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Genes:
ABCA1, ABCA2, ACER2, ACO1, ACTL7A, ACTL7B, ADAMTSL1, ADAMTSL2, AIF1L, AKNA, AL358113.1, ALAD, ALDH1B1, ALG2, ANGPTL2, ANKRD18A, ANKRD20A4, ANKS6, ANXA1, AQP3, AQP7, ARID3C, ASB6, ASPN, ASTN2, BAAT, BAG1, BRD3, BRINP1, BSPRY, C5, C8G, C9orf114, C9orf116, C9orf117, C9orf129, C9orf131, C9orf135, C9orf141, C9orf147, C9orf152, C9orf156, C9orf171, C9orf173, C9orf24, C9orf3, C9orf40, C9orf43, C9orf50, C9orf62, C9orf69, C9orf72, C9orf78, C9orf84, C9orf89, C9orf91, CA9, CACFD1, CACNA1B, CAMSAP1, CBWD1, CCDC107, CCDC171, CCDC180, CCDC183, CCIN, CCL27, CD72, CDK20, CDK5RAP2, CNTLN, CNTNAP3, CNTNAP3B, CNTRL, COL15A1, COL27A1, COL5A1, COQ4, CORO2A, CRAT, CRB2, CTNNAL1, CTSL, DAPK1, DBH, DDX31, DDX58, DENND1A, DFNB31, DMRT1, DMRT2, DMRT3, DNAI1, DNAJA1, DNM1, DOCK8, DOLPP1, DPM2, DPP7, ECM2, ELAVL2, ENG, ENTPD2, ENTPD8, EPB41L4B, EXD3, EXOSC3, FAM102A, FAM120A, FAM120AOS, FAM129B, FAM154A, FAM166B, FAM189A2, FAM205A, FAM214B, FAM69B, FAM73B, FAM78A, FBP1, FBP2, FBXO10, FBXW5, FCN1, FCN2, FGD3, FKBP15, FNBP1, FOCAD, FOXE1, FREM1, FRMD3, GABBR2, GALT, GAPVD1, GARNL3, GBGT1, GLIS3, GLT6D1, GOLGA1, GOLGA2, GOLM1, GPR107, GPR144, GPSM1, GRIN3A, GTF3C4, HAUS6, HDHD3, HIATL1, HMCN2, IARS, IDNK, IFNA10, IFNA17, IFNA4, IFNA5, IFNA6, IFNK, IFNW1, IFT74, IKBKAP, INVS, IZUMO3, JAK2, KANK1, KCNT1, KCNV2, KDM4C, KIAA0368, KIAA1161, KIAA1432, KIAA1958, KIAA2026, KIF24, LAMC3, LCN10, LCN12, LCN15, LCNL1, LRRC19, LRRC8A, LRSAM1, LURAP1L, MAMDC2, MAMDC4, MAN1B1, MAPKAP1, MEGF9, MELK, MPDZ, MTAP, MURC, MUSK, NACC2, NAIF1, NANS, NDUFA8, NEK6, NELFB, NINJ1, NIPSNAP3A, NOTCH1, NOXA1, NPDC1, NTNG2, NUP214, NUTM2F, NUTM2G, OBP2A, ODF2, OLFM1, OLFML2A, OR13C2, OR13C5, OR13C8, OR13C9, OR13D1, OR13F1, OR13J1, OR1B1, OR1J1, OR1K1, OR1L1, OR1L4, OR1L6, OR1L8, OR1N1, OR1N2, OR1Q1, OR2K2, OR2S2, ORM1, OSTF1, PAEP, PALM2-AKAP2, PAPPA, PAPPA-AS1, PCSK5, PDCD1LG2, PHF19, PHF2, PHPT1, PIP5K1B, PIP5KL1, PNPLA7, POLR1E, POMT1, PPAPDC3, PPP1R26, PRDM12, PRPF4, PRRC2B, PRSS3, PRUNE2, PSMD5, PTBP3, PTGDS, PTGES, PTGES2, PTGR1, PTGS1, PTPN3, PTPRD, QSOX2, RABEPK, RAD23B, RALGDS, RALGPS1, RANBP6, RAPGEF1, RASEF, RC3H2, RFK, RGS3, RLN1, RMI1, RNF183, RNF20, ROR2, RP11-145E5.5, RP11-295D22.1, RPS6, RUSC2, SARDH, SCAI, SEC16A, SEMA4D, SETX, SH2D3C, SHB, SHC3, SLC1A1, SLC24A2, SLC25A25, SLC25A51, SLC28A3, SLC2A6, SLC31A2, SLC34A3, SMARCA2, SMC2, SMC5, SNAPC4, SNX30, SOHLH1, SPATA31D1, SPATA31E1, SPTAN1, SPTLC1, STRBP, SURF6, SUSD1, SUSD3, SVEP1, TAF1L, TBC1D2, TDRD7, TEK, TESK1, TEX10, TJP2, TLE1, TLE4, TMC1, TMEM2, TNC, TNFSF15, TNFSF8, TOPORS, TOR1A, TOR1B, TOR2A, TPD52L3, TRAF1, TRBV20OR9-2, TRPM3, TRPM6, TSTD2, TTC16, TTC39B, TTF1, TUBB4B, TUSC1, UAP1L1, UBAC1, UBAP2, UBQLN1, UCK1, USP20, VAV2, VPS13A, WDR34, WDR38, WDR5, WNK2, ZBTB43, ZBTB5, ZDHHC12, ZFAND5, ZNF169, ZNF189, ZNF462, ZNF510, ZNF618, ZNF658, ZNF782, ZNF79,

Genes at Omim

ABCA1, ADAMTSL2, ALAD, ALG2, ANKS6, AQP3, AQP7, ASPN, BAAT, C5, C9orf72, CACNA1B, CDK5RAP2, COL27A1, COL5A1, COQ4, CRAT, CRB2, DBH, DDX58, DNAI1, DNM1, DOCK8, DPM2, ENG, EXOSC3, FBP1, FOXE1, FREM1, GALT, GLIS3, IARS, IFT74, IKBKAP, INVS, JAK2, KANK1, KCNT1, KCNV2, LAMC3, LRRC8A, LRSAM1, MAN1B1, MPDZ, MTAP, MUSK, NANS, NOTCH1, NUP214, POMT1, PRDM12, PRPF4, ROR2, SARDH, SETX, SLC1A1, SLC34A3, SMARCA2, SPTAN1, SPTLC1, TDRD7, TEK, TJP2, TMC1, TNC, TOPORS, TRPM6, VPS13A, WDR34,
ABCA1 HDL deficiency, type 2, 604091 (3)
Tangier disease, 205400 (3)
{Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3)
ADAMTSL2 Geleophysic dysplasia 1, 231050 (3)
ALAD Porphyria, acute hepatic, 612740 (3)
{Lead poisoning, susceptibility to}, 612740 (3)
ALG2 ?Congenital disorder of glycosylation, type Ii, 607906 (3)
Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (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)
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)
CDK5RAP2 Microcephaly 3, primary, autosomal recessive, 604804 (3)
COL27A1 ?Steel syndrome, 615155 (3)
COL5A1 Ehlers-Danlos syndrome, classic type, 130000 (3)
COQ4 Coenzyme Q10 deficiency, primary, 7, 616276 (3)
CRAT ?Carnitine acetyltransferase deficiency (1)
CRB2 Focal segmental glomerulosclerosis 9, 616220 (3)
Ventriculomegaly with cystic kidney disease, 219730 (3)
DBH Dopamine beta-hydroxylase deficiency, 223360 (3)
[Dopamine-beta-hydroxylase activity levels, plasma] (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)
ENG Telangiectasia, hereditary hemorrhagic, type 1, 187300 (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)
GALT Galactosemia, 230400 (3)
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)
IARS Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 (3)
IFT74 ?Bardet-Biedl syndrome 20, 617119 (3)
IKBKAP Dysautonomia, familial, 223900 (3)
INVS Nephronophthisis 2, infantile, 602088 (3)
JAK2 Erythrocytosis, somatic, 133100 (3)
Leukemia, acute myeloid, somatic, 601626 (3)
Myelofibrosis, somatic, 254450 (3)
Polycythemia vera, somatic, 263300 (3)
Thrombocythemia 3, 614521 (3)
{Budd-Chiari syndrome, somatic}, 600800 (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-Toothe disease, axonal, type 2P, 614436 (3)
MAN1B1 Mental retardation, autosomal recessive 15, 614202 (3)
MPDZ Hydrocephalus, nonsyndromic, autosomal recessive 2, 615219 (3)
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (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)
NUP214 Leukemia, T-cell acute lymphoblastic, somatic, 613065 (3)
Leukemia, acute myeloid, somatic, 601626 (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)
PRPF4 Retinitis pigmentosa 70, 615922 (3)
ROR2 Brachydactyly, type B1, 113000 (3)
Robinow syndrome, autosomal recessive, 268310 (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)
SPTAN1 Epileptic encephalopathy, early infantile, 5, 613477 (3)
SPTLC1 Neuropathy, hereditary sensory and autonomic, type IA, 162400 (3)
TDRD7 Cataract 36, 613887 (3)
TEK 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)
VPS13A Choreoacanthocytosis, 200150 (3)
WDR34 Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)

Genes at Clinical Genomics Database

ABCA1, ADAMTSL2, ALAD, ALG2, ANKS6, AQP3, BAAT, C5, CACNA1B, CDK5RAP2, COL27A1, COL5A1, COQ4, CRB2, DBH, DDX58, DNAI1, DNM1, DOCK8, DPM2, ENG, EXOSC3, FBP1, FOXE1, FREM1, GALT, GLIS3, IKBKAP, INVS, JAK2, KANK1, KCNT1, KCNV2, LAMC3, LRRC8A, LRSAM1, MAN1B1, MPDZ, MTAP, MUSK, NOTCH1, POMT1, PRDM12, PRPF4, ROR2, SETX, SLC1A1, SLC34A3, SMARCA2, SPTAN1, SPTLC1, TDRD7, TEK, TJP2, TMC1, TNC, TOPORS, TOR1A, TRPM6, VPS13A, WDR34,
ABCA1 HDL deficiency, type 2
Tangier disease
ABCA1 deficiency
ADAMTSL2 Geleophysic dysplasia 1
ALAD Porphyria, acute hepatic
ALG2 Myasthenic syndrome, congenital 14
Congenital disorder of glycosylation, type Ii
ANKS6 Nephronophthisis 16
AQP3 Blood group, GIL
BAAT Hypercholanemia, familial
C5 Complement component 5 deficiency
Eculizumab, poor response to
CACNA1B Dystonia 23
CDK5RAP2 Microcephaly, primary autosomal recessive, 3
COL27A1 Steel syndrome
COL5A1 Ehlers-Danlos syndrome, type II
Ehlers-Danlos syndrome, type I
COQ4 Coenzyme Q10 deficiency 7
CRB2 Ventriculomegaly with cystic kidney disease
Focal segmental glomerulosclerosis 9
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
ENG Juvenile polyposis syndrome
Hereditary hemorrhagic telangiectasia, type 1
EXOSC3 Pontocerebellar hypoplasia type 1B
FBP1 Fructose-1,6-bisphosphatase deficiency
FOXE1 Congenital hypothyroidism
Hypothyroidism, thyroidal, with spiky hair and cleft palate (Bamforth-Lazarus syndrome)
Thyroid cancer, nonmedullary 4
FREM1 Congenital diaphragmatic hernia, autosomal recessive
Manitoba oculotrichoanal syndrome
Trigonocephaly 2
Bifid nose with or without anorectal and renal anomalies
GALT Galactosemia
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism
IKBKAP Dysautonomia, familial
INVS Nephronophthisis 2
JAK2 Thrombocythemia 3
KANK1 Cerebral palsy, spastic quadriplegic, 2
KCNT1 Early infantile epileptic encephalopathy 14
Epilepsy, nocturnal frontal lobe, 5
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
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma
MUSK Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
NOTCH1 Aortic valve disease
POMT1 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
PRDM12 Neuropathy, hereditary sensory and autonomic, type VIII
PRPF4 Retinitis pigmentosa 70
ROR2 Brachydactyly, type B1
Robinow syndrome, autosomal recessive
SETX Ataxia with oculomotor apraxia, type 2
Amyotrophic lateral sclerosis 4, juvenile
Spinocerebellar ataxia, autosomal recessive 1
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 IC
Neuropathy, hereditary sensory and autonomic, type IA
TDRD7 Cataract, autosomal recessive congenital 4
TEK Venous malformations, multiple cutaneous and mucosal
TJP2 Cholestasis, progressive familial intrahepatic 4
Hypercholanemia, familial
TMC1 Deafness, autosomal recessive 7
TNC Deafness, autosomal dominant 56
TOPORS Retitinis pigmentosa 31
TOR1A Dystonia 1, torsion
TRPM6 Hypomagnesemia 1, intestinal
VPS13A Choreoacanthocytosis
WDR34 Short -rib thoracic dysplasia 11 with or without polydactyly

Genes at HGMD

Summary

Number of Variants: 3848
Number of Genes: 368

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 hp37_1_filt_10x 9 rs2246841
dbSNP
107602666 188.77 C T PASS 0/1 30 SYNONYMOUS_CODING LOW SILENT 0.15256 0.15260 0.14939 None None None None None None None
View hp37_1_filt_10x 9 rs2230808
dbSNP
107562804 319.77 T C PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.53834 0.53830 0.41496 0.61 0.09 None None None None None None None
View hp37_1_filt_10x 9 rs2230806
dbSNP
107620867 467.77 C T PASS 1/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43970 0.43970 0.39151 0.66 0.00 None None None None None None None
View hp37_1_filt_10x 9 rs2230805
dbSNP
107624029 883.77 C T PASS 1/1 34 SYNONYMOUS_CODING LOW SILENT 0.37240 0.37240 0.32224 None None None None None None None

ABCA2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 9 rs908832
dbSNP
139912484 627.77 A G PASS 1/1 27 SYNONYMOUS_CODING LOW SILENT 0.96386 0.96390 0.03809 None None None None None None None
View hp37_1_filt_10x 9 rs908828
dbSNP
139913239 763.77 T G PASS 1/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.00008 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 9 rs2271862
dbSNP
139906359 361.77 G A PASS 0/1 57 SYNONYMOUS_CODING LOW SILENT 0.68730 0.68730 0.32231 None None None None None None None
View hp37_1_filt_10x 9 rs7048567
dbSNP
139904037 209.77 A G PASS 0/1 22 SYNONYMOUS_CODING LOW SILENT 0.72005 0.72000 0.29152 None None None None None None None

ACER2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 9 rs7855739
dbSNP
19450598 539.77 G C PASS 0/1 45 SYNONYMOUS_CODING LOW SILENT 0.07488 0.07488 0.07935 None None None None None None None
View hp37_1_filt_10x 9 rs41270115
dbSNP
19435011 313.77 T C PASS 0/1 38 SYNONYMOUS_CODING LOW SILENT 0.00260 0.00260 0.00861 None None None None None None None

ACO1

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 hp37_1_filt_10x 9 rs556592191
dbSNP
32420998 372.77 G A PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00060 0.00060 0.20 0.00 None None None None None None None
View hp37_1_filt_10x 9 rs3780473
dbSNP
32425910 1495.77 A G PASS 1/1 60 SYNONYMOUS_CODING LOW SILENT 0.35383 0.35380 0.32693 None None None None None None None
View hp37_1_filt_10x 9 rs747753467
dbSNP
32429417 203.77 G A PASS 0/1 39 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT None None None None None None None

ACTL7A

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 9 rs7872077
dbSNP
111625620 752.77 G A PASS 0/1 70 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08906 0.08906 0.04929 0.31 0.08 None None None None None None None
View hp37_1_filt_10x 9 rs3739693
dbSNP
111625259 436.77 G A PASS 0/1 32 SYNONYMOUS_CODING LOW SILENT 0.08407 0.08407 0.04367 None None None None None None None

ACTL7B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 9 rs3750467
dbSNP
111617341 147.77 A G PASS 0/1 19 SYNONYMOUS_CODING LOW SILENT 0.12820 0.12820 0.10661 None None None None None None None
View hp37_1_filt_10x 9 rs10979557
dbSNP
111617389 164.77 C T PASS 0/1 29 SYNONYMOUS_CODING LOW SILENT 0.03335 0.03335 0.01054 None None None None None None None

ADAMTSL1

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 hp37_1_filt_10x 9 rs2277160
dbSNP
18504916 582.77 T A PASS 1/1 24 SYNONYMOUS_CODING LOW SILENT 0.57089 0.57090 0.40643 None None None None None None None
View hp37_1_filt_10x 9 rs13293151
dbSNP
18681821 300.77 A G PASS 0/1 30 SYNONYMOUS_CODING LOW SILENT 0.27716 0.27720 0.32608 6.08 None None None None None None None
View hp37_1_filt_10x 9 rs35525189,rs796576662
dbSNP
18826261 776.73 GT G PASS 1/1 42 None None None None None None None None None None
View hp37_1_filt_10x 9 rs7033684
dbSNP
18777368 698.77 T C PASS 1/1 28 SYNONYMOUS_CODING LOW SILENT 0.68930 0.68930 0.28568 2.02 None None None None None None None
View hp37_1_filt_10x 9 rs1549986
dbSNP
18776840 273.8 A C PASS 1/1 12 SYNONYMOUS_CODING LOW SILENT 0.97205 0.97200 0.06223 1.80 None None None None None None None

ADAMTSL2

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 hp37_1_filt_10x 9 rs140552546
dbSNP
136433778 72.77 G A PASS 0/1 10 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View hp37_1_filt_10x 9 rs143098312
dbSNP
136434610 215.77 C G PASS 0/1 32 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View hp37_1_filt_10x 9 rs2073875
dbSNP
136412236 328.77 A T PASS 0/1 41 SYNONYMOUS_CODING LOW SILENT 0.72464 0.72460 0.12448 None None None None None None None
View hp37_1_filt_10x 9 rs1064975
dbSNP
136434598 284.77 A G PASS 0/1 34 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View hp37_1_filt_10x 9 rs2073874
dbSNP
136412170 432.77 C T PASS 0/1 38 SYNONYMOUS_CODING LOW SILENT 0.72404 0.72400 0.12464 None None None None None None None
View hp37_1_filt_10x 9 rs2073876
dbSNP
136412255 232.77 A C PASS 0/1 38 SYNONYMOUS_CODING LOW SILENT 0.72464 0.72460 0.12440 None None None None None None None

AIF1L

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View hp37_1_filt_10x 9 rs353510
dbSNP
133996503 263.77 T A PASS 0/1 26 None None None 0.64537 0.64540 None None None None None None None

AKNA

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 9 rs10982174
dbSNP
117110180 107.77 G A PASS 0/1 21 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.03874 0.03874 0.02478 None None None None None None None
View hp37_1_filt_10x 9 rs902492
dbSNP
117108971 301.77 C T PASS 0/1 35 SYNONYMOUS_CODING LOW SILENT 0.11801 0.11800 0.10372 None None None None None None None
View hp37_1_filt_10x 9 rs1265891
dbSNP
117110112 221.77 T C PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20986 0.20990 0.16741 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 9 rs61744863
dbSNP
117120333 52.77 G A PASS 0/1 19 SYNONYMOUS_CODING LOW SILENT 0.03355 0.03355 0.02906 None None None None None None None

AL358113.1

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 9 rs3812536
dbSNP
71869473 172.77 G A PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.45667 0.45670 0.00 None None None None None None None

ALAD

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 9 rs8177807
dbSNP
116152891 258.77 A G PASS 0/1 26 SYNONYMOUS_CODING LOW SILENT 0.08906 0.08906 0.08250 None None None None None None None
View hp37_1_filt_10x 9 rs1139488
dbSNP
116153900 339.77 A G PASS 0/1 22 SYNONYMOUS_CODING LOW SILENT 0.35224 0.35220 0.35422 None None None None None None None
View hp37_1_filt_10x 9 rs1800435
dbSNP
116153891 131.77 C G PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06350 0.06350 0.06020 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 9 rs2228083
dbSNP
116152940 341.77 G A PASS 0/1 34 SYNONYMOUS_CODING LOW SILENT 0.07867 0.07867 0.08204 None None None None None None None

ALDH1B1

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 9 rs4878199
dbSNP
38396502 740.77 G A PASS 1/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.93850 0.93850 0.07812 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 9 rs2228094
dbSNP
38395940 869.77 T C PASS 1/1 33 SYNONYMOUS_CODING LOW SILENT 0.93670 0.93670 0.07919 None None None None None None None
View hp37_1_filt_10x 9 rs2073478
dbSNP
38396065 839.77 G T PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39497 0.39500 0.49669 0.00 0.13 None None None None None None None

ALG2

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 9 rs11545137
dbSNP
101984146 139.77 A G PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03834 0.03834 0.05172 0.60 0.00 None None None None None None None
View hp37_1_filt_10x 9 rs35626507
dbSNP
101980367 276.77 A G PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03834 0.03834 0.05859 0.36 0.00 None None None None None None None

ANGPTL2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 9 rs2297866
dbSNP
129854199 213.77 G A PASS 0/1 17 SYNONYMOUS_CODING LOW SILENT 0.29054 0.29050 0.36191 None None None None None None None

ANKRD18A

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 9 rs1832313
dbSNP
38615698 253.77 C T PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42173 0.42170 0.41984 1.00 0.00 4.53 None None None None None None None
View hp37_1_filt_10x 9 rs192086168
dbSNP
38596059 1065.77 C T PASS 0/1 86 SYNONYMOUS_CODING LOW SILENT 0.01378 0.01378 0.00767 None None None None None None None
View hp37_1_filt_10x 9 rs150196189
dbSNP
38586247 223.77 C T PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03215 0.03215 0.02240 0.24 0.48 -0.27 None None None None None None None

ANKRD20A4

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 9 rs199524000
dbSNP
69385945 63.77 C T PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.99 None None None None None None None

ANKS6

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 9 rs6415847
dbSNP
101533220 353.78 C T PASS 1/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.87520 0.87520 0.03696 0.99 0.00 None None None None None None None
View hp37_1_filt_10x 9 rs541536154
dbSNP
101546395 158.77 G T PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00060 0.00060 0.05 0.01 None None None None None None None
View hp37_1_filt_10x 9 rs76903503
dbSNP
101558444 110.77 G A PASS 0/1 10 SYNONYMOUS_CODING LOW SILENT 0.12380 0.12380 None None None None None None None

ANXA1

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 9 rs1050305
dbSNP
75775235 429.77 A G PASS 0/1 50 SYNONYMOUS_CODING LOW SILENT 0.14996 0.15000 0.12856 None None None None None None None

AQP3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 9 rs591810
dbSNP
33447424 427.77 C G PASS 1/1 18 SYNONYMOUS_CODING LOW SILENT 0.74121 0.74120 0.25759 None None None None None None None

AQP7

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 9 rs79172651
dbSNP
33386167 37.77 G C PASS 0/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 9 rs642636
dbSNP
33395196 623.77 A G PASS 1/1 32 None None None 0.99082 0.99080 0.00692 None None None None None None None

ARID3C

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 9 rs3808869
dbSNP
34622389 229.77 A C PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60244 0.60240 0.41558 0.68 0.00 None None None None None None None

ASB6

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 9 rs3739851
dbSNP
132400480 586.77 G A PASS 0/1 53 SYNONYMOUS_CODING LOW SILENT 0.46146 0.46150 0.47178 None None None None None None None

ASPN

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 9 rs4744132
dbSNP
95219597 1552.77 G A PASS 1/1 61 SYNONYMOUS_CODING LOW SILENT 0.99101 0.99100 0.01261 None None None None None None None
View hp37_1_filt_10x 9 rs397838876,rs557103556
dbSNP
95237024 533.73 CTCA C PASS 0/1 35 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None

ASTN2

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 9 rs61736198
dbSNP
119770495 239.77 G A PASS 0/1 23 SYNONYMOUS_CODING LOW SILENT 0.00759 0.00759 0.00384 None None None None None None None
View hp37_1_filt_10x 9 rs7863560
dbSNP
119495697 532.77 T C PASS 1/1 22 SYNONYMOUS_CODING LOW SILENT 0.99241 0.99240 0.00484 None None None None None None None
View hp37_1_filt_10x 9 rs7848630
dbSNP
120053776 437.77 T C PASS 1/1 18 SYNONYMOUS_CODING LOW SILENT 0.96466 0.96470 0.03360 None None None None None None None
View hp37_1_filt_10x 9 rs3761845
dbSNP
119770480 173.77 C T PASS 0/1 23 SYNONYMOUS_CODING LOW SILENT 0.48982 0.48980 0.43357 None None None None None None None
View hp37_1_filt_10x 9 rs72765708
dbSNP
119491277 56.77 C T PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04173 0.04173 0.09454 0.12 0.00 None None None None None None None

BAAT

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 9 rs61755096
dbSNP
104125056 675.77 A G PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01538 0.01538 0.02307 0.60 0.00 None None None None None None None
View hp37_1_filt_10x 9 rs1572983
dbSNP
104133628 977.77 C T PASS 1/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.56290 0.56290 0.36860 0.44 0.02 None None None None None None None

BAG1

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 9 rs1071545
dbSNP
33264540 279.78 C G PASS 1/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97943 0.97940 0.01767 0.02 0.00 None None None None None None None

BRD3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 9 rs467387
dbSNP
136907005 188.77 G A PASS 0/1 33 SYNONYMOUS_CODING LOW SILENT 0.33546 0.33550 0.21194 None None None None None None None
View hp37_1_filt_10x 9 rs464826
dbSNP
136913355 217.77 T C PASS 0/1 23 SYNONYMOUS_CODING LOW SILENT 0.72504 0.72500 0.29230 None None None None None None None

BRINP1

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 9 rs1043379
dbSNP
121930307 224.77 G A PASS 0/1 19 SYNONYMOUS_CODING LOW SILENT 0.02236 0.02236 0.04975 None None None None None None None

BSPRY

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 9 rs818711
dbSNP
116132092 260.77 G C PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06010 0.06010 0.04337 0.11 0.01 None None None None None None None

C5

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 9 rs25681
dbSNP
123780005 304.77 G A PASS 0/1 44 SYNONYMOUS_CODING LOW SILENT 0.40575 0.40580 0.32454 None None None None None None None
View hp37_1_filt_10x 9 rs564964646
dbSNP
123812461 482.77 T C PASS 0/1 51 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00140 0.00140 0.03 0.10 None None None None None None None
View hp37_1_filt_10x 9 rs12237774
dbSNP
123725971 293.77 C T PASS 0/1 39 SYNONYMOUS_CODING LOW SILENT 0.10663 0.10660 0.07158 None None None None None None None

C8G

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View hp37_1_filt_10x 9 rs2071006
dbSNP
139839904 322.78 T G PASS 1/1 16 SYNONYMOUS_CODING LOW SILENT 0.56769 0.56770 0.45217 None None None None None None None
View hp37_1_filt_10x 9 rs7850844
dbSNP
139840543 1186.77 A G PASS 1/1 46 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96725 0.96730 0.04834 1.00 0.00 None None None None None None None

C9orf114

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 9 rs6478854
dbSNP
131588888 423.77 G C PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46146 0.46150 0.42027 0.55 0.00 None None None None None None None
View hp37_1_filt_10x 9 rs2280843
dbSNP
131585069 32.77 A G PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60383 0.60380 0.37801 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 9 rs7033070
dbSNP
131586374 229.77 G A PASS 0/1 17 SYNONYMOUS_CODING LOW SILENT 0.35982 0.35980 0.33092 None None None None None None None

C9orf116

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 9 rs7037251
dbSNP
138391299 143.77 T A PASS 0/1 25 None None None 0.57927 0.57930 0.72 0.00 None None None None None None None

C9orf117

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 9 rs497632
dbSNP
130475442 344.77 A C PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.53674 0.53670 0.41920 0.18 0.08 None None None None None None None
View hp37_1_filt_10x 9 rs522328
dbSNP
130475011 845.77 T C PASS 0/1 68 SYNONYMOUS_CODING LOW SILENT 0.63738 0.63740 0.33645 None None None None None None None

C9orf129

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 9 rs3122944
dbSNP
96097747 714.77 C T PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63059 0.63060 0.01 0.02 None None None None None None None
View hp37_1_filt_10x 9 rs62574460
dbSNP
96097673 202.77 G A PASS 0/1 38 SYNONYMOUS_CODING LOW SILENT 0.26917 0.26920 None None None None None None None

C9orf131

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 9 rs615474
dbSNP
35043291 403.77 G T PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.65395 0.65400 0.28779 1.00 0.00 None None None None None None None

C9orf135

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 9 rs10780682
dbSNP
72472831 1272.77 C T PASS 1/1 49 SYNONYMOUS_CODING LOW SILENT 0.27057 0.27060 0.26872 None None None None None None None

C9orf141

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 9 rs11790360
dbSNP
139866247 154.77 T G PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35803 0.35800 0.79 0.00 None None None None None None None

C9orf147

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 9 rs7031191
dbSNP
115249433 363.77 T C PASS 1/1 18 SYNONYMOUS_CODING LOW SILENT 0.95128 0.95130 None None None None None None None

C9orf152

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 9 rs4978888
dbSNP
112963702 1499.77 G A PASS 1/1 58 SYNONYMOUS_CODING LOW SILENT 0.21805 0.21810 0.20460 None None None None None None None
View hp37_1_filt_10x 9 rs10120707
dbSNP
112963504 1762.77 A G PASS 1/1 68 SYNONYMOUS_CODING LOW SILENT 0.96905 0.96900 0.07566 None None None None None None None

C9orf156

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 9 rs2282192
dbSNP
100672338 468.77 C T PASS 0/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.58926 0.58930 0.41927 0.10 0.01 None None None None None None None

C9orf171

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 9 rs7047726
dbSNP
135374764 303.77 G A PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18630 0.18630 0.08727 0.00 0.99 None None None None None None None
View hp37_1_filt_10x 9 rs562350
dbSNP
135374898 385.77 T C PASS 0/1 29 SYNONYMOUS_CODING LOW SILENT 0.67832 0.67830 0.37537 None None None None None None None

C9orf173

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 9 rs28376526
dbSNP
140147152 259.78 C G PASS 1/1 11 SYNONYMOUS_CODING LOW SILENT 0.60982 0.60980 0.31119 None None None None None None None

C9orf24

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 9 rs11790577
dbSNP
34397545 185.77 A G PASS 0/1 27 SYNONYMOUS_CODING LOW SILENT 0.40435 0.40440 0.45125 None None None None None None None

C9orf3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 9 rs10761364
dbSNP
97768286 273.77 T C PASS 0/1 25 None None None 0.69149 0.69150 0.07 0.00 None None None None None None None

C9orf40

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 9 rs2769058
dbSNP
77563087 422.77 C T PASS 0/1 37 SYNONYMOUS_CODING LOW SILENT 0.32328 0.32330 0.30225 None None None None None None None

C9orf43

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 hp37_1_filt_10x 9 rs111748634
dbSNP
116187302 341.77 C G PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04014 0.04014 0.04213 0.01 1.00 3.31 None None None None None None None
View hp37_1_filt_10x 9 rs111841972
dbSNP
116191205 184.77 A C PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03954 0.03954 0.04229 0.44 0.00 None None None None None None None

C9orf50

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 hp37_1_filt_10x 9 rs3087721
dbSNP
132374678 383.77 T C PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01997 0.01997 0.04298 0.10 0.18 None None None None None None None