO2, GTPBP4, HECTD2, HIF1AN, HK1, HKDC1, HNRNPF, HOGA1, HPS1, HSPA12A, HSPA14, IDI2, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, IL15RA, IL2RA, INA, INPP5A, INPP5F, ITGA8, ITGB1, ITIH2, ITIH5, JAKMIP3, JMJD1C, KAZALD1, KCNMA1, KIAA1217, KIAA1279, KIAA1462, KIF20B, KNDC1, LDB3, LGI1, LHPP, LIPA, LIPF, LIPJ, LIPM, LIPN, LOXL4, LRIT1, LRRC18, LRRC27, LYZL1, LYZL2, LZTS2, MALRD1, MAP3K8, MARCH8, MASTL, MAT1A, MBL2, MCM10, MCMBP, MEIG1, MGMT, MKI67, MKX, MMP21, MMRN2, MMS19, MORN4, MPP7, MRC1, MRC1L1, MRPL43, MSRB2, MTG1, MTPAP, MYO3A, MYOF, MYOZ1, MYPN, NAMPTL, NCOA4, NET1, NEURL1, NEUROG3, NFKB2, NHLRC2, NKX2-3, NKX6-2, NPFFR1, NPS, NPY4R, NRAP, NRG3, NRP1, NSUN6, NUDT5, NUTM2E, OBFC1, OGDHL, OPN4, OPTN, OR13A1, PALD1, PANK1, PAOX, PARD3, PAX2, PBLD, PCDH15, PCGF6, PDCD11, PDCD4, PDE6C, PDLIM1, PDZD7, PDZD8, PFKP, PHYH, PHYHIPL, PI4K2A, PIK3AP1, PIP4K2A, PITRM1, PITX3, PKD2L1, PLAC9, PLAU, PLCE1, PLEKHA1, PLEKHS1, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, PPAPDC1A, PPP2R2D, PRAP1, PRDX3, PRKCQ, PRKG1, PRLHR, PSTK, PTCHD3, PTER, PTF1A, PTPLA, PTPRE, PWWP2B, PYROXD2, R3HCC1L, RAB11FIP2, RASGEF1A, RBM20, RBP3, RET, RGR, RGS10, RNLS, RPP38, RRP12, RSU1, RTKN2, RUFY2, SCD, SEC61A2, SEMA4G, SEPHS1, SFMBT2, SFRP5, SFTPA1, SFTPA2, SFTPD, SFXN4, SGMS1, SGPL1, SH2D4B, SH3PXD2A, SKIDA1, SLC18A3, SLC29A3, SLC39A12, SLIT1, SLK, SMC3, SNCG, SORBS1, SORCS1, SORCS3, SPAG6, SPRN, SRGN, STAMBPL1, STK32C, STOX1, SUFU, SUPV3L1, SVIL, SYT15, TACC2, TACR2, TAF3, TBATA, TBC1D12, TCERG1L, TECTB, TET1, THNSL1, TIMM23, TIMM23B, TLX1NB, TMEM254, TMEM26, TMEM72, TNKS2, TRDMT1, TRUB1, TTC18, TTC40, TUBAL3, TUBB8, TUBGCP2, TYSND1, UCMA, UCN3, USP54, VENTX, VPS26A, VSTM4, VWA2, WAPAL, WBP1L, WDFY4, WDR11, WDR37, WDR96, YME1L1, ZDHHC6, ZEB1, ZFAND4, ZFYVE27, ZMYND11, ZNF239, ZNF33B, ZNF365, ZNF438, ZNF485, ZNF487, ZNF488, ZNF511, ZSWIM8, ZWINT,

+ Genes associated with diseases 88

Genes at Omim

ABCC2, ACADSB, ADD3, ADRB1, AKR1C4, ALDH18A1, ALOX5, ANK3, ANKRD26, ANXA11, ARMC4, BAG3, BICC1, BLNK, BMS1, CACNB2, CDH23, CEP55, CHAT, CHUK, COL13A1, COL17A1, COX15, CTNNA3, CUBN, CYP26C1, DHTKD1, DNA2, ECHS1, EGR2, EMX2, ERCC6, ERLIN1, FAS, FGFR2, HK1, HOGA1, HPS1, IL2RA, ITGA8, KCNMA1, KIAA1279, LDB3, LGI1, LIPA, LIPN, MAP3K8, MAT1A, MBL2, MMP21, MTPAP, MYO3A, MYPN, NEUROG3, NFKB2, NHLRC2, NKX6-2, OPTN, PAX2, PCDH15, PDE6C, PDZD7, PHYH, PITX3, PLAU, PLCE1, PNLIP, PRKG1, PTF1A, RBM20, RBP3, RET, RGR, SFTPA2, SFXN4, SGPL1, SLC18A3, SLC29A3, SMC3, STOX1, SUFU, TUBB8, WDR11, YME1L1, ZEB1, ZFYVE27, ZMYND11, ZNF365,
ABCC2 Dubin-Johnson syndrome, 237500 (3)
ACADSB 2-methylbutyrylglycinuria, 610006 (3)
ADD3 Cerebral palsy, spastic quadriplegic, 3, 617008 (3)
ADRB1 [Resting heart rate], 607276 (3)
{Congestive heart failure and beta-blocker response, modifier of} (3)
AKR1C4 {46XY sex reversal 8, modifier of}, 614279 (3)
ALDH18A1 Cutis laxa, autosomal dominant 3, 616603 (3)
Cutis laxa, autosomal recessive, type IIIA, 219150 (3)
Spastic paraplegia 9A, autosomal dominant, 601162 (3)
Spastic paraplegia 9B, autosomal recessive, 616586 (3)
ALOX5 {Asthma, diminished response to antileukotriene treatment in}, 600807 (3)
{Atherosclerosis, susceptibility to} (3)
ANK3 ?Mental retardation, autosomal recessive, 37, 615493 (3)
ANKRD26 Thrombocytopenia 2, 188000 (3)
ANXA11 Amytrophic lateral sclerosis 23, 617839 (3)
ARMC4 Ciliary dyskinesia, primary, 23, 615451 (3)
BAG3 Cardiomyopathy, dilated, 1HH, 613881 (3)
Myopathy, myofibrillar, 6, 612954 (3)
BICC1 {Renal dysplasia, cystic, susceptibility to}, 601331 (3)
BLNK ?Agammaglobulinemia 4, 613502 (3)
BMS1 ?Aplasia cutis congenita, nonsyndromic, 107600 (3)
CACNB2 Brugada syndrome 4, 611876 (3)
CDH23 Deafness, autosomal recessive 12, 601386 (3)
{Pituitary adenoma 5, multiple types}, 617540 (3)
Usher syndrome, type 1D, 601067 (3)
Usher syndrome, type 1D/F digenic, 601067 (3)
CEP55 Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500 (3)
CHAT Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
CHUK Cocoon syndrome, 613630 (3)
COL13A1 Myasthenic syndrome, congenital, 19, 616720 (3)
COL17A1 Epidermolysis bullosa, junctional, localisata variant, 226650 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epithelial recurrent erosion dystrophy, 122400 (3)
COX15 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3)
Leigh syndrome due to cytochrome c oxidase deficiency, 256000 (3)
CTNNA3 Arrhythmogenic right ventricular dysplasia, familial, 13, 615616 (3)
CUBN Megaloblastic anemia-1, Finnish type, 261100 (3)
CYP26C1 Focal facial dermal dysplasia 4, 614974 (3)
DHTKD1 2-aminoadipic 2-oxoadipic aciduria, 204750 (3)
?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3)
DNA2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 (3)
?Seckel syndrome 8, 615807 (3)
ECHS1 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)
EGR2 Charcot-Marie-Tooth disease, type 1D, 607678 (3)
Hypomyelinating neuropathy, congenital, 1, 605253 (3)
Dejerine-Sottas disease, 145900 (3)
EMX2 Schizencephaly, 269160 (3)
ERCC6 Cerebrooculofacioskeletal syndrome 1, 214150 (3)
{Lung cancer, susceptibility to}, 211980 (3)
{Macular degeneration, age-related, susceptibility to, 5}, 613761 (3)
Cockayne syndrome, type B, 133540 (3)
De Sanctis-Cacchione syndrome, 278800 (3)
Premature ovarian failure 11, 616946 (3)
UV-sensitive syndrome 1, 600630 (3)
ERLIN1 Spastic paraplegia 62, 615681 (3)
FAS Autoimmune lymphoproliferative syndrome, type IA, 601859 (3)
Squamous cell carcinoma, burn scar-related, somatic (3)
{Autoimmune lymphoproliferative syndrome}, 601859 (3)
FGFR2 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3)
Apert syndrome, 101200 (3)
Gastric cancer, somatic, 613659 (3)
Beare-Stevenson cutis gyrata syndrome, 123790 (3)
Bent bone dysplasia syndrome, 614592 (3)
Craniofacial-skeletal-dermatologic dysplasia, 101600 (3)
Craniosynostosis, nonspecific (3)
Crouzon syndrome, 123500 (3)
Jackson-Weiss syndrome, 123150 (3)
LADD syndrome, 149730 (3)
Pfeiffer syndrome, 101600 (3)
Saethre-Chotzen syndrome, 101400 (3)
Scaphocephaly and Axenfeld-Rieger anomaly (3)
Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3)
HK1 Hemolytic anemia due to hexokinase deficiency, 235700 (3)
Neuropathy, hereditary motor and sensory, Russe type, 605285 (3)
Retinitis pigmentosa 79, 617460 (3)
HOGA1 Hyperoxaluria, primary, type III, 613616 (3)
HPS1 Hermansky-Pudlak syndrome 1, 203300 (3)
IL2RA Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 (3)
{Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942 (3)
ITGA8 Renal hypodysplasia/aplasia 1, 191830 (3)
KCNMA1 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 (3)
?Cerebellar atrophy, developmental delay, and seizures, 617643 (3)
KIAA1279 Goldberg-Shprintzen megacolon syndrome, 609460 (3)
LDB3 Cardiomyopathy, dilated, 1C, with or without LVNC, 601493 (3)
Cardiomyopathy, hypertrophic, 24, 601493 (3)
Left ventricular noncompaction 3, 601493 (3)
Myopathy, myofibrillar, 4, 609452 (3)
LGI1 Epilepsy, familial temporal lobe, 1, 600512 (3)
LIPA Cholesteryl ester storage disease, 278000 (3)
Wolman disease, 278000 (3)
LIPN Ichthyosis, congenital, autosomal recessive 8, 613943 (3)
MAP3K8 Lung cancer, somatic, 211980 (3)
MAT1A Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3)
Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)
MBL2 {Chronic infections, due to MBL deficiency}, 614372 (3)
MMP21 Heterotaxy, visceral, 7, autosomal, 616749 (3)
MTPAP ?Spastic ataxia 4, autosomal recessive, 613672 (3)
MYO3A Deafness, autosomal recessive 30, 607101 (3)
MYPN Cardiomyopathy, dilated, 1KK, 615248 (3)
Cardiomyopathy, familial restrictive, 4, 615248 (3)
Cardiomyopathy, hypertrophic, 22, 615248 (3)
Nemaline myopathy 11, autosomal recessive, 617336 (3)
NEUROG3 Diarrhea 4, malabsorptive, congenital, 610370 (3)
NFKB2 Immunodeficiency, common variable, 10, 615577 (3)
NHLRC2 FINCA syndrome, 618278 (3)
NKX6-2 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3)
OPTN {Glaucoma, normal tension, susceptibility to}, 606657 (3)
Amyotrophic lateral sclerosis 12, 613435 (3)
Glaucoma 1, open angle, E, 137760 (3)
PAX2 Glomerulosclerosis, focal segmental, 7, 616002 (3)
Papillorenal syndrome, 120330 (3)
PCDH15 Deafness, autosomal recessive 23, 609533 (3)
Usher syndrome, type 1D/F digenic, 601067 (3)
Usher syndrome, type 1F, 602083 (3)
PDE6C Cone dystrophy 4, 613093 (3)
PDZD7 Deafness, autosomal recessive 57, 618003 (3)
{Retinal disease in Usher syndrome type IIA, modifier of}, 276901 (3)
Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 (3)
PHYH Refsum disease, 266500 (3)
PITX3 Anterior segment dysgenesis 1, multiple subtypes, 107250 (3)
Cataract 11, multiple types, 610623 (3)
Cataract 11, syndromic, autosomal recessive, 610623 (3)
PLAU Quebec platelet disorder, 601709 (3)
{Alzheimer disease, late-onset, susceptibility to}, 104300 (3)
PLCE1 Nephrotic syndrome, type 3, 610725 (3)
PNLIP ?Pancreatic lipase deficiency, 614338 (3)
PRKG1 Aortic aneurysm, familial thoracic 8, 615436 (3)
PTF1A Pancreatic agenesis 2, 615935 (3)
Pancreatic and cerebellar agenesis, 609069 (3)
RBM20 Cardiomyopathy, dilated, 1DD, 613172 (3)
RBP3 ?Retinitis pigmentosa 66, 615233 (3)
RET {Hirschsprung disease, protection against}, 142623 (3)
{Hirschsprung disease, susceptibility to, 1}, 142623 (3)
Central hypoventilation syndrome, congenital, 209880 (3)
Medullary thyroid carcinoma, 155240 (3)
Multiple endocrine neoplasia IIA, 171400 (3)
Multiple endocrine neoplasia IIB, 162300 (3)
Pheochromocytoma, 171300 (3)
RGR Retinitis pigmentosa 44, 613769 (3)
SFTPA2 Pulmonary fibrosis, idiopathic, 178500 (3)
SFXN4 Combined oxidative phosphorylation deficiency 18, 615578 (3)
SGPL1 Nephrotic syndrome, type 14, 617575 (3)
SLC18A3 Myasthenic syndrome, congenital, 21, presynaptic, 617239 (3)
SLC29A3 Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)
SMC3 Cornelia de Lange syndrome 3, 610759 (3)
STOX1 Preeclampsia/eclampsia 4, 609404 (3)
SUFU Basal cell nevus syndrome, 109400 (3)
{Meningioma, familial, susceptibility to}, 607174 (3)
Joubert syndrome 32, 617757 (3)
Medulloblastoma, desmoplastic, 155255 (3)
TUBB8 Oocyte maturation defect 2, 616780 (3)
WDR11 Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3)
YME1L1 ?Optic atrophy 11, 617302 (3)
ZEB1 Corneal dystrophy, Fuchs endothelial, 6, 613270 (3)
Corneal dystrophy, posterior polymorphous, 3, 609141 (3)
ZFYVE27 Spastic paraplegia 33, autosomal dominant, 610244 (3)
ZMYND11 Mental retardation, autosomal dominant 30, 616083 (3)
ZNF365 {Nephrolithiasis, uric acid, susceptibility to}, 605990 (3)

Genes at Clinical Genomics Database

ABCC2, ACADSB, ADRB1, ALDH18A1, ALOX5, ANKRD26, ARMC4, BAG3, BICC1, BLNK, BMS1, CACNB2, CDH23, CHAT, CHUK, COL13A1, COL17A1, COX15, CTNNA3, CUBN, CYP26C1, DHTKD1, DNA2, ECHS1, EGR2, EMX2, ERCC6, ERLIN1, FAS, FGFR2, HK1, HOGA1, HPS1, IL2RA, ITGA8, KCNMA1, LDB3, LGI1, LIPA, LIPN, MASTL, MAT1A, MBL2, MMP21, MTPAP, MYO3A, MYPN, NEUROG3, NFKB2, OPTN, PAX2, PCDH15, PDE6C, PDZD7, PHYH, PITX3, PLAU, PLCE1, PRKG1, PTF1A, RBM20, RBP3, RET, RGR, SFTPA2, SFXN4, SLC29A3, SMC3, SUFU, TUBB8, WDR11, ZEB1, ZFYVE27, ZMYND11,
ABCC2 Dubin-Johnson syndrome
ACADSB 2-methylbutyryl-CoA dehydrogenase deficiency
ADRB1 Beta-blocker response, association with
ALDH18A1 Cutis laxa, autosomal dominant 3
Spastic paraplegia 9A, autosomal dominant
Cutis laxa, autosomal recessive, type IIIA
Spastic paraplegia 9B, autosomal recessive
ALOX5 Asthma, diminished response to antileukotriene treatment in
ANKRD26 Thrombocytopenia 2
ARMC4 Ciliary dyskinesia, primary, 23
BAG3 Cardiomyopathy, dilated, 1HH
Myopathy, myofibrillar 6
BICC1 Renal dysplasia, cystic, susceptibility to
BLNK Agammaglobulinemia 4
BMS1 Aplasia cutis congenita, nonsyndromic
CACNB2 Brugada syndrome 4
CDH23 Deafness, autosomal recessive 12
Usher syndrome, type 1D
Usher syndrome, type 1D /F digenic
CHAT Myasthenic syndrome, congenital 6, presynaptic
CHUK Cocoon syndrome
COL13A1 Myasthenic syndrome, congenital, 19
COL17A1 Epithelial recurrent erosion dystrophy (ERED)
Epidermolysis bullosa, junctional, non-Herlitz type
COX15 Leigh syndrome
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
CTNNA3 Arrhythmogenic right ventricular dysplasia, familial, 13
CUBN Megaloblastic anemia-1, Finnish type
CYP26C1 Focal facial dermal dysplasia 4
DHTKD1 Charcot-Marie-Tooth disease, type 2Q
2-aminoadipic and 2-oxoadipic aciduria
DNA2 Progressive external ophthalmoplegia with mitochondrial deletions, autosomal dominant, 6
Seckel syndrome 8
ECHS1 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
EGR2 Charcot-Marie-Tooth disease, demyelinating, type 1D
Neuropathy, congenital hypomyelinating, 1
Dejerine-Sottas disease
EMX2 Schizencephaly
ERCC6 Xeroderma Pigmentosum-Cockayne Syndrome
De Sanctis-Cacchione syndrome
Premature ovarian failure 11 (AD)
ERLIN1 Spastic paraplegia 62, autosomal recessive
FAS Autoimmune lymphoproliferative syndrome, type IA
FGFR2 Lacrimoauriculodentodigital syndrome
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Sraniofacial-skeletal-dermatological dysplasia
Crouzon syndrome
Jackson-Weiss syndrome
Pfeiffer syndrome
Apert syndrome
Beare-Stevenson cutis gyrata syndrome
HK1 Hemolytic anemia, nonspherocytic, due to hexokinase deficiency
HOGA1 Hyperoxaluria, primary, type III
HPS1 Hermansky-Pudlak syndrome 1
IL2RA Interleukin 2 receptor, alpha, deficiency of
ITGA8 Renal agenesis, bilateral
KCNMA1 Generalized epilepsy and paroxysmal dyskinesia
LDB3 Cardiomyopathy, dilated 1C, with or without ventricular noncompaction
Myopathy, myofibrillar 4
LGI1 Epilepsy, familial temporal lobe, 1
LIPA Cholesterol ester storage disease
Wolman disease
LIPN Ichthyosis, congenital, autosomal recessive 8
MASTL Thrombocytopenia 2
MAT1A Methionine adenosyltransferase deficiency
MBL2 Mannose-binding protein deficiency
MMP21 Heterotaxy, visceral, 7
MTPAP Spastic ataxia 4, autosomal recessive
MYO3A Deafness, autosomal recessive 30
MYPN Cardiomyopathy, dilated, 1KK
Cardiomyopathy, familial hypertrophic, 22
Cardiomyopathy, familial restrictive, 4
NEUROG3 Diarrhea 4, malabsorptive, congenital
NFKB2 Immunodeficiency, common variable, 10
OPTN Glaucoma, normal tension, susceptibility to
Glaucoma 1, open angle, E
PAX2 Isolated renal hypoplasia
Papillorenal syndrome
PCDH15 Deafness, autosomal recessive 23
Usher syndrome, type 1F
Usher syndrome, type 1D/F, digenic
PDE6C Cone dystrophy 4
PDZD7 Usher syndrome, type IIC
PHYH Refsum disease
PITX3 Cataract, posterior polar, 4
Cataract, congenital
Cataract, posterior polar 4, syndromic
Anterior segment mesenchymal dysgenesis
PLAU Quebec platelet disorder
PLCE1 Nephrotic syndrome, type 3
PRKG1 Aortic aneurysm, familial thoracic 8
PTF1A Pancreatic and cerebellar agenesis
Pancreatic agenesis 2
RBM20 Cardiomyopathy, dilated, 1DD
RBP3 Retinitis pigmentosa 66
RET Central hypoventilation syndrome, congenital
Multiple endocrine neoplasia, type IIA
Multiple endocrine neoplasia IIB
Medullary thyroid carcinoma, familial
Pheochromocytoma
Hirschsprung disease, susceptibility to 1
RGR Retinitis pigmentosa 44
SFTPA2 Pulmonary fibrosis, idiopathic
SFXN4 Combined oxidative phosphorylation deficiency 18
SLC29A3 Histiocytosis-lymphadenopathy plus syndrome
SMC3 Cornelia de Lange syndrome 3
SUFU Medulloblastoma
Basal cell nevus syndrome
TUBB8 Oocyte maturation defect 2
WDR11 Hypogonadotropic hypogonadism
Kallmann syndrome
ZEB1 Corneal dystrophy, Fuchs endothelial 6
Corneal dystrophy, posterior polymorphous, 3
ZFYVE27 Spastic paraplegia 33, autosomal dominant
ZMYND11 Mental retardation, autosomal domianant, 30

Genes at HGMD

Summary

Number of Variants: 10062
Number of Genes: 419

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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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs7906908
dbSNP Clinvar 		105607347 30.74 C T . 1/1 2 None None None 0.86502 0.86500 None None None None None None SH3PXD2A|0.240518285|32.38%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs10900123
dbSNP Clinvar 		45376574 30.74 C T . 1/1 2 None None None 0.46486 0.46490 None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs139284491
dbSNP Clinvar 		42387779 30.77 T G . 0/1 8 None None None None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs4436477
dbSNP Clinvar 		38939503 30.77 A G . 0/1 5 None None None None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs75860863
dbSNP Clinvar 		13152658 30.77 A G . 0/1 5 None None None 0.03055 0.03055 None None None None None None OPTN|0.403602924|20.54%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2000404
dbSNP Clinvar 		81109708 30.77 T C . 0/1 5 None None None 0.68970 0.68970 None None None None None None PPIF|0.369863513|22.71%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2271561
dbSNP Clinvar 		61612199 30.77 T C . 0/1 6 None None None 0.13439 0.13440 None None None None None None CCDC6|0.392303176|21.24%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2579160
dbSNP Clinvar 		79541760 30.77 G A . 0/1 5 None None None 0.73962 0.73960 None None None None None None None

FRG2B
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs375000694
dbSNP Clinvar 		135438753 30.77 G A . 0/1 42 SYNONYMOUS_CODING LOW None None None None None None None FRG2B|0.002165263|90.54%
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs11189353
dbSNP Clinvar 		99510962 30.77 C T . 0/1 5 None None None 0.54533 0.54530 None None None None None None ZFYVE27|0.220548654|34.37%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs3758396
dbSNP Clinvar 		101455508 30.77 C T . 0/1 5 None None None 0.88179 0.88180 None None None None None None ENTPD7|0.209407283|35.63%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs55861344
dbSNP Clinvar 		129763552 30.77 T A . 0/1 5 None None None 0.03514 0.03514 None None None None None None PTPRE|0.026019241|71.31%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs7079072
dbSNP Clinvar 		102008169 30.77 C G . 0/1 6 None None None 0.43510 0.43510 None None None None None None CWF19L1|0.373991528|22.46%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs888209
dbSNP Clinvar 		101372043 30.77 G A . 0/1 5 None None None 0.83766 0.83770 None None None None None None SLC25A28|0.447611205|18.26%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs4328146
dbSNP Clinvar 		129854704 30.77 A G . 0/1 6 None None None 0.86482 0.86480 None None None None None None PTPRE|0.026019241|71.31%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs7900503
dbSNP Clinvar 		98136718 30.77 A G . 0/1 5 None None None 0.44868 0.44870 None None None None None None TLL2|0.163562888|41.07%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs7074620
dbSNP Clinvar 		33542835 30.77 T C . 0/1 6 None None None 0.69629 0.69630 None None None None None None NRP1|0.938544834|2.53%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2983851
dbSNP Clinvar 		81475020 30.77 T C . 0/1 6 None None None 0.11861 0.11860 None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs4748507
dbSNP Clinvar 		18957845 30.77 A T . 0/1 5 None None None 0.80351 0.80350 None None None None None None ARL5B|0.398835772|20.86%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs1769041
dbSNP Clinvar 		59956642 30.77 G A . 0/1 5 None None None 0.39876 0.39880 None None None None None None IPMK|0.260784829|30.68%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs796177502
dbSNP Clinvar 		38475756 30.77 A T . 0/1 13 None None None None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs796760040
dbSNP Clinvar 		38475773 30.77 A T . 0/1 12 None None None None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs7905579
dbSNP Clinvar 		69926594 30.77 G T . 0/1 5 None None None 0.31829 0.31830 None None None None None None MYPN|0.305057191|27.25%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs45479700
dbSNP Clinvar 		70197239 30.77 A T . 0/1 4 None None None 0.31869 0.31870 None None None None None None DNA2|0.305647946|27.17%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs10764115
dbSNP Clinvar 		37231580 30.77 T C . 0/1 6 None None None 0.52955 0.52960 None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2305198
dbSNP Clinvar 		71128875 30.77 T C . 0/1 6 None None None 0.44609 0.44610 None None None None None None HK1|0.110453712|49.13%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs77669554
dbSNP Clinvar 		133918659 30.77 C T . 0/1 6 None None None 0.08846 0.08846 None None None None None None JAKMIP3|0.043693446|64.62%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2813305
dbSNP Clinvar 		52007969 30.78 G A . 0/1 3 None None None 0.82887 0.82890 None None None None None None ASAH2|0.030478627|69.19%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs141463309
dbSNP Clinvar 		71280157 30.78 C T . 0/1 3 None None None 0.00200 0.00200 None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2002194
dbSNP Clinvar 		44892938 30.78 C A . 0/1 3 None None None 0.28175 0.28170 None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs1839344
dbSNP Clinvar 		42402004 30.78 T G . 1/1 3 None None None None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs61845360
dbSNP Clinvar 		42530528 31.74 G A . 1/1 2 None None None None None None None None None None

SKIDA1
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs865859755
dbSNP Clinvar 		21806020 31.74 G T . 1/1 2 SYNONYMOUS_CODING LOW None None None None None None None SKIDA1|0.439515262|18.69%
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs9703907
dbSNP Clinvar 		42388264 31.74 C A . 1/1 2 None None None None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs61845362
dbSNP Clinvar 		42530556 31.74 A T . 1/1 2 None None None None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs4114810
dbSNP Clinvar 		38978315 31.74 C T . 1/1 2 None None None None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs41307540
dbSNP Clinvar 		126185325 31.74 G A . 1/1 2 None None None 0.06090 0.06090 None None None None None None LHPP|0.028914846|69.91%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs1539591
dbSNP Clinvar 		115400264 31.77 C A . 0/1 5 None None None 0.56410 0.56410 None None None None None None NRAP|0.252539154|31.32%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs73336657
dbSNP Clinvar 		104263624 31.77 T G . 0/1 3 None None None 0.05192 0.05192 None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs75947010
dbSNP Clinvar 		126507773 31.77 A G . 0/1 6 None None None 0.06649 0.06649 None None None None None None FAM175B|0.196741335|37.08%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs55673448
dbSNP Clinvar 		5255179 31.77 C A . 0/1 5 None None None 0.07049 0.07049 None None None None None None AKR1C4|0.002829069|88.97%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs74131691
dbSNP Clinvar 		34601630 31.77 G C . 0/1 6 None None None 0.02935 0.02935 None None None None None None PARD3|0.729211938|7.68%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2663067
dbSNP Clinvar 		50155130 31.77 C T . 0/1 4 None None None 0.44848 0.44850 None None None None None None WDFY4|0.061116122|59.55%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs12247527
dbSNP Clinvar 		50394155 31.77 G A . 0/1 4 None None None None None None None None None C10orf128|0.001697215|91.89%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs12415976
dbSNP Clinvar 		71914508 31.77 C T . 0/1 3 None None None 0.38439 0.38440 None None None None None None SAR1A|0.865484194|4.37%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs12766778
dbSNP Clinvar 		7627677 31.77 G A . 0/1 4 None None None 0.37360 0.37360 None None None None None None ITIH5|0.026992759|70.89%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs7894269
dbSNP Clinvar 		26465426 31.77 G A . 0/1 4 None None None 0.08746 0.08746 None None None None None None MYO3A|0.317182273|26.3%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs3824705
dbSNP Clinvar 		26355721 31.77 T C . 0/1 5 None None None 0.39657 0.39660 None None None None None None MYO3A|0.317182273|26.3%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs1780182
dbSNP Clinvar 		26998358 31.77 C T . 0/1 4 None None None 0.48423 0.48420 None None None None None None PDSS1|0.538893405|14.24%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs7914993
dbSNP Clinvar 		12161073 31.77 A G . 0/1 4 None None None 0.43151 0.43150 None None None None None None DHTKD1|0.100987325|50.99%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2062984
dbSNP Clinvar 		12140258 31.77 G A . 0/1 5 None None None 0.72404 0.72400 None None None None None None DHTKD1|0.100987325|50.99%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs747045
dbSNP Clinvar 		95093897 31.77 C T . 0/1 4 None None None 0.70248 0.70250 None None None None None None MYOF|0.365145172|23.07%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs12262564
dbSNP Clinvar 		52329187 31.77 T C . 0/1 6 None None None 0.05252 0.05252 None None None None None None SGMS1|0.481775875|16.68%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs6481258
dbSNP Clinvar 		58938741 31.77 G A . 0/1 5 None None None 0.35483 0.35480 None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs11598911
dbSNP Clinvar 		24822219 31.77 C G . 0/1 6 None None None 0.10982 0.10980 None None None None None None KIAA1217|0.163143499|41.11%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs1549798
dbSNP Clinvar 		71169074 31.77 A G . 0/1 20 None None None 0.57029 0.57030 None None None None None None TACR2|0.074747696|56.35%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs10751397
dbSNP Clinvar 		42680864 31.77 A G . 0/1 30 None None None 0.41733 0.41730 None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs4746954
dbSNP Clinvar 		71849518 31.77 T A . 0/1 6 None None None 0.19189 0.19190 None None None None None None H2AFY2|0.622928652|11.03%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs61873767
dbSNP Clinvar 		122114730 31.77 G A . 0/1 8 None None None 0.25739 0.25740 None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs1016419342
dbSNP Clinvar 		133931144 31.78 G C . 0/1 3 None None None None None None None None None JAKMIP3|0.043693446|64.62%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs146536061
dbSNP Clinvar 		3140695 31.78 G A . 0/1 3 None None None 0.00719 0.00719 None None None None None None PFKP|0.031194886|68.91%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs181265773
dbSNP Clinvar 		13350781 31.78 C T . 0/1 3 None None None 0.04633 0.04633 None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs74486796
dbSNP Clinvar 		42600229 31.79 A G . 0/1 5 None None None None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs6602209
dbSNP Clinvar 		6866507 32.74 A G . 1/1 4 None None None None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs12260010
dbSNP Clinvar 		45555832 32.74 T C . 1/1 2 None None None 0.55252 0.55250 None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs11256543
dbSNP Clinvar 		10299093 32.74 A G . 1/1 2 None None None 0.81290 0.81290 None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs4935490
dbSNP Clinvar 		51894562 32.74 T C . 1/1 2 None None None None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs12782948
dbSNP Clinvar 		35450607 32.74 G A . 1/1 2 None None None 0.32748 0.32750 None None None None None None CREM|0.862321906|4.43%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs61848860
dbSNP Clinvar 		42400206 32.74 G A . 1/1 4 None None None None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs7085223
dbSNP Clinvar 		121566304 32.74 A G . 1/1 2 None None None 0.44509 0.44510 None None None None None None INPP5F|0.175944091|39.53%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs10902863
dbSNP Clinvar 		124787118 32.77 G A . 0/1 9 None None None 0.37041 0.37040 None None None None None None ACADSB|0.041043879|65.42%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs193016907
dbSNP Clinvar 		134712826 32.77 C T . 0/1 5 None None None 0.00140 0.00140 None None None None None None CFAP46|0.002457988|89.78%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs74520249
dbSNP Clinvar 		131184678 32.77 G A . 0/1 5 None None None 0.03634 0.03634 None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs56158198
dbSNP Clinvar 		92175790 32.77 T C . 0/1 5 None None None 0.15415 0.15420 None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs796505193
dbSNP Clinvar 		39079510 32.77 G T . 0/1 10 None None None None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs4935472
dbSNP Clinvar 		55588495 32.77 A G . 0/1 5 None None None 0.45228 0.45230 None None None None None None PCDH15|0.362630211|23.23%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs4333952
dbSNP Clinvar 		38939523 32.77 T C . 0/1 5 None None None None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs1900012
dbSNP Clinvar 		69953942 32.77 G A . 0/1 5 None None None 0.47424 0.47420 None None None None None None MYPN|0.305057191|27.25%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs1694493
dbSNP Clinvar 		70521041 32.77 A T . 0/1 5 None None None 0.85503 0.85500 None None None None None None CCAR1|0.615509188|11.27%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs113678555
dbSNP Clinvar 		70765356 32.77 C T . 0/1 5 None None None 0.04852 0.04852 None None None None None None KIF1BP|0.530420883|14.57%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs7100913
dbSNP Clinvar 		71648316 32.77 C T . 0/1 5 None None None 0.11302 0.11300 None None None None None None COL13A1|0.288371084|28.5%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs914701
dbSNP Clinvar 		45471422 32.77 C T . 0/1 4 None None None 0.48323 0.48320 None None None None None None RASSF4|0.051786386|62.12%,C10orf10|0.004454479|86.44%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 . 45652398 32.77 A T . 0/1 40 None None None None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2043947
dbSNP Clinvar 		13165481 32.77 C G . 0/1 4 None None None 0.28874 0.28870 None None None None None None OPTN|0.403602924|20.54%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs61855778
dbSNP Clinvar 		46187541 32.77 T C . 0/1 4 None None None None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs7086894
dbSNP Clinvar 		13175682 32.77 A C . 0/1 6 None None None 0.33486 0.33490 None None None None None None OPTN|0.403602924|20.54%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs199544548
dbSNP Clinvar 		46968912 32.77 A G . 0/1 17 None None None None None None None None None SYT15|0.013118244|78.44%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs1416765
dbSNP Clinvar 		60047077 32.77 G A . 0/1 5 None None None 0.39916 0.39920 None None None None None None CISD1|0.294546332|28.08%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs371431538
dbSNP Clinvar 		8723503 32.77 C T . 0/1 5 None None None None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs1753347
dbSNP Clinvar 		26825293 32.77 T C . 0/1 6 None None None 0.52516 0.52520 None None None None None None APBB1IP|0.030225745|69.31%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs750477
dbSNP Clinvar 		26851631 32.77 T A . 0/1 4 None None None 0.50579 0.50580 None None None None None None APBB1IP|0.030225745|69.31%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 . 11784361 32.77 G T . 0/1 6 None None None None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs111711640
dbSNP Clinvar 		27436867 32.77 T A . 0/1 4 None None None 0.10663 0.10660 None None None None None None YME1L1|0.744542525|7.24%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs7900024
dbSNP Clinvar 		27444763 32.77 C A . 0/1 4 None None None 0.50379 0.50380 None None None None None None MASTL|0.148437905|43.23%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs143084262
dbSNP Clinvar 		27523810 32.77 G A . 0/1 5 None None None 0.09325 0.09325 None None None None None None ACBD5|0.116795914|47.98%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs10822721
dbSNP Clinvar 		67874356 32.77 C T . 0/1 3 None None None 0.42252 0.42250 None None None None None None CTNNA3|0.937206882|2.58%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs7075865
dbSNP Clinvar 		74883756 32.77 T C . 0/1 4 None None None 0.23542 0.23540 None None None None None None NUDT13|0.121776978|47.18%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2242256
dbSNP Clinvar 		75597546 32.77 C G . 0/1 4 None None None 0.46905 0.46900 None None None None None None CAMK2G|0.971266872|1.68%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs1539455
dbSNP Clinvar 		95121560 32.77 T C . 0/1 6 None None None 0.51917 0.51920 None None None None None None MYOF|0.365145172|23.07%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs150221243
dbSNP Clinvar 		5948776 32.77 T C . 0/1 4 None None None 0.00479 0.00479 None None None None None None FBXO18|0.06871025|57.79%
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