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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
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+ Genes

Genes:

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 10
Number of Genes: 0

Export to: CSV
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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 2 rs1822618
dbSNP Clinvar 		55278082 238.77 G C PASS 0/1 0 MOTIF[MA0024.1:E2F1] LOW None 0.09545 0.09545 None None None None None None RTN4|0.537375266|14.33%
View p0085_filtered 3 rs17523373
dbSNP Clinvar 		125802961 188.78 G A VQSRTrancheSNP90.00to99.00 1/1 0 MOTIF[MA0024.1:E2F1] LOW None 0.62540 0.62540 None None None None None None SLC41A3|0.008265436|82.38%
View p0085_filtered 4 rs2241819
dbSNP Clinvar 		187112826 317.77 A G PASS 1/1 0 MOTIF[MA0024.1:E2F1] LOW None 0.43550 0.43550 None None None None None None CYP4V2|0.027940176|70.46%
View p0085_filtered 11 rs12146541
dbSNP Clinvar 		57508678 187.77 G C PASS 0/1 0 MOTIF[MA0024.1:E2F1] LOW None 0.17812 0.17810 None None None None None None None
View p0085_filtered 12 rs2306204
dbSNP Clinvar 		69753530 520.77 C A PASS 0/1 0 MOTIF[MA0024.1:E2F1] LOW None 0.11981 0.11980 None None None None None None YEATS4|0.868214619|4.27%
View p0085_filtered 18 rs11663049
dbSNP Clinvar 		12991393 1560.77 T C PASS 1/1 0 MOTIF[MA0024.1:E2F1] LOW None 0.72085 0.72080 None None None None None None CEP192|0.030811627|69.03%
View p0085_filtered 1 rs1200128
dbSNP Clinvar 		169076212 1038.77 G C VQSRTrancheSNP99.00to99.90 1/1 0 MOTIF[MA0024.1:E2F1] LOW None 0.11741 0.11740 0.22777 None None None None None None ATP1B1|0.11594303|48.14%
View p0085_filtered 1 rs55906130
dbSNP Clinvar 		179335058 375.77 C T PASS 0/1 0 MOTIF[MA0024.1:E2F1] LOW None 0.47544 0.47540 None None None None None None AXDND1|0.018165173|75.2%
View p0085_filtered 3 rs4973904
dbSNP Clinvar 		40498933 1897.77 A G VQSRTrancheSNP90.00to99.00 1/1 0 MOTIF[MA0024.1:E2F1] LOW None 0.97085 0.97080 0.02988 None None None None None None RPL14|0.064797243|58.69%
View p0085_filtered 5 rs329120
dbSNP Clinvar 		133861756 1096.77 C T PASS 0/1 0 MOTIF[MA0024.1:E2F1] LOW None 0.41973 0.41970 None None None None None None JADE2|0.236172174|32.8%
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