SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes at Omim

ATP7B, ATP8A2, BRCA2, CARS2, CENPJ, CLN5, COL4A1, COL4A2, DIAPH3, EDNRB, ERCC5, F10, FGF9, FLT3, FREM2, GJA3, GPC6, GRK1, HTR2A, ING1, IRS2, ITM2B, KL, LIG4, MIPEP, NALCN, PIBF1, POLR1D, PROZ, RCBTB1, SACS, SGCG, SLC10A2, SLC25A15, SLITRK6, SPRY2, SUCLA2, TBC1D4, TNFSF11, UFM1,
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)
CLN5 Ceroid lipofuscinosis, neuronal, 5, 256731 (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)
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)
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)
ITM2B Dementia, familial British, 176500 (3)
Dementia, familial Danish, 117300 (3)
?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities, 616079 (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)
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)
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

ATP7B, BRCA2, CARS2, CENPJ, CLN5, COL4A1, COL4A2, EDNRB, ERCC5, F10, FGF9, FREM2, GJA3, GPC6, GRK1, HTR2A, IFT88, ITM2B, KL, LIG4, NALCN, POLR1D, PROZ, RXFP2, SACS, SGCG, SLC10A2, SLC25A15, SLITRK6, 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
CLN5 Ceroid lipofuscinosis, neuronal, 5
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
GPC6 Omodysplasia 1
GRK1 Oguchi disease 2
HTR2A Major depressive disorder, response to citalopram therapy in
Clozapine, response to
IFT88 Ciliopathy, IFT88-related
ITM2B Cerebral amyloid angiopathy
Dementia, familial Danish
Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities
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
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
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: 3067
Number of Genes: 169

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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs899494
dbSNP Clinvar
95861804 5128.77 A G . 1/1 158 SYNONYMOUS_CODING LOW None 0.80751 0.80750 0.16977 None None None None None None ABCC4|0.142494523|44.07%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs11568658
dbSNP Clinvar
95863008 1193.77 C A . 0/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.05172 0.05172 0.01722 0.00 0.89 None None None None None None ABCC4|0.142494523|44.07%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs1751034
dbSNP Clinvar
95714976 4123.77 C T . 1/1 125 SYNONYMOUS_CODING LOW None 0.79433 0.79430 0.20345 None None None None None None ABCC4|0.142494523|44.07%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs1189466
dbSNP Clinvar
95726541 3573.77 A G . 1/1 113 SYNONYMOUS_CODING LOW None 0.90355 0.90360 0.05467 None None None None None None ABCC4|0.142494523|44.07%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs1678339
dbSNP Clinvar
95727780 5229.77 T C . 1/1 162 SYNONYMOUS_CODING LOW None 0.88778 0.88780 0.07420 None None None None None None ABCC4|0.142494523|44.07%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs2274405
dbSNP Clinvar
95858978 6988.77 T C . 1/1 167 SYNONYMOUS_CODING LOW None 0.62600 0.62600 0.33592 None None None None None None ABCC4|0.142494523|44.07%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs2274406
dbSNP Clinvar
95858996 6330.77 T C . 1/1 149 SYNONYMOUS_CODING LOW None 0.51817 0.51820 0.43911 None None None None None None ABCC4|0.142494523|44.07%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs2274407
dbSNP Clinvar
95859035 1215.77 C A . 0/1 126 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.15056 0.15060 0.10457 0.00 0.06 None None None None None None ABCC4|0.142494523|44.07%

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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs757251234
dbSNP Clinvar
64320959 580.73 C CC... . 1/1 14 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None None

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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs3803185
dbSNP Clinvar
50205025 4541.77 T C . 0/1 290 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs368865
dbSNP Clinvar
113479820 5417.77 A G . 1/1 169 NON_SYNONYMOUS_CODING MODERATE None 0.84225 0.84230 0.20145 1.00 0.00 None None None None None None ATP11A|0.13314168|45.42%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs11616795
dbSNP Clinvar
113530199 2415.77 G A . 0/1 180 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%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs9549573
dbSNP Clinvar
113508839 2484.77 G C . 0/1 166 SYNONYMOUS_CODING LOW None 0.69629 0.69630 0.28261 None None None None None None ATP11A|0.13314168|45.42%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs9577174
dbSNP Clinvar
113534907 3230.05 T C . 0/1 241 None None None 0.39018 0.39020 None None None None None None ATP11A|0.13314168|45.42%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs1290177
dbSNP Clinvar
113536132 5236.77 T C . 0/1 367 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.56490 0.56490 0.46179 None None None None None None ATP11A|0.13314168|45.42%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs1320525
dbSNP Clinvar
113527967 1099.77 G A . 0/1 98 SYNONYMOUS_CODING LOW None 0.37480 0.37480 0.36322 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs7981616
dbSNP Clinvar
25265103 1970.77 A G . 0/1 137 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.29533 0.29530 0.20437 None None None None None None ATP12A|0.195110246|37.26%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs963984
dbSNP Clinvar
25266932 1598.77 C A . 0/1 98 SYNONYMOUS_CODING LOW None 0.23263 0.23260 0.10057 None None None None None None ATP12A|0.195110246|37.26%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs2071490
dbSNP Clinvar
25265139 2361.77 T C . 0/1 169 SYNONYMOUS_CODING LOW None 0.29553 0.29550 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs9285616
dbSNP Clinvar
114312354 5146.77 T G . 1/1 158 SYNONYMOUS_CODING LOW None 1.00000 1.00000 0.00008 None None None None None None ATP4B|0.020415795|73.96%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs75160036
dbSNP Clinvar
114307246 2143.77 G A . 0/1 175 NON_SYNONYMOUS_CODING MODERATE None 0.00899 0.00899 0.01030 0.28 0.00 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs1801249
dbSNP Clinvar
52515354 1336.77 A G . 0/1 145 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%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs732774
dbSNP Clinvar
52523808 1419.77 C T . 0/1 122 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs1801248
dbSNP Clinvar
52520435 2686.77 C T . 0/1 196 SYNONYMOUS_CODING LOW None 0.01238 0.01238 0.02953 None None None None None None ATP7B|0.044059753|64.5%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs1801244
dbSNP Clinvar
52544805 1535.77 C G . 0/1 115 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs1801243
dbSNP Clinvar
52548140 1575.77 A C . 0/1 171 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs1061472
dbSNP Clinvar
52524488 1659.77 T C . 0/1 152 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%

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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs6491066
dbSNP Clinvar
26148966 549.77 C T . 0/1 53 SYNONYMOUS_CODING LOW None 0.53634 0.53630 0.29168 None None None None None None ATP8A2|0.338221309|24.95%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs6491088
dbSNP Clinvar
26273385 4907.77 G C . 1/1 150 SYNONYMOUS_CODING LOW None 0.98742 0.98740 0.01018 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs4943266
dbSNP Clinvar
31821992 1840.77 T C . 1/1 59 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs1801499
dbSNP Clinvar
32910721 2054.77 T C . 0/1 142 SYNONYMOUS_CODING LOW None 0.07348 0.07348 0.03129 None None None None None None BRCA2|0.561492787|13.3%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs206076
dbSNP Clinvar
32915005 4705.77 G C . 1/1 132 SYNONYMOUS_CODING LOW None 0.00040 0.97360 0.02453 None None None None None None BRCA2|0.561492787|13.3%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs766173
dbSNP Clinvar
32906480 1182.77 A C . 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.07368 0.07368 0.03117 0.05 0.05 None None None None None None BRCA2|0.561492787|13.3%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs1801439
dbSNP Clinvar
32906980 1503.77 A G . 0/1 111 SYNONYMOUS_CODING LOW None 0.07368 0.07368 0.03101 None None None None None None BRCA2|0.561492787|13.3%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs206075
dbSNP Clinvar
32913055 4291.77 A G . 1/1 130 SYNONYMOUS_CODING LOW None 0.97404 0.97400 0.02423 None None None None None None BRCA2|0.561492787|13.3%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs543304
dbSNP Clinvar
32912299 1454.77 T C . 0/1 111 SYNONYMOUS_CODING LOW None 0.16813 0.16810 0.19111 None None None None None None BRCA2|0.561492787|13.3%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs1799944
dbSNP Clinvar
32911463 2025.77 A G . 0/1 144 NON_SYNONYMOUS_CODING MODERATE None 0.08007 0.08007 0.03725 1.00 0.00 None None None None None None BRCA2|0.561492787|13.3%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs169547
dbSNP Clinvar
32929387 3172.77 T C . 1/1 104 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs9600567
dbSNP Clinvar
76445316 1184.77 C T . 0/1 87 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs202198487
dbSNP Clinvar
24895437 16931.8 G A . 1/1 484 NON_SYNONYMOUS_CODING MODERATE None 0.17372 0.17370 0.09963 0.29 0.14 None None None None None None C1QTNF9|0.007159011|83.32%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs1974332
dbSNP Clinvar
24890157 8345.77 C T . 1/1 256 NON_SYNONYMOUS_CODING MODERATE None 0.26398 0.26400 0.21652 0.01 0.02 None None None None None None C1QTNF9|0.007159011|83.32%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs2862239
dbSNP Clinvar
24895684 14270.8 A G . 1/1 420 SYNONYMOUS_CODING LOW None 0.89577 0.89580 0.12392 None None None None None None C1QTNF9|0.007159011|83.32%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs4275724
dbSNP Clinvar
24890228 10566.8 A C . 1/1 309 SYNONYMOUS_CODING LOW None 0.26757 0.26760 0.22092 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs3864971
dbSNP Clinvar
24465743 16951.8 A G . 1/1 503 SYNONYMOUS_CODING LOW None 0.98383 0.98380 0.01517 None None None None None None C1QTNF9B|0.013563559|78.16%

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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs2304767
dbSNP Clinvar
111340342 1278.77 G A . 0/1 101 SYNONYMOUS_CODING LOW None 0.14796 0.14800 0.24450 None None None None None None CARS2|0.018441874|74.99%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs4628819
dbSNP Clinvar
111319754 1463.77 T C . 0/1 134 SYNONYMOUS_CODING LOW None 0.76238 0.76240 0.22520 None None None None None None CARS2|0.018441874|74.99%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs436462
dbSNP Clinvar
111298392 2993.77 A G . 0/1 201 SYNONYMOUS_CODING LOW None 0.47424 0.47420 0.41281 None None None None None None CARS2|0.018441874|74.99%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs9521906
dbSNP Clinvar
111358000 1542.77 T G . 0/1 98 None None None 0.09205 0.09205 0.71 0.00 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs9300758
dbSNP Clinvar
103388220 8576.77 A G . 1/1 250 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs7983175
dbSNP Clinvar
103385798 7290.77 T C . 1/1 207 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs9554897
dbSNP Clinvar
103383417 6240.77 T C . 1/1 187 NON_SYNONYMOUS_CODING MODERATE None 0.33746 0.33750 0.38590 1.00 0.00 None None None None None None CCDC168|0.000980876|95.56%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs17592438
dbSNP Clinvar
103385534 3222.65 C T . 0/1 224 NON_SYNONYMOUS_CODING MODERATE None 0.10264 0.10260 0.12527 0.54 0.00 None None None None None None CCDC168|0.000980876|95.56%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs7335290
dbSNP Clinvar
103385299 7010.77 A C . 1/1 195 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs7982465
dbSNP Clinvar
103386116 8452.77 C G . 1/1 253 NON_SYNONYMOUS_CODING MODERATE None 0.97125 0.97120 0.02650 0.11 0.40 None None None None None None CCDC168|0.000980876|95.56%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs6491707
dbSNP Clinvar
103385015 7688.77 A G . 1/1 233 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs7982670
dbSNP Clinvar
103386283 7040.77 A G . 1/1 200 SYNONYMOUS_CODING LOW None 0.97145 0.97140 0.02584 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs9546785
dbSNP Clinvar
36801415 1862.77 C T . 0/1 166 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%

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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs9546897
dbSNP Clinvar
36828237 1841.77 T C . 0/1 157 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs2296967
dbSNP Clinvar
36744800 4993.77 G A . 0/1 376 SYNONYMOUS_CODING LOW None 0.07468 0.07468 0.08781 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs1054515
dbSNP Clinvar
52440130 3716.77 A G . 0/1 236 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%

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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs2296971
dbSNP Clinvar
115004914 5574.77 C T . 0/1 311 SYNONYMOUS_CODING LOW None 0.44429 0.44430 0.44210 None None None None None None CDC16|0.574269029|12.84%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs8809
dbSNP Clinvar
115030714 841.77 T C . 0/1 90 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.36941 0.36940 0.35422 None None None None None None CDC16|0.574269029|12.84%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs8002514
dbSNP Clinvar
115002305 1367.77 G A . 0/1 116 SYNONYMOUS_CODING LOW None 0.34165 0.34170 0.32816 None None None None None None CDC16|0.574269029|12.84%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs2296970
dbSNP Clinvar
115004935 5510.77 T C . 0/1 321 SYNONYMOUS_CODING LOW None 0.44169 0.44170 0.43934 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs1805107
dbSNP Clinvar
28537317 1293.77 G A . 0/1 149 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs3742165
dbSNP Clinvar
25466955 781.77 T C . 0/1 66 SYNONYMOUS_CODING LOW None 0.48403 0.48400 0.45187 None None None None None None CENPJ|0.084211858|54.37%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs17402892
dbSNP Clinvar
25479541 2468.77 A C . 0/1 181 NON_SYNONYMOUS_CODING MODERATE None 0.06110 0.06110 0.10557 0.88 0.01 None None None None None None CENPJ|0.084211858|54.37%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs9511510
dbSNP Clinvar
25486911 3637.77 G T . 0/1 238 NON_SYNONYMOUS_CODING MODERATE None 0.06090 0.06090 0.10503 0.17 0.04 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs7335867
dbSNP Clinvar
53035925 5293.77 A G . 1/1 158 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs7337054
dbSNP Clinvar
53035783 6268.77 T C . 1/1 195 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs1800209
dbSNP Clinvar
77574983 1778.77 A G . 0/1 136 NON_SYNONYMOUS_CODING MODERATE None 0.24461 0.24460 0.18826 1.00 0.00 None None None None None None CLN5|0.079356583|55.32%,FBXL3|0.526378926|14.71%

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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs3783185
dbSNP Clinvar
100518580 4634.77 A G . 1/1 141 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
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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs3014902
dbSNP Clinvar
46108853 5687.77 T C . 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs2985989
dbSNP Clinvar
46108854 5687.77 G A . 1/1 129 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs2274285
dbSNP Clinvar
46103935 2900.77 A G . 1/1 87 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs3014960
dbSNP Clinvar
46077381 1677.77 G A . 1/1 53 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.90336 0.90340 0.09573 None None None None None None COG3|0.283875936|28.81%

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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs761859503
dbSNP Clinvar
110822974 1979.77 G A . 0/1 159 NON_SYNONYMOUS_CODING MODERATE None 0.36 None None None None None None COL4A1|0.224151486|33.94%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs874203
dbSNP Clinvar
110827574 3265.77 T A . 0/1 172 SYNONYMOUS_CODING LOW None 0.31789 0.31790 0.33592 None None None None None None COL4A1|0.224151486|33.94%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs874204
dbSNP Clinvar
110827580 3288.77 C T . 0/1 182 SYNONYMOUS_CODING LOW None 0.31809 0.31810 0.33592 None None None None None None COL4A1|0.224151486|33.94%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs536174
dbSNP Clinvar
110839550 8813.77 T G . 1/1 265 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None COL4A1|0.224151486|33.94%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs9515185
dbSNP Clinvar
110959356 2196.77 C G . 0/1 173 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%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs3742207
dbSNP Clinvar
110818598 455.77 T G . 0/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.28834 0.28830 0.32124 0.34 None None None None None None COL4A1|0.224151486|33.94%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs16975492
dbSNP Clinvar
110833702 704.77 C T . 0/1 98 SYNONYMOUS_CODING LOW None 0.30711 0.30710 0.32162 None None None None None None COL4A1|0.224151486|33.94%

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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs4238272
dbSNP Clinvar
111077197 4390.77 G A . 1/1 132 SYNONYMOUS_CODING LOW None 0.94269 0.94270 0.06729 None None None None None None COL4A2|0.044971251|64.22%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs439831
dbSNP Clinvar
111154058 7356.77 T A . 1/1 164 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05156 None None None None None None COL4A2|0.044971251|64.22%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs4103
dbSNP Clinvar
111098226 1941.77 C T . 0/1 176 SYNONYMOUS_CODING LOW None 0.48283 0.48280 0.48987 None None None None None None COL4A2|0.044971251|64.22%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs76425569
dbSNP Clinvar
111102042 1956.77 G A . 0/1 192 SYNONYMOUS_CODING LOW None 0.23862 0.23860 0.26285 None None None None None None COL4A2|0.044971251|64.22%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs74941798
dbSNP Clinvar
111102126 1719.77 C T . 0/1 201 SYNONYMOUS_CODING LOW None 0.24681 0.24680 0.28476 None None None None None None COL4A2|0.044971251|64.22%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs7990214
dbSNP Clinvar
111111173 1649.77 G A . 0/1 156 SYNONYMOUS_CODING LOW None 0.49141 0.49140 0.37904 None None None None None None COL4A2|0.044971251|64.22%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs7990383
dbSNP Clinvar
111111235 1976.77 G A . 0/1 164 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs438758
dbSNP Clinvar
111155773 3750.77 T C . 1/1 108 SYNONYMOUS_CODING LOW None 0.98023 0.98020 0.01286 None None None None None None COL4A2|0.044971251|64.22%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs409858
dbSNP Clinvar
111154061 7356.77 T C . 1/1 169 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05167 None None None None None None COL4A2|0.044971251|64.22%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs445348
dbSNP Clinvar
111158874 8457.77 A G . 1/1 268 SYNONYMOUS_CODING LOW None 0.75200 0.75200 0.12908 None None None None None None COL4A2|0.044971251|64.22%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs4771683
dbSNP Clinvar
111156499 4899.77 C T . 1/1 154 SYNONYMOUS_CODING LOW None 0.93590 0.93590 0.05438 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 sample15_s3_s3_001_filtered_dp10_splitted 13 rs2277440
dbSNP Clinvar
46638826 1168.77 G A . 0/1 101 SYNONYMOUS_CODING LOW None 0.14337 0.14340 0.08381 None None None None None None CPB2|0.106282021|49.92%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs7337140
dbSNP Clinvar
46641481 1121.77 T C . 1/1 42 SYNONYMOUS_CODING LOW None 0.80671 0.80670 0.21529 None None None None None None CPB2|0.106282021|49.92%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs9316179
dbSNP Clinvar
46641466 340.77 A G . 0/1 40 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.30751 0.30750 0.34553 None None None None None None CPB2|0.106282021|49.92%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs2296642
dbSNP Clinvar
46656669 1947.77 A G . 1/1 63 SYNONYMOUS_CODING LOW None 0.79872 0.79870 0.22044 None None None None None None CPB2|0.106282021|49.92%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs3742264
dbSNP Clinvar
46648094 697.77 C T . 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.30731 0.30730 0.34569 0.71 0.00 None None None None None None CPB2|0.106282021|49.92%
View sample15_s3_s3_001_filtered_dp10_splitted 13 rs1926447
dbSNP Clinvar
46629944 2436.77 A G . 1/1 74 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%