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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
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Genes at Omim

ABCC8, AMPD3, ATM, BEST1, CD151, CD81, CLPB, DCHS1, DEAF1, F2, FIBP, FOLR1, HBD, HRAS, IFITM3, IRF7, KMT2A, LMO2, LRP4, LRTOMT, MMP3, MS4A1, MUC5B, MYBPC3, MYO7A, OTOG, PACS1, PC, PGR, PNPLA2, SBF2, SLC22A12, SLC6A5, TRIM44, USH1C, WT1,
ABCC8 Diabetes mellitus, noninsulin-dependent, 125853 (3)
Diabetes mellitus, permanent neonatal, 606176 (3)
Diabetes mellitus, transient neonatal 2, 610374 (3)
Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)
Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
AMPD3 [AMP deaminase deficiency, erythrocytic], 612874 (3)
ATM Ataxia-telangiectasia, 208900 (3)
Lymphoma, B-cell non-Hodgkin, somatic (3)
Lymphoma, mantle cell, somatic (3)
T-cell prolymphocytic leukemia, somatic (3)
{Breast cancer, susceptibility to}, 114480 (3)
BEST1 Bestrophinopathy, autosomal recessive, 611809 (3)
Macular dystrophy, vitelliform, 2, 153700 (3)
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3)
Retinitis pigmentosa, concentric, 613194 (3)
Retinitis pigmentosa-50, 613194 (3)
Vitreoretinochoroidopathy, 193220 (3)
CD151 Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3)
[Blood group, Raph], 179620 (3)
CD81 Immunodeficiency, common variable, 6, 613496 (3)
CLPB 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3)
DCHS1 Mitral valve prolapse 2, 607829 (3)
Van Maldergem syndrome 1, 601390 (3)
DEAF1 Mental retardation, autosomal dominant 24, 615828 (3)
F2 Dysprothrombinemia, 613679 (3)
Hypoprothrombinemia, 613679 (3)
Thrombophilia due to thrombin defect, 188050 (3)
{Pregnancy loss, recurrent, susceptibility to, 2}, 614390 (3)
{Stroke, ischemic, susceptibility to}, 601367 (3)
FIBP Thauvin-Robinet-Faivre syndrome, 617107 (3)
FOLR1 Neurodegeneration due to cerebral folate transport deficiency, 613068 (3)
HBD Thalassemia due to Hb Lepore (3)
Thalassemia, delta- (3)
HRAS Congenital myopathy with excess of muscle spindles, 218040 (3)
Costello syndrome, 218040 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
{Bladder cancer, somatic}, 109800 (3)
{Nevus sebaceous or woolly hair nevus, somatic}, 162900 (3)
{Spitz nevus or nevus spilus, somatic}, 137550 (3)
{Thyroid carcinoma, follicular, somatic}, 188470 (3)
IFITM3 {Influenza, severe, susceptibility to}, 614680 (3)
IRF7 ?Immunodeficiency 39, 616345 (3)
KMT2A Leukemia, myeloid/lymphoid or mixed-lineage (2)
Wiedemann-Steiner syndrome, 605130 (3)
LMO2 Leukemia, acute T-cell (2)
LRP4 ?Myasthenic syndrome, congenital, 17, 616304 (3)
Cenani-Lenz syndactyly syndrome, 212780 (3)
Sclerosteosis 2, 614305 (3)
LRTOMT Deafness, autosomal recessive 63, 611451 (3)
MMP3 {Coronary heart disease, susceptibility to, 6}, 614466 (3)
MS4A1 Immunodeficiency, common variable, 5, 613495 (3)
MUC5B {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
MYBPC3 Cardiomyopathy, dilated, 1MM, 615396 (3)
Cardiomyopathy, hypertrophic, 4, 115197 (3)
Left ventricular noncompaction 10, 615396 (3)
MYO7A Deafness, autosomal dominant 11, 601317 (3)
Deafness, autosomal recessive 2, 600060 (3)
Usher syndrome, type 1B, 276900 (3)
OTOG Deafness, autosomal recessive 18B, 614945 (3)
PACS1 Schuss-Hoeijmakers sydnrome, 615009 (3)
PC Pyruvate carboxylase deficiency, 266150 (3)
PGR ?Progesterone resistance, 264080 (2)
PNPLA2 Neutral lipid storage disease with myopathy, 610717 (3)
SBF2 Charcot-Marie-Tooth disease, type 4B2, 604563 (3)
SLC22A12 Hypouricemia, renal, 220150 (3)
SLC6A5 Hyperekplexia 3, 614618 (3)
TRIM44 ?Aniridia 3, 617142 (3)
USH1C Deafness, autosomal recessive 18A, 602092 (3)
Usher syndrome, type 1C, 276904 (3)
WT1 Denys-Drash syndrome, 194080 (3)
Frasier syndrome, 136680 (3)
Meacham syndrome, 608978 (3)
Mesothelioma, somatic, 156240 (3)
Nephrotic syndrome, type 4, 256370 (3)
Wilms tumor, type 1, 194070 (3)

Genes at Clinical Genomics Database

ABCC8, AMPD3, ATM, BEST1, CD151, CD81, CLPB, DCHS1, DEAF1, F2, FERMT3, FOLR1, GRIK4, HRAS, IRF7, KMT2A, LRP4, LRTOMT, MS4A1, MYBPC3, MYO7A, OTOG, PACS1, PC, PNPLA2, SBF2, SLC22A12, SLC6A5, USH1C, WT1,
ABCC8 Hypoglycemia, leucine-induced
Hyperinsulinemic hypoglycemia, familial, 1
Diabetes, permanent neonatal
Diabetes mellitus, transient neonatal, 2
AMPD3 Erythrocytic AMP deaminase deficiency
ATM Ataxia-Telangiectasia
Breast cancer, susceptibility to
BEST1 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
Vitreoretinochoroidopathy
CD151 Raph blood group
CD81 Immunodeficiency, common variable, 6
CLPB 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN)
DCHS1 Mitral valve prolapse 2
DEAF1 Mental retardation, autosomal dominant 24
F2 Thrombophilia due to thrombin defect
Prothrombin deficiency, congenital
FERMT3 Leukocyte adhesion deficiency, type III
FOLR1 Cerebral folate deficiency
GRIK4 Response to antidepressant treatment with citalopram
HRAS Congenital myopathy with excess of muscle spindles
Costello syndrome
IRF7 Immunodeficiency 39
KMT2A Wiedemann-Steiner syndrome
LRP4 Sclerosteosis 2
Myasthenic syndrome, congenital 17
Cenani-Lenz syndactyly syndrome
LRTOMT Deafness, autosomal recessive 63
MS4A1 Immunodeficiency, common variable, 5
MYBPC3 Left ventricular noncompaction 10
Cardiomyopathy, dilated, 1MM
Cardiomyopathy, familial hypertrophic, 4
MYO7A Usher syndrome, type 1B
Deafness, autosomal recessive 2
OTOG Deafness, autosomal recessive 18B
PACS1 Mental retardation, autosomal dominant 17
PC Pyruvate carboxylase deficiency
PNPLA2 Neutral lipid storage disease with myopathy
SBF2 Charcot-Marie-Tooth disease, type 4B2 with early-onset glaucoma
SLC22A12 Hypouricemia, renal 1
SLC6A5 Hyperekplexia 3
USH1C Deafness, autosomal recessive 18A
Usher syndrome, type IC
WT1 Frasier syndrome
Wilms tumor, type 1
Denys-Drash syndrome

Genes at HGMD

Summary

Number of Variants: 6949
Number of Genes: 164

Export to: CSV

ABCC8

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 11 . 17498317 6920.35 C T PASS 0/1 133 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.18 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 17416763 953.11 A G PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.84 None None None None None None None

ABCG4

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 11 . 119024976 16786.46 C T PASS 0/1 76 SYNONYMOUS_CODING LOW 1.95 None None rs8192696 2 not_specified 1 None
View 23 recalibrated filtered postcgp gqfiltered 11 . 119027609 7331.3 G A PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.78 None None None None None None None

AHNAK

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 11 . 62297372 101810.75 G C PASS 1/1 17 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 62296427 33097.79 C CA PASS 1/1 72 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 62297369 100474.75 T C PASS 1/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 62299238 28.64 T G PASS 0/1 3 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 None None None None None None None

AMPD3

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 11 . 10500217 55741.61 T C PASS 0/1 95 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ANAPC15

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 11 . 71821307 19546.39 T C PASS 1/1 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 71821298 14513.92 G T PASS 1/1 12 None None None 0.57 0.00 None None None None None None None

ANO9

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 11 rs10794323
dbSNP
428385 51720.04 A G PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.92173 0.92170 0.15092 0.40 0.00 -2.19 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs10794324
dbSNP
428489 68461.41 T C PASS 0/1 164 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.91893 0.91890 0.16818 1.00 0.00 -3.50 None None None None None None None

AP2A2

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 11 rs10794358
dbSNP
985547 46537.72 C T PASS 0/1 103 SYNONYMOUS_CODING LOW SILENT 0.46106 0.46110 0.44776 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs1128413
dbSNP
1010694 2150.31 C T PASS 0/1 27 None None None 0.42772 0.42770 0.00 0.00 0.42 None None None None None None None

AP5B1

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 11 . 65547343 16627.52 CG C PASS 0/1 5 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 65547431 1946.4 C T PASS 0/1 112 SYNONYMOUS_CODING LOW None None None None None None None

APIP

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 11 . 34916568 7953.11 C A PASS 0/1 12 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 34916652 4330.33 C G PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11 0.00 None None None None None None None

ARFIP2

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 11 . 6499116 15917.34 C G PASS 1/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.48 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 6498412 185623.74 G A PASS 1/1 69 SYNONYMOUS_CODING LOW SILENT 0.74 None None None None None None None

ARHGAP1

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 11 . 46700671 2549.21 T C PASS 1/1 37 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ARNTL

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 11 . 13378504 2795.67 T A PASS 0/1 48 None None None None None None None None None None

ATHL1

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 11 rs12801980
dbSNP
293188 88983.48 T C PASS 0/1 51 SYNONYMOUS_CODING LOW SILENT 0.40076 0.40080 0.33854 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs10902120
dbSNP
290816 36000.13 A G PASS 0/1 72 SYNONYMOUS_CODING LOW SILENT 0.66653 0.66650 0.24873 None None None None None None None

ATM

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 11 . 108121598 1279.13 T A PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 108121619 1175.76 G C PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29 0.00 2.21 None None rs3741056 2 not_specified 1 None

B4GALNT4

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 11 rs1134699
dbSNP
379598 3936.14 A G PASS 0/1 101 SYNONYMOUS_CODING LOW SILENT 0.49860 0.49860 0.42043 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs34063493
dbSNP
372157 1402.98 C T PASS 0/1 89 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37560 0.37560 0.33413 0.39 0.06 -1.20 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs35475866
dbSNP
372700 5315.91 G C PASS 0/1 34 SYNONYMOUS_CODING LOW SILENT 0.33067 0.33070 0.29410 None None None None None None None

BACE1

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 11 . 117163903 444817.67 G T PASS 1/1 86 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.05 0.19 None None None None None None None

BEST1

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 11 . 61725853 473.43 G A PASS 0/1 13 None None None 0.03 0.38 None None None None None None None

BRSK2

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 11 . 1480440 128995.39 G C PASS 1/1 80 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21 0.00 None None None None None None None

C11orf16

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 11 . 8947338 3869.34 T G,* PASS 2/2 54 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 8948536 28796.0 C A PASS 1/1 56 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 8947331 3758.27 GA... G PASS 1/1 54 FRAME_SHIFT HIGH None None None None None None None

C11orf24

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 11 . 68029334 845.64 G C PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11 0.39 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 68029289 1065.83 A G PASS 0/1 88 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 68029165 2053.5 T C PASS 0/1 157 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.97 None None None None None None None

C11orf35

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 11 rs7129811
dbSNP
557989 24913.25 C T PASS 0/1 79 SYNONYMOUS_CODING LOW SILENT 0.47185 0.47180 0.44400 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs3943356
dbSNP
559016 36275.99 C T PASS 1/1 90 None None None 0.75819 0.75820 0.25115 0.04 0.50 0.37 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs2061586
dbSNP
558884 44180.99 C T PASS 1/1 84 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.75819 0.75820 0.25108 1.00 0.00 0.05 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs115430352
dbSNP
557617 2165.38 C A,T PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02636 0.02636 0.03660 0.14 0.02 1.71 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs7938269
dbSNP
556857 13275.47 G C PASS 1/1 50 SYNONYMOUS_CODING LOW SILENT 0.87820 0.87820 0.10434 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs28406183
dbSNP
556521 6744.79 C G PASS 1/1 82 SYNONYMOUS_CODING LOW SILENT 0.84605 0.84600 0.13767 None None None None None None None

C2CD2L

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 11 . 118981371 51552.72 A G PASS 1/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.97 None None None None None None None

CCDC73

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 11 . 32635720 50698.16 T C PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.05 None None None None None None None

CCDC82

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 11 . 96092210 3790.5 TT... T PASS 1/1 9 CODON_DELETION MODERATE None None None None None None None

CCDC88B

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 11 . 64119067 1164.84 C T PASS 1/1 16 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 64119002 23.77 C T PASS 0/1 7 STOP_GAINED HIGH NONSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 64116513 59650.6 T C PASS 1/1 160 None None None 0.07 0.10 None None None None None None None

CCS

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 11 . 66366614 7347.3 C T PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05 0.49 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 66366673 24383.03 A G PASS 1/1 24 SYNONYMOUS_CODING LOW None None None None None None None

CD151

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 11 rs1130663
dbSNP
837582 35801.57 G A PASS 0/1 54 SYNONYMOUS_CODING LOW SILENT 0.64217 0.64220 0.36542 None None None None None None None

CD81

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 11 . 2411734 9113.69 T C PASS 0/1 58 SYNONYMOUS_CODING LOW None None None None None None None

CDC42EP2

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 11 . 65088514 3327.49 A G PASS 1/1 100 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 4.54 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 65088636 3345.07 A C PASS 1/1 88 SYNONYMOUS_CODING LOW None None None None None None None

CDHR5

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 11 rs2740375
dbSNP
618998 90656.78 G A PASS 1/1 172 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.49980 0.49980 0.45363 0.50 0.12 -0.72 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs2246614
dbSNP
619789 20633.21 T G PASS 1/1 69 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.61002 0.61000 0.43579 1.00 0.00 -1.09 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs2740380
dbSNP
617537 22701.43 C T PASS 1/1 63 SYNONYMOUS_CODING LOW SILENT 0.48482 0.48480 0.44632 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs2740379
dbSNP
617967 38787.39 C G PASS 1/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98083 0.98080 0.02170 1.00 0.00 -1.47 None None None None None None None

CHID1

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 11 rs1127800
dbSNP
870467 1261.37 C T PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02955 0.02955 0.06165 0.23 0.00 2.72 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs6682
dbSNP
870446 16450.86 G A PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.56889 0.56890 0.47691 0.32 0.01 2.68 None None None None None None None

CHRM1

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 11 . 62677326 42559.85 T G PASS 1/1 5 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.54 None None None None None None None

CKAP5

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 11 . 46780544 42519.72 C A PASS 1/1 17 SYNONYMOUS_CODING LOW None None None None None None None

CLPB

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 11 . 72006567 94.12 T G PASS 0/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05 0.16 None None None None None None None

CST6

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 11 . 65780418 1541.96 C G PASS 0/1 167 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.76 None None None None None None None

CTR9

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 11 . 10774256 168142.92 G T PASS 1/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.16 None None None None None None None

DAGLA

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 11 . 61511118 412.53 C T PASS 0/1 30 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 61490996 2168.56 T C PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10 1.00 None None None None None None None

DCHS1

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 11 . 6655505 57.92 G A PASS 0/1 2 SYNONYMOUS_CODING LOW None None None None None None None

DDX25

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 11 . 125778321 24646.54 C T PASS 1/1 4 STOP_GAINED HIGH NONSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 125776045 3778.55 G A PASS 1/1 131 SYNONYMOUS_CODING LOW SILENT None None None None None None None

DEAF1

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 11 rs34114147
dbSNP
644614 551.4 G C PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00599 0.00599 0.00700 0.81 0.08 0.04 None None None None None None None

DKFZP434E1119

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 11 . 77184436 23.66 G C PASS 0/1 5 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 77184725 8751.8 GG... G PASS 0/1 63 FRAME_SHIFT HIGH None None None None None None None

DNHD1

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 11 . 6566998 40708.34 G A PASS 0/1 92 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99 1.80 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 6566022 338.67 C G PASS 0/1 17 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.02 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 6569927 15613.68 A G PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 None None None None None None None

DSCAML1

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 11 . 117395596 23499.88 C G PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.09 0.71 1.03 None None None None None None None

DUSP8

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 11 . 1585151 767.4 AG... A PASS 0/1 17 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 1585171 6737.31 C T,* PASS 0/2 17 SYNONYMOUS_CODING LOW SILENT 0.33 None None None None None None None

EED

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 11 . 85981138 136020.09 A C PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.00 None None None None None None None

EFCAB4A

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 11 rs4075289
dbSNP
830670 1143.74 G T PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.65236 0.65240 0.30857 0.12 0.14 2.27 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs7126805
dbSNP
828916 141935.7 G A PASS 0/1 104 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.56829 0.56830 0.35484 1.00 0.00 2.28 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs28558789
dbSNP
829539 8623.23 A G PASS 0/1 31 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.66554 0.66550 0.33928 1.00 0.00 1.75 None None None None None None None

EHBP1L1

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 11 . 65352920 1440.44 T C PASS 0/1 81 SYNONYMOUS_CODING LOW None None None None None None None

EPS8L2

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 11 rs7635
dbSNP
721570 15347.19 C T PASS 0/1 239 SYNONYMOUS_CODING LOW SILENT 0.27975 0.27980 0.37303 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs3087546
dbSNP
720197 31713.35 C T PASS 0/1 61 SYNONYMOUS_CODING LOW SILENT 0.49181 0.49180 0.43119 None None None None None None None

F2

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 11 . 46751093 1209.63 CA C PASS 0/1 66 FRAME_SHIFT HIGH None None None None None None None

FAM89B

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 11 . 65340308 7080.57 T C PASS 0/1 5 SYNONYMOUS_CODING LOW None None None None None None None

FCHSD2

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 11 . 72695252 25251.24 C A PASS 1/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.90 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 72700054 1217.35 C T PASS 0/1 24 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 72700037 1350.98 T C PASS 0/1 22 SYNONYMOUS_CODING LOW -0.11 None None None None None None None

FERMT3

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 11 . 63988489 9129.3 A G PASS 0/1 9 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00 0.99 None None None None None None None

FIBP

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 11 . 65655120 817.96 C T PASS 0/1 27 SYNONYMOUS_CODING LOW None None None None None None None

FOLR1

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 11 . 71903265 653.63 G T PASS 0/1 53 SYNONYMOUS_CODING LOW SILENT None None None None None None None

GLB1L3

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 11 . 134183306 229.38 C T PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.94 None None None None None None None

GRIK4

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 11 . 120831669 5895.57 A G PASS 0/1 7 SYNONYMOUS_CODING LOW SILENT None None None None None None None

GRM5

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 11 . 88300493 79540.41 A G PASS 1/1 13 SYNONYMOUS_CODING LOW SILENT None None None None None None None