Mendel,MD | Dashboard

+ 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 INHERITANCE:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:

VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
MUTATION TYPE:	CHR: POS:

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:
ABCA1, ABCA2, ACO1, ADAMTS13, ADAMTSL1, ADAMTSL2, AGPAT2, AIF1L, AK1, AKNA, AL445665.1, AL513478.1, ALAD, ALDH1B1, ANAPC2, ANKRD18A, ANKRD18B, ANKRD20A1, ANKRD20A2, ANKRD20A4, ANKS6, AQP3, AQP7, ARHGEF39, ARID3C, ARRDC1, ASB6, ASPN, ASS1, ASTN2, BAAT, BAG1, BRD3, BRINP1, BSPRY, BX088651.1, C5, C8G, C9orf114, C9orf116, C9orf117, C9orf129, C9orf131, C9orf147, C9orf152, C9orf171, C9orf172, C9orf173, C9orf24, C9orf3, C9orf43, C9orf57, C9orf66, C9orf69, C9orf72, C9orf84, C9orf96, CACFD1, CACNA1B, CARD9, CBWD1, CBWD3, CBWD6, CCBL1, CCDC107, CCDC171, CCDC180, CCDC183, CCIN, CDK20, CDK5RAP2, CEL, CER1, CERCAM, CNTLN, CNTNAP3, CNTNAP3B, CNTRL, COL27A1, COL5A1, COQ4, CR769776.1, CRAT, CRB2, CTSL, DAB2IP, DAPK1, DBH, DDX31, DDX58, DEC1, DENND1A, DENND4C, DFNB31, DMRT1, DMRT2, DMRT3, DNAJA1, DNM1, DOCK8, DPM2, DPP7, EGFL7, EHMT1, ENTPD8, EPB41L4B, EXD3, EXOSC3, FAM102A, FAM120A, FAM120AOS, FAM154A, FAM166B, FAM189A2, FAM205A, FAM214B, FAM221B, FAM27A, FAM27D1, FAM27E1, FAM27E2, FAM27E3, FAM69B, FAM78A, FBP1, FBP2, FBXO10, FCN1, FCN2, FGD3, FKBP15, FKTN, FNBP1, FOCAD, FOXD4, FOXD4L3, FOXD4L5, FOXD4L6, FOXE1, FREM1, FRMD3, FRMPD1, FXN, GABBR2, GALNT12, GAPVD1, GCNT1, GLE1, GLIS3, GLT6D1, GOLGA1, GPR107, GPR144, GPSM1, GRHPR, GRIN1, GRIN3A, GTF3C4, HAUS6, HEMGN, HMCN2, HRCT1, IFNB1, IFNK, IKBKAP, INPP5E, INVS, JAK2, KANK1, KCNT1, KCNV2, KDM4C, KIAA0020, KIAA0368, KIAA1161, KIAA1432, KIAA1958, KIAA2026, KIF24, KIF27, LAMC3, LCN12, LCN15, LHX2, LRRC19, LRRC8A, LRSAM1, LURAP1L, MAMDC2, MAMDC4, MAN1B1, MELK, MLLT3, MPDZ, MRPL50, MSANTD3, MUSK, MVB12B, NACC2, NAIF1, NANS, NEK6, NELFB, NINJ1, NIPSNAP3A, NMRK1, NOL6, NOTCH1, NOXA1, NPDC1, NPR2, NR4A3, NTMT1, NTNG2, NUP188, NUP214, NUTM2F, NUTM2G, NXNL2, OBP2A, OBP2B, ODF2, OLFM1, OLFML2A, OR13C2, OR13C5, OR13C8, OR13C9, OR13D1, OR13F1, OR13J1, OR1B1, OR1J1, OR1J2, OR1L1, OR1L4, OR1L6, OR1L8, OR1N1, OR1N2, OR1Q1, OR2K2, ORM1, ORM2, OSTF1, PALM2-AKAP2, PAPPA, PAX5, PCSK5, PDCD1LG2, PHF2, PIGO, PIP5KL1, PMPCA, PNPLA7, POLR1E, POMT1, PPAPDC3, PPP1R26, PPP2R4, PRDM12, PRRC2B, PRSS3, PRUNE2, PSMB7, PSMD5, PTCH1, PTGDS, PTGES2, PTGR1, PTGS1, PTPLAD2, PTPN3, PTPRD, QSOX2, RABL6, RAD23B, RALGDS, RALGPS1, RASEF, RC3H2, RCL1, REXO4, RGP1, RGS3, RLN1, RMI1, ROR2, RP11-146D12.2, RPL7A, RUSC2, SARDH, SCAI, SDCCAG3, SEC16A, SEMA4D, SETX, SH2D3C, SHB, SHC3, SLC1A1, SLC24A2, SLC25A25, SLC27A4, SLC2A6, SLC34A3, SLC46A2, SMC2, SMC5, SMU1, SNAPC4, SNX30, SOHLH1, SPAG8, SPATA31A3, SPATA31A6, SPATA31D1, SPATA31E1, SPATA6L, SPTAN1, STRBP, SURF2, SURF6, SVEP1, TAF1L, TBC1D2, TDRD7, TEK, TJP2, TLE1, TLE4, TLN1, TLR4, TMC1, TMEM141, TMEM2, TMEM261, TMEM8C, TNC, TNFSF8, TOMM5, TOPORS, TOR1B, TOR2A, TPD52L3, TRAF1, TRBV23OR9-2, TRIM14, TRPM3, TRPM6, TSC1, TSTD2, TTC16, TTC39B, TTF1, TUSC1, UAP1L1, UBAC1, UBAP2, UCK1, USP20, VAV2, VLDLR, VPS13A, WDR34, WDR38, WDR5, WNK2, ZBTB43, ZBTB5, ZCCHC6, ZCCHC7, ZDHHC12, ZFAND5, ZFP37, ZNF189, ZNF462, ZNF618, ZNF658, ZNF79,

+ Genes associated with diseases 84

Genes at Omim

ABCA1, ADAMTS13, ADAMTSL2, AGPAT2, AK1, ALAD, ANKS6, AQP3, AQP7, ASPN, ASS1, BAAT, C5, C9orf72, CACNA1B, CARD9, CDK5RAP2, CEL, COL27A1, COL5A1, COQ4, CRAT, CRB2, DBH, DDX58, DNM1, DOCK8, DPM2, EHMT1, EXOSC3, FBP1, FKTN, FOXE1, FREM1, FXN, GABBR2, GALNT12, GLE1, GLIS3, GRHPR, GRIN1, IKBKAP, INPP5E, INVS, JAK2, KANK1, KCNT1, KCNV2, LAMC3, LRRC8A, LRSAM1, MAN1B1, MPDZ, MUSK, NANS, NOTCH1, NPR2, NUP214, PAX5, PIGO, PMPCA, POMT1, PRDM12, PTCH1, ROR2, RUSC2, SARDH, SETX, SLC1A1, SLC27A4, SLC34A3, SOHLH1, SPTAN1, TDRD7, TEK, TJP2, TMC1, TNC, TOPORS, TRPM6, TSC1, VLDLR, VPS13A, WDR34,

ABCA1	HDL deficiency, type 2, 604091 (3) Tangier disease, 205400 (3) {Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3)
ADAMTS13	Thrombotic thrombocytopenic purpura, familial, 274150 (3)
ADAMTSL2	Geleophysic dysplasia 1, 231050 (3)
AGPAT2	Lipodystrophy, congenital generalized, type 1, 608594 (3)
AK1	Hemolytic anemia due to adenylate kinase deficiency, 612631 (3)
ALAD	{Lead poisoning, susceptibility to}, 612740 (3) Porphyria, acute hepatic, 612740 (3)
ANKS6	Nephronophthisis 16, 615382 (3)
AQP3	[Blood group GIL], 607457 (3)
AQP7	[Glycerol quantitative trait locus], 614411 (3)
ASPN	{Lumbar disc degeneration}, 603932 (3) {Osteoarthritis susceptibility 3}, 607850 (3)
ASS1	Citrullinemia, 215700 (3)
BAAT	Hypercholanemia, familial, 607748 (3)
C5	C5 deficiency, 609536 (3) [Eculizumab, poor response to], 615749 (3)
C9orf72	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 (3)
CACNA1B	?Dystonia 23, 614860 (3)
CARD9	Candidiasis, familial, 2, autosomal recessive, 212050 (3)
CDK5RAP2	Microcephaly 3, primary, autosomal recessive, 604804 (3)
CEL	Maturity-onset diabetes of the young, type VIII, 609812 (3)
COL27A1	Steel syndrome, 615155 (3)
COL5A1	Ehlers-Danlos syndrome, classic type, 1, 130000 (3)
COQ4	Coenzyme Q10 deficiency, primary, 7, 616276 (3)
CRAT	?Neurodegeneration with brain iron accumulation 8, 617917 (3)
CRB2	Focal segmental glomerulosclerosis 9, 616220 (3) Ventriculomegaly with cystic kidney disease, 219730 (3)
DBH	Orthostatic hypotension 1, due to DBH deficiency, 223360 (3)
DDX58	Singleton-Merten syndrome 2, 616298 (3)
DNM1	Epileptic encephalopathy, early infantile, 31, 616346 (3)
DOCK8	Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
DPM2	Congenital disorder of glycosylation, type Iu, 615042 (3)
EHMT1	Kleefstra syndrome 1, 610253 (3)
EXOSC3	Pontocerebellar hypoplasia, type 1B, 614678 (3)
FBP1	Fructose-1,6-bisphosphatase deficiency, 229700 (3)
FKTN	Cardiomyopathy, dilated, 1X, 611615 (3) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3) Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152 (3) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 (3)
FOXE1	Bamforth-Lazarus syndrome, 241850 (3) {Thyroid cancer, nonmedullary, 4}, 616534 (3)
FREM1	Bifid nose with or without anorectal and renal anomalies, 608980 (3) Manitoba oculotrichoanal syndrome, 248450 (3) Trigonocephaly 2, 614485 (3)
FXN	Friedreich ataxia with retained reflexes, 229300 (3) Friedreich ataxia, 229300 (3)
GABBR2	{Nicotine dependence, protection against}, 188890 (3) {Nicotine dependence, susceptibility to}, 188890 (3) Epileptic encephalopathy, early infantile, 59, 617904 (3) Neurodevelopmental disorder with poor language and loss of hand skills, 617903 (3)
GALNT12	{Colorectal cancer, susceptibility to, 1}, 608812 (3)
GLE1	Congenital arthrogryposis with anterior horn cell disease, 611890 (3) Lethal congenital contracture syndrome 1, 253310 (3)
GLIS3	Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)
GRHPR	Hyperoxaluria, primary, type II, 260000 (3)
GRIN1	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 (3) Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820 (3)
IKBKAP	Dysautonomia, familial, 223900 (3)
INPP5E	Joubert syndrome 1, 213300 (3) Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)
INVS	Nephronophthisis 2, infantile, 602088 (3)
JAK2	Leukemia, acute myeloid, somatic, 601626 (3) Erythrocytosis, somatic, 133100 (3) Myelofibrosis, somatic, 254450 (3) Polycythemia vera, somatic, 263300 (3) Thrombocythemia 3, 614521 (3) {Budd-Chiari syndrome, somatic}, 600880 (3)
KANK1	Cerebral palsy, spastic quadriplegic, 2, 612900 (3)
KCNT1	Epilepsy, nocturnal frontal lobe, 5, 615005 (3) Epileptic encephalopathy, early infantile, 14, 614959 (3)
KCNV2	Retinal cone dystrophy 3B, 610356 (3)
LAMC3	Cortical malformations, occipital, 614115 (3)
LRRC8A	?Agammaglobulinemia 5, 613506 (3)
LRSAM1	Charcot-Marie-Tooth disease, axonal, type 2P, 614436 (3)
MAN1B1	Mental retardation, autosomal recessive 15, 614202 (3)
MPDZ	Hydrocephalus, congenital, 2, with or without brain or eye anomalies, 615219 (3)
MUSK	Fetal akinesia deformation sequence, 208150 (3) Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3)
NANS	Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 (3)
NOTCH1	Adams-Oliver syndrome 5, 616028 (3) Aortic valve disease 1, 109730 (3)
NPR2	Epiphyseal chondrodysplasia, Miura type, 615923 (3) Acromesomelic dysplasia, Maroteaux type, 602875 (3) Short stature with nonspecific skeletal abnormalities, 616255 (3)
NUP214	Leukemia, T-cell acute lymphoblastic, somatic, 613065 (3) Leukemia, acute myeloid, somatic, 601626 (3)
PAX5	{Leukemia, acute lymphoblastic, susceptibility to, 3}, 615545 (3)
PIGO	Hyperphosphatasia with mental retardation syndrome 2, 614749 (3)
PMPCA	Spinocerebellar ataxia, autosomal recessive 2, 213200 (3)
POMT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3)
PRDM12	Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3)
PTCH1	Basal cell carcinoma, somatic, 605462 (3) Basal cell nevus syndrome, 109400 (3) Holoprosencephaly 7, 610828 (3)
ROR2	Brachydactyly, type B1, 113000 (3) Robinow syndrome, autosomal recessive, 268310 (3)
RUSC2	Mental retardation, autosomal recessive 61, 617773 (3)
SARDH	[Sarcosinemia], 268900 (3)
SETX	Amyotrophic lateral sclerosis 4, juvenile, 602433 (3) Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)
SLC1A1	Dicarboxylic aminoaciduria, 222730 (3) {?Schizophrenia susceptibility 18}, 615232 (3)
SLC27A4	Ichthyosis prematurity syndrome, 608649 (3)
SLC34A3	Hypophosphatemic rickets with hypercalciuria, 241530 (3)
SOHLH1	Ovarian dysgenesis 5, 617690 (3) Spermatogenic failure 32, 618115 (3)
SPTAN1	Epileptic encephalopathy, early infantile, 5, 613477 (3)
TDRD7	Cataract 36, 613887 (3)
TEK	Glaucoma 3, primary congenital, E, 617272 (3) Venous malformations, multiple cutaneous and mucosal, 600195 (3)
TJP2	Cholestasis, progressive familial intrahepatic 4, 615878 (3) Hypercholanemia, familial, 607748 (3)
TMC1	Deafness, autosomal dominant 36, 606705 (3) Deafness, autosomal recessive 7, 600974 (3)
TNC	Deafness, autosomal dominant 56, 615629 (3)
TOPORS	Retinitis pigmentosa 31, 609923 (3)
TRPM6	Hypomagnesemia 1, intestinal, 602014 (3)
TSC1	Focal cortical dysplasia, type II, somatic, 607341 (3) Lymphangioleiomyomatosis, 606690 (3) Tuberous sclerosis-1, 191100 (3)
VLDLR	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3)
VPS13A	Choreoacanthocytosis, 200150 (3)
WDR34	Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)

Genes at Clinical Genomics Database

ABCA1, ADAMTS13, ADAMTSL2, AGPAT2, AK1, ALAD, ANKS6, AQP3, ASS1, BAAT, C5, CACNA1B, CARD9, CDK5RAP2, CEL, COL27A1, COL5A1, COQ4, CRB2, DBH, DDX58, DNM1, DOCK8, DPM2, EHMT1, EXOSC3, FBP1, FKTN, FOXE1, FREM1, FXN, GALNT12, GLE1, GLIS3, GRHPR, GRIN1, IKBKAP, INPP5E, INVS, JAK2, KANK1, KCNT1, KCNV2, LAMC3, LRRC8A, LRSAM1, MAN1B1, MPDZ, MUSK, NOTCH1, NPR2, PAX5, PIGO, PMPCA, POMT1, PRDM12, PTCH1, ROR2, SETX, SLC1A1, SLC27A4, SLC34A3, SPTAN1, TDRD7, TEK, TJP2, TMC1, TNC, TOPORS, TRPM6, TSC1, VLDLR, VPS13A, WDR34,

ABCA1	ABCA1 deficiency Tangier disease HDL deficiency, type 2
ADAMTS13	Thrombotic thrombocytopenic purpura, familial Schulman-Upshaw syndrome
ADAMTSL2	Geleophysic dysplasia 1
AGPAT2	Lipodystrophy, congenital generalized, type 1
AK1	Adenylate kinase deficiency, hemolytic anemia due to
ALAD	Porphyria, acute hepatic
ANKS6	Nephronophthisis 16
AQP3	Blood group, GIL
ASS1	Citrullinemia
BAAT	Hypercholanemia, familial
C5	Eculizumab, poor response to Complement component 5 deficiency
CACNA1B	Dystonia 23
CARD9	Candidiasis, familial, 2
CDK5RAP2	Microcephaly, primary autosomal recessive, 3
CEL	Maturity-onset diabetes of the young, type 8
COL27A1	Steel syndrome
COL5A1	Ehlers-Danlos syndrome, type I Ehlers-Danlos syndrome, type II
COQ4	Coenzyme Q10 deficiency 7
CRB2	Focal segmental glomerulosclerosis 9 Ventriculomegaly with cystic kidney disease
DBH	Dopamine beta-hydroxylase deficiency
DDX58	Singleton-Merten syndrome 2
DNM1	Epileptic encephalopathy, early infantile 31
DOCK8	Hyper-IgE recurrent infection syndrome, autosomal recessive
DPM2	Congenital disorder of glycosylation, type Iu
EHMT1	Kleefstra syndrome
EXOSC3	Pontocerebellar hypoplasia type 1B
FBP1	Fructose-1,6-bisphosphatase deficiency
FKTN	Cardiomyopathy, dilated, 1X Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4
FOXE1	Thyroid cancer, nonmedullary 4 Hypothyroidism, thyroidal, with spiky hair and cleft palate (Bamforth-Lazarus syndrome) Congenital hypothyroidism
FREM1	Bifid nose with or without anorectal and renal anomalies Trigonocephaly 2 Manitoba oculotrichoanal syndrome Congenital diaphragmatic hernia, autosomal recessive
FXN	Friedreich ataxia
GALNT12	Colorectal cancer, susceptibility to, 1
GLE1	Arthrogryposis, lethal, with anterior horn cell disease Lethal congenital contracture syndrome 1
GLIS3	Diabetes mellitus, neonatal, with congenital hypothyroidism
GRHPR	Hyperoxaluria, primary, type II
GRIN1	Mental retardation, autosomal dominant 8
IKBKAP	Dysautonomia, familial
INPP5E	Joubert syndrome 1 Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)
INVS	Nephronophthisis 2
JAK2	Thrombocythemia 3
KANK1	Cerebral palsy, spastic quadriplegic, 2
KCNT1	Epilepsy, nocturnal frontal lobe, 5 Early infantile epileptic encephalopathy 14
KCNV2	Retinal cone dystrophy 3B
LAMC3	Cortical malformations, occipital
LRRC8A	Agammaglobulinemia 5
LRSAM1	Charcot-Marie-Tooth disease, axonal, type 2P
MAN1B1	Mental retardation, autosomal recessive 15
MPDZ	Hydrocephalus, nonsyndromic, autosomal recessive 2
MUSK	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
NOTCH1	Aortic valve disease
NPR2	Epiphyseal chondrodysplasia, Miura type Short stature with nonspecific skeletal abnormalities Acromesomelic dysplasia, Maroteaux type
PAX5	Pre-B cell acute lymphoblastic leukemia
PIGO	Hyperphosphatasia with mental retardation syndrome 2
PMPCA	Spinocerebellar ataxia, autosomal recessive 2
POMT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
PRDM12	Neuropathy, hereditary sensory and autonomic, type VIII
PTCH1	Basal cell nevus syndrome
ROR2	Robinow syndrome, autosomal recessive Brachydactyly, type B1
SETX	Spinocerebellar ataxia, autosomal recessive 1 Amyotrophic lateral sclerosis 4, juvenile Ataxia with oculomotor apraxia, type 2
SLC1A1	Dicarboxylic aminoaciduria
SLC27A4	Ichthyosis prematurity syndrome
SLC34A3	Hypophosphatemic rickets with hypercalciuria, hereditary
SPTAN1	Epileptic encephalopathy, early infantile, 5
TDRD7	Cataract, autosomal recessive congenital 4
TEK	Venous malformations, multiple cutaneous and mucosal
TJP2	Hypercholanemia, familial Cholestasis, progressive familial intrahepatic 4
TMC1	Deafness, autosomal recessive 7
TNC	Deafness, autosomal dominant 56
TOPORS	Retitinis pigmentosa 31
TRPM6	Hypomagnesemia 1, intestinal
TSC1	Tuberous sclerosis Lymphangioleiomyomatosis
VLDLR	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
VPS13A	Choreoacanthocytosis
WDR34	Short -rib thoracic dysplasia 11 with or without polydactyly

Genes at HGMD

Summary

Number of Variants: 6794
Number of Genes: 380

Export to: CSV

Page 1 of 68
next

Page 1 of 68
next

ABCA1
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	gordonsepilepsy normalized 2077	9	rs2230808 dbSNP Clinvar	107562804	15386.7	T	C	.	1/1	55	NON_SYNONYMOUS_CODING	MODERATE	None	0.53834	0.53830	0.41496	0.61	0.09		None None	None None None None	ABCA1\|0.668333708\|9.43%
ABCA2
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	gordonsepilepsy normalized 2077	9	rs2271862 dbSNP Clinvar	139906359	10508.2	G	A	.	1/1	10	SYNONYMOUS_CODING	LOW	None	0.68730	0.68730	0.32231				None None	None None None None	ABCA2\|0.074227496\|56.47%
	View	gordonsepilepsy normalized 2077	9	rs4880189 dbSNP Clinvar	139923265	4282.7	A	G	.	0/1	4	None	None	None	0.76657	0.76660	0.22882				None None	None None None None	ABCA2\|0.074227496\|56.47%,C9orf139\|0.000737675\|97.09%
	View	gordonsepilepsy normalized 2077	9	rs908828 dbSNP Clinvar	139913239	6366.68	T	G	.	1/1	17	NON_SYNONYMOUS_CODING	MODERATE	None	1.00000	1.00000	0.00008	1.00	0.00		None None	None None None None	ABCA2\|0.074227496\|56.47%
	View	gordonsepilepsy normalized 2077	9	rs908832 dbSNP Clinvar	139912484	15244.7	A	G	.	1/1	13	SYNONYMOUS_CODING	LOW	None	0.96386	0.96390	0.03809				None None	None None None None	ABCA2\|0.074227496\|56.47%
	View	gordonsepilepsy normalized 2077	9	rs7048567 dbSNP Clinvar	139904037	13914.2	A	G	.	1/1	27	SYNONYMOUS_CODING	LOW	None	0.72005	0.72000	0.29152				None None	None None None None	ABCA2\|0.074227496\|56.47%
ACO1
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	gordonsepilepsy normalized 2077	9	rs3780473 dbSNP Clinvar	32425910	13361.5	A	G	.	0/1	28	SYNONYMOUS_CODING	LOW	None	0.35383	0.35380	0.32693				None None	None None None None	ACO1\|0.412115925\|20.03%
ADAMTS13
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	gordonsepilepsy normalized 2077	9	rs2301612 dbSNP Clinvar	136301982	3675.74	C	G	.	1/1	3	NON_SYNONYMOUS_CODING	MODERATE	None	0.27157	0.27160	0.30130	1.00	0.00		None None	None None None None	ADAMTS13\|0.009367264\|81.4%
	View	gordonsepilepsy normalized 2077	9	.	136321305	3755.92	G	T	.	0/1	26	NON_SYNONYMOUS_CODING	MODERATE	None				0.04	0.12		None None	None None None None	ADAMTS13\|0.009367264\|81.4%
	View	gordonsepilepsy normalized 2077	9	rs34934621 dbSNP Clinvar	136319600	2318.92	G	A	.	0/1	22	SYNONYMOUS_CODING	LOW	None	0.01757	0.01757	0.03652				None None	None None None None	ADAMTS13\|0.009367264\|81.4%
	View	gordonsepilepsy normalized 2077	9	rs34024143 dbSNP Clinvar	136287582	5072.7	C	T	.	0/1	38	NON_SYNONYMOUS_CODING	MODERATE	None	0.05272	0.05272	0.09988	0.06	0.00		None None	None None None None	ADAMTS13\|0.009367264\|81.4%
	View	gordonsepilepsy normalized 2077	9	rs28571612 dbSNP Clinvar	136290672	3503.7	G	A	.	0/1	13	SYNONYMOUS_CODING	LOW	None	0.02596	0.02596	0.06020				None None	None None None None	ADAMTS13\|0.009367264\|81.4%
	View	gordonsepilepsy normalized 2077	9	rs28647808 dbSNP Clinvar	136305530	7365.7	C	G	.	0/1	15	NON_SYNONYMOUS_CODING	MODERATE	None	0.03235	0.03235	0.06313	0.00	0.48		None None	None None None None	ADAMTS13\|0.009367264\|81.4%
	View	gordonsepilepsy normalized 2077	9	rs3118667 dbSNP Clinvar	136291063	9665.7	C	T	.	0/1	16	SYNONYMOUS_CODING	LOW	None	0.58187	0.58190	0.48355				None None	None None None None	ADAMTS13\|0.009367264\|81.4%
	View	gordonsepilepsy normalized 2077	9	rs34054981 dbSNP Clinvar	136291361	9032.7	C	T	.	0/1	29	SYNONYMOUS_CODING	LOW	None	0.02776	0.02776	0.06213				None None	None None None None	ADAMTS13\|0.009367264\|81.4%
ADAMTSL1
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	gordonsepilepsy normalized 2077	9	rs7033684 dbSNP Clinvar	18777368	17105.2	T	C	.	0/1	17	SYNONYMOUS_CODING	LOW	None	0.68930	0.68930	0.28568			2.02	0.02 0.48065 T	None None None None	ADAMTSL1\|0.674544897\|9.24%
	View	gordonsepilepsy normalized 2077	9	rs2277160 dbSNP Clinvar	18504916	3744.71	T	A	.	1/1	10	SYNONYMOUS_CODING	LOW	None	0.57089	0.57090	0.40643				None None	None None None None	ADAMTSL1\|0.674544897\|9.24%
	View	gordonsepilepsy normalized 2077	9	rs1549986 dbSNP Clinvar	18776840	13462.7	A	C	.	1/1	8	SYNONYMOUS_CODING	LOW	None	0.97205	0.97200	0.06223			1.80	0.02 0.46793 T	None None None None	ADAMTSL1\|0.674544897\|9.24%
	View	gordonsepilepsy normalized 2077	9	rs45579937 dbSNP Clinvar	18777422	8444.7	G	A	.	0/1	14	SYNONYMOUS_CODING	LOW	None	0.10004	0.10000	0.14728				None None	None None None None	ADAMTSL1\|0.674544897\|9.24%
	View	gordonsepilepsy normalized 2077	9	rs35525189,rs796576662 dbSNP Clinvar	18826261	13875.7	GT	G	.	1/1	46	None	None	None							None None	None None None None	ADAMTSL1\|0.674544897\|9.24%
ADAMTSL2
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	gordonsepilepsy normalized 2077	9	rs2073875 dbSNP Clinvar	136412236	37542.7	A	T	.	1/1	157	SYNONYMOUS_CODING	LOW	None	0.72464	0.72460	0.12448				None None	None None None None	ADAMTSL2\|0.0506365\|62.46%
	View	gordonsepilepsy normalized 2077	9	rs2073876 dbSNP Clinvar	136412255	33490.7	A	C	.	1/1	142	SYNONYMOUS_CODING	LOW	None	0.72464	0.72460	0.12440				None None	None None None None	ADAMTSL2\|0.0506365\|62.46%
	View	gordonsepilepsy normalized 2077	9	rs2073874 dbSNP Clinvar	136412170	30800.7	C	T	.	1/1	152	SYNONYMOUS_CODING	LOW	None	0.72404	0.72400	0.12464				None None	None None None None	ADAMTSL2\|0.0506365\|62.46%
AGPAT2
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	gordonsepilepsy normalized 2077	9	rs768646064 dbSNP Clinvar	139581758	3548.22	C	CCAG	.	0/1	6	CODON_INSERTION	MODERATE	None	0.04892	0.04892					None None	None None None None	AGPAT2\|0.018792809\|74.8%
AIF1L
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	gordonsepilepsy normalized 2077	9	rs2315075 dbSNP Clinvar	133981629	1006.93	T	C	.	0/1	11	NON_SYNONYMOUS_CODING	MODERATE	None	0.26058	0.26060		0.52	0.00		None None	None None None None	AIF1L\|0.265763061\|30.2%
AK1
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	gordonsepilepsy normalized 2077	9	rs913986 dbSNP Clinvar	130630639	3856.79	A	G	.	1/1	9	SYNONYMOUS_CODING	LOW	None	0.99820	0.99820	0.00185			4.11	0.02 0.38414 T	None None None None	AK1\|0.26080806\|30.67%
AKNA
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	gordonsepilepsy normalized 2077	9	rs3748177 dbSNP Clinvar	117122202	12051.9	C	T	.	0/1	36	SYNONYMOUS_CODING	LOW	None	0.38998	0.39000	0.41865				None None	None None None None	AKNA\|0.005369534\|85.34%
	View	gordonsepilepsy normalized 2077	9	rs3748176 dbSNP Clinvar	117124731	6033.93	G	A	.	0/1	16	NON_SYNONYMOUS_CODING	MODERATE	None	0.38419	0.38420	0.41504	0.01	0.03		None None	None None None None	AKNA\|0.005369534\|85.34%
	View	gordonsepilepsy normalized 2077	9	.	117139491	7341.5	C	A	.	0/1	42	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.94		None None	None None None None	AKNA\|0.005369534\|85.34%
AL445665.1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	gordonsepilepsy normalized 2077	9	rs879189439 dbSNP Clinvar	69653115	60.35	A	G	.	0/1	10	NON_SYNONYMOUS_CODING	MODERATE	None				0.01	1.00		None None	None None None None	None
AL513478.1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	gordonsepilepsy normalized 2077	9	rs201093290 dbSNP Clinvar	43135183	92.05	C	T	.	0/1	11	NON_SYNONYMOUS_CODING	MODERATE	None	0.11102	0.11100			0.69		None None	None None None None	None
ALAD
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	gordonsepilepsy normalized 2077	9	rs1800435 dbSNP Clinvar	116153891	6675.92	C	G	.	0/1	17	NON_SYNONYMOUS_CODING	MODERATE	None	0.06350	0.06350	0.06020	1.00	0.00		None None	None None None None	ALAD\|0.24202063\|32.28%
	View	gordonsepilepsy normalized 2077	9	rs1139488 dbSNP Clinvar	116153900	8737.54	A	G	.	0/1	16	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None	0.35224	0.35220	0.35422				None None	None None None None	ALAD\|0.24202063\|32.28%
	View	gordonsepilepsy normalized 2077	9	rs8177807 dbSNP Clinvar	116152891	7767.5	A	G	.	0/1	9	SYNONYMOUS_CODING	LOW	None	0.08906	0.08906	0.08250				None None	None None None None	ALAD\|0.24202063\|32.28%
	View	gordonsepilepsy normalized 2077	9	rs2228083 dbSNP Clinvar	116152940	7327.51	G	A	.	0/1	7	SYNONYMOUS_CODING	LOW	None	0.07867	0.07867	0.08204				None None	None None None None	ALAD\|0.24202063\|32.28%
ALDH1B1
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	gordonsepilepsy normalized 2077	9	rs2228094 dbSNP Clinvar	38395940	10905.7	T	C	.	0/1	34	SYNONYMOUS_CODING	LOW	None	0.93670	0.93670	0.07919				None None	None None None None	ALDH1B1\|0.096225216\|51.9%
	View	gordonsepilepsy normalized 2077	9	rs4878199 dbSNP Clinvar	38396502	5766.7	G	A	.	0/1	32	NON_SYNONYMOUS_CODING	MODERATE	None	0.93850	0.93850	0.07812	1.00	0.00		None None	None None None None	ALDH1B1\|0.096225216\|51.9%
ANAPC2
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	gordonsepilepsy normalized 2077	9	rs11549105 dbSNP Clinvar	140077639	3794.5	G	A	.	0/1	33	SYNONYMOUS_CODING	LOW	None	0.10204	0.10200	0.18807				None None	None None None None	ANAPC2\|0.117211115\|47.91%
ANKRD18A
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	gordonsepilepsy normalized 2077	9	rs1832313 dbSNP Clinvar	38615698	1751.02	C	T	.	0/1	86	NON_SYNONYMOUS_CODING	MODERATE	None	0.42173	0.42170	0.41984	1.00	0.00	4.53	0.00 0.06282 T	None None None None	ANKRD18A\|0.001240448\|94.24%
ANKRD18B
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	gordonsepilepsy normalized 2077	9	rs41304751 dbSNP Clinvar	33548175	2724.17	T	C	.	0/1	61	SYNONYMOUS_CODING	LOW	None	0.08666	0.08666					None None	None None None None	ANKRD18B\|0.001295646\|93.93%
	View	gordonsepilepsy normalized 2077	9	rs4141844 dbSNP Clinvar	33566370	1204.17	A	G	.	0/1	71	NON_SYNONYMOUS_CODING	MODERATE	None				1.00	0.00	2.49	0.01 0.33652 T	None None None None	ANKRD18B\|0.001295646\|93.93%
	View	gordonsepilepsy normalized 2077	9	rs62559879 dbSNP Clinvar	33566234	965.17	C	T	.	0/1	47	SYNONYMOUS_CODING	LOW	None	0.15955	0.15950					None None	None None None None	ANKRD18B\|0.001295646\|93.93%
	View	gordonsepilepsy normalized 2077	9	rs7032174 dbSNP Clinvar	33568687	8607.92	T	A	.	0/1	76	SYNONYMOUS_CODING	LOW	None	0.14317	0.14320					None None	None None None None	ANKRD18B\|0.001295646\|93.93%
	View	gordonsepilepsy normalized 2077	9	rs10971566 dbSNP Clinvar	33568789	2367.17	T	G	.	0/1	105	SYNONYMOUS_CODING	LOW	None	0.19968	0.19970					None None	None None None None	ANKRD18B\|0.001295646\|93.93%
	View	gordonsepilepsy normalized 2077	9	rs7853994 dbSNP Clinvar	33572347	1124.17	T	C	.	0/1	88	NON_SYNONYMOUS_CODING	MODERATE	None	0.19409	0.19410		0.27	0.49		None None	None None None None	ANKRD18B\|0.001295646\|93.93%
	View	gordonsepilepsy normalized 2077	9	rs3843933 dbSNP Clinvar	33524684	2902.7	G	A	.	1/1	15	NON_SYNONYMOUS_CODING	MODERATE	None	0.75320	0.75320		1.00	0.92		None None	None None None None	ANKRD18B\|0.001295646\|93.93%
ANKRD20A1
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	gordonsepilepsy normalized 2077	9	rs28618293 dbSNP Clinvar	67934804	314.38	T	A	.	0/1	56	NON_SYNONYMOUS_CODING	MODERATE	None	0.36062	0.36060		0.18	0.00		None None	None None None None	ANKRD20A1\|0.001623081\|92.24%
	View	gordonsepilepsy normalized 2077	9	rs202214101 dbSNP Clinvar	67934748	74.33	C	T	.	0/1	58	NON_SYNONYMOUS_CODING	MODERATE	None				0.03	0.06		None None	None None None None	ANKRD20A1\|0.001623081\|92.24%
	View	gordonsepilepsy normalized 2077	9	rs199656293 dbSNP Clinvar	67938655	52.37	T	C	.	0/1	33	NON_SYNONYMOUS_CODING	MODERATE	None				0.57	0.00		None None	None None None None	ANKRD20A1\|0.001623081\|92.24%
	View	gordonsepilepsy normalized 2077	9	rs200133066 dbSNP Clinvar	67934749	74.33	T	C	.	0/1	56	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ANKRD20A1\|0.001623081\|92.24%
	View	gordonsepilepsy normalized 2077	9	rs62542472 dbSNP Clinvar	67968476	2915.38	C	T	.	0/1	175	NON_SYNONYMOUS_CODING	MODERATE	None				0.04	0.00		None None	None None None None	ANKRD20A1\|0.001623081\|92.24%
	View	gordonsepilepsy normalized 2077	9	rs201807056 dbSNP Clinvar	67938651	52.37	G	C	.	0/1	31	NON_SYNONYMOUS_CODING	MODERATE	None				0.63	0.00		None None	None None None None	ANKRD20A1\|0.001623081\|92.24%
ANKRD20A2
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	gordonsepilepsy normalized 2077	9	rs77881930 dbSNP Clinvar	42368549	161.18	C	T	.	0/1	40	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ANKRD20A3\|0.001944577\|91.12%,ANKRD20A2\|0.001339079\|93.66%
ANKRD20A4
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	gordonsepilepsy normalized 2077	9	rs78815814 dbSNP Clinvar	69423641	681.38	T	G	.	0/1	138	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.09		None None	None None None None	ANKRD20A4\|0.002453356\|89.79%
ANKS6
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	gordonsepilepsy normalized 2077	9	rs6415847 dbSNP Clinvar	101533220	9864.68	C	T	.	1/1	11	NON_SYNONYMOUS_CODING	MODERATE	None	0.87520	0.87520	0.03696	0.99	0.00		None None	None None None None	ANKS6\|0.10473239\|50.29%
AQP3
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	gordonsepilepsy normalized 2077	9	rs2228332 dbSNP Clinvar	33442952	5134.92	G	A	.	0/1	47	SYNONYMOUS_CODING	LOW	None	0.65875	0.65870	0.35999			1.72	0.01 0.35474 T	None None None None	AQP3\|0.497451011\|15.96%
	View	gordonsepilepsy normalized 2077	9	rs591810 dbSNP Clinvar	33447424	12089.0	C	G	.	1/1	3	SYNONYMOUS_CODING	LOW	None	0.74121	0.74120	0.25759				None None	None None None None	AQP3\|0.497451011\|15.96%
AQP7
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	gordonsepilepsy normalized 2077	9	rs4008658 dbSNP Clinvar	33387047	3195.44	T	G	.	0/1	125	NON_SYNONYMOUS_CODING	MODERATE	None				0.29	0.01		None None	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs4080365 dbSNP Clinvar	33391479	332.5	G	A	.	0/1	25	None	None	None	0.50519	0.50520					None None	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs73645276 dbSNP Clinvar	33387073	2243.38	G	A	.	0/1	98	SYNONYMOUS_CODING	LOW	None	0.00020	0.00020					None None	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs73645286 dbSNP Clinvar	33395216	410.95	T	G	.	0/1	22	None	None	None				0.00	0.28		None None	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs642636 dbSNP Clinvar	33395196	9321.68	A	G	.	1/1	24	None	None	None	0.99082	0.99080	0.00692				None None	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs76863051 dbSNP Clinvar	33387004	4275.41	T	C	.	0/1	180	SYNONYMOUS_CODING	LOW	None							None None	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs74557595 dbSNP Clinvar	33385287	83.3	T	C	.	0/1	87	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None				0.15	0.00		None None	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs77244521 dbSNP Clinvar	33386989	4370.41	C	G	.	0/1	188	SYNONYMOUS_CODING	LOW	None							None None	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs117066088 dbSNP Clinvar	33385600	1107.76	G	A	.	0/1	68	None	None	None				0.00	0.00		None None	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs145413647 dbSNP Clinvar	33385602	1107.76	A	C	.	0/1	70	None	None	None							None None	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs140943510 dbSNP Clinvar	33385603	1110.76	C	T	.	0/1	70	None	None	None				0.00	0.00		None None	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs79779983 dbSNP Clinvar	33385667	446.07	A	G	.	0/1	81	SYNONYMOUS_CODING	LOW	None							None None	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs139024279 dbSNP Clinvar	33385690	133.25	G	T	.	0/1	80	NON_SYNONYMOUS_CODING	MODERATE	None		0.00020		0.03	0.46		None None	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs145516206 dbSNP Clinvar	33385698	143.45	A	G	.	0/1	77	NON_SYNONYMOUS_CODING	MODERATE	None				0.02	0.06		None None	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs116294914 dbSNP Clinvar	33385709	65.69	C	T	.	0/1	72	SYNONYMOUS_CODING	LOW	None	0.00020	0.00020					None None	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs115575789 dbSNP Clinvar	33385712	74.69	G	A	.	0/1	69	SYNONYMOUS_CODING	LOW	None						6.81	0.05 0.62529 D	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs114937176 dbSNP Clinvar	33385784	351.2	C	G	.	0/1	53	NON_SYNONYMOUS_CODING	MODERATE	None				0.03	0.20		None None	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs76908057 dbSNP Clinvar	33385786	348.78	C	G	.	0/1	54	NON_SYNONYMOUS_CODING	MODERATE	None				1.00	0.01	2.54	None None	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs62542744 dbSNP Clinvar	33385808	224.49	G	T	.	0/1	56	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	1.00		None None	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs62542745 dbSNP Clinvar	33385815	221.49	T	C	.	0/1	62	NON_SYNONYMOUS_CODING	MODERATE	None				0.20	0.06		None None	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs73478963 dbSNP Clinvar	33385828	362.92	C	T	.	0/1	59	NON_SYNONYMOUS_CODING	MODERATE	None	0.00100	0.00100		0.02	0.33		None None	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs202183465 dbSNP Clinvar	33385852	274.53	C	T	.	0/1	51	NON_SYNONYMOUS_CODING	MODERATE	None				0.02	0.08		None None	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs62542746 dbSNP Clinvar	33385863	668.76	G	T	.	0/1	42	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None				0.05	0.01		None None	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs76209395 dbSNP Clinvar	33386144	2624.72	G	A	.	0/1	57	SYNONYMOUS_CODING	LOW	None						4.77	0.04 0.59886 D	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs76608797 dbSNP Clinvar	33386146	2624.72	C	A	.	0/1	58	NON_SYNONYMOUS_CODING	MODERATE	None		0.00020		0.08	0.01		None None	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs79172651 dbSNP Clinvar	33386167	2783.72	G	C	.	0/1	66	NON_SYNONYMOUS_CODING	MODERATE	None		0.00020		1.00	0.00		None None	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs74589499 dbSNP Clinvar	33386430	482.57	C	T	.	0/1	55	SYNONYMOUS_CODING	LOW	None							None None	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs74668961 dbSNP Clinvar	33386465	2424.72	A	G	.	0/1	85	NON_SYNONYMOUS_CODING	MODERATE	None				0.02	0.41		None None	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs78695486 dbSNP Clinvar	33386469	2579.72	C	T	.	0/1	90	SYNONYMOUS_CODING	LOW	None	0.00040	0.00040					None None	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs77962308 dbSNP Clinvar	33386510	4319.72	C	T	.	0/1	123	NON_SYNONYMOUS_CODING	MODERATE	None				1.00	0.01		None None	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs72707424 dbSNP Clinvar	33386511	4340.72	A	G	.	0/1	124	SYNONYMOUS_CODING	LOW	None							None None	None None None None	AQP7\|0.012677613\|78.76%
	View	gordonsepilepsy normalized 2077	9	rs79202054 dbSNP Clinvar	33386526	3071.72	G	A	.	0/1	144	SYNONYMOUS_CODING	LOW	None	0.00020	0.00020				4.93	0.01 0.13281 T	None None None None	AQP7\|0.012677613\|78.76%
ARHGEF39
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	gordonsepilepsy normalized 2077	9	rs2297879 dbSNP Clinvar	35662251	4987.48	T	C	.	1/1	51	NON_SYNONYMOUS_CODING	MODERATE	None	0.30571	0.30570	0.25065	0.33	0.00	6.50	None None	None None None None	ARHGEF39\|0.293829153\|28.14%
ARID3C
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	gordonsepilepsy normalized 2077	9	rs3808869 dbSNP Clinvar	34622389	11347.2	A	C	.	0/1	34	NON_SYNONYMOUS_CODING	MODERATE	None	0.60244	0.60240	0.41558	0.68	0.00		None None	None None None None	ARID3C\|0.102060317\|50.79%
	View	gordonsepilepsy normalized 2077	9	rs13283357 dbSNP Clinvar	34627940	3321.41	C	T	.	1/1	2	SYNONYMOUS_CODING	LOW	None	0.18690	0.18690	0.27163				None None	None None None None	ARID3C\|0.102060317\|50.79%
ARRDC1
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	gordonsepilepsy normalized 2077	9	rs62622789 dbSNP Clinvar	140507480	14870.5	C	T	.	0/1	13	None	None	None	0.05591	0.05591	0.05659	0.02	0.91		None None	None None None None	ARRDC1\|0.043457377\|64.67%
ASB6
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	gordonsepilepsy normalized 2077	9	rs3739851 dbSNP Clinvar	132400480	11534.7	G	A	.	0/1	14	SYNONYMOUS_CODING	LOW	None	0.46146	0.46150	0.47178				None None	None None None None	ASB6\|0.071590826\|57.08%
	View	gordonsepilepsy normalized 2077	9	rs2241247 dbSNP Clinvar	132402908	6089.68	C	G	.	1/1	17	SYNONYMOUS_CODING	LOW	None	0.93490	0.93490	0.04060				None None	None None None None	ASB6\|0.071590826\|57.08%
ASPN
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	gordonsepilepsy normalized 2077	9	rs4744132 dbSNP Clinvar	95219597	8926.68	G	A	.	1/1	49	SYNONYMOUS_CODING	LOW	None	0.99101	0.99100	0.01261				None None	None None None None	CENPP\|0.015429847\|76.86%,ASPN\|0.415784887\|19.83%
	View	gordonsepilepsy normalized 2077	9	rs878929025,rs397838876,rs557103556 dbSNP Clinvar	95237024	9723.68	CTCA	C	.	1/1	23	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None							None None	None None None None	CENPP\|0.015429847\|76.86%,ASPN\|0.415784887\|19.83%
ASS1
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	gordonsepilepsy normalized 2077	9	rs1057484 dbSNP Clinvar	133364757	4223.92	T	C	.	0/1	106	SYNONYMOUS_CODING	LOW	None	0.07668	0.07668	0.10288				None None	None None None None	ASS1\|0.463790404\|17.47%
ASTN2
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	gordonsepilepsy normalized 2077	9	rs7018569 dbSNP Clinvar	119199820	9257.68	C	G	.	1/1	29	None	None	None	0.92213	0.92210		0.58	0.00		None None	None None None None	ASTN2\|0.952118309\|2.19%
	View	gordonsepilepsy normalized 2077	9	rs7863560 dbSNP Clinvar	119495697	11405.7	T	C	.	1/1	67	SYNONYMOUS_CODING	LOW	None	0.99241	0.99240	0.00484				None None	None None None None	ASTN2\|0.952118309\|2.19%