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VARIANT EFFECT FUNCTIONAL CLASS IMPACT
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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

ACTN2, AGRN, ALPL, ARID1A, ASPM, BCL10, CACNA1S, CAMTA1, CEP104, CFHR5, CHRNB2, DARS2, ECE1, EPHA2, ERMAP, F13B, F5, FCGR3A, FCGR3B, GPSM2, GRHL3, HMCN1, HPCA, IBA57, IRF6, KDM1A, KIF1B, NLRP3, NPHP4, PER3, PLEKHG5, POGZ, POMGNT1, PRCC, PRPF3, PTPN14, RYR2, SELE, SPTA1, SZT2, TARDBP, YARS, ZMPSTE24, ZNF644,
ACTN2 Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 (3)
Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 (3)
AGRN Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)
ALPL Hypophosphatasia, adult, 146300 (3)
Hypophosphatasia, childhood, 241510 (3)
Hypophosphatasia, infantile, 241500 (3)
Odontohypophosphatasia, 146300 (3)
ARID1A Coffin-Siris syndrome 2, 614607 (3)
ASPM Microcephaly 5, primary, autosomal recessive, 608716 (3)
BCL10 ?Immunodeficiency 37, 616098 (3)
Lymphoma, MALT, somatic, 137245 (3)
{Lymphoma, follicular, somatic}, 605027 (3)
{Male germ cell tumor, somatic}, 273300, (3)
{Mesothelioma, somatic}, 156240 (3)
{Sezary syndrome, somatic}, (3)
CACNA1S Hypokalemic periodic paralysis, type 1, 170400 (3)
{Malignant hyperthermia susceptibility 5}, 601887 (3)
{Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3)
CAMTA1 Cerebellar ataxia, nonprogressive, with mental retardation, 614756 (3)
CEP104 Joubert syndrome 25, 616781 (3)
CFHR5 Nephropathy due to CFHR5 deficiency, 614809 (3)
CHRNB2 Epilepsy, nocturnal frontal lobe, 3, 605375 (3)
DARS2 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3)
ECE1 Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 (3)
{Hypertension, essential, susceptibility to}, 145500 (3)
EPHA2 Cataract 6, multiple types, 116600 (3)
ERMAP [Blood group, Radin], 111620 (3)
[Blood group, Scianna system], 111750 (3)
F13B Factor XIIIB deficiency, 613235 (3)
F5 Factor V deficiency, 227400 (3)
Thrombophilia due to activated protein C resistance, 188055 (3)
{Budd-Chiari syndrome}, 600880 (3)
{Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3)
{Stroke, ischemic, susceptibility to}, 601367 (3)
{Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3)
FCGR3A Immunodeficiency 20, 615707 (3)
FCGR3B Neutropenia, alloimmune neonatal (3)
GPSM2 Chudley-McCullough syndrome, 604213 (3)
GRHL3 Van der Woude syndrome 2, 606713 (3)
HMCN1 {Macular degeneration, age-related, 1}, 603075 (3)
HPCA Dystonia 2, torsion, autosomal recessive, 224500 (3)
IBA57 ?Multiple mitochondrial dysfunctions syndrome 3, 615330 (3)
?Spastic paraplegia 74, autosomal recessive, 616451 (3)
IRF6 Popliteal pterygium syndrome 1, 119500 (3)
van der Woude syndrome, 119300 (3)
{Orofacial cleft 6}, 608864 (3)
KDM1A Cleft palate, psychomotor retardation, and distinctive facial features, 616728 (3)
KIF1B ?Charcot-Marie-Tooth disease, type 2A1, 118210 (3)
Pheochromocytoma, 171300 (3)
{Neuroblastoma, susceptibility to, 1}, 256700 (3)
NLRP3 CINCA syndrome, 607115 (3)
Familial cold-induced inflammatory syndrome 1, 120100 (3)
Muckle-Wells syndrome, 191900 (3)
NPHP4 Nephronophthisis 4, 606966 (3)
Senior-Loken syndrome 4, 606996 (3)
PER3 ?Advanced sleep phase syndrome, familial, 3, 616882 (3)
PLEKHG5 Charcot-Marie-Tooth disease, recessive intermediate C, 615376 (3)
Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 (3)
POGZ White-Sutton syndrome, 616364 (3)
POMGNT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3)
Retinitis pigmentosa 76, 617123 (3)
PRCC Renal cell carcinoma, papillary, 605074 (3)
PRPF3 Retinitis pigmentosa 18, 601414 (3)
PTPN14 Choanal atresia and lymphedema, 613611 (3)
RYR2 Arrhythmogenic right ventricular dysplasia 2, 600996 (3)
Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3)
SELE [Blood pressure regulation QTL], 145500 (2)
SPTA1 Elliptocytosis-2, 130600 (3)
Pyropoikilocytosis, 266140 (3)
Spherocytosis, type 3, 270970 (3)
SZT2 Epileptic encephalopathy, early infantile, 18, 615476 (3)
TARDBP Amyotrophic lateral sclerosis 10, with or without FTD, 612069 (3)
Frontotemporal lobar degeneration, TARDBP-related, 612069 (3)
YARS Charcot-Marie-Tooth disease, dominant intermediate C, 608323 (3)
ZMPSTE24 Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3)
Restrictive dermopathy, lethal, 275210 (3)
ZNF644 Myopia 21, autosomal dominant, 614167 (3)

Genes at Clinical Genomics Database

ACTN2, AGRN, ALPL, ARID1A, ASPM, BCL10, CACNA1S, CAMTA1, CHRNB2, DARS2, ECE1, EPHA2, ERMAP, F13B, F5, FCGR3A, GPSM2, GRHL3, HMCN1, HPCA, IBA57, IRF6, KDM1A, KIF1B, NLRP3, NPHP4, PER3, PLEKHG5, POGZ, POMGNT1, PRPF3, PTPN14, RYR2, SLC41A1, SPTA1, SZT2, TARDBP, YARS, ZMPSTE24, ZNF644,
ACTN2 Cardiomyopathy, hypertrophic 23, with or without left ventricular noncompaction
Cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction
AGRN Myasthenic syndrome, congenital 8
ALPL Odontohypophosphatasia
Hypophosphatasia, infantile
ARID1A Coffin-Siris syndrome 2
Mental retardation, autosomal dominant 14
ASPM Microcephaly, primary autosomal recessive, 5
BCL10 Immunodeficiency 37
CACNA1S Hypokalemic periodic paralysis, type 1
Thyrotoxic period paralysis, susceptibility 1
Malignant hyperthermia susceptibility 5
CAMTA1 Cerebellar ataxia, nonprogressive, with mental retardation
CHRNB2 Epilepsy, nocturnal frontal lobe, type 3
DARS2 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
ECE1 Hirschsprung disease, cardiac defects, and autonomic dysfunction
EPHA2 Cataract 6, multiple types
ERMAP Blood group, Radin
Blood group, Scianna system
F13B Factor XIIIB deficiency
F5 Factor V deficiency
Thrombophilia due to activated protein C resistance
FCGR3A Immunodeficiency 20
GPSM2 Deafness, autosomal recessive 82
Chudley-McCullough syndrome
GRHL3 van der Woude syndrome 2
HMCN1 Macular degeneration, age-related, 1
HPCA Dystonia 2, torsion, autosomal recessive
IBA57 Spastic paraplegia 74, autosomal recessive
Multiple mitochondrial dysfunctions syndrome 3
IRF6 Orofacial cleft 6
van der Woude syndrome 1
Popliteal pterygium syndrome
KDM1A Cleft palate, psychomotor retardation, and distinctive facial features
KIF1B Pheochromocytoma
Neuroblastoma, susceptibility to
NLRP3 Muckle-Wells syndrome
Neonatal Onset Multisystem Inflammatory Disease (NOMID)
Chronic Infantile Neurologic Cutaneous Articular (CINCA) syndrome
NPHP4 Senior-Loken syndrome 4
Nephronophthisis 4
PER3 Advanced sleep phase syndrome, familial, 3
PLEKHG5 Spinal muscular atrophy, distal, autosomal recessive, 4
Charcot-Marie-Tooth disease C, recessive intermediate
POGZ Mental retardation, autosomal dominant 37 (White-Sutton syndrome)
POMGNT1 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
PRPF3 Retinitis pigmentosa 18
PTPN14 Choanal atresia and lymphedema
RYR2 Arrhythmogenic right ventricular dysplasia 2
Ventricular tachycardia, catecholaminergic polymorphic, 1
SLC41A1 Nephronophthisis-like ciliopathy
SPTA1 Ellipsocytosis 2
Pyropoikilocytosis , hereditary
Spherocytosis, type 3
SZT2 Epileptic encephalopathy, early infantile, 18
TARDBP Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia
YARS Charcot-Marie-Tooth disease, dominant intermediate C
ZMPSTE24 Restrictive dermopathy, lethal
Mandibuloacral dysplasia with type B lipodystrophy
ZNF644 Myopia 21, autosomal dominant

Genes at HGMD

Summary

Number of Variants: 11663
Number of Genes: 182

Export to: CSV

A3GALT2

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 23 recalibrated filtered postcgp gqfiltered 1 . 33772682 47273.56 T C PASS 0/1 75 SYNONYMOUS_CODING LOW SILENT -0.29 None None None None None None None

AADACL4

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 23 recalibrated filtered postcgp gqfiltered 1 . 12726103 4068.3 G A PASS 0/1 5 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.67 None None None None None None None

ACOT11

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 23 recalibrated filtered postcgp gqfiltered 1 . 55096452 44429.04 G T PASS 1/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.67 None None None None None None None

ACTN2

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 23 recalibrated filtered postcgp gqfiltered 1 . 236897756 32931.25 A C PASS 1/1 11 None None None 0.00 1.00 None None None None None None None

ADAM15

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 23 recalibrated filtered postcgp gqfiltered 1 . 155034817 31846.75 C T PASS 0/1 10 STOP_GAINED HIGH NONSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 155034826 29629.85 C A PASS 0/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 155029453 46202.71 T C PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05 0.25 None None None None None None None

ADIPOR1

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 23 recalibrated filtered postcgp gqfiltered 1 . 202920083 14.68 G A PASS 0/1 7 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18 0.01 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 202920079 16125.15 T C PASS 1/1 7 SYNONYMOUS_CODING LOW None None None None None None None

AGRN

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 23 recalibrated filtered postcgp gqfiltered 1 . 978953 2556.26 C G PASS 1/1 77 SYNONYMOUS_CODING LOW -0.89 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 976215 1993.63 A G PASS 1/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.01 2.80 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 976669 650.77 T C PASS 1/1 24 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13 0.99 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 978812 2145.18 G C PASS 1/1 31 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 981935 492.78 G A PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.64 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 979496 7139.58 T C PASS 1/1 154 SYNONYMOUS_CODING LOW -1.06 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 979560 4663.37 T C PASS 1/1 161 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 981169 1394.39 A G PASS 1/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.69 None None None None None None None

AKR1A1

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 23 recalibrated filtered postcgp gqfiltered 1 . 46035598 3562.57 C T PASS 0/1 159 SYNONYMOUS_CODING LOW None None None None None None None

ALPL

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 23 recalibrated filtered postcgp gqfiltered 1 . 21887634 81382.27 A G PASS 0/1 86 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 -0.84 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 21890615 263454.89 G A PASS 1/1 68 SYNONYMOUS_CODING LOW None None None None None None None

ANKRD65

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 23 recalibrated filtered postcgp gqfiltered 1 . 1355779 91.05 GA G PASS 1/1 2 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 1354531 42271.69 G A PASS 1/1 56 SYNONYMOUS_CODING LOW None None None None None None None

APOA1BP

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 23 recalibrated filtered postcgp gqfiltered 1 . 156561682 12871.7 A G PASS 1/1 11 SYNONYMOUS_CODING LOW None None None None None None None

ARHGEF11

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 23 recalibrated filtered postcgp gqfiltered 1 . 156913754 30560.66 A G PASS 1/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.07 -1.10 None None None None None None None

ARHGEF16

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 23 recalibrated filtered postcgp gqfiltered 1 . 3396399 1685.06 C T PASS 0/1 79 STOP_GAINED HIGH NONSENSE None None None None None None None

ARID1A

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 23 recalibrated filtered postcgp gqfiltered 1 . 27100305 61988.17 T C PASS 1/1 72 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ASPM

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 23 recalibrated filtered postcgp gqfiltered 1 . 197057542 39130.76 A G PASS 0/1 87 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 197061071 61237.99 T C PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05 0.94 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 197094222 5472.29 C T PASS 0/1 62 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ATAD3A

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 23 recalibrated filtered postcgp gqfiltered 1 . 1459247 489.4 G A PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.98 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 1455617 13370.2 T G PASS 0/1 113 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16 0.02 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 1454315 8671.07 C T PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

ATAD3C

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 23 recalibrated filtered postcgp gqfiltered 1 . 1387763 20771.28 CCT C PASS 1/1 15 FRAME_SHIFT HIGH None None None None None None None

ATP2B4

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 23 recalibrated filtered postcgp gqfiltered 1 . 203683316 256812.63 A G PASS 1/1 66 SYNONYMOUS_CODING LOW None None None None None None None

ATP8B2

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 23 recalibrated filtered postcgp gqfiltered 1 . 154321356 52.69 CCT C PASS 0/1 7 FRAME_SHIFT HIGH None None None None None None None

BCL10

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 23 recalibrated filtered postcgp gqfiltered 1 . 85736419 987.59 C A PASS 0/1 66 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 85736333 3063.09 C T PASS 1/1 81 SYNONYMOUS_CODING LOW None None None None None None None

BGLAP

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 23 recalibrated filtered postcgp gqfiltered 1 . 156212919 18893.34 T C PASS 0/1 7 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.70 None None None None None None None

BNIPL

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 23 recalibrated filtered postcgp gqfiltered 1 . 151018349 341253.05 A G PASS 1/1 8 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

C1orf167

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 23 recalibrated filtered postcgp gqfiltered 1 . 11839978 26416.05 G A PASS 1/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05 0.17 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 11824498 156063.9 A G PASS 1/1 74 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.00 1.52 None None None None None None None

C1orf213

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 23 recalibrated filtered postcgp gqfiltered 1 . 23695947 4384.27 A G PASS 0/1 106 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.73 None None None None None None None

C1orf85

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 23 recalibrated filtered postcgp gqfiltered 1 . 156263352 31615.15 A G PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22 0.02 None None None None None None None

C2CD4D

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 23 recalibrated filtered postcgp gqfiltered 1 . 151811212 15665.33 A C PASS 1/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

CACNA1E

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 23 recalibrated filtered postcgp gqfiltered 1 . 181745330 7448.38 AT A,TT PASS 0/1 30 FRAME_SHIFT HIGH None None None None None None None

CACNA1S

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 23 recalibrated filtered postcgp gqfiltered 1 . 201039454 2466.88 T TG PASS 0/1 67 FRAME_SHIFT HIGH None None None None None None None

CAMK1G

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 23 recalibrated filtered postcgp gqfiltered 1 . 209783197 40672.25 C A PASS 0/1 69 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 1.15 None None None None None None None

CAMTA1

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 23 recalibrated filtered postcgp gqfiltered 1 . 7737674 12584.66 T A PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 1.00 None None None None None None None

CAPZB

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 23 recalibrated filtered postcgp gqfiltered 1 . 19683244 9976.94 G A PASS 0/1 175 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.02 0.01 None None None None None None None

CCDC19

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 23 recalibrated filtered postcgp gqfiltered 1 . 159857685 12930.58 G A PASS 1/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 159857666 20158.83 A G PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

CCNL2

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 23 recalibrated filtered postcgp gqfiltered 1 . 1322866 1349.11 A C PASS 1/1 18 SYNONYMOUS_CODING LOW SILENT None None None None None None None

CCT3

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 23 recalibrated filtered postcgp gqfiltered 1 . 156294857 32933.29 C T PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18 0.04 3.33 None None None None None None None

CDC7

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 23 recalibrated filtered postcgp gqfiltered 1 . 91981404 17685.6 T TTGTA PASS 0/1 12 FRAME_SHIFT HIGH None None None None None None None

CDCP2

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 23 recalibrated filtered postcgp gqfiltered 1 . 54610482 5846.58 G A,* PASS 0/2 50 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 54610464 2935.57 CC... C PASS 0/1 50 SPLICE_SITE_REGION LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 54607053 15097.69 T C PASS 1/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.97 None None None None None None None

CDK11A

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 23 recalibrated filtered postcgp gqfiltered 1 . 1634663 1170.88 C G PASS 0/1 25 SYNONYMOUS_CODING LOW None None None None None None None

CEP104

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 23 recalibrated filtered postcgp gqfiltered 1 . 3732839 2229.4 G A PASS 0/1 124 None None None None None None None None None None

CEP350

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 23 recalibrated filtered postcgp gqfiltered 1 . 180022941 7623.9 A G PASS 1/1 5 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 180053208 21782.23 T G PASS 1/1 51 SYNONYMOUS_CODING LOW None None None None None None None

CERS2

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 23 recalibrated filtered postcgp gqfiltered 1 . 150939931 520.63 C T PASS 0/1 49 STOP_GAINED HIGH NONSENSE None None None None None None None

CFHR5

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 23 recalibrated filtered postcgp gqfiltered 1 . 196977739 23033.92 T A PASS 0/1 71 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 196977645 62501.82 T C PASS 0/1 75 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

CHRNB2

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 23 recalibrated filtered postcgp gqfiltered 1 . 154544095 143975.94 T C PASS 1/1 161 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 rs200050755
dbSNP
154544001 58655.54 G A PASS 1/1 178 SYNONYMOUS_CODING LOW SILENT 0.13 None None None None None None None

CHTOP

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 23 recalibrated filtered postcgp gqfiltered 1 . 153615732 14809.79 G A PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.53 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 153615803 30355.79 G A PASS 0/1 57 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 153614780 20058.79 A T PASS 0/1 16 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 153614832 56547.11 C T PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

CRABP2

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 23 recalibrated filtered postcgp gqfiltered 1 . 156670711 47489.61 C T PASS 0/1 71 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 156670364 204041.1 G A PASS 1/1 120 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.79 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 156669844 29265.61 G A PASS 0/1 87 SYNONYMOUS_CODING LOW None None None None None None None

CROCC

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 23 recalibrated filtered postcgp gqfiltered 1 . 17270686 6615.53 A G PASS 0/1 9 SYNONYMOUS_CODING LOW None None None None None None None

CTNNBIP1

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 23 recalibrated filtered postcgp gqfiltered 1 . 9932068 10.08 C T PASS 0/1 8 SYNONYMOUS_CODING LOW None None None None None None None

DARS2

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 23 recalibrated filtered postcgp gqfiltered 1 . 173826665 9769.41 CT CT... PASS 0/1 5 FRAME_SHIFT HIGH None None None None None None None

DCAF6

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 23 recalibrated filtered postcgp gqfiltered 1 . 168044612 24636.84 T C PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.81 0.59 None None None None None None None

DESI2

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 23 recalibrated filtered postcgp gqfiltered 1 . 244855322 23458.84 C A PASS 0/1 96 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT None None None None None None None

DNAH14

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 23 recalibrated filtered postcgp gqfiltered 1 . 225340481 1130.03 C A PASS 0/1 66 SYNONYMOUS_CODING LOW 2.79 None None None None None None None

DRAXIN

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 23 recalibrated filtered postcgp gqfiltered 1 . 11766573 3057.3 C T PASS 1/1 84 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.45 None None None None None None None

ECE1

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 23 recalibrated filtered postcgp gqfiltered 1 . 21563291 5647.27 CG C PASS 1/1 26 FRAME_SHIFT HIGH None None None None None None None

EPHA2

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 23 recalibrated filtered postcgp gqfiltered 1 . 16451770 78799.32 G T PASS 0/1 39 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ERMAP

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 23 recalibrated filtered postcgp gqfiltered 1 . 43308766 6993.91 G A PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.28 0.01 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 43308824 8779.63 G C PASS 0/1 27 SYNONYMOUS_CODING LOW None None None None None None None

F13B

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 23 recalibrated filtered postcgp gqfiltered 1 . 197009703 38.32 GT G PASS 0/1 25 FRAME_SHIFT HIGH None None None None None None None

F5

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 23 recalibrated filtered postcgp gqfiltered 1 . 169511985 2504.31 C G PASS 1/1 73 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 169511938 3953.64 A T PASS 1/1 122 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.03 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 169511883 4870.43 T A PASS 1/1 146 SYNONYMOUS_CODING LOW SILENT None None None None None None None

FAM151A

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 23 recalibrated filtered postcgp gqfiltered 1 . 55075501 22268.93 A G PASS 1/1 60 SYNONYMOUS_CODING LOW 1.61 None None None None None None None

FAM183A

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 23 recalibrated filtered postcgp gqfiltered 1 . 43613740 27363.75 T C PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.94 None None None None None None None

FBXO42

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 23 recalibrated filtered postcgp gqfiltered 1 . 16577417 70179.55 T A VQSRTrancheSNP99.90to100.00 0/1 85 SYNONYMOUS_CODING LOW SILENT -0.42 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 16577233 199.63 A C PASS 0/1 75 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 16577241 2248.38 A C PASS 0/1 87 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 16577232 208.63 T C PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.99 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 16577242 160.63 G T PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 16577259 94.63 C T PASS 0/1 112 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 16577252 905.4 T C PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None

FCGR3A

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 23 recalibrated filtered postcgp gqfiltered 1 . 161519563 759.5 C T PASS 0/1 52 SYNONYMOUS_CODING LOW SILENT None None None None None None None

FCGR3B

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 23 recalibrated filtered postcgp gqfiltered 1 . 161600163 459.28 T C PASS 0/1 177 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 161600161 774.09 C A PASS 0/1 174 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21 0.01 None None None None None None None