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

ALOXE3, ASPA, AXIN2, CSNK1D, CTC1, DGKE, DLX4, GPR179, HNF1B, ITGB4, JUP, KRT13, KRT9, NF1, NLRP1, P2RX1, PRPF8, SLC13A5, TOP2A, TP53, TRIM37, WDR81,
ALOXE3 Ichthyosis, congenital, autosomal recessive 3, 606545 (3)
ASPA Canavan disease, 271900 (3)
AXIN2 Colorectal cancer, somatic, 114500 (3)
Oligodontia-colorectal cancer syndrome, 608615 (3)
CSNK1D Advanced sleep-phase syndrome, familial, 2, 615224 (3)
CTC1 Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
DGKE Nephrotic syndrome, type 7, 615008 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 7}, 615008 (3)
DLX4 ?Orofacial cleft 15, 616788 (3)
GPR179 Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3)
HNF1B Diabetes mellitus, noninsulin-dependent, 125853 (3)
Renal cysts and diabetes syndrome, 137920 (3)
{Renal cell carcinoma}, 144700 (3)
ITGB4 Epidermolysis bullosa of hands and feet, 131800 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)
JUP Arrhythmogenic right ventricular dysplasia 12, 611528 (3)
Naxos disease, 601214 (3)
KRT13 White sponge nevus 2, 615785 (3)
KRT9 Palmoplantar keratoderma, epidermolytic, 144200 (3)
NF1 Leukemia, juvenile myelomonocytic, 607785 (3)
Neurofibromatosis, familial spinal, 162210 (3)
Neurofibromatosis, type 1, 162200 (3)
Neurofibromatosis-Noonan syndrome, 601321 (3)
Watson syndrome, 193520 (3)
NLRP1 ?Corneal intraepithelial dyskeratosis and ectodermal dysplasia, 615225 (3)
{Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3)
P2RX1 Bleeding disorder due to P2RX1 defect, somatic, 609821 (3)
PRPF8 Retinitis pigmentosa 13, 600059 (3)
SLC13A5 Epileptic encephalopathy, early infantile, 25, 615905 (3)
TOP2A DNA topoisomerase II, resistance to inhibition of, by amsacrine (3)
TP53 Adrenal cortical carcinoma, 202300 (3)
Breast cancer, 114480 (3)
Choroid plexus papilloma, 260500 (3)
Colorectal cancer, 114500 (3)
Hepatocellular carcinoma, 114550 (3)
Li-Fraumeni syndrome, 151623 (3)
Nasopharyngeal carcinoma, 607107 (3)
Osteosarcoma, 259500 (3)
Pancreatic cancer, 260350 (3)
{Basal cell carcinoma 7}, 614740 (3)
{Glioma susceptibility 1}, 137800 (3)
TRIM37 Mulibrey nanism, 253250 (3)
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)

Genes at Clinical Genomics Database

ALOXE3, ASPA, AXIN2, CSNK1D, CTC1, DGKE, DLX4, GPR179, HNF1B, ITGB4, JUP, KRT13, KRT9, NF1, NLRP1, PRPF8, SLC13A5, TP53, TRIM37, WDR81,
ALOXE3 Ichthyosiform erythroderma, congenital, nonbullous, 1
ASPA Aspartoacylase deficiency (Canavan disease)
AXIN2 Oligodontia-colorectal cancer syndrome
CSNK1D Advanced sleep-phase syndrome, familial, 2
CTC1 Cerebroretinal microangiopathy with calcifications and cysts
DGKE Nephrotic syndrome, type 7
DLX4 Orofacial cleft 15
GPR179 Night blindness, congenital stationary, type 1E
HNF1B Renal cell carcinoma, nonpapillary chromophobe
ITGB4 Epidermolysis bullosa simplex, Weber-Cockayne type
Epidermolysis bullosa, junctional, non-Herlitz type
Epidermolysis bullosa, junctional, with pyloric atresia
JUP Naxos disease
Arrhythmogenic right ventricular dysplasia, familial, 12
KRT13 White sponge nevus 2
KRT9 Knuckle pads
Palmoplantar keratoderma, epidermolytic
NF1 Watson syndrome
Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome
NLRP1 Corneal intraepithelial dyskeratosis and ectodermal dysplasia
PRPF8 Retinitis pigmentosa 13
SLC13A5 Epileptic encephalopathy, early infantile 25
TP53 Colorectal cancer
Adrenocortical carcinoma
Non-Hodgkin lymphoma
Hepatoblastoma
Breast cancer, familial
Osteogenic sarcoma
Ependymoma, intracranial
Choroid plexus papilloma
Li-Fraumeni syndrome
TRIM37 Mulibrey nanism
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2

Genes at HGMD

Summary

Number of Variants: 6518
Number of Genes: 122

Export to: CSV

AATK

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 23 recalibrated filtered postcgp gqfiltered 17 . 79094391 696.2 A G PASS 0/1 56 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 79094279 385.98 C T PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18 0.06 None None None None None None None

ABCA10

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 23 recalibrated filtered postcgp gqfiltered 17 . 67161161 9345.42 A T PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.56 0.03 None None None None None None None

ABCC3

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 23 recalibrated filtered postcgp gqfiltered 17 . 48762204 1220.63 C T PASS 1/1 40 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 48762128 756.52 G A PASS 1/1 18 STOP_GAINED HIGH NONSENSE None None None None None None None

ABHD15

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 23 recalibrated filtered postcgp gqfiltered 17 . 27893329 198.19 G T PASS 1/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.98 None None None None None None None

AC135178.1

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 23 recalibrated filtered postcgp gqfiltered 17 . 8263060 148757.78 T C PASS 0/1 93 SYNONYMOUS_CODING LOW None None None None None None None

ACAP1

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 23 recalibrated filtered postcgp gqfiltered 17 . 7251263 1613.9 T C PASS 0/1 36 PROTEIN_INTERACTION_LOCUS HIGH 0.34 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 7247233 77667.15 A G PASS 1/1 45 SYNONYMOUS_CODING LOW None None None None None None None

ALOX15

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 23 recalibrated filtered postcgp gqfiltered 17 . 4536217 15191.3 A G,C PASS 0/1 118 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 4536220 12777.06 G T PASS 0/1 120 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.98 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 4536237 54569.19 T C PASS 0/1 174 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 4544941 1269.31 C T PASS 0/1 41 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 4540415 1402.53 C G PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.12 1.60 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 4536202 13699.99 A G PASS 0/1 92 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 4536206 59597.63 C G PASS 1/1 96 SYNONYMOUS_CODING LOW None None None None None None None

ALOX15B

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 23 recalibrated filtered postcgp gqfiltered 17 . 7950038 688.4 A G PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15 0.53 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 7945769 67584.53 C G PASS 0/1 60 PROTEIN_INTERACTION_LOCUS HIGH 0.52 0.00 None None None None None None None

ALOXE3

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 23 recalibrated filtered postcgp gqfiltered 17 . 8020246 1922.18 T C PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.97 None None None None None None None

ANKFY1

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 23 recalibrated filtered postcgp gqfiltered 17 . 4076655 10016.84 G A PASS 0/1 12 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

APPBP2

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 23 recalibrated filtered postcgp gqfiltered 17 . 58531800 25.27 C A PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.52 None None None None None None None

ARL4D

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 23 recalibrated filtered postcgp gqfiltered 17 . 41477102 8619.26 C T PASS 0/1 100 SYNONYMOUS_START LOW 3.80 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 41477358 1001.3 G C PASS 1/1 7 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ASGR1

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 23 recalibrated filtered postcgp gqfiltered 17 . 7080186 325.31 G A PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

ASGR2

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 23 recalibrated filtered postcgp gqfiltered 17 . 7012082 581.15 C G PASS 0/1 65 SYNONYMOUS_CODING LOW None None None None None None None

ASPA

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 23 recalibrated filtered postcgp gqfiltered 17 . 3397649 1127.63 G A PASS 0/1 75 PROTEIN_INTERACTION_LOCUS HIGH 0.26 0.41 None None None None None None None

ATP1B2

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 23 recalibrated filtered postcgp gqfiltered 17 . 7557200 60413.02 G C PASS 1/1 75 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.17 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 7557950 217.2 G C PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.48 None None None None None None None

AXIN2

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 23 recalibrated filtered postcgp gqfiltered 17 . 63545691 22897.28 C T PASS 0/1 104 SYNONYMOUS_CODING LOW SILENT -0.22 None None None None None None None

BECN1

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 23 recalibrated filtered postcgp gqfiltered 17 . 40963690 17250.39 G A PASS 0/1 63 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 40966545 23239.39 G A PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12 0.01 None None None None None None None

C17orf64

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 23 recalibrated filtered postcgp gqfiltered 17 . 58506844 27578.77 A C PASS 0/1 75 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.98 2.19 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 58503636 112029.25 T C PASS 1/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.98 None None None None None None None

CCDC182

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 23 recalibrated filtered postcgp gqfiltered 17 . 55822600 656.13 T C PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 55822604 724.12 C T PASS 0/1 20 SYNONYMOUS_CODING LOW SILENT None None None None None None None

CDK12

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 23 recalibrated filtered postcgp gqfiltered 17 . 37687414 38677.24 G A PASS 0/1 104 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.83 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 37687272 9197.3 T C PASS 0/1 71 SYNONYMOUS_CODING LOW SILENT None None None None None None None

CHAD

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 23 recalibrated filtered postcgp gqfiltered 17 . 48542749 191.58 T C PASS 0/1 7 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 48542733 159.97 G T PASS 0/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.01 None None None None None None None

CHD3

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 23 recalibrated filtered postcgp gqfiltered 17 . 7797886 18043.02 A G PASS 0/1 12 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.93 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 7798808 5612.03 GC... G PASS 0/1 6 FRAME_SHIFT HIGH None None None None None None None

CNTD1

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 23 recalibrated filtered postcgp gqfiltered 17 . 40958710 53247.48 C T PASS 0/1 74 SYNONYMOUS_CODING LOW 2.74 None None None None None None None

CNTROB

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 23 recalibrated filtered postcgp gqfiltered 17 . 7852781 400.63 G T PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.72 None None None None None None None

CRLF3

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 23 recalibrated filtered postcgp gqfiltered 17 . 29111451 14168.31 G A PASS 0/1 50 SYNONYMOUS_CODING LOW 6.84 None None None None None None None

CSNK1D

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 23 recalibrated filtered postcgp gqfiltered 17 . 80206819 19494.63 A C PASS 0/1 13 SYNONYMOUS_CODING LOW None None None None None None None

CTC1

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 23 recalibrated filtered postcgp gqfiltered 17 . 8141710 11618.93 CT C,* PASS 0/1 9 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None

CXCL16

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 23 recalibrated filtered postcgp gqfiltered 17 . 4638613 3299.4 C T PASS 0/1 92 SYNONYMOUS_CODING LOW SILENT 2.91 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 4638449 8091.32 T C VQSRTrancheSNP99.90to100.00 0/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.87 None None None None None None None

CYTH1

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 23 recalibrated filtered postcgp gqfiltered 17 . 76688516 3353.41 C T PASS 0/1 117 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

DGKE

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 23 recalibrated filtered postcgp gqfiltered 17 . 54912559 8035.36 G A PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18 0.62 None None None None None None None

DHX40

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 23 recalibrated filtered postcgp gqfiltered 17 . 57679952 2360.97 A AT PASS 1/1 75 FRAME_SHIFT HIGH None None None None None None None

DHX8

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 23 recalibrated filtered postcgp gqfiltered 17 . 41567795 98700.53 T C PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.00 None None None None None None None

DLX4

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 23 recalibrated filtered postcgp gqfiltered 17 . 48050478 50.14 CAA C PASS 0/1 9 FRAME_SHIFT HIGH None None None None None None None

DNAH2

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 23 recalibrated filtered postcgp gqfiltered 17 . 7689484 7837.96 C T PASS 0/1 11 STOP_GAINED HIGH NONSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 7689462 20194.36 G A PASS 0/1 14 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 7626953 49810.84 C T PASS 0/1 42 SYNONYMOUS_CODING LOW SILENT None None None None None None None

DNAH9

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 23 recalibrated filtered postcgp gqfiltered 17 . 11757405 25953.21 G T PASS 1/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.72 None None None None None None None

DUSP3

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 23 recalibrated filtered postcgp gqfiltered 17 . 41847169 83618.1 C T PASS 0/1 30 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 41847107 31219.33 C G PASS 1/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.53 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 41847095 19939.46 G A PASS 0/1 5 SYNONYMOUS_CODING LOW None None None None None None None

EFCAB5

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 23 recalibrated filtered postcgp gqfiltered 17 . 28326964 1677.38 AT A,ATT PASS 1/1 1 FRAME_SHIFT HIGH None None None None None None None

ENDOV

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 23 recalibrated filtered postcgp gqfiltered 17 rs775271641
dbSNP
78399340 82280.21 G A PASS 0/1 29 PROTEIN_INTERACTION_LOCUS HIGH 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 78399349 89467.18 C T PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 78397961 4654.3 G A PASS 0/1 12 None None None 0.00 0.00 None None None None None None None

EPN3

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 23 recalibrated filtered postcgp gqfiltered 17 . 48614225 13411.99 A AG... PASS 1/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

ETV4

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 23 recalibrated filtered postcgp gqfiltered 17 . 41610252 98353.89 A G PASS 1/1 78 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.44 0.79 None None None None None None None

FAM187A

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 23 recalibrated filtered postcgp gqfiltered 17 . 42981225 8431.91 G A PASS 1/1 81 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12 0.97 None None None None None None None

FAM215A

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 23 recalibrated filtered postcgp gqfiltered 17 rs766840445
dbSNP
41994952 97389.97 G A PASS 1/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.94 None None None None None None None

FASN

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 23 recalibrated filtered postcgp gqfiltered 17 . 80047144 2115.94 C T PASS 0/1 31 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 80047143 2116.03 G T PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.98 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 80047142 2116.04 G T PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37 0.63 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 80039925 113555.8 G C PASS 1/1 75 SYNONYMOUS_CODING LOW None None None None None None None

FBXW10

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 23 recalibrated filtered postcgp gqfiltered 17 . 18682300 431.37 T C PASS 1/1 4 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 18682274 600.38 A G PASS 1/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16 0.18 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 18682294 224.38 T C PASS 1/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.29 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 18681923 3788.06 G A PASS 0/1 228 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 18682155 939.42 T C PASS 1/1 30 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 18682002 257.62 G A PASS 0/1 72 SYNONYMOUS_CODING LOW None None None None None None None

FLII

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 23 recalibrated filtered postcgp gqfiltered 17 . 18156878 12970.7 G A PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 18154593 14373.61 A G PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 18151915 8645.73 G A PASS 1/1 73 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 18148661 8117.53 T C PASS 1/1 57 None None None 0.16 0.00 None None None None None None None

FXR2

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 23 recalibrated filtered postcgp gqfiltered 17 . 7499237 95231.09 G A PASS 0/1 127 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71 0.06 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 7499281 76945.09 T C PASS 0/1 119 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 7496722 65043.09 C T PASS 0/1 55 STOP_GAINED+SPLICE_SITE_REGION HIGH NONSENSE None None None None None None None

GPR179

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 23 recalibrated filtered postcgp gqfiltered 17 . 36493030 22681.46 T C PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.27 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 36499504 305.74 CT... C PASS 0/1 4 CODON_DELETION MODERATE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 36486677 55953.76 G A PASS 0/1 222 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

HEATR6

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 23 recalibrated filtered postcgp gqfiltered 17 . 58156254 333.76 CT C,TT PASS 1/1 2 FRAME_SHIFT HIGH None None None None None None None

HNF1B

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 23 recalibrated filtered postcgp gqfiltered 17 . 36104732 28565.88 A G PASS 1/1 86 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ITGAE

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 23 recalibrated filtered postcgp gqfiltered 17 . 3649078 8247.78 G C PASS 0/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.91 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 3664718 97445.08 A G PASS 1/1 52 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 3663563 4908.81 C T PASS 1/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.90 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 3662751 552.68 T TC PASS 1/1 8 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 3655123 188750.63 C G PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67 0.00 None None None None None None None

ITGB4

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 23 recalibrated filtered postcgp gqfiltered 17 . 73751197 623.8 G A PASS 0/1 66 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 73751139 662.61 G C PASS 0/1 75 None None None 0.06 0.76 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 73751145 1066.43 G A PASS 0/1 76 None None None 0.07 0.03 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 73751258 1293.81 G A PASS 0/1 77 None None None 0.33 0.99 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 73751255 1290.23 C T PASS 0/1 79 None None None 0.05 0.99 None None None None None None None