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+ Genes 420

Genes:
ABCA1, ABCA2, ABL1, ACO1, ADAMTS13, ADAMTSL1, ADAMTSL2, AGTPBP1, AIF1L, AK1, AK3, AKNA, AL358113.1, AL590708.2, ALAD, ALDH1A1, ALDH1B1, ANGPTL2, ANKRD18A, ANKRD18B, ANKRD20A1, ANKRD20A2, ANKRD20A4, ANKS6, APBA1, AQP3, AQP7, ARHGEF39, ARID3C, ASB6, ASPN, ASS1, ASTN2, BAAT, BAG1, BARX1, BRD3, BRINP1, BSPRY, BX088651.1, C5, C8G, C9orf114, C9orf116, C9orf117, C9orf129, C9orf131, C9orf141, C9orf147, C9orf152, C9orf156, C9orf169, C9orf171, C9orf172, C9orf173, C9orf24, C9orf3, C9orf43, C9orf50, C9orf57, C9orf62, C9orf69, C9orf84, C9orf89, C9orf96, CA9, CACFD1, CACNA1B, CBWD1, CBWD6, CCDC107, CCDC171, CCDC180, CCDC183, CCIN, CDK20, CDK5RAP2, CEL, CEP78, CER1, CERCAM, CLTA, CNTLN, CNTNAP3, CNTNAP3B, CNTRL, COL15A1, COL27A1, COL5A1, COQ4, CRAT, CRB2, CTNNAL1, CTSL, DBH, DCAF12, DDX31, DDX58, DEC1, DENND1A, DENND4C, DFNB31, DMRT1, DMRT2, DMRT3, DNAI1, DNAJA1, DNAJC25, DNM1, DOCK8, DOLPP1, DPM2, DPP7, EHMT1, ENDOG, ENTPD2, ENTPD8, EPB41L4B, EQTN, ERCC6L2, EXD3, EXOSC3, FAM102A, FAM120A, FAM120AOS, FAM154A, FAM166B, FAM189A2, FAM205A, FAM214B, FAM27E1, FAM27E2, FAM27E3, FAM69B, FAM78A, FBP1, FBP2, FBXO10, FCN1, FCN2, FGD3, FKBP15, FNBP1, FOCAD, FOXD4, FOXD4L5, FOXE1, FPGS, FREM1, FRMD3, FRMPD1, FRRS1L, FSD1L, FXN, GABBR2, GALT, GAPVD1, GBGT1, GCNT1, GLE1, GLIS3, GLT6D1, GNA14, GOLGA1, GOLGA2, GPR107, GPR144, GPSM1, GRHPR, GRIN3A, GSN, GTF3C4, GTF3C5, HAUS6, HDHD3, HMCN2, HRCT1, HSD17B3, IARS, IDNK, IFNA1, IFNA4, IFNK, IFT74, IGFBPL1, IKBKAP, INSL4, INSL6, INVS, IZUMO3, JAK2, KANK1, KCNT1, KDM4C, KIAA0020, KIAA1161, KIAA2026, KIF12, KIF24, KIF27, LAMC3, LCN10, LCN12, LCN15, LCN8, LCN9, LHX2, LMX1B, LPPR1, LRRC19, LRRC8A, LRSAM1, LURAP1L, MAMDC2, MAMDC4, MAN1B1, MEGF9, MELK, MLANA, MLLT3, MPDZ, MURC, MVB12B, NACC2, NAIF1, NANS, NCBP1, NDUFA8, NEK6, NELFB, NFX1, NINJ1, NIPSNAP3A, NMRK1, NOL6, NOTCH1, NOXA1, NPDC1, NPR2, NR4A3, NR5A1, NTMT1, NTNG2, NTRK2, NUP188, NUP214, NUTM2F, NUTM2G, OBP2A, OBP2B, ODF2, OLFM1, OLFML2A, OR13F1, OR13J1, OR1B1, OR1J1, OR1J2, OR1K1, OR1L4, OR1L6, OR1L8, OR1N1, OR1N2, OR1Q1, OR2K2, ORM1, ORM2, OSTF1, PALM2-AKAP2, PAPPA, PAPPA-AS1, PAX5, PCSK5, PDCD1LG2, PGM5, PHF19, PHF2, PHYHD1, PIGO, PIP5KL1, PLIN2, PNPLA7, POLR1E, POMT1, PPAPDC2, PPAPDC3, PPP1R26, PRKACG, PRRC2B, PRSS3, PRUNE2, PSAT1, PSIP1, PSMB7, PSMD5, PTCH1, PTGDS, PTGES2, PTGR1, PTGS1, PTPRD, QRFP, QSOX2, RABL6, RAD23B, RALGDS, RANBP6, RASEF, RC3H2, RCL1, RECK, REXO4, RGP1, RGS3, RLN1, RLN2, RNF20, ROR2, RORB, RP11-295D22.1, RPL7A, RUSC2, SAPCD2, SARDH, SCAI, SEC16A, SEMA4D, SETX, SH2D3C, SH3GLB2, SHB, SHC3, SLC1A1, SLC24A2, SLC25A25, SLC28A3, SLC31A2, SLC34A3, SLC46A2, SMARCA2, SMC2, SMC5, SNAPC4, SNX30, SOHLH1, SPAG8, SPATA31A3, SPATA31A6, SPATA31A7, SPATA31D1, SPATA31E1, SPTAN1, SPTLC1, STRBP, SURF1, SURF2, SUSD1, SVEP1, TAF1L, TBC1D13, TBC1D2, TDRD7, TEK, TESK1, TEX10, TGFBR1, TJP2, TLE1, TLE4, TLN1, TMEM2, TMEM215, TMEM245, TMEM246, TMEM261, TMEM8B, TNC, TNFSF15, TNFSF8, TOR1B, TOR2A, TPD52L3, TRAF1, TRBV20OR9-2, TRMT10B, TRPM3, TRPM6, TSTD2, TTC16, TTC39B, TTF1, TTLL11, TUSC1, UAP1L1, UBAC1, UBAP2, UBQLN1, UCK1, USP20, VAV2, VCP, VLDLR, VPS13A, WDR34, WDR38, WDR5, WNK2, ZBTB43, ZBTB5, ZCCHC6, ZDHHC12, ZER1, ZFAND5, ZNF169, ZNF189, ZNF618, ZNF658, ZNF782, ZNF79,

+ Genes associated with diseases 92

Genes at Omim

ABCA1, ABL1, ADAMTS13, ADAMTSL2, AGTPBP1, AK1, ALAD, ANKS6, AQP3, AQP7, ASPN, ASS1, BAAT, C5, CACNA1B, CDK5RAP2, CEL, CEP78, COL27A1, COL5A1, COQ4, CRAT, CRB2, DBH, DDX58, DNAI1, DNM1, DOCK8, DPM2, EHMT1, ERCC6L2, EXOSC3, FBP1, FOXE1, FREM1, FRRS1L, FXN, GABBR2, GALT, GLE1, GLIS3, GRHPR, GSN, HSD17B3, IARS, IFNA1, IFT74, IKBKAP, INVS, JAK2, KANK1, KCNT1, LAMC3, LMX1B, LRRC8A, LRSAM1, MAN1B1, MPDZ, NANS, NOTCH1, NPR2, NR5A1, NTRK2, NUP214, PAX5, PIGO, POMT1, PRKACG, PSAT1, PTCH1, ROR2, RORB, RUSC2, SARDH, SETX, SLC1A1, SLC34A3, SMARCA2, SOHLH1, SPTAN1, SPTLC1, SURF1, TDRD7, TEK, TGFBR1, TJP2, TNC, TRPM6, VCP, VLDLR, VPS13A, WDR34,
ABCA1 HDL deficiency, type 2, 604091 (3)
Tangier disease, 205400 (3)
{Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3)
ABL1 Congenital heart defects and skeletal malformations syndrome, 617602 (3)
Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3)
ADAMTS13 Thrombotic thrombocytopenic purpura, familial, 274150 (3)
ADAMTSL2 Geleophysic dysplasia 1, 231050 (3)
AGTPBP1 Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 (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)
CACNA1B ?Dystonia 23, 614860 (3)
CDK5RAP2 Microcephaly 3, primary, autosomal recessive, 604804 (3)
CEL Maturity-onset diabetes of the young, type VIII, 609812 (3)
CEP78 Cone-rod dystrophy and hearing loss, 617236 (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)
DNAI1 Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (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)
ERCC6L2 Bone marrow failure syndrome 2, 615715 (3)
EXOSC3 Pontocerebellar hypoplasia, type 1B, 614678 (3)
FBP1 Fructose-1,6-bisphosphatase deficiency, 229700 (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)
FRRS1L Epileptic encephalopathy, early infantile, 37, 616981 (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)
GALT Galactosemia, 230400 (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)
GSN Amyloidosis, Finnish type, 105120 (3)
HSD17B3 Pseudohermaphroditism, male, with gynecomastia, 264300 (3)
IARS Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 (3)
IFNA1 Interferon, alpha, deficiency (1)
IFT74 ?Bardet-Biedl syndrome 20, 617119 (3)
IKBKAP Dysautonomia, familial, 223900 (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)
LAMC3 Cortical malformations, occipital, 614115 (3)
LMX1B Nail-patella syndrome, 161200 (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)
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)
NR5A1 Adrenocortical insufficiency, 612964 (3)
Premature ovarian failure 7, 612964 (3)
46, XX sex reversal 4, 617480 (3)
46XY sex reversal 3, 612965 (3)
Spermatogenic failure 8, 613957 (3)
NTRK2 Epileptic encephalopathy, early infantile, 58, 617830 (3)
Obesity, hyperphagia, and developmental delay, 613886 (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)
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)
PRKACG ?Bleeding disorder, platelet-type, 19, 616176 (3)
PSAT1 Neu-Laxova syndrome 2, 616038 (3)
?Phosphoserine aminotransferase deficiency, 610992 (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)
RORB {Epilepsy, idiopathic generalized, susceptibility to, 15}, 618357 (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)
SLC34A3 Hypophosphatemic rickets with hypercalciuria, 241530 (3)
SMARCA2 Nicolaides-Baraitser syndrome, 601358 (3)
SOHLH1 Ovarian dysgenesis 5, 617690 (3)
Spermatogenic failure 32, 618115 (3)
SPTAN1 Epileptic encephalopathy, early infantile, 5, 613477 (3)
SPTLC1 Neuropathy, hereditary sensory and autonomic, type IA, 162400 (3)
SURF1 Charcot-Marie-Tooth disease, type 4K, 616684 (3)
Leigh syndrome, due to COX IV deficiency, 256000 (3)
TDRD7 Cataract 36, 613887 (3)
TEK Glaucoma 3, primary congenital, E, 617272 (3)
Venous malformations, multiple cutaneous and mucosal, 600195 (3)
TGFBR1 {Multiple self-healing squamous epithelioma, susceptibility to}, 132800 (3)
Loeys-Dietz syndrome 1, 609192 (3)
TJP2 Cholestasis, progressive familial intrahepatic 4, 615878 (3)
Hypercholanemia, familial, 607748 (3)
TNC Deafness, autosomal dominant 56, 615629 (3)
TRPM6 Hypomagnesemia 1, intestinal, 602014 (3)
VCP Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 (3)
Charcot-Marie-Tooth disease, type 2Y, 616687 (3)
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 (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, AK1, ALAD, ANKS6, AQP3, ASS1, BAAT, C5, CACNA1B, CDK5RAP2, CEL, COL27A1, COL5A1, COQ4, CRB2, DBH, DDX58, DNAI1, DNM1, DOCK8, DPM2, EHMT1, ERCC6L2, EXOSC3, FBP1, FOXE1, FREM1, FXN, GALT, GLE1, GLIS3, GRHPR, GSN, HSD17B3, IKBKAP, INVS, JAK2, KANK1, KCNT1, LAMC3, LMX1B, LRRC8A, LRSAM1, MAN1B1, MPDZ, NOTCH1, NPR2, NR5A1, NTRK2, PAX5, PIGO, POMT1, PRKACG, PSAT1, PTCH1, ROR2, SETX, SLC1A1, SLC34A3, SMARCA2, SPTAN1, SPTLC1, SURF1, TDRD7, TEK, TGFBR1, TJP2, TNC, TRPM6, VCP, VLDLR, VPS13A, WDR34,
ABCA1 ABCA1 deficiency
Tangier disease
HDL deficiency, type 2
ADAMTS13 Thrombotic thrombocytopenic purpura, familial
Schulman-Upshaw syndrome
ADAMTSL2 Geleophysic dysplasia 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
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
DNAI1 Ciliary dyskinesia, primary, 1
DNM1 Epileptic encephalopathy, early infantile 31
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive
DPM2 Congenital disorder of glycosylation, type Iu
EHMT1 Kleefstra syndrome
ERCC6L2 Bone marrow failure syndrome 2
EXOSC3 Pontocerebellar hypoplasia type 1B
FBP1 Fructose-1,6-bisphosphatase deficiency
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
GALT Galactosemia
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
GSN Amyloidosis, Finnish type
HSD17B3 17-Beta hydroxysteroid dehydrogenase III deficiency
IKBKAP Dysautonomia, familial
INVS Nephronophthisis 2
JAK2 Thrombocythemia 3
KANK1 Cerebral palsy, spastic quadriplegic, 2
KCNT1 Epilepsy, nocturnal frontal lobe, 5
Early infantile epileptic encephalopathy 14
LAMC3 Cortical malformations, occipital
LMX1B Nail-patella syndrome
LRRC8A Agammaglobulinemia 5
LRSAM1 Charcot-Marie-Tooth disease, axonal, type 2P
MAN1B1 Mental retardation, autosomal recessive 15
MPDZ Hydrocephalus, nonsyndromic, autosomal recessive 2
NOTCH1 Aortic valve disease
NPR2 Epiphyseal chondrodysplasia, Miura type
Short stature with nonspecific skeletal abnormalities
Acromesomelic dysplasia, Maroteaux type
NR5A1 Adrenocortical insufficiency
46, XY sex reversal, 3
Premature ovarian failure 7
NTRK2 Obesity, hyperphagia, and developmental delay
PAX5 Pre-B cell acute lymphoblastic leukemia
PIGO Hyperphosphatasia with mental retardation syndrome 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
PRKACG Bleeding disorder, platelet-type, 19
PSAT1 Phosphoserine aminotransferase deficiency
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
SLC34A3 Hypophosphatemic rickets with hypercalciuria, hereditary
SMARCA2 Nicolaides-Baraitser syndrome
SPTAN1 Epileptic encephalopathy, early infantile, 5
SPTLC1 Neuropathy, hereditary sensory and autonomic, type IA
Neuropathy, hereditary sensory and autonomic, type IC
SURF1 Charcot-Marie-Tooth disease type 4K
Leigh syndrome
TDRD7 Cataract, autosomal recessive congenital 4
TEK Venous malformations, multiple cutaneous and mucosal
TGFBR1 Loeys-Dietz syndrome, type 1A
Loeys-Dietz syndrome, type 2A
TJP2 Hypercholanemia, familial
Cholestasis, progressive familial intrahepatic 4
TNC Deafness, autosomal dominant 56
TRPM6 Hypomagnesemia 1, intestinal
VCP Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia
Charcot-Marie-Tooth disease type, axonal type, 2Y
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1
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: 6254
Number of Genes: 420

Export to: CSV

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 combined sample_55.variant18 9 rs9282537
dbSNP Clinvar 		107550222 1419.5 G A PASS 0/1 153 SYNONYMOUS_CODING LOW None 0.07648 0.07648 0.08581 None None None None None None ABCA1|0.668333708|9.43%
View combined sample_55.variant18 9 rs2274873
dbSNP Clinvar 		107602678 1568.48 G A PASS 0/1 226 SYNONYMOUS_CODING LOW None 0.08207 0.08207 0.09895 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 combined sample_55.variant18 9 rs7048567
dbSNP Clinvar 		139904037 4036.31 A G PASS 1/1 412 SYNONYMOUS_CODING LOW None 0.72005 0.72000 0.29152 None None None None None None ABCA2|0.074227496|56.47%
View combined sample_55.variant18 9 rs2271862
dbSNP Clinvar 		139906359 2195.48 G A PASS 1/1 368 SYNONYMOUS_CODING LOW None 0.68730 0.68730 0.32231 None None None None None None ABCA2|0.074227496|56.47%
View combined sample_55.variant18 9 rs908832
dbSNP Clinvar 		139912484 6287.86 A G PASS 1/1 266 SYNONYMOUS_CODING LOW None 0.96386 0.96390 0.03809 None None None None None None ABCA2|0.074227496|56.47%
View combined sample_55.variant18 9 rs908828
dbSNP Clinvar 		139913239 3098.44 T G PASS 1/1 176 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 combined sample_55.variant18 9 rs4880189
dbSNP Clinvar 		139923265 8198.01 A G PASS 1/1 162 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%

ABL1
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 combined sample_55.variant18 9 rs34717358
dbSNP Clinvar 		133759546 2039.15 G A PASS 0/1 140 SYNONYMOUS_CODING LOW None 0.02316 0.02316 0.02899 None None None None None None ABL1|0.915754224|3.1%
View combined sample_55.variant18 9 rs2229071
dbSNP Clinvar 		133760106 1007.48 C T PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.00220 0.00220 0.00662 0.00 1.00 None None None None None None ABL1|0.915754224|3.1%
View combined sample_55.variant18 9 rs1056171
dbSNP Clinvar 		133761001 2697.36 A G PASS 0/1 172 SYNONYMOUS_CODING LOW None 0.65415 0.65420 0.41512 None None None None None None ABL1|0.915754224|3.1%

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 combined sample_55.variant18 9 rs3780473
dbSNP Clinvar 		32425910 2045.54 A G PASS 0/1 255 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 combined sample_55.variant18 9 rs3118667
dbSNP Clinvar 		136291063 1655.35 C T PASS 0/1 180 SYNONYMOUS_CODING LOW None 0.58187 0.58190 0.48355 None None None None None None ADAMTS13|0.009367264|81.4%
View combined sample_55.variant18 9 rs3124768
dbSNP Clinvar 		136304497 5268.23 A G PASS 0/1 234 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.51597 0.51600 0.41542 None None None None None None ADAMTS13|0.009367264|81.4%
View combined sample_55.variant18 9 rs685523
dbSNP Clinvar 		136310908 1771.16 C T PASS 0/1 161 NON_SYNONYMOUS_CODING MODERATE None 0.07648 0.07648 0.11295 0.87 0.00 None None None None None None ADAMTS13|0.009367264|81.4%
View combined sample_55.variant18 9 rs3124767
dbSNP Clinvar 		136308542 3132.5 C T PASS 0/1 92 SYNONYMOUS_CODING LOW None 0.49681 0.49680 0.38725 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 combined sample_55.variant18 9 rs2277160
dbSNP Clinvar 		18504916 1783.19 T A PASS 0/1 145 SYNONYMOUS_CODING LOW None 0.57089 0.57090 0.40643 None None None None None None ADAMTSL1|0.674544897|9.24%
View combined sample_55.variant18 9 rs35525189,rs796576662
dbSNP Clinvar 		18826261 1977.14 GT G PASS 0/1 77 None None None None None None None None None ADAMTSL1|0.674544897|9.24%
View combined sample_55.variant18 9 rs149522121
dbSNP Clinvar 		18887959 2002.08 C T PASS 0/1 183 SYNONYMOUS_CODING LOW None 0.00919 0.00919 0.00528 None None None None None None ADAMTSL1|0.674544897|9.24%
View combined sample_55.variant18 9 rs13293151
dbSNP Clinvar 		18681821 2651.51 A G PASS 0/1 168 SYNONYMOUS_CODING LOW None 0.27716 0.27720 0.32608 6.08 0.07 0.71458 D None None None None ADAMTSL1|0.674544897|9.24%
View combined sample_55.variant18 9 rs1549986
dbSNP Clinvar 		18776840 3588.84 A C PASS 1/1 203 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%

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 combined sample_55.variant18 9 rs2073874
dbSNP Clinvar 		136412170 1703.6 C T PASS 0/1 204 SYNONYMOUS_CODING LOW None 0.72404 0.72400 0.12464 None None None None None None ADAMTSL2|0.0506365|62.46%
View combined sample_55.variant18 9 rs2073875
dbSNP Clinvar 		136412236 2448.12 A T PASS 0/1 252 SYNONYMOUS_CODING LOW None 0.72464 0.72460 0.12448 None None None None None None ADAMTSL2|0.0506365|62.46%
View combined sample_55.variant18 9 rs2073876
dbSNP Clinvar 		136412255 2534.41 A C PASS 0/1 231 SYNONYMOUS_CODING LOW None 0.72464 0.72460 0.12440 None None None None None None ADAMTSL2|0.0506365|62.46%
View combined sample_55.variant18 9 rs1064975
dbSNP Clinvar 		136434598 4188.43 A G PASS 1/1 341 SYNONYMOUS_CODING LOW None None None None None None None ADAMTSL2|0.0506365|62.46%
View combined sample_55.variant18 9 rs534165083
dbSNP Clinvar 		136433542 7226.53 C T PASS 0/1 299 SYNONYMOUS_CODING LOW None None None None None None None ADAMTSL2|0.0506365|62.46%
View combined sample_55.variant18 9 rs7868941
dbSNP Clinvar 		136421044 848.26 C T PASS 0/1 40 SYNONYMOUS_CODING LOW None None None None None None None ADAMTSL2|0.0506365|62.46%
View combined sample_55.variant18 9 rs62637566
dbSNP Clinvar 		136438985 4788.48 G A PASS 0/1 389 SYNONYMOUS_CODING LOW None None None None None None None ADAMTSL2|0.0506365|62.46%

AGTPBP1
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 combined sample_55.variant18 9 rs10114347
dbSNP Clinvar 		88356743 237.01 A G PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.43031 0.43030 None None None None None None AGTPBP1|0.262515075|30.52%

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 combined sample_55.variant18 9 rs353510
dbSNP Clinvar 		133996503 2934.44 T A PASS 1/1 162 None None None 0.64537 0.64540 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 combined sample_55.variant18 9 rs913986
dbSNP Clinvar 		130630639 2727.04 A G PASS 1/1 101 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%

AK3
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 combined sample_55.variant18 9 rs151087607
dbSNP Clinvar 		4718440 414.74 T G PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.00539 0.00539 0.00508 0.01 0.04 4.24 None None None None None None AK3|0.168943089|40.46%

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 combined sample_55.variant18 9 rs3748177
dbSNP Clinvar 		117122202 1719.97 C T PASS 0/1 336 SYNONYMOUS_CODING LOW None 0.38998 0.39000 0.41865 None None None None None None AKNA|0.005369534|85.34%
View combined sample_55.variant18 9 rs3748176
dbSNP Clinvar 		117124731 830.38 G A PASS 0/1 97 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%

AL358113.1
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 combined sample_55.variant18 9 rs3812536
dbSNP Clinvar 		71869473 1925.72 G A PASS 0/1 170 NON_SYNONYMOUS_CODING MODERATE None 0.45667 0.45670 0.00 None None None None None None TJP2|0.24805836|31.7%

AL590708.2
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 combined sample_55.variant18 9 rs12377832
dbSNP Clinvar 		130891060 3532.1 G A PASS 0/1 289 NON_SYNONYMOUS_CODING MODERATE None 0.12001 0.12000 0.00 0.97 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 combined sample_55.variant18 9 rs1800435
dbSNP Clinvar 		116153891 1209.14 C G PASS 0/1 169 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%

ALDH1A1
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 combined sample_55.variant18 9 rs13959
dbSNP Clinvar 		75545882 1889.98 G A PASS 0/1 111 SYNONYMOUS_CODING LOW None 0.40935 0.40930 0.41489 None None None None None None ALDH1A1|0.218646851|34.51%

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 combined sample_55.variant18 9 rs2228094
dbSNP Clinvar 		38395940 4526.62 T C PASS 1/1 169 SYNONYMOUS_CODING LOW None 0.93670 0.93670 0.07919 None None None None None None ALDH1B1|0.096225216|51.9%
View combined sample_55.variant18 9 rs4878199
dbSNP Clinvar 		38396502 1185.79 G A PASS 1/1 83 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%

ANGPTL2
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 combined sample_55.variant18 9 rs2297866
dbSNP Clinvar 		129854199 1806.7 G A PASS 0/1 210 SYNONYMOUS_CODING LOW None 0.29054 0.29050 0.36191 None None None None None None RALGPS1|0.437653651|18.81%,ANGPTL2|0.341353132|24.75%

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 combined sample_55.variant18 9 rs2799163
dbSNP Clinvar 		38588602 784.24 T C PASS 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.39217 0.39220 0.19 0.93 None None None None None None ANKRD18A|0.001240448|94.24%
View combined sample_55.variant18 9 rs2996347
dbSNP Clinvar 		38595886 3127.22 T C PASS 0/1 369 NON_SYNONYMOUS_CODING MODERATE None 0.33187 0.33190 0.28024 0.22 0.00 None None None None None None ANKRD18A|0.001240448|94.24%
View combined sample_55.variant18 9 rs200461192
dbSNP Clinvar 		38610336 1943.49 C T PASS 0/1 216 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.19 0.00 None None None None None None ANKRD18A|0.001240448|94.24%
View combined sample_55.variant18 9 rs1832313
dbSNP Clinvar 		38615698 1029.84 C T PASS 1/1 114 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 combined sample_55.variant18 9 rs62559879
dbSNP Clinvar 		33566234 617.88 C T PASS 0/1 72 SYNONYMOUS_CODING LOW None 0.15955 0.15950 None None None None None None ANKRD18B|0.001295646|93.93%
View combined sample_55.variant18 9 rs3843933
dbSNP Clinvar 		33524684 8767.3 G A PASS 1/1 181 NON_SYNONYMOUS_CODING MODERATE None 0.75320 0.75320 1.00 0.92 None None None None None None ANKRD18B|0.001295646|93.93%
View combined sample_55.variant18 9 rs7853994
dbSNP Clinvar 		33572347 556.46 T C PASS 0/1 28 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 combined sample_55.variant18 9 rs10971566
dbSNP Clinvar 		33568789 1245.58 T G PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.19968 0.19970 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 combined sample_55.variant18 9 rs757153521
dbSNP Clinvar 		67927001 55.46 A G DRAGENHardSNP 1/1 4 SYNONYMOUS_CODING LOW None None None None None None None ANKRD20A1|0.001623081|92.24%
View combined sample_55.variant18 9 rs201807056
dbSNP Clinvar 		67938651 88.1 G C PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.63 0.00 None None None None None None ANKRD20A1|0.001623081|92.24%
View combined sample_55.variant18 9 rs199656293
dbSNP Clinvar 		67938655 493.1 T C PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.57 0.00 None None None None None None ANKRD20A1|0.001623081|92.24%
View combined sample_55.variant18 9 rs62542472
dbSNP Clinvar 		67968476 581.33 C T DRAGENHardSNP 0/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.04 0.00 None None None None None None ANKRD20A1|0.001623081|92.24%
View combined sample_55.variant18 9 rs200689776
dbSNP Clinvar 		67927015 58.71 A G PASS 1/1 6 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.91 None None None None None None ANKRD20A1|0.001623081|92.24%
View combined sample_55.variant18 9 rs796585045
dbSNP Clinvar 		67938656 172.08 C G PASS 0/1 52 STOP_GAINED+SPLICE_SITE_REGION HIGH None None None None None None None ANKRD20A1|0.001623081|92.24%
View combined sample_55.variant18 9 rs779353799
dbSNP Clinvar 		67938626 101.25 A G DRAGENHardSNP 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.04 0.80 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 combined sample_55.variant18 9 rs77881930
dbSNP Clinvar 		42368549 76.93 C T DRAGENHardSNP 0/1 49 SYNONYMOUS_CODING LOW None None None None None None None ANKRD20A3|0.001944577|91.12%,ANKRD20A2|0.001339079|93.66%
View combined sample_55.variant18 9 rs75596179
dbSNP Clinvar 		42368600 124.7 C T DRAGENHardSNP 0/1 45 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 combined sample_55.variant18 9 . 69423700 499.42 G A DRAGENHardSNP 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None ANKRD20A4|0.002453356|89.79%
View combined sample_55.variant18 9 rs75696372
dbSNP Clinvar 		69423792 313.93 A T DRAGENHardSNP 0/1 133 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.13 None None None None None None ANKRD20A4|0.002453356|89.79%
View combined sample_55.variant18 9 rs200741673
dbSNP Clinvar 		69423703 499.42 A C DRAGENHardSNP 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.18 None None None None None None ANKRD20A4|0.002453356|89.79%
View combined sample_55.variant18 9 rs200486187
dbSNP Clinvar 		69423550 116.84 G T DRAGENHardSNP 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.83 None None None None None None ANKRD20A4|0.002453356|89.79%
View combined sample_55.variant18 9 . 69423521 115.37 T C DRAGENHardSNP 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.05 None None None None None None ANKRD20A4|0.002453356|89.79%
View combined sample_55.variant18 9 . 69423519 115.37 C A DRAGENHardSNP 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None ANKRD20A4|0.002453356|89.79%
View combined sample_55.variant18 9 rs201112034
dbSNP Clinvar 		69423721 539.21 G A DRAGENHardSNP 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.52 0.00 None None None None None None ANKRD20A4|0.002453356|89.79%
View combined sample_55.variant18 9 rs199996482
dbSNP Clinvar 		69423558 160.21 C T DRAGENHardSNP 0/1 58 SYNONYMOUS_CODING LOW None None None None None None None ANKRD20A4|0.002453356|89.79%
View combined sample_55.variant18 9 rs77404847
dbSNP Clinvar 		69423755 291.74 G C DRAGENHardSNP 0/1 89 NON_SYNONYMOUS_CODING MODERATE None 0.68 0.00 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 combined sample_55.variant18 9 rs6415847
dbSNP Clinvar 		101533220 719.17 C T PASS 1/1 61 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%

APBA1
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 combined sample_55.variant18 9 rs34788368
dbSNP Clinvar 		72131577 3812.21 A C PASS 0/1 409 NON_SYNONYMOUS_CODING MODERATE None 0.20328 0.20330 0.15325 1.00 0.00 None None None None None None APBA1|0.50040617|15.79%

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 combined sample_55.variant18 9 rs2228332
dbSNP Clinvar 		33442952 393.08 G A PASS 1/1 111 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 combined sample_55.variant18 9 rs591810
dbSNP Clinvar 		33447424 4462.78 C G PASS 1/1 150 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 combined sample_55.variant18 9 rs4080365
dbSNP Clinvar 		33391479 31.57 G A PASS 0/1 118 None None None 0.50519 0.50520 None None None None None None AQP7|0.012677613|78.76%
View combined sample_55.variant18 9 rs76863051
dbSNP Clinvar 		33387004 191.15 T C PASS 0/1 62 SYNONYMOUS_CODING LOW None None None None None None None AQP7|0.012677613|78.76%
View combined sample_55.variant18 9 rs77244521
dbSNP Clinvar 		33386989 235.81 C G PASS 0/1 63 SYNONYMOUS_CODING LOW None None None None None None None AQP7|0.012677613|78.76%
View combined sample_55.variant18 9 rs4008658
dbSNP Clinvar 		33387047 121.52 T G PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.29 0.01 None None None None None None AQP7|0.012677613|78.76%
View combined sample_55.variant18 9 rs76608797
dbSNP Clinvar 		33386146 152.11 C A PASS 0/1 117 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.08 0.01 None None None None None None AQP7|0.012677613|78.76%
View combined sample_55.variant18 9 rs79172651
dbSNP Clinvar 		33386167 490.42 G C PASS 0/1 158 NON_SYNONYMOUS_CODING MODERATE None 0.00020 1.00 0.00 None None None None None None AQP7|0.012677613|78.76%
View combined sample_55.variant18 9 rs79202054
dbSNP Clinvar 		33386526 38.22 G A PASS 0/1 27 SYNONYMOUS_CODING LOW None 0.00020 0.00020 4.93 0.01 0.13281 T None None None None AQP7|0.012677613|78.76%
View combined sample_55.variant18 9 rs2381003
dbSNP Clinvar 		33395108 1954.78 G A PASS 0/1 803 SYNONYMOUS_CODING LOW None None None None None None None AQP7|0.012677613|78.76%
View combined sample_55.variant18 9 rs72707424
dbSNP Clinvar 		33386511 67.64 A G PASS 0/1 28 SYNONYMOUS_CODING LOW None None None None None None None AQP7|0.012677613|78.76%
View combined sample_55.variant18 9 rs77962308
dbSNP Clinvar 		33386510 67.64 C T PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.01 None None None None None None AQP7|0.012677613|78.76%
View combined sample_55.variant18 9 rs78695486
dbSNP Clinvar 		33386469 133.55 C T PASS 0/1 25 SYNONYMOUS_CODING LOW None 0.00040 0.00040 None None None None None None AQP7|0.012677613|78.76%
View combined sample_55.variant18 9 rs74668961
dbSNP Clinvar 		33386465 130.56 A G PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.41 None None None None None None AQP7|0.012677613|78.76%
View combined sample_55.variant18 9 rs73645276
dbSNP Clinvar 		33387073 83.93 G A PASS 0/1 35 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None AQP7|0.012677613|78.76%
View combined sample_55.variant18 9 rs642636
dbSNP Clinvar 		33395196 4585.2 A G PASS 1/1 239 None None None 0.99082 0.99080 0.00692 None None None None None None AQP7|0.012677613|78.76%
View combined sample_55.variant18 9 rs76209395
dbSNP Clinvar 		33386144 152.11 G A PASS 0/1 112 SYNONYMOUS_CODING LOW None 4.77 0.04 0.59886 D None None None None AQP7|0.012677613|78.76%
View combined sample_55.variant18 9 rs182339228
dbSNP Clinvar 		33391522 164.66 C T PASS 0/1 84 None None None None None None None None None AQP7|0.012677613|78.76%

ARHGEF39
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_55.variant18 9 rs2297879
dbSNP Clinvar 		35662251 3625.56 T C PASS 0/1 312 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_55.variant18 9 rs13283357
dbSNP Clinvar 		34627940 6109.3 C T PASS 0/1 149 SYNONYMOUS_CODING LOW None 0.18690 0.18690 0.27163 None None None None None None ARID3C|0.102060317|50.79%

ASB6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_55.variant18 9 rs3739851
dbSNP Clinvar 		132400480 1994.22 G A PASS 0/1 252 SYNONYMOUS_CODING LOW None 0.46146 0.46150 0.47178 None None None None None None ASB6|0.071590826|57.08%
View combined sample_55.variant18 9 rs2241247
dbSNP Clinvar 		132402908 882.63 C G PASS 1/1 103 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_55.variant18 9 rs4744132
dbSNP Clinvar 		95219597 8010.92 G A PASS 1/1 269 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 combined sample_55.variant18 9 rs878983183
dbSNP Clinvar 		95237024 3443.09 CT... CT... PASS 0/1 112 CODON_INSERTION 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_55.variant18 9 rs1057484
dbSNP Clinvar 		133364757 1340.43 T C PASS 0/1 77 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
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 Alt
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_55.variant18 9 rs7018569
dbSNP Clinvar 		119199820 2434.17 C G PASS 1/1 85 None None None 0.92213 0.92210 0.58 0.00 None None None None None None ASTN2|0.952118309|2.19%
View combined sample_55.variant18 9 rs7848630
dbSNP Clinvar 		120053776 965.87 T C PASS 1/1 68 SYNONYMOUS_CODING LOW None 0.96466 0.96470 0.03360 None None None None None None ASTN2|0.952118309|2.19%
View combined sample_55.variant18 9 rs3761845
dbSNP Clinvar 		119770480 1054.63 C T PASS 1/1 179 SYNONYMOUS_CODING LOW None 0.48982 0.48980 0.43357 None None None None None None ASTN2|0.952118309|2.19%
View combined sample_55.variant18 9 rs7863560
dbSNP Clinvar 		119495697 1796.72 T C PASS 1/1 100 SYNONYMOUS_CODING LOW None 0.99241 0.99240 0.00484 None None None None None None ASTN2|0.952118309|2.19%

BAAT
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_55.variant18 9 rs41281027
dbSNP Clinvar 		104130469 932.68 C G PASS 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.00180 0.15520 0.16969 0.11 0.00 None None None None None None BAAT|0.006993319|83.49%

BAG1
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 combined sample_55.variant18 9 rs1071545
dbSNP Clinvar 		33264540 2543.47 C G PASS 1/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.97943 0.97940 0.01767 0.02 0.00 None None None None None None BAG1|0.038149666|66.39%

BARX1
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 combined sample_55.variant18 9 rs191789925
dbSNP Clinvar 		96717287 810.6 C T PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.08946 0.08946 0.53 0.48 None None None None None None BARX1|0.563718474|13.21%