+ Filter Options

SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
 EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

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

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

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

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE 		MCAP

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

+ Genes 469

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 associated with diseases 118

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

FOXD4
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 9 rs79220013
dbSNP Clinvar 		116800 37.1263 C G PASS 0/1 89 STOP_LOST HIGH None 0.20310 None None None None None None FOXD4|0.006056969|84.51%

NPRL3
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 rs57321480
dbSNP Clinvar 		138772 323.224 A AG PASS 1/1 56 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00016 None None None None None None NPRL3|0.194653902|37.31%

SIRT3
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 rs11246020
dbSNP Clinvar 		233067 101.018 C T PASS 0/1 65 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.11482 0.11480 0.15547 0.66 0.00 None None None None None None SIRT3|0.04850739|63.11%
View tsvc_variants_ionxpress_001-5225 11 rs11555236
dbSNP Clinvar 		233212 89.3334 C A PASS 0/1 44 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.11502 0.11500 0.15547 None None None None None None SIRT3|0.04850739|63.11%

IQSEC3
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 . 248201 930.144 GC G,GG PASS 1/1 100 FRAME_SHIFT HIGH None None None None None None None IQSEC3|0.07327111|56.71%

HRAS
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 rs12628
dbSNP Clinvar 		534242 64.0955 A G PASS 0/1 41 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH None 0.29713 0.29710 0.35453 None None None None None None HRAS|0.999987107|0.08%

WNK1
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 rs141823469
dbSNP Clinvar 		974308 35.4452 T TC PASS 0/1 28 FRAME_SHIFT HIGH None None None None None None None WNK1|0.318010561|26.23%

SLC6A18
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 rs7447815
dbSNP Clinvar 		1240757 253.05 C G PASS 0/1 101 STOP_GAINED HIGH None 0.00060 0.34860 0.36445 None None None None None None SLC6A18|0.029366379|69.67%

ASMTL
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 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%

KRTAP5-6
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 . 1718675 68.9679 AAG A PASS 1/1 19 FRAME_SHIFT HIGH None None None None None None None KRTAP5-6|0.032035921|68.6%

RPA1
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 rs5030749
dbSNP Clinvar 		1733399 392.966 A G PASS 1/1 42 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.54413 0.54410 0.25541 None None None None None None SMYD4|0.036842252|66.85%,RPA1|0.607061605|11.56%

NME3
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 rs11890
dbSNP Clinvar 		1820992 220.29 T A PASS 0/1 114 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.76358 0.76360 0.16050 None None None None None None NME3|0.015536375|76.78%

ARSD
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 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%

RAP1GAP2
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 . 2930320 22.9643 TG T PASS 0/1 33 FRAME_SHIFT HIGH None None None None None None None RAP1GAP2|0.250616139|31.47%

ARSH
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 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%

MYOM1
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 18 rs1143657
dbSNP Clinvar 		3075746 131.23 G A PASS 0/1 67 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.18351 0.18350 0.16037 None None None None None None MYOM1|0.167204206|40.63%

RIPK1
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 rs2272990
dbSNP Clinvar 		3077141 608.604 T C PASS 1/1 72 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.84884 0.84880 0.08519 None None None None None None RIPK1|0.094475501|52.24%

PFKP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 10 rs4881080
dbSNP Clinvar 		3143643 771.393 A C PASS 1/1 83 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00100 0.99860 0.00039 None None None None None None PFKP|0.031194886|68.91%

MEFV
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 rs1231122
dbSNP Clinvar 		3293888 137.948 C T PASS 0/1 60 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.35363 0.35360 0.42358 None None None None None None MEFV|0.009048238|81.61%

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

MEGF6
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 rs779738603
dbSNP Clinvar 		3418428 393.693 GC AC,G PASS 1/2 69 FRAME_SHIFT HIGH None None None None None None None MEGF6|0.015000744|77.13%

TGIF1
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 18 . 3452215 78.5045 GC... GC... PASS 0/1 102 FRAME_SHIFT HIGH None None None None None None None TGIF1|0.263915986|30.39%

P2RX5
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 rs3215407,rs397743686
dbSNP Clinvar 		3594276 25.9971 TG T PASS 0/1 20 FRAME_SHIFT HIGH None 0.57348 0.57350 0.45614 None None None None None None P2RX5|0.012153199|79.12%

NLRC3
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 rs56070390,rs398078461,rs796086799
dbSNP Clinvar 		3602227 889.901 AG A PASS 1/1 153 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00017 None None None None None None NLRC3|0.028009063|70.4%

TP73
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 rs1801174
dbSNP Clinvar 		3638674 358.893 C T PASS 1/1 41 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.73602 0.73600 0.15054 None None None None None None TP73|0.323241881|25.95%

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

TRAP1
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 rs142413437
dbSNP Clinvar 		3724451 66.9574 A G PASS 0/1 23 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00200 0.00200 0.00246 None None None None None None DNASE1|0.039855019|65.82%,TRAP1|0.168599632|40.51%

RRM1
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 rs140091725
dbSNP Clinvar 		4148429 194.871 C T PASS 0/1 60 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00020 0.00020 0.00039 None None None None None None RRM1|0.93977129|2.5%

SETMAR
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 . 4345184 253.13 CC... CC... PASS 3/3 48 FRAME_SHIFT HIGH None None None None None None None SUMF1|0.2711895|29.81%,SETMAR|0.003628142|87.55%

HBB
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 rs713040
dbSNP Clinvar 		5248243 713.235 A G PASS 1/1 80 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.71426 0.71430 0.15133 None None None None None None HBB|0.071313084|57.13%

OR51I1
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 rs16930998
dbSNP Clinvar 		5462702 74.8409 G A PASS 0/1 72 STOP_GAINED HIGH None 0.12840 0.12840 0.01916 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR51I1|0.041373753|65.35%

NET1
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 10 rs4567355
dbSNP Clinvar 		5495218 868.238 T C PASS 1/1 96 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.97664 0.97660 0.02783 None None None None None None NET1|0.100975658|50.99%

OR52D1
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 rs576495879,rs36066208,rs146317894
dbSNP Clinvar 		5510540 69.5738 G GGGCT PASS 0/1 98 FRAME_SHIFT HIGH None 0.00739 0.09405 0.11491 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR52D1|0.027773257|70.52%

OR52E8
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 rs12419602
dbSNP Clinvar 		5877979 104.105 T A PASS 0/1 55 STOP_LOST HIGH None 0.37480 0.37480 0.41063 None None None None None None TRIM5|0.00243037|89.82%,OR52E8|0.008250943|82.4%

VWF
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 rs216310
dbSNP Clinvar 		6127943 247.13 A G PASS 1/1 26 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.77656 0.77660 None None None None None None VWF|0.625448521|10.93%

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%

PPP2R2C
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 4 . 6325182 33.7509 GC G PASS 0/1 46 FRAME_SHIFT HIGH None None None None None None None PPP2R2C|0.104750537|50.29%

TNFSF9
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 . 6534674 22.4245 CG... CG... PASS 0/1 16 FRAME_SHIFT HIGH None None None None None None None TNFSF9|0.000400628|98.95%

MAN2B2
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 4 . 6594946 95.3319 CA C,CC PASS 0/2 37 FRAME_SHIFT HIGH None None None None None None None MAN2B2|0.006822043|83.66%

ILK
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 rs1043388
dbSNP Clinvar 		6629665 261.8 C T PASS 0/1 94 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.31470 0.31470 0.29498 None None None None None None ILK|0.927031493|2.82%,TAF10|0.251862987|31.38%

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%

LEPREL2
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 rs57050687
dbSNP Clinvar 		6938023 290.522 C CG PASS 1/1 51 FRAME_SHIFT HIGH None 1.00000 0.00447 None None None None None None GPR162|0.14385703|43.89%,P3H3|0.042788046|64.86%

NLRP14
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 rs61063081
dbSNP Clinvar 		7059981 78.7603 G A PASS 0/1 35 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.09625 0.09625 0.17008 0.21 0.90 None None None None None None NLRP14|0.007912711|82.67%

PTPN6
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 rs2110072
dbSNP Clinvar 		7065635 476.629 T C PASS 1/1 51 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.94868 0.94870 0.07842 None None None None None None PTPN6|0.579428036|12.62%

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%

SENP3
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 rs58837213,rs398030265
dbSNP Clinvar 		7470285 399.586 CA C PASS 1/1 82 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None SENP3|0.655758186|9.88%

DSP
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 rs2076300
dbSNP Clinvar 		7584617 61.527 C T PASS 0/1 26 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.21166 0.21170 0.30225 None None None None None None DSP|0.573194355|12.87%

ITIH5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 10 . 7605077 285.43 TCCAT TC... PASS 1/1 32 FRAME_SHIFT HIGH None None None None None None None ITIH5|0.026992759|70.89%

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

ALOX15B
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 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%

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%

PIK3R6
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 rs56322041,rs869211942,rs397775164
dbSNP Clinvar 		8725214 490.407 A AG PASS 1/1 89 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99960 0.99960 0.00119 None None None None None None PIK3R6|0.019330881|74.51%

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%

MYH4
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 rs372204896
dbSNP Clinvar 		10366923 28.3585 AG A PASS 0/1 48 FRAME_SHIFT HIGH None 0.00008 None None None None None None MYH4|0.262019908|30.56%

KLRC1
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 . 10603669 294.463 G GC PASS 1/1 51 FRAME_SHIFT HIGH None None None None None None None KLRC1|0.000995781|95.46%

TPTE
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 rs1810540
dbSNP Clinvar 		10942756 45.635 G A PASS 0/1 135 STOP_GAINED HIGH None None None None None None None TPTE|0.001635216|92.18%

TAS2R46
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 rs2708381
dbSNP Clinvar 		11214145 225.678 C T PASS 0/1 133 STOP_GAINED HIGH None 0.21186 0.21190 0.22759 None None None None None None PRR4|0.000493683|98.46%,TAS2R14|0.00022192|99.72%,TAS2R46|0.000713016|97.2%

RMI2
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 rs7204628
dbSNP Clinvar 		11444572 257.202 A C PASS 0/1 113 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.17812 0.17810 0.24534 None None None None None None RMI2|0.047383579|63.49%

THSD7A
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 . 11676104 264.815 CG... CG... PASS 1/3 30 FRAME_SHIFT HIGH None None None None None None None THSD7A|0.279550197|29.12%

FDFT1
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 rs904011
dbSNP Clinvar 		11683653 1086.23 T C PASS 1/1 129 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.97504 0.97500 0.02630 None None None None None None FDFT1|0.104063444|50.39%

ECHDC3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 10 rs7899215
dbSNP Clinvar 		11797436 411.694 T C PASS 1/1 53 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.93131 0.93130 0.06366 None None None None None None ECHDC3|0.029496468|69.61%

ZNF823
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 . 11833654 66.4689 TA... AT... PASS 1/2 18 FRAME_SHIFT HIGH None None None None None None None ZNF823|0.001015528|95.35%

NPPA
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 rs5065
dbSNP Clinvar 		11906068 50.0336 A G PASS 0/1 41 STOP_LOST HIGH None 0.17911 0.17910 0.24104 None None None None None None NPPA|0.833426319|5.02%

LRP6
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 rs2302685
dbSNP Clinvar 		12301898 563.702 C T PASS 1/1 64 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.88558 0.88560 0.16000 1.00 0.00 None None None None None None BCL2L14|0.005004666|85.81%,LRP6|0.939860673|2.49%

AADACL3
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 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%

DNAH5
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 . 13885331 190.387 CT... CT... PASS 2/3 26 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None DNAH5|0.235040337|32.91%

IL27RA
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 . 14142703 643.464 GCC GC... PASS 1/2 168 FRAME_SHIFT HIGH None None None None None None None IL27RA|0.003015931|88.61%

ANKRD30B
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 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%

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%

PIR
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 X rs8094
dbSNP Clinvar 		15415583 166.494 C T PASS 1/1 21 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.43815 0.43810 0.49068 None None None None None None PIR|0.499774334|15.81%

NBAS
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 rs776797592
dbSNP Clinvar 		15542412 140.709 AT AA,A PASS 0/2 30 FRAME_SHIFT HIGH None 0.00008 None None None None None None NBAS|0.065334691|58.54%

MYH11
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 . 15811061 186.792 AC A,AT PASS 0/2 78 FRAME_SHIFT HIGH None None None None None None None NDE1|0.20927018|35.66%,MYH11|0.723905691|7.87%

OR10H5
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 . 15905504 258.548 CT C,CC PASS 1/2 30 FRAME_SHIFT HIGH None None None None None None None OR10H5|0.004746095|86.17%

HSH2D
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 rs5827321,rs398079755,rs398034064
dbSNP Clinvar 		16268207 409.513 TA T PASS 1/1 111 FRAME_SHIFT HIGH None 1.00000 1.00000 None None None None None None HSH2D|0.00157436|92.44%

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%

GMPR
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 rs759597692
dbSNP Clinvar 		16290829 83.791 C T PASS 0/1 46 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None GMPR|0.264027636|30.37%

EPHA2
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 rs2230597
dbSNP Clinvar 		16464673 86.0252 G A PASS 0/1 38 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.34944 0.34940 0.38879 None None None None None None EPHA2|0.768915771|6.62%

FAM134B
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 . 16475020 22.4156 TG T PASS 0/1 14 FRAME_SHIFT HIGH None None None None None None None FAM134B|0.118709498|47.64%

EPHA2
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 rs6678616
dbSNP Clinvar 		16475123 733.665 C T PASS 1/1 79 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.22644 0.22640 0.28495 None None None None None None EPHA2|0.768915771|6.62%
View tsvc_variants_ionxpress_001-5225 1 rs6678618
dbSNP Clinvar 		16475126 659.349 C T PASS 1/1 79 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.22664 0.22660 0.28487 None None None None None None EPHA2|0.768915771|6.62%

FBXO42
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 . 16577865 58.8599 CG C PASS 0/1 65 FRAME_SHIFT HIGH None None None None None None None FBXO42|0.247960415|31.72%

NWD1
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 rs113728633
dbSNP Clinvar 		16855433 94.4312 G T PASS 0/1 41 STOP_GAINED HIGH None 0.02336 0.02336 None None None None None None NWD1|0.007412041|83.12%

PADI2
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 rs3818032
dbSNP Clinvar 		17402255 91.0795 C T PASS 0/1 43 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.52596 0.52600 0.38490 None None None None None None PADI2|0.185823973|38.27%

GAB4
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 rs28502153
dbSNP Clinvar 		17469049 59.7512 C A PASS 0/1 47 STOP_GAINED HIGH None 0.35363 0.35360 0.33850 None None None None None None GAB4|0.003932508|87.14%

SCML2
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 X rs3213544
dbSNP Clinvar 		18342034 295.562 G A PASS 1/1 32 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.21378 0.21380 0.23535 None None None None None None SCML2|0.011157276|79.9%

PIK3C2G
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 rs35277916,rs796435817
dbSNP Clinvar 		18435398 41.4713 GCCC G,GCC PASS 0/1 52 FRAME_SHIFT HIGH None 0.30831 0.30830 0.34238 None None None None None None RERGL|0.064599802|58.71%,PIK3C2G|0.036855769|66.84%

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%

ALDH4A1
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 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%
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%

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%

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%

ACSM2A
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 . 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%

OR4K14
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 rs755283324
dbSNP Clinvar 		20482431 24.1016 TCA T PASS 0/1 50 FRAME_SHIFT HIGH None None None None None None None OR4K14|0.014815233|77.29%

ACSM2A
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 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%

PLA2G2C
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 rs12139100
dbSNP Clinvar 		20501582 101.613 G A PASS 0/1 42 STOP_GAINED HIGH None 0.24022 0.24020 0.19971 None None None None None None PLA2G2C|0.019385415|74.49%

OR4L1
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 rs112192573,rs33965693
dbSNP Clinvar 		20528448 50.0 TC... T PASS 0/1 108 FRAME_SHIFT HIGH None 0.53215 0.53210 None None None None None None OR4L1|0.011360474|79.72%

OR11G2
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 rs55781225,rs398077614,rs77164062
dbSNP Clinvar 		20666175 221.624 C CA PASS 1/1 63 FRAME_SHIFT HIGH None 0.30532 None None None None None None OR11G2|0.032970831|68.17%