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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
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EXCLUDE ALL VARIANTS PRESENT IN DBSNP
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Genes at Omim

ATP8A2, BRCA2, CARS2, CENPJ, CLN5, COG6, COL4A1, COL4A2, DAOA, DIAPH3, EDNRB, ERCC5, EXOSC8, F10, FGF9, FLT3, FREM2, GJA3, GRK1, HTR2A, ING1, IRS2, KL, MIPEP, NALCN, PCCA, PIBF1, POLR1D, PROZ, SACS, SGCG, SLC10A2, SLC25A15, SLITRK6, SPG20, SPRY2, SUCLA2, TBC1D4,
ATP8A2 ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, 615268 (3)
BRCA2 Fanconi anemia, complementation group D1, 605724 (3)
{Glioblastoma 3}, 613029 (3)
{Medulloblastoma}, 155255 (3)
{Pancreatic cancer 2}, 613347 (3)
{Prostate cancer}, 176807 (3)
Wilms tumor, 194070 (3)
{Breast cancer, male, susceptibility to}, 114480 (3)
{Breast-ovarian cancer, familial, 2}, 612555 (3)
CARS2 Combined oxidative phosphorylation deficiency 27, 616672 (3)
CENPJ Microcephaly 6, primary, autosomal recessive, 608393 (3)
?Seckel syndrome 4, 613676 (3)
CLN5 Ceroid lipofuscinosis, neuronal, 5, 256731 (3)
COG6 Congenital disorder of glycosylation, type IIl, 614576 (3)
Shaheen syndrome, 615328 (3)
COL4A1 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3)
{Hemorrhage, intracerebral, susceptibility to}, 614519 (3)
Brain small vessel disease with or without ocular anomalies, 175780 (3)
?Retinal arteries, tortuosity of, 180000 (3)
Schizencephaly, 269160 (3)
COL4A2 {Hemorrhage, intracerebral, susceptibility to}, 614519 (3)
Brain small vessel disease 2, 614483 (3)
DAOA {Schizophrenia}, 181500 (2)
DIAPH3 Auditory neuropathy, autosomal dominant, 1, 609129 (3)
EDNRB {Hirschsprung disease, susceptibility to, 2}, 600155 (3)
ABCD syndrome, 600501 (3)
Waardenburg syndrome, type 4A, 277580 (3)
ERCC5 Cerebrooculofacioskeletal syndrome 3, 616570 (3)
Xeroderma pigmentosum, group G, 278780 (3)
Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3)
EXOSC8 Pontocerebellar hypoplasia, type 1C, 616081 (3)
F10 Factor X deficiency, 227600 (3)
FGF9 Multiple synostoses syndrome 3, 612961 (3)
FLT3 Leukemia, acute lymphoblastic, somatic, 613065 (3)
Leukemia, acute myeloid, reduced survival in, somatic, 601626 (3)
Leukemia, acute myeloid, somatic, 601626 (3)
FREM2 Fraser syndrome 2, 617666 (3)
GJA3 Cataract 14, multiple types, 601885 (3)
GRK1 Oguchi disease-2, 613411 (3)
HTR2A {Major depressive disorder, response to citalopram therapy in}, 608516 (3)
{Obsessive-compulsive disorder, susceptibility to}, 164230 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
{Seasonal affective disorder, susceptibility to}, 608516 (3)
{Alcohol dependence, susceptibility to}, 103780 (3)
{Anorexia nervosa, susceptibility to}, 606788 (3)
ING1 Squamous cell carcinoma, head and neck, somatic, 275355 (3)
IRS2 {Diabetes mellitus, noninsulin-dependent}, 125853 (3)
KL ?Tumoral calcinosis, hyperphosphatemic, familial, 3, 617994 (3)
MIPEP Combined oxidative phosphorylation deficiency 31, 617228 (3)
NALCN Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266 (3)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 (3)
PCCA Propionicacidemia, 606054 (3)
PIBF1 Joubert syndrome 33, 617767 (3)
POLR1D Treacher Collins syndrome 2, 613717 (3)
PROZ [Protein Z deficiency], 614024 (3)
SACS Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)
SGCG Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 (3)
SLC10A2 Bile acid malabsorption, primary, 613291 (3)
SLC25A15 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)
SLITRK6 Deafness and myopia, 221200 (3)
SPG20 Troyer syndrome, 275900 (3)
SPRY2 {?IgA nephropathy, susceptibility to, 3}, 616818 (3)
SUCLA2 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3)
TBC1D4 {Diabetes mellitus, noninsulin-dependent, 5}, 616087 (3)

Genes at Clinical Genomics Database

BRCA2, CARS2, CENPJ, CLN5, COG6, COL4A1, COL4A2, EDNRB, ERCC5, EXOSC8, F10, FGF9, FREM2, GJA3, GRK1, HTR2A, IFT88, KL, NALCN, PCCA, POLR1D, PROZ, RXFP2, SACS, SGCG, SLC10A2, SLC25A15, SLITRK6, SPG20, SPRY2, SUCLA2, TBC1D4,
BRCA2 Breast-ovarian cancer, familial, susceptibility to
Pancreatic cancer, susceptibility to, 2
Glioma susceptibility 3
Fanconi anemia, complementation group D1
Wilms tumor
Medulloblastoma
CARS2 Combined oxidative phosphorylation deficiency 27
CENPJ Seckel syndrome 4
Microcephaly, primary autosomal recessive, 6
CLN5 Ceroid lipofuscinosis, neuronal, 5
COG6 Congenital disorder of glycosylation, type Iil
COL4A1 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
Brain small vessel disease with or without ocular anomalies
Anterior segment dysgenesis with cerebral involvement
Porencephaly 1
Retinal artery tortuosity
Schizencephaly
COL4A2 Hemorrhage, intracerebral, susceptibility to
EDNRB Waardenburg syndrome type 4A
ABCD syndrome
Hirschsprung disease, susceptibility to, 2
ERCC5 Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G/Cockayne syndrome
EXOSC8 Pontocerebellar hypoplasia, type 1C
F10 Factor X deficiency
FGF9 Multiple synostoses syndrome 3
FREM2 Fraser syndrome
GJA3 Cataract 14, multiple types
GRK1 Oguchi disease 2
HTR2A Major depressive disorder, response to citalopram therapy in
Clozapine, response to
IFT88 Ciliopathy, IFT88-related
KL Tumoral calcinosis, hyperphosphatemic
NALCN Congenital contractures of the limbs and face, hypotonia, and developmental delay
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
PCCA Propionic acidemia
POLR1D Treacher Collins syndrome 2
PROZ Protein Z deficiency
RXFP2 Cryptorchidism
SACS Spastic ataxia, Charlevoix-Saguenay type
SGCG Muscular dystrophy, limb-girdle, type 2C
SLC10A2 Bile acid malabsorption, primary
SLC25A15 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
SLITRK6 Deafness and myopia
SPG20 Spastic paraplegia 20 (Troyer syndrome)
SPRY2 IgA nephropathy, susceptibility to, 3
SUCLA2 Mitochondrial DNA depletion syndrome 5
TBC1D4 Diabetes mellitus, noninsulin-dependent 5

Genes at HGMD

Summary

Number of Variants: 657
Number of Genes: 142

Export to: CSV

ABCC4

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 030_tsvc_variants 13 rs1678339
dbSNP Clinvar
95727780 448.41 T C PASS 0/1 144 SYNONYMOUS_CODING LOW None 0.88778 0.88780 0.07420 None None None None None None ABCC4|0.142494523|44.07%
View 030_tsvc_variants 13 rs1189466
dbSNP Clinvar
95726541 445.262 A G PASS 0/1 201 SYNONYMOUS_CODING LOW None 0.90355 0.90360 0.05467 None None None None None None ABCC4|0.142494523|44.07%

ATP11A

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 030_tsvc_variants 13 rs11616795
dbSNP Clinvar
113530199 190.455 G A PASS 0/1 117 NON_SYNONYMOUS_CODING MODERATE None 0.08207 0.08207 0.07835 0.89 0.00 None None None None None None ATP11A|0.13314168|45.42%

ATP12A

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 030_tsvc_variants 13 rs2289901
dbSNP Clinvar
25272870 129.6 C T PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.24780 0.24780 0.24143 None None None None None None ATP12A|0.195110246|37.26%

ATP4B

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 030_tsvc_variants 13 rs11164142
dbSNP Clinvar
114309226 129.258 G A PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.47324 0.47320 0.39028 None None None None None None ATP4B|0.020415795|73.96%
View 030_tsvc_variants 13 rs9285616
dbSNP Clinvar
114312354 136.3 T G PASS 1/1 15 SYNONYMOUS_CODING LOW None 1.00000 1.00000 0.00008 None None None None None None ATP4B|0.020415795|73.96%

ATP8A2

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 030_tsvc_variants 13 rs6491088
dbSNP Clinvar
26273385 664.501 G C PASS 1/1 69 SYNONYMOUS_CODING LOW None 0.98742 0.98740 0.01018 None None None None None None ATP8A2|0.338221309|24.95%
View 030_tsvc_variants 13 rs6491066
dbSNP Clinvar
26148966 569.669 C T PASS 1/1 60 SYNONYMOUS_CODING LOW None 0.53634 0.53630 0.29168 None None None None None None ATP8A2|0.338221309|24.95%

B3GALTL

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 030_tsvc_variants 13 rs1041073
dbSNP Clinvar
31891746 1904.14 G A PASS 1/1 200 NON_SYNONYMOUS_CODING MODERATE None 0.66673 0.66670 0.34461 0.03 0.47 None None None None None None B3GALTL|0.110722838|49.06%
View 030_tsvc_variants 13 rs34638481
dbSNP Clinvar
31891743 412.391 G A PASS 0/1 203 NON_SYNONYMOUS_CODING MODERATE None 0.01278 0.01278 0.02460 1.00 0.00 None None None None None None B3GALTL|0.110722838|49.06%
View 030_tsvc_variants 13 rs4943266
dbSNP Clinvar
31821992 466.12 T C PASS 1/1 54 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.97544 0.97540 0.03601 None None None None None None B3GALTL|0.110722838|49.06%

BRCA2

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 030_tsvc_variants 13 rs144848
dbSNP Clinvar
32906729 121.401 A C PASS 0/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.24940 0.24940 0.23321 0.06 0.86 None None None None None None BRCA2|0.561492787|13.3%
View 030_tsvc_variants 13 rs169547
dbSNP Clinvar
32929387 508.508 T C PASS 1/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.97584 0.97580 0.02230 1.00 0.00 None None None None None None BRCA2|0.561492787|13.3%
View 030_tsvc_variants 13 rs206076
dbSNP Clinvar
32915005 531.504 G C PASS 1/1 56 SYNONYMOUS_CODING LOW None 0.00040 0.97360 0.02453 None None None None None None BRCA2|0.561492787|13.3%
View 030_tsvc_variants 13 rs206075
dbSNP Clinvar
32913055 267.061 A G PASS 1/1 28 SYNONYMOUS_CODING LOW None 0.97404 0.97400 0.02423 None None None None None None BRCA2|0.561492787|13.3%
View 030_tsvc_variants 13 rs543304
dbSNP Clinvar
32912299 124.229 T C PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.16813 0.16810 0.19111 None None None None None None BRCA2|0.561492787|13.3%

C1QTNF9B

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 030_tsvc_variants 13 rs3864970
dbSNP Clinvar
24465717 101.213 A G PASS 0/1 126 NON_SYNONYMOUS_CODING MODERATE None 0.29673 0.29670 0.03 0.00 None None None None None None C1QTNF9B|0.013563559|78.16%
View 030_tsvc_variants 13 rs3864971
dbSNP Clinvar
24465743 1155.88 A G PASS 1/1 122 SYNONYMOUS_CODING LOW None 0.98383 0.98380 0.01517 None None None None None None C1QTNF9B|0.013563559|78.16%

CAB39L

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 030_tsvc_variants 13 rs8002858
dbSNP Clinvar
49951193 109.014 T C PASS 0/1 106 SYNONYMOUS_CODING LOW None 0.49581 0.49580 0.41865 None None None None None None CAB39L|0.342406603|24.66%

CARKD

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 030_tsvc_variants 13 rs41275124
dbSNP Clinvar
111290628 268.747 G C PASS 0/1 188 NON_SYNONYMOUS_CODING MODERATE None 0.01418 0.01418 0.03437 0.39 0.01 None None None None None None CARKD|0.007460378|83.11%
View 030_tsvc_variants 13 rs9521879
dbSNP Clinvar
111286939 157.379 C T PASS 0/1 93 SYNONYMOUS_CODING LOW None 0.00679 0.00679 0.01492 None None None None None None CARKD|0.007460378|83.11%
View 030_tsvc_variants 13 rs41275126
dbSNP Clinvar
111290630 266.699 T C PASS 0/1 184 NON_SYNONYMOUS_CODING MODERATE None 0.08546 0.08546 0.11133 0.07 0.04 None None None None None None CARKD|0.007460378|83.11%

CARS2

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 030_tsvc_variants 13 rs4628819
dbSNP Clinvar
111319754 1293.27 T C PASS 1/1 141 SYNONYMOUS_CODING LOW None 0.76238 0.76240 0.22520 None None None None None None CARS2|0.018441874|74.99%
View 030_tsvc_variants 13 rs436462
dbSNP Clinvar
111298392 180.061 A G PASS 0/1 98 SYNONYMOUS_CODING LOW None 0.47424 0.47420 0.41281 None None None None None None CARS2|0.018441874|74.99%
View 030_tsvc_variants 13 rs1043886
dbSNP Clinvar
111293915 204.562 T G PASS 0/1 114 NON_SYNONYMOUS_CODING MODERATE None 0.08187 0.08187 0.10441 0.49 0.00 None None None None None None CARS2|0.018441874|74.99%
View 030_tsvc_variants 13 rs9521906
dbSNP Clinvar
111358000 276.857 T G PASS 0/1 86 None None None 0.09205 0.09205 0.71 0.01 None None None None None None CARS2|0.018441874|74.99%

CCDC169

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 030_tsvc_variants 13 rs1998800
dbSNP Clinvar
36857639 148.834 T C PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.29133 0.29130 None None None None None None SOHLH2|0.025487064|71.56%,CCDC169-SOHLH2|0.024786398|71.88%,CCDC169|0.01125788|79.84%
View 030_tsvc_variants 13 rs9546785
dbSNP Clinvar
36801415 1334.15 C T PASS 1/1 143 NON_SYNONYMOUS_CODING MODERATE None 0.37760 0.37760 0.41196 0.01 0.98 None None None None None None SOHLH2|0.025487064|71.56%,CCDC169-SOHLH2|0.024786398|71.88%,CCDC169|0.01125788|79.84%

CCDC169-SOHLH2

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 030_tsvc_variants 13 rs9546897
dbSNP Clinvar
36828237 125.83 T C PASS 1/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.37580 0.37580 1.00 0.00 None None None None None None SOHLH2|0.025487064|71.56%,CCDC169-SOHLH2|0.024786398|71.88%,CCDC169|0.01125788|79.84%

CCDC70

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 030_tsvc_variants 13 rs1054515
dbSNP Clinvar
52440130 136.307 A G PASS 1/1 15 NON_SYNONYMOUS_CODING MODERATE None 0.35583 0.35580 0.32324 0.51 0.00 None None None None None None CCDC70|0.003653963|87.51%

CENPJ

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 030_tsvc_variants 13 rs3742165
dbSNP Clinvar
25466955 1230.56 T C PASS 1/1 132 SYNONYMOUS_CODING LOW None 0.48403 0.48400 0.45187 None None None None None None CENPJ|0.084211858|54.37%

CKAP2

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 030_tsvc_variants 13 rs7335867
dbSNP Clinvar
53035925 1350.94 A G PASS 1/1 140 NON_SYNONYMOUS_CODING MODERATE None 0.99960 0.99960 0.00031 1.00 0.00 None None None None None None CKAP2|0.618697736|11.13%
View 030_tsvc_variants 13 rs7337054
dbSNP Clinvar
53035783 1286.29 T C PASS 1/1 137 SYNONYMOUS_CODING LOW None 0.99740 0.99740 0.00292 None None None None None None CKAP2|0.618697736|11.13%

CLN5

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 030_tsvc_variants 13 rs138037471
dbSNP Clinvar
77566320 59.8083 C G PASS 0/1 41 SYNONYMOUS_CODING LOW None 0.01298 0.01298 0.02260 None None None None None None CLN5|0.079356583|55.32%

CLYBL

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 030_tsvc_variants 13 rs3783185
dbSNP Clinvar
100518580 159.159 A G PASS 0/1 126 NON_SYNONYMOUS_CODING MODERATE None 0.82508 0.82510 0.23697 0.06 0.23 None None None None None None CLYBL|0.43420364|18.99%
View 030_tsvc_variants 13 rs41281112
dbSNP Clinvar
100518634 159.164 C T PASS 0/1 126 STOP_GAINED HIGH None 0.02196 0.02196 0.02053 None None None None None None CLYBL|0.43420364|18.99%

COG3

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 030_tsvc_variants 13 rs3014902
dbSNP Clinvar
46108853 1225.93 T C PASS 1/1 130 NON_SYNONYMOUS_CODING MODERATE None 0.99820 0.99820 0.00200 1.00 0.00 None None None None None None COG3|0.283875936|28.81%,ERICH6B|0.000395053|98.98%
View 030_tsvc_variants 13 rs3014960
dbSNP Clinvar
46077381 677.133 G A PASS 1/1 70 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.90336 0.90340 0.09573 None None None None None None COG3|0.283875936|28.81%
View 030_tsvc_variants 13 rs2274285
dbSNP Clinvar
46103935 275.656 A G PASS 0/1 148 NON_SYNONYMOUS_CODING MODERATE None 0.68191 0.68190 0.33208 1.00 0.00 None None None None None None COG3|0.283875936|28.81%
View 030_tsvc_variants 13 rs2985989
dbSNP Clinvar
46108854 1201.72 G A PASS 1/1 130 SYNONYMOUS_CODING LOW None 0.81370 0.81370 0.21127 None None None None None None COG3|0.283875936|28.81%,ERICH6B|0.000395053|98.98%

COG6

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 030_tsvc_variants 13 rs3812883
dbSNP Clinvar
40229957 254.962 T A PASS 1/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.48423 0.48420 0.41606 0.80 0.00 None None None None None None COG6|0.303873453|27.36%
View 030_tsvc_variants 13 rs3812882
dbSNP Clinvar
40229891 231.769 G A PASS 1/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.48443 0.48440 0.43809 0.09 0.00 None None None None None None COG6|0.303873453|27.36%

COL4A1

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 030_tsvc_variants 13 rs874203
dbSNP Clinvar
110827574 1413.74 T A PASS 1/1 151 SYNONYMOUS_CODING LOW None 0.31789 0.31790 0.33592 None None None None None None COL4A1|0.224151486|33.94%
View 030_tsvc_variants 13 rs536174
dbSNP Clinvar
110839550 1736.2 T G PASS 1/1 179 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None COL4A1|0.224151486|33.94%
View 030_tsvc_variants 13 rs874204
dbSNP Clinvar
110827580 1387.14 C T PASS 1/1 152 SYNONYMOUS_CODING LOW None 0.31809 0.31810 0.33592 None None None None None None COL4A1|0.224151486|33.94%
View 030_tsvc_variants 13 rs16975492
dbSNP Clinvar
110833702 847.166 C T PASS 1/1 92 SYNONYMOUS_CODING LOW None 0.30711 0.30710 0.32162 None None None None None None COL4A1|0.224151486|33.94%
View 030_tsvc_variants 13 rs995224
dbSNP Clinvar
110850842 2687.98 A G PASS 1/1 274 SYNONYMOUS_CODING LOW None 0.20647 0.20650 0.25250 None None None None None None COL4A1|0.224151486|33.94%
View 030_tsvc_variants 13 rs9515185
dbSNP Clinvar
110959356 85.7636 C G PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.42412 0.42410 0.00 None None None None None None COL4A1|0.224151486|33.94%,COL4A2|0.044971251|64.22%

COL4A2

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 030_tsvc_variants 13 rs7990214
dbSNP Clinvar
111111173 240.223 G A PASS 0/1 79 SYNONYMOUS_CODING LOW None 0.49141 0.49140 0.37904 None None None None None None COL4A2|0.044971251|64.22%
View 030_tsvc_variants 13 rs391859
dbSNP Clinvar
111160304 360.317 G A PASS 0/1 137 SYNONYMOUS_CODING LOW None 0.10084 0.10080 0.08723 None None None None None None COL4A2|0.044971251|64.22%
View 030_tsvc_variants 13 rs4103
dbSNP Clinvar
111098226 266.81 C T PASS 0/1 126 SYNONYMOUS_CODING LOW None 0.48283 0.48280 0.48987 None None None None None None COL4A2|0.044971251|64.22%
View 030_tsvc_variants 13 rs445348
dbSNP Clinvar
111158874 1189.44 A G PASS 1/1 122 SYNONYMOUS_CODING LOW None 0.75200 0.75200 0.12908 None None None None None None COL4A2|0.044971251|64.22%
View 030_tsvc_variants 13 rs4771683
dbSNP Clinvar
111156499 554.974 C T PASS 1/1 57 SYNONYMOUS_CODING LOW None 0.93590 0.93590 0.05438 None None None None None None COL4A2|0.044971251|64.22%
View 030_tsvc_variants 13 rs4773199
dbSNP Clinvar
111155779 1807.11 G A PASS 1/1 192 SYNONYMOUS_CODING LOW None 0.18630 0.18630 0.24198 None None None None None None COL4A2|0.044971251|64.22%
View 030_tsvc_variants 13 rs438758
dbSNP Clinvar
111155773 1763.82 T C PASS 1/1 192 SYNONYMOUS_CODING LOW None 0.98023 0.98020 0.01286 None None None None None None COL4A2|0.044971251|64.22%
View 030_tsvc_variants 13 rs409858
dbSNP Clinvar
111154061 940.79 T C PASS 1/1 98 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05167 None None None None None None COL4A2|0.044971251|64.22%
View 030_tsvc_variants 13 rs439831
dbSNP Clinvar
111154058 940.782 T A PASS 1/1 98 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05156 None None None None None None COL4A2|0.044971251|64.22%
View 030_tsvc_variants 13 rs3803230
dbSNP Clinvar
111119396 107.326 G C PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.10383 0.10380 0.10350 0.46 0.01 None None None None None None COL4A2|0.044971251|64.22%
View 030_tsvc_variants 13 rs4238272
dbSNP Clinvar
111077197 1985.19 G A PASS 1/1 214 SYNONYMOUS_CODING LOW None 0.94269 0.94270 0.06729 None None None None None None COL4A2|0.044971251|64.22%
View 030_tsvc_variants 13 rs7990383
dbSNP Clinvar
111111235 225.417 G A PASS 0/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.50919 0.50920 0.36542 0.99 0.00 None None None None None None COL4A2|0.044971251|64.22%

CPB2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 13 rs2277440
dbSNP Clinvar
46638826 442.854 G A PASS 0/1 133 SYNONYMOUS_CODING LOW None 0.14337 0.14340 0.08381 None None None None None None CPB2|0.106282021|49.92%
View 030_tsvc_variants 13 rs1926447
dbSNP Clinvar
46629944 106.986 A G PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.78315 0.78310 0.24293 0.76 0.00 None None None None None None CPB2|0.106282021|49.92%
View 030_tsvc_variants 13 rs7337140
dbSNP Clinvar
46641481 168.401 T C PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.80671 0.80670 0.21529 None None None None None None CPB2|0.106282021|49.92%
View 030_tsvc_variants 13 rs2296642
dbSNP Clinvar
46656669 208.025 A G PASS 0/1 106 SYNONYMOUS_CODING LOW None 0.79872 0.79870 0.22044 None None None None None None CPB2|0.106282021|49.92%

CUL4A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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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 030_tsvc_variants 13 rs2302757
dbSNP Clinvar
113909339 200.867 A G PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.25160 0.25160 0.16931 0.19 0.04 None None None None None None CUL4A|0.220669168|34.36%
View 030_tsvc_variants 13 rs3764124
dbSNP Clinvar
113897320 190.539 C T PASS 0/1 118 SYNONYMOUS_CODING LOW None 0.26098 0.26100 0.17884 None None None None None None CUL4A|0.220669168|34.36%

DAOA

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 13 rs778294
dbSNP Clinvar
106142235 85.8194 C T PASS 0/1 40 None None None 0.21705 0.21710 0.26249 None None None None None None DAOA|0.00091047|95.98%

DCLK1

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 030_tsvc_variants 13 rs3748308
dbSNP Clinvar
36686138 1084.55 T C PASS 1/1 117 SYNONYMOUS_CODING LOW None 0.22105 0.22100 0.25373 None None None None None None DCLK1|0.773439585|6.47%

DGKH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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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 030_tsvc_variants 13 rs9533031
dbSNP Clinvar
42772717 188.158 G T PASS 0/1 114 SYNONYMOUS_CODING LOW None 0.40176 0.40180 0.48186 None None None None None None DGKH|0.240075062|32.44%
View 030_tsvc_variants 13 rs180870
dbSNP Clinvar
42793479 1270.41 G A PASS 1/1 142 SYNONYMOUS_CODING LOW None 0.62680 0.62680 0.33969 None None None None None None DGKH|0.240075062|32.44%

DIAPH3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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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 030_tsvc_variants 13 rs41293422
dbSNP Clinvar
60240829 203.158 C T PASS 0/1 84 SYNONYMOUS_CODING LOW None 0.04173 0.04173 0.05261 None None None None None None DIAPH3|0.799618501|5.85%
View 030_tsvc_variants 13 rs36084898
dbSNP Clinvar
60566644 187.663 T C PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.07428 0.07428 0.06679 0.40 0.99 None None None None None None DIAPH3|0.799618501|5.85%

DIS3

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 030_tsvc_variants 13 rs2196979
dbSNP Clinvar
73343039 172.949 C T PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.77017 0.77020 0.25239 None None None None None None DIS3|0.399402083|20.82%
View 030_tsvc_variants 13 rs7332388
dbSNP Clinvar
73349359 465.46 G C PASS 0/1 150 NON_SYNONYMOUS_CODING MODERATE None 0.43271 0.43270 0.49608 0.51 0.00 None None None None None None DIS3|0.399402083|20.82%

DLEU7

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 030_tsvc_variants 13 rs898861
dbSNP Clinvar
51417535 54.8939 G A PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.17672 0.17670 0.13009 0.17 0.06 None None None None None None DLEU7|0.018778121|74.82%

DNAJC15

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 030_tsvc_variants 13 rs12015
dbSNP Clinvar
43597865 140.567 A G PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.23582 0.23580 0.29660 0.41 0.00 None None None None None None DNAJC15|0.15998347|41.55%
View 030_tsvc_variants 13 rs3783044
dbSNP Clinvar
43639845 270.691 A C PASS 0/1 146 SYNONYMOUS_CODING LOW None 0.25659 0.25660 0.19671 None None None None None None DNAJC15|0.15998347|41.55%

DOCK9

Omim - GeneCards - NCBI
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RsId
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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 030_tsvc_variants 13 rs12428661
dbSNP Clinvar
99575568 328.824 G A PASS 0/1 213 SYNONYMOUS_CODING LOW None 0.00040 0.16750 0.13827 None None None None None None DOCK9|0.3175759|26.27%

DZIP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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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 030_tsvc_variants 13 rs11070136
dbSNP Clinvar
96239805 119.258 G A PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.26877 0.26880 0.32677 0.20 0.00 None None None None None None DZIP1|0.05772931|60.47%

EDNRB

Omim - GeneCards - NCBI
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RsId
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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 030_tsvc_variants 13 rs5348
dbSNP Clinvar
78477674 1353.45 A G PASS 1/1 144 SYNONYMOUS_CODING LOW None 0.98383 0.98380 0.01507 None None None None None None EDNRB|0.799203329|5.87%

EFNB2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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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 030_tsvc_variants 13 rs7995379
dbSNP Clinvar
107145463 989.313 G C PASS 1/1 104 SYNONYMOUS_CODING LOW None 1.00000 1.00000 0.00054 None None None None None None EFNB2|0.983528846|1.36%

ELF1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 13 rs1056820
dbSNP Clinvar
41515286 916.358 T A PASS 1/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.41354 0.41350 0.47670 0.31 0.02 None None None None None None ELF1|0.222697737|34.11%
View 030_tsvc_variants 13 rs3764056
dbSNP Clinvar
41517985 615.954 A G PASS 1/1 65 SYNONYMOUS_CODING LOW None 0.41354 0.41350 0.47609 None None None None None None ELF1|0.222697737|34.11%
View 030_tsvc_variants 13 rs7799
dbSNP Clinvar
41533052 773.393 T C PASS 1/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.43051 0.43050 0.45687 0.37 0.03 None None None None None None ELF1|0.222697737|34.11%

ENOX1

Omim - GeneCards - NCBI
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RsId
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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 030_tsvc_variants 13 rs703207
dbSNP Clinvar
43788158 334.339 G A PASS 0/1 95 SYNONYMOUS_CODING LOW None 0.73163 0.73160 0.18445 None None None None None None ENOX1|0.787733568|6.17%

EPSTI1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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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 030_tsvc_variants 13 rs1128105
dbSNP Clinvar
43469157 136.868 G A PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.46026 0.46030 0.34807 None None None None None None EPSTI1|0.022063786|73.13%
View 030_tsvc_variants 13 rs1044856
dbSNP Clinvar
43462422 396.56 A T PASS 0/1 165 NON_SYNONYMOUS_CODING MODERATE None 0.15735 0.15730 0.24789 0.00 0.88 None None None None None None EPSTI1|0.022063786|73.13%
View 030_tsvc_variants 13 rs1359184
dbSNP Clinvar
43469211 179.633 G A PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.46985 0.46980 0.36130 None None None None None None EPSTI1|0.022063786|73.13%

ERCC5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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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 030_tsvc_variants 13 rs1047768
dbSNP Clinvar
103504517 158.202 T C PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.49301 0.49300 0.38821 None None None None None None BIVM-ERCC5|0.069043086|57.72%,ERCC5|0.093186458|52.57%
View 030_tsvc_variants 13 rs9514067
dbSNP Clinvar
103527930 703.773 G C PASS 1/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.99720 0.00254 0.75 0.00 None None None None None None ERCC5|0.093186458|52.57%
View 030_tsvc_variants 13 rs17655
dbSNP Clinvar
103528002 178.688 G C PASS 0/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.36142 0.36140 0.30578 0.00 0.82 None None None None None None ERCC5|0.093186458|52.57%

EXOSC8

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 030_tsvc_variants 13 rs117135638
dbSNP Clinvar
37580078 223.027 C A PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.00539 0.00539 0.00654 0.00 0.99 None None None None None None EXOSC8|0.75715394|6.92%

F10

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 030_tsvc_variants 13 rs5960
dbSNP Clinvar
113801737 218.602 C T PASS 0/1 83 SYNONYMOUS_CODING LOW None 0.62320 0.62320 0.26088 None None None None None None F10|0.024231254|72.12%

FAM194B

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 030_tsvc_variants 13 . 46170742 391.542 A G PASS 0/1 67 SYNONYMOUS_CODING LOW None None None None None None None ERICH6B|0.000395053|98.98%
View 030_tsvc_variants 13 . 46170781 69.4233 C T PASS 0/1 9 SYNONYMOUS_CODING LOW None None None None None None None ERICH6B|0.000395053|98.98%
View 030_tsvc_variants 13 rs3014939
dbSNP Clinvar
46170609 575.415 C T PASS 1/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.28135 0.28130 0.40626 0.25 0.93 None None None None None None ERICH6B|0.000395053|98.98%
View 030_tsvc_variants 13 rs28667306
dbSNP Clinvar
46170744 391.571 G A PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None ERICH6B|0.000395053|98.98%
View 030_tsvc_variants 13 rs28548352
dbSNP Clinvar
46170726 552.33 A G PASS 1/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.19 0.01 None None None None None None ERICH6B|0.000395053|98.98%

FARP1

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 030_tsvc_variants 13 rs12261
dbSNP Clinvar
99100547 2111.37 T C PASS 1/1 220 SYNONYMOUS_CODING LOW None 0.50240 0.50240 0.45141 None None None None None None FARP1|0.179785235|39.06%
View 030_tsvc_variants 13 rs11556829
dbSNP Clinvar
99064244 369.777 T C PASS 0/1 148 SYNONYMOUS_CODING LOW None 0.02895 0.02895 0.05790 None None None None None None FARP1|0.179785235|39.06%