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Genes:
A1BG, ABCA7, ABHD17A, ABHD8, AC006486.1, AC012313.1, AC018755.1, AC020907.1, AC020922.1, AC074212.3, ACSBG2, ACTL9, ACTN4, ADAMTS10, ADCK4, ADM5, AES, AKAP8L, ALDH16A1, AMH, ANGPTL4, ANKLE1, ANKRD24, ANKRD27, ANO8, AP1M1, AP1M2, AP3D1, APBA3, APOC4, ARHGAP33, ARHGEF1, ARHGEF18, ARID3A, ARRDC2, ASF1B, ATP1A3, ATP4A, ATP5SL, ATP8B3, AXL, B3GNT3, B3GNT8, B9D2, BCAM, BCAT2, BCKDHA, BIRC8, BLVRB, BRD4, BSG, BTBD2, C19orf12, C19orf24, C19orf26, C19orf33, C19orf35, C19orf40, C19orf44, C19orf54, C19orf55, C19orf57, C19orf66, C19orf68, C19orf73, C19orf81, C3, C5AR1, CACNA1A, CACTIN, CALR3, CAMSAP3, CAPN12, CAPS, CARD8, CATSPERG, CC2D1A, CCDC105, CCDC124, CCDC155, CCDC61, CCDC9, CCDC94, CCDC97, CCL25, CD177, CD320, CD33, CD37, CD3EAP, CD97, CDC34, CDKN2D, CEACAM1, CEACAM16, CEACAM18, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM8, CELF5, CEP89, CHAF1A, CHERP, CIB3, CIC, CIRBP, CKM, CLASRP, CLC, CLDND2, CLEC11A, CLEC4M, CLPTM1, CNN2, CNOT3, COL5A3, COLGALT1, COPE, CPAMD8, CRB3, CRTC1, CTB-102L5.4, CTD-3193O13.9, CYP2A6, CYP2A7, CYP2B6, CYP2S1, CYP4F11, CYP4F12, CYP4F2, CYP4F3, DAND5, DCAF15, DEDD2, DENND1C, DHDH, DKKL1, DLL3, DMKN, DMRTC2, DMWD, DNM2, DNMT1, DOCK6, DOT1L, DPF1, DPY19L3, DUS3L, EBI3, ECH1, EEF2, EHD2, EID2B, EIF3G, ELAVL1, ELSPBP1, EMC10, EML2, EMR1, EMR2, EMR3, ERCC1, ERCC2, ERVV-1, ERVV-2, ETFB, ETV2, EVI5L, EXOSC5, FAM129C, FAM187B, FAM71E2, FAM83E, FBN3, FCAR, FCGBP, FCGRT, FCHO1, FFAR1, FFAR2, FFAR3, FGF22, FPR1, FUT2, FUT3, FUT5, FUT6, FXYD3, FXYD5, GALP, GFY, GIPC1, GLTSCR1, GLTSCR2, GNA15, GP6, GPATCH1, GPR108, GPR32, GPR42, GPX4, GRAMD1A, GRIN3B, GRWD1, GSK3A, GTPBP3, GZMM, HAS1, HAUS8, HCN2, HDGFRP2, HIF3A, HKR1, HMHA1, HNRNPM, HNRNPUL1, HOMER3, HOOK2, HRC, HSD17B14, HSH2D, HSPBP1, ICAM1, ICAM3, ICAM5, IFI30, IGFL2, IGFLR1, IGSF23, IL11, IL12RB1, IL4I1, ILF3, ILVBL, INSL3, ISYNA1, KANK2, KCNA7, KCNK6, KDM4B, KHSRP, KIAA1683, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KIR3DX1, KIRREL2, KLF1, KLHL26, KLK1, KLK12, KLK14, KLK2, KLK3, KLK4, KLK5, KLK7, KMT2B, KRI1, LAIR2, LDLR, LENG8, LENG9, LGALS14, LGALS16, LGI4, LILRA2, LILRA4, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIN37, LINGO3, LMNB2, LPAR2, LPHN1, LRG1, LRP3, LRRC4B, LRRC8E, LSR, LTBP4, LYPD5, MADCAM1, MAG, MAN2B1, MAP1S, MAP2K2, MAP3K10, MARCH2, MAST1, MAST3, MAU2, MBD3L1, MBOAT7, MED16, MEGF8, MOB3A, MPV17L2, MUC16, MVB12A, MYBPC2, MYH14, MYO9B, MYPOP, MZF1, NACC1, NANOS3, NAPSA, NCLN, NDUFA11, NKPD1, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, NMRK2, NOSIP, NOTCH3, NOVA2, NPHS1, NR1H2, NRTN, NTF4, NTN5, NUCB1, NUDT19, NUMBL, NUP62, NWD1, OCEL1, ODF3L2, OPA3, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, OR1M1, OR2Z1, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, OR7D4, OR7E24, OR7G1, OR7G2, OR7G3, OSCAR, PAK4, PAPL, PCP2, PCSK4, PDE4A, PDE4C, PEG3, PEX11G, PGLS, PIAS4, PIH1D1, PIK3R2, PINLYP, PIP5K1C, PKN1, PLA2G4C, PLAUR, PLEKHA4, PLEKHG2, PLIN3, PLIN4, PLK5, PNMAL1, POLR2E, POLRMT, PPAN-P2RY11, PPAP2C, PPM1N, PPP1R15A, PPP1R37, PPP5D1, PRAM1, PRKCG, PRKCSH, PRKD2, PRR12, PRRG2, PRSS57, PRX, PSG1, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSMD8, PSPN, PTGER1, PTPRH, PTPRS, PVR, PVRL2, QPCTL, RAB8A, RANBP3, RCN3, RDH13, RDH8, REXO1, RFPL4A, RFPL4AL1, RFX2, RGL3, RHPN2, RLN3, RNF126, RPS16, RPS9, RRAS, RYR1, S1PR4, S1PR5, SAMD1, SBK2, SBK3, SBNO2, SCAF1, SCN1B, SDHAF1, SELV, SERTAD1, SH2D3A, SHANK1, SHC2, SHD, SIGLEC10, SIGLEC11, SIGLEC12, SIGLEC5, SIGLEC6, SIGLEC9, SIN3B, SIPA1L3, SIRT6, SIX5, SLC1A5, SLC35E1, SLC39A3, SLC44A2, SMARCA4, SPHK2, SPTBN4, SRRM5, SSBP4, SSC5D, STXBP2, SUGP2, SULT2A1, SUPT5H, SUV420H2, SYNE4, SYT3, TARM1, TBC1D17, TDRD12, TGFB1, THAP8, THEG, TICAM1, TIMM13, TIMM50, TJP3, TLE6, TMC4, TMEM143, TMEM150B, TMEM221, TMEM259, TMEM59L, TMEM86B, TMEM91, TMIGD2, TMPRSS9, TNFSF14, TNNT1, TPGS1, TRIP10, TSEN34, TSHZ3, TSKS, TTYH1, TUBB4A, TYK2, U2AF1L4, U2AF2, UBA2, UBE2M, UBXN6, UNC13A, UPF1, UPK1A, URI1, USE1, USF2, USHBP1, USP29, VN1R1, VSIG10L, VSTM1, WDR18, WDR62, WDR87, WDR88, WIZ, WTIP, XAB2, XRCC1, YIF1B, ZBTB32, ZBTB45, ZFP28, ZFP82, ZFR2, ZGLP1, ZIM2, ZIM3, ZNF100, ZNF112, ZNF132, ZNF135, ZNF146, ZNF154, ZNF155, ZNF160, ZNF17, ZNF175, ZNF177, ZNF181, ZNF208, ZNF211, ZNF221, ZNF222, ZNF223, ZNF224, ZNF225, ZNF227, ZNF229, ZNF233, ZNF235, ZNF256, ZNF260, ZNF264, ZNF266, ZNF28, ZNF283, ZNF284, ZNF285, ZNF30, ZNF302, ZNF304, ZNF320, ZNF324, ZNF331, ZNF333, ZNF347, ZNF350, ZNF382, ZNF404, ZNF415, ZNF417, ZNF419, ZNF429, ZNF431, ZNF432, ZNF440, ZNF441, ZNF443, ZNF45, ZNF460, ZNF468, ZNF470, ZNF471, ZNF480, ZNF490, ZNF497, ZNF507, ZNF524, ZNF525, ZNF527, ZNF529, ZNF530, ZNF534, ZNF540, ZNF543, ZNF548, ZNF549, ZNF550, ZNF552, ZNF554, ZNF555, ZNF557, ZNF559, ZNF563, ZNF565, ZNF566, ZNF567, ZNF568, ZNF57, ZNF571, ZNF573, ZNF574, ZNF577, ZNF578, ZNF579, ZNF582, ZNF583, ZNF584, ZNF585A, ZNF585B, ZNF586, ZNF587, ZNF587B, ZNF600, ZNF607, ZNF610, ZNF611, ZNF613, ZNF614, ZNF615, ZNF616, ZNF625, ZNF626, ZNF628, ZNF649, ZNF665, ZNF667, ZNF675, ZNF676, ZNF677, ZNF681, ZNF701, ZNF708, ZNF709, ZNF714, ZNF724P, ZNF726, ZNF728, ZNF729, ZNF730, ZNF737, ZNF749, ZNF765, ZNF77, ZNF772, ZNF773, ZNF780A, ZNF780B, ZNF788, ZNF790, ZNF792, ZNF793, ZNF805, ZNF808, ZNF813, ZNF814, ZNF816, ZNF83, ZNF835, ZNF836, ZNF837, ZNF841, ZNF845, ZNF850, ZNF878, ZNF880, ZNF91, ZNF98, ZNF99, ZNRF4, ZSCAN1, ZSCAN18, ZSCAN5A, ZSCAN5B, ZSCAN5C, ZSCAN5D,

Genes at Omim

ABCA7, ACTN4, ADAMTS10, ADCK4, AMH, ANGPTL4, AP3D1, ATP1A3, B9D2, BCAT2, BCKDHA, BSG, C19orf12, C3, CACNA1A, CALR3, CC2D1A, CD320, CEACAM16, CLEC4M, CRTC1, CYP2A6, CYP2B6, DLL3, DNM2, DNMT1, DOCK6, EEF2, ERCC1, ERCC2, ETFB, FUT2, FUT3, FUT6, GP6, GPX4, GTPBP3, ICAM1, IL12RB1, INSL3, KANK2, KIR3DL1, KLF1, KLK1, KLK4, LDLR, LMNB2, LTBP4, MAG, MAN2B1, MAP2K2, MEGF8, MYH14, MYO9B, NDUFA11, NLRP12, NOTCH3, NPHS1, NTF4, NUP62, OPA3, PIK3R2, PIP5K1C, PLEKHG2, PRKCG, PRKCSH, PRX, RYR1, SCN1B, SDHAF1, SIPA1L3, SIX5, SMARCA4, STXBP2, SYNE4, TGFB1, TICAM1, TLE6, TNNT1, TSEN34, TUBB4A, TYK2, WDR62,
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ACTN4 Glomerulosclerosis, focal segmental, 1, 603278 (3)
ADAMTS10 Weill-Marchesani syndrome 1, recessive, 277600 (3)
ADCK4 Nephrotic syndrome, type 9, 615573 (3)
AMH Persistent Mullerian duct syndrome, type I, 261550 (3)
ANGPTL4 Plasma triglyceride level QTL, low, 615881 (3)
AP3D1 ?Hermansky-Pudlak syndrome 10, 617050 (3)
ATP1A3 Alternating hemiplegia of childhood 2, 614820 (3)
CAPOS syndrome, 601338 (3)
Dystonia-12, 128235 (3)
B9D2 Meckel syndrome 10, 614175 (3)
BCAT2 ?Hypervalinemia or hyperleucine-isoleucinemia (1)
BCKDHA Maple syrup urine disease, type Ia, 248600 (3)
BSG [Blood group, OK], 111380 (3)
C19orf12 ?Spastic paraplegia 43, autosomal recessive, 615043 (3)
Neurodegeneration with brain iron accumulation 4, 614298 (3)
C3 C3 deficiency, 613779 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3)
{Macular degeneration, age-related, 9}, 611378 (3)
CACNA1A Epileptic encephalopathy, early infantile, 42, 617106 (3)
Episodic ataxia, type 2, 108500 (3)
Migraine, familial hemiplegic, 1, 141500 (3)
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)
Spinocerebellar ataxia 6, 183086 (3)
CALR3 ?Cardiomyopathy, hypertrophic, 19, 613875 (3)
CC2D1A Mental retardation, autosomal recessive 3, 608443 (3)
CD320 Methylmalonic aciduria due to transcobalamin receptor defect, 613646 (3)
CEACAM16 Deafness, autosomal dominant 4B, 614614 (3)
CLEC4M SARS infection, protection against (2)
CRTC1 Mucoepidermoid salivary gland carcinoma (3)
CYP2A6 Coumarin resistance, 122700 (3)
{Lung cancer, resistance to}, 211980 (3)
{Nicotine addiction, protection from}, 188890 (3)
CYP2B6 Efavirenz, poor metabolism of, 614546 (3)
{Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3)
DLL3 Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
DNM2 Charcot-Marie-Tooth disease, axonal, type 2M, 606482 (3)
Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3)
Lethal congenital contracture syndrome 5, 615368 (3)
Myopathy, centronuclear, 160150 (3)
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3)
Neuropathy, hereditary sensory, type IE, 614116 (3)
DOCK6 Adams-Oliver syndrome 2, 614219 (3)
EEF2 ?Spinocerebellar ataxia 26, 609306 (3)
ERCC1 Cerebrooculofacioskeletal syndrome 4, 610758 (3)
ERCC2 Cerebrooculofacioskeletal syndrome 2, 610756 (3)
Trichothiodystrophy 1, photosensitive, 601675 (3)
Xeroderma pigmentosum, group D, 278730 (3)
ETFB Glutaric acidemia IIB, 231680 (3)
FUT2 [Bombay phenotype] (3)
{Norwalk virus infection, resistance to} (3)
{Vitamin B12 plasma level QTL1}, 612542 (3)
FUT3 [Blood group, Lewis] (3)
FUT6 Fucosyltransferase 6 deficiency, 613852 (3)
GP6 Bleeding disorder, platelet-type, 11, 614201 (3)
GPX4 Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3)
GTPBP3 Combined oxidative phosphorylation deficiency 23, 616198 (3)
ICAM1 {Malaria, cerebral, susceptibility to}, 611162 (3)
IL12RB1 Immunodeficiency 30, 614891 (3)
INSL3 Cryptorchidism, 219050 (3)
KANK2 Palmoplantar keratoderma and woolly hair, 616099 (3)
KIR3DL1 {AIDS, delayed/rapid progression to}, 609423 (3)
KLF1 Blood group--Lutheran inhibitor, 111150 (3)
Dyserythropoietic anemia, congenital, type IV, 613673 (3)
[Hereditary persistence of fetal hemoglobin], 613566 (3)
KLK1 [Kallikrein, decreased urinary activity of], 615953 (3)
KLK4 Amelogenesis imperfecta, type IIA1, 204700 (3)
LDLR Hypercholesterolemia, familial, 143890 (3)
LDL cholesterol level QTL2, 143890 (3)
LMNB2 ?Epilepsy, progressive myoclonic, 9, 616540 (3)
{Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3)
LTBP4 Cutis laxa, autosomal recessive, type IC, 613177 (3)
MAG Spastic paraplegia 75, autosomal recessive, 616680 (3)
MAN2B1 Mannosidosis, alpha-, types I and II, 248500 (3)
MAP2K2 Cardiofaciocutaneous syndrome 4, 615280 (3)
MEGF8 Carpenter syndrome 2, 614976 (3)
MYH14 ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3)
Deafness, autosomal dominant 4A, 600652 (3)
MYO9B {Celiac disease, susceptibility to, 4}, 609753 (3)
NDUFA11 Mitochondrial complex I deficiency, 252010 (3)
NLRP12 Familial cold autoinflammatory syndrome 2, 611762 (3)
NOTCH3 ?Myofibromatosis, infantile 2, 615293 (3)
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3)
Lateral meningocele syndrome, 130720 (3)
NPHS1 Nephrotic syndrome, type 1, 256300 (3)
NTF4 Glaucoma 1, open angle, 1O, 613100 (3)
NUP62 Striatonigral degeneration, infantile, 271930 (3)
OPA3 3-methylglutaconic aciduria, type III, 258501 (3)
Optic atrophy 3 with cataract, 165300 (3)
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3)
PIP5K1C Lethal congenital contractural syndrome 3, 611369 (3)
PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia, 616763 (3)
PRKCG Spinocerebellar ataxia 14, 605361 (3)
PRKCSH Polycystic liver disease 1, 174050 (3)
PRX Charcot-Marie-Tooth disease, type 4F, 614895 (3)
Dejerine-Sottas disease, 145900 (3)
RYR1 Central core disease, 117000 (3)
King-Denborough syndrome, 145600 (3)
Minicore myopathy with external ophthalmoplegia, 255320 (3)
Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3)
{Malignant hyperthermia susceptibility 1}, 145600 (3)
SCN1B Atrial fibrillation, familial, 13, 615377 (3)
Brugada syndrome 5, 612838 (3)
Cardiac conduction defect, nonspecific, 612838 (3)
Epilepsy, generalized, with febrile seizures plus, type 1, 604233 (3)
SDHAF1 Mitochondrial complex II deficiency, 252011 (3)
SIPA1L3 ?Cataract 45, 616851 (3)
SIX5 Branchiootorenal syndrome 2, 610896 (3)
SMARCA4 Coffin-Siris syndrome 4, 614609 (3)
{Rhabdoid tumor predisposition syndrome 2}, 613325 (3)
STXBP2 Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)
SYNE4 Deafness, autosomal recessive 76, 615540 (3)
TGFB1 Camurati-Engelmann disease, 131300 (3)
{Cystic fibrosis lung disease, modifier of}, 219700 (3)
TICAM1 {Herpes simplex encephalitic, susceptibility to, 6}, 614850 (3)
TLE6 Preimplantation embryonic lethality, 616814 (3)
TNNT1 Nemaline myopathy 5, Amish type, 605355 (3)
TSEN34 ?Pontocerebellar hypoplasia type 2C, 612390 (3)
TUBB4A Dystonia 4, torsion, autosomal dominant, 128101 (3)
Leukodystrophy, hypomyelinating, 6, 612438 (3)
TYK2 Immunodeficiency 35, 611521 (3)
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)

Genes at Clinical Genomics Database

ACTN4, ADAMTS10, ADCK4, AMH, ATP1A3, B9D2, BCAM, BCKDHA, BSG, C3, CACNA1A, CALR3, CC2D1A, CD320, CEACAM16, CYP2A6, CYP2B6, CYP4F2, DLL3, DNM2, DNMT1, DOCK6, ERCC1, ERCC2, ETFB, FUT3, FUT6, GP6, GPX4, GTPBP3, IL12RB1, INSL3, KANK2, KLF1, KLK4, LDLR, LMNB2, LTBP4, MAG, MAN2B1, MAP2K2, MEGF8, MYH14, NDUFA11, NLRP12, NLRP7, NOTCH3, NPHS1, NTF4, NUP62, OPA3, PIK3R2, PIP5K1C, PLEKHG2, PRKCG, PRKCSH, PRX, RYR1, SCN1B, SDHAF1, SIPA1L3, SIX5, SMARCA4, STXBP2, SYNE4, TGFB1, TICAM1, TLE6, TNNT1, TSEN34, TUBB4A, TYK2, WDR62, ZIM2, ZNF480, ZNF565,
ACTN4 Focal segmental glomerulosclerosis 1
ADAMTS10 Weill-Marchesani syndrome 1
ADCK4 Nephrotic syndrome, type 9
AMH Persistent Mullerian duct syndrome, type I
ATP1A3 Alternating hemiplegia of childhood 2
B9D2 Meckel syndrome 10
BCAM Lutheran, null
Blood group, Auberger system
Blood group, Lutheran system
BCKDHA Maple syrup urine disease, type Ia
BSG Blood group, OK
C3 Hemolytic uremic syndrome, atypical, susceptibility to, 5
Complement component 3 deficiency, autosomal recessive
CACNA1A Migraine, familial hemiplegic 1
Episodic ataxia, type 2
CALR3 Cardiomyopathy, familial hypertrophic, 19
CC2D1A Mental retardation, autosomal recessive 3
CD320 Methylmalonic aciduria due to transcobalamin receptor defect
CEACAM16 Deafness, autosomal dominant 4B
CYP2A6 CYP2A6-related drug metabolism
CYP2B6 Efavirenz, poor metabolism of
CYP4F2 Warfarin metabolism
DLL3 Spondylocostal dysostosis 1, autosomal recessive
DNM2 Lethal akinesia and musculoskeletal abnormalities, with brain and retinal hemorrhages, autosomal recessive
Myopathy, centronuclear
Charcot-Marie-Tooth disease, axonal, type 2M
Charcot-Marie-Tooth disease, dominant intermediate B
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
Neuropathy, hereditary sensory, type IE
DOCK6 Adams-Oliver syndrome 2
ERCC1 Cerebrooculofacioskeletal syndrome 4
ERCC2 Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive
ETFB Glutaric aciduria II
Multiple acyl-CoA dehydrogenase deficiency
FUT3 Blood group, Lewis
FUT6 Fucosyltransferase 6 deficiency
GP6 Bleeding disorder, platelet-type, 11
GPX4 Sedaghatian-type spondylometaphyseal dysplasia
GTPBP3 Combined oxidative phosphorylation deficiency 23
IL12RB1 Immunodeficiency 30
INSL3 Cryptorchidism
KANK2 Palmoplantar keratoderma and woolly hair
KLF1 Blood group, Lutheran inhibitor
Anemia, dyserythropoietic congenital, type IV
KLK4 Amelogenesis imperfecta, type IIA1
LDLR Hypercholesterolemia, familial
LMNB2 Epilepsy, progressive myoclonic, 9
Liopdystrophy, partial, acquired
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MAG Spastic paraplegia, autosomal recessive 75
MAN2B1 Mannosidosis, alpha B, lysosomal
MAP2K2 Cardiofaciocutaneous syndrome
MEGF8 Carpenter syndrome 2
MYH14 Peripheral neuropathy, myopathy, hoarseness, and hearing loss
Deafness, autosomal dominant 4B
Deafness, autosomal dominant 4
NDUFA11 Mitochondrial complex I deficiency
NLRP12 Familial cold autoinflammatory syndrome 2
NLRP7 Hydatidiform mole, recurrent, 1
NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL1)
NPHS1 Nephrotic syndrome, type 1
NTF4 Glaucoma 1, open angle, O
NUP62 Striatonigral degeneration, infantile
OPA3 Optic atrophy 3, autosomal dominant
3-methylglutaconic aciduria, type III
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIP5K1C Lethal congenital contractural syndrome 3
PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia
PRKCG Spinocerebellar ataxia 14
PRKCSH Polycystic liver disease
PRX Charcot-Marie-Tooth disease, type 4F
Dejerine-Sottas disease
RYR1 Centronuclear myopathy (individuals with these conditions may also be at risk of malignant hyperthermia)
Minicore myopathy with external ophthalmoplegia
Multicore myopathy
Minicore myopathy
Central core disease
Malignant hyperthermia, susceptibility 1
SCN1B Brugada syndrome 5
Atrial fibrillation, familial 13
SDHAF1 Mitochondrial complex II deficiency
SIPA1L3 Cataract 45
SIX5 Branchiootorenal syndrome 2
SMARCA4 Rhabdoid tumor predisposition syndrome 2
STXBP2 Hemophagocytic lymphohistiocytosis, familial 5
SYNE4 Deafness, autosomal recessive, 76
TGFB1 Camurati-Engelmann disease
TICAM1 Herpes simplex encephalitis, susceptibility to, 4
TLE6 Preimplantation embryonic lethality
TNNT1 Nemaline myopathy 5
TSEN34 Pontocerebellar hypoplasia type 2C
TUBB4A Leukodystrophy, hypomyelinating, 6
Dystonia 4, torsion, autosomal dominant
TYK2 Immunodeficiency 35
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
ZIM2 Schizophrenia
ZNF480 Schizophrenia
ZNF565 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 4873
Number of Genes: 705

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs763293039,rs74177808,rs5828551
dbSNP
54216777 348.73 T TTTTG PASS 0/1 19 None None None None None None None None None None
View hp37_1_filt_10x 19 rs113919850,rs71337417
dbSNP
53998478 238.73 T TTTG PASS 0/1 16 None None None 0.20727 0.20730 None None None None None None None
View hp37_1_filt_10x 19 rs55814821
dbSNP
51331204 427.73 T TTG PASS 1/1 14 None None None None None None None None None None
View hp37_1_filt_10x 19 rs35938241
dbSNP
53993551 1554.73 T TTG PASS 0/1 96 None None None 0.78774 0.78770 None None None None None None None
View hp37_1_filt_10x 19 rs10694633
dbSNP
53651845 1319.73 T TTC PASS 1/1 25 None None None 0.83566 0.83570 None None None None None None None
View hp37_1_filt_10x 19 rs35176838
dbSNP
21712415 1150.73 T TTC PASS 1/1 26 None None None 0.17193 0.17190 None None None None None None None
View hp37_1_filt_10x 19 rs147451440,rs60976219,rs397944375
dbSNP
53122361 1133.73 T TTATC PASS 0/1 31 None None None 0.18271 0.18270 None None None None None None None
View hp37_1_filt_10x 19 rs5828594,rs111643703,rs3050015
dbSNP
55175596 691.73 T TG... PASS 0/1 18 None None None 0.86162 0.86160 None None None None None None None
View hp37_1_filt_10x 19 rs574407296,rs199634785
dbSNP
55342156 672.73 T TGTCA PASS 0/1 24 None None None None None None None None None None
View hp37_1_filt_10x 19 rs113321277,rs386388655
dbSNP
17514646 874.73 T TGGG PASS 1/1 16 None None None 0.87081 0.87080 0.04498 None None None None None None None
View hp37_1_filt_10x 19 rs10692689,rs371181101
dbSNP
3750205 1062.73 T TGG PASS 1/1 25 None None None 0.05751 0.05751 0.52820 None None None None None None None
View hp37_1_filt_10x 19 rs146048336
dbSNP
14091543 1333.74 T TG... PASS 1/1 12 None None None 0.30250 None None None None None None None
View hp37_1_filt_10x 19 rs146099002
dbSNP
50764017 434.73 T TGC PASS 1/1 14 None None None 0.00040 0.69750 None None None None None None None

DHDH

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs3830420,rs397960489
dbSNP
49442849 375.73 T TG PASS 0/1 17 FRAME_SHIFT HIGH 0.25479 0.25480 None None None None None None None

VSIG10L

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs11402251,rs397723022
dbSNP
51835892 502.73 T TG PASS 1/1 12 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.00207 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs141865002
dbSNP
5047442 163.73 T TG PASS 0/1 19 None None None 0.16114 0.16110 0.21668 None None None None None None None

NWD1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs535227776
dbSNP
16855411 650.73 T TG PASS 0/1 30 FRAME_SHIFT HIGH 0.00080 0.00080 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs56405217,rs754156796,rs398079927,rs397788420
dbSNP
50216118 459.73 T TG PASS 1/1 14 None None None 0.00008 None None None None None None None
View hp37_1_filt_10x 19 rs35065977
dbSNP
53952695 615.73 T TCC PASS 0/1 43 None None None 0.07208 0.07208 None None None None None None None
View hp37_1_filt_10x 19 rs749302245
dbSNP
8601122 309.73 T TCAAA PASS 0/1 18 None None None None None None None None None None

ZNF880

Omim - GeneCards - NCBI
Options Individual Chr
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs34678014,rs398071206
dbSNP
52887246 760.73 T TCAA PASS 1/1 15 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE 0.34413 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs554624274
dbSNP
30303714 105.73 T TC PASS 0/1 13 None None None 0.00379 0.61760 None None None None None None None
View hp37_1_filt_10x 19 rs35018208
dbSNP
38935350 383.73 T TC PASS 1/1 13 None None None 0.54293 0.54290 None None None None None None None
View hp37_1_filt_10x 19 rs78390412,rs141954797
dbSNP
23254214 797.74 T TC PASS 0/1 26 None None None None None None None None None None
View hp37_1_filt_10x 19 rs55742289,rs397934129
dbSNP
46192367 877.73 T TC PASS 0/1 53 None None None 0.27616 0.27620 None None None None None None None

OR7C2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs3044711,rs397816267
dbSNP
15052983 3025.73 T TATC PASS 1/1 50 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE 0.99381 0.99380 0.01166 None None None None None None None

ZNF714

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs36125838,rs57999210
dbSNP
21299774 2400.73 T TATA PASS 1/1 41 CODON_INSERTION MODERATE 0.84145 0.84150 0.14029 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs1160969,rs386388464,rs397934652
dbSNP
6935121 1266.73 T TAA PASS 1/1 30 None None None None None None None None None None
View hp37_1_filt_10x 19 rs138465035
dbSNP
46544307 235.73 T TA PASS 0/1 15 None None None 0.00899 0.00899 0.00903 None None None None None None None
View hp37_1_filt_10x 19 rs377754555
dbSNP
55344186 821.73 T TA PASS 0/1 38 None None None None None None None None None None
View hp37_1_filt_10x 19 rs56895666,rs397826545
dbSNP
37721404 103.73 T TA PASS 0/1 24 None None None None None None None None None None
View hp37_1_filt_10x 19 rs375968457,rs202006993
dbSNP
54561493 87.73 T TA PASS 0/1 20 None None None 0.02236 0.26200 None None None None None None None
View hp37_1_filt_10x 19 rs56247515
dbSNP
19215612 575.73 T TA PASS 1/1 14 None None None 0.81629 0.81630 None None None None None None None
View hp37_1_filt_10x 19 rs2015988
dbSNP
17530522 566.77 C T PASS 1/1 21 None None None 0.57189 0.57190 None None None None None None None

ZNF813

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs35712939
dbSNP
53993923 1170.77 C T PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20008 0.20010 0.24115 0.11 0.11 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 . 22034731 30.77 G T PASS 0/1 18 None None None None None None None None None None
View hp37_1_filt_10x 19 rs34324185
dbSNP
12768843 67.77 G T PASS 0/1 13 None None None 0.18191 0.18190 0.28701 None None None None None None None
View hp37_1_filt_10x 19 rs11882213
dbSNP
6471170 71.77 C T PASS 0/1 14 None None None 0.25499 0.25500 None None None None None None None
View hp37_1_filt_10x 19 rs17173219
dbSNP
53989843 182.77 A T PASS 0/1 23 None None None 0.28774 0.28770 0.30235 None None None None None None None

KIR3DL2

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs138402445
dbSNP
55377343 346.77 C T PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.01 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs559005295
dbSNP
12958282 213.77 C T PASS 0/1 21 None None None 0.01218 0.01218 None None None None None None None

KIR3DL2

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 . 55377325 368.77 C T PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22 0.03 None None None None None None None

DENND1C

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs348398
dbSNP
6477256 300.78 G T PASS 1/1 14 SYNONYMOUS_CODING LOW SILENT 0.64457 0.64460 0.26803 -0.92 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs370929199
dbSNP
53958769 41.77 G T PASS 0/1 95 None None None 0.00020 0.00020 0.00008 None None None None None None None
View hp37_1_filt_10x 19 . 10916456 226.77 G T PASS 0/1 20 None None None None None None None None None None

WDR88

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs3848596
dbSNP
33635761 248.77 C T PASS 0/1 26 SYNONYMOUS_CODING LOW SILENT 0.51118 0.51120 0.38536 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs12978754
dbSNP
28247550 1072.77 C T PASS 1/1 49 None None None 0.47764 0.47760 None None None None None None None

ANO8

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs3745191
dbSNP
17439034 255.77 C T PASS 0/1 45 SYNONYMOUS_CODING LOW SILENT 0.10443 0.10440 0.09297 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs2277984
dbSNP
6679511 1110.77 C T PASS 1/1 48 None None None 0.52436 0.52440 0.49616 None None None None None None None
View hp37_1_filt_10x 19 rs143686963
dbSNP
53916793 34.77 A T PASS 0/1 12 None None None 0.01098 0.01098 None None None None None None None
View hp37_1_filt_10x 19 rs1560711
dbSNP
10742287 497.77 C T PASS 1/1 17 None None None 0.79074 0.79070 0.19322 None None None None None None None

ANO8

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs56286266
dbSNP
17435887 230.77 C T PASS 0/1 42 SYNONYMOUS_CODING LOW SILENT 0.24621 0.24620 0.27157 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs8111013
dbSNP
53915309 532.77 A T PASS 1/1 20 None None None 0.77276 0.77280 None None None None None None None
View hp37_1_filt_10x 19 rs143471303
dbSNP
53915224 1020.77 C T PASS 0/1 93 None None None 0.00619 0.00619 None None None None None None None

SLC44A2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs3087969
dbSNP
10738639 215.84 C T PASS 1/1 10 SYNONYMOUS_CODING LOW SILENT 0.78654 0.78650 0.19529 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs3826689
dbSNP
17298893 79.77 G T PASS 0/1 10 None None None 0.63898 0.63900 0.49090 None None None None None None None

C3

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs2230205
dbSNP
6709704 188.77 C T PASS 0/1 28 SYNONYMOUS_CODING LOW SILENT 0.21845 0.21850 0.12502 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs2068630
dbSNP
53914108 1107.77 C T PASS 0/1 93 None None None 0.75719 0.75720 None None None None None None None
View hp37_1_filt_10x 19 rs7249771
dbSNP
53707289 436.77 C T PASS 0/1 32 None None None 0.60523 0.60520 None None None None None None None

MYO9B

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs7256689
dbSNP
17273893 97.77 G T PASS 0/1 17 SYNONYMOUS_CODING LOW SILENT 0.74820 0.74820 0.25821 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs114252882
dbSNP
6712504 582.77 C T PASS 0/1 47 None None None 0.00659 0.00659 0.00323 None None None None None None None

KIR3DL2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 . 55377303 209.77 C T PASS 0/1 56 SYNONYMOUS_CODING LOW SILENT None None None None None None None

C3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs2230201
dbSNP
6713291 216.77 C T PASS 0/1 24 SYNONYMOUS_CODING LOW SILENT 0.22784 0.22780 0.14586 -0.90 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs2291666
dbSNP
6732018 1483.77 C T PASS 1/1 57 None None None 0.51078 0.51080 0.43739 None None None None None None None
View hp37_1_filt_10x 19 . 22034733 30.77 G T PASS 0/1 18 None None None None None None None None None None
View hp37_1_filt_10x 19 rs62126354
dbSNP
55791091 247.77 C T PASS 0/1 24 None None None 0.67213 0.67210 None None None None None None None
View hp37_1_filt_10x 19 rs2359812
dbSNP
22153495 302.78 A T PASS 1/1 15 None None None 0.59964 0.59960 0.37549 None None None None None None None
View hp37_1_filt_10x 19 rs199764566
dbSNP
33490616 84.77 A T PASS 0/1 37 None None None None None None None None None None

HAUS8

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs1130222
dbSNP
17170885 400.77 C T PASS 1/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.47125 0.47120 0.43219 0.02 0.84 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs73590598
dbSNP
36228667 181.77 C T PASS 0/1 26 None None None 0.09904 0.09904 0.08525 None None None None None None None
View hp37_1_filt_10x 19 rs252551
dbSNP
6935113 836.77 C T PASS 1/1 32 None None None 0.66853 0.66850 0.27003 None None None None None None None
View hp37_1_filt_10x 19 rs6630
dbSNP
4090422 584.77 G T PASS 0/1 62 None None None 0.17173 0.17170 None None None None None None None
View hp37_1_filt_10x 19 rs1824791
dbSNP
53887021 2096.77 C T PASS 1/1 74 None None None 0.68051 0.68050 None None None None None None None
View hp37_1_filt_10x 19 rs10426785
dbSNP
35609981 252.8 C T PASS 1/1 10 None None None 0.58726 0.58730 None None None None None None None

GRIN3B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs2240158
dbSNP
1005230 799.77 C T PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.34545 0.34540 0.42688 1.00 0.01 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs466123
dbSNP
6974564 966.77 C T PASS 1/1 40 None None None 0.64137 0.64140 0.37385 None None None None None None None
View hp37_1_filt_10x 19 rs58896082
dbSNP
53885352 779.77 C T PASS 0/1 84 None None None 0.19070 0.19070 None None None None None None None

KIR3DX1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs17606836
dbSNP
55048270 276.77 C T PASS 0/1 38 SYNONYMOUS_CODING LOW SILENT 0.21705 0.21710 0.22654 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 hp37_1_filt_10x 19 rs7255801
dbSNP
6977409 1185.77 C T PASS 1/1 42 None None None 0.58866 0.58870 0.42409 None None None None None None None

ZNF845

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs55874600
dbSNP
53856349 865.77 A T PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20387 0.20390 0.31099 0.19 0.94 None None None None None None None

RNF126

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs61754469
dbSNP
651684 124.77 C T PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00679 0.00679 0.01401 0.08 0.09 3.81 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs8100517
dbSNP
17091533 264.77 C T PASS 0/1 27 None None None 0.48502 0.48500 0.40649 None None None None None None None

DOCK6

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs2304154
dbSNP
11326125 352.77 C T PASS 0/1 39 SYNONYMOUS_CODING LOW SILENT 0.45268 0.45270 0.47227 None None None None None None None
Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs12983706
dbSNP
11473415 120.77 C T PASS 0/1 14 None None None 0.19349 0.19350 0.22293 None None None None None None None
View hp37_1_filt_10x 19 rs3814983
dbSNP
36106337 101.77 C T PASS 0/1 10 None None None 0.35963 0.35960 0.27309 None None None None None None None
View hp37_1_filt_10x 19 rs7258667
dbSNP
50727312 163.78 C T PASS 0/1 10 None None None 0.23882 0.23880 None None None None None None None

ZNF568

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs571294
dbSNP
37441111 973.77 C T PASS 1/1 40 SYNONYMOUS_CODING LOW SILENT 0.58626 0.58630 0.36873 None None None None None None None
Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs4550595
dbSNP
22153808 165.77 C T PASS 0/1 13 None None None 0.28614 0.28610 None None None None None None None

ZNF208

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs2214301
dbSNP
22154954 388.77 C T PASS 1/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57308 0.57310 0.40573 0.71 0.00 None None None None None None None

ARHGEF18

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs2287914
dbSNP
7524846 849.77 C T PASS 1/1 35 SYNONYMOUS_CODING LOW SILENT 0.18730 0.18730 0.20567 None None None None None None None
View hp37_1_filt_10x 19 rs2287915
dbSNP
7524855 794.77 C T PASS 1/1 32 SYNONYMOUS_CODING LOW SILENT 0.22704 0.22700 0.21197 None None None None None None None
Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs55934167
dbSNP
50720793 435.77 C T PASS 0/1 23 None None None 0.22404 0.22400 None None None None None None None
View hp37_1_filt_10x 19 rs10553990,rs757617044,rs34032064,rs66867226
dbSNP
55044228 966.73 TTC T PASS 1/1 24 None None None 0.23673 None None None None None None None

ZNF208

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs12975751
dbSNP
22156482 114.77 G T PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29952 0.29950 0.32654 0.03 0.70 None None None None None None None
Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs11084002
dbSNP
50563266 98.77 C T PASS 0/1 12 None None None 0.19948 0.19950 None None None None None None None
View hp37_1_filt_10x 19 rs796242086
dbSNP
27731954 100.77 C T PASS 0/1 11 None None None None None None None None None None
View hp37_1_filt_10x 19 rs12611180
dbSNP
50563208 190.77 C T PASS 0/1 21 None None None 0.14317 0.14320 None None None None None None None

NLRP4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs395503
dbSNP
56369215 237.77 C T PASS 0/1 37 SYNONYMOUS_CODING LOW SILENT 0.51597 0.51600 0.39097 None None None None None None None
Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs76393467
dbSNP
27738569 165.77 G T PASS 1/1 10 None None None 0.00020 None None None None None None None
View hp37_1_filt_10x 19 rs2287919
dbSNP
7529415 376.77 C T PASS 1/1 18 None None None 0.15515 0.15520 0.17638 None None None None None None None