SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
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EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
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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

ACTC1, ALDH1A3, AP4E1, CAPN3, CASC5, CHRNA3, CHSY1, CILP, FAN1, FBN1, GATM, HERC1, SLC12A6, SORD, TCF12, TGM5, TRPM7, VPS13C,
ACTC1 Atrial septal defect 5, 612794 (3)
Cardiomyopathy, dilated, 1R, 613424 (3)
Cardiomyopathy, hypertrophic, 11, 612098 (3)
Left ventricular noncompaction 4, 613424 (3)
ALDH1A3 Microphthalmia, isolated 8, 615113 (3)
AP4E1 Spastic paraplegia 51, autosomal recessive, 613744 (3)
Stuttering, familial persistent, 1, 184450 (3)
CAPN3 Muscular dystrophy, limb-girdle, type 2A, 253600 (3)
CASC5 Microcephaly 4, primary, autosomal recessive, 604321 (3)
CHRNA3 {Lung cancer susceptibility 2}, 612052 (3)
CHSY1 Temtamy preaxial brachydactyly syndrome, 605282 (3)
CILP {Lumbar disc disease, susceptibility to}, 603932 (3)
FAN1 Interstitial nephritis, karyomegalic, 614817 (3)
FBN1 Acromicric dysplasia, 102370 (3)
Aortic aneurysm, ascending, and dissection (3)
Ectopia lentis, familial, 129600 (3)
Geleophysic dysplasia 2, 614185 (3)
MASS syndrome, 604308 (3)
Marfan lipodystrophy syndrome, 616914 (3)
Marfan syndrome, 154700 (3)
Stiff skin syndrome, 184900 (3)
Weill-Marchesani syndrome 2, dominant, 608328 (3)
GATM Cerebral creatine deficiency syndrome 3, 612718 (3)
HERC1 Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 (3)
SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
SORD ?Cataract, congenital (2)
TCF12 Craniosynostosis 3, 615314 (3)
TGM5 Peeling skin syndrome 2, 609796 (3)
TRPM7 {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, 105500 (3)
VPS13C Parkinson disease 23, autosomal recessive, early onset, 616840 (3)

Genes at Clinical Genomics Database

ACTC1, ALDH1A3, AP4E1, CAPN3, CHSY1, FAN1, FBN1, GATM, SLC12A6, TCF12, TGM5, VPS13C, VPS39,
ACTC1 Atrial septal defect 5
Left ventricular noncompaction
Cardiomyopathy, restrictive
Cardiomyopathy, familial hypertrophic 11
Cardiomyopathy, dilated , 1R
ALDH1A3 Microphthalmia, isolated 8
AP4E1 Spastic paraplegia 51, autosomal recessive
Stuttering, familial persistent, 1
CAPN3 Eosinophilic myositis
Muscular dystrophy, limb-girdle, type 2A
CHSY1 Temtamy preaxial brachydactyly syndrome
FAN1 Interstitial nephritis, karyomegalic
FBN1 Marfan lipodystrophy syndrome
Shprintzen-Goldberg syndrome
MASS syndrome
Marfan syndrome
GATM Cerebral creatine deficiency syndrome 3
SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome)
TCF12 Craniosynostosis 3
TGM5 Peeling skin syndrome 2
VPS13C Parkinson disease 23, autosomal recessive, early onset
VPS39 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 4517
Number of Genes: 62

Export to: CSV

AC105020.1

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 15 . 75971117 78.51 C T PASS 0/1 29 SYNONYMOUS_CODING LOW None None None None None None None

ACSBG1

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 15 . 78501579 334.53 C T PASS 0/1 11 None None None None None None None None None None

ACTC1

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 15 . 35084632 8204.57 T G PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.95 0.17 None None None None None None None

ADAMTSL3

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 15 . 84657523 1694.21 G T PASS 0/1 12 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.47 0.03 None None None None None None None

ALDH1A3

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 15 rs749061521
dbSNP
101427879 963.0 C T PASS 1/1 5 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ANKDD1A

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 15 . 65204137 12926.43 T G PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.15 None None None None None None None

AP4E1

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 15 . 51242056 24.34 G T PASS 0/1 6 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 51242350 1320.72 C A PASS 1/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None

ARHGAP11B

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 15 . 30925709 38692.39 A G PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.97 None None None None None None None

ATP8B4

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 15 . 50226238 58.7 T C PASS 0/1 10 SYNONYMOUS_CODING LOW None None None None None None None

C15orf59

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 15 . 74032841 11460.45 A G PASS 0/1 5 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.76 None None None None None None None

CAPN3

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 15 . 42691725 3321.0 A G PASS 1/1 116 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.66 0.99 -1.43 None None None None None None None

CASC5

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 15 . 40901076 37310.94 T C PASS 1/1 46 SYNONYMOUS_CODING LOW None None None None None None None

CCDC33

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 15 . 74573099 63825.02 C T PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.99 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 74573068 39207.29 G A PASS 0/1 51 SYNONYMOUS_CODING LOW None None None None None None None

CHRM5

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 15 . 34356446 3457.4 T A PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.79 1.55 None None None None None None None

CHRNA3

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 15 . 78893659 7849.36 A G PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32 0.01 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 78893665 7382.36 A G PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19 0.83 None None None None None None None

CHRNB4

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 15 . 78933471 1347.43 CT C PASS 0/1 69 FRAME_SHIFT HIGH None None None None None None None

CHSY1

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 15 . 101775533 10851.8 A G PASS 0/1 43 SYNONYMOUS_CODING LOW None None None None None None None

CILP

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 15 . 65490113 71534.98 A AT PASS 0/1 10 FRAME_SHIFT HIGH None None None None None None None

CYFIP1

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 15 . 22945116 4826.32 G A PASS 0/1 26 SYNONYMOUS_CODING LOW None None None None None None None

EMC4

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 15 . 34520770 24176.19 C T PASS 0/1 123 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13 0.82 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 34520668 33861.65 C T PASS 0/1 191 STOP_GAINED HIGH NONSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 34520631 36668.24 C T PASS 0/1 178 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None

EXD1

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 15 . 41509314 1637.23 G T PASS 0/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.00 None None None None None None None

FAN1

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 15 . 31222829 598.71 T A PASS 0/1 44 SYNONYMOUS_CODING LOW SILENT None None None None None None None

FBN1

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 15 . 48805819 37960.69 C A PASS 0/1 11 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 48796001 15570.39 G A PASS 0/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 None None None None None None None

FSIP1

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 15 . 40030351 73291.94 G T PASS 1/1 42 SYNONYMOUS_CODING LOW None None None None None None None

GATM

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 15 . 45658687 2375.47 C A PASS 0/1 38 SYNONYMOUS_CODING LOW None None None None None None None

GOLGA6L19

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 15 . 83011535 17485.72 A G PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE MISSENSE -0.88 None None None None None None None

GOLGA6L4

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 15 . 84908587 3211.99 GC GCC,G PASS 0/1 22 FRAME_SHIFT HIGH None None None None None None None

HERC1

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 15 . 63922755 974.75 G C PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.43 None None None None None None None

INO80

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 15 . 41365643 326.53 TA T PASS 0/1 21 FRAME_SHIFT HIGH None None None None None None None

IQGAP1

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 15 . 90984840 54996.86 C G PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11 0.01 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 91017137 18518.22 G T PASS 0/1 23 SYNONYMOUS_CODING LOW SILENT None None None None None None None

IREB2

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 15 . 78764184 2159.53 TC T PASS 1/1 2 FRAME_SHIFT HIGH None None None None None None None

LEO1

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 15 . 52242147 298178.0 G A PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

MAN2C1

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 15 . 75648956 2311.57 G A PASS 0/1 16 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.97 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 75656908 410.67 G GAGC PASS 0/1 23 CODON_INSERTION MODERATE None None None None None None None

MGA

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 15 . 42000334 6853.72 T C PASS 1/1 28 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

MYO9A

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 15 . 72170490 921.25 T C PASS 0/1 12 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26 1.00 None None None None None None None

NIPA2

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 15 . 23006447 1827.33 C T PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

NTRK3

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 15 . 88472519 1911.86 A C PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

PAK6

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 15 . 40564790 112828.75 C T PASS 1/1 118 SYNONYMOUS_CODING LOW SILENT None None None None None None None

PDE8A

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 15 . 85669602 124.63 C A PASS 0/1 8 SYNONYMOUS_CODING LOW SILENT None None None None None None None

PEAK1

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 15 . 77471885 10256.35 ATT AT,A PASS 0/1 19 FRAME_SHIFT HIGH None None None None None None None

PLA2G4E

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 15 . 42287624 86028.89 T C PASS 1/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12 0.98 None None None None None None None

PPIP5K1

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 15 . 43828361 174172.41 T G PASS 1/1 27 None None None 1.56 None None None None None None None

RASGRF1

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 15 . 79294019 2031.12 T C PASS 1/1 60 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.28 0.02 None None None None None None None

RFX7

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 15 . 56388667 10148.89 G A PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96 0.05 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 56388746 15169.28 T C PASS 1/1 2 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

RPAP1

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 15 . 41819100 11554.69 C G PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.94 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 41823228 52096.99 A G PASS 1/1 58 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

SECISBP2L

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 15 . 49329806 118.84 TAA T PASS 1/1 3 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 49329916 434.4 T C PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

SLC12A6

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 15 . 34532890 6217.96 T A PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13 0.07 3.88 None None None None None None None

SLC27A2

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 15 . 50489766 4417.39 T A,* PASS 0/1 8 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.09 0.12 None None None None None None None

SNUPN

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 15 . 75890850 12639.67 T A PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.52 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 75899625 27445.82 T C PASS 0/1 10 SYNONYMOUS_CODING LOW None None None None None None None

SNX33

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 15 . 75941751 2868.21 A G PASS 1/1 61 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.41 0.06 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 75941885 655.22 A C PASS 0/1 69 SYNONYMOUS_CODING LOW None None None None None None None

SORD

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 15 . 45361169 3936.49 G A PASS 1/1 137 SYNONYMOUS_CODING LOW None None None None None None None

SPTBN5

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 15 . 42145513 62675.72 T C PASS 0/1 17 SYNONYMOUS_CODING LOW None None None None None None None

TCF12

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 15 . 57544625 16053.58 G A PASS 1/1 27 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 57543568 599.45 C G PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 None None None None None None None

TGM5

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 15 . 43525881 34678.29 G A PASS 0/1 21 SYNONYMOUS_CODING LOW 1.00 None None None None None None None

TMOD3

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 15 . 52194138 25006.82 G A PASS 0/1 11 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 52192392 1016.27 G A PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08 0.55 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 52194140 5726.57 T C PASS 0/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

TRPM7

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 15 . 50925164 44001.72 T C PASS 0/1 150 SYNONYMOUS_CODING LOW 0.39 None None rs2306331 3 not_specified 0 None

TYRO3

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 15 . 41857274 6743.39 T C PASS 1/1 44 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 1.00 -1.30 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 41857308 4929.23 G C PASS 1/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.99 2.62 None None None None None None None

VPS13C

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 15 . 62242565 1606.29 A T,* PASS 0/1 42 SYNONYMOUS_CODING LOW None None None None None None None

VPS18

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 15 . 41191438 164785.9 C T PASS 1/1 37 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 41191433 161323.93 T TA PASS 1/1 32 FRAME_SHIFT HIGH None None None None None None None

VPS39

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 15 . 42465961 919.69 T A PASS 1/1 6 SYNONYMOUS_CODING LOW None None None None None None None

ZNF106

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 15 . 42729430 61709.69 C T PASS 1/1 74 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 42731284 69550.53 T C PASS 1/1 47 SYNONYMOUS_CODING LOW SILENT 1.15 None None rs12917189 2 Congenital_dyserythropoietic_anemia,_type_I 0 None
View 23 recalibrated filtered postcgp gqfiltered 15 . 42731865 36066.69 C T PASS 1/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.17 0.12 None None None None None None None

ZNF774

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 15 . 90905785 15918.35 A G PASS 0/1 121 None None None 0.00 None None None None None None None
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 15 . 101655983 1033.65 C T PASS 0/1 63 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 101652345 25943.69 A C PASS 1/1 74 None None None -0.63 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 101652337 6405.12 T G PASS 0/1 75 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 101652215 7051.47 C T PASS 0/1 38 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 101651831 20505.15 A G PASS 0/1 29 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 101651666 126482.08 G A PASS 1/1 29 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 101641980 450.28 A G PASS 0/1 24 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 101489392 479.62 C G PASS 0/1 37 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 101489314 141.55 C A PASS 0/1 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 101489270 82.96 C CG PASS 0/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 101463237 2890.05 C T PASS 1/1 49 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 101431183 13398.51 T C PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 101430131 13874.92 T C PASS 0/1 38 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 101430118 16724.36 G T PASS 0/1 48 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 101430103 57206.2 G A PASS 1/1 59 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 101429886 4444.27 C T PASS 0/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 101389620 75789.66 G C PASS 1/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 101389427 59313.28 ATT A,AT PASS 1/2 65 None None None None None None None None None None