+ Filter Options

SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
 EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
 CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE 		MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

+ Genes 395

Genes:
ABCC2, ABLIM1, ACADSB, ACBD5, ADAM12, ADAM8, ADAMTS14, ADARB2, ADIRF, ADO, ADRB1, AFAP1L2, AGAP5, AGAP6, AGAP7, AGAP8, AIFM2, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1CL1, AL162407.1, AL359195.1, AL359878.1, AL450307.1, AL603965.1, ALDH18A1, ANK3, ANKRD16, ANKRD2, ANKRD22, ANKRD26, ANKRD30A, ANTXRL, ANXA11, ANXA8L2, APBB1IP, ARHGAP19, ARHGAP21, ARHGAP22, ARID5B, ARL3, ARMC4, ARMS2, ASAH2C, ATE1, ATRNL1, AVPI1, BAG3, BEND7, BICC1, BMS1, BTBD16, BTRC, C10ORF68, C10orf107, C10orf12, C10orf120, C10orf128, C10orf129, C10orf35, C10orf53, C10orf54, C10orf67, C10orf71, C10orf90, CALHM1, CALHM3, CALML3, CAMK1D, CASP7, CC2D2B, CCAR1, CCDC3, CCDC6, CCDC7, CCNY, CCSER2, CDH23, CDHR1, CELF2, CEP55, CH25H, CHAT, CHST3, CNNM1, CNNM2, COL13A1, COL17A1, COX15, CPEB3, CPXM2, CRTAC1, CTBP2, CTNNA3, CUBN, CUL2, CYP17A1, CYP26C1, CYP2C18, CYP2C19, CYP2C8, CYP2E1, DCLRE1A, DCLRE1C, DDX50, DHTKD1, DHX32, DIP2C, DKK1, DLG5, DMBT1, DNMBP, DNTT, DOCK1, DPYSL4, DUPD1, DUSP13, DUSP5, EBLN1, ECHDC3, ECHS1, EDRF1, EGR2, EIF3A, EIF4EBP2, ELOVL3, ENO4, ENTPD7, EPC1, ERCC6, ERCC6-PGBD3, EXOC6, FAM13C, FAM160B1, FAM170B, FAM175B, FAM178A, FAM196A, FAM208B, FAM21A, FAM21B, FAM25A, FAM35A, FAM45A, FANK1, FAS, FFAR4, FGFBP3, FGFR2, FRA10AC1, FRG2B, FRMD4A, FRMPD2, FZD8, GBF1, GFRA1, GLRX3, GPAM, GPR123, GPR158, GPR26, GPRIN2, GRK5, GSTO1, GTPBP4, HABP2, HECTD2, HELLS, HIF1AN, HK1, HKDC1, HOGA1, HPS1, HPSE2, HSPA12A, HTRA1, IDI2, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, IL15RA, INPP5A, ITGA8, ITGB1, ITIH2, ITIH5, JAKMIP3, JMJD1C, KAT6B, KAZALD1, KCNK18, KIAA1217, KIAA1462, KIF20B, KNDC1, LGI1, LHPP, LIPA, LIPJ, LIPM, LIPN, LOXL4, LRIT1, LRIT2, LRRC27, LYZL1, LYZL2, MALRD1, MAP3K8, MARCH8, MARVELD1, MASTL, MBL2, MEIG1, MGMT, MKI67, MKX, MMP21, MMRN2, MMS19, MPP7, MRC1L1, MSRB2, MTG1, MTPAP, MXI1, MYO3A, MYOF, MYPN, NAMPTL, NCOA4, NDUFB8, NEBL, NET1, NEURL1, NEUROG3, NFKB2, NKX6-2, NOC3L, NODAL, NPFFR1, NPY4R, NRAP, NRG3, NRP1, NT5C2, NUDT5, NUTM2A, NUTM2D, OBFC1, OGDHL, OLAH, OPN4, OPTN, PALD1, PANK1, PAOX, PAPSS2, PARD3, PBLD, PCDH15, PCGF6, PDCD11, PDCD4, PDZD8, PFKFB3, PFKP, PHYH, PHYHIPL, PIK3AP1, PIP4K2A, PITRM1, PKD2L1, PLCE1, PLEKHA1, PLEKHS1, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, PPAPDC1A, PPIF, PPP2R2D, PPP3CB, PRAP1, PRDX3, PRF1, PRKCQ, PRLHR, PROSER2, PRPF18, PRR26, PSAP, PSTK, PTCHD3, PTER, PTF1A, PTPLA, PWWP2B, PYROXD2, R3HCC1L, RAB11FIP2, RASSF4, RBM20, RET, RNLS, RP11-248J23.6, RP11-451M19.3, RPP38, RRP12, RSU1, RTKN2, RUFY2, SEC23IP, SEC31B, SEC61A2, SEMA4G, SEPHS1, SFMBT2, SFTPA1, SFTPA2, SFTPD, SFXN4, SGPL1, SH2D4B, SH3PXD2A, SLC16A9, SLC18A3, SLC29A3, SLC39A12, SLIT1, SLK, SMC3, SORBS1, SORCS1, SORCS3, SPOCK2, SPRN, SRGN, ST8SIA6, STK32C, STOX1, SUPV3L1, SVIL, SYCE1, SYT15, TACC2, TACR2, TAF5, TBATA, TBC1D12, TCERG1L, TCF7L2, TET1, TEX36, THNSL1, TIMM23, TMEM180, TMEM254, TMEM72, TTC40, TUBAL3, TUBB8, TUBGCP2, TYSND1, UBE2D1, UCMA, UNC5B, USP6NL, UTF1, VENTX, VSTM4, WAPAL, WBP1L, WDFY4, WDR11, WDR37, WNT8B, ZFAND4, ZFYVE27, ZMYND11, ZNF239, ZNF33B, ZNF365, ZNF37A, ZNF487, ZNF488, ZRANB1, ZWINT,

+ Genes associated with diseases 88

Genes at Omim

ABCC2, ACADSB, ADRB1, AKR1C2, AKR1C4, ALDH18A1, ANK3, ANKRD26, ANXA11, ARL3, ARMC4, BAG3, BICC1, BMS1, CDH23, CDHR1, CEP55, CHAT, CHST3, CNNM2, COL13A1, COL17A1, COX15, CTNNA3, CUBN, CYP17A1, CYP26C1, CYP2C8, DCLRE1C, DHTKD1, ECHS1, EGR2, ERCC6, FAS, FFAR4, FGFR2, FRMD4A, HABP2, HELLS, HK1, HOGA1, HPS1, HPSE2, HTRA1, ITGA8, KAT6B, KCNK18, LGI1, LIPA, LIPN, MAP3K8, MBL2, MMP21, MTPAP, MXI1, MYO3A, MYPN, NDUFB8, NEUROG3, NFKB2, NKX6-2, NODAL, NT5C2, OPTN, PAPSS2, PCDH15, PHYH, PLCE1, PNLIP, PRF1, PSAP, PTF1A, RBM20, RET, SFTPA2, SFXN4, SGPL1, SLC18A3, SLC29A3, SMC3, STOX1, SYCE1, TCF7L2, TUBB8, WDR11, ZFYVE27, ZMYND11, ZNF365,
ABCC2 Dubin-Johnson syndrome, 237500 (3)
ACADSB 2-methylbutyrylglycinuria, 610006 (3)
ADRB1 [Resting heart rate], 607276 (3)
{Congestive heart failure and beta-blocker response, modifier of} (3)
AKR1C2 46XY sex reversal 8, 614279 (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)
ANK3 ?Mental retardation, autosomal recessive, 37, 615493 (3)
ANKRD26 Thrombocytopenia 2, 188000 (3)
ANXA11 Amytrophic lateral sclerosis 23, 617839 (3)
ARL3 Joubert syndrome 35, 618161 (3)
?Retinitis pigmentosa 83, 618173 (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)
BMS1 ?Aplasia cutis congenita, nonsyndromic, 107600 (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)
CDHR1 Cone-rod dystrophy 15, 613660 (3)
Retinitis pigmentosa 65, 613660 (3)
CEP55 Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500 (3)
CHAT Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
CHST3 Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3)
CNNM2 Hypomagnesemia 6, renal, 613882 (3)
Hypomagnesemia, seizures, and mental retardation, 616418 (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)
CYP17A1 17,20-lyase deficiency, isolated, 202110 (3)
17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3)
CYP26C1 Focal facial dermal dysplasia 4, 614974 (3)
CYP2C8 {Drug metabolism, altered, CYP2C8-related}, 618018 (3)
DCLRE1C Omenn syndrome, 603554 (3)
Severe combined immunodeficiency, Athabascan type, 602450 (3)
DHTKD1 2-aminoadipic 2-oxoadipic aciduria, 204750 (3)
?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (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)
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)
FAS Autoimmune lymphoproliferative syndrome, type IA, 601859 (3)
Squamous cell carcinoma, burn scar-related, somatic (3)
{Autoimmune lymphoproliferative syndrome}, 601859 (3)
FFAR4 {Obesity, susceptibility to}, 607514 (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)
FRMD4A ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 (3)
HABP2 {Venous thromboembolism, susceptibility to}, 188050 (3)
{?Thyroid cancer, nonmedullary, 5}, 616535 (3)
HELLS Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911 (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)
HPSE2 Urofacial syndrome 1, 236730 (3)
HTRA1 CARASIL syndrome, 600142 (3)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 (3)
{Macular degeneration, age-related, 7}, 610149 (3)
{Macular degeneration, age-related, neovascular type}, 610149 (3)
ITGA8 Renal hypodysplasia/aplasia 1, 191830 (3)
KAT6B Genitopatellar syndrome, 606170 (3)
SBBYSS syndrome, 603736 (3)
KCNK18 {Migraine, with or without aura, susceptibility to, 13}, 613656 (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)
MBL2 {Chronic infections, due to MBL deficiency}, 614372 (3)
MMP21 Heterotaxy, visceral, 7, autosomal, 616749 (3)
MTPAP ?Spastic ataxia 4, autosomal recessive, 613672 (3)
MXI1 Neurofibrosarcoma, somatic (3)
Prostate cancer, somatic, 176807 (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)
NDUFB8 Mitochondrial complex I deficiency, nuclear type 32, 618252 (3)
NEUROG3 Diarrhea 4, malabsorptive, congenital, 610370 (3)
NFKB2 Immunodeficiency, common variable, 10, 615577 (3)
NKX6-2 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3)
NODAL Heterotaxy, visceral, 5, 270100 (3)
NT5C2 Spastic paraplegia 45, autosomal recessive, 613162 (3)
OPTN {Glaucoma, normal tension, susceptibility to}, 606657 (3)
Amyotrophic lateral sclerosis 12, 613435 (3)
Glaucoma 1, open angle, E, 137760 (3)
PAPSS2 Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3)
PCDH15 Deafness, autosomal recessive 23, 609533 (3)
Usher syndrome, type 1D/F digenic, 601067 (3)
Usher syndrome, type 1F, 602083 (3)
PHYH Refsum disease, 266500 (3)
PLCE1 Nephrotic syndrome, type 3, 610725 (3)
PNLIP ?Pancreatic lipase deficiency, 614338 (3)
PRF1 Aplastic anemia, 609135 (3)
Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)
Lymphoma, non-Hodgkin, 605027 (3)
PSAP Gaucher disease, atypical, 610539 (3)
Combined SAP deficiency, 611721 (3)
Krabbe disease, atypical, 611722 (3)
Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3)
PTF1A Pancreatic agenesis 2, 615935 (3)
Pancreatic and cerebellar agenesis, 609069 (3)
RBM20 Cardiomyopathy, dilated, 1DD, 613172 (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)
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)
SYCE1 ?Premature ovarian failure 12, 616947 (3)
?Spermatogenic failure 15, 616950 (3)
TCF7L2 {Diabetes mellitus, type 2, susceptibility to}, 125853 (3)
TUBB8 Oocyte maturation defect 2, 616780 (3)
WDR11 Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (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, AKR1C2, ALDH18A1, ANKRD26, ARMC4, BAG3, BICC1, BMS1, CDH23, CDHR1, CHAT, CHST3, CNNM2, COL13A1, COL17A1, COX15, CTNNA3, CUBN, CYP17A1, CYP26C1, CYP2C19, CYP2C8, DCLRE1C, DHTKD1, ECHS1, EGR2, ERCC6, FAS, FGFR2, FRMD4A, HABP2, HELLS, HK1, HOGA1, HPS1, HPSE2, HTRA1, ITGA8, KAT6B, KCNK18, LGI1, LIPA, LIPN, MASTL, MBL2, MMP21, MTPAP, MYO3A, MYPN, NEUROG3, NFKB2, NODAL, NT5C2, OPTN, PAPSS2, PCDH15, PHYH, PLCE1, PRF1, PSAP, PTF1A, RBM20, RET, SFTPA2, SFXN4, SLC29A3, SMC3, SYCE1, TUBB8, WDR11, ZFYVE27, ZMYND11,
ABCC2 Dubin-Johnson syndrome
ACADSB 2-methylbutyryl-CoA dehydrogenase deficiency
ADRB1 Beta-blocker response, association with
AKR1C2 46,XY sex reversal 8
ALDH18A1 Cutis laxa, autosomal dominant 3
Spastic paraplegia 9A, autosomal dominant
Cutis laxa, autosomal recessive, type IIIA
Spastic paraplegia 9B, autosomal recessive
ANKRD26 Thrombocytopenia 2
ARMC4 Ciliary dyskinesia, primary, 23
BAG3 Cardiomyopathy, dilated, 1HH
Myopathy, myofibrillar 6
BICC1 Renal dysplasia, cystic, susceptibility to
BMS1 Aplasia cutis congenita, nonsyndromic
CDH23 Deafness, autosomal recessive 12
Usher syndrome, type 1D
Usher syndrome, type 1D /F digenic
CDHR1 Cone-rod dystrophy 15
Retinitis pigmentosa 65
CHAT Myasthenic syndrome, congenital 6, presynaptic
CHST3 Spondyloepiphyseal dysplasia with congenital joint dislocations
CNNM2 Hypomagnesemia 6 ,renal
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
CYP17A1 Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
CYP26C1 Focal facial dermal dysplasia 4
CYP2C19 Drug metabolism, CYP2C19-related
CYP2C8 Rhabdomyolysis, cerivastatin-induced
DCLRE1C Omenn syndrome
Severe combined immunodeficiency with sensitivity to ionizing radiation
DHTKD1 Charcot-Marie-Tooth disease, type 2Q
2-aminoadipic and 2-oxoadipic aciduria
ECHS1 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
EGR2 Charcot-Marie-Tooth disease, demyelinating, type 1D
Neuropathy, congenital hypomyelinating, 1
Dejerine-Sottas disease
ERCC6 Xeroderma Pigmentosum-Cockayne Syndrome
De Sanctis-Cacchione syndrome
Premature ovarian failure 11 (AD)
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
FRMD4A Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia (Fine-Flusser syndrome)
HABP2 Thyroid cancer, nonmedullary 5
HELLS Immunodeficiency-centromeric instability-facial anomalies syndrome 4
HK1 Hemolytic anemia, nonspherocytic, due to hexokinase deficiency
HOGA1 Hyperoxaluria, primary, type III
HPS1 Hermansky-Pudlak syndrome 1
HPSE2 Ochoa syndrome
Urofacial syndrome 1
HTRA1 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 (CADASIL2)
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)
ITGA8 Renal agenesis, bilateral
KAT6B Ohdo syndrome, SBBYS variant
Genitopatellar syndrome
KCNK18 Migraine, with or without aura, susceptibility to, 13
LGI1 Epilepsy, familial temporal lobe, 1
LIPA Cholesterol ester storage disease
Wolman disease
LIPN Ichthyosis, congenital, autosomal recessive 8
MASTL Thrombocytopenia 2
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
NODAL Heterotaxy, visceral, 5
NT5C2 Spastic paraplegia 45
OPTN Glaucoma, normal tension, susceptibility to
Glaucoma 1, open angle, E
PAPSS2 Brachyolmia 4 with mild epiphyseal and metaphyseal changes
PCDH15 Deafness, autosomal recessive 23
Usher syndrome, type 1F
Usher syndrome, type 1D/F, digenic
PHYH Refsum disease
PLCE1 Nephrotic syndrome, type 3
PRF1 Hemophagocytic lymphohistiocytosis, familial, 2
Lymphoma, non-Hodgkin
Aplastic anemia, adult-onset
PSAP Krabbe disease, atypical
Combined saposin deficiency
Gaucher disease, atypical, due to saposin C deficiency
Metachromatic leukodystrophy due to saposin-b deficiency
PTF1A Pancreatic and cerebellar agenesis
Pancreatic agenesis 2
RBM20 Cardiomyopathy, dilated, 1DD
RET Central hypoventilation syndrome, congenital
Multiple endocrine neoplasia, type IIA
Multiple endocrine neoplasia IIB
Medullary thyroid carcinoma, familial
Pheochromocytoma
Hirschsprung disease, susceptibility to 1
SFTPA2 Pulmonary fibrosis, idiopathic
SFXN4 Combined oxidative phosphorylation deficiency 18
SLC29A3 Histiocytosis-lymphadenopathy plus syndrome
SMC3 Cornelia de Lange syndrome 3
SYCE1 Premature ovarian failure 12
TUBB8 Oocyte maturation defect 2
WDR11 Hypogonadotropic hypogonadism
Kallmann syndrome
ZFYVE27 Spastic paraplegia 33, autosomal dominant
ZMYND11 Mental retardation, autosomal domianant, 30

Genes at HGMD

Summary

Number of Variants: 3498
Number of Genes: 395

Export to: CSV
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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 121596290 33.47 TT... TC,T PASS 0/1 5 None None None None None None None None None MCMBP|0.269919221|29.89%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 71664672 179.47 TT... T PASS 0/1 15 None None None None None None None None None COL13A1|0.288371084|28.5%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 4877814 1456.73 TT... TT... PASS 1/1 34 None None None None None None None None None AKR1E2|0.003819928|87.28%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 122648750 465.73 TT... TT... PASS 0/1 21 None None None None None None None None None WDR11|0.176317325|39.5%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 11356093 810.73 TTTT TT... PASS 1/1 17 None None None None None None None None None CELF2|0.969616641|1.73%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 124189010 124.73 TT... TT... PASS 0/1 14 None None None None None None None None None PLEKHA1|0.447001935|18.3%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 127529756 296.73 TT... TT... PASS 0/1 23 None None None None None None None None None BCCIP|0.046273094|63.82%,DHX32|0.022278937|73.05%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 88458996 195.73 TT... TT... PASS 0/1 10 None None None None None None None None None LDB3|0.330839914|25.44%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 43280055 30.47 TTCT TT PASS 0/1 23 None None None None None None None None None BMS1|0.150591768|42.91%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 104230930 2663.73 TT... TTC PASS 1/1 49 None None None None None None None None None TMEM180|0.184381022|38.41%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 98901438 680.73 TG... TG... PASS 1/1 9 None None None None None None None None None SLIT1|0.322819079|25.97%,ARHGAP19-SLIT1|0.508518585|15.45%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 99219404 1708.73 TGT TT PASS 0/1 81 None None None None None None None None None MMS19|0.323394066|25.93%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 71868601 559.73 TGT TGGT PASS 1/1 15 None None None None None None None None None H2AFY2|0.622928652|11.03%,AIFM2|0.142363482|44.1%

PLXDC2
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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 20105996 1258.73 TG... TG... PASS 0/1 52 None None None None None None None None None PLXDC2|0.401730057|20.65%
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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 102770293 2070.73 TG... TG... PASS 0/1 91 None None None None None None None None None PDZD7|0.166478765|40.77%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 118466659 290.73 TG... TG... PASS 1/1 11 None None None None None None None None None HSPA12A|0.32170374|26.03%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 72288963 68.47 TG... T PASS 0/1 13 None None None None None None None None None PALD1|0.038632473|66.24%

RBM20
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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 112404334 371.73 TG... TG... PASS 0/1 25 None None None None None None None None None RBM20|0.153666147|42.46%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 13489148 55.73 TG... TG... PASS 0/1 13 None None None None None None None None None BEND7|0.19658774|37.1%

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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 3208567 300.31 TG... TG... PASS 1/1 14 None None None 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 117856379 391.74 TG... TG... PASS 1/1 9 None None None None None None None None None GFRA1|0.934619361|2.66%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 51051526 883.73 TG... TGAG PASS 0/1 30 None None None None None None None None None PARG|0.261507783|30.62%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 100250018 217.47 TG... T PASS 0/1 62 None None None None None None None None None HPSE2|0.895466364|3.52%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs369452617
dbSNP Clinvar 		63977010 105.23 TG... T PASS 0/1 5 None None None None None None None None None RTKN2|0.169836183|40.34%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 61122268 2527.73 TG TTAG PASS 1/1 52 None None None None None None None None None FAM13C|0.181731447|38.82%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs370786391
dbSNP Clinvar 		43595850 22.49 TG T PASS 0/1 6 None None None None None None None None None RET|0.976360102|1.58%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 97920099 1083.73 TCT TCCT PASS 1/1 23 None None None None None None None None None None
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 94826081 1512.73 TC... TC... PASS 1/1 31 None None None None None None None None None CYP26C1|0.180777393|38.94%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 135105955 575.9 TC... TC... PASS 3/3 7 None None None None None None None None None TUBGCP2|0.131452902|45.7%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 103904763 2148.73 TC... TC... PASS 1/1 58 None None None None None None None None None PPRC1|0.142943486|44%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 135270837 429.73 TCCCC TCCC PASS 0/1 38 None None None None None None None None None SPRN|0.004340936|86.55%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 135105961 28.53 TCCCC TC... PASS 1/1 7 None None None None None None None None None TUBGCP2|0.131452902|45.7%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 135105979 903.79 TCCCC TC... PASS 0/1 17 None None None None None None None None None TUBGCP2|0.131452902|45.7%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 116075271 2075.73 TCCCC TC... PASS 1/1 39 None None None None None None None None None AFAP1L2|0.092781823|52.66%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 129046174 396.73 TCCC TCC PASS 0/1 19 None None None None None None None None None DOCK1|0.111166012|48.98%

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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 7605077 3670.73 TCC TC PASS 1/1 72 None None None None None None None None None ITIH5|0.026992759|70.89%
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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 61802577 246.75 TCC TCCC PASS 1/1 8 None None None None None None None None None ANK3|0.919303788|3%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 51623956 324.45 TCAG TC... PASS 1/1 98 None None None None None None None None None None
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs6143878
dbSNP Clinvar 		42924560 79.73 TC... T PASS 0/1 15 None None None 0.33846 0.33850 None None None None None None None
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 105815202 212.27 TC... TC... PASS 0/2 12 None None None None None None None None None COL17A1|0.220252717|34.39%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 134997524 2944.73 TC TC... PASS 1/1 64 None None None None None None None None None KNDC1|0.003991691|87.04%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 27702042 268.73 TC TAC PASS 0/1 15 None None None None None None None None None PTCHD3|0.001856639|91.39%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 461647 694.73 TA... TAT PASS 0/1 20 None None None None None None None None None DIP2C|0.162764549|41.18%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 28142294 22.5 TA... TA... PASS 1/1 1 None None None None None None None None None ARMC4|0.02617115|71.23%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 32307534 349.74 TAT TA... PASS 1/1 7 None None None None None None None None None KIF5B|0.527503346|14.67%

RTKN2
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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 63976912 143.0 TA... TA PASS 0/1 4 None None None None None None None None None RTKN2|0.169836183|40.34%
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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 55590942 714.73 TA... TA... PASS 1/1 17 None None None None None None None None None PCDH15|0.362630211|23.23%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 5200739 592.73 TAG TA... PASS 1/1 13 None None None None None None None None None None
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 15650401 176.8 TA... TA... PASS 1/1 6 None None None None None None None None None ITGA8|0.264027504|30.37%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 33093858 530.73 TA... TA... PASS 0/1 31 None None None None None None None None None None
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 50856772 514.73 TA... TA... PASS 1/1 17 None None None None None None None None None CHAT|0.652613184|10%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 105797989 730.73 TA... TA... PASS 1/1 19 None None None None None None None None None COL17A1|0.220252717|34.39%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 100991971 48.58 TA... TG... PASS 2/2 3 None None None None None None None None None HPSE2|0.895466364|3.52%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 55892600 190.73 TA... TA... PASS 0/1 15 None None None None None None None None None PCDH15|0.362630211|23.23%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 64914016 129.73 TAC TAAC PASS 0/1 13 None None None None None None None None None NRBF2|0.163128222|41.12%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 104459079 986.73 TAAC TC PASS 1/1 18 None None None None None None None None None ARL3|0.573752246|12.86%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 28259936 10.84 TA... TA... PASS 0/1 4 None None None None None None None None None ARMC4|0.02617115|71.23%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 3193557 1000.73 TA... TG PASS 0/1 50 None None None None None None None None None PITRM1|0.017462354|75.61%

CYP2C8
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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 96827119 1927.73 TA... TA... PASS 1/1 56 None None None None None None None None None CYP2C8|0.004045398|86.94%
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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 18834797 65.0 TA... TA... PASS 2/2 6 None None None None None None None None None NSUN6|0.06690049|58.17%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 84586960 23.02 TA... TA... PASS 1/1 5 None None None None None None None None None NRG3|0.639477829|10.48%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 26359200 175.73 TAA TAAA PASS 0/1 19 None None None None None None None None None MYO3A|0.317182273|26.3%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 13541724 2400.73 TA TA... PASS 0/1 86 None None None None None None None None None BEND7|0.19658774|37.1%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 32307536 134.53 TA TAA PASS 1/1 7 None None None None None None None None None KIF5B|0.527503346|14.67%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs1240407
dbSNP Clinvar 		88763955 498.77 T C PASS 1/1 18 None None None 0.79293 0.79290 None None None None None None None
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs17297984
dbSNP Clinvar 		131967693 1728.77 T A PASS 1/1 42 None None None 0.28055 0.28060 0.32500 None None None None None None GLRX3|0.117107015|47.93%

ADIRF
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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs4869
dbSNP Clinvar 		88730312 3232.77 T C PASS 1/1 79 None None None 0.52716 0.52720 0.48224 None None None None None None ADIRF|0.020192818|74.07%
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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs2503083
dbSNP Clinvar 		36813180 829.77 T A PASS 0/1 55 None None None 0.51578 0.51580 None None None None None None None

MMRN2
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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs4244973
dbSNP Clinvar 		88717140 968.77 T A PASS 1/1 25 None None None 0.98323 0.98320 0.02876 None None None None None None MMRN2|0.006451232|84.12%
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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs7920259
dbSNP Clinvar 		88659758 288.77 T A PASS 0/1 29 None None None 0.05950 0.05950 0.06866 None None None None None None BMPR1A|0.266176156|30.17%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs570828469
dbSNP Clinvar 		126463387 112.9 T G PASS 1/1 3 None None None 0.00439 0.00439 None None None None None None METTL10|0.036911573|66.82%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs7897256
dbSNP Clinvar 		126395123 3994.77 T C PASS 1/1 95 None None None 0.92572 0.92570 None None None None None None FAM53B|0.046125183|63.87%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs2803558
dbSNP Clinvar 		88428335 1865.77 T C PASS 0/1 76 None None None 0.75220 0.75220 None None None None None None LDB3|0.330839914|25.44%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs2738207
dbSNP Clinvar 		38306079 560.77 T C PASS 1/1 14 None None None 0.89597 0.89600 None None None None None None ZNF33A|0.004191644|86.74%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs7094269
dbSNP Clinvar 		88203208 431.77 T C PASS 1/1 11 None None None 0.95887 0.95890 None None None None None None WAPAL|0.877653517|4.01%

ZNF37A
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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 38403798 219.77 T G PASS 0/1 15 None None None 0.00 1.00 5.22 0.00 0.06104 T None None None None ZNF37A|0.004820848|86.07%

WAPAL
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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs7094132
dbSNP Clinvar 		88203068 1926.77 T C PASS 1/1 49 None None None 0.81390 0.81390 0.10857 None None None None None None WAPAL|0.877653517|4.01%
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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs76966281
dbSNP Clinvar 		38897539 18.59 T C PASS 1/1 2 None None None None None None None None None None

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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs1638630
dbSNP Clinvar 		27687775 2351.77 T C PASS 1/1 60 None None None 0.97504 0.97500 0.03960 1.00 0.00 -2.35 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs11202000
dbSNP Clinvar 		88126056 1242.77 T G PASS 1/1 32 None None None 0.96166 0.96170 0.02781 None None None None None None GRID1|0.568665369|13.06%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs2607863
dbSNP Clinvar 		88024443 1887.77 T C PASS 1/1 43 None None None 0.98722 0.98720 0.03880 None None None None None None GRID1|0.568665369|13.06%

CCSER2
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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs11557865
dbSNP Clinvar 		86273249 307.77 T C PASS 0/1 16 None None None 0.21645 0.21650 0.18807 1.00 0.00 0.74 None None None None None None CCSER2|0.215843444|34.91%
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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs1336202
dbSNP Clinvar 		86185654 429.77 T G PASS 1/1 11 None None None 1.00000 1.00000 None None None None None None CCSER2|0.215843444|34.91%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs192540872
dbSNP Clinvar 		126517796 204.77 T A PASS 0/1 29 None None None 0.00499 0.00499 None None None None None None FAM175B|0.196741335|37.08%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs9422807
dbSNP Clinvar 		126093991 1461.77 T C PASS 1/1 38 None None None 0.86582 0.86580 0.19130 None None None None None None OAT|0.248692734|31.64%

LRIT2
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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs6585847
dbSNP Clinvar 		85981801 1179.77 T G PASS 0/1 84 None None None 0.55511 0.55510 0.44592 1.00 0.00 -0.58 None None None None None None LRIT2|0.011816633|79.37%

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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs2429485
dbSNP Clinvar 		27688109 943.77 T C PASS 1/1 28 None None None 0.55012 0.55010 0.36868 0.08 0.02 -1.21 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs4562752
dbSNP Clinvar 		85978809 198.77 T G PASS 0/1 18 None None None 0.55511 0.55510 None None None None None None CDHR1|0.082182972|54.74%

CDHR1
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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs3814213
dbSNP Clinvar 		85974236 1350.77 T C PASS 0/1 74 None None None 0.57368 0.57370 0.39513 None None None None None None CDHR1|0.082182972|54.74%
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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs4633382
dbSNP Clinvar 		38939435 66.77 T C PASS 0/1 6 None None None None None None None None None None
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs11200924
dbSNP Clinvar 		85971124 52.77 T C PASS 0/1 9 None None None 0.12660 0.12660 None None None None None None CDHR1|0.082182972|54.74%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs7073076
dbSNP Clinvar 		85962650 686.77 T G PASS 0/1 45 None None None 0.54812 0.54810 None None None None None None CDHR1|0.082182972|54.74%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs11200917
dbSNP Clinvar 		85958739 1143.77 T C PASS 0/1 64 None None None 0.18930 0.18930 0.16107 None None None None None None CDHR1|0.082182972|54.74%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs35568118
dbSNP Clinvar 		85944322 277.73 T A PASS 0/1 22 None None None 0.24241 0.24240 None None None None None None C10orf99|0.001492515|92.8%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs4348833
dbSNP Clinvar 		85936160 886.77 T C PASS 0/1 63 None None None 0.16454 0.16450 None None None None None None C10orf99|0.001492515|92.8%

AL359195.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs2573326
dbSNP Clinvar 		82013146 491.77 T C PASS 0/1 37 None None None 0.59844 0.59840 1.00 0.00 None None None None None None None
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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs7921235
dbSNP Clinvar 		42681235 3744.77 T C PASS 0/1 192 None None None None None None None None None None
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs7921256
dbSNP Clinvar 		42681283 1241.77 T C PASS 0/1 96 None None None 0.00020 0.00020 None None None None None None None
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs7921369
dbSNP Clinvar 		42681309 488.77 T C PASS 0/1 58 None None None None None None None None None None
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs2236558
dbSNP Clinvar 		81923205 927.77 T G PASS 0/1 54 None None None 0.34764 0.34760 0.35914 None None None None None None ANXA11|0.080075284|55.15%