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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

Export to: CSV

B3GNT8

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 rs284661
dbSNP
41932120 616.77 C T PASS 0/1 55 SYNONYMOUS_CODING LOW SILENT 0.49082 0.49080 0.44949 None None None None None None None
View hp37_1_filt_10x 19 rs284660
dbSNP
41932084 457.77 G T PASS 0/1 44 SYNONYMOUS_CODING LOW SILENT 0.49101 0.49100 0.44879 None None None None None None None
View hp37_1_filt_10x 19 rs284662
dbSNP
41932275 137.77 T C PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62181 0.62180 0.31362 0.89 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs284663
dbSNP
41932612 190.77 C T PASS 0/1 17 SYNONYMOUS_CODING LOW SILENT 0.61741 0.61740 0.31906 None None None None None None None

B9D2

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 rs2241714
dbSNP
41869392 231.77 T C PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.64956 0.64960 0.27549 0.15 0.01 None None None None None None None

BCAM

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 rs3745159
dbSNP
45315539 436.77 G A PASS 0/1 58 SYNONYMOUS_CODING LOW SILENT 0.05471 0.05471 0.02077 None None None None None None None

BCAT2

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 rs557106
dbSNP
49299533 126.77 A G PASS 0/1 16 SYNONYMOUS_CODING LOW SILENT 0.68690 0.68690 None None None None None None None

BCKDHA

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 rs284652
dbSNP
41928652 228.77 C T PASS 0/1 26 SYNONYMOUS_CODING LOW SILENT 0.61641 0.61640 0.32393 None None None None None None None
View hp37_1_filt_10x 19 rs17173144
dbSNP
41903747 131.77 C T PASS 0/1 16 None None None 0.00439 0.00439 0.00031 None None None None None None None
View hp37_1_filt_10x 19 rs3217385,rs398101222
dbSNP
41928867 176.73 G GC PASS 0/1 20 None None None 0.00060 0.61660 0.32630 None None None None None None None
View hp37_1_filt_10x 19 rs4674
dbSNP
41930396 462.77 A G PASS 0/1 73 SYNONYMOUS_CODING LOW SILENT 0.61701 0.61700 0.32301 None None None None None None None

BIRC8

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 rs2865248
dbSNP
53793574 384.77 A G PASS 0/1 42 SYNONYMOUS_CODING LOW SILENT 0.60244 0.60240 0.36007 None None None None None None None
View hp37_1_filt_10x 19 rs8109165
dbSNP
53793042 755.77 G A PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.56230 0.56230 0.40389 0.01 0.01 None None None None None None None

BLVRB

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 rs1061197
dbSNP
40964312 226.77 G A PASS 0/1 15 PROTEIN_INTERACTION_LOCUS HIGH 0.10723 0.10720 0.11854 None None None None None None None

BRD4

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 rs11669901
dbSNP
15350594 283.77 G A PASS 0/1 40 SYNONYMOUS_CODING LOW SILENT 0.13199 0.13200 0.16131 None None None None None None None

BSG

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 rs4682
dbSNP
580665 358.77 T C PASS 0/1 40 SYNONYMOUS_CODING LOW SILENT 0.32648 0.32650 0.24104 None None None None None None None

BTBD2

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 rs561543725
dbSNP
1986916 233.77 G A PASS 0/1 26 SYNONYMOUS_CODING LOW SILENT 0.00040 0.00040 None None None None None None None

C19orf12

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 rs10424582
dbSNP
30193721 473.77 G A PASS 0/1 36 SYNONYMOUS_CODING LOW SILENT 0.61382 0.61380 0.24796 None None None None None None None
View hp37_1_filt_10x 19 rs749962129
dbSNP
30193733 211.77 G A PASS 0/1 36 SYNONYMOUS_CODING LOW SILENT None None None None None None None

C19orf24

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 rs757292
dbSNP
1277275 134.77 G C PASS 0/1 26 SYNONYMOUS_CODING LOW SILENT 0.85064 0.85060 0.20718 None None None None None None None

C19orf26

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 rs8110590
dbSNP
1231142 181.77 T C PASS 0/1 16 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.65136 0.65140 0.47931 0.14 0.09 None None None None None None None

C19orf33

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 rs139805446
dbSNP
38795546 733.73 TGAA T PASS 0/1 23 CODON_DELETION MODERATE 0.15395 0.15400 0.13221 None None None None None None None

C19orf35

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 rs73518414
dbSNP
2278755 117.77 C T PASS 0/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35663 0.35660 0.18193 0.24 0.00 None None None None None None None

C19orf40

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 rs2304102
dbSNP
33467357 245.8 G A PASS 1/1 12 SYNONYMOUS_CODING LOW SILENT 0.42392 0.42390 0.37821 None None None None None None None

C19orf44

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 rs728117
dbSNP
16612011 367.77 T C PASS 0/1 39 SYNONYMOUS_CODING LOW SILENT 0.36641 0.36640 0.41058 None None None None None None None
View hp37_1_filt_10x 19 rs728116
dbSNP
16611978 307.77 T C PASS 0/1 31 SYNONYMOUS_CODING LOW SILENT 0.36542 0.36540 0.40950 None None None None None None None

C19orf54

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 rs3745213
dbSNP
41248009 470.77 C T PASS 0/1 48 None None None 0.09704 0.09704 0.06 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs2254343
dbSNP
41255500 195.9 C G PASS 1/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.75679 0.75680 1.00 0.00 None None None None None None None

C19orf55

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 rs73592448
dbSNP
36258721 448.77 C T PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08886 0.08886 0.08345 0.06 0.05 None None None None None None None
View hp37_1_filt_10x 19 rs231217
dbSNP
36258842 127.77 G C PASS 0/1 16 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10184 0.10180 0.10356 0.10 0.21 None None None None None None None

C19orf57

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 rs2305775
dbSNP
14000870 523.77 C T PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38239 0.38240 0.35068 0.22 0.99 None None None None None None None
View hp37_1_filt_10x 19 rs3803892
dbSNP
14000170 182.77 T C PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39078 0.39080 0.36360 0.23 0.02 None None None None None None None
View hp37_1_filt_10x 19 rs3803891
dbSNP
14000400 213.77 A G PASS 0/1 36 SYNONYMOUS_CODING LOW SILENT 0.39177 0.39180 0.36237 None None None None None None None

C19orf66

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 rs750889944
dbSNP
10197664 302.77 G A PASS 0/1 30 SYNONYMOUS_CODING LOW SILENT None None None None None None None

C19orf68

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 rs12973411
dbSNP
48697961 432.77 C T PASS 0/1 28 SYNONYMOUS_CODING LOW SILENT 0.44669 0.44670 None None None None None None None

C19orf73

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 rs2232003
dbSNP
49621964 230.77 T C PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.69848 0.69850 0.22000 1.00 0.00 None None None None None None None

C19orf81

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 rs4801844
dbSNP
51159571 473.77 T G PASS 1/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85663 0.85660 1.00 0.00 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 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
View hp37_1_filt_10x 19 rs17030
dbSNP
6677989 762.77 G A PASS 1/1 36 SYNONYMOUS_CODING LOW SILENT 0.53295 0.53290 0.48962 None None None None None None None
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

C5AR1

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 rs4804049
dbSNP
47823484 1059.77 T C PASS 1/1 42 SYNONYMOUS_CODING LOW SILENT 0.98802 0.98800 0.01161 None None None None None None None
View hp37_1_filt_10x 19 rs4467185
dbSNP
47823038 1052.77 G A PASS 1/1 46 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.96945 0.96940 0.03260 0.24 0.50 None None None None None None None
View hp37_1_filt_10x 19 rs11880097
dbSNP
47823871 878.77 G T PASS 1/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96945 0.96940 0.03245 0.50 0.17 None None None None None None None

CACNA1A

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 rs2248069
dbSNP
13445208 79.77 C T PASS 0/1 11 SYNONYMOUS_CODING LOW SILENT 0.64117 0.64120 0.35631 None None None None None None None
View hp37_1_filt_10x 19 rs16030
dbSNP
13387904 131.77 A G PASS 0/1 17 SYNONYMOUS_CODING LOW SILENT 0.16673 0.16670 0.17552 None None None None None None None

CACTIN

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 rs527955450
dbSNP
3610991 239.77 G A PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00260 0.00260 0.00 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs368393085
dbSNP
3611021 230.77 G A PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01677 0.01677 0.08 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs7255692
dbSNP
3614403 736.77 T C PASS 1/1 27 SYNONYMOUS_CODING LOW SILENT 0.98582 0.98580 0.03190 None None None None None None None

CALR3

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 rs3810198
dbSNP
16601194 1115.77 C T PASS 1/1 45 SYNONYMOUS_CODING LOW SILENT 0.65895 0.65890 0.33200 None None None None None None None
View hp37_1_filt_10x 19 rs9305079
dbSNP
16591464 633.77 G A PASS 1/1 25 SYNONYMOUS_CODING LOW SILENT 0.65056 0.65060 0.34607 None None None None None None None

CAMSAP3

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 rs62113420
dbSNP
7675369 385.77 C T PASS 0/1 24 SYNONYMOUS_CODING LOW SILENT 0.07408 0.07408 0.11590 None None None None None None None

CAPN12

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 rs4801861
dbSNP
39224413 245.77 A G PASS 0/1 35 SYNONYMOUS_CODING LOW SILENT 0.80112 0.80110 0.18218 None None None None None None None
View hp37_1_filt_10x 19 rs936524
dbSNP
39233146 337.77 A G PASS 0/1 30 SYNONYMOUS_CODING LOW SILENT 0.67113 0.67110 0.32277 None None None None None None None

CAPS

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 rs74174355
dbSNP
5915151 414.77 C T PASS 0/1 44 SYNONYMOUS_CODING LOW SILENT 0.04972 0.04972 0.08506 None None None None None None None

CARD8

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 rs2288876
dbSNP
48737764 1250.77 A G PASS 1/1 52 SYNONYMOUS_CODING LOW SILENT 0.26937 0.26940 0.29002 None None None None None None None
View hp37_1_filt_10x 19 rs140826611,rs146319637
dbSNP
48735017 388.73 C CTT PASS 0/1 31 FRAME_SHIFT HIGH 0.04213 0.04213 0.04266 None None None None None None None
View hp37_1_filt_10x 19 rs3745718
dbSNP
48715153 886.77 T C PASS 1/1 33 SYNONYMOUS_CODING LOW SILENT 0.38898 0.38900 0.46040 None None None None None None None
View hp37_1_filt_10x 19 rs10500299
dbSNP
48722180 672.77 C T PASS 1/1 27 SYNONYMOUS_CODING LOW SILENT 0.25959 0.25960 0.25750 None None None None None None None

CATSPERG

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 rs2286475
dbSNP
38847431 257.77 T C PASS 0/1 30 SYNONYMOUS_CODING LOW SILENT 0.32907 0.32910 0.21590 1.90 None None None None None None None
View hp37_1_filt_10x 19 rs2302182
dbSNP
38827960 459.77 T C PASS 0/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14996 0.15000 0.12878 0.06 0.88 None None None None None None None

CC2D1A

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 rs772349420
dbSNP
14037675 381.77 A C PASS 0/1 26 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View hp37_1_filt_10x 19 rs10410239
dbSNP
14030689 248.77 T C PASS 0/1 18 SYNONYMOUS_CODING LOW SILENT 0.42133 0.42130 0.36848 None None None None None None None
View hp37_1_filt_10x 19 rs11669628
dbSNP
14040896 66.77 G A PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13319 0.13320 0.09594 0.62 0.00 None None None None None None None

CCDC105

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 rs8111625
dbSNP
15133762 1354.77 G C PASS 1/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85982 0.85980 0.14388 0.94 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs10424547
dbSNP
15133787 598.77 C A PASS 0/1 62 SYNONYMOUS_CODING LOW SILENT 0.32149 0.32150 0.21332 None None None None None None None

CCDC124

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 rs4808722
dbSNP
18047283 264.77 T G PASS 0/1 24 SYNONYMOUS_CODING LOW SILENT 0.36761 0.36760 0.44171 None None None None None None None

CCDC155

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 rs7256629
dbSNP
49894152 383.77 C T PASS 1/1 20 SYNONYMOUS_CODING LOW SILENT 0.50779 0.50780 0.49074 None None None None None None None
View hp37_1_filt_10x 19 rs10421748
dbSNP
49901318 410.77 T C PASS 1/1 15 SYNONYMOUS_CODING LOW SILENT 0.57189 0.57190 0.42983 None None None None None None None

CCDC61

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 rs892217
dbSNP
46498353 62.77 C G PASS 0/1 18 SYNONYMOUS_CODING LOW SILENT 0.41454 0.41450 0.46294 None None None None None None None
View hp37_1_filt_10x 19 rs2287306
dbSNP
46520026 237.77 A G PASS 0/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.75939 0.75940 0.21179 1.00 0.00 None None None None None None None

CCDC9

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 rs60930438
dbSNP
47774572 140.77 C T PASS 0/1 14 SYNONYMOUS_CODING LOW SILENT 0.51238 0.51240 0.39642 None None None None None None None
View hp37_1_filt_10x 19 rs10413121
dbSNP
47770015 692.77 A C PASS 0/1 63 SYNONYMOUS_CODING LOW SILENT 0.51198 0.51200 0.39317 None None None None None None None
View hp37_1_filt_10x 19 rs2032811
dbSNP
47768128 97.77 G C PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63818 0.63820 0.45057 0.09 0.00 None None None None None None None

CCDC94

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 rs1045750
dbSNP
4251069 416.77 T C PASS 1/1 17 SYNONYMOUS_CODING LOW SILENT 0.47624 0.47620 0.41473 None None None None None None None
View hp37_1_filt_10x 19 rs11085068
dbSNP
4254375 239.8 C T PASS 1/1 10 SYNONYMOUS_CODING LOW SILENT 0.41773 0.41770 0.35707 None None None None None None None

CCDC97

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 rs201218332
dbSNP
41822447 394.77 G A PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 0.00020 0.00008 0.25 0.56 None None None None None None None

CCL25

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 rs2303165
dbSNP
8122767 783.77 T C PASS 0/1 70 SYNONYMOUS_CODING LOW SILENT 0.93470 0.93470 0.05414 None None None None None None None
View hp37_1_filt_10x 19 rs2303164
dbSNP
8122737 689.77 G A PASS 0/1 70 SYNONYMOUS_CODING LOW SILENT 0.64657 0.64660 0.37508 None None None None None None None

CD177

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 rs12981714
dbSNP
43860192 68.28 T G PASS 1/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96126 0.96130 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs12981771
dbSNP
43860255 73.28 T G PASS 1/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.92093 0.92090 0.38 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs12980412
dbSNP
43860251 105.03 G A PASS 1/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.92312 0.92310 1.00 0.00 None None None None None None None

CD320

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 rs146190802
dbSNP
8367424 381.77 G A PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03814 0.03814 0.00031 0.23 0.01 None None None None None None None

CD33

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 rs367689451
dbSNP
51739082 148.77 G A PASS 0/1 18 None None None 0.00040 0.00040 0.00 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs2455069
dbSNP
51728641 346.77 A G PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33506 0.33510 0.45425 0.42 0.01 None None None None None None None

CD37

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 rs354021
dbSNP
49839015 431.77 T C PASS 0/1 28 SYNONYMOUS_CODING LOW SILENT 0.00040 0.00040 0.18568 None None None None None None None

CD3EAP

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 rs735482
dbSNP
45912002 442.77 A C PASS 1/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.28674 0.28670 0.18092 0.53 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs2336219
dbSNP
45912406 254.78 G A PASS 1/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.28255 0.28250 0.17317 1.00 0.00 None None None None None None None

CD97

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 rs2230748
dbSNP
14512489 140.77 G A PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00060 0.21650 0.11587 1.00 0.00 None None None None None None None

CDC34

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 rs6507
dbSNP
532066 518.77 C T PASS 0/1 50 SYNONYMOUS_CODING LOW SILENT 0.10304 0.10300 0.07099 None None None None None None None

CDKN2D

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 rs1968445
dbSNP
10679240 299.78 C G PASS 1/1 13 SYNONYMOUS_CODING LOW SILENT 0.97244 0.97240 0.03464 None None None None None None None

CEACAM1

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 rs11666350
dbSNP
43013363 391.77 A G PASS 0/1 50 SYNONYMOUS_CODING LOW SILENT 0.15755 0.15750 0.09842 None None None None None None None

CEACAM16

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 rs146757817
dbSNP
45213778 457.77 A G PASS 0/1 43 SYNONYMOUS_STOP LOW SILENT 0.00919 0.00919 0.01319 None None None None None None None
View hp37_1_filt_10x 19 rs894189
dbSNP
45206695 158.77 G A PASS 0/1 23 SYNONYMOUS_CODING LOW SILENT 0.13638 0.13640 0.10991 None None None None None None None

CEACAM18

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 rs8106673
dbSNP
51984725 694.77 T A PASS 1/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.88718 0.88720 0.17375 1.00 0.00 None None None None None None None

CEACAM21

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 rs7247842
dbSNP
42083673 58.77 T C PASS 0/1 18 SYNONYMOUS_CODING LOW SILENT 0.23043 0.23040 0.12800 None None None None None None None
View hp37_1_filt_10x 19 rs3030812
dbSNP
42083739 445.73 A AGAC PASS 0/1 24 CODON_INSERTION MODERATE 0.12580 0.12580 0.03017 None None None None None None None
View hp37_1_filt_10x 19 rs78133615
dbSNP
42083820 335.77 C G PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00719 0.12260 0.02494 0.14 0.72 None None None None None None None
View hp37_1_filt_10x 19 rs714106
dbSNP
42083849 191.77 C A PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.52356 0.52360 0.43914 0.01 0.93 None None None None None None None
View hp37_1_filt_10x 19 rs2302188
dbSNP
42085873 81.77 A G PASS 0/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60104 0.60100 0.34970 0.04 0.00 None None None None None None None

CEACAM3

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 rs3752172
dbSNP
42312933 159.77 G A PASS 0/1 23 SYNONYMOUS_CODING LOW SILENT 0.18930 0.18930 0.15608 None None None None None None None