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Genes:
AADACL3, ACACB, ACADS, ACLY, ACSM2A, ACTR8, ACVR1, ADA, ADAM2, ADCK3, ADCY10, ADH1C, AGO2, ALDH3B1, ALDH4A1, ALG12, ALG9, ALOX15B, ANAPC1, ANKRD30B, ANKUB1, ANPEP, AOAH, APC, APEX1, APOBEC2, APOH, AQP2, AQR, ARHGEF16, ARMS2, ARNT, ARSB, ARSD, ARSH, ART5, ASMTL, B3GAT2, BARD1, BCL6B, BECN1, BPIFA2, BPIFB6, BRD2, BSCL2, C12orf60, C2orf83, C5orf20, C8orf37, CA6, CA8, CASP12, CASR, CBR3, CCDC101, CCDC144NL, CCHCR1, CD180, CD207, CD6, CDC20B, CHI3L1, CHI3L2, CHIA, CIB3, CKAP5, CKB, CLC, CLDN5, CLTCL1, CNTNAP4, COL18A1, COL22A1, COL26A1, COL6A3, COL9A3, COMT, CPB2, CPOX, CREB3L1, CRYBA4, CSF3R, CTD-3193O13.9, CTDNEP1, CTXN1, CYFIP2, CYP11A1, CYP11B2, CYTH3, DAAM1, DAB1, DAO, DBI, DCAF7, DCPS, DDX27, DIXDC1, DLG1, DMBT1, DNAH17, DNAH5, DOCK1, DPEP2, DPP6, DPYSL2, DSP, DTX4, DYX1C1, EBLN2, ECHDC3, EGFR, EI24, EIF2AK3, EIF4H, EIF5B, EMILIN1, EML3, ENPP2, ENPP4, EP300, EPHA2, EPHX2, ERAP1, ERAP2, ERCC6, ERCC6L2, ERN1, ESPL1, EXOSC4, EYS, F11, FAM134A, FAM134B, FAM187B, FAM188B, FAM228B, FAM71C, FAM71E2, FAM96A, FASN, FBRSL1, FBXL21, FBXO42, FCRL3, FDFT1, FES, FGF1, FGFR2, FLT4, FOLH1, FOS, FOSB, FOXD4, FOXO4, GAB4, GABRR3, GALM, GALNS, GBE1, GBP1, GDPD4, GIMAP2, GMPR, GPR113, GPRIN2, GTPBP2, H2BFM, HAAO, HAS1, HBB, HCN1, HGS, HIF1AN, HK2, HK3, HLX, HMGCS1, HNF4G, HOXD12, HRAS, HRG, HSD17B14, HSH2D, HSPA6, HSPA9, HYDIN, IFI16, IGDCC4, IGHMBP2, IL22RA1, IL27RA, IL2RG, ILK, INPP5E, IQSEC3, ITIH5, ITIH6, ITPR2, ITSN2, JMJD1C, KANK4, KAZALD1, KCNK15, KCNMB3, KDM2A, KDM8, KIAA1614, KIFC1, KLHL4, KLRC1, KPNA2, KRAS, KRBA1, KRT24, KRTAP1-5, KRTAP5-6, LAMP3, LCN10, LEPREL2, LGR5, LIG4, LIPE, LMAN1, LRP6, LRRK2, MAN2B2, MAP2K3, MAP3K4, MAP3K8, MAPK12, MAPK8IP2, MAPKAP1, MARCH7, MAT1A, MB21D1, MEFV, MEGF6, MEP1B, METTL8, MICA, MINA, MMP28, MNS1, MOB3C, MROH5, MS4A14, MSMP, MTAP, MTMR2, MUS81, MVK, MYH11, MYH4, MYLK3, MYOM1, NACA2, NBAS, NCAPH2, NCBP1, NCF2, NCOA7, NDST2, NEK2, NET1, NEU2, NFATC2, NFE2L1, NLRC3, NLRP14, NLRP8, NLRX1, NME3, NOP16, NPC1, NPPA, NPRL3, NQO1, NTN5, NUDT11, NUDT18, NUP54, NWD1, OAS2, OASL, OPLAH, OR10H5, OR10X1, OR11G2, OR13A1, OR13C8, OR1B1, OR2L8, OR2M4, OR2T12, OR2T35, OR4C11, OR4C3, OR4K14, OR4L1, OR4P4, OR4X1, OR4X2, OR51I1, OR52D1, OR52E8, OR5A1, OR5AC2, OR5AR1, OR5H15, OR5M1, OR6C1, OR6C74, OR8K1, OR9K2, P2RX5, PADI2, PAX8, PCDH10, PCK1, PDE10A, PDE4B, PDE4DIP, PDE5A, PDXK, PFKP, PGPEP1L, PIK3C2G, PIK3R6, PIR, PKD1L2, PLA2G2C, PLCB3, PLEKHA2, PLXNB1, PNP, PPIC, PPP1R9B, PPP2R2C, PPP5C, PRIM1, PRIM2, PRKAA2, PRKCD, PRKDC, PRSS45, PRSS48, PSAT1, PSMC3, PTCHD3, PTGR2, PTPN6, PVRIG, RAP1GAP2, RAPGEF6, RBBP4, RECQL4, RELA, RIBC2, RIPK1, RMDN2, RMI2, RNASET2, RNF43, RNF8, ROR2, RP11-156E8.1, RPA1, RPS21, RRM1, RRM2B, RSF1, RSRC2, SARM1, SATL1, SBK3, SCAMP1, SCAPER, SCML2, SCRN3, SDSL, SEC14L3, SEC14L4, SENP3, SERPINB2, SETMAR, SGPL1, SHARPIN, SIRT3, SLC12A5, SLC22A10, SLC26A3, SLC39A7, SLC46A1, SLC4A3, SLC5A9, SLC6A18, SND1, SNRNP200, SNRPA1, SON, SORL1, SPECC1L, SPHK1, SRRM3, SSTR3, STK10, STON1, SUCLG2, SULT1C3, SULT2A1, SYK, TAAR9, TAS2R46, TES, TGIF1, TGOLN2, THSD7A, TICRR, TIGD6, TLR10, TMEM120A, TMPRSS11A, TNFAIP6, TNFSF10, TNFSF15, TNFSF9, TNRC6B, TOM1, TP73, TPH2, TPTE, TRAP1, TSGA10IP, TST, TTC4, TWF2, UGGT2, ULK3, UMODL1, UMPS, USP2, USP29, VSIG10L, VWF, WAPAL, WARS, WAS, WDR5, WNK1, WNT1, WWTR1, XDH, XYLB, YLPM1, YWHAG, ZADH2, ZAN, ZBTB6, ZDHHC3, ZNF117, ZNF211, ZNF480, ZNF513, ZNF516, ZNF544, ZNF607, ZNF609, ZNF823, ZNF880,

Genes at Omim

ACADS, ACVR1, ADA, ADCK3, ADCY10, ADH1C, ALDH4A1, ALG12, ALG9, APC, AQP2, ARSB, BARD1, BSCL2, C8orf37, CA8, CASP12, CASR, CD207, CHI3L1, COL18A1, COL6A3, COL9A3, COMT, CPOX, CREB3L1, CRYBA4, CSF3R, CYFIP2, CYP11A1, CYP11B2, DAB1, DCPS, DNAH5, DPP6, DSP, EGFR, EIF2AK3, EP300, EPHA2, EPHX2, ERCC6, ERCC6L2, EYS, F11, FAM134B, FDFT1, FGFR2, FLT4, GALNS, GBE1, GTPBP2, HAAO, HBB, HCN1, HRAS, HRG, HSPA9, HYDIN, IGHMBP2, IL2RG, INPP5E, ITPR2, KRAS, LIG4, LIPE, LMAN1, LRP6, LRRK2, MAP3K8, MAT1A, MEFV, MTAP, MTMR2, MVK, MYH11, NBAS, NCF2, NEK2, NPC1, NPC1, NPPA, NPRL3, NQO1, OPLAH, PAX8, PCK1, PDE10A, PNP, PRKCD, PRKDC, PSAT1, RECQL4, RELA, RIPK1, RNASET2, RNF43, ROR2, RRM2B, SCAPER, SGPL1, SLC12A5, SLC26A3, SLC46A1, SNRNP200, SON, SPECC1L, TGIF1, TPH2, UMPS, VWF, WARS, WAS, WNK1, WNT1, XDH, YWHAG, ZNF513,
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
ACVR1 Fibrodysplasia ossificans progressiva, 135100 (3)
ADA Adenosine deaminase deficiency, partial, 102700 (3)
Severe combined immunodeficiency due to ADA deficiency, 102700 (3)
ADCK3 Coenzyme Q10 deficiency, primary, 4, 612016 (3)
ADCY10 {Hypercalciuria, absorptive, susceptibility to}, 143870 (3)
ADH1C {Parkinson disease, susceptibility to}, 168600 (3)
{Alcohol dependence, protection against}, 103780 (3)
ALDH4A1 Hyperprolinemia, type II, 239510 (3)
ALG12 Congenital disorder of glycosylation, type Ig, 607143 (3)
ALG9 Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
Congenital disorder of glycosylation, type Il, 608776 (3)
APC Adenoma, periampullary, somatic (3)
Adenomatous polyposis coli, 175100 (3)
Gardner syndrome, 175100 (3)
Gastric cancer, somatic, 613659 (3)
Brain tumor-polyposis syndrome 2, 175100 (3)
Hepatoblastoma, somatic, 114550 (3)
Colorectal cancer, somatic, 114500 (3)
Desmoid disease, hereditary, 135290 (3)
AQP2 Diabetes insipidus, nephrogenic, 125800 (3)
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)
BARD1 {Breast cancer, susceptibility to}, 114480 (3)
BSCL2 Lipodystrophy, congenital generalized, type 2, 269700 (3)
Encephalopathy, progressive, with or without lipodystrophy, 615924 (3)
Neuropathy, distal hereditary motor, type VA, 600794 (3)
Silver spastic paraplegia syndrome, 270685 (3)
C8orf37 Bardet-Biedl syndrome 21, 617406 (3)
Cone-rod dystrophy 16, 614500 (3)
Retinitis pigmentosa 64, 614500 (3)
CA8 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 (3)
CASP12 {Sepsis, susceptibility to} (3)
CASR Hyperparathyroidism, neonatal, 239200 (3)
Hypocalcemia, autosomal dominant, 601198 (3)
Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3)
Hypocalciuric hypercalcemia, type I, 145980 (3)
{Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3)
CD207 [?Birbeck granule deficiency], 613393 (3)
CHI3L1 {Schizophrenia, susceptibility to}, 181500 (3)
{Asthma-related traits, susceptibility to, 7}, 611960 (3)
COL18A1 Knobloch syndrome, type 1, 267750 (3)
COL6A3 Bethlem myopathy 1, 158810 (3)
Dystonia 27, 616411 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
COL9A3 {Intervertebral disc disease, susceptibility to}, 603932 (3)
Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 (3)
COMT {Panic disorder, susceptibility to}, 167870 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
CPOX Harderoporphyria, 121300 (3)
Coproporphyria, 121300 (3)
CREB3L1 Osteogenesis imperfecta, type XVI, 616229 (3)
CRYBA4 Cataract 23, 610425 (3)
CSF3R Neutropenia, severe congenital, 7, autosomal recessive, 617014 (3)
CYFIP2 Epileptic encephalopathy, early infantile, 65, 618008 (3)
CYP11A1 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3)
CYP11B2 Aldosterone to renin ratio raised (3)
{Low renin hypertension, susceptibility to} (3)
Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)
Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3)
DAB1 Spinocerebellar ataxia 37, 615945 (3)
DCPS Al-Raqad syndrome, 616459 (3)
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DPP6 {Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3)
Mental retardation, autosomal dominant 33, 616311 (3)
DSP Arrhythmogenic right ventricular dysplasia 8, 607450 (3)
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)
Epidermolysis bullosa, lethal acantholytic, 609638 (3)
Keratosis palmoplantaris striata II, 612908 (3)
Skin fragility-woolly hair syndrome, 607655 (3)
EGFR Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3)
{Nonsmall cell lung cancer, susceptibility to}, 211980 (3)
?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3)
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)
EIF2AK3 Wolcott-Rallison syndrome, 226980 (3)
EP300 Colorectal cancer, somatic, 114500 (3)
Menke-Hennekam syndrome 2, 618333 (3)
Rubinstein-Taybi syndrome 2, 613684 (3)
EPHA2 Cataract 6, multiple types, 116600 (3)
EPHX2 {Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (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)
ERCC6L2 Bone marrow failure syndrome 2, 615715 (3)
EYS Retinitis pigmentosa 25, 602772 (3)
F11 Factor XI deficiency, autosomal dominant, 612416 (3)
Factor XI deficiency, autosomal recessive, 612416 (3)
FAM134B Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)
FDFT1 Squalene synthase deficiency, 618156 (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)
FLT4 Hemangioma, capillary infantile, somatic, 602089 (3)
Lymphatic malformation 1, 153100 (3)
GALNS Mucopolysaccharidosis IVA, 253000 (3)
GBE1 Glycogen storage disease IV, 232500 (3)
Polyglucosan body disease, adult form, 263570 (3)
GTPBP2 Jaberi-Elahi syndrome, 617988 (3)
HAAO Vertebral, cardiac, renal, and limb defects syndrome 1, 617660 (3)
HBB Heinz body anemia, 140700 (3)
Hereditary persistence of fetal hemoglobin, 141749 (3)
{Malaria, resistance to}, 611162 (3)
Delta-beta thalassemia, 141749 (3)
Erythrocytosis 6, 617980 (3)
Methmoglobinemia, beta type, 617971 (3)
Sickle cell anemia, 603903 (3)
Thalassemia, beta, 613985 (3)
Thalassemia-beta, dominant inclusion-body, 603902 (3)
HCN1 Epileptic encephalopathy, early infantile, 24, 615871 (3)
HRAS Bladder cancer, somatic, 109800 (3)
Congenital myopathy with excess of muscle spindles, 218040 (3)
Costello syndrome, 218040 (3)
Nevus sebaceous or woolly hair nevus, somatic, 162900 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
Spitz nevus or nevus spilus, somatic, 137550 (3)
Thyroid carcinoma, follicular, somatic, 188470 (3)
HRG Thrombophilia due to HRG deficiency, 613116 (3)
Thrombophilia due to elevated HRG, 613116 (1)
HSPA9 Anemia, sideroblastic, 4, 182170 (3)
Even-plus syndrome, 616854 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
IGHMBP2 Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3)
Neuronopathy, distal hereditary motor, type VI, 604320 (3)
IL2RG Combined immunodeficiency, X-linked, moderate, 312863 (3)
Severe combined immunodeficiency, X-linked, 300400 (3)
INPP5E Joubert syndrome 1, 213300 (3)
Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)
ITPR2 ?Anhidrosis, isolated, with normal sweat glands, 106190 (3)
KRAS Arteriovenous malformation of the brain, somatic, 108010 (3)
Gastric cancer, somatic, 137215 (3)
Bladder cancer, somatic, 109800 (3)
Breast cancer, somatic, 114480 (3)
Cardiofaciocutaneous syndrome 2, 615278 (3)
Leukemia, acute myeloid, 601626 (3)
Lung cancer, somatic, 211980 (3)
Noonan syndrome 3, 609942 (3)
Pancreatic carcinoma, somatic, 260350 (3)
RAS-associated autoimmune leukoproliferative disorder, 614470 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
LIG4 {Multiple myeloma, resistance to}, 254500 (3)
LIG4 syndrome, 606593 (3)
LIPE Lipodystrophy, familial partial, type 6, 615980 (3)
LMAN1 Combined factor V and VIII deficiency, 227300 (3)
LRP6 Tooth agenesis, selective, 7, 616724 (3)
{Coronary artery disease, autosomal dominant, 2}, 610947 (3)
LRRK2 {Parkinson disease 8}, 607060 (3)
MAP3K8 Lung cancer, somatic, 211980 (3)
MAT1A Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3)
Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)
MEFV Familial Mediterranean fever, AD, 134610 (3)
Familial Mediterranean fever, AR, 249100 (3)
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3)
MTMR2 Charcot-Marie-Tooth disease, type 4B1, 601382 (3)
MVK Hyper-IgD syndrome, 260920 (3)
Mevalonic aciduria, 610377 (3)
Porokeratosis 3, multiple types, 175900 (3)
MYH11 Aortic aneurysm, familial thoracic 4, 132900 (3)
NBAS Infantile liver failure syndrome 2, 616483 (3)
Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)
NCF2 Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)
NEK2 ?Retinitis pigmentosa 67, 615565 (3)
NPC1 Niemann-Pick disease, type C1, 257220 (3)
Niemann-Pick disease, type D, 257220 (3)
NPC1 {Nasopharyngeal carcinoma 1} (2)
NPPA Atrial fibrillation, familial, 6, 612201 (3)
Atrial standstill 2, 615745 (3)
NPRL3 Epilepsy, familial focal, with variable foci 3, 617118 (3)
NQO1 {Leukemia, post-chemotherapy, susceptibility to} (3)
{Benzene toxicity, susceptibility to} (3)
{Breast cancer, poor survival after chemotherapy for} (3)
OPLAH 5-oxoprolinase deficiency, 260005 (3)
PAX8 Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 (3)
PCK1 ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3)
PDE10A Dyskinesia, limb and orofacial, infantile-onset, 616921 (3)
Striatal degeneration, autosomal dominant, 616922 (3)
PNP Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3)
PRKCD Autoimmune lymphoproliferative syndrome, type III, 615559 (3)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
PSAT1 Neu-Laxova syndrome 2, 616038 (3)
?Phosphoserine aminotransferase deficiency, 610992 (3)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
RELA ?Mucocutaneous ulceration, chronic, 618287 (3)
RIPK1 Immunodeficiency 57, 618108 (3)
RNASET2 Leukoencephalopathy, cystic, without megalencephaly, 612951 (3)
RNF43 Sessile serrated polyposis cancer syndrome, 617108 (3)
ROR2 Brachydactyly, type B1, 113000 (3)
Robinow syndrome, autosomal recessive, 268310 (3)
RRM2B Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)
Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 (3)
SCAPER Intellectual developmental disorder and retinitis pigmentosa, 618195 (3)
SGPL1 Nephrotic syndrome, type 14, 617575 (3)
SLC12A5 Epileptic encephalopathy, early infantile, 34, 616645 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685 (3)
SLC26A3 Diarrhea 1, secretory chloride, congenital, 214700 (3)
SLC46A1 Folate malabsorption, hereditary, 229050 (3)
SNRNP200 Retinitis pigmentosa 33, 610359 (3)
SON ZTTK syndrome, 617140 (3)
SPECC1L Hypertelorism, Teebi type, 145420 (3)
?Facial clefting, oblique, 1, 600251 (3)
Opitz GBBB syndrome, type II, 145410 (3)
TGIF1 Holoprosencephaly 4, 142946 (3)
TPH2 {Unipolar depression, susceptibility to}, 608516 (3)
{Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3)
UMPS Orotic aciduria, 258900 (3)
VWF von Willebrand disease, type 1, 193400 (3)
von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)
von Willibrand disease, type 3, 277480 (3)
WARS Neuronopathy, distal hereditary motor, type IX, 617721 (3)
WAS Neutropenia, severe congenital, X-linked, 300299 (3)
Thrombocytopenia, X-linked, 313900 (3)
Thrombocytopenia, X-linked, intermittent, 313900 (3)
Wiskott-Aldrich syndrome, 301000 (3)
WNK1 Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
Pseudohypoaldosteronism, type IIC, 614492 (3)
WNT1 {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221 (3)
Osteogenesis imperfecta, type XV, 615220 (3)
XDH Xanthinuria, type I, 278300 (3)
YWHAG Epileptic encephalopathy, early infantile, 56, 617665 (3)
ZNF513 ?Retinitis pigmentosa 58, 613617 (3)

Genes at Clinical Genomics Database

ACADS, ACVR1, ADA, ADCK3, ALDH4A1, ALG12, ALG9, APC, AQP2, ARSB, BARD1, BSCL2, CA8, CASR, CD207, COL18A1, COL6A3, COL9A3, COMT, CPOX, CREB3L1, CRYBA4, CSF3R, CYP11A1, CYP11B2, DCPS, DNAH5, DPP6, DSP, DYX1C1, EGFR, EIF2AK3, EP300, EPHA2, ERCC6, ERCC6L2, EYS, F11, FAM134B, FGFR2, FLT4, GALNS, GBE1, HBB, HCN1, HRAS, HRG, HSPA9, IGHMBP2, IL2RG, INPP5E, ITPR2, KRAS, LIG4, LIPE, LMAN1, LRP6, LRRK2, MAT1A, MEFV, MTAP, MTMR2, MVK, MYH11, NBAS, NCF2, NEK2, NPC1, NPPA, OPLAH, PAX8, PDE10A, PNP, PRKCD, PRKDC, PSAT1, RECQL4, RNASET2, ROR2, RRM2B, SLC12A5, SLC26A3, SLC46A1, SNRNP200, SPECC1L, TGIF1, TRAP1, UMPS, VWF, WAS, WNK1, WNT1, XDH, ZNF480, ZNF513,
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
ACVR1 Fibrodysplasia ossificans progressiva
ADA Severe combined immunodeficiency due to adenosine deaminase deficiency
ADCK3 Coenzyme Q10 deficiency
Progressive cerebellar ataxia and atrophy
Spinocerebellar ataxia 9
ALDH4A1 Hyperprolinemia, type II
ALG12 Congenital disorder of glycosylation, type Ig
ALG9 Congenital disorder of glycosylation, type Il
APC Familial adenomatous polyposis
Gardner syndrome
Desmoid disease, hereditary
AQP2 Diabetes insipidus, nephrogenic, autosomal
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy)
BARD1 Breast cancer, susceptibility to
BSCL2 Lipodystrophy, congenital generalized, type 2
Encephalopathy, progressive, with or without lipodystrophy
CA8 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
CASR Hyperparathyroidism, neonatal
Hypocalcemia, autosomal dominant
Hypocalcemia, autosomal dominant, with Bartter syndrome
Hypocalciuric hypercalcemia, type I
Hyperparathyroidism, neonatal severe primary
Hypoparathyroidism, familial isolated
Hyperparathyroidism, familial primary
CD207 Birbeck granule deficiency
COL18A1 Knobloch syndrome 1
COL6A3 Ullrich congenital muscular dystrophy 1
Bethlem myopathy 1
Dystonia 27
COL9A3 Epiphyseal dysplasia, multiple, 3
COMT Medication response, association with
CPOX Coproporphyria
Harderoporphyria
CREB3L1 Osteogenesis imperfecta, type XVI
CRYBA4 Cataract 23
CSF3R Neutrophilia, hereditary
CYP11A1 Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete
CYP11B2 Corticosterone methyloxidase type I deficiency
Corticosterone methyloxidase type II deficiency
Glucocorticoid-remediable aldosteronism
DCPS Al-Raqad syndrome
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
DPP6 Ventricular fibrillation, paroxysmal familial, 2
DSP Arrhythmogenic right ventricular dysplasia, familial 8
Cardiomyopathy, dilated, with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
DYX1C1 Ciliary dyskinesia, primary 25
EGFR Acute myeloid leukemia, familial
Lung cancer, familial, susceptibilty to
Inflammatory skin and bowel disease, neonatal, 2
EIF2AK3 Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
Wolcott-Rallison syndrome
EP300 Rubinstein-Taybi syndrome 2
EPHA2 Cataract 6, multiple types
ERCC6 Xeroderma Pigmentosum-Cockayne Syndrome
De Sanctis-Cacchione syndrome
Premature ovarian failure 11 (AD)
ERCC6L2 Bone marrow failure syndrome 2
EYS Retitinis pigmentosa 25
F11 Factor XI deficiency
FAM134B Neuropathy, hereditary sensory and autonomic, type IIB
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
FLT4 Lymphedema, hereditary I (Milory disease)
GALNS Mucopolysaccharidosis IVA (Morquio syndrome A)
GBE1 Glycogen storage disease IV
HBB Beta-thalassemia
Sickle cell disease
Thalassemia-beta, dominant inclusion body
Other Thalassemias/Hemoglobinopathies
HCN1 Epileptic encephalopathy, early infantile, 24
HRAS Costello syndrome
Congenital myopathy with excess of muscle spindles
HRG Thrombophilia due to histidine-rich glycoprotein deficiency
HSPA9 Anemia, sideroblastic 4
IGHMBP2 Spinal muscular atrophy, distal, autosomal recessive, 1
Charcot-Marie-Tooth disease, axonal, type 2S
IL2RG Combined immunodeficiency, X-linked
INPP5E Joubert syndrome 1
Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)
ITPR2 Anhidrosis, isolated, with normal sweat glands (Dann-Epstein-Sohar syndrome)
KRAS Noonan syndrome
Cardiofaciocutaneous syndrome
LIG4 LIG4 syndrome
Severe combined immunodeficiency with sensitivity to ionizing radiation
LIPE Abdominal obesity-metabolic syndrome 4
LMAN1 Combined factor V and VIII deficiency
LRP6 Coronary artery disease, autosomal dominant 2
LRRK2 Parkinson disease 8
Dementia, Lewy body
MAT1A Methionine adenosyltransferase deficiency
MEFV Familial Mediterranean fever
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma
MTMR2 Charcot-Marie-Tooth disease, type 4B1
MVK Mevalonic aciduria
Hyper-IgD syndrome
MYH11 Aortic aneurysm, familial thoracic 4
NBAS Infantile liver failure syndrome 2
Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome)
NCF2 Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type II
NEK2 Retinitis pigmentosa 67
NPC1 Niemann-Pick disease, type C1
Niemann-Pick disease, type D
NPPA Atrial fibrillation, familial, 6
Atrial standstill 2
OPLAH 5-oxoprolinase deficiency
PAX8 Hypothyroidism, congenital, nongoitrous 2
PDE10A Striatal degeneration, autosomal dominant 2
Infantile-onset dyskinesia
PNP Purine nucleoside phosphorylase deficiency
PRKCD Autoimmune lymphoproliferative syndrome type III
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
PSAT1 Phosphoserine aminotransferase deficiency
RECQL4 Baller-Gerold syndrome
RAPADILINO syndrome
Rothmund-Thomson syndrome
RNASET2 Leukoencephalopathy, cystic, without megalencephaly
ROR2 Robinow syndrome, autosomal recessive
Brachydactyly, type B1
RRM2B Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5
Mitochondrial DNA depletion syndrome 8A
Mitochondrial DNA depletion syndrome 8B
SLC12A5 Epileptic encephalopathy, early infantile, 34
SLC26A3 Diarrhea 1, secretory chloride, congenital
SLC46A1 Folate malabsorption, hereditary
SNRNP200 Retinitis pigmentosa 33
SPECC1L Facial clefting, oblique, 1
Opitz GBBB syndrome, type II
TGIF1 Holoprosencephaly 4
TRAP1 Congenital abnormalities of the kidney and urinary tract
VACTERL association
UMPS Orotic aciduria
VWF von Willebrand disease, type 1
von Willebrand disease, type 2A
von Willebrand disease, type 3
WAS Wiskott-Aldrich syndrome
Thrombocytopenia 1
Neutropenia, severe congenital, X-linked
WNK1 Pseudohypoaldosteronism, type IIC
Neuropathy, hereditary sensory and autonomic, type IIA
WNT1 Osteoprosis, autosomal dominant
Osteogenesis imperfecta, type XV
XDH Xanthinuria, type I
ZNF480 Schizophrenia
ZNF513 Retinitis pigmentosa 58

Genes at HGMD

Summary

Number of Variants: 511
Number of Genes: 469

Export to: CSV

AADACL3

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 tsvc_variants_ionxpress_001-5225 1 rs770467308
dbSNP Clinvar
12785493 638.77 TG T,TT PASS 1/1 71 FRAME_SHIFT HIGH None None None None None None None AADACL3|0.001467435|92.94%

ACACB

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 tsvc_variants_ionxpress_001-5225 12 rs11065772
dbSNP Clinvar
109617865 681.536 T C PASS 1/1 74 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.67732 0.67730 0.25996 None None None None None None ACACB|0.108212697|49.54%

ACADS

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 tsvc_variants_ionxpress_001-5225 12 rs3914
dbSNP Clinvar
121174899 117.39 T C PASS 0/1 39 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59066 0.59070 0.49323 None None None None None None ACADS|0.070436549|57.39%

ACLY

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 tsvc_variants_ionxpress_001-5225 17 rs8065502
dbSNP Clinvar
40048613 762.131 A G PASS 1/1 82 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.90435 0.90440 0.12479 None None None None None None ACLY|0.44685425|18.3%

ACSM2A

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 tsvc_variants_ionxpress_001-5225 16 . 20476851 58.0286 CT C,CC PASS 0/2 23 FRAME_SHIFT HIGH None None None None None None None ACSM2A|0.005190474|85.6%
View tsvc_variants_ionxpress_001-5225 16 rs34655000
dbSNP Clinvar
20476893 52.8347 G A PASS 0/1 26 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.01854 0.00 0.42 None None None None None None ACSM2A|0.005190474|85.6%
View tsvc_variants_ionxpress_001-5225 16 rs1700805
dbSNP Clinvar
20488696 34.7138 A G PASS 0/1 23 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.48482 0.48480 0.35969 None None None None None None ACSM2A|0.005190474|85.6%

ACTR8

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 tsvc_variants_ionxpress_001-5225 3 rs4687757
dbSNP Clinvar
53906513 116.736 G A PASS 0/1 54 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.69030 0.69030 0.48293 None None None None None None ACTR8|0.331819735|25.35%

ACVR1

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 tsvc_variants_ionxpress_001-5225 2 rs1146031
dbSNP Clinvar
158626980 446.125 C T PASS 1/1 47 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.91394 0.91390 0.08850 None None None None None None ACVR1|0.908763541|3.27%

ADA

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 tsvc_variants_ionxpress_001-5225 20 rs394105
dbSNP Clinvar
43264927 612.394 C T PASS 1/1 69 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.98223 0.98220 0.01538 None None None None None None ADA|0.574821556|12.82%

ADAM2

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 tsvc_variants_ionxpress_001-5225 8 . 39626980 55.0193 GA G PASS 1/1 22 FRAME_SHIFT HIGH None None None None None None None ADAM2|0.001389764|93.41%

ADCK3

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 tsvc_variants_ionxpress_001-5225 1 rs3738725
dbSNP Clinvar
227174210 735.087 T C PASS 1/1 78 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.31390 0.31390 0.44218 None None None None None None ADCK3|0.102470418|50.69%
View tsvc_variants_ionxpress_001-5225 1 rs12593
dbSNP Clinvar
227172290 1017.04 C T PASS 1/1 107 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.23862 0.23860 0.37367 None None None None None None ADCK3|0.102470418|50.69%

ADCY10

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 tsvc_variants_ionxpress_001-5225 1 rs203849
dbSNP Clinvar
167849414 511.186 A G PASS 1/1 62 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.49321 0.49320 0.46570 None None None None None None ADCY10|0.02878338|70.03%

ADH1C

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 tsvc_variants_ionxpress_001-5225 4 rs283413
dbSNP Clinvar
100268190 656.35 A C PASS 1/1 87 STOP_LOST HIGH None 0.99281 0.99280 0.00839 None None None None None None None

AGO2

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 tsvc_variants_ionxpress_001-5225 8 rs2292781
dbSNP Clinvar
141559358 588.217 G A PASS 1/1 67 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.47244 0.47240 0.39734 None None None None None None AGO2|0.736134544|7.47%

ALDH3B1

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 tsvc_variants_ionxpress_001-5225 11 rs11436139,rs58238184
dbSNP Clinvar
67795378 133.377 G GC PASS 1/1 25 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00424 None None None None None None ALDH3B1|0.033093329|68.12%
View tsvc_variants_ionxpress_001-5225 11 rs58160034,rs397695802
dbSNP Clinvar
67789293 420.534 G GC PASS 1/1 74 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.00280 0.99720 0.00024 None None None None None None ALDH3B1|0.033093329|68.12%

ALDH4A1

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 tsvc_variants_ionxpress_001-5225 1 rs2230705
dbSNP Clinvar
19203997 262.974 C G PASS 0/1 95 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.64157 0.64160 0.28846 None None None None None None ALDH4A1|0.121498662|47.22%
View tsvc_variants_ionxpress_001-5225 1 rs2230709
dbSNP Clinvar
19201928 97.6329 C T PASS 0/1 33 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.04792 0.04792 0.11203 0.56 0.11 None None None None None None ALDH4A1|0.121498662|47.22%
View tsvc_variants_ionxpress_001-5225 1 rs7550938
dbSNP Clinvar
19202917 220.457 T C PASS 0/1 69 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.66094 0.66090 0.37698 None None None None None None ALDH4A1|0.121498662|47.22%

ALG12

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 tsvc_variants_ionxpress_001-5225 22 rs776485553
dbSNP Clinvar
50297990 209.008 TG T PASS 1/1 145 FRAME_SHIFT HIGH None None None None None None None ALG12|0.005312033|85.41%

ALG9

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 tsvc_variants_ionxpress_001-5225 11 rs10708475
dbSNP Clinvar
111742145 715.078 CG C PASS 1/1 113 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00040 None None None None None None ALG9|0.352156163|23.94%

ALOX15B

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 tsvc_variants_ionxpress_001-5225 17 rs76589243
dbSNP Clinvar
7942901 115.961 C G PASS 0/1 78 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.26358 0.26360 0.22180 None None None None None None ALOX15B|0.008183706|82.49%

ANAPC1

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 tsvc_variants_ionxpress_001-5225 2 rs772327654
dbSNP Clinvar
112582738 27.7852 TG T PASS 0/1 32 FRAME_SHIFT HIGH None None None None None None None ANAPC1|0.14646446|43.53%

ANKRD30B

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 tsvc_variants_ionxpress_001-5225 18 . 14852334 318.01 AC A,AA PASS 1/2 34 FRAME_SHIFT HIGH None None None None None None None ANKRD30B|0.000995671|95.47%

ANKUB1

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 tsvc_variants_ionxpress_001-5225 3 . 149485292 174.654 CT CC,C PASS 0/1 78 FRAME_SHIFT HIGH None None None None None None None ANKUB1|0.042457252|64.97%

ANPEP

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 tsvc_variants_ionxpress_001-5225 15 rs25653
dbSNP Clinvar
90349558 161.762 C T PASS 0/1 90 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.57907 0.57910 0.36598 0.53 0.00 None None None None None None ANPEP|0.009750059|81.03%

AOAH

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 tsvc_variants_ionxpress_001-5225 7 rs59476355
dbSNP Clinvar
36552729 112.66 A AT PASS 1/1 28 FRAME_SHIFT HIGH None 0.99980 0.99980 None None None None None None AOAH|0.05743156|60.58%

APC

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 tsvc_variants_ionxpress_001-5225 5 rs41115
dbSNP Clinvar
112175770 541.676 G A PASS 1/1 65 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH None 0.66554 0.66550 0.41378 None None None None None None APC|0.952088564|2.19%
View tsvc_variants_ionxpress_001-5225 5 rs2229992
dbSNP Clinvar
112162854 262.191 T C PASS 1/1 29 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.50998 0.51000 0.46217 None None None None None None APC|0.952088564|2.19%

APEX1

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 tsvc_variants_ionxpress_001-5225 14 rs1048945
dbSNP Clinvar
20924167 59.5685 G C PASS 0/1 30 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00958 0.00959 0.02806 0.03 0.01 None None None None None None APEX1|0.756632015|6.94%

APOBEC2

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 tsvc_variants_ionxpress_001-5225 6 rs41273362
dbSNP Clinvar
41029294 202.446 C A PASS 1/1 24 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00220 0.00220 0.00692 0.00 0.98 None None None None None None OARD1|0.582190497|12.48%,APOBEC2|0.303648666|27.39%

APOH

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 tsvc_variants_ionxpress_001-5225 17 rs1801689
dbSNP Clinvar
64210580 103.618 A C PASS 0/1 35 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.01637 0.01637 0.02691 0.00 1.00 None None None None None None APOH|0.076233012|56.02%

AQP2

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 tsvc_variants_ionxpress_001-5225 12 rs426496
dbSNP Clinvar
50348078 68.1244 T C PASS 0/1 27 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.66713 0.66710 0.30671 None None None None None None AQP2|0.155383896|42.24%

AQR

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 tsvc_variants_ionxpress_001-5225 15 rs80093103
dbSNP Clinvar
35198879 81.1219 G A PASS 0/1 73 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.04692 0.04692 0.06536 None None None None None None AQR|0.159778967|41.59%

ARHGEF16

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 tsvc_variants_ionxpress_001-5225 1 . 3379729 31.6499 CG C PASS 0/1 43 FRAME_SHIFT HIGH None None None None None None None ARHGEF16|0.026734333|71.01%

ARMS2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 10 rs2736911
dbSNP Clinvar
124214355 149.007 C T PASS 0/1 73 STOP_GAINED HIGH None 0.11442 0.11440 0.12546 None None None None None None ARMS2|0.000659964|97.48%

ARNT

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 tsvc_variants_ionxpress_001-5225 1 . 150804298 21.8349 TG T PASS 0/1 28 FRAME_SHIFT HIGH None None None None None None None ARNT|0.76129354|6.81%

ARSB

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 5 rs1071598
dbSNP Clinvar
78181423 98.0071 C T PASS 0/1 44 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.10863 0.10860 0.13701 0.19 0.12 None None None None None None ARSB|0.08485524|54.24%

ARSD

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 tsvc_variants_ionxpress_001-5225 X rs780429990
dbSNP Clinvar
2836137 187.005 CG CA,C PASS 0/1 81 FRAME_SHIFT HIGH None None None None None None None ARSD|0.001611053|92.29%

ARSH

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 tsvc_variants_ionxpress_001-5225 X rs200124099
dbSNP Clinvar
2942106 130.98 A AC PASS 1/1 46 FRAME_SHIFT HIGH None None None None None None None ARSH|0.004353843|86.54%

ART5

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 tsvc_variants_ionxpress_001-5225 11 . 3661588 115.209 G GT... PASS 1/1 23 FRAME_SHIFT HIGH None None None None None None None ART5|0.101580058|50.85%

ASMTL

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 X rs3183025
dbSNP Clinvar
1554649 481.526 T C PASS 1/1 53 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.38478 0.38480 0.37514 None None None None None None ASMTL|0.001996891|91.03%

B3GAT2

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 tsvc_variants_ionxpress_001-5225 6 . 71665986 31.613 GC G PASS 0/1 55 FRAME_SHIFT HIGH None None None None None None None B3GAT2|0.224931204|33.88%

BARD1

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 tsvc_variants_ionxpress_001-5225 2 . 215632255 220.446 CA TG PASS 0/1 52 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None BARD1|0.230178617|33.35%

BCL6B

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 tsvc_variants_ionxpress_001-5225 17 . 6927762 34.9929 AC A PASS 1/1 16 FRAME_SHIFT HIGH None None None None None None None BCL6B|0.213572706|35.16%

BECN1

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 tsvc_variants_ionxpress_001-5225 17 rs140668306
dbSNP Clinvar
40963741 37.1676 G A PASS 0/1 35 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00100 0.00100 0.00038 None None None None None None BECN1|0.872814445|4.14%

BPIFA2

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 tsvc_variants_ionxpress_001-5225 20 rs17124277
dbSNP Clinvar
31756954 321.325 G A PASS 0/1 114 START_LOST HIGH None 0.02796 0.02796 0.03206 0.03 0.99 None None None None None None BPIFA2|0.000061264|99.98%

BPIFB6

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 tsvc_variants_ionxpress_001-5225 20 . 31627290 116.46 GA G,GG PASS 0/2 44 FRAME_SHIFT HIGH None None None None None None None BPIFB6|0.017668453|75.5%

BRD2

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 tsvc_variants_ionxpress_001-5225 6 . 32942301 655.778 AG A,AA PASS 1/1 71 FRAME_SHIFT HIGH None None None None None None None BRD2|0.972652512|1.63%

BSCL2

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 tsvc_variants_ionxpress_001-5225 11 . 62458782 63.6833 GC G PASS 1/1 41 FRAME_SHIFT HIGH None None None None None None None BSCL2|0.09973617|51.22%

C12orf60

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 tsvc_variants_ionxpress_001-5225 12 rs139293175,rs10556010
dbSNP Clinvar
14976417 65.6483 CTA C PASS 0/1 77 FRAME_SHIFT HIGH None 0.19010 0.19010 0.19048 None None None None None None C12orf60|0.003562818|87.67%

C2orf83

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 tsvc_variants_ionxpress_001-5225 2 rs2176186
dbSNP Clinvar
228476140 106.473 C T PASS 0/1 90 STOP_GAINED HIGH None 0.31390 0.31390 0.28079 None None None None None None C2orf83|0.001157033|94.67%

C5orf20

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 tsvc_variants_ionxpress_001-5225 5 rs12520799
dbSNP Clinvar
134782450 121.395 T A PASS 0/1 48 STOP_GAINED HIGH None 0.64517 0.64520 0.40151 None None None None None None DCANP1|0.000625841|97.73%,TIFAB|0.012847206|78.59%

C8orf37

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 tsvc_variants_ionxpress_001-5225 8 . 96264418 27.2259 GA G PASS 0/1 16 FRAME_SHIFT HIGH None None None None None None None C8orf37|0.081120216|54.96%

CA6

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 tsvc_variants_ionxpress_001-5225 1 rs2274330
dbSNP Clinvar
9009470 265.04 G C PASS 0/1 116 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.26218 0.26220 0.23935 None None None None None None CA6|0.001337936|93.66%

CA8

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 tsvc_variants_ionxpress_001-5225 8 rs7464181
dbSNP Clinvar
61178574 178.896 T C PASS 0/1 87 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.50100 0.50100 0.47178 None None None None None None CA8|0.652125387|10.02%

CASP12

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 tsvc_variants_ionxpress_001-5225 11 rs497116
dbSNP Clinvar
104763117 393.072 G A PASS 1/1 42 STOP_GAINED HIGH None 0.94848 0.94850 None None None None None None CASP12|0.001761043|91.65%

CASR

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 tsvc_variants_ionxpress_001-5225 3 rs886041637
dbSNP Clinvar
122000981 48.2448 C T PASS 0/1 20 STOP_GAINED HIGH None None None None None None None CASR|0.90333935|3.37%

CBR3

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 tsvc_variants_ionxpress_001-5225 21 rs881711
dbSNP Clinvar
37507745 1687.59 C T PASS 1/1 180 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.82029 0.82030 0.15339 None None None None None None CBR3|0.052541759|61.89%

CCDC101

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 tsvc_variants_ionxpress_001-5225 16 rs11401
dbSNP Clinvar
28602991 133.869 A G PASS 0/1 51 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.17412 0.17410 0.17262 None None None None None None CCDC101|0.21642996|34.83%

CCDC144NL

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 tsvc_variants_ionxpress_001-5225 17 rs79930314
dbSNP Clinvar
20769899 187.054 G T PASS 0/1 79 STOP_GAINED HIGH None None None None None None None CCDC144NL|0.000779475|96.79%

CCHCR1

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 tsvc_variants_ionxpress_001-5225 6 rs3130453
dbSNP Clinvar
31124849 353.74 C T PASS 1/1 39 STOP_GAINED HIGH None 0.46925 0.46920 0.48507 None None None None None None CCHCR1|0.032661886|68.3%

CD180

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 tsvc_variants_ionxpress_001-5225 5 rs1697144
dbSNP Clinvar
66480004 504.957 T C PASS 1/1 54 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99501 0.99500 0.00008 0.57 0.00 None None None None None None CD180|0.02755401|70.63%

CD207

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 tsvc_variants_ionxpress_001-5225 2 rs11450450,rs397692276
dbSNP Clinvar
71062833 121.379 G GC PASS 1/1 25 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00025 None None None None None None CD207|0.004253024|86.68%

CD6

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 tsvc_variants_ionxpress_001-5225 11 . 60785351 422.222 CA C,CG PASS 1/2 47 FRAME_SHIFT HIGH None None None None None None None CD6|0.006908987|83.59%

CDC20B

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 tsvc_variants_ionxpress_001-5225 5 rs137940833
dbSNP Clinvar
54468431 31.8468 AC... A PASS 0/1 32 FRAME_SHIFT HIGH None 0.00839 0.00839 0.01214 None None None None None None CDC20B|0.017878528|75.36%

CHI3L1

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 tsvc_variants_ionxpress_001-5225 1 rs4950927
dbSNP Clinvar
203148633 664.545 A G PASS 1/1 72 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99960 0.99960 0.00185 None None None None None None CHI3L1|0.048433283|63.15%
View tsvc_variants_ionxpress_001-5225 1 rs880633
dbSNP Clinvar
203152801 107.067 T C PASS 0/1 56 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.37300 0.37300 0.41442 0.00 0.31 None None None None None None CHI3L1|0.048433283|63.15%

CHI3L2

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 tsvc_variants_ionxpress_001-5225 1 rs2494007
dbSNP Clinvar
111783996 969.289 A G PASS 1/1 106 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99940 0.99940 0.00062 None None None None None None CHI3L2|0.012602272|78.81%

CHIA

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 tsvc_variants_ionxpress_001-5225 1 rs2275253
dbSNP Clinvar
111861841 454.114 A G PASS 1/1 49 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.65915 0.65910 0.27764 0.99 0.00 None None None None None None CHIA|0.03435619|67.66%

CIB3

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 tsvc_variants_ionxpress_001-5225 19 . 16275654 238.619 C CT PASS 1/1 41 FRAME_SHIFT HIGH None None None None None None None CIB3|0.054781867|61.25%

CKAP5

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 tsvc_variants_ionxpress_001-5225 11 . 46765604 37.0887 CT C PASS 0/1 35 FRAME_SHIFT HIGH None None None None None None None CKAP5|0.997928049|0.57%

CKB

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 tsvc_variants_ionxpress_001-5225 14 rs1803283
dbSNP Clinvar
103986255 53.6558 C T PASS 0/1 24 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.63898 0.63900 0.41609 None None None None None None CKB|0.155239483|42.26%

CLC

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 tsvc_variants_ionxpress_001-5225 19 rs384138
dbSNP Clinvar
40224986 152.42 A G PASS 0/1 50 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.60923 0.60920 0.30071 None None None None None None CLC|0.000863861|96.26%

CLDN5

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 tsvc_variants_ionxpress_001-5225 22 rs885985
dbSNP Clinvar
19511925 1038.7 G A PASS 1/1 109 STOP_GAINED HIGH None 0.49681 0.49680 None None None None None None CLDN5|0.101200006|50.93%

CLTCL1

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 tsvc_variants_ionxpress_001-5225 22 rs11386977
dbSNP Clinvar
19189003 293.993 A AC PASS 1/1 53 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00051 None None None None None None CLTCL1|0.022666116|72.86%

CNTNAP4

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 tsvc_variants_ionxpress_001-5225 16 . 76572230 36.7067 CA C PASS 0/1 44 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None CNTNAP4|0.147801581|43.33%

COL18A1

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 tsvc_variants_ionxpress_001-5225 21 . 46924424 199.967 CC... CC... PASS 3/3 33 FRAME_SHIFT HIGH None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%

COL22A1

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 tsvc_variants_ionxpress_001-5225 8 . 139737648 30.4385 AG A PASS 0/1 44 FRAME_SHIFT HIGH None None None None None None None COL22A1|0.06710202|58.12%

COL26A1

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 tsvc_variants_ionxpress_001-5225 7 rs36008849,rs398095266
dbSNP Clinvar
101200669 277.999 A AG PASS 1/1 53 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00137 None None None None None None COL26A1|0.059520302|60.03%

COL6A3

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 tsvc_variants_ionxpress_001-5225 2 . 238258813 270.413 T TG PASS 1/1 50 FRAME_SHIFT HIGH None None None None None None None COL6A3|0.068829768|57.76%

COL9A3

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 tsvc_variants_ionxpress_001-5225 20 rs754423603
dbSNP Clinvar
61448944 47.4248 GC G,GG PASS 0/1 45 FRAME_SHIFT HIGH None None None None None None None COL9A3|0.05194578|62.08%

COMT

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 tsvc_variants_ionxpress_001-5225 22 rs4633
dbSNP Clinvar
19950235 92.546 C T PASS 0/1 38 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.37161 0.37160 0.46009 None None None None None None COMT|0.166055932|40.8%
View tsvc_variants_ionxpress_001-5225 22 rs4680
dbSNP Clinvar
19951271 53.8521 G A PASS 0/1 42 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.36921 0.36920 0.45148 0.09 0.08 None None None None None None COMT|0.166055932|40.8%

CPB2

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 tsvc_variants_ionxpress_001-5225 13 rs9316179
dbSNP Clinvar
46641466 92.0229 A G PASS 0/1 41 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.30751 0.30750 0.34553 None None None None None None CPB2|0.106282021|49.92%
View tsvc_variants_ionxpress_001-5225 13 rs200231942
dbSNP Clinvar
46648047 197.529 T C PASS 0/1 80 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00038 None None None None None None CPB2|0.106282021|49.92%

CPOX

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 tsvc_variants_ionxpress_001-5225 3 rs1729995
dbSNP Clinvar
98304467 383.912 T C PASS 1/1 42 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.75399 0.75400 0.25611 None None None None None None CPOX|0.108402411|49.49%

CREB3L1

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 tsvc_variants_ionxpress_001-5225 11 rs79068197,rs386373762
dbSNP Clinvar
46342259 426.506 A AG PASS 1/1 74 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00042 None None None None None None CREB3L1|0.229770101|33.39%

CRYBA4

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 tsvc_variants_ionxpress_001-5225 22 rs5761637
dbSNP Clinvar
27021457 170.641 T C PASS 0/1 75 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.92372 0.92370 0.12663 None None None None None None CRYBA4|0.095204311|52.06%

CSF3R

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 tsvc_variants_ionxpress_001-5225 1 rs769210858
dbSNP Clinvar
36935322 33.5506 TG T PASS 0/1 71 FRAME_SHIFT HIGH None None None None None None None CSF3R|0.025274485|71.67%

CTD-3193O13.9

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 tsvc_variants_ionxpress_001-5225 19 rs58971992
dbSNP Clinvar
7938306 103.719 A AG PASS 1/1 18 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99960 0.99960 None None None None None None None

CTDNEP1

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 tsvc_variants_ionxpress_001-5225 17 . 7154533 95.3084 AG A,AA PASS 0/2 48 FRAME_SHIFT HIGH None None None None None None None CTDNEP1|0.550939801|13.68%

CTXN1

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 tsvc_variants_ionxpress_001-5225 19 . 7990371 32.9303 GGC G,GG PASS 0/2 21 FRAME_SHIFT HIGH None None None None None None None CTXN1|0.137153335|44.85%

CYFIP2

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 tsvc_variants_ionxpress_001-5225 5 rs5872508,rs397781034,rs397712438
dbSNP Clinvar
156721863 531.847 T TC PASS 1/1 124 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00203 None None None None None None CYFIP2|0.509393402|15.41%

CYP11A1

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 tsvc_variants_ionxpress_001-5225 15 . 74659857 30.5661 TG T PASS 0/1 16 FRAME_SHIFT HIGH None None None None None None None CYP11A1|0.126875127|46.36%

CYP11B2

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 tsvc_variants_ionxpress_001-5225 8 rs4539
dbSNP Clinvar
143996539 339.296 T C PASS 1/1 38 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.34645 0.34640 0.37660 0.58 0.00 None None None None None None GML|0.000127964|99.9%,CYP11B2|0.013075672|78.46%
View tsvc_variants_ionxpress_001-5225 8 rs4538
dbSNP Clinvar
143994702 612.51 G T PASS 1/1 66 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.60763 0.60760 0.46585 None None None None None None GML|0.000127964|99.9%,CYP11B2|0.013075672|78.46%

CYTH3

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 tsvc_variants_ionxpress_001-5225 7 rs2301910
dbSNP Clinvar
6204999 152.319 A C PASS 0/1 90 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.79513 0.79510 0.25331 None None None None None None CYTH3|0.105093333|50.21%