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

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 13
Number of Genes: 3

Export to: CSV
  • Page 1 of 1

KDM5D

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 15ac02301_s1 genome Y . 21877606 9.8 C A LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None KDM5D|0.002449528|89.81%
View 15ac02301_s1 genome Y . 21877875 4.97 C A LowGQX;SB 0/1 2 STOP_GAINED HIGH None None None None None None None KDM5D|0.002449528|89.81%
View 15ac02301_s1 genome Y . 21877612 9.8 A T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.64 None None None None None None KDM5D|0.002449528|89.81%

NLGN4Y

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 15ac02301_s1 genome Y . 16941617 9.8 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 None None None None None None NLGN4Y|0.004668477|86.25%

PCDH11Y

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 15ac02301_s1 genome Y . 4967723 4.97 A G LowGQX;LowQD;SB 0/1 15 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.38 None None None None None None None
View 15ac02301_s1 genome Y . 4968647 9.8 A T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.48 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 15ac02301_s1 genome Y rs10465459
dbSNP Clinvar
21154323 587.13 G A PASS 1/1 22 None None None None None None None None None None
View 15ac02301_s1 genome Y rs52812045
dbSNP Clinvar
21154426 388.14 G A PASS 0/1 34 None None None None None None None None None None
View 15ac02301_s1 genome Y rs10465460
dbSNP Clinvar
21154466 886.51 T A PASS 1/1 32 None None None None None None None None None None
View 15ac02301_s1 genome Y rs17855271
dbSNP Clinvar
21154569 1123.47 A G PASS 1/1 51 None None None None None None None None None None
View 15ac02301_s1 genome Y rs79788321
dbSNP Clinvar
21154603 947.76 A C PASS 1/1 40 None None None None None None None None None None
View 15ac02301_s1 genome Y rs2032636
dbSNP Clinvar
15027529 7.08 T G LowGQ;LowGQX;SB 1/1 1 None None None 0.98459 0.98460 0.03193 None None None None None None DDX3Y|0.016183527|76.33%
View 15ac02301_s1 genome Y rs13304344
dbSNP Clinvar
14958218 9.8 C T LowGQ;LowGQX;SB 1/1 1 None None None 0.98459 0.98460 0.03152 None None None None None None USP9Y|0.030327795|69.25%
  • Page 1 of 1