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Genes:
ABCA1, ABCA2, ABL1, ACTL7A, ACTL7B, ADAMTS13, ADAMTSL1, ADAMTSL2, AK1, AKAP2, AKNA, AL445665.1, AL807752.1, ALAD, ALDH1B1, ANKRD18A, ANKRD20A1, ANKS6, AQP7, ARID3C, ASPN, ASTN2, BAAT, BAG1, BARHL1, BSPRY, C5, C8G, C9orf114, C9orf117, C9orf129, C9orf139, C9orf141, C9orf142, C9orf152, C9orf172, C9orf43, C9orf50, C9orf66, C9orf69, C9orf72, C9orf84, C9orf89, CACFD1, CACNA1B, CARD9, CCDC180, CCDC183, CCL19, CCL27, CDK5RAP2, CER1, CIZ1, CNTFR, CNTLN, CNTNAP3, CNTNAP3B, CNTRL, COL15A1, COL27A1, COL5A1, COQ4, CORO2A, CRB2, CTNNAL1, CTSL, CYLC2, DAPK1, DBH, DDX31, DDX58, DEC1, DFNB31, DNAI1, DNM1, DOCK8, DOLPP1, DPH7, ENG, ENTPD2, EQTN, EXD3, EXOSC2, EXOSC3, FAM120A, FAM120AOS, FAM166B, FAM189A2, FAM205A, FAM214B, FAM78A, FBP1, FBXO10, FCN1, FCN2, FGD3, FOCAD, FOXB2, FOXD4, FOXD4L5, FOXD4L6, FOXE1, FPGS, FREM1, FRMPD1, FUBP3, FXN, GAPVD1, GBGT1, GDA, GLDC, GLE1, GLIS3, GNA14, GOLGA1, GOLGA2, GPR144, GPSM1, GRHPR, GRIN1, GRIN3A, GTF3C4, IARS, IFNA10, IFNA14, IFNA16, IFNA17, IFNA4, IFNA5, IKBKAP, INPP5E, INSL4, INVS, JAK2, KANK1, KCNT1, KCNV2, KDM4C, KIAA0368, KIAA1958, KIF24, KIF27, KLHL9, LAMC3, LCN6, LCN9, LHX6, LMX1B, LRRC8A, LRSAM1, LURAP1L, MAMDC4, MAN1B1, MAPKAP1, MLLT3, MPDZ, MUSK, NAA35, NACC2, NCS1, NDOR1, NDUFA8, NFX1, NINJ1, NIPSNAP3B, NOL6, NOL8, NOTCH1, NOXA1, NPDC1, NPR2, NTMT1, NUP188, NUP214, OLFM1, OR13C5, OR13D1, OR1N1, OR1N2, OR2K2, OR2S2, OR5C1, ORM2, PALM2-AKAP2, PAPPA, PAX5, PCSK5, PDCD1LG2, PHYHD1, PIP5K1B, PMPCA, PNPLA7, POMT1, PPAPDC3, PRRC2B, PRSS3, PRUNE2, PSAT1, PTCH1, PTGDS, PTGES, PTGES2, PTGS1, PTPDC1, PTPN3, PTPRD, RABL6, RALGDS, RAPGEF1, RGS3, RMI1, ROR2, RP11-145E5.5, RPS6, RUSC2, RXRA, SAPCD2, SARDH, SDCCAG3, SEC16A, SETX, SLC1A1, SLC24A2, SLC25A25, SLC28A3, SLC34A3, SLC44A1, SMARCA2, SNAPC4, SOHLH1, SPATA31A1, SPATA31A3, SPATA31A4, SPATA31A6, SPATA31A7, SPATA31D1, SPATA31E1, SPATA6L, SPINK4, SPTAN1, STX17, SURF6, SVEP1, TEK, TESK1, TJP2, TLE4, TLN1, TLR4, TMEM2, TNC, TNFSF15, TPD52L3, TPRN, TRIM32, TRPM3, TRPM6, TTC16, TUSC1, UAP1L1, UBQLN1, UCK1, VPS13A, WDR34, WDR38, WNK2, ZBTB43, ZDHHC12, ZNF189, ZNF484, ZNF618, ZNF658, ZNF782,

Genes at Omim

ABCA1, ABL1, ADAMTS13, ADAMTSL2, AK1, ALAD, ANKS6, AQP7, ASPN, BAAT, C5, C9orf72, CACNA1B, CARD9, CDK5RAP2, COL27A1, COL5A1, COQ4, CRB2, DBH, DDX58, DNAI1, DNM1, DOCK8, ENG, EXOSC2, EXOSC3, FBP1, FOXE1, FREM1, FXN, GLDC, GLE1, GLIS3, GRHPR, GRIN1, IARS, IKBKAP, INPP5E, INVS, JAK2, KANK1, KCNT1, KCNV2, LAMC3, LMX1B, LRRC8A, LRSAM1, MAN1B1, MPDZ, MUSK, NOTCH1, NPR2, NUP214, PAX5, PMPCA, POMT1, PSAT1, PTCH1, ROR2, RUSC2, SARDH, SETX, SLC1A1, SLC34A3, SMARCA2, SOHLH1, SPTAN1, TEK, TJP2, TNC, TPRN, TRIM32, TRPM6, 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)
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)
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)
CARD9 Candidiasis, familial, 2, autosomal recessive, 212050 (3)
CDK5RAP2 Microcephaly 3, primary, autosomal recessive, 604804 (3)
COL27A1 Steel syndrome, 615155 (3)
COL5A1 Ehlers-Danlos syndrome, classic type, 1, 130000 (3)
COQ4 Coenzyme Q10 deficiency, primary, 7, 616276 (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)
ENG Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3)
EXOSC2 Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, 617763 (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)
FXN Friedreich ataxia with retained reflexes, 229300 (3)
Friedreich ataxia, 229300 (3)
GLDC Glycine encephalopathy, 605899 (3)
GLE1 Congenital arthrogryposis with anterior horn cell disease, 611890 (3)
Lethal congenital contracture syndrome 1, 253310 (3)
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)
GRHPR Hyperoxaluria, primary, type II, 260000 (3)
GRIN1 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 (3)
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820 (3)
IARS Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 (3)
IKBKAP Dysautonomia, familial, 223900 (3)
INPP5E Joubert syndrome 1, 213300 (3)
Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)
INVS Nephronophthisis 2, infantile, 602088 (3)
JAK2 Leukemia, acute myeloid, somatic, 601626 (3)
Erythrocytosis, somatic, 133100 (3)
Myelofibrosis, somatic, 254450 (3)
Polycythemia vera, somatic, 263300 (3)
Thrombocythemia 3, 614521 (3)
{Budd-Chiari syndrome, somatic}, 600880 (3)
KANK1 Cerebral palsy, spastic quadriplegic, 2, 612900 (3)
KCNT1 Epilepsy, nocturnal frontal lobe, 5, 615005 (3)
Epileptic encephalopathy, early infantile, 14, 614959 (3)
KCNV2 Retinal cone dystrophy 3B, 610356 (3)
LAMC3 Cortical malformations, occipital, 614115 (3)
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)
MUSK Fetal akinesia deformation sequence, 208150 (3)
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3)
NOTCH1 Adams-Oliver syndrome 5, 616028 (3)
Aortic valve disease 1, 109730 (3)
NPR2 Epiphyseal chondrodysplasia, Miura type, 615923 (3)
Acromesomelic dysplasia, Maroteaux type, 602875 (3)
Short stature with nonspecific skeletal abnormalities, 616255 (3)
NUP214 Leukemia, T-cell acute lymphoblastic, somatic, 613065 (3)
Leukemia, acute myeloid, somatic, 601626 (3)
PAX5 {Leukemia, acute lymphoblastic, susceptibility to, 3}, 615545 (3)
PMPCA Spinocerebellar ataxia, autosomal recessive 2, 213200 (3)
POMT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3)
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)
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)
TEK Glaucoma 3, primary congenital, E, 617272 (3)
Venous malformations, multiple cutaneous and mucosal, 600195 (3)
TJP2 Cholestasis, progressive familial intrahepatic 4, 615878 (3)
Hypercholanemia, familial, 607748 (3)
TNC Deafness, autosomal dominant 56, 615629 (3)
TPRN Deafness, autosomal recessive 79, 613307 (3)
TRIM32 Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110 (3)
?Bardet-Biedl syndrome 11, 615988 (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, ADAMTS13, ADAMTSL2, AK1, ALAD, ANKS6, BAAT, C5, CACNA1B, CARD9, CDK5RAP2, CIZ1, COL27A1, COL5A1, COQ4, CRB2, DBH, DDX58, DNAI1, DNM1, DOCK8, ENG, EXOSC3, FBP1, FOXE1, FREM1, FXN, GLDC, GLE1, GLIS3, GRHPR, GRIN1, IKBKAP, INPP5E, INVS, JAK2, KANK1, KCNT1, KCNV2, LAMC3, LMX1B, LRRC8A, LRSAM1, MAN1B1, MPDZ, MUSK, NOTCH1, NPR2, PAX5, PMPCA, POMT1, PSAT1, PTCH1, ROR2, SETX, SLC1A1, SLC34A3, SMARCA2, SPTAN1, TEK, TJP2, TNC, TPRN, TRIM32, TRPM6, 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
BAAT Hypercholanemia, familial
C5 Eculizumab, poor response to
Complement component 5 deficiency
CACNA1B Dystonia 23
CARD9 Candidiasis, familial, 2
CDK5RAP2 Microcephaly, primary autosomal recessive, 3
CIZ1 Primary cervical dystonia, adult-onset
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
ENG Hereditary hemorrhagic telangiectasia, type 1
Juvenile polyposis syndrome
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
GLDC Glycine encephalopathy
GLE1 Arthrogryposis, lethal, with anterior horn cell disease
Lethal congenital contracture syndrome 1
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism
GRHPR Hyperoxaluria, primary, type II
GRIN1 Mental retardation, autosomal dominant 8
IKBKAP Dysautonomia, familial
INPP5E Joubert syndrome 1
Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)
INVS Nephronophthisis 2
JAK2 Thrombocythemia 3
KANK1 Cerebral palsy, spastic quadriplegic, 2
KCNT1 Epilepsy, nocturnal frontal lobe, 5
Early infantile epileptic encephalopathy 14
KCNV2 Retinal cone dystrophy 3B
LAMC3 Cortical malformations, occipital
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
MUSK Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
NOTCH1 Aortic valve disease
NPR2 Epiphyseal chondrodysplasia, Miura type
Short stature with nonspecific skeletal abnormalities
Acromesomelic dysplasia, Maroteaux type
PAX5 Pre-B cell acute lymphoblastic leukemia
PMPCA Spinocerebellar ataxia, autosomal recessive 2
POMT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
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
TEK Venous malformations, multiple cutaneous and mucosal
TJP2 Hypercholanemia, familial
Cholestasis, progressive familial intrahepatic 4
TNC Deafness, autosomal dominant 56
TPRN Deafness, autosomal recessive 79
TRIM32 Muscular dystrophy, limb-girdle, type 2H
Bardet-Biedl syndrome 11
TRPM6 Hypomagnesemia 1, intestinal
VPS13A Choreoacanthocytosis
WDR34 Short -rib thoracic dysplasia 11 with or without polydactyly

Genes at HGMD

Summary

Number of Variants: 1036
Number of Genes: 273

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 15ac02302_s1 genome 9 rs2230808
dbSNP Clinvar
107562804 1486.75 T C PASS 0/1 119 NON_SYNONYMOUS_CODING MODERATE None 0.53834 0.53830 0.41496 0.61 0.09 None None None None None None ABCA1|0.668333708|9.43%
View 15ac02302_s1 genome 9 rs2230805
dbSNP Clinvar
107624029 1421.37 C T PASS 0/1 100 SYNONYMOUS_CODING LOW None 0.37240 0.37240 0.32224 None None None None None None ABCA1|0.668333708|9.43%
View 15ac02302_s1 genome 9 rs2230806
dbSNP Clinvar
107620867 861.04 C T PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.43970 0.43970 0.39151 0.66 0.00 None None None None None None ABCA1|0.668333708|9.43%
View 15ac02302_s1 genome 9 rs35871586
dbSNP Clinvar
107581949 784.4 A C PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.00419 0.00419 0.00784 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 15ac02302_s1 genome 9 rs7048567
dbSNP Clinvar
139904037 4721.7 A G PASS 1/1 155 SYNONYMOUS_CODING LOW None 0.72005 0.72000 0.29152 None None None None None None ABCA2|0.074227496|56.47%
View 15ac02302_s1 genome 9 rs908828
dbSNP Clinvar
139913239 4773.24 T G PASS 1/1 143 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 15ac02302_s1 genome 9 . 139905015 89.76 A C SB 0/1 37 None None None None None None None None None ABCA2|0.074227496|56.47%
View 15ac02302_s1 genome 9 rs908832
dbSNP Clinvar
139912484 8177.93 A G PASS 1/1 260 SYNONYMOUS_CODING LOW None 0.96386 0.96390 0.03809 None None None None None None ABCA2|0.074227496|56.47%
View 15ac02302_s1 genome 9 rs4880189
dbSNP Clinvar
139923265 7849.22 A G PASS 1/1 253 None None None 0.76657 0.76660 0.22882 None None None None None None ABCA2|0.074227496|56.47%,C9orf139|0.000737675|97.09%
View 15ac02302_s1 genome 9 rs2271862
dbSNP Clinvar
139906359 8960.92 G A PASS 1/1 341 SYNONYMOUS_CODING LOW None 0.68730 0.68730 0.32231 None None None None None None ABCA2|0.074227496|56.47%

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 15ac02302_s1 genome 9 . 133759506 3.07 C G LowGQX;LowQD;SB 0/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.36 None None None None None None ABL1|0.915754224|3.1%
View 15ac02302_s1 genome 9 . 133759564 9.8 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.66 0.01 None None None None None None ABL1|0.915754224|3.1%

ACTL7A

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 15ac02302_s1 genome 9 rs200711916
dbSNP Clinvar
111625749 9.8 C T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00023 0.00 1.00 None None None None None None ACTL7A|0.047459247|63.47%

ACTL7B

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 15ac02302_s1 genome 9 . 111616999 9.8 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.92 0.09 None None None None None None ACTL7B|0.043315867|64.73%

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 15ac02302_s1 genome 9 rs1055432
dbSNP Clinvar
136324239 3355.37 C A PASS 0/1 284 SYNONYMOUS_CODING LOW None 0.23063 0.23060 0.24731 None None None None None None ADAMTS13|0.009367264|81.4%
View 15ac02302_s1 genome 9 rs3118667
dbSNP Clinvar
136291063 917.35 C T PASS 0/1 97 SYNONYMOUS_CODING LOW None 0.58187 0.58190 0.48355 None None None None None None ADAMTS13|0.009367264|81.4%
View 15ac02302_s1 genome 9 rs2301612
dbSNP Clinvar
136301982 974.68 C G PASS 0/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.27157 0.27160 0.30130 1.00 0.00 None None None None None None ADAMTS13|0.009367264|81.4%
View 15ac02302_s1 genome 9 rs3124768
dbSNP Clinvar
136304497 1465.29 A G PASS 0/1 111 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.51597 0.51600 0.41542 None None None None None None ADAMTS13|0.009367264|81.4%
View 15ac02302_s1 genome 9 rs3124767
dbSNP Clinvar
136308542 2309.65 C T PASS 0/1 235 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 15ac02302_s1 genome 9 rs13293151
dbSNP Clinvar
18681821 9.8 A G LowGQ;LowGQX;SB 1/1 1 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 15ac02302_s1 genome 9 . 18770716 9.8 C A LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None ADAMTSL1|0.674544897|9.24%

ADAMTSL2

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 15ac02302_s1 genome 9 rs2073875
dbSNP Clinvar
136412236 1889.9 A T PASS 1/1 75 SYNONYMOUS_CODING LOW None 0.72464 0.72460 0.12448 None None None None None None ADAMTSL2|0.0506365|62.46%
View 15ac02302_s1 genome 9 rs2073874
dbSNP Clinvar
136412170 1034.73 C T PASS 1/1 37 SYNONYMOUS_CODING LOW None 0.72404 0.72400 0.12464 None None None None None None ADAMTSL2|0.0506365|62.46%
View 15ac02302_s1 genome 9 rs2073877
dbSNP Clinvar
136412296 728.31 C T PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.09585 0.09585 0.09803 None None None None None None ADAMTSL2|0.0506365|62.46%
View 15ac02302_s1 genome 9 rs1064975
dbSNP Clinvar
136434598 2227.82 A G PASS 1/1 84 SYNONYMOUS_CODING LOW None None None None None None None ADAMTSL2|0.0506365|62.46%
View 15ac02302_s1 genome 9 rs2073876
dbSNP Clinvar
136412255 2020.42 A C PASS 1/1 78 SYNONYMOUS_CODING LOW None 0.72464 0.72460 0.12440 None None None None None None ADAMTSL2|0.0506365|62.46%

AK1

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 15ac02302_s1 genome 9 rs913986
dbSNP Clinvar
130630639 3887.29 A G PASS 1/1 148 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%

AKAP2

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 15ac02302_s1 genome 9 rs78923754
dbSNP Clinvar
112811038 1288.23 C T PASS 0/1 83 None None None 0.07568 0.07568 0.08051 0.11 0.86 None None None None None None PALM2-AKAP2|0.163410266|41.09%,AKAP2|0.121220388|47.25%

AKNA

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 15ac02302_s1 genome 9 . 117099572 4.97 G T LowGQX;LowQD;SB 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.35 None None None None None None AKNA|0.005369534|85.34%

AL445665.1

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 15ac02302_s1 genome 9 rs879189439
dbSNP Clinvar
69653115 186.11 A G LowMQ;LowQD 0/1 107 NON_SYNONYMOUS_CODING MODERATE None 0.01 1.00 None None None None None None None

AL807752.1

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 15ac02302_s1 genome 9 . 139980928 7.08 A C LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None None
View 15ac02302_s1 genome 9 . 139980959 3.07 A C LowGQX;LowQD;SB 0/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None None

ALAD

Omim - GeneCards - NCBI
Options Individual Chr
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02302_s1 genome 9 rs1139488
dbSNP Clinvar
116153900 862.48 A G PASS 0/1 88 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.35224 0.35220 0.35422 None None None None None None ALAD|0.24202063|32.28%

ALDH1B1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02302_s1 genome 9 rs2073478
dbSNP Clinvar
38396065 4.59 G T LowGQX;LowQD 0/1 7 NON_SYNONYMOUS_CODING MODERATE None 0.39497 0.39500 0.49669 0.00 0.13 None None None None None None ALDH1B1|0.096225216|51.9%
View 15ac02302_s1 genome 9 . 38396308 9.8 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None ALDH1B1|0.096225216|51.9%
View 15ac02302_s1 genome 9 rs2228094
dbSNP Clinvar
38395940 44.2 T C LowGQ;LowGQX 1/1 2 SYNONYMOUS_CODING LOW None 0.93670 0.93670 0.07919 None None None None None None ALDH1B1|0.096225216|51.9%
View 15ac02302_s1 genome 9 rs4646773
dbSNP Clinvar
38396350 3.07 C T LowGQX;LowQD;SB 0/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.01 0.17 3.51 0.07 0.72073 D None None None None ALDH1B1|0.096225216|51.9%
View 15ac02302_s1 genome 9 rs4878199
dbSNP Clinvar
38396502 507.85 G A SB 1/1 14 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%

ANKRD18A

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 15ac02302_s1 genome 9 . 38543294 9.8 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.04 None None None None None None ANKRD18A|0.001240448|94.24%

ANKRD20A1

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 15ac02302_s1 genome 9 rs371916980
dbSNP Clinvar
67926886 9.8 G C LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.91 None None None None None None ANKRD20A1|0.001623081|92.24%
View 15ac02302_s1 genome 9 rs757153521
dbSNP Clinvar
67927001 9.8 A G LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None ANKRD20A1|0.001623081|92.24%
View 15ac02302_s1 genome 9 rs764184641
dbSNP Clinvar
67926932 9.8 C T LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None ANKRD20A1|0.001623081|92.24%
View 15ac02302_s1 genome 9 rs199768362
dbSNP Clinvar
67926929 9.8 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.89 0.74 None None None None None None ANKRD20A1|0.001623081|92.24%
View 15ac02302_s1 genome 9 rs774865200
dbSNP Clinvar
67926923 9.8 C T LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None ANKRD20A1|0.001623081|92.24%

ANKS6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02302_s1 genome 9 . 101494827 9.8 C A LowGQ;LowGQX;SB 1/1 1 None None None 0.06 0.17 None None None None None None ANKS6|0.10473239|50.29%

AQP7

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 15ac02302_s1 genome 9 rs74557595
dbSNP Clinvar
33385287 426.84 T C PASS 0/1 172 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.15 0.00 None None None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs748663677
dbSNP Clinvar
33385583 14.56 A C LowGQX;LowQD;SB 0/1 33 None None None 0.00 0.00 None None None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs117066088
dbSNP Clinvar
33385600 15.5 G A LowGQX;LowQD;SB 0/1 53 None None None 0.00 0.00 None None None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs79172651
dbSNP Clinvar
33386167 188.66 G C LowQD 0/1 136 NON_SYNONYMOUS_CODING MODERATE None 0.00020 1.00 0.00 None None None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs76209395
dbSNP Clinvar
33386144 42.29 G A LowQD;SB 0/1 166 SYNONYMOUS_CODING LOW None 4.77 0.04 0.59886 D None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs642636
dbSNP Clinvar
33395196 2369.64 A G PASS 1/1 89 None None None 0.99082 0.99080 0.00692 None None None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs62542746
dbSNP Clinvar
33385863 1296.44 G T PASS 0/1 158 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.05 0.01 None None None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs202183465
dbSNP Clinvar
33385852 696.26 C T PASS 0/1 158 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.08 None None None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs202043723
dbSNP Clinvar
33385235 88.33 T G LowQD;SB 0/1 184 NON_SYNONYMOUS_CODING MODERATE None 0.14 0.01 None None None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs62542743
dbSNP Clinvar
33385241 1530.94 C A PASS 0/1 195 NON_SYNONYMOUS_CODING MODERATE None 0.02117 0.02117 0.03621 0.00 1.00 2.41 0.02 0.39921 T None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs182339228
dbSNP Clinvar
33391522 9.8 C T LowGQ;LowGQX;SB 1/1 1 None None None None None None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs2381003
dbSNP Clinvar
33395108 41.55 G A LowQD 0/1 83 SYNONYMOUS_CODING LOW None None None None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs62542745
dbSNP Clinvar
33385815 292.69 T C LowQD 0/1 161 NON_SYNONYMOUS_CODING MODERATE None 0.20 0.06 None None None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs73478963
dbSNP Clinvar
33385828 479.83 C T PASS 0/1 168 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.00100 0.02 0.33 None None None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs77962308
dbSNP Clinvar
33386510 828.36 C T PASS 0/1 159 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.01 None None None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs78695486
dbSNP Clinvar
33386469 1164.87 C T PASS 0/1 168 SYNONYMOUS_CODING LOW None 0.00040 0.00040 None None None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs74668961
dbSNP Clinvar
33386465 1138.24 A G PASS 0/1 174 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.41 None None None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs74589499
dbSNP Clinvar
33386430 635.77 C T PASS 0/1 140 SYNONYMOUS_CODING LOW None None None None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs76608797
dbSNP Clinvar
33386146 76.08 C A LowQD;SB 0/1 159 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.08 0.01 None None None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs145413647
dbSNP Clinvar
33385602 75.38 A C LowQD;SB 0/1 53 None None None None None None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs115575789
dbSNP Clinvar
33385712 25.36 G A LowGQX;LowQD;SB 0/1 115 SYNONYMOUS_CODING LOW None 6.81 0.05 0.62529 D None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs201117022
dbSNP Clinvar
33385733 11.38 C T LowGQX;LowQD;SB 0/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.17 0.02 None None None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs201773300
dbSNP Clinvar
33385740 161.87 A T LowQD;SB 0/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.07 0.23 None None None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs73645276
dbSNP Clinvar
33387073 2359.29 G A PASS 0/1 234 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs4008658
dbSNP Clinvar
33387047 2497.45 T G PASS 0/1 255 NON_SYNONYMOUS_CODING MODERATE None 0.29 0.01 None None None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs114484742
dbSNP Clinvar
33385750 229.58 C T LowQD;SB 0/1 122 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.71 None None None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs76863051
dbSNP Clinvar
33387004 2513.52 T C PASS 0/1 241 SYNONYMOUS_CODING LOW None None None None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs117663392
dbSNP Clinvar
33385771 198.08 C T LowQD;SB 0/1 139 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.63 None None None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs114937176
dbSNP Clinvar
33385784 624.75 C G PASS 0/1 133 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.20 None None None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs77244521
dbSNP Clinvar
33386989 2145.52 C G PASS 0/1 199 SYNONYMOUS_CODING LOW None None None None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs79202054
dbSNP Clinvar
33386526 939.67 G A PASS 0/1 158 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 15ac02302_s1 genome 9 rs72707424
dbSNP Clinvar
33386511 827.98 A G PASS 0/1 159 SYNONYMOUS_CODING LOW None None None None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs76908057
dbSNP Clinvar
33385786 659.34 C G PASS 0/1 137 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.01 2.54 None None None None None None AQP7|0.012677613|78.76%
View 15ac02302_s1 genome 9 rs62542744
dbSNP Clinvar
33385808 250.95 G T LowQD 0/1 161 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None AQP7|0.012677613|78.76%

ARID3C

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 15ac02302_s1 genome 9 rs13283357
dbSNP Clinvar
34627940 14.92 C T LowGQ;LowGQX 1/1 2 SYNONYMOUS_CODING LOW None 0.18690 0.18690 0.27163 None None None None None None ARID3C|0.102060317|50.79%

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 15ac02302_s1 genome 9 . 95237026 0.0 C . LowGQX . 40 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%
View 15ac02302_s1 genome 9 rs4744132
dbSNP Clinvar
95219597 4635.26 G A PASS 1/1 152 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 15ac02302_s1 genome 9 rs878929025,rs397838876,rs557103556
dbSNP Clinvar
95237024 2956.9 CTCA C PASS 1/1 105 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%
View 15ac02302_s1 genome 9 . 95237025 0.0 T . LowGQX . 40 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%
View 15ac02302_s1 genome 9 . 95237027 0.0 A . LowGQX . 40 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%

ASTN2

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 15ac02302_s1 genome 9 rs7848630
dbSNP Clinvar
120053776 3905.08 T C PASS 1/1 135 SYNONYMOUS_CODING LOW None 0.96466 0.96470 0.03360 None None None None None None ASTN2|0.952118309|2.19%
View 15ac02302_s1 genome 9 rs3761845
dbSNP Clinvar
119770480 2643.98 C T PASS 0/1 256 SYNONYMOUS_CODING LOW None 0.48982 0.48980 0.43357 None None None None None None ASTN2|0.952118309|2.19%
View 15ac02302_s1 genome 9 rs10983304
dbSNP Clinvar
119448979 583.83 C T PASS 0/1 50 None None None 0.01198 0.01198 0.64 0.00 None None None None None None ASTN2|0.952118309|2.19%
View 15ac02302_s1 genome 9 rs72765708
dbSNP Clinvar
119491277 1822.53 C T PASS 0/1 155 NON_SYNONYMOUS_CODING MODERATE None 0.04173 0.04173 0.09454 0.12 0.00 None None None None None None ASTN2|0.952118309|2.19%
View 15ac02302_s1 genome 9 rs7863560
dbSNP Clinvar
119495697 6799.45 T C PASS 1/1 257 SYNONYMOUS_CODING LOW None 0.99241 0.99240 0.00484 None None None None None None ASTN2|0.952118309|2.19%
View 15ac02302_s1 genome 9 . 120177082 4.97 C A LowGQX;LowQD;SB 0/1 4 SYNONYMOUS_CODING LOW None None None None None None None ASTN2|0.952118309|2.19%

BAAT

Omim - GeneCards - NCBI
Options Individual Chr
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02302_s1 genome 9 rs41281027
dbSNP Clinvar
104130469 1791.54 C G PASS 0/1 125 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%
View 15ac02302_s1 genome 9 rs1572983
dbSNP Clinvar
104133628 216.22 C T SB 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.56290 0.56290 0.36860 0.44 0.02 None None None None None None BAAT|0.006993319|83.49%

BAG1

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 15ac02302_s1 genome 9 rs1071545
dbSNP Clinvar
33264540 7.08 C G LowGQ;LowGQX;SB 1/1 1 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%

BARHL1

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 15ac02302_s1 genome 9 . 135458430 9.8 G T LowGQ;LowGQX;SB 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.33 0.00 None None None None None None BARHL1|0.344501185|24.55%

BSPRY

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 15ac02302_s1 genome 9 . 116124658 9.8 C A LowGQ;LowGQX;SB 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.03 None None None None None None BSPRY|0.077695402|55.74%

C5

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 15ac02302_s1 genome 9 rs25681
dbSNP Clinvar
123780005 1066.36 G A PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.40575 0.40580 0.32454 None None None None None None C5|0.070590656|57.35%
View 15ac02302_s1 genome 9 rs17611
dbSNP Clinvar
123769200 1373.22 C T PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.40475 0.40480 0.32485 0.20 0.12 None None None None None None C5|0.070590656|57.35%

C8G

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02302_s1 genome 9 rs7850844
dbSNP Clinvar
139840543 9.8 A G LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.96725 0.96730 0.04834 1.00 0.00 None None None None None None C8G|0.005774139|84.88%

C9orf114

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02302_s1 genome 9 . 131586028 9.8 C A LowGQ;LowGQX;SB 1/1 2 STOP_GAINED+SPLICE_SITE_REGION HIGH None None None None None None None C9orf114|0.115068599|48.31%