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Genes:
ABHD12, ACSS2, ACTR5, ADA, ADAM33, ADRA1D, ADRM1, APCDD1L, ARFGEF2, ARFRP1, ASXL1, ATP9A, ATRN, AURKA, B4GALT5, BANF2, BCAS1, BFSP1, BIRC7, BMP2, BMP7, BPI, BPIFA3, BPIFB1, BPIFB2, BPIFB3, BPIFB4, BPIFB6, C20orf141, C20orf166, C20orf194, C20orf195, C20orf201, C20orf26, C20orf96, CABLES2, CASS4, CBFA2T2, CCM2L, CDC25B, CDH4, CDK5RAP1, CEP250, CHRNA4, CNBD2, COL20A1, COL9A3, CPNE1, CRNKL1, CSNK2A1, CSRP2BP, CST1, CST3, CST4, CST5, CST7, CST8, CST9, CTCFL, CTSZ, CYP24A1, DBNDD2, DDX27, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DHX35, DIDO1, DNMT3B, DTD1, DUSP15, DZANK1, EBF4, EEF1A2, ELMO2, ENTPD6, EPPIN, ERGIC3, ESF1, FAM110A, FAM209A, FAM209B, FAM210B, FAM65C, FAM83C, FAM83D, FERMT1, FITM2, FLRT3, FOXA2, GATA5, GCNT7, GFRA4, GINS1, GMEB2, GNAS, HELZ2, HNF4A, HRH3, HSPA12B, IFT52, ITPA, JAG1, JPH2, KCNG1, KCNK15, KIAA1755, KIF16B, LAMA5, LBP, LIME1, LRRN4, LZTS3, MACROD2, MAPRE1, MATN4, MAVS, MCM8, MGME1, MMP9, MROH8, MYBL2, MYH7B, NAPB, NCOA3, NCOA6, NECAB3, NFATC2, NINL, NKAIN4, NOP56, NPBWR2, NPEPL1, OPRL1, PAK7, PCK1, PCSK2, PDYN, PHF20, PIGT, PLCB1, PLCB4, PMEPA1, POFUT1, POLR3F, PPP1R16B, PREX1, PRND, PRNP, PROCR, PROKR2, PSMA7, PSMF1, PTGIS, PTPRA, PXMP4, PYGB, RAD21L1, RALGAPA2, RALGAPB, RALY, RBBP8NL, RIN2, RPN2, RPS21, RRBP1, RTEL1, RTFDC1, SALL4, SCP2D1, SCRT2, SDCBP2, SEC23B, SEL1L2, SGK2, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SLA2, SLC12A5, SLC13A3, SLC17A9, SLC23A2, SLC24A3, SLC2A4RG, SLC4A11, SLC52A3, SLC9A8, SLX4IP, SMOX, SNTA1, SNX5, SOGA1, SPATA2, SPINT3, SPTLC3, SRC, SRMS, SRSF6, SSTR4, STK35, TAF4, TCF15, TFAP2C, TGM3, TGM6, TLDC2, TMC2, TNFRSF6B, TNNC2, TOX2, TP53TG5, TPX2, TRIB3, TRMT6, TRPC4AP, TTI1, TTLL9, TUBB1, UQCC1, WFDC3, WFDC8, YTHDF1, ZBP1, ZBTB46, ZFP64, ZGPAT, ZMYND8, ZNF133, ZNF335, ZNF341, ZNF512B, ZNFX1, ZSWIM3,

Genes at Omim

ABHD12, ADA, ARFGEF2, ASXL1, AURKA, BFSP1, BMP2, CHRNA4, COL9A3, CSNK2A1, CST3, CYP24A1, DNMT3B, EEF1A2, ELMO2, FERMT1, FLRT3, GATA5, GINS1, GNAS, HNF4A, IFT52, ITPA, JAG1, JPH2, MCM8, MGME1, MMP9, NOP56, PCK1, PDYN, PIGT, PLCB1, PLCB4, POFUT1, PRNP, PROKR2, PTGIS, RIN2, RTEL1, SALL4, SEC23B, SLC12A5, SLC17A9, SLC4A11, SLC52A3, SNTA1, SRC, TGM3, TGM6, TUBB1, ZNF335, ZNF341,
ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3)
ADA Adenosine deaminase deficiency, partial, 102700 (3)
Severe combined immunodeficiency due to ADA deficiency, 102700 (3)
ARFGEF2 Periventricular heterotopia with microcephaly, 608097 (3)
ASXL1 Bohring-Opitz syndrome, 605039 (3)
Myelodysplastic syndrome, somatic, 614286 (3)
AURKA {Colon cancer, susceptibility to}, 114500 (3)
BFSP1 Cataract 33, multiple types, 611391 (3)
BMP2 {HFE hemochromatosis, modifier of}, 235200 (3)
Brachydactyly, type A2, 112600 (3)
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877 (3)
CHRNA4 {Nicotine addiction, susceptibility to}, 188890 (3)
Epilepsy, nocturnal frontal lobe, 1, 600513 (3)
COL9A3 {Intervertebral disc disease, susceptibility to}, 603932 (3)
Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 (3)
CSNK2A1 Okur-Chung neurodevelopmental syndrome, 617062 (3)
CST3 Cerebral amyloid angiopathy, 105150 (3)
{Macular degeneration, age-related, 11}, 611953 (3)
CYP24A1 Hypercalcemia, infantile, 1, 143880 (3)
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
EEF1A2 Epileptic encephalopathy, early infantile, 33, 616409 (3)
Mental retardation, autosomal dominant 38, 616393 (3)
ELMO2 Vascular malformation, primary intraosseous, 606893 (3)
FERMT1 Kindler syndrome, 173650 (3)
FLRT3 Hypogonadotropic hypogonadism 21 with anosmia, 615271 (3)
GATA5 Congenital heart defects, multiple types, 5, 617912 (3)
GINS1 Immunodeficiency 55, 617827 (3)
GNAS ACTH-independent macronodular adrenal hyperplasia, 219080 (3)
McCune-Albright syndrome, somatic, mosaic 174800 (3)
Osseous heteroplasia, progressive, 166350 (3)
Pituitary adenoma 3, multiple types, somatic, 617686 (3)
Pseudohypoparathyroidism Ia, 103580 (3)
Pseudohypoparathyroidism Ib, 603233 (3)
Pseudohypoparathyroidism Ic, 612462 (3)
Pseudopseudohypoparathyroidism, 612463 (3)
HNF4A Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 (3)
MODY, type I, 125850 (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
IFT52 Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3)
ITPA Epileptic encephalopathy, early infantile, 35, 616647 (3)
[Inosine triphosphatase deficiency], 613850 (3)
JAG1 Alagille syndrome 1, 118450 (3)
?Deafness, congenital heart defects, and posterior embryotoxon, 617992 (3)
Tetralogy of Fallot, 187500 (3)
JPH2 Cardiomyopathy, hypertrophic, 17, 613873 (3)
MCM8 ?Premature ovarian failure 10, 612885 (3)
MGME1 Mitochondrial DNA depletion syndrome 11, 615084 (3)
MMP9 Metaphyseal anadysplasia 2, 613073 (3)
NOP56 Spinocerebellar ataxia 36, 614153 (3)
PCK1 ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3)
PDYN Spinocerebellar ataxia 23, 610245 (3)
PIGT Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 (3)
?Paroxysmal nocturnal hemoglobinuria 2, 615399 (3)
PLCB1 Epileptic encephalopathy, early infantile, 12, 613722 (3)
PLCB4 Auriculocondylar syndrome 2, 614669 (3)
POFUT1 Dowling-Degos disease 2, 615327 (3)
PRNP Gerstmann-Straussler disease, 137440 (3)
{Kuru, susceptibility to}, 245300 (3)
Cerebral amyloid angiopathy, PRNP-related, 137440 (3)
Huntington disease-like 1, 603218 (3)
Creutzfeldt-Jakob disease, 123400 (3)
Insomnia, fatal familial, 600072 (3)
Prion disease with protracted course, 606688 (3)
PROKR2 Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 (3)
PTGIS Hypertension, essential, 145500 (3)
RIN2 Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)
RTEL1 Dyskeratosis congenita, autosomal dominant 4, 615190 (3)
Dyskeratosis congenita, autosomal recessive 5, 615190 (3)
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 (3)
SALL4 IVIC syndrome, 147750 (3)
Duane-radial ray syndrome, 607323 (3)
SEC23B Dyserythropoietic anemia, congenital, type II, 224100 (3)
?Cowden syndrome 7, 616858 (3)
SLC12A5 Epileptic encephalopathy, early infantile, 34, 616645 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685 (3)
SLC17A9 Porokeratosis 8, disseminated superficial actinic type, 616063 (3)
SLC4A11 Corneal dystrophy, Fuchs endothelial, 4, 613268 (3)
Corneal endothelial dystrophy and perceptive deafness, 217400 (3)
Corneal endothelial dystrophy, autosomal recessive, 217700 (3)
SLC52A3 Brown-Vialetto-Van Laere syndrome 1, 211530 (3)
?Fazio-Londe disease, 211500 (3)
SNTA1 Long QT syndrome 12, 612955 (3)
SRC Colon cancer, advanced, somatic, 114500 (3)
?Thrombocytopenia 6, 616937 (3)
TGM3 ?Uncombable hair syndrome 2, 617251 (3)
TGM6 Spinocerebellar ataxia 35, 613908 (3)
TUBB1 Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 (3)
ZNF335 Microcephaly 10, primary, autosomal recessive, 615095 (3)
ZNF341 Hyper-IgE recurrent infection syndrome 3, autosomal recessive, 618282 (3)

Genes at Clinical Genomics Database

ABHD12, ADA, ARFGEF2, ASXL1, BFSP1, BMP2, CHRNA4, COL9A3, CST3, CYP24A1, DNMT3B, EEF1A2, FERMT1, FLRT3, GNAS, HNF4A, ITPA, JAG1, JPH2, MCM8, MGME1, MMP9, NOP56, PDYN, PIGT, PLCB1, PLCB4, POFUT1, PRNP, PROKR2, RIN2, RTEL1, SALL4, SEC23B, SLC12A5, SLC17A9, SLC4A11, SLC52A3, SNTA1, SRC, TGM6, TUBB1, ZNF335,
ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
ADA Severe combined immunodeficiency due to adenosine deaminase deficiency
ARFGEF2 Heterotopia, periventricular, autosomal recessive
ASXL1 Bohring-Opitz syndrome
BFSP1 Cataract, cortical, juvenile-onset
BMP2 Brachydactyly, type A2
CHRNA4 Epilepsy, nocturnal frontal lobe, type 1
COL9A3 Epiphyseal dysplasia, multiple, 3
CST3 Cerebral amyloid angiopathy
CYP24A1 1,25(OH)(2)D-24-hydroxylase deficiency
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1
EEF1A2 Epileptic encephalopathy, early infantile, 33
Mental retardation, autosomal dominant 28
FERMT1 Kindler syndrome
FLRT3 Hypogonadotropic hypogonadism 21, with or without anosmia
GNAS Pseudohypoparathyroidism, type IA
Pseudohypoparathyroidism, type IB
Pseudohypoparathyroidism, type IC
Progressive osseous heteroplasia
McCune-Albright syndrome
HNF4A Congenital hyperinsulinism, diazoxide-responsive
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
Maturity onset diabetes of the young, 1
ITPA Inosine triphosphatase deficiency
JAG1 Alagille syndrome
JPH2 Cardiomyopathy, familial hypertrophic 17
MCM8 Premature ovarian failure 10
MGME1 Mitochondrial DNA depletion syndrome 11
MMP9 Metaphyseal anadysplasia 2
NOP56 Spinocerebellar ataxia 36
PDYN Spinocerebellar ataxia 23
PIGT Multiple congenital anomalies-hypotonia-seizures syndrome 3
PLCB1 Epileptic encephalopathy, early infantile, 12
PLCB4 Auriculocondylar syndrome 2
POFUT1 Dowling-Degos disease 2
PRNP Spongiform encephalopathy with neuropsychiatric features
Huntington disease-like 1
Gerstmann-Straussler disease
Creutzfeldt-Jakob disease
Insomnia, fatal familial
Dementia, Lewy body
PROKR2 Hypogonadotropic hypogonadism 3 with or without anosmia
RIN2 Macrocephaly, alopecia, cutis laxa, and scoliosis
RTEL1 Pulmonary fibrosis and/or bone marrow failure, telomere-related 3
Dyskeratosis congenita, autosomal dominant 4
Dyskeratosis congenita, autosomal recessive 5
SALL4 Duane-radial ray/Okohiro syndrome
Acro-Renal-Ocular syndrome
SEC23B Cowden syndrome 7
Anemia, dyserythropoietic congenital, type II
SLC12A5 Epileptic encephalopathy, early infantile, 34
SLC17A9 Porokeratosis, disseminated superficial actinic, 8
SLC4A11 Cryohydrocytosis
SLC52A3 Brown-Vialetto-Van Laere syndrome 1
Fazio-Londe disease
SNTA1 Long QT syndrome 12
SRC Thrombocytopenia, autosomal dominant, 6
TGM6 Spinocerebellar ataxia 35
TUBB1 Macrothrombocytopenia, autosomal dominant, TUBB1-related
ZNF335 Microcephaly 10, primary, autosomal recessive

Genes at HGMD

Summary

Number of Variants: 908
Number of Genes: 239

Export to: CSV

ABHD12

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 045_tsvc_variants 20 rs6107027
dbSNP Clinvar
25288632 2539.05 G A PASS 1/1 271 SYNONYMOUS_CODING LOW None 0.33606 0.33610 0.43465 None None None None None None ABHD12|0.092039068|52.8%

ACSS2

Omim - GeneCards - NCBI
Options Individual Chr
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Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 045_tsvc_variants 20 rs4911163
dbSNP Clinvar
33470694 1167.73 C T PASS 1/1 122 SYNONYMOUS_CODING LOW None 0.51218 0.51220 0.43434 None None None None None None ACSS2|0.488270454|16.4%

ACTR5

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 045_tsvc_variants 20 rs2245231
dbSNP Clinvar
37396120 181.19 A G PASS 0/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.43331 0.43330 0.44157 0.40 0.00 None None None None None None ACTR5|0.119979077|47.44%

ADA

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 045_tsvc_variants 20 rs394105
dbSNP Clinvar
43264927 689.89 C T PASS 1/1 73 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.98223 0.98220 0.01538 None None None None None None ADA|0.574821556|12.82%

ADAM33

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 045_tsvc_variants 20 rs528557
dbSNP Clinvar
3651742 471.54 C G PASS 0/1 178 SYNONYMOUS_CODING LOW None 0.38778 0.38780 0.38944 None None None None None None ADAM33|0.021575059|73.4%
View 045_tsvc_variants 20 rs3918396
dbSNP Clinvar
3651765 492.06 C T PASS 0/1 193 NON_SYNONYMOUS_CODING MODERATE None 0.04812 0.04812 0.06517 0.75 0.01 None None None None None None ADAM33|0.021575059|73.4%

ADRA1D

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 045_tsvc_variants 20 rs35105284
dbSNP Clinvar
4228735 229.34 C T PASS 0/1 85 SYNONYMOUS_CODING LOW None 0.20487 0.20490 0.22072 None None None None None None ADRA1D|0.152836614|42.55%

ADRM1

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 045_tsvc_variants 20 rs2427273
dbSNP Clinvar
60881330 1890.97 G A PASS 1/1 197 SYNONYMOUS_CODING LOW None 0.81789 0.81790 0.16377 None None None None None None ADRM1|0.222122669|34.19%
View 045_tsvc_variants 20 rs2427275
dbSNP Clinvar
60881780 743.43 T C PASS 1/1 81 SYNONYMOUS_CODING LOW None 0.96286 0.96290 0.03147 None None None None None None ADRM1|0.222122669|34.19%

APCDD1L

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 045_tsvc_variants 20 rs1980576
dbSNP Clinvar
57045667 1343.73 T C PASS 1/1 139 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.45986 0.45990 0.43048 None None None None None None APCDD1L|0.016982669|75.86%
View 045_tsvc_variants 20 rs3946003
dbSNP Clinvar
57045765 1447.2 A G PASS 1/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.46086 0.46090 0.40602 1.00 0.00 None None None None None None APCDD1L|0.016982669|75.86%

ARFGEF2

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 045_tsvc_variants 20 rs2281582
dbSNP Clinvar
47630449 354.58 C T PASS 0/1 199 SYNONYMOUS_CODING LOW None 0.20847 0.20850 0.11303 None None None None None None ARFGEF2|0.303924468|27.35%

ARFRP1

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 045_tsvc_variants 20 rs1048665
dbSNP Clinvar
62331989 657.17 T G PASS 1/1 74 SYNONYMOUS_CODING LOW None 0.26478 0.26480 0.17546 None None None None None None ARFRP1|0.101604996|50.84%

ASXL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 045_tsvc_variants 20 rs6058694
dbSNP Clinvar
31022959 1917.22 T C PASS 1/1 196 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00008 0.27 0.00 None None None None None None ASXL1|0.399812505|20.78%
View 045_tsvc_variants 20 rs4911231
dbSNP Clinvar
31024274 112.24 T C PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.40575 0.40580 0.32008 None None None None None None ASXL1|0.399812505|20.78%

ATP9A

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 045_tsvc_variants 20 rs2255342
dbSNP Clinvar
50287790 1720.49 A G PASS 1/1 183 SYNONYMOUS_CODING LOW None 0.70407 0.70410 0.26749 None None None None None None ATP9A|0.17091233|40.18%
View 045_tsvc_variants 20 rs2255341
dbSNP Clinvar
50287736 1702.8 C T PASS 1/1 170 SYNONYMOUS_CODING LOW None 0.53295 0.53290 0.46555 None None None None None None ATP9A|0.17091233|40.18%

ATRN

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 045_tsvc_variants 20 rs2246808
dbSNP Clinvar
3624830 194.36 G A PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.38259 0.38260 0.44987 None None None None None None ATRN|0.348885303|24.22%
View 045_tsvc_variants 20 rs235540
dbSNP Clinvar
3564672 1450.05 C T PASS 1/1 153 SYNONYMOUS_CODING LOW None 0.82448 0.82450 0.26895 None None None None None None ATRN|0.348885303|24.22%

AURKA

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 045_tsvc_variants 20 rs2273535
dbSNP Clinvar
54961541 185.6 A T PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.30970 0.30970 0.18822 0.43 0.00 None None None None None None AURKA|0.191109207|37.7%
View 045_tsvc_variants 20 rs1047972
dbSNP Clinvar
54961463 447.31 T C PASS 1/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.84984 0.84980 0.16223 1.00 0.00 None None None None None None AURKA|0.191109207|37.7%

B4GALT5

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 045_tsvc_variants 20 rs2235855
dbSNP Clinvar
48259034 177.95 A G PASS 0/1 55 SYNONYMOUS_CODING LOW None 0.44669 0.44670 0.47709 None None None None None None B4GALT5|0.192081933|37.58%
View 045_tsvc_variants 20 rs421801
dbSNP Clinvar
48257149 1624.62 C T PASS 1/1 173 SYNONYMOUS_CODING LOW None 0.81010 0.81010 0.18976 None None None None None None B4GALT5|0.192081933|37.58%

BANF2

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 045_tsvc_variants 20 rs4814640
dbSNP Clinvar
17705677 231.49 A G PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.94329 0.94330 0.06459 0.20 0.00 None None None None None None BANF2|0.055467464|61.07%
View 045_tsvc_variants 20 rs1053993
dbSNP Clinvar
17716416 372.46 C G PASS 0/1 187 NON_SYNONYMOUS_CODING MODERATE None 0.39237 0.39240 0.34853 0.40 0.00 None None None None None None BANF2|0.055467464|61.07%

BCAS1

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 045_tsvc_variants 20 rs394732
dbSNP Clinvar
52675188 222.78 G T PASS 0/1 99 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.57608 0.57610 0.46033 1.00 0.00 None None None None None None BCAS1|0.015654771|76.67%

BFSP1

Omim - GeneCards - NCBI
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 045_tsvc_variants 20 rs6080719
dbSNP Clinvar
17477592 166.7 C T PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.26737 0.26740 0.16797 0.85 0.00 None None None None None None BFSP1|0.019258664|74.54%
View 045_tsvc_variants 20 rs6080718
dbSNP Clinvar
17474968 2303.46 T C PASS 1/1 243 SYNONYMOUS_CODING LOW None 0.00300 0.00300 0.25988 None None None None None None BFSP1|0.019258664|74.54%
View 045_tsvc_variants 20 rs6136118
dbSNP Clinvar
17475217 278.0 C T PASS 0/1 148 SYNONYMOUS_CODING LOW None 0.33946 0.33950 0.26803 None None None None None None BFSP1|0.019258664|74.54%

BIRC7

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 045_tsvc_variants 20 rs2273487
dbSNP Clinvar
61869826 443.75 C T PASS 0/1 223 SYNONYMOUS_CODING LOW None 0.44489 0.44490 0.43433 None None None None None None BIRC7|0.003576281|87.65%

BMP2

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 045_tsvc_variants 20 rs235768
dbSNP Clinvar
6759115 923.67 A T PASS 1/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.76677 0.76680 0.27069 0.00 0.87 None None None None None None BMP2|0.997316737|0.64%
View 045_tsvc_variants 20 rs1049007
dbSNP Clinvar
6751034 614.49 A G PASS 1/1 64 SYNONYMOUS_CODING LOW None 0.74601 0.74600 0.29174 None None None None None None BMP2|0.997316737|0.64%
View 045_tsvc_variants 20 rs2273073
dbSNP Clinvar
6750882 201.3 T G PASS 0/1 143 NON_SYNONYMOUS_CODING MODERATE None 0.02975 0.02975 0.01217 0.72 0.00 None None None None None None BMP2|0.997316737|0.64%

BMP7

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 045_tsvc_variants 20 rs2148328
dbSNP Clinvar
55748206 1468.89 G A PASS 1/1 158 None None None 0.40755 0.40750 0.41764 0.39 0.00 None None None None None None BMP7|0.992789544|0.96%

BPI

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 045_tsvc_variants 20 rs5741804
dbSNP Clinvar
36952342 299.95 C T PASS 0/1 155 NON_SYNONYMOUS_CODING MODERATE None 0.14677 0.14680 0.09895 0.08 0.00 None None None None None None BPI|0.001345673|93.63%
View 045_tsvc_variants 20 rs4358188
dbSNP Clinvar
36946848 344.77 G A PASS 0/1 196 NON_SYNONYMOUS_CODING MODERATE None 0.43510 0.43510 0.49531 1.00 0.00 None None None None None None BPI|0.001345673|93.63%

BPIFA3

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 045_tsvc_variants 20 rs3818222
dbSNP Clinvar
31812923 250.28 G A PASS 0/1 148 NON_SYNONYMOUS_CODING MODERATE None 0.66434 0.66430 0.41673 1.00 0.00 None None None None None None BPIFA3|0.004260948|86.67%

BPIFB1

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 045_tsvc_variants 20 rs1078761
dbSNP Clinvar
31876681 477.96 A G PASS 0/1 194 NON_SYNONYMOUS_CODING MODERATE None 0.33007 0.33010 0.34154 0.09 0.06 None None None None None None BPIFB1|0.002984777|88.67%
View 045_tsvc_variants 20 rs1999663
dbSNP Clinvar
31897554 1735.27 G C PASS 1/1 179 NON_SYNONYMOUS_CODING MODERATE None 0.67532 0.67530 0.43219 0.61 0.00 None None None None None None BPIFB1|0.002984777|88.67%

BPIFB2

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 045_tsvc_variants 20 rs17124003
dbSNP Clinvar
31609581 428.05 C T PASS 0/1 185 SYNONYMOUS_CODING LOW None 0.32029 0.32030 0.33777 None None None None None None BPIFB2|0.006724294|83.8%

BPIFB3

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 045_tsvc_variants 20 rs4911290
dbSNP Clinvar
31652292 2089.1 G A PASS 1/1 218 NON_SYNONYMOUS_CODING MODERATE None 0.49002 0.49000 0.35276 0.02 0.18 None None None None None None BPIFB3|0.02436257|72.06%
View 045_tsvc_variants 20 rs6057717
dbSNP Clinvar
31656632 590.72 C G PASS 1/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.48203 0.48200 0.34069 0.17 0.11 None None None None None None BPIFB3|0.02436257|72.06%

BPIFB4

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 045_tsvc_variants 20 rs2070325
dbSNP Clinvar
31673846 3546.15 A G PASS 1/1 370 NON_SYNONYMOUS_CODING MODERATE None 0.46546 0.46550 0.32946 0.02 0.42 None None None None None None BPIFB4|0.029100431|69.82%
View 045_tsvc_variants 20 rs2889732
dbSNP Clinvar
31676804 846.47 A C PASS 1/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.55152 0.55150 0.42134 0.04 0.68 None None None None None None BPIFB4|0.029100431|69.82%

BPIFB6

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 045_tsvc_variants 20 rs4911287
dbSNP Clinvar
31627291 861.3 A G PASS 1/1 89 NON_SYNONYMOUS_CODING MODERATE None 0.60643 0.60640 0.48470 1.00 0.00 None None None None None None BPIFB6|0.017668453|75.5%
View 045_tsvc_variants 20 rs148120627
dbSNP Clinvar
31619527 187.67 G A PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.00015 0.02 0.95 None None None None None None BPIFB6|0.017668453|75.5%
View 045_tsvc_variants 20 rs2070317
dbSNP Clinvar
31622083 847.13 G A PASS 1/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.56909 0.56910 0.48831 1.00 0.00 None None None None None None BPIFB6|0.017668453|75.5%

C20orf141

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 045_tsvc_variants 20 rs12625619
dbSNP Clinvar
2796007 331.21 G A PASS 0/1 154 SYNONYMOUS_CODING LOW None 0.14617 0.14620 0.14024 None None None None None None TMEM239|0.034807661|67.52%,C20orf141|0.004243166|86.69%

C20orf166

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 045_tsvc_variants 20 rs6143064
dbSNP Clinvar
61167883 138.96 G A PASS 0/1 81 SYNONYMOUS_STOP LOW None 0.26358 0.26360 0.29365 None None None None None None MIR1-1HG|0.000293671|99.44%
View 045_tsvc_variants 20 rs6062251
dbSNP Clinvar
61162267 435.26 T C PASS 1/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.57668 0.57670 0.36851 1.00 0.00 None None None None None None MIR1-1HG|0.000293671|99.44%

C20orf194

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 045_tsvc_variants 20 rs2254916
dbSNP Clinvar
3285126 272.1 A T PASS 0/1 109 SYNONYMOUS_CODING LOW None 0.25539 0.25540 0.23607 None None None None None None C20orf194|0.217196802|34.71%
View 045_tsvc_variants 20 rs2422864
dbSNP Clinvar
3285140 1048.38 T C PASS 1/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.93371 0.93370 0.12173 1.00 0.00 None None None None None None C20orf194|0.217196802|34.71%

C20orf195

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 045_tsvc_variants 20 rs3746348
dbSNP Clinvar
62187187 189.95 T C PASS 0/1 174 SYNONYMOUS_CODING LOW None 0.66314 0.66310 0.46071 None None None None None None C20orf195|0.069407522|57.62%
View 045_tsvc_variants 20 rs734750
dbSNP Clinvar
62187439 285.99 T C PASS 0/1 119 SYNONYMOUS_CODING LOW None 0.68371 0.68370 0.49354 None None None None None None C20orf195|0.069407522|57.62%

C20orf201

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 045_tsvc_variants 20 rs4431000
dbSNP Clinvar
62715548 37.17 C A PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.48463 0.48460 0.33617 0.00 0.97 None None None None None None OPRL1|0.253276549|31.26%,LKAAEAR1|0.00333726|88.03%
View 045_tsvc_variants 20 rs6010717
dbSNP Clinvar
62714783 192.68 C G PASS 0/1 94 SYNONYMOUS_CODING LOW None 0.62460 0.62460 0.37159 None None None None None None OPRL1|0.253276549|31.26%,LKAAEAR1|0.00333726|88.03%

C20orf26

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 045_tsvc_variants 20 rs6081901
dbSNP Clinvar
20144772 312.06 G A PASS 0/1 158 NON_SYNONYMOUS_CODING MODERATE None 0.45887 0.45890 0.44403 0.37 0.00 None None None None None None CFAP61|0.103943105|50.42%

C20orf96

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 045_tsvc_variants 20 rs3827147
dbSNP Clinvar
256727 315.89 T A PASS 0/1 176 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.63518 0.63520 0.34553 1.00 0.00 None None None None None None C20orf96|0.00266282|89.34%
View 045_tsvc_variants 20 rs2277781
dbSNP Clinvar
257733 1127.58 A G PASS 1/1 117 SYNONYMOUS_CODING LOW None 0.64717 0.64720 0.32424 None None None None None None C20orf96|0.00266282|89.34%

CABLES2

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 045_tsvc_variants 20 rs1570027
dbSNP Clinvar
60968596 170.49 A G PASS 0/1 99 SYNONYMOUS_CODING LOW None 0.20248 0.20250 0.22705 None None None None None None CABLES2|0.058513615|60.25%
View 045_tsvc_variants 20 rs61742254
dbSNP Clinvar
60966460 200.92 C G PASS 0/1 151 NON_SYNONYMOUS_CODING MODERATE None 0.00659 0.00659 0.01799 0.35 0.79 None None None None None None CABLES2|0.058513615|60.25%
View 045_tsvc_variants 20 rs6089219
dbSNP Clinvar
60966318 488.26 G T PASS 1/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.90256 0.90260 0.05521 1.00 0.00 None None None None None None CABLES2|0.058513615|60.25%

CASS4

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 045_tsvc_variants 20 rs3746623
dbSNP Clinvar
55033476 69.38 C G PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.52596 0.52600 0.36191 None None None None None None CASS4|0.007706606|82.84%
View 045_tsvc_variants 20 rs3746624
dbSNP Clinvar
55033635 419.2 C T PASS 0/1 218 SYNONYMOUS_CODING LOW None 0.36861 0.36860 0.26019 None None None None None None CASS4|0.007706606|82.84%
View 045_tsvc_variants 20 rs3746625
dbSNP Clinvar
55033647 405.59 T C PASS 0/1 218 SYNONYMOUS_CODING LOW None 0.52576 0.52580 0.36160 None None None None None None CASS4|0.007706606|82.84%
View 045_tsvc_variants 20 rs3746626
dbSNP Clinvar
55033713 556.42 G A PASS 0/1 223 SYNONYMOUS_CODING LOW None 0.52556 0.52560 0.36025 None None None None None None CASS4|0.007706606|82.84%
View 045_tsvc_variants 20 rs2870738
dbSNP Clinvar
55028167 94.69 G A PASS 0/1 60 SYNONYMOUS_CODING LOW None 0.37740 0.37740 0.26576 None None None None None None CASS4|0.007706606|82.84%

CBFA2T2

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 045_tsvc_variants 20 rs3803939
dbSNP Clinvar
32212690 326.14 C T PASS 0/1 98 SYNONYMOUS_CODING LOW None 0.66913 0.66910 0.41796 None None None None None None CBFA2T2|0.275255923|29.51%

CCM2L

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 045_tsvc_variants 20 rs112249840
dbSNP Clinvar
30602775 585.49 C T PASS 0/1 194 SYNONYMOUS_CODING LOW None 0.05491 0.05491 0.08273 None None None None None None CCM2L|0.097070996|51.71%
View 045_tsvc_variants 20 rs6089151
dbSNP Clinvar
30616835 149.43 G A PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.01877 0.01877 0.04052 None None None None None None CCM2L|0.097070996|51.71%

CDC25B

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 045_tsvc_variants 20 rs2228465
dbSNP Clinvar
3782702 279.27 G A PASS 0/1 119 SYNONYMOUS_CODING LOW None 0.03335 0.03335 0.03703 None None None None None None CDC25B|0.242518934|32.24%
View 045_tsvc_variants 20 rs1056720
dbSNP Clinvar
3784110 1846.09 C T PASS 1/1 193 SYNONYMOUS_CODING LOW None 0.23003 0.23000 0.20498 None None None None None None CDC25B|0.242518934|32.24%

CDH4

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 045_tsvc_variants 20 rs2427240
dbSNP Clinvar
60485627 1030.3 C T PASS 1/1 121 SYNONYMOUS_CODING LOW None 0.70487 0.70490 0.17000 None None None None None None CDH4|0.197684425|36.97%

CDK5RAP1

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 045_tsvc_variants 20 rs291700
dbSNP Clinvar
31981849 188.16 T C PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.59565 0.59560 0.36552 None None None None None None CDK5RAP1|0.141646377|44.19%

CEP250

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 045_tsvc_variants 20 rs2274238
dbSNP Clinvar
34089718 258.79 G T PASS 0/1 148 SYNONYMOUS_CODING LOW None 0.07228 0.07228 0.03199 None None None None None None CEP250|0.102943293|50.61%
View 045_tsvc_variants 20 rs41290926
dbSNP Clinvar
34092171 394.75 C T PASS 0/1 158 NON_SYNONYMOUS_CODING MODERATE None 0.00120 0.00120 0.00269 0.10 0.00 None None None None None None CEP250|0.102943293|50.61%

CHRNA4

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 045_tsvc_variants 20 rs1044394
dbSNP Clinvar
61982085 656.26 A G PASS 1/1 69 SYNONYMOUS_CODING LOW None 0.86362 0.86360 0.15670 None None None None None None CHRNA4|0.164276334|40.99%
View 045_tsvc_variants 20 rs1044393
dbSNP Clinvar
61982124 543.51 A G PASS 1/1 57 SYNONYMOUS_CODING LOW None 0.75719 0.75720 0.23305 None None None None None None CHRNA4|0.164276334|40.99%
View 045_tsvc_variants 20 rs2229959
dbSNP Clinvar
61981554 1560.06 C A PASS 1/1 181 SYNONYMOUS_CODING LOW None 0.73383 0.73380 0.24861 None None None None None None CHRNA4|0.164276334|40.99%
View 045_tsvc_variants 20 rs2229960
dbSNP Clinvar
61981536 1636.28 A G PASS 1/1 180 SYNONYMOUS_CODING LOW None 0.87081 0.87080 0.14286 None None None None None None CHRNA4|0.164276334|40.99%
View 045_tsvc_variants 20 rs1044396
dbSNP Clinvar
61981134 2606.86 G A PASS 1/1 279 SYNONYMOUS_CODING LOW None 0.32348 0.32350 0.40831 None None None None None None CHRNA4|0.164276334|40.99%
View 045_tsvc_variants 20 rs1044397
dbSNP Clinvar
61981104 2635.12 C T PASS 1/1 278 SYNONYMOUS_CODING LOW None 0.35184 0.35180 0.40943 None None None None None None CHRNA4|0.164276334|40.99%

CNBD2

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 045_tsvc_variants 20 rs6060750
dbSNP Clinvar
34596371 187.73 C T PASS 0/1 123 NON_SYNONYMOUS_CODING MODERATE None 0.30990 0.30990 0.23635 0.08 0.09 None None None None None None CNBD2|0.015554621|76.76%

COL20A1

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 045_tsvc_variants 20 rs4809287
dbSNP Clinvar
61941747 2133.57 A G PASS 1/1 213 SYNONYMOUS_CODING LOW None 0.95347 0.95350 0.04211 None None None None None None COL20A1|0.010214941|80.7%
View 045_tsvc_variants 20 rs6089881
dbSNP Clinvar
61951489 893.09 G C PASS 1/1 94 SYNONYMOUS_CODING LOW None 0.88379 0.88380 0.09093 None None None None None None COL20A1|0.010214941|80.7%

COL9A3

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 045_tsvc_variants 20 rs2294995
dbSNP Clinvar
61468571 316.09 T C PASS 0/1 124 SYNONYMOUS_CODING LOW None 0.70986 0.70990 0.23560 None None None None None None COL9A3|0.05194578|62.08%

CPNE1

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 045_tsvc_variants 20 rs12481228
dbSNP Clinvar
34218673 103.37 G C PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.10363 0.10360 0.09988 0.01 0.66 None None None None None None CPNE1|0.256351532|31.02%
View 045_tsvc_variants 20 rs147019139
dbSNP Clinvar
34215234 406.95 C CA PASS 0/1 195 FRAME_SHIFT HIGH None 0.10603 0.10600 0.10050 None None None None None None CPNE1|0.256351532|31.02%
View 045_tsvc_variants 20 rs11543239
dbSNP Clinvar
34214173 200.58 G A PASS 0/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.08966 0.08966 0.07005 0.03 0.01 None None None None None None CPNE1|0.256351532|31.02%
View 045_tsvc_variants 20 rs6579255
dbSNP Clinvar
34219496 388.46 T C PASS 0/1 213 NON_SYNONYMOUS_CODING MODERATE None 0.27197 0.27200 0.25965 0.47 0.00 None None None None None None CPNE1|0.256351532|31.02%

CRNKL1

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 045_tsvc_variants 20 rs2255258
dbSNP Clinvar
20033137 68.41 T A PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.70088 0.70090 0.40904 0.78 0.00 None None None None None None CRNKL1|0.403355497|20.56%
View 045_tsvc_variants 20 rs2255255
dbSNP Clinvar
20032998 427.7 T C PASS 0/1 233 NON_SYNONYMOUS_CODING MODERATE None 0.51897 0.51900 0.46371 0.16 0.00 None None None None None None CRNKL1|0.403355497|20.56%
View 045_tsvc_variants 20 rs2273057
dbSNP Clinvar
20033242 624.38 A T PASS 0/1 217 SYNONYMOUS_CODING LOW None 0.51897 0.51900 0.46378 None None None None None None CRNKL1|0.403355497|20.56%,CFAP61|0.103943105|50.42%
View 045_tsvc_variants 20 rs2273058
dbSNP Clinvar
20033319 303.96 A G PASS 0/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.51997 0.52000 0.46189 0.85 0.00 None None None None None None CRNKL1|0.403355497|20.56%,CFAP61|0.103943105|50.42%
View 045_tsvc_variants 20 rs7508949
dbSNP Clinvar
20033367 336.15 C G PASS 0/1 191 NON_SYNONYMOUS_CODING MODERATE None 0.24241 0.24240 0.32629 0.00 None None None None None None CRNKL1|0.403355497|20.56%,CFAP61|0.103943105|50.42%
View 045_tsvc_variants 20 rs3817995
dbSNP Clinvar
20033380 343.21 A G PASS 0/1 187 SYNONYMOUS_CODING LOW None 0.51897 0.51900 0.45473 None None None None None None CRNKL1|0.403355497|20.56%,CFAP61|0.103943105|50.42%

CSNK2A1

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 045_tsvc_variants 20 rs919408183
dbSNP Clinvar
472916 190.45 C T PASS 0/1 117 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None CSNK2A1|0.923858503|2.89%

CSRP2BP

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 045_tsvc_variants 20 rs2747404
dbSNP Clinvar
18167977 770.36 T C PASS 1/1 85 SYNONYMOUS_CODING LOW None 0.99101 0.99100 0.01576 None None None None None None CSRP2BP|0.117112066|47.93%
View 045_tsvc_variants 20 rs1205193
dbSNP Clinvar
18143117 1013.79 T G PASS 1/1 97 NON_SYNONYMOUS_CODING MODERATE None 0.99062 0.99060 0.01938 0.35 0.00 None None None None None None CSRP2BP|0.117112066|47.93%

CST1

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 045_tsvc_variants 20 rs3188314
dbSNP Clinvar
23729722 1557.62 G T PASS 1/1 163 SYNONYMOUS_CODING LOW None None None None None None None CST1|0.001682588|91.95%