+ 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 3

Genes:
KDM5D, TBL1Y, ZFY,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 87
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 p0085_filtered Y . 21869481 46.77 A G VQSRTrancheSNP99.00to99.90 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.55 0.00 None None None None None None KDM5D|0.002449528|89.81%
View p0085_filtered Y . 21869490 46.77 G A VQSRTrancheSNP99.00to99.90 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.02 None None None None None None KDM5D|0.002449528|89.81%
View p0085_filtered Y . 21869489 46.77 T C VQSRTrancheSNP99.00to99.90 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None KDM5D|0.002449528|89.81%
View p0085_filtered Y . 21869475 46.77 A G VQSRTrancheSNP99.00to99.90 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.27 0.00 None None None None None None KDM5D|0.002449528|89.81%

TBL1Y
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 p0085_filtered Y . 6939847 43.77 T C VQSRTrancheSNP99.00to99.90 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None TBL1Y|0.022828135|72.79%
View p0085_filtered Y . 6939833 43.77 A C VQSRTrancheSNP99.00to99.90 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.04 0.70 None None None None None None TBL1Y|0.022828135|72.79%
View p0085_filtered Y . 6939834 43.77 A G VQSRTrancheSNP99.00to99.90 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.03 None None None None None None TBL1Y|0.022828135|72.79%
View p0085_filtered Y . 6939821 43.77 C T VQSRTrancheSNP99.00to99.90 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None TBL1Y|0.022828135|72.79%
View p0085_filtered Y . 6939848 43.77 G A VQSRTrancheSNP99.00to99.90 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.95 0.00 None None None None None None TBL1Y|0.022828135|72.79%
View p0085_filtered Y rs767514646
dbSNP Clinvar 		6939817 43.77 C T VQSRTrancheSNP99.00to99.90 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None TBL1Y|0.022828135|72.79%
View p0085_filtered Y . 6939820 43.77 T C VQSRTrancheSNP99.00to99.90 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None TBL1Y|0.022828135|72.79%

ZFY
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 p0085_filtered Y . 2829432 31.77 A G VQSRTrancheSNP99.00to99.90 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.70 0.00 None None None None None None None
View p0085_filtered Y . 2829389 80.77 C T VQSRTrancheSNP99.00to99.90 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None None
View p0085_filtered Y . 2829384 80.77 C G VQSRTrancheSNP99.00to99.90 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 1.00 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 p0085_filtered Y . 16954570 362.74 A AT PASS 1/1 0 None None None None None None None None None NLGN4Y|0.004668477|86.25%
View p0085_filtered Y . 16954585 325.74 A AG PASS 1/1 0 None None None None None None None None None NLGN4Y|0.004668477|86.25%
View p0085_filtered Y rs72619863
dbSNP Clinvar 		10034327 286.8 G C VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs915934384
dbSNP Clinvar 		10034328 74.77 G A VQSRTrancheSNP99.00to99.90 0/1 0 None None None None None None None None None None
View p0085_filtered Y rs113266380
dbSNP Clinvar 		10034333 286.8 C T VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs919541634
dbSNP Clinvar 		10034341 241.84 G A VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs80038678
dbSNP Clinvar 		10037119 241.84 A G VQSRTrancheSNP90.00to99.00 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs75001858
dbSNP Clinvar 		10037125 286.8 G C VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs75577661
dbSNP Clinvar 		10037129 241.84 C A VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs76575025
dbSNP Clinvar 		10037133 241.84 G A VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs80335704
dbSNP Clinvar 		9930105 46.77 G C VQSRTrancheSNP99.90to100.00 0/1 0 None None None None None None None None None None
View p0085_filtered Y rs370916748
dbSNP Clinvar 		9930106 54.56 G A VQSRTrancheSNP99.90to100.00 0/1 0 None None None None None None None None None None
View p0085_filtered Y rs373070789
dbSNP Clinvar 		9930128 16.82 GC G PASS 0/1 0 None None None None None None None None None None
View p0085_filtered Y rs78698548
dbSNP Clinvar 		9930129 6.79 C T VQSRTrancheSNP99.90to100.00 0/1 0 None None None None None None None None None None
View p0085_filtered Y rs375457659
dbSNP Clinvar 		9930149 6.79 C T VQSRTrancheSNP99.90to100.00 0/1 0 None None None None None None None None None None
View p0085_filtered Y rs80225156
dbSNP Clinvar 		9952617 196.9 T C VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs75772981
dbSNP Clinvar 		10037150 331.78 C T VQSRTrancheSNP90.00to99.00 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs77965694
dbSNP Clinvar 		9952636 136.77 G A VQSRTrancheSNP99.90to100.00 0/1 0 None None None None None None None None None None
View p0085_filtered Y rs111330021
dbSNP Clinvar 		9952621 136.77 T A VQSRTrancheSNP99.90to100.00 0/1 0 None None None None None None None None None None
View p0085_filtered Y rs77255365
dbSNP Clinvar 		10037153 331.78 A C VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs77983092
dbSNP Clinvar 		10037172 376.78 C T VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs78803838
dbSNP Clinvar 		10037173 376.78 T G VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs72619868
dbSNP Clinvar 		10037189 247.77 A G VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y . 16954526 219.84 T C VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None NLGN4Y|0.004668477|86.25%
View p0085_filtered Y . 16954532 219.84 C T VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None NLGN4Y|0.004668477|86.25%
View p0085_filtered Y . 16954543 277.77 T TTGTG PASS 1/1 0 None None None None None None None None None NLGN4Y|0.004668477|86.25%
View p0085_filtered Y . 16954548 331.78 T C VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None NLGN4Y|0.004668477|86.25%
View p0085_filtered Y . 16954550 331.78 A G VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None NLGN4Y|0.004668477|86.25%
View p0085_filtered Y . 16954559 331.78 T C VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None NLGN4Y|0.004668477|86.25%
View p0085_filtered Y . 16954560 331.78 A G VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None NLGN4Y|0.004668477|86.25%
View p0085_filtered Y . 16954561 331.78 A G VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None NLGN4Y|0.004668477|86.25%
View p0085_filtered Y . 16954563 371.78 A G VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None NLGN4Y|0.004668477|86.25%
View p0085_filtered Y . 13478010 152.03 G A VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y . 13478017 152.03 C T VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y . 13478027 241.84 A G VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs112441080
dbSNP Clinvar 		13478033 241.84 G A VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs76437112
dbSNP Clinvar 		13478034 241.84 A G VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs753528924
dbSNP Clinvar 		13478040 241.84 C T VQSRTrancheSNP99.90to100.00 1/1 0 None None None None None None None None None None
View p0085_filtered Y . 13478041 241.84 T G VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs75057356
dbSNP Clinvar 		13478048 241.84 C T VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs112967301
dbSNP Clinvar 		13478053 241.84 A C VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y . 13478054 241.84 G A VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y . 13478056 241.84 G A VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y . 13478057 241.84 A T VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y . 16954514 200.84 C A VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None NLGN4Y|0.004668477|86.25%
View p0085_filtered Y rs78204639
dbSNP Clinvar 		9952652 241.84 T C VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs74766734
dbSNP Clinvar 		9952676 241.84 G A VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs111438360
dbSNP Clinvar 		9952688 196.9 T G VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs77043363
dbSNP Clinvar 		9952698 196.9 T C VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs77257912
dbSNP Clinvar 		10031693 196.9 A G VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs77556035
dbSNP Clinvar 		10031695 196.9 A G VQSRTrancheSNP90.00to99.00 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs79686072
dbSNP Clinvar 		10031717 196.9 A G VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs78615474
dbSNP Clinvar 		10031719 196.9 A C VQSRTrancheSNP90.00to99.00 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs72619862
dbSNP Clinvar 		10033999 719.77 G A VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs76432430
dbSNP Clinvar 		10034011 611.77 C G VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs74404714
dbSNP Clinvar 		10034012 611.77 T C VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs75245257
dbSNP Clinvar 		10034016 511.77 G A VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs76260522
dbSNP Clinvar 		10034017 511.77 A C VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs916137578
dbSNP Clinvar 		10034025 196.9 C T VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y rs758448565
dbSNP Clinvar 		10037790 46.77 C T VQSRTrancheSNP99.90to100.00 0/1 0 None None None None None None None None None None
View p0085_filtered Y rs5005399
dbSNP Clinvar 		10037791 46.77 C G VQSRTrancheSNP99.00to99.90 0/1 0 None None None None None None None None None None
View p0085_filtered Y rs5005398
dbSNP Clinvar 		10037797 110.77 T C VQSRTrancheSNP99.00to99.90 0/1 0 None None None None None None None None None None
View p0085_filtered Y rs5005397
dbSNP Clinvar 		10037807 110.77 T C VQSRTrancheSNP99.00to99.90 0/1 0 None None None None None None None None None None
View p0085_filtered Y rs5005396
dbSNP Clinvar 		10037819 34.77 T C VQSRTrancheSNP99.00to99.90 0/1 0 None None None None None None None None None None
View p0085_filtered Y rs779238536
dbSNP Clinvar 		10037842 24.78 A G VQSRTrancheSNP99.00to99.90 0/1 0 None None None None None None None None None None
View p0085_filtered Y rs75411151
dbSNP Clinvar 		13451346 79.03 A G VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None None
View p0085_filtered Y . 16954616 376.78 A G VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None NLGN4Y|0.004668477|86.25%
View p0085_filtered Y rs371791430
dbSNP Clinvar 		16954623 421.77 T C VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None NLGN4Y|0.004668477|86.25%
View p0085_filtered Y . 16954624 421.77 G T VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None NLGN4Y|0.004668477|86.25%
View p0085_filtered Y . 16954639 331.78 T A VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None NLGN4Y|0.004668477|86.25%
View p0085_filtered Y . 16954649 331.78 C G VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None NLGN4Y|0.004668477|86.25%
View p0085_filtered Y . 16954656 196.9 C T VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None NLGN4Y|0.004668477|86.25%
View p0085_filtered Y . 16954666 196.9 T A VQSRTrancheSNP99.00to99.90 1/1 0 None None None None None None None None None NLGN4Y|0.004668477|86.25%
  • Page 1 of 1