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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

ALG11, ATP8A2, BRCA2, CARS2, CHAMP1, COG6, COL4A1, COL4A2, DAOA, DIAPH3, EDNRB, ERCC5, F10, F7, FGF9, FLT3, FREM2, GJA3, GPC6, GRK1, HTR2A, ING1, IRS2, KL, LIG4, MIPEP, NALCN, PCCA, POLR1D, PROZ, RCBTB1, RNF6, SACS, SGCG, SLC10A2, SLC25A15, SLITRK6, SPG20, SPRY2, SUCLA2, TBC1D4, TNFSF11, UFM1,
ALG11 Congenital disorder of glycosylation, type Ip, 613661 (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)
CHAMP1 Mental retardation, autosomal dominant 40, 616579 (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)
F10 Factor X deficiency, 227600 (3)
F7 Factor VII deficiency, 227500 (3)
{Myocardial infarction, decreased susceptibility to}, 608446 (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)
GPC6 Omodysplasia 1, 258315 (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)
LIG4 {Multiple myeloma, resistance to}, 254500 (3)
LIG4 syndrome, 606593 (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)
POLR1D Treacher Collins syndrome 2, 613717 (3)
PROZ [Protein Z deficiency], 614024 (3)
RCBTB1 Retinal dystrophy with or without extraocular anomalies, 617175 (3)
RNF6 Esophageal carcinoma, somatic, 133239 (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)
UFM1 Leukodystrophy, hypomyelinating, 14, 617899 (3)

Genes at Clinical Genomics Database

ALG11, BRCA2, CARS2, CHAMP1, COG6, COL4A1, COL4A2, EDNRB, ERCC5, F10, F7, FGF9, FREM2, GJA3, GPC6, GRK1, HTR2A, IFT88, KL, LIG4, NALCN, PCCA, POLR1D, PROZ, RXFP2, SACS, SGCG, SLC10A2, SLC25A15, SLITRK6, SPG20, SPRY2, SUCLA2, TBC1D4, TNFSF11,
ALG11 Congenital disorder of glycosylation, type Ip
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
CHAMP1 Mental retardation, autosomal dominant 40
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
F7 Factor VII deficiency
FGF9 Multiple synostoses syndrome 3
FREM2 Fraser syndrome
GJA3 Cataract 14, multiple types
GPC6 Omodysplasia 1
GRK1 Oguchi disease 2
HTR2A Major depressive disorder, response to citalopram therapy in
Clozapine, response to
IFT88 Ciliopathy, IFT88-related
KL Tumoral calcinosis, hyperphosphatemic
LIG4 LIG4 syndrome
Severe combined immunodeficiency with sensitivity to ionizing radiation
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
TNFSF11 Osteopetrosis, autosomal recessive 2

Genes at HGMD

Summary

Number of Variants: 4595
Number of Genes: 184

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 1528098 13 rs899494
dbSNP Clinvar
95861804 999.0 A G . 0/1 90 SYNONYMOUS_CODING LOW None 0.80751 0.80750 0.16977 None None None None None None ABCC4|0.142494523|44.07%
View 1528098 13 rs1678339
dbSNP Clinvar
95727780 999.0 T C . 1/1 235 SYNONYMOUS_CODING LOW None 0.88778 0.88780 0.07420 None None None None None None ABCC4|0.142494523|44.07%
View 1528098 13 rs2274405
dbSNP Clinvar
95858978 999.0 T C . 0/1 145 SYNONYMOUS_CODING LOW None 0.62600 0.62600 0.33592 None None None None None None ABCC4|0.142494523|44.07%
View 1528098 13 rs1751034
dbSNP Clinvar
95714976 999.0 C T . 1/1 120 SYNONYMOUS_CODING LOW None 0.79433 0.79430 0.20345 None None None None None None ABCC4|0.142494523|44.07%
View 1528098 13 rs1189466
dbSNP Clinvar
95726541 999.0 A G . 1/1 145 SYNONYMOUS_CODING LOW None 0.90355 0.90360 0.05467 None None None None None None ABCC4|0.142494523|44.07%
View 1528098 13 rs2274406
dbSNP Clinvar
95858996 999.0 T C . 0/1 132 SYNONYMOUS_CODING LOW None 0.51817 0.51820 0.43911 None None None None None None ABCC4|0.142494523|44.07%

ADPRHL1

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 1528098 13 rs139075628
dbSNP Clinvar
114088074 999.0 G A . 0/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.01378 0.01378 0.01818 0.00 0.91 None None None None None None ADPRHL1|0.030161961|69.33%

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 1528098 13 rs41288311
dbSNP Clinvar
42876290 999.0 A C . 0/1 261 SYNONYMOUS_CODING LOW None 0.07129 0.07129 0.12971 None None None None None None AKAP11|0.091513313|52.94%

AL136218.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1528098 13 rs3764090
dbSNP Clinvar
50008301 999.0 A G . 0/1 217 SYNONYMOUS_CODING LOW None 0.83167 0.83170 None None None None None None CAB39L|0.342406603|24.66%

AL355390.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1528098 13 rs61965143
dbSNP Clinvar
74988872 999.0 C T . 1/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.01997 0.01997 0.00 None None None None None None None
View 1528098 13 rs61965144
dbSNP Clinvar
74988961 999.0 G A . 1/1 118 SYNONYMOUS_CODING LOW None 0.03135 0.03135 None None None None None None None

AL445989.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1528098 13 . 64320959 999.0 CC... CC... . 1/1 8 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None None

ALG11

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 1528098 13 rs201560109
dbSNP Clinvar
52586564 999.0 G A . 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.79 0.00 None None None None None None ALG11|0.150634344|42.89%

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 1528098 13 rs3803185
dbSNP Clinvar
50205025 999.0 T C . 0/1 168 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%

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 1528098 13 rs9577174
dbSNP Clinvar
113534907 999.0 T C . 1/1 119 None None None 0.39018 0.39020 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 1528098 13 rs2289901
dbSNP Clinvar
25272870 999.0 C T . 0/1 68 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 1528098 13 rs9285616
dbSNP Clinvar
114312354 999.0 T G . 1/1 26 SYNONYMOUS_CODING LOW None 1.00000 1.00000 0.00008 None None None None None None ATP4B|0.020415795|73.96%
View 1528098 13 rs17852631
dbSNP Clinvar
114303764 999.0 C T . 0/1 13 SYNONYMOUS_CODING LOW None 0.20467 0.20470 0.17115 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 1528098 13 rs6491088
dbSNP Clinvar
26273385 999.0 G C . 1/1 134 SYNONYMOUS_CODING LOW None 0.98742 0.98740 0.01018 None None None None None None ATP8A2|0.338221309|24.95%
View 1528098 13 rs7335858
dbSNP Clinvar
26273403 999.0 C A . 0/1 130 SYNONYMOUS_CODING LOW None 0.07288 0.07288 0.10798 None None None None None None ATP8A2|0.338221309|24.95%
View 1528098 13 rs7317185
dbSNP Clinvar
26043182 999.0 A C . 0/1 339 SYNONYMOUS_CODING LOW None 0.20407 0.20410 0.24120 None None None None None None ATP8A2|0.338221309|24.95%
View 1528098 13 rs6491066
dbSNP Clinvar
26148966 999.0 C T . 0/1 86 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 1528098 13 rs4943266
dbSNP Clinvar
31821992 999.0 T C . 1/1 78 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 1528098 13 rs1041073
dbSNP Clinvar
31891746 999.0 G A . 1/1 120 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%

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 1528098 13 rs1799955
dbSNP Clinvar
32929232 999.0 A G . 0/1 114 SYNONYMOUS_CODING LOW None 0.23263 0.23260 0.21136 None None None None None None BRCA2|0.561492787|13.3%
View 1528098 13 rs150600452
dbSNP Clinvar
32949533 999.0 A G . 0/1 64 None None None 0.00260 0.00260 0.00 None None None None None None BRCA2|0.561492787|13.3%
View 1528098 13 rs206076
dbSNP Clinvar
32915005 999.0 G C . 1/1 101 SYNONYMOUS_CODING LOW None 0.00040 0.97360 0.02453 None None None None None None BRCA2|0.561492787|13.3%
View 1528098 13 rs206075
dbSNP Clinvar
32913055 999.0 A G . 1/1 126 SYNONYMOUS_CODING LOW None 0.97404 0.97400 0.02423 None None None None None None BRCA2|0.561492787|13.3%
View 1528098 13 rs1801406
dbSNP Clinvar
32911888 999.0 A G . 0/1 174 SYNONYMOUS_CODING LOW None 0.26677 0.26680 0.27984 None None None None None None BRCA2|0.561492787|13.3%
View 1528098 13 rs144848
dbSNP Clinvar
32906729 999.0 A C . 0/1 219 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 1528098 13 rs169547
dbSNP Clinvar
32929387 999.0 T C . 1/1 66 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%

C13orf45

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 1528098 13 rs9600567
dbSNP Clinvar
76445316 999.0 C T . 0/1 56 SYNONYMOUS_CODING LOW None 0.47085 0.47080 None None None None None None LMO7DN|0.000900221|96.02%

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 1528098 13 rs3751357
dbSNP Clinvar
24895559 999.0 A G . 1/1 341 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None C1QTNF9|0.007159011|83.32%
View 1528098 13 rs77554188
dbSNP Clinvar
24895745 110.0 A G . 0/1 353 NON_SYNONYMOUS_CODING MODERATE None 0.12087 0.48 0.05 None None None None None None C1QTNF9|0.007159011|83.32%
View 1528098 13 rs3751355
dbSNP Clinvar
24895393 209.0 A G . 1/1 28 SYNONYMOUS_CODING LOW None None None None None None None C1QTNF9|0.007159011|83.32%
View 1528098 13 rs78083136
dbSNP Clinvar
24895631 75.2 T A . 0/1 466 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None C1QTNF9|0.007159011|83.32%
View 1528098 13 rs3751354
dbSNP Clinvar
24895240 285.0 G A . 1/1 32 SYNONYMOUS_CODING LOW None 0.43331 0.43330 None None None None None None C1QTNF9|0.007159011|83.32%
View 1528098 13 rs2862239
dbSNP Clinvar
24895684 999.0 A G . 1/1 414 SYNONYMOUS_CODING LOW None 0.89577 0.89580 0.12392 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 1528098 13 rs35159134
dbSNP Clinvar
24471048 999.0 C T . 0/1 124 SYNONYMOUS_CODING LOW None 0.21046 0.21050 None None None None None None C1QTNF9B|0.013563559|78.16%
View 1528098 13 rs4067961
dbSNP Clinvar
24468329 999.0 A G . 1/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.35523 0.35520 0.12710 0.36 0.00 None None None None None None C1QTNF9B|0.013563559|78.16%
View 1528098 13 rs3864970
dbSNP Clinvar
24465717 999.0 A G . 1/1 138 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 1528098 13 rs66990269
dbSNP Clinvar
24471039 999.0 T G . 1/1 124 SYNONYMOUS_CODING LOW None None None None None None None C1QTNF9B|0.013563559|78.16%
View 1528098 13 rs3864971
dbSNP Clinvar
24465743 999.0 A G . 1/1 138 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 1528098 13 rs8002858
dbSNP Clinvar
49951193 999.0 T C . 0/1 103 SYNONYMOUS_CODING LOW None 0.49581 0.49580 0.41865 None None None None None None CAB39L|0.342406603|24.66%
View 1528098 13 rs8002829
dbSNP Clinvar
49951142 999.0 T C . 0/1 92 SYNONYMOUS_CODING LOW None 0.49581 0.49580 0.41858 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 1528098 13 rs9521879
dbSNP Clinvar
111286939 999.0 C T . 0/1 132 SYNONYMOUS_CODING LOW None 0.00679 0.00679 0.01492 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 1528098 13 rs4628819
dbSNP Clinvar
111319754 999.0 T C . 1/1 148 SYNONYMOUS_CODING LOW None 0.76238 0.76240 0.22520 None None None None None None CARS2|0.018441874|74.99%
View 1528098 13 rs2304767
dbSNP Clinvar
111340342 999.0 G A . 0/1 25 SYNONYMOUS_CODING LOW None 0.14796 0.14800 0.24450 None None None None None None CARS2|0.018441874|74.99%
View 1528098 13 rs146773721
dbSNP Clinvar
111335406 99.2 C T . 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.01238 0.01238 0.01369 0.38 0.02 None None None None None None CARS2|0.018441874|74.99%

CCDC168

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 1528098 13 rs6491707
dbSNP Clinvar
103385015 999.0 A G . 1/1 183 NON_SYNONYMOUS_CODING MODERATE None 0.99581 0.99580 0.00285 0.64 0.00 None None None None None None CCDC168|0.000980876|95.56%
View 1528098 13 rs9300756
dbSNP Clinvar
103384824 999.0 G A . 1/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.58666 0.58670 0.45881 0.17 0.00 None None None None None None CCDC168|0.000980876|95.56%
View 1528098 13 rs7983175
dbSNP Clinvar
103385798 999.0 T C . 1/1 160 NON_SYNONYMOUS_CODING MODERATE None 0.97284 0.97280 0.02562 1.00 0.00 None None None None None None CCDC168|0.000980876|95.56%
View 1528098 13 rs7335290
dbSNP Clinvar
103385299 999.0 A C . 1/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.97284 0.97280 0.02584 0.99 0.00 None None None None None None CCDC168|0.000980876|95.56%
View 1528098 13 rs7982465
dbSNP Clinvar
103386116 999.0 C G . 1/1 254 NON_SYNONYMOUS_CODING MODERATE None 0.97125 0.97120 0.02650 0.11 0.03 None None None None None None CCDC168|0.000980876|95.56%
View 1528098 13 rs7982670
dbSNP Clinvar
103386283 999.0 A G . 1/1 219 SYNONYMOUS_CODING LOW None 0.97145 0.97140 0.02584 None None None None None None CCDC168|0.000980876|95.56%
View 1528098 13 rs9300758
dbSNP Clinvar
103388220 999.0 A G . 1/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.99101 0.99100 0.00854 0.09 0.00 None None None None None None CCDC168|0.000980876|95.56%
View 1528098 13 rs9518825
dbSNP Clinvar
103388370 999.0 C T . 0/1 122 NON_SYNONYMOUS_CODING MODERATE None 0.23403 0.23400 0.17565 0.21 0.95 None None None None None None CCDC168|0.000980876|95.56%

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 1528098 13 rs1998800
dbSNP Clinvar
36857639 999.0 T C . 0/1 54 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 1528098 13 rs9546785
dbSNP Clinvar
36801415 999.0 C T . 1/1 70 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 1528098 13 rs9546897
dbSNP Clinvar
36828237 999.0 T C . 1/1 31 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 1528098 13 rs2296968
dbSNP Clinvar
36744910 999.0 C T . 0/1 183 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 1528098 13 rs1054515
dbSNP Clinvar
52440130 999.0 A G . 1/1 93 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%

CDADC1

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 1528098 13 rs6561512
dbSNP Clinvar
49840024 999.0 A G . 1/1 89 None None None 0.95387 0.95390 0.15 0.00 None None None None None None CDADC1|0.301878995|27.51%

CDC16

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 1528098 13 rs2296970
dbSNP Clinvar
115004935 999.0 T C . 0/1 92 SYNONYMOUS_CODING LOW None 0.44169 0.44170 0.43934 None None None None None None CDC16|0.574269029|12.84%
View 1528098 13 rs2296971
dbSNP Clinvar
115004914 999.0 C T . 0/1 119 SYNONYMOUS_CODING LOW None 0.44429 0.44430 0.44210 None None None None None None CDC16|0.574269029|12.84%
View 1528098 13 rs8002514
dbSNP Clinvar
115002305 999.0 G A . 0/1 82 SYNONYMOUS_CODING LOW None 0.34165 0.34170 0.32816 None None None None None None CDC16|0.574269029|12.84%
View 1528098 13 rs8809
dbSNP Clinvar
115030714 999.0 T C . 0/1 123 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.36941 0.36940 0.35422 None None None None None None CDC16|0.574269029|12.84%

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 1528098 13 rs1805107
dbSNP Clinvar
28537317 999.0 G A . 1/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.72564 0.72560 0.29187 0.08 0.08 None None None None None None CDX2|0.819268423|5.35%

CHAMP1

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 1528098 13 rs3813133
dbSNP Clinvar
115090193 999.0 G A . 0/1 228 SYNONYMOUS_CODING LOW None 0.12041 0.12040 0.08327 None None None None None None CHAMP1|0.091768231|52.86%
View 1528098 13 rs3813131
dbSNP Clinvar
115090019 999.0 G A . 0/1 222 SYNONYMOUS_CODING LOW None 0.19649 0.19650 0.14317 None None None None None None CHAMP1|0.091768231|52.86%
View 1528098 13 rs9525332
dbSNP Clinvar
115091399 999.0 T C . 0/1 94 SYNONYMOUS_CODING LOW None 0.12101 0.12100 0.08381 None None None None None None CHAMP1|0.091768231|52.86%
View 1528098 13 rs149344812
dbSNP Clinvar
115091726 999.0 T G . 0/1 69 SYNONYMOUS_CODING LOW None 0.00040 0.00040 0.00277 None None None None None None CHAMP1|0.091768231|52.86%

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 1528098 13 rs7335867
dbSNP Clinvar
53035925 999.0 A G . 1/1 105 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 1528098 13 rs7337054
dbSNP Clinvar
53035783 999.0 T C . 1/1 145 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
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1528098 13 rs912284
dbSNP Clinvar
100537232 999.0 T C . 1/1 126 None None None 0.82268 0.82270 0.14121 0.00 None None None None None None CLYBL|0.43420364|18.99%
View 1528098 13 rs3783185
dbSNP Clinvar
100518580 999.0 A G . 0/1 66 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%

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 1528098 13 rs3014960
dbSNP Clinvar
46077381 999.0 G A . 1/1 106 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 1528098 13 rs3014902
dbSNP Clinvar
46108853 999.0 T C . 1/1 118 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 1528098 13 rs2274285
dbSNP Clinvar
46103935 999.0 A G . 1/1 207 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 1528098 13 rs2985959
dbSNP Clinvar
46067593 999.0 G A . 0/1 190 SYNONYMOUS_CODING LOW None 0.36042 0.36040 0.36852 None None None None None None COG3|0.283875936|28.81%
View 1528098 13 rs2985989
dbSNP Clinvar
46108854 999.0 G A . 1/1 118 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 1528098 13 rs3812882
dbSNP Clinvar
40229891 999.0 G A . 1/1 136 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%
View 1528098 13 . 40298638 162.0 ta... ta... . 0/1 9 None None None None None None None None None COG6|0.303873453|27.36%
View 1528098 13 rs3812883
dbSNP Clinvar
40229957 999.0 T A . 1/1 175 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
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1528098 13 rs1133219
dbSNP Clinvar
110813709 999.0 G A . 0/1 161 SYNONYMOUS_CODING LOW None 0.30791 0.30790 0.35676 None None None None None None COL4A1|0.224151486|33.94%
View 1528098 13 rs536174
dbSNP Clinvar
110839550 999.0 T G . 1/1 87 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None COL4A1|0.224151486|33.94%
View 1528098 13 rs1373744
dbSNP Clinvar
110843985 999.0 T C . 1/1 47 None None None 0.91613 0.91610 None None None None None None COL4A1|0.224151486|33.94%
View 1528098 13 rs9515185
dbSNP Clinvar
110959356 999.0 C G . 1/1 7 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
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1528098 13 rs4103
dbSNP Clinvar
111098226 999.0 C T . 1/1 56 SYNONYMOUS_CODING LOW None 0.48283 0.48280 0.48987 None None None None None None COL4A2|0.044971251|64.22%
View 1528098 13 rs4238272
dbSNP Clinvar
111077197 999.0 G A . 1/1 119 SYNONYMOUS_CODING LOW None 0.94269 0.94270 0.06729 None None None None None None COL4A2|0.044971251|64.22%
View 1528098 13 rs76425569
dbSNP Clinvar
111102042 999.0 G A . 0/1 102 SYNONYMOUS_CODING LOW None 0.23862 0.23860 0.26285 None None None None None None COL4A2|0.044971251|64.22%
View 1528098 13 rs74941798
dbSNP Clinvar
111102126 999.0 C T . 0/1 177 SYNONYMOUS_CODING LOW None 0.24681 0.24680 0.28476 None None None None None None COL4A2|0.044971251|64.22%
View 1528098 13 rs438758
dbSNP Clinvar
111155773 999.0 T C . 1/1 97 SYNONYMOUS_CODING LOW None 0.98023 0.98020 0.01286 None None None None None None COL4A2|0.044971251|64.22%
View 1528098 13 rs445348
dbSNP Clinvar
111158874 999.0 A G . 0/1 174 SYNONYMOUS_CODING LOW None 0.75200 0.75200 0.12908 None None None None None None COL4A2|0.044971251|64.22%
View 1528098 13 rs7990383
dbSNP Clinvar
111111235 999.0 G A . 0/1 90 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%
View 1528098 13 rs7990214
dbSNP Clinvar
111111173 999.0 G A . 0/1 107 SYNONYMOUS_CODING LOW None 0.49141 0.49140 0.37904 None None None None None None COL4A2|0.044971251|64.22%
View 1528098 13 rs4771683
dbSNP Clinvar
111156499 999.0 C T . 1/1 126 SYNONYMOUS_CODING LOW None 0.93590 0.93590 0.05438 None None None None None None COL4A2|0.044971251|64.22%
View 1528098 13 rs409858
dbSNP Clinvar
111154061 999.0 T C . 1/1 44 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05167 None None None None None None COL4A2|0.044971251|64.22%
View 1528098 13 rs439831
dbSNP Clinvar
111154058 999.0 T A . 1/1 46 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05156 None None None None None None COL4A2|0.044971251|64.22%

CPB2

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 1528098 13 rs1926447
dbSNP Clinvar
46629944 999.0 A G . 1/1 106 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%