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+ Genes 409

Genes:
ABCD4, ABHD12B, AC007956.1, ACIN1, ACOT2, ACOT4, ADAM21, ADCK1, ADSSL1, AE000662.92, AHNAK2, AK7, AKAP5, AKAP6, AKT1, AL133373.1, AL139099.1, AL391152.1, ANG, APEX1, APOPT1, ARHGEF40, ARID4A, ASB2, ATG14, ATG2B, ATL1, ATP5S, ATXN3, BAG5, BAZ1A, BCL2L2-PABPN1, BDKRB1, BDKRB2, BEGAIN, BMP4, C14orf105, C14orf132, C14orf144, C14orf159, C14orf164, C14orf166B, C14orf182, C14orf23, C14orf37, C14orf39, C14orf64, C14orf79, C14orf80, CATSPERB, CCDC175, CCDC177, CCDC85C, CCDC88C, CCNB1IP1, CDC42BPB, CDCA4, CDH24, CDKL1, CEP170B, CHD8, CHGA, CHMP4A, CINP, CKB, CLMN, CMA1, CMTM5, COCH, COQ6, CPNE6, CTAGE5, DAAM1, DACT1, DCAF5, DDHD1, DDX24, DEGS2, DHRS7, DKFZP434O1614, DLGAP5, DLK1, DLST, DNAAF2, DPF3, DYNC1H1, EAPP, EDDM3A, EDDM3B, EFCAB11, EFS, EIF2S1, ELMSAN1, EML1, EML5, ENTPD5, ERO1L, ESR2, ESRRB, EXD2, EXOC3L4, FAM161B, FAM71D, FBLN5, FBXO34, FERMT2, FLRT2, FLVCR2, FOS, FOXA1, FOXN3, FRMD6, FSCB, FUT8, GALC, GALNT16, GOLGA5, GPATCH2L, GPR135, GPR137C, GPR65, GSTZ1, GZMB, HEATR4, HEATR5A, HECTD1, HHIPL1, HOMEZ, HSP90AA1, HSPA2, IFI27, IGHA1, IGHA2, IGHD, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHJ6, IGHM, IGHV1-18, IGHV1-2, IGHV1-24, IGHV1-3, IGHV1-46, IGHV1-58, IGHV1-69, IGHV1-8, IGHV2-5, IGHV2-70, IGHV3-11, IGHV3-13, IGHV3-20, IGHV3-21, IGHV3-30, IGHV3-48, IGHV3-49, IGHV3-53, IGHV3-64, IGHV3-7, IGHV4-28, IGHV4-31, IGHV4-4, IGHV4-61, IGHV5-51, IGHV7-81, IL25, INF2, INSM2, IRF2BPL, ISM2, ITPK1, JAG2, JDP2, KCNH5, KCNK10, KCNK13, KHNYN, KIAA0125, KIAA0586, KIF26A, KLHDC1, KLHL33, KTN1, L2HGDH, L3HYPDH, LGALS3, LGMN, LRFN5, LRR1, LRRC16B, LRRC9, LTB4R, LTBP2, MAP3K9, MAP4K5, MARK3, MBIP, MDGA2, METTL17, METTL3, MIA2, MIS18BP1, MLH3, MMP14, MOAP1, MRPL52, MTA1, MTHFD1, MYH6, MYH7, NDUFB1, NEK9, NEMF, NFATC4, NFKBIA, NGDN, NID2, NIN, NOP9, NOXRED1, NRDE2, NRXN3, NUDT14, NYNRIN, OR10G3, OR11G2, OR11H4, OR11H7, OR4E2, OR4K1, OR4K13, OR4K14, OR4K15, OR4K17, OR4K2, OR4L1, OR4M1, OR4N2, OR4Q2, OR4Q3, OR5AU1, OR6J1, OR6S1, OSGEP, OTUB2, OXA1L, PABPN1, PAPLN, PAPOLA, PAX9, PCK2, PCNX, PCNXL4, PLD4, PLEK2, PLEKHD1, PLEKHG3, PLEKHH1, PNN, POLE2, POMT2, POTEG, POTEM, PPP1R13B, PPP1R36, PRIMA1, PRKCH, PRKD1, PSMB11, PSMC1, PSME2, PTGR2, PTPN21, PYGL, RABGGTA, RAD51B, RBM23, RCOR1, RDH12, REC8, RIN3, RNASE13, RNASE3, RNASE4, RNASE7, RNASE8, RNASE9, RP11-131H24.4, RP11-176H8.1, RP11-187E13.1, RP11-187E13.2, RP11-80A15.1, RP11-998D10.1, RPGRIP1, RPS6KA5, RPS6KL1, RTL1, RTN1, SALL2, SAMD15, SDR39U1, SEC23A, SEL1L, SERPINA10, SERPINA11, SERPINA5, SERPINA6, SERPINA9, SFTA3, SIPA1L1, SIVA1, SIX1, SIX4, SIX6, SLC24A4, SLC25A47, SLC38A6, SLC39A2, SLC7A7, SLC7A8, SLC8A3, SLIRP, SMOC1, SNW1, SNX6, SOS2, SPATA7, SPTB, SPTLC2, SSTR1, STON2, STRN3, SUPT16H, SYNDIG1L, SYNE2, SYNE3, SYT16, TBPL2, TC2N, TCL1B, TDP1, TDRD9, TECPR2, TEP1, TINF2, TMED8, TMEM179, TMEM253, TMEM260, TMEM30B, TMEM63C, TMX1, TNFAIP2, TOX4, TRAJ13, TRAJ16, TRAJ32, TRAJ36, TRAJ37, TRAJ47, TRAV1-1, TRAV10, TRAV12-1, TRAV14DV4, TRAV20, TRAV26-1, TRAV26-2, TRAV27, TRAV29DV5, TRAV30, TRAV35, TRAV36DV7, TRAV38-1, TRAV6, TRAV8-2, TRAV8-3, TRDV2, TRIP11, TRMT5, TRMT61A, TSHR, TTC5, TTC6, TTC7B, TTC9, TTLL5, TXNDC16, UBR7, UNC79, VASH1, VRK1, VSX2, WARS, WDHD1, WDR25, XRCC3, YLPM1, ZBTB1, ZBTB42, ZC2HC1C, ZFP36L1, ZFYVE1, ZFYVE21, ZFYVE26, ZNF219, ZNF410, ZNF839,

+ Genes associated with diseases 77

Genes at Omim

ABCD4, ADSSL1, AK7, AKT1, ANG, APOPT1, ATL1, ATXN3, BMP4, CCDC88C, CHD8, COCH, COQ6, DACT1, DDHD1, DYNC1H1, EML1, ESR2, ESRRB, FBLN5, FLVCR2, FUT8, GALC, GSTZ1, IGHG2, IGHM, INF2, IRF2BPL, KIAA0586, L2HGDH, LTBP2, MARK3, MLH3, MMP14, MTHFD1, MYH6, MYH7, NEK9, NFKBIA, NIN, OSGEP, PABPN1, PAX9, PCK2, POMT2, PRKCH, PRKD1, PYGL, RDH12, RPGRIP1, SALL2, SEC23A, SIX1, SIX6, SLC24A4, SLC7A7, SMOC1, SOS2, SPATA7, SPTB, SPTLC2, SYNE2, TCL1B, TDP1, TDRD9, TECPR2, TINF2, TMEM260, TRIP11, TRMT5, TSHR, TTLL5, VRK1, WARS, XRCC3, ZBTB42, ZFYVE26,
ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (3)
ADSSL1 Myopathy, distal, 5, 617030 (3)
AK7 ?Spermatogenic failure 27, 617965 (3)
AKT1 Breast cancer, somatic, 114480 (3)
Colorectal cancer, somatic, 114500 (3)
Cowden syndrome 6, 615109 (3)
{Schizophrenia, susceptibility to}, 181500 (2)
Ovarian cancer, somatic, 167000 (3)
Proteus syndrome, somatic, 176920 (3)
ANG Amyotrophic lateral sclerosis 9, 611895 (3)
APOPT1 Mitochondrial complex IV deficiency, 220110 (3)
ATL1 Neuropathy, hereditary sensory, type ID, 613708 (3)
Spastic paraplegia 3A, autosomal dominant, 182600 (3)
ATXN3 Machado-Joseph disease, 109150 (3)
BMP4 Microphthalmia, syndromic 6, 607932 (3)
Orofacial cleft 11, 600625 (3)
CCDC88C Hydrocephalus, congenital, 1, 236600 (3)
?Spinocerebellar ataxia 40, 616053 (3)
CHD8 {Autism, susceptibility to, 18}, 615032 (3)
COCH Deafness, autosomal dominant 9, 601369 (3)
?Deafness, autosomal recessive 110, 618094 (3)
COQ6 Coenzyme Q10 deficiency, primary, 6, 614650 (3)
DACT1 ?Townes-Brocks syndrome 2, 617466 (3)
DDHD1 Spastic paraplegia 28, autosomal recessive, 609340 (3)
DYNC1H1 Charcot-Marie-Tooth disease, axonal, type 20, 614228 (3)
Mental retardation, autosomal dominant 13, 614563 (3)
Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 (3)
EML1 Band heterotopia, 600348 (3)
ESR2 ?Ovarian dysgenesis 8, 618187 (3)
ESRRB Deafness, autosomal recessive 35, 608565 (3)
FBLN5 Cutis laxa, autosomal dominant 2, 614434 (3)
Cutis laxa, autosomal recessive, type IA, 219100 (3)
Macular degeneration, age-related, 3, 608895 (3)
Neuropathy, hereditary, with or without age-related macular degeneration, 608895 (3)
FLVCR2 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 (3)
FUT8 Congenital disorder of glycosylation with defective fucosylation 1, 618005 (3)
GALC Krabbe disease, 245200 (3)
GSTZ1 [Maleylacetoacetate isomerase deficiency], 617596 (3)
IGHG2 IgG2 deficiency, selective (3)
IGHM Agammaglobulinemia 1, 601495 (3)
INF2 Glomerulosclerosis, focal segmental, 5, 613237 (3)
Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)
IRF2BPL Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 (3)
KIAA0586 Joubert syndrome 23, 616490 (3)
Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3)
L2HGDH L-2-hydroxyglutaric aciduria, 236792 (3)
LTBP2 Glaucoma 3, primary congenital, D, 613086 (3)
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3)
?Weill-Marchesani syndrome 3, recessive, 614819 (3)
MARK3 ?Visual impairment and progressive phthisis bulbi, 618283 (3)
MLH3 Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3)
Colorectal cancer, somatic, 114500 (3)
{Endometrial cancer, susceptibility to}, 608089 (3)
MMP14 ?Winchester syndrome, 277950 (3)
MTHFD1 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MYH6 Atrial septal defect 3, 614089 (3)
Cardiomyopathy, dilated, 1EE, 613252 (3)
Cardiomyopathy, hypertrophic, 14, 613251 (3)
{Sick sinus syndrome 3}, 614090 (3)
MYH7 Cardiomyopathy, dilated, 1S, 613426 (3)
Cardiomyopathy, hypertrophic, 1, 192600 (3)
Laing distal myopathy, 160500 (3)
Left ventricular noncompaction 5, 613426 (3)
Myopathy, myosin storage, autosomal dominant, 608358 (3)
Myopathy, myosin storage, autosomal recessive, 255160 (3)
Scapuloperoneal syndrome, myopathic type, 181430 (3)
NEK9 Lethal congenital contracture syndrome 10, 617022 (3)
Nevus comedonicus, somatic, 617025 (3)
?Arthrogryposis, Perthes disease, and upward gaze palsy, 614262 (3)
NFKBIA Ectodermal dysplasia and immunodeficiency 2, 612132 (3)
NIN ?Seckel syndrome 7, 614851 (3)
OSGEP Galloway-Mowat syndrome 3, 617729 (3)
PABPN1 Oculopharyngeal muscular dystrophy, 164300 (3)
PAX9 Tooth agenesis, selective, 3, 604625 (3)
PCK2 PEPCK deficiency, mitochondrial, 261650 (1)
POMT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3)
PRKCH {Cerebral infarction, susceptibility to}, 601367 (3)
PRKD1 Congenital heart defects and ectodermal dysplasia, 617364 (3)
PYGL Glycogen storage disease VI, 232700 (3)
RDH12 Leber congenital amaurosis 13, 612712 (3)
RPGRIP1 Cone-rod dystrophy 13, 608194 (3)
Leber congenital amaurosis 6, 613826 (3)
SALL2 ?Coloboma, ocular, autosomal recessive, 216820 (3)
SEC23A Craniolenticulosutural dysplasia, 607812 (3)
SIX1 Branchiootic syndrome 3, 608389 (3)
Deafness, autosomal dominant 23, 605192 (3)
SIX6 Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3)
SLC24A4 Amelogenesis imperfecta, type IIA5, 615887 (3)
[Skin/hair/eye pigmentation 6, blond/brown hair], 210750 (3)
[Skin/hair/eye pigmentation 6, blue/green eyes], 210750 (3)
SLC7A7 Lysinuric protein intolerance, 222700 (3)
SMOC1 Microphthalmia with limb anomalies, 206920 (3)
SOS2 Noonan syndrome 9, 616559 (3)
SPATA7 Leber congenital amaurosis 3, 604232 (3)
Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3)
SPTB Anemia, neonatal hemolytic, fatal or near-fatal, 617948 (3)
Elliptocytosis-3, 617948 (3)
Spherocytosis, type 2, 616649 (3)
SPTLC2 Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3)
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)
TCL1B Leukemia/lymphoma, T-cell (2)
TDP1 Spinocerebellar ataxia, autosomal recessive with axonal neuropathy, 607250 (3)
TDRD9 ?Spermatogenic failure 30, 618110 (3)
TECPR2 Spastic paraplegia 49, autosomal recessive, 615031 (3)
TINF2 Dyskeratosis congenita, autosomal dominant 3, 613990 (3)
Revesz syndrome, 268130 (3)
TMEM260 Structural heart defects and renal anomalies syndrome, 617478 (3)
TRIP11 Achondrogenesis, type IA, 200600 (3)
Osteochondrodysplasia, 184260 (3)
TRMT5 Combined oxidative phosphorylation deficiency 26, 616539 (3)
TSHR Hyperthyroidism, familial gestational, 603373 (3)
Hyperthyroidism, nonautoimmune, 609152 (3)
Hypothyroidism, congenital, nongoitrous, 1 275200 (3)
Thyroid adenoma, hyperfunctioning, somatic (3)
Thyroid carcinoma with thyrotoxicosis (3)
TTLL5 Cone-rod dystrophy 19, 615860 (3)
VRK1 Pontocerebellar hypoplasia type 1A, 607596 (3)
WARS Neuronopathy, distal hereditary motor, type IX, 617721 (3)
XRCC3 {Melanoma, cutaneous malignant, 6}, 613972 (3)
{Breast cancer, susceptibility to}, 114480 (3)
ZBTB42 ?Lethal congenital contracture syndrome 6, 616248 (3)
ZFYVE26 Spastic paraplegia 15, autosomal recessive, 270700 (3)

Genes at Clinical Genomics Database

ABCD4, AKT1, ANG, APOPT1, ATL1, ATXN3, BMP4, CCDC88C, CHD8, COCH, COQ6, DNAAF2, DYNC1H1, ESRRB, FBLN5, FLVCR2, GALC, IGHM, INF2, KIAA0586, L2HGDH, LTBP2, MLH3, MMP14, MTHFD1, MYH6, MYH7, NFKBIA, NIN, PABPN1, PAX9, POMT2, PYGL, RDH12, RPGRIP1, SALL2, SEC23A, SERPINA6, SIX1, SIX6, SLC24A4, SLC7A7, SMOC1, SOS2, SPATA7, SPTB, SYNE2, TDP1, TECPR2, TINF2, TRIP11, TRMT5, TSHR, TTLL5, VRK1, VSX2, ZBTB42, ZFYVE26,
ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type
AKT1 Cowden syndrome 6
Proteus syndrome
ANG Amyotrophic lateral sclerosis 9
APOPT1 Mitochondrial complex IV deficiency
ATL1 Neuropathy, hereditary sensory, type 1D
Spastic paraplegia 3, autosomal dominant
ATXN3 Spinocerebellar ataxia 3 (Machado-Joseph disease)
BMP4 Microphthalmia, syndromic 6
Orofacial cleft 11
CCDC88C Spinocerebellar ataxia 40
CHD8 Autism, susceptibility to 18
COCH Deafness, autosomal dominant 9
COQ6 Coenzyme Q10 deficiency, primary 6
DNAAF2 Ciliary dyskinesia, primary, 10
DYNC1H1 Charcot-Marie-Tooth disease, axonal, type 2O
Mental retardation, autosomal dominant 13
Spinal muscular atrophy, lower extremity, autosomal dominant
ESRRB Deafness, autosomal recessive 35
FBLN5 Macular degeneration, age-related 3
Cutis laxa, autosomal dominant 2
Cutis laxa, autosomal recessive, type IA
FLVCR2 Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome
GALC Krabbe disease
IGHM Agammaglobulinemia 1
INF2 Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease, dominant intermediate E
KIAA0586 Joubert syndrome 23
Short rib thoracic dysplasia 14 with polydactyly
L2HGDH L-2-hydroxyglutaric aciduria
LTBP2 Glaucoma 3, primary congenital, D
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Weill-Marchesani syndrome 3
MLH3 Colorectal cancer, hereditary nonpolyposis type 7
Endometrial carcinoma
MMP14 Winchester syndrome
MTHFD1 Severe combined immunodeficiency
MYH6 Cardiomyopathy, dilated, 1EE
Cardiomyopathy, familial hypertrophic 14
MYH7 Cardiomyopathy, dilated, 1S
Cardiomyopathy, familial hypertrophic
Myopathy, distal
Myopathy, myosin storage, autosomal recessive
NFKBIA Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency
NIN Seckel syndrome 7
PABPN1 Oculopharyngeal muscular dystrophy
PAX9 Tooth agenesis, selective, 3
POMT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 2
PYGL Glycogen storage disease VI
RDH12 Leber congenital amaurosis 13
Retinitis pigmentosa 53
RPGRIP1 Leber congenital amaurosis 6
Cone-rod dystrophy 13
SALL2 Ocular coloboma
SEC23A Craniolenticulosutural dysplasia
SERPINA6 Corticosteroid-binding globulin deficiency
SIX1 Deafness, autosomal dominant 23
Branchiootorenal syndrome 3
Branchiootic syndrome 3
SIX6 Microphthalmia, isolated, with cataract 2
Optic disc anomalies with retinal and/or macular dystrophy
SLC24A4 Ameliogenesis imperfecta, hypomaturation type, IIA5
SLC7A7 Lysinuric protein intolerance
SMOC1 Microphthalmia with limb anomalies
SOS2 Noonan syndrome 9
SPATA7 Leber congenital amaurosis 3
Retitinitis pigmentosa, juvenile, SPATA7-related
SPTB Spherocytosis, type 2
Ellipsocytosis, type 3
Anemia, neonatal hemolytic
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant
TDP1 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
TECPR2 Spastic paraplegia 49, autosomal recessive
TINF2 Dyskeratosis congenita, autosomal dominant 3
Revesz syndrome
TRIP11 Achondrogenesis, type IA
TRMT5 Combined oxidative phosphorylation deficiency 26
TSHR Hyperthyroidism, familial, gestational
Hyperthyroidism, nonautoimmune
Hypothyroidism, congenital, nongoitrous, 1
TTLL5 Cone-rod dystrophy 19
VRK1 Pontocerebellar hypoplasia type 1A
VSX2 Microphthalmia, isolated 2
Microphthalmia, isolated, with coloboma 3
ZBTB42 Lethal congenital contracture syndrome 6
ZFYVE26 Spastic paraplegia 15

Genes at HGMD

Summary

Number of Variants: 8796
Number of Genes: 409

Export to: CSV

ABCD4
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 2486 14 rs3742801
dbSNP Clinvar 		74759006 9071.7 C T . 0/1 93 NON_SYNONYMOUS_CODING MODERATE None 0.27037 0.27040 0.30724 0.31 0.00 None None None None None None ABCD4|0.201608796|36.57%
View gordonsepilepsy normalized 2486 14 rs2301345
dbSNP Clinvar 		74766352 7090.7 A G . 0/1 68 SYNONYMOUS_CODING LOW None 0.26258 0.26260 0.29902 None None None None None None ABCD4|0.201608796|36.57%
View gordonsepilepsy normalized 2486 14 rs4148078
dbSNP Clinvar 		74759301 12001.7 G T . 0/1 152 SYNONYMOUS_CODING LOW None 0.26298 0.26300 0.29925 None None None None None None ABCD4|0.201608796|36.57%
View gordonsepilepsy normalized 2486 14 rs4148077
dbSNP Clinvar 		74759477 16225.7 C T . 0/1 171 NON_SYNONYMOUS_CODING MODERATE None 0.27037 0.27040 0.30747 1.00 0.00 None None None None None None ABCD4|0.201608796|36.57%

ABHD12B
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 2486 14 rs7154732
dbSNP Clinvar 		51370849 7841.5 T C . 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.05331 0.05331 0.06705 0.00 1.00 None None None None None None PYGL|0.75708561|6.92%,ABHD12B|0.032837943|68.22%

AC007956.1
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 2486 14 rs2270424
dbSNP Clinvar 		75159007 1362.92 G A . 0/1 24 STOP_GAINED HIGH None 0.24461 0.24460 None None None None None None AREL1|0.445762843|18.38%
View gordonsepilepsy normalized 2486 14 rs2270425
dbSNP Clinvar 		75179734 1764.92 C G . 0/1 117 NON_SYNONYMOUS_CODING MODERATE None 0.36522 0.36520 1.00 0.00 None None None None None None AREL1|0.445762843|18.38%

ACIN1
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 2486 14 rs34870944
dbSNP Clinvar 		23548787 4046.5 C CG... . 0/1 61 CODON_INSERTION MODERATE None None None None None None None ACIN1|0.717450786|8.04%
View gordonsepilepsy normalized 2486 14 rs3751501
dbSNP Clinvar 		23549285 1107.17 G A . 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.05172 0.05172 0.04406 0.64 None None None None None None ACIN1|0.717450786|8.04%
View gordonsepilepsy normalized 2486 14 rs60168438
dbSNP Clinvar 		23530622 4451.5 T C . 0/1 97 SYNONYMOUS_CODING LOW None 0.24501 0.24500 0.25119 None None None None None None ACIN1|0.717450786|8.04%
View gordonsepilepsy normalized 2486 14 rs941719
dbSNP Clinvar 		23549379 13342.7 C G . 1/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.99960 0.99960 0.00338 0.00 None None None None None None ACIN1|0.717450786|8.04%
View gordonsepilepsy normalized 2486 14 rs3077646
dbSNP Clinvar 		23548783 2327.17 A AG... . 0/1 57 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.38778 0.38780 0.49976 None None None None None None ACIN1|0.717450786|8.04%
View gordonsepilepsy normalized 2486 14 rs1885097
dbSNP Clinvar 		23549319 4668.48 A G . 1/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.42832 0.42830 0.44526 0.00 None None None None None None ACIN1|0.717450786|8.04%
View gordonsepilepsy normalized 2486 14 rs45510791
dbSNP Clinvar 		23549383 1853.17 G T . 0/1 58 SYNONYMOUS_CODING LOW None 0.05172 0.05172 0.00023 None None None None None None ACIN1|0.717450786|8.04%
View gordonsepilepsy normalized 2486 14 rs1885098
dbSNP Clinvar 		23549380 2730.5 G A . 0/1 60 SYNONYMOUS_CODING LOW None 0.00040 0.10520 0.00277 None None None None None None ACIN1|0.717450786|8.04%
View gordonsepilepsy normalized 2486 14 rs3811182
dbSNP Clinvar 		23549785 11253.5 T C . 1/1 160 NON_SYNONYMOUS_CODING MODERATE None 0.50080 0.50080 0.49300 0.00 None None None None None None ACIN1|0.717450786|8.04%
View gordonsepilepsy normalized 2486 14 rs3841035,rs57580458
dbSNP Clinvar 		23549878 4127.17 TTCC T . 0/1 92 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.10723 0.10720 None None None None None None ACIN1|0.717450786|8.04%

ACOT2
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 2486 14 rs149033118
dbSNP Clinvar 		74041748 62.73 A G . 0/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.30 0.00 None None None None None None ACOT2|0.010972761|80.08%
View gordonsepilepsy normalized 2486 14 rs7494
dbSNP Clinvar 		74042189 226.22 A G . 0/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.21 0.00 None None None None None None ACOT2|0.010972761|80.08%

ACOT4
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 2486 14 rs2010070
dbSNP Clinvar 		74061968 11439.9 T C . 1/1 110 SYNONYMOUS_CODING LOW None 0.86182 0.86180 0.20060 None None None None None None ACOT4|0.025540514|71.55%
View gordonsepilepsy normalized 2486 14 rs3742819
dbSNP Clinvar 		74058832 2493.42 C T . 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.39697 0.39700 0.25100 0.04 0.74 None None None None None None ACOT4|0.025540514|71.55%

ADAM21
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 2486 14 rs45480894
dbSNP Clinvar 		70924693 2699.17 T C . 0/1 87 SYNONYMOUS_CODING LOW None 0.25579 0.25580 0.00662 None None None None None None ADAM21|0.009866102|80.97%
View gordonsepilepsy normalized 2486 14 rs77892318
dbSNP Clinvar 		70924696 2755.17 G A . 0/1 89 SYNONYMOUS_CODING LOW None 0.25040 0.25040 None None None None None None ADAM21|0.009866102|80.97%
View gordonsepilepsy normalized 2486 14 rs45545935
dbSNP Clinvar 		70924697 2737.17 A G . 0/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.25040 0.25040 0.36 0.00 None None None None None None ADAM21|0.009866102|80.97%
View gordonsepilepsy normalized 2486 14 rs3829455
dbSNP Clinvar 		70924852 5941.5 A C . 0/1 68 SYNONYMOUS_CODING LOW None 0.44070 0.44070 0.36028 None None None None None None ADAM21|0.009866102|80.97%
View gordonsepilepsy normalized 2486 14 rs114864695
dbSNP Clinvar 		70924955 5812.17 A C . 0/1 151 NON_SYNONYMOUS_CODING MODERATE None 0.27576 0.27580 0.80 0.00 None None None None None None ADAM21|0.009866102|80.97%
View gordonsepilepsy normalized 2486 14 rs12436346
dbSNP Clinvar 		70925257 9241.68 A G . 1/1 55 SYNONYMOUS_CODING LOW None 0.02736 None None None None None None ADAM21|0.009866102|80.97%
View gordonsepilepsy normalized 2486 14 rs2022624
dbSNP Clinvar 		70925818 8354.17 T C . 1/1 74 SYNONYMOUS_CODING LOW None 0.74301 0.74300 None None None None None None ADAM21|0.009866102|80.97%
View gordonsepilepsy normalized 2486 14 rs3829452
dbSNP Clinvar 		70924566 1703.17 C G . 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.37021 0.37020 1.00 0.00 None None None None None None ADAM21|0.009866102|80.97%
View gordonsepilepsy normalized 2486 14 rs3829453
dbSNP Clinvar 		70924567 1703.17 A T . 0/1 45 SYNONYMOUS_CODING LOW None 0.37021 0.37020 0.07931 None None None None None None ADAM21|0.009866102|80.97%
View gordonsepilepsy normalized 2486 14 rs3751520
dbSNP Clinvar 		70924237 1361.5 C A . 0/1 37 SYNONYMOUS_CODING LOW None 0.37460 0.37460 None None None None None None ADAM21|0.009866102|80.97%
View gordonsepilepsy normalized 2486 14 rs3751521
dbSNP Clinvar 		70924249 4848.17 A G . 1/1 37 SYNONYMOUS_CODING LOW None 0.64836 0.64840 0.37315 None None None None None None ADAM21|0.009866102|80.97%
View gordonsepilepsy normalized 2486 14 rs3751523
dbSNP Clinvar 		70924462 8499.17 A G . 0/1 41 SYNONYMOUS_CODING LOW None 0.19437 None None None None None None ADAM21|0.009866102|80.97%
View gordonsepilepsy normalized 2486 14 rs8010994
dbSNP Clinvar 		70924501 10226.7 C G . 1/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.00 None None None None None None ADAM21|0.009866102|80.97%

ADCK1
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 2486 14 rs3837641,rs779085049,rs3082719
dbSNP Clinvar 		78366933 22359.9 G GAAC . 0/1 190 None None None 0.37061 0.37060 None None None None None None ADCK1|0.142961952|44%
View gordonsepilepsy normalized 2486 14 rs734654
dbSNP Clinvar 		78366967 23229.9 A G . 0/1 282 None None None 0.39177 0.39180 None None None None None None ADCK1|0.142961952|44%

ADSSL1
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 2486 14 rs33958252
dbSNP Clinvar 		105196365 3603.97 T C . 0/1 51 SYNONYMOUS_CODING LOW None 0.60923 0.60920 0.44888 None None None None None None ADSSL1|0.059470498|60.05%

AE000662.92
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 2486 14 rs12888861
dbSNP Clinvar 		23025932 2477.68 A T . 1/1 14 SYNONYMOUS_CODING LOW None 0.62840 0.62840 None None None None None None None

AHNAK2
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 2486 14 rs2819422
dbSNP Clinvar 		105408955 4749.92 A G . 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.58067 0.58070 0.39517 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs2819441
dbSNP Clinvar 		105418275 6425.92 T G . 0/1 60 SYNONYMOUS_CODING LOW None 0.00938 0.02336 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs28380382
dbSNP Clinvar 		105410827 5142.92 C T . 0/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.55252 0.55250 0.41489 1.00 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs879209
dbSNP Clinvar 		105421050 1720.92 T G . 0/1 123 SYNONYMOUS_CODING LOW None 0.30970 0.30970 0.41829 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs2248966
dbSNP Clinvar 		105417102 6642.92 T C . 0/1 78 SYNONYMOUS_CODING LOW None 0.55611 0.55610 0.39060 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs28714612
dbSNP Clinvar 		105412009 1297.92 A G . 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.38518 0.38520 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs55797226
dbSNP Clinvar 		105413223 6629.92 A G . 0/1 76 SYNONYMOUS_CODING LOW None 0.52716 0.52720 0.44573 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs78447535
dbSNP Clinvar 		105418194 2318.72 A G . 0/1 39 SYNONYMOUS_CODING LOW None 0.25240 0.25240 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs9671643
dbSNP Clinvar 		105408030 5137.92 A G . 0/1 70 SYNONYMOUS_CODING LOW None 0.55551 0.55550 0.41507 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs11851053
dbSNP Clinvar 		105407208 2040.92 T C . 0/1 101 SYNONYMOUS_CODING LOW None 0.55491 0.55490 0.41696 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs61996045
dbSNP Clinvar 		105417103 6642.92 G A . 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.28155 0.28150 0.41613 0.10 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs10134675
dbSNP Clinvar 		105415229 780.92 T C . 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.00140 0.28230 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs2248960
dbSNP Clinvar 		105417228 1320.92 C T . 0/1 56 SYNONYMOUS_CODING LOW None 0.29533 0.29530 0.18996 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs61421370
dbSNP Clinvar 		105406372 3768.92 C T . 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.29313 0.29310 0.42651 0.04 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs77111827
dbSNP Clinvar 		105417243 637.92 T C . 0/1 59 SYNONYMOUS_CODING LOW None 0.01338 0.24120 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs2582513
dbSNP Clinvar 		105414790 10483.9 A G . 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.56310 0.56310 0.41529 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs11160825
dbSNP Clinvar 		105410411 7643.92 C T . 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.54972 0.54970 0.41916 0.98 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs72702027
dbSNP Clinvar 		105414629 5569.92 G A . 0/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.53195 0.53190 0.43679 0.80 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs2819421
dbSNP Clinvar 		105408811 4678.92 A G . 0/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.55511 0.55510 0.41776 0.01 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs2013274
dbSNP Clinvar 		105417222 1538.92 C T . 0/1 54 SYNONYMOUS_CODING LOW None 0.22684 0.22680 0.17072 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs373797895
dbSNP Clinvar 		105411957 1747.92 G A . 0/1 63 SYNONYMOUS_CODING LOW None None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs118171013
dbSNP Clinvar 		105415748 5797.92 G A . 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.30032 0.30030 0.44101 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs28737397
dbSNP Clinvar 		105411971 1669.92 T C . 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.26158 0.26160 0.04490 0.28 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs2819435
dbSNP Clinvar 		105416220 16940.2 T A . 0/1 97 NON_SYNONYMOUS_CODING MODERATE None 0.07528 0.72180 0.13588 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs10145566
dbSNP Clinvar 		105415200 2511.92 G C . 0/1 61 SYNONYMOUS_CODING LOW None 0.28994 0.28990 0.37128 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs55650155
dbSNP Clinvar 		105418264 18674.5 G A . 0/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.38299 0.38300 0.42877 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs117379881
dbSNP Clinvar 		105415745 5720.92 C G . 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.27716 0.27720 0.42009 0.88 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs9672139
dbSNP Clinvar 		105408182 4865.92 T G . 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.52756 0.52760 0.44488 0.01 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs60754080
dbSNP Clinvar 		105414238 5711.92 C A . 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.48023 0.48020 0.44926 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs180868793
dbSNP Clinvar 		105418272 6393.92 C G . 0/1 59 SYNONYMOUS_CODING LOW None 0.00559 0.00939 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs189619756
dbSNP Clinvar 		105414378 7252.17 A G . 0/1 91 SYNONYMOUS_CODING LOW None 0.01398 0.01398 0.00854 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs11850949
dbSNP Clinvar 		105408827 5453.92 A C . 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.53075 0.53080 0.43830 0.05 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs2894635
dbSNP Clinvar 		105417225 1514.92 C G . 0/1 57 SYNONYMOUS_CODING LOW None 0.24281 0.24280 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs3742935
dbSNP Clinvar 		105405599 3702.92 G C . 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.55511 0.55510 0.41569 0.73 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs10438246
dbSNP Clinvar 		105410183 4222.92 T C . 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.55591 0.55590 0.41195 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs55791176
dbSNP Clinvar 		105418344 6076.92 T G . 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.00180 0.00180 0.48995 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs11848564
dbSNP Clinvar 		105413790 5649.92 G A . 0/1 122 SYNONYMOUS_CODING LOW None 0.35044 0.35040 0.48287 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs2819424
dbSNP Clinvar 		105410775 4736.92 A G . 0/1 66 SYNONYMOUS_CODING LOW None 0.58586 0.58590 0.39270 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs11625007
dbSNP Clinvar 		105418391 6158.92 C T . 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.48587 0.05 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs2582514
dbSNP Clinvar 		105413204 6440.92 G T . 0/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.56709 0.56710 0.40549 0.01 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs2582511
dbSNP Clinvar 		105416010 6587.92 T C . 0/1 78 SYNONYMOUS_CODING LOW None 0.58347 0.58350 0.35749 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs28593209
dbSNP Clinvar 		105416649 5041.25 G A . 0/1 42 SYNONYMOUS_CODING LOW None 0.27696 0.27700 0.41438 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs12433837
dbSNP Clinvar 		105412541 2014.92 C T . 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.51857 0.51860 0.26354 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs4465542
dbSNP Clinvar 		105407798 4278.92 T C . 0/1 190 NON_SYNONYMOUS_CODING MODERATE None 0.55511 0.55510 0.41678 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs2013462
dbSNP Clinvar 		105416959 6025.92 A G . 0/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.56889 0.56890 0.39068 0.04 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs12433815
dbSNP Clinvar 		105412542 2095.92 A G . 0/1 42 SYNONYMOUS_CODING LOW None 0.51757 0.51760 0.26062 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs28564728
dbSNP Clinvar 		105412005 1254.92 A G . 0/1 44 SYNONYMOUS_CODING LOW None 0.37280 0.37280 0.27296 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs138389157
dbSNP Clinvar 		105414372 7173.17 C G . 0/1 90 SYNONYMOUS_CODING LOW None 0.01418 0.01418 0.02282 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs10152073
dbSNP Clinvar 		105409959 6610.92 G T . 0/1 58 SYNONYMOUS_CODING LOW None 0.55431 0.55430 0.41478 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs879210
dbSNP Clinvar 		105420927 2204.6 A G . 0/1 150 SYNONYMOUS_CODING LOW None 0.31470 0.31470 0.42521 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs34499888
dbSNP Clinvar 		105411153 5349.92 G A . 0/1 73 SYNONYMOUS_CODING LOW None 0.24062 0.24060 0.37356 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs2582506
dbSNP Clinvar 		105416685 13943.0 C G . 0/1 50 SYNONYMOUS_CODING LOW None 0.00220 0.00220 0.30909 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs2819429
dbSNP Clinvar 		105414280 16974.2 T G . 0/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.84325 0.84330 0.10362 0.25 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs77154428
dbSNP Clinvar 		105412066 2200.92 C T . 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.00140 0.01 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs10438247
dbSNP Clinvar 		105411781 6292.92 G A . 0/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.53854 0.53850 0.42047 1.00 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs12436986
dbSNP Clinvar 		105412554 2225.92 T G . 0/1 43 SYNONYMOUS_CODING LOW None 0.51498 0.51500 0.29044 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs28454709
dbSNP Clinvar 		105405942 4431.92 G A . 0/1 118 SYNONYMOUS_CODING LOW None 0.55491 0.55490 0.41459 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs2013445
dbSNP Clinvar 		105417147 4521.92 A G . 0/1 70 SYNONYMOUS_CODING LOW None 0.42911 0.42910 0.46916 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs12890949
dbSNP Clinvar 		105415352 25949.7 G C . 1/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.00519 0.00519 0.05832 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs60106058
dbSNP Clinvar 		105414252 6275.92 C T . 0/1 59 SYNONYMOUS_CODING LOW None 0.45487 0.45490 0.47157 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs2819419
dbSNP Clinvar 		105406238 7814.92 A C . 0/1 190 NON_SYNONYMOUS_CODING MODERATE None 0.59086 0.59090 0.38914 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View gordonsepilepsy normalized 2486 14 rs11623422
dbSNP Clinvar 		105407031 2309.92 A G . 0/1 111 SYNONYMOUS_CODING LOW None 0.55491 0.55490 0.41700 None None None None None None AHNAK2|0.000253171|99.62%