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+ Genes 145

+ Genes associated with diseases 38

Genes at Omim

ATP7B, ATP8A2, BRCA2, CARS2, CENPJ, COG6, COL4A1, COL4A2, DAOA, EDNRB, ERCC5, F10, FGF9, FLT3, FREM2, GJA3, GRK1, HTR2A, ING1, IRS2, KL, LPAR6, MIPEP, NALCN, PIBF1, POLR1D, PROZ, RCBTB1, SACS, SGCG, SLC10A2, SLC25A15, SLITRK6, SPG20, SPRY2, SUCLA2, TBC1D4, TNFSF11,
ATP7B Wilson disease, 277900 (3)
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)
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)
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)
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)
LPAR6 Hypotrichosis 8, 278150 (3)
Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150 (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)
PIBF1 Joubert syndrome 33, 617767 (3)
POLR1D Treacher Collins syndrome 2, 613717 (3)
PROZ [Protein Z deficiency], 614024 (3)
RCBTB1 Retinal dystrophy with or without extraocular anomalies, 617175 (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)
TNFSF11 Osteopetrosis, autosomal recessive 2, 259710 (3)

Genes at Clinical Genomics Database

ATP7B, BRCA2, CARS2, CENPJ, COG6, COL4A1, COL4A2, EDNRB, ERCC5, F10, FGF9, FREM2, GJA3, GRK1, HTR2A, IFT88, KL, LPAR6, NALCN, POLR1D, PROZ, RXFP2, SACS, SGCG, SLC10A2, SLC25A15, SLITRK6, SPG20, SPRY2, SUCLA2, TBC1D4, TNFSF11,
ATP7B Wilson disease
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
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
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
LPAR6 Hypotrichosis 8
NALCN Congenital contractures of the limbs and face, hypotonia, and developmental delay
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
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
TNFSF11 Osteopetrosis, autosomal recessive 2

Genes at HGMD

Summary

Number of Variants: 687
Number of Genes: 145

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 fam3 AWK 13 rs899494
dbSNP Clinvar 		95861804 579.13 A G PASS 1/1 63 SYNONYMOUS_CODING LOW None 0.80751 0.80750 0.16977 None None None None None None ABCC4|0.142494523|44.07%
View fam3 AWK 13 rs1751034
dbSNP Clinvar 		95714976 860.08 C T PASS 0/1 86 SYNONYMOUS_CODING LOW None 0.79433 0.79430 0.20345 None None None None None None ABCC4|0.142494523|44.07%
View fam3 AWK 13 rs2274406
dbSNP Clinvar 		95858996 421.68 T C PASS 1/1 42 SYNONYMOUS_CODING LOW None 0.51817 0.51820 0.43911 None None None None None None ABCC4|0.142494523|44.07%
View fam3 AWK 13 rs1189466
dbSNP Clinvar 		95726541 2467.75 A G PASS 1/1 192 SYNONYMOUS_CODING LOW None 0.90355 0.90360 0.05467 None None None None None None ABCC4|0.142494523|44.07%
View fam3 AWK 13 rs1678339
dbSNP Clinvar 		95727780 1890.96 T C PASS 1/1 197 SYNONYMOUS_CODING LOW None 0.88778 0.88780 0.07420 None None None None None None ABCC4|0.142494523|44.07%
View fam3 AWK 13 rs2274405
dbSNP Clinvar 		95858978 423.69 T C PASS 1/1 45 SYNONYMOUS_CODING LOW None 0.62600 0.62600 0.33592 None None None None None None ABCC4|0.142494523|44.07%

AKAP11
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 fam3 AWK 13 rs17521586
dbSNP Clinvar 		42882620 385.46 C T PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.11422 0.11420 0.12333 None None None None None None AKAP11|0.091513313|52.94%
View fam3 AWK 13 rs2273951
dbSNP Clinvar 		42872779 586.32 C T PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.11382 0.11380 0.12317 None None None None None None AKAP11|0.091513313|52.94%
View fam3 AWK 13 rs2273952
dbSNP Clinvar 		42872719 577.02 A G PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.11382 0.11380 0.12319 None None None None None None AKAP11|0.091513313|52.94%

ARL11
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 fam3 AWK 13 rs147120792
dbSNP Clinvar 		50204975 375.52 C T PASS 0/1 193 NON_SYNONYMOUS_CODING MODERATE None 0.01837 0.01837 0.02384 0.02 0.54 None None None None None None ARL11|0.011853992|79.33%
View fam3 AWK 13 rs3803185
dbSNP Clinvar 		50205025 733.29 T C PASS 0/1 267 NON_SYNONYMOUS_CODING MODERATE None 0.25379 0.25380 0.38925 0.52 0.00 None None None None None None ARL11|0.011853992|79.33%

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 fam3 AWK 13 rs2071490
dbSNP Clinvar 		25265139 349.35 T C PASS 0/1 251 SYNONYMOUS_CODING LOW None 0.29553 0.29550 0.20437 None None None None None None ATP12A|0.195110246|37.26%
View fam3 AWK 13 rs7981616
dbSNP Clinvar 		25265103 343.75 A G PASS 0/1 254 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.29533 0.29530 0.20437 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 fam3 AWK 13 rs9285616
dbSNP Clinvar 		114312354 387.81 T G PASS 1/1 36 SYNONYMOUS_CODING LOW None 1.00000 1.00000 0.00008 None None None None None None ATP4B|0.020415795|73.96%
View fam3 AWK 13 rs17852631
dbSNP Clinvar 		114303764 299.97 C T PASS 0/1 110 SYNONYMOUS_CODING LOW None 0.20467 0.20470 0.17115 None None None None None None ATP4B|0.020415795|73.96%

ATP7B
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 fam3 AWK 13 rs1801244
dbSNP Clinvar 		52544805 365.64 C G PASS 0/1 128 NON_SYNONYMOUS_CODING MODERATE None 0.37700 0.37700 0.40522 0.45 0.00 None None None None None None ATP7B|0.044059753|64.5%
View fam3 AWK 13 rs1061472
dbSNP Clinvar 		52524488 185.32 T C PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.50240 0.50240 0.44783 0.07 0.22 None None None None None None ATP7B|0.044059753|64.5%
View fam3 AWK 13 rs1801243
dbSNP Clinvar 		52548140 58.85 A C PASS 0/1 15 NON_SYNONYMOUS_CODING MODERATE None 0.37620 0.37620 0.40122 0.79 0.01 None None None None None None ATP7B|0.044059753|64.5%
View fam3 AWK 13 rs732774
dbSNP Clinvar 		52523808 219.39 C T PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.53095 0.53100 0.42835 1.00 0.00 None None None None None None ATP7B|0.044059753|64.5%
View fam3 AWK 13 rs1801249
dbSNP Clinvar 		52515354 214.51 A G PASS 0/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.54054 0.54050 0.42244 1.00 0.00 None None None None None None ATP7B|0.044059753|64.5%

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 fam3 AWK 13 rs6491066
dbSNP Clinvar 		26148966 722.24 C T PASS 1/1 76 SYNONYMOUS_CODING LOW None 0.53634 0.53630 0.29168 None None None None None None ATP8A2|0.338221309|24.95%
View fam3 AWK 13 rs7317185
dbSNP Clinvar 		26043182 241.21 A C PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.20407 0.20410 0.24120 None None None None None None ATP8A2|0.338221309|24.95%
View fam3 AWK 13 rs6491088
dbSNP Clinvar 		26273385 1158.43 G C PASS 1/1 113 SYNONYMOUS_CODING LOW None 0.98742 0.98740 0.01018 None None None None None None ATP8A2|0.338221309|24.95%
View fam3 AWK 13 rs7335858
dbSNP Clinvar 		26273403 403.39 C A PASS 0/1 113 SYNONYMOUS_CODING LOW None 0.07288 0.07288 0.10798 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 fam3 AWK 13 rs4943266
dbSNP Clinvar 		31821992 596.58 T C PASS 1/1 67 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.97544 0.97540 0.03601 None None None None None None B3GALTL|0.110722838|49.06%
View fam3 AWK 13 rs1041073
dbSNP Clinvar 		31891746 3016.84 G A PASS 1/1 322 NON_SYNONYMOUS_CODING MODERATE None 0.66673 0.66670 0.34461 0.03 0.19 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 fam3 AWK 13 rs206075
dbSNP Clinvar 		32913055 327.65 A G PASS 1/1 35 SYNONYMOUS_CODING LOW None 0.97404 0.97400 0.02423 None None None None None None BRCA2|0.561492787|13.3%
View fam3 AWK 13 rs1799955
dbSNP Clinvar 		32929232 1057.33 A G PASS 1/1 93 SYNONYMOUS_CODING LOW None 0.23263 0.23260 0.21136 None None None None None None BRCA2|0.561492787|13.3%
View fam3 AWK 13 rs206076
dbSNP Clinvar 		32915005 519.79 G C PASS 1/1 55 SYNONYMOUS_CODING LOW None 0.00040 0.97360 0.02453 None None None None None None BRCA2|0.561492787|13.3%
View fam3 AWK 13 rs169547
dbSNP Clinvar 		32929387 670.27 T C PASS 1/1 55 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 fam3 AWK 13 rs1801406
dbSNP Clinvar 		32911888 1576.42 A G PASS 1/1 135 SYNONYMOUS_CODING LOW None 0.26677 0.26680 0.27984 None None None None None None BRCA2|0.561492787|13.3%

C1QTNF9
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 fam3 AWK 13 rs4589405
dbSNP Clinvar 		24895805 625.75 G A PASS 0/1 268 NON_SYNONYMOUS_CODING MODERATE None 0.07927 0.07927 0.08973 0.02 0.94 None None None None None None C1QTNF9|0.007159011|83.32%

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 fam3 AWK 13 rs3864970
dbSNP Clinvar 		24465717 859.77 A G PASS 1/1 90 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 fam3 AWK 13 rs3864971
dbSNP Clinvar 		24465743 847.55 A G PASS 1/1 88 SYNONYMOUS_CODING LOW None 0.98383 0.98380 0.01517 None None None None None None C1QTNF9B|0.013563559|78.16%

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 fam3 AWK 13 rs41275126
dbSNP Clinvar 		111290630 131.76 T C PASS 0/1 163 NON_SYNONYMOUS_CODING MODERATE None 0.08546 0.08546 0.11133 0.07 0.01 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 fam3 AWK 13 rs4628819
dbSNP Clinvar 		111319754 1057.71 T C PASS 1/1 118 SYNONYMOUS_CODING LOW None 0.76238 0.76240 0.22520 None None None None None None CARS2|0.018441874|74.99%
View fam3 AWK 13 rs1043886
dbSNP Clinvar 		111293915 499.03 T G PASS 0/1 168 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 fam3 AWK 13 rs436462
dbSNP Clinvar 		111298392 218.93 A G PASS 0/1 135 SYNONYMOUS_CODING LOW None 0.47424 0.47420 0.41281 None None None None None None CARS2|0.018441874|74.99%
View fam3 AWK 13 rs2304767
dbSNP Clinvar 		111340342 187.47 G A PASS 0/1 118 SYNONYMOUS_CODING LOW None 0.14796 0.14800 0.24450 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 fam3 AWK 13 rs9546785
dbSNP Clinvar 		36801415 1318.92 C T PASS 1/1 144 NON_SYNONYMOUS_CODING MODERATE None 0.37760 0.37760 0.41196 0.01 0.00 None None None None None None SOHLH2|0.025487064|71.56%,CCDC169-SOHLH2|0.024786398|71.88%,CCDC169|0.01125788|79.84%
View fam3 AWK 13 rs1998800
dbSNP Clinvar 		36857639 193.89 T C PASS 0/1 75 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%

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 fam3 AWK 13 rs9546897
dbSNP Clinvar 		36828237 200.14 T C PASS 1/1 15 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%
View fam3 AWK 13 rs2296968
dbSNP Clinvar 		36744910 151.9 C T PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.26298 0.26300 0.18115 1.00 0.00 None None None None None None SOHLH2|0.025487064|71.56%,CCDC169-SOHLH2|0.024786398|71.88%

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 fam3 AWK 13 rs1054515
dbSNP Clinvar 		52440130 58.86 A G PASS 0/1 22 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%

CDX2
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 fam3 AWK 13 rs1805107
dbSNP Clinvar 		28537317 435.34 G A PASS 1/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.72564 0.72560 0.29187 0.08 0.00 None None None None None None CDX2|0.819268423|5.35%

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 fam3 AWK 13 rs3742165
dbSNP Clinvar 		25466955 301.79 T C PASS 0/1 195 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 fam3 AWK 13 rs7335867
dbSNP Clinvar 		53035925 2207.2 A G PASS 1/1 229 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 fam3 AWK 13 rs7337054
dbSNP Clinvar 		53035783 2165.83 T C PASS 1/1 232 SYNONYMOUS_CODING LOW None 0.99740 0.99740 0.00292 None None None None None None CKAP2|0.618697736|11.13%

CLYBL
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 fam3 AWK 13 rs3783185
dbSNP Clinvar 		100518580 278.25 A G PASS 0/1 136 NON_SYNONYMOUS_CODING MODERATE None 0.82508 0.82510 0.23697 0.06 0.34 None None None None None None CLYBL|0.43420364|18.99%

COG3
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 fam3 AWK 13 rs2985959
dbSNP Clinvar 		46067593 195.71 G A PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.36042 0.36040 0.36852 None None None None None None COG3|0.283875936|28.81%
View fam3 AWK 13 rs3014902
dbSNP Clinvar 		46108853 1633.04 T C PASS 1/1 173 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 fam3 AWK 13 rs2985989
dbSNP Clinvar 		46108854 1588.86 G A PASS 1/1 173 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%
View fam3 AWK 13 rs3014960
dbSNP Clinvar 		46077381 747.38 G A PASS 1/1 44 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 fam3 AWK 13 rs2274285
dbSNP Clinvar 		46103935 663.37 A G PASS 0/1 120 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%

COG6
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 fam3 AWK 13 rs3812882
dbSNP Clinvar 		40229891 89.09 G A PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.48443 0.48440 0.43809 0.09 0.02 None None None None None None COG6|0.303873453|27.36%
View fam3 AWK 13 rs3812883
dbSNP Clinvar 		40229957 108.79 T A PASS 0/1 56 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%

COL4A1
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 fam3 AWK 13 rs532625
dbSNP Clinvar 		110864225 762.78 A T PASS 1/1 80 SYNONYMOUS_CODING LOW None 0.47284 0.47280 0.43957 None None None None None None COL4A1|0.224151486|33.94%
View fam3 AWK 13 rs536174
dbSNP Clinvar 		110839550 2163.02 T G PASS 1/1 226 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None COL4A1|0.224151486|33.94%
View fam3 AWK 13 rs9515185
dbSNP Clinvar 		110959356 627.69 C G PASS 1/1 66 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 fam3 AWK 13 rs9583500
dbSNP Clinvar 		111121620 168.36 C T PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.19090 0.19090 0.23106 0.03 None None None None None None COL4A2|0.044971251|64.22%
View fam3 AWK 13 rs4238272
dbSNP Clinvar 		111077197 1994.96 G A PASS 1/1 226 SYNONYMOUS_CODING LOW None 0.94269 0.94270 0.06729 None None None None None None COL4A2|0.044971251|64.22%
View fam3 AWK 13 rs117412802
dbSNP Clinvar 		111143601 429.48 A G PASS 0/1 139 NON_SYNONYMOUS_CODING MODERATE None 0.00579 0.00579 0.00978 0.73 None None None None None None COL4A2|0.044971251|64.22%
View fam3 AWK 13 rs438758
dbSNP Clinvar 		111155773 2257.25 T C PASS 1/1 240 SYNONYMOUS_CODING LOW None 0.98023 0.98020 0.01286 None None None None None None COL4A2|0.044971251|64.22%
View fam3 AWK 13 rs439831
dbSNP Clinvar 		111154058 1472.45 T A PASS 1/1 132 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05156 None None None None None None COL4A2|0.044971251|64.22%
View fam3 AWK 13 rs4103
dbSNP Clinvar 		111098226 364.07 C T PASS 0/1 191 SYNONYMOUS_CODING LOW None 0.48283 0.48280 0.48987 None None None None None None COL4A2|0.044971251|64.22%
View fam3 AWK 13 rs7990214
dbSNP Clinvar 		111111173 1131.62 G A PASS 0/1 105 SYNONYMOUS_CODING LOW None 0.49141 0.49140 0.37904 None None None None None None COL4A2|0.044971251|64.22%
View fam3 AWK 13 rs4771683
dbSNP Clinvar 		111156499 603.63 C T PASS 1/1 64 SYNONYMOUS_CODING LOW None 0.93590 0.93590 0.05438 None None None None None None COL4A2|0.044971251|64.22%
View fam3 AWK 13 rs7990383
dbSNP Clinvar 		111111235 1229.56 G A PASS 0/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.50919 0.50920 0.36542 0.25 None None None None None None COL4A2|0.044971251|64.22%
View fam3 AWK 13 rs409858
dbSNP Clinvar 		111154061 1472.71 T C PASS 1/1 132 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05167 None None None None None None COL4A2|0.044971251|64.22%
View fam3 AWK 13 rs445348
dbSNP Clinvar 		111158874 1597.93 A G PASS 1/1 167 SYNONYMOUS_CODING LOW None 0.75200 0.75200 0.12908 None None None None None None COL4A2|0.044971251|64.22%

CPB2
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 fam3 AWK 13 rs1926447
dbSNP Clinvar 		46629944 416.25 A G PASS 0/1 36 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 fam3 AWK 13 rs2296642
dbSNP Clinvar 		46656669 1321.08 A G PASS 1/1 113 SYNONYMOUS_CODING LOW None 0.79872 0.79870 0.22044 None None None None None None CPB2|0.106282021|49.92%
View fam3 AWK 13 rs7337140
dbSNP Clinvar 		46641481 707.71 T C PASS 1/1 61 SYNONYMOUS_CODING LOW None 0.80671 0.80670 0.21529 None None None None None None CPB2|0.106282021|49.92%
View fam3 AWK 13 rs2277440
dbSNP Clinvar 		46638826 1346.01 G A PASS 1/1 141 SYNONYMOUS_CODING LOW None 0.14337 0.14340 0.08381 None None None None None None CPB2|0.106282021|49.92%

CRYL1
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 fam3 AWK 13 rs14236
dbSNP Clinvar 		21063524 311.15 A G PASS 0/1 177 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.27037 0.27040 0.29022 None None None None None None CRYL1|0.031917441|68.66%

CSNK1A1L
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 fam3 AWK 13 rs17773251
dbSNP Clinvar 		37678884 611.3 C G PASS 0/1 219 NON_SYNONYMOUS_CODING MODERATE None 0.07448 0.07448 0.08158 0.02 0.60 None None None None None None CSNK1A1L|0.002850099|88.93%
View fam3 AWK 13 rs9576175
dbSNP Clinvar 		37679268 1890.95 G T PASS 0/1 196 NON_SYNONYMOUS_CODING MODERATE None 0.59685 0.59680 0.48639 1.00 0.00 None None None None None None CSNK1A1L|0.002850099|88.93%

DAOA
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 fam3 AWK 13 rs2391191
dbSNP Clinvar 		106119446 253.64 G A PASS 0/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.36182 0.36180 0.29371 0.00 0.14 None None None None None None DAOA|0.00091047|95.98%

DCLK1
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 fam3 AWK 13 rs2322807
dbSNP Clinvar 		36385031 232.68 G T PASS 0/1 157 SYNONYMOUS_CODING LOW None 0.29792 0.29790 0.28518 None None None None None None DCLK1|0.773439585|6.47%
View fam3 AWK 13 rs35734430
dbSNP Clinvar 		36401838 190.11 A G PASS 0/1 103 SYNONYMOUS_CODING LOW None 0.02436 0.02436 0.04498 None None None None None None DCLK1|0.773439585|6.47%

DGKH
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 fam3 AWK 13 rs9533031
dbSNP Clinvar 		42772717 1120.96 G T PASS 0/1 137 SYNONYMOUS_CODING LOW None 0.40176 0.40180 0.48186 None None None None None None DGKH|0.240075062|32.44%
View fam3 AWK 13 rs180870
dbSNP Clinvar 		42793479 595.7 G A PASS 0/1 105 SYNONYMOUS_CODING LOW None 0.62680 0.62680 0.33969 None None None None None None DGKH|0.240075062|32.44%

DIS3
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 fam3 AWK 13 rs2196979
dbSNP Clinvar 		73343039 151.61 C T PASS 0/1 81 SYNONYMOUS_CODING LOW None 0.77017 0.77020 0.25239 None None None None None None DIS3|0.399402083|20.82%
View fam3 AWK 13 rs7332388
dbSNP Clinvar 		73349359 271.31 G C PASS 0/1 123 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%

DNAJC15
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 fam3 AWK 13 rs3783044
dbSNP Clinvar 		43639845 1193.2 A C PASS 1/1 125 SYNONYMOUS_CODING LOW None 0.25659 0.25660 0.19671 None None None None None None DNAJC15|0.15998347|41.55%

DZIP1
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 fam3 AWK 13 rs11070136
dbSNP Clinvar 		96239805 866.46 G A PASS 1/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.26877 0.26880 0.32677 0.20 0.04 None None None None None None DZIP1|0.05772931|60.47%

EDNRB
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 fam3 AWK 13 rs5348
dbSNP Clinvar 		78477674 1634.61 A G PASS 1/1 150 SYNONYMOUS_CODING LOW None 0.98383 0.98380 0.01507 None None None None None None EDNRB|0.799203329|5.87%
View fam3 AWK 13 rs5351
dbSNP Clinvar 		78475313 107.73 T C PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.54473 0.54470 0.40257 None None None None None None EDNRB|0.799203329|5.87%

EFNB2
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 fam3 AWK 13 rs7995379
dbSNP Clinvar 		107145463 1263.2 G C PASS 1/1 132 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 fam3 AWK 13 rs1056820
dbSNP Clinvar 		41515286 1073.62 T A PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.41354 0.41350 0.47670 0.31 0.01 None None None None None None ELF1|0.222697737|34.11%
View fam3 AWK 13 rs7799
dbSNP Clinvar 		41533052 283.83 T C PASS 0/1 118 NON_SYNONYMOUS_CODING MODERATE None 0.43051 0.43050 0.45687 0.37 0.01 None None None None None None ELF1|0.222697737|34.11%
View fam3 AWK 13 rs3764056
dbSNP Clinvar 		41517985 664.82 A G PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.41354 0.41350 0.47609 None None None None None None ELF1|0.222697737|34.11%

ENOX1
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 fam3 AWK 13 rs703207
dbSNP Clinvar 		43788158 1257.11 G A PASS 1/1 132 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
 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 fam3 AWK 13 rs1044856
dbSNP Clinvar 		43462422 1483.05 A T PASS 0/1 141 NON_SYNONYMOUS_CODING MODERATE None 0.15735 0.15730 0.24789 0.00 0.93 None None None None None None EPSTI1|0.022063786|73.13%
View fam3 AWK 13 rs1128105
dbSNP Clinvar 		43469157 307.48 G A PASS 0/1 136 SYNONYMOUS_CODING LOW None 0.46026 0.46030 0.34807 None None None None None None EPSTI1|0.022063786|73.13%
View fam3 AWK 13 rs1359184
dbSNP Clinvar 		43469211 295.02 G A PASS 0/1 124 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
 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 fam3 AWK 13 rs9514067
dbSNP Clinvar 		103527930 853.2 G C PASS 1/1 88 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%

F10
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 fam3 AWK 13 rs5960
dbSNP Clinvar 		113801737 866.43 C T PASS 1/1 90 SYNONYMOUS_CODING LOW None 0.62320 0.62320 0.26088 None None None None None None F10|0.024231254|72.12%

FAM124A
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 fam3 AWK 13 rs146836694
dbSNP Clinvar 		51825750 479.24 G A PASS 0/1 154 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.00100 0.00209 0.00 1.00 None None None None None None FAM124A|0.016479517|76.18%

FAM155A
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 fam3 AWK 13 . 108518594 234.43 G A PASS 0/1 71 SYNONYMOUS_CODING LOW None None None None None None None FAM155A|0.381864835|21.92%