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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

Export to: CSV
  • Page 1 of 101
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 rs113439641,rs35306425
dbSNP Clinvar 		50031212 32729.73 CT C . 1/1 136 None None None 0.34405 0.34400 None None None None None None WDFY4|0.061116122|59.55%

PWWP2B
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 rs11146364
dbSNP Clinvar 		134219045 8279.77 C T . 1/1 240 SYNONYMOUS_CODING LOW None 0.16374 0.16370 0.10623 None None None None None None PWWP2B|0.003381204|87.96%

NPY4R
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 rs1936339
dbSNP Clinvar 		47087608 8110.77 T C . 1/1 248 SYNONYMOUS_CODING LOW None 0.96466 0.96470 0.03860 None None None None None None NPY4R|0.03714507|66.73%

GPRIN2
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 rs3127822
dbSNP Clinvar 		47000004 7892.77 T C . 1/1 231 NON_SYNONYMOUS_CODING MODERATE None 0.94589 0.94590 0.04859 1.00 0.00 None None None None None None GPRIN2|0.008107767|82.54%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs3127824
dbSNP Clinvar 		47000188 7548.77 A G . 1/1 213 SYNONYMOUS_CODING LOW None 0.95128 0.95130 0.04069 None None None None None None GPRIN2|0.008107767|82.54%
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 rs2095560
dbSNP Clinvar 		46971188 7233.77 A T . 1/1 212 None None None 0.99181 0.99180 None None None None None None SYT15|0.013118244|78.44%

CALHM1
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 rs2986017
dbSNP Clinvar 		105218252 7176.77 A G . 1/1 216 NON_SYNONYMOUS_CODING MODERATE None 0.87201 0.87200 0.20363 0.44 0.00 None None None None None None CALHM1|0.140063286|44.38%
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 rs151189963
dbSNP Clinvar 		63422754 7068.73 G GG... . 1/1 54 None None None 0.98982 0.98980 None None None None None None C10orf107|0.277213376|29.34%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs58555368,rs796066107
dbSNP Clinvar 		8017033 6332.73 CA... C . 1/1 49 None None None 0.82328 0.82330 None None None None None None TAF3|0.283307036|28.85%

GPRIN2
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 rs112620425
dbSNP Clinvar 		46999591 6121.73 C CA... . 0/1 164 CODON_INSERTION MODERATE None 0.47903 0.47900 0.49369 None None None None None None GPRIN2|0.008107767|82.54%
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 rs943192
dbSNP Clinvar 		22830719 6017.77 G C . 1/1 171 None None None 0.92692 0.92690 0.09173 None None None None None None PIP4K2A|0.404416464|20.5%

IFIT5
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 rs304448
dbSNP Clinvar 		91178000 5778.77 C T . 1/1 165 SYNONYMOUS_CODING LOW None 0.65076 0.65080 0.43226 None None None None None None IFIT5|0.063319523|59.04%
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 rs33955821,rs796686207
dbSNP Clinvar 		12874175 5660.73 GC G . 1/1 137 None None None 1.00000 1.00000 None None None None None None CAMK1D|0.393461852|21.18%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2505567
dbSNP Clinvar 		36811018 5598.77 G A . 1/1 185 None None None 0.57388 0.57390 None None None None None None NAMPTP1|0.005672575|85.01%

CALHM1
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 rs2986018
dbSNP Clinvar 		105218359 5571.77 T C . 1/1 175 SYNONYMOUS_CODING LOW None 0.88478 0.88480 0.18169 None None None None None None CALHM1|0.140063286|44.38%

INPP5F
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 rs2289306
dbSNP Clinvar 		121551581 5563.77 A C . 1/1 160 None None None 0.41314 0.41310 0.41066 None None None None None None INPP5F|0.175944091|39.53%

GPAM
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 rs2254537
dbSNP Clinvar 		113917085 5547.77 T A . 1/1 163 SYNONYMOUS_CODING LOW None 0.75759 0.75760 0.27879 None None None None None None GPAM|0.215163179|34.97%

PCDH15
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 rs11003863
dbSNP Clinvar 		55568972 5506.77 T G . 1/1 167 None None None 0.29812 0.29810 0.14864 0.11 0.01 None None rs11003863 2 not_specified None PCDH15|0.362630211|23.23%
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 rs10762360
dbSNP Clinvar 		72059506 5503.77 G C . 1/1 152 None None None 0.60963 0.60960 None None None None None None LRRC20|0.198996643|36.83%

JMJD1C
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 rs1904294
dbSNP Clinvar 		64967445 5493.77 A T . 1/1 159 SYNONYMOUS_CODING LOW None 0.98682 0.98680 0.01694 None None None None None None JMJD1C|0.551954234|13.64%
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 rs10665098
dbSNP Clinvar 		1042023 5438.73 A AAAC . 1/1 89 None None None 0.99461 0.99460 0.00991 None None None None None None GTPBP4|0.204407833|36.18%

FAM208B
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 rs2797491
dbSNP Clinvar 		5788608 5383.77 G C . 1/1 157 NON_SYNONYMOUS_CODING MODERATE None 0.83606 0.83610 0.15739 1.00 0.00 None None None None None None FAM208B|0.026162013|71.24%
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 rs3008335
dbSNP Clinvar 		135098830 5357.77 T C . 1/1 157 None None None 0.89756 0.89760 None None None None None None TUBGCP2|0.131452902|45.7%

SLC29A3
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 rs1084004
dbSNP Clinvar 		73121945 5294.77 T C . 1/1 149 SYNONYMOUS_CODING LOW None 0.75379 0.75380 0.13340 None None None None None None SLC29A3|0.036742016|66.89%
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 rs373909753
dbSNP Clinvar 		135105962 5286.73 CC... C . 1/1 46 None None None 0.30132 0.30130 None None None None None None TUBGCP2|0.131452902|45.7%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs145159688
dbSNP Clinvar 		82031937 5277.73 C CC... . 0/1 96 None None None 0.49002 0.49000 None None None None None None MAT1A|0.18630029|38.24%

PCDH15
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 rs7921598
dbSNP Clinvar 		55955485 5269.77 A G . 1/1 148 SYNONYMOUS_CODING LOW None 0.25599 0.25600 0.24681 None None None None None None PCDH15|0.362630211|23.23%

NRP1
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 rs7079053
dbSNP Clinvar 		33552696 5226.77 A G . 1/1 161 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00054 1.00 0.00 None None None None None None NRP1|0.938544834|2.53%

INPP5F
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 rs3188055
dbSNP Clinvar 		121586882 5216.77 A G . 1/1 147 NON_SYNONYMOUS_CODING MODERATE None 0.26897 0.26900 0.30855 0.60 0.00 None None None None None None INPP5F|0.175944091|39.53%
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 rs4564217
dbSNP Clinvar 		12874119 5190.77 G A . 1/1 156 None None None 0.99760 0.99760 None None None None None None CAMK1D|0.393461852|21.18%

PCDH15
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 rs10825269
dbSNP Clinvar 		55955610 5176.77 C T . 1/1 147 NON_SYNONYMOUS_CODING MODERATE None 0.24321 0.24320 0.23435 0.83 0.00 None None rs10825269 2 not_specified None PCDH15|0.362630211|23.23%
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 rs1046445
dbSNP Clinvar 		81145642 5100.77 T C . 1/1 154 None None None 0.94389 0.94390 None None None None None None ZCCHC24|0.161197906|41.38%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs28666990
dbSNP Clinvar 		47000426 5036.77 T C . 1/1 149 None None None 0.98502 0.98500 None None None None None None GPRIN2|0.008107767|82.54%

CALHM3
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 rs2986035
dbSNP Clinvar 		105233110 4986.77 C T . 1/1 149 NON_SYNONYMOUS_CODING MODERATE None 0.74022 0.74020 1.00 0.01 None None None None None None CALHM3|0.072897037|56.8%
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 rs1122918
dbSNP Clinvar 		72298631 4979.77 T C . 1/1 149 None None None 0.90056 0.90060 0.10122 None None None None None None PALD1|0.038632473|66.24%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2075912
dbSNP Clinvar 		43622217 4960.77 T C . 1/1 143 None None None 0.75499 0.75500 0.14667 None None None None None None RET|0.976360102|1.58%

NAMPTL
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 rs2503084
dbSNP Clinvar 		36812362 4938.77 C T . 1/1 143 SYNONYMOUS_CODING LOW None 0.50340 0.50340 None None None None None None NAMPTP1|0.005672575|85.01%
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 rs67530050
dbSNP Clinvar 		97920099 4904.73 T TC . 1/1 118 None None None 1.00000 1.00000 0.00026 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 rs1887006
dbSNP Clinvar 		129537454 4900.77 A G . 1/1 137 None None None 0.99521 0.99520 None None None None None None FOXI2|0.007622433|82.95%

RUFY2
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 rs1162753
dbSNP Clinvar 		70105560 4888.77 G A . 1/1 145 SYNONYMOUS_CODING LOW None 0.80312 0.80310 0.16196 None None None None None None RUFY2|0.296193002|27.94%

ATE1
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 rs10749435
dbSNP Clinvar 		123673339 4880.77 T C . 1/1 151 SYNONYMOUS_CODING LOW None 0.89916 0.89920 0.08473 None None None None None None ATE1|0.12976795|45.9%

PTCHD3
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 rs1638630
dbSNP Clinvar 		27687775 4861.77 T C . 1/1 145 NON_SYNONYMOUS_CODING MODERATE None 0.97504 0.97500 0.03960 1.00 0.00 None None None None None None PTCHD3|0.001856639|91.39%
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 rs1053454
dbSNP Clinvar 		22826093 4829.77 A C . 1/1 142 None None None 0.74800 0.74800 0.30901 None None None None None None PIP4K2A|0.404416464|20.5%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs146292747,rs765967275,rs753627516,rs754730842,rs778934192,rs59213222
dbSNP Clinvar 		81073027 4810.73 CC... C . 0/1 108 None None None 0.32688 0.32690 None None None None None None ZMIZ1|0.614092184|11.32%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs60770870
dbSNP Clinvar 		122358656 4792.73 A AGTG . 1/1 78 None None None 0.98542 0.98540 None None None None None None LINC01561|0.001028335|95.24%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs7090944
dbSNP Clinvar 		13206233 4781.77 A T . 1/1 149 None None None 0.79693 0.79690 0.25173 None None None None None None MCM10|0.033062019|68.13%

SH3PXD2A
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 rs4917396
dbSNP Clinvar 		105362209 4778.77 T C . 1/1 136 SYNONYMOUS_CODING LOW None 0.91254 0.91250 0.16592 None None None None None None SH3PXD2A|0.240518285|32.38%
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 rs3832689,rs61640935
dbSNP Clinvar 		72532106 4778.73 AT... A . 0/1 102 None None None 0.29413 0.29410 None None None None None None TBATA|0.008990743|81.69%

PITRM1
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 rs2279217
dbSNP Clinvar 		3181003 4766.77 A G . 1/1 141 None None None 0.69529 0.69530 None None None None None None PITRM1|0.017462354|75.61%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2394647
dbSNP Clinvar 		71898355 4753.77 C T . 1/1 146 None None None 0.94409 0.94410 None None None None None None TYSND1|0.02354134|72.4%

ZNF239
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 rs2230660
dbSNP Clinvar 		44053013 4716.77 G C . 1/1 133 NON_SYNONYMOUS_CODING MODERATE None 0.46665 0.04 0.12 None None None None None None ZNF239|0.007816673|82.75%
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 rs3078330
dbSNP Clinvar 		61122268 4713.73 T TTA . 1/1 89 None None None 0.99641 0.99640 0.00623 None None None None None None FAM13C|0.181731447|38.82%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2255262
dbSNP Clinvar 		135234078 4682.77 A G . 1/1 132 None None None 0.99301 0.99300 None None None None None None MTG1|0.02988527|69.46%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs7091457
dbSNP Clinvar 		104377762 4671.77 T C . 1/1 142 None None None 0.99082 0.99080 None None None None None None SUFU|0.829061661|5.1%

EBLN1
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 rs2478476
dbSNP Clinvar 		22498749 4601.77 A T . 1/1 140 NON_SYNONYMOUS_CODING MODERATE None 0.99880 0.99880 1.00 0.00 None None None None None None EBLN1|0.002252414|90.27%

NPY4R
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 rs1048158
dbSNP Clinvar 		47087731 4537.77 C T . 0/1 250 SYNONYMOUS_CODING LOW None 0.82668 0.82670 0.26934 None None None None None None NPY4R|0.03714507|66.73%

SH3PXD2A
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 rs4918031
dbSNP Clinvar 		105361816 4509.77 T G . 1/1 128 SYNONYMOUS_CODING LOW None 0.87999 0.88000 0.19852 None None None None None None SH3PXD2A|0.240518285|32.38%

MALRD1
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 rs2358355
dbSNP Clinvar 		19498278 4489.77 G A . 1/1 130 NON_SYNONYMOUS_CODING MODERATE None 0.93550 0.93550 0.34 0.00 None None None None None None MALRD1|0.023114919|72.62%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs1445157
dbSNP Clinvar 		49690351 4468.77 T C . 1/1 129 None None None 0.94748 0.94750 None None None None None None ARHGAP22|0.033591165|67.92%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs10675399,rs397706097
dbSNP Clinvar 		13489148 4464.73 T TG... . 1/1 64 None None None 0.27855 0.27860 None None None None None None BEND7|0.19658774|37.1%

BICC1
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 rs9416746
dbSNP Clinvar 		60573753 4452.77 G T . 1/1 134 None None None 0.74661 0.74660 0.24881 0.11 0.00 None None None None None None BICC1|0.434919209|18.95%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs10642285,rs397820841
dbSNP Clinvar 		43690529 4445.73 C CAG . 1/1 97 None None None 0.99840 0.99840 None None None None None None RASGEF1A|0.147306183|43.42%

GPAM
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 rs2277207
dbSNP Clinvar 		113920465 4431.77 G A . 1/1 133 SYNONYMOUS_CODING LOW None 0.55351 0.55350 0.44157 None None None None None None GPAM|0.215163179|34.97%

TAF3
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 rs4747647
dbSNP Clinvar 		8006798 4425.77 A G . 1/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.54213 0.54210 0.47082 0.49 0.00 None None None None None None TAF3|0.283307036|28.85%

WDR37
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 rs10794716
dbSNP Clinvar 		1142208 4388.77 T C . 1/1 131 None None None 0.98762 0.98760 0.00877 None None None None None None WDR37|0.315194706|26.42%

NPY4R
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 rs1129838
dbSNP Clinvar 		47087474 4376.77 C T . 0/1 250 SYNONYMOUS_CODING LOW None 0.27034 None None None None None None NPY4R|0.03714507|66.73%
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 rs7094698
dbSNP Clinvar 		3183747 4366.77 A G . 1/1 140 None None None 0.69748 0.69750 None None None None None None PITRM1|0.017462354|75.61%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs9423695
dbSNP Clinvar 		3171857 4344.77 T C . 1/1 138 None None None 0.50779 0.50780 None None None None None None PFKP|0.031194886|68.91%

KIAA1462
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 rs7920682
dbSNP Clinvar 		30317826 4326.77 A G . 1/1 131 SYNONYMOUS_CODING LOW None 0.53335 0.53330 0.40558 None None None None None None KIAA1462|0.000988377|95.5%

IFIT2
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 rs954439
dbSNP Clinvar 		91066460 4323.77 T A . 1/1 125 SYNONYMOUS_CODING LOW None 0.68131 0.68130 0.40491 None None None None None None LIPA|0.012788499|78.66%,IFIT2|0.004942619|85.88%

ITIH5
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 rs2275069
dbSNP Clinvar 		7618686 4318.77 T G . 1/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.53055 0.53060 0.49400 1.00 0.00 None None None None None None ITIH5|0.026992759|70.89%

ERCC6-PGBD3
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 rs4253073
dbSNP Clinvar 		50723684 4295.77 G A . 1/1 125 SYNONYMOUS_CODING LOW None 0.89337 0.89340 0.15093 None None None None None None ERCC6|0.075391491|56.19%,PGBD3|0.004078009|86.88%,ERCC6-PGBD3|0.004595381|86.32%

ANKRD16
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 rs1052420
dbSNP Clinvar 		5920121 4292.77 T C . 1/1 135 NON_SYNONYMOUS_CODING MODERATE None 0.80391 0.80390 0.17846 0.33 0.00 None None None None None None ANKRD16|0.021840736|73.25%
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 rs4880338
dbSNP Clinvar 		133981682 4289.77 G A . 1/1 120 None None None 0.62420 0.62420 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 rs7089153
dbSNP Clinvar 		135038832 4263.77 G C . 1/1 129 None None None 0.99561 0.99560 None None None None None None KNDC1|0.003991691|87.04%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs10736219
dbSNP Clinvar 		113923595 4256.77 C G . 1/1 121 None None None 0.55312 0.55310 0.44333 None None None None None None GPAM|0.215163179|34.97%

KIAA1462
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 rs2185724
dbSNP Clinvar 		30316208 4234.77 T C . 1/1 135 NON_SYNONYMOUS_CODING MODERATE None 0.33706 0.33710 0.40548 0.26 0.01 None None None None None None KIAA1462|0.000988377|95.5%

MASTL
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 rs10741130
dbSNP Clinvar 		27475444 4221.77 T C . 1/1 134 SYNONYMOUS_CODING LOW None 0.51098 0.51100 0.37452 None None None None None None MASTL|0.148437905|43.23%

AFAP1L2
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 rs2286396
dbSNP Clinvar 		116060387 4219.77 T C . 1/1 127 SYNONYMOUS_CODING LOW None 0.64157 0.64160 0.31855 None None None None None None AFAP1L2|0.092781823|52.66%
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 rs7070208
dbSNP Clinvar 		7866268 4205.77 C G . 1/1 120 None None None 0.96645 0.96650 0.02759 None None None None None None TAF3|0.283307036|28.85%

TET1
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 rs3998860
dbSNP Clinvar 		70405855 4192.77 A G . 1/1 119 NON_SYNONYMOUS_CODING MODERATE None 0.69329 0.69330 0.27879 0.09 0.01 None None None None None None TET1|0.034962609|67.48%
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 rs7080988
dbSNP Clinvar 		135235407 4170.77 C G . 1/1 120 None None None 0.94149 0.94150 None None None None None None SPRN|0.004340936|86.55%

ECHDC3
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 rs7899215
dbSNP Clinvar 		11797436 4161.77 T C . 1/1 126 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.93131 0.93130 0.06366 None None None None None None ECHDC3|0.029496468|69.61%

ZNF239
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 rs2230661
dbSNP Clinvar 		44052903 4154.77 A C . 1/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.54493 0.54490 0.46609 0.00 0.99 None None None None None None ZNF239|0.007816673|82.75%

ITIH5
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 rs61199416,rs398102295
dbSNP Clinvar 		7605077 4151.73 TC T . 1/1 102 FRAME_SHIFT HIGH None 0.90355 0.90360 0.09682 None None None None None None ITIH5|0.026992759|70.89%

KIAA1462
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 rs7920686
dbSNP Clinvar 		30317838 4143.77 A G . 1/1 127 SYNONYMOUS_CODING LOW None 0.52336 0.52340 0.41305 None None None None None None KIAA1462|0.000988377|95.5%
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 rs169097
dbSNP Clinvar 		44868083 4140.77 A G . 1/1 130 None None None 0.94629 0.94630 None None None None None None CXCL12|0.955724664|2.08%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs813935
dbSNP Clinvar 		29136129 4125.77 A G . 1/1 121 None None None 0.96725 0.96730 None None None None None None C10orf126|0.001798077|91.53%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs7077329
dbSNP Clinvar 		104161967 4120.77 T C . 1/1 139 None None None 0.69229 0.69230 0.29603 None None None None None None NFKB2|0.301381383|27.56%

FAM208B
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 rs2669142
dbSNP Clinvar 		5790420 4120.77 T C . 1/1 122 NON_SYNONYMOUS_CODING MODERATE None 0.97744 0.97740 0.02119 0.14 0.00 None None None None None None FAM208B|0.026162013|71.24%
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 rs11408564
dbSNP Clinvar 		13489201 4110.73 A AT . 1/1 98 None None None 0.39976 0.39980 0.38009 None None None None None None BEND7|0.19658774|37.1%

CHAT
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 rs8178992
dbSNP Clinvar 		50863147 4081.77 T C . 1/1 126 SYNONYMOUS_CODING LOW None 0.79353 0.79350 0.16016 None None None None None None CHAT|0.652613184|10%

GPRIN2
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 rs3127679
dbSNP Clinvar 		46999190 4073.77 A G . 0/1 164 NON_SYNONYMOUS_CODING MODERATE None 0.91094 0.91090 1.00 0.00 None None None None None None GPRIN2|0.008107767|82.54%
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 rs11299200,rs398015012
dbSNP Clinvar 		125622250 4070.73 CA C . 1/1 103 None None None 0.81270 0.81270 0.16560 None None None None None None CPXM2|0.079939383|55.19%

PFKP
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 rs1052333
dbSNP Clinvar 		3172121 4062.77 C T . 1/1 129 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.41234 0.41230 0.39197 None None None None None None PFKP|0.031194886|68.91%
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 rs1059484
dbSNP Clinvar 		43679800 4062.77 T G . 1/1 118 None None None 0.76617 0.76620 None None None None None None CSGALNACT2|0.333136707|25.23%

SGPL1
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 rs827255
dbSNP Clinvar 		72619205 4060.77 C T . 1/1 122 SYNONYMOUS_CODING LOW None 0.98482 0.98480 0.01745 None None None None None None SGPL1|0.324655534|25.82%

GPRIN2
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 rs3127683
dbSNP Clinvar 		46999604 4058.77 A G . 0/1 168 NON_SYNONYMOUS_CODING MODERATE None 0.03934 0.80730 1.00 0.00 None None None None None None GPRIN2|0.008107767|82.54%
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 rs6858
dbSNP Clinvar 		81142365 4047.77 C T . 1/1 120 None None None 0.45647 0.45650 None None None None None None ZCCHC24|0.161197906|41.38%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs7905087
dbSNP Clinvar 		99422648 4040.77 A G . 1/1 124 None None None 0.40695 0.40690 0.42073 None None None None None None PI4K2A|0.347953253|24.29%
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