+ Filter Options

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 2

Genes:
CDK5RAP3, ECHDC2,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 25
Number of Genes: 2

Export to: CSV
  • Page 1 of 1

CDK5RAP3
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 15001702300578a snp-1 17 rs2905846
dbSNP Clinvar 		46048592 2554.77 A G PASS 1/1 71 MOTIF[MA0062.2:Gabp] LOW None 0.69149 0.69150 0.30004 0.00 None None None None None None CDK5RAP3|0.244591627|32.06%

ECHDC2
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 15001702300578a snp-1 1 rs55836843
dbSNP Clinvar 		53387215 337.77 G A PASS 0/1 28 MOTIF[MA0062.2:Gabp] MODIFIER None 0.07169 0.07169 0.05245 0.12 0.00 None None None None None None ECHDC2|0.032103864|68.56%
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 15001702300578a snp-1 1 rs199596832
dbSNP Clinvar 		231376906 511.77 C G PASS 0/1 37 MOTIF[MA0062.2:Gabp] MODIFIER None None None None None None None C1orf131|0.010875103|80.19%
View 15001702300578a snp-1 4 rs2272745
dbSNP Clinvar 		4249974 230.77 C A PASS 0/1 24 MOTIF[MA0062.2:Gabp] LOW None 0.46126 0.46130 None None None None None None None
View 15001702300578a snp-1 10 rs2244396
dbSNP Clinvar 		43932479 167.9 A G PASS 1/1 5 MOTIF[MA0062.2:Gabp] MODIFIER None 0.99601 0.99600 None None None None None None ZNF487|0.002066386|90.81%
View 15001702300578a snp-1 11 rs71487219
dbSNP Clinvar 		207400 322.78 A G PASS 1/1 8 MOTIF[MA0062.2:Gabp] MODIFIER None 0.59265 0.59270 None None None None None None None
View 15001702300578a snp-1 13 rs7321688
dbSNP Clinvar 		115000365 74.77 C A PASS 0/1 5 MOTIF[MA0062.2:Gabp] MODIFIER None 0.31530 0.31530 None None None None None None CDC16|0.574269029|12.84%
View 15001702300578a snp-1 14 rs1056879
dbSNP Clinvar 		35591174 8000.77 T C PASS 1/1 234 MOTIF[MA0062.2:Gabp] LOW None 0.40635 0.40630 0.38052 None None None None None None PPP2R3C|0.414536753|19.89%,KIAA0391|0.115015231|48.33%
View 15001702300578a snp-1 14 rs17552038
dbSNP Clinvar 		74416945 2811.77 G C PASS 0/1 230 MOTIF[MA0062.2:Gabp] LOW None 0.09764 0.09764 None None None None None None FAM161B|0.032647327|68.31%,COQ6|0.155475963|42.22%
View 15001702300578a snp-1 17 rs2644711
dbSNP Clinvar 		767395 1286.77 G A PASS 0/1 164 MOTIF[MA0062.2:Gabp] MODIFIER None None None None None None None NXN|0.594772524|11.95%
View 15001702300578a snp-1 17 rs2644712
dbSNP Clinvar 		767396 1292.77 G C PASS 0/1 160 MOTIF[MA0062.2:Gabp] MODIFIER None None None None None None None NXN|0.594772524|11.95%
View 15001702300578a snp-1 17 rs74504320
dbSNP Clinvar 		6554921 8899.77 A G PASS 1/1 256 MOTIF[MA0062.2:Gabp] MODIFIER None 0.04812 0.04812 0.09001 None None None None None None MED31|0.581573659|12.49%
View 15001702300578a snp-1 1 rs2251098
dbSNP Clinvar 		3566706 30.79 G A PASS 0/1 3 MOTIF[MA0062.2:Gabp] MODIFIER None 0.70727 0.70730 None None None None None None WRAP73|0.036942374|66.8%
View 15001702300578a snp-1 20 rs3737086
dbSNP Clinvar 		3870417 1168.77 C A PASS 0/1 69 MOTIF[MA0062.2:Gabp] LOW None 0.08606 0.08606 0.05181 None None None None None None PANK2|0.283390234|28.84%
View 15001702300578a snp-1 7 rs17553434
dbSNP Clinvar 		44084210 54.56 A G PASS 1/1 2 MOTIF[MA0062.2:Gabp] MODIFIER None 0.26597 0.26600 None None None None None None None
View 15001702300578a snp-1 11 rs734094
dbSNP Clinvar 		2323220 675.77 G A PASS 1/1 19 MOTIF[MA0062.2:Gabp] LOW None 0.36582 0.36580 None None None None None None C11orf21|0.000478003|98.55%
View 15001702300578a snp-1 11 rs2156785
dbSNP Clinvar 		77850824 168.9 C T PASS 1/1 5 MOTIF[MA0062.2:Gabp] LOW None 0.31909 0.31910 None None None None None None None
View 15001702300578a snp-1 17 rs6502330
dbSNP Clinvar 		13972811 415.77 G A PASS 1/1 13 MOTIF[MA0062.2:Gabp] MODIFIER None 0.99561 0.99560 None None None None None None None
View 15001702300578a snp-1 19 rs45528635
dbSNP Clinvar 		16653249 335.77 G A PASS 0/1 23 MOTIF[MA0062.2:Gabp] LOW None 0.09026 0.09026 None None None None None None CHERP|0.091471608|52.95%
View 15001702300578a snp-1 5 rs2305725
dbSNP Clinvar 		167913459 872.77 C A PASS 0/1 67 MOTIF[MA0062.2:Gabp] LOW None 0.07428 0.07428 0.12460 None None None None None None RARS|0.932338874|2.73%
View 15001702300578a snp-1 20 rs3746792
dbSNP Clinvar 		389456 1555.77 C T PASS 1/1 48 MOTIF[MA0062.2:Gabp] LOW None 0.40415 0.40420 0.45403 None None None None None None RBCK1|0.095045325|52.09%
View 15001702300578a snp-1 1 rs839752
dbSNP Clinvar 		43855546 465.77 A G PASS 0/1 41 MOTIF[MA0062.2:Gabp] MODIFIER None 0.22804 0.22800 None None None None None None None
View 15001702300578a snp-1 5 rs4565199
dbSNP Clinvar 		149737221 428.77 T G PASS 1/1 13 MOTIF[MA0062.2:Gabp] MODIFIER None 0.99940 0.99940 None None None None None None TCOF1|0.029215491|69.76%
View 15001702300578a snp-1 7 rs2247628
dbSNP Clinvar 		50132913 22.58 C T PASS 1/1 2 MOTIF[MA0062.2:Gabp] LOW None 0.77756 0.77760 None None None None None None ZPBP|0.046697117|63.69%
View 15001702300578a snp-1 11 rs72850544
dbSNP Clinvar 		9336093 488.77 C T PASS 1/1 15 MOTIF[MA0062.2:Gabp] LOW None 0.07668 0.07668 None None None None None None TMEM41B|0.338883449|24.91%
  • Page 1 of 1