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 CHR:

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VARIANT EFFECT FUNCTIONAL CLASS IMPACT
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EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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FREQUENCIES

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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

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CADD

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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: 32
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 2-pd 22 rs4468912
dbSNP Clinvar 		33961636 71.41 T C PASS 1/1 6 MOTIF[MA0093.1:USF1] MODIFIER 0.45168 0.45170 None None None None None None LARGE|0.874823317|4.11%
View 2-pd 22 rs756633
dbSNP Clinvar 		23500553 63.28 A T PASS 1/1 3 MOTIF[MA0093.1:USF1] MODIFIER 0.54852 0.54850 None None None None None None RAB36|0.022182246|73.09%
View 2-pd 21 rs2236492
dbSNP Clinvar 		47551164 33.77 G A PASS 0/1 9 MOTIF[MA0093.1:USF1] LOW 0.13179 0.13180 None None None None None None COL6A2|0.07894144|55.42%
View 2-pd 21 rs4458293
dbSNP Clinvar 		47540200 61.28 C T PASS 1/1 3 MOTIF[MA0093.1:USF1] LOW 0.55931 0.55930 None None None None None None COL6A2|0.07894144|55.42%
View 2-pd 19 rs7257715
dbSNP Clinvar 		17518292 119.84 C T PASS 1/1 6 MOTIF[MA0093.1:USF1] LOW 0.87280 0.87280 None None None None None None MVB12A|0.023768005|72.31%
View 2-pd 19 rs148548210
dbSNP Clinvar 		7854459 98.73 TG T PASS 0/1 26 MOTIF[MA0093.1:USF1] LOW 0.02576 0.02576 None None None None None None None
View 2-pd 19 rs2392651
dbSNP Clinvar 		3374842 62.28 G C PASS 1/1 3 MOTIF[MA0093.1:USF1] LOW 0.99541 0.99540 None None None None None None NFIC|0.769311824|6.61%
View 2-pd 17 rs4793661
dbSNP Clinvar 		48620517 48.74 G A PASS 1/1 2 MOTIF[MA0093.1:USF1] LOW 0.08227 0.08227 None None None None None None EPN3|0.250234339|31.51%,SPATA20|0.092296686|52.74%
View 2-pd 16 rs3852757
dbSNP Clinvar 		1001966 52.77 C T PASS 0/1 3 MOTIF[MA0093.1:USF1] LOW None None None None None None LMF1|0.017657655|75.51%
View 2-pd 10 rs1638438
dbSNP Clinvar 		118929983 71.03 C T PASS 1/1 4 MOTIF[MA0093.1:USF1] LOW 0.34685 0.34680 None None None None None None None
View 2-pd 5 rs397720891
dbSNP Clinvar 		171763533 223.77 G GT PASS 1/1 7 MOTIF[MA0093.1:USF1] LOW 0.56110 0.56110 None None None None None None SH3PXD2B|0.062507541|59.2%
View 2-pd 5 rs10073942
dbSNP Clinvar 		16731947 60.28 C T PASS 1/1 3 MOTIF[MA0093.1:USF1] LOW 0.07827 0.07827 None None None None None None MYO10|0.141886283|44.16%
View 2-pd 3 rs34640900
dbSNP Clinvar 		197274685 49.77 C T PASS 0/1 7 MOTIF[MA0093.1:USF1] LOW 0.15855 0.15850 None None None None None None BDH1|0.126065757|46.47%
View 2-pd 1 rs5777090,rs373594719
dbSNP Clinvar 		112563012 51.7 CGT C PASS 1/1 2 MOTIF[MA0093.1:USF1] LOW 0.64717 0.64720 None None None None None None None
View 2-pd 1 rs57430498
dbSNP Clinvar 		90377253 84.25 C CT PASS 1/1 3 MOTIF[MA0093.1:USF1] LOW 0.28135 0.28130 None None None None None None LRRC8D|0.46706983|17.31%
View 2-pd 1 rs2490951
dbSNP Clinvar 		39696647 101.03 G A PASS 1/1 4 MOTIF[MA0093.1:USF1] MODIFIER 0.95647 0.95650 None None None None None None MACF1|0.867662396|4.28%
View 2-pd 17 rs5026201
dbSNP Clinvar 		21234260 49.77 T C PASS 0/1 4 MOTIF[MA0093.1:USF1] MODIFIER None None None None None None None
View 2-pd 17 rs5026200
dbSNP Clinvar 		21234259 49.77 G A PASS 0/1 4 MOTIF[MA0093.1:USF1] LOW None None None None None None None
View 2-pd 16 rs8057145
dbSNP Clinvar 		75256251 71.03 A G PASS 1/1 4 MOTIF[MA0093.1:USF1] MODIFIER 0.93650 0.93650 None None None None None None CTRB1|0.00299656|88.64%
View 2-pd 14 rs1092056
dbSNP Clinvar 		58175575 41.77 C T PASS 0/1 3 MOTIF[MA0093.1:USF1] LOW 0.42931 0.42930 None None None None None None SLC35F4|0.400412985|20.75%
View 2-pd 11 rs11221364
dbSNP Clinvar 		128453010 52.74 C T PASS 1/1 2 MOTIF[MA0093.1:USF1] LOW 0.20108 0.20110 None None None None None None ETS1|0.981958771|1.41%
View 2-pd 10 rs4074577
dbSNP Clinvar 		123873325 161.8 A G PASS 1/1 7 MOTIF[MA0093.1:USF1] LOW 0.74820 0.74820 None None None None None None TACC2|0.06411227|58.85%
View 2-pd 9 rs74619030
dbSNP Clinvar 		132205437 107.28 C T PASS 1/1 3 MOTIF[MA0093.1:USF1] LOW None None None None None None None
View 2-pd 6 rs12199194
dbSNP Clinvar 		36671392 40.1 C T PASS 1/1 4 MOTIF[MA0093.1:USF1] LOW 0.09804 0.09804 None None None None None None None
View 2-pd 2 rs6146716,rs56226524
dbSNP Clinvar 		36824690 82.73 CG... C PASS 0/1 5 MOTIF[MA0093.1:USF1] LOW 0.85863 0.85860 None None None None None None FEZ2|0.221458357|34.26%
View 2-pd 1 rs7528811
dbSNP Clinvar 		180113970 61.28 G A PASS 1/1 3 MOTIF[MA0093.1:USF1] LOW 0.58746 0.58750 None None None None None None None
View 2-pd 11 rs3819108
dbSNP Clinvar 		117973576 271.77 G A PASS 0/1 19 MOTIF[MA0093.1:USF1] LOW 0.32308 0.32310 None None None None None None TMPRSS4|0.03882021|66.16%
View 2-pd 9 rs4443759
dbSNP Clinvar 		132388716 107.9 T C PASS 1/1 5 MOTIF[MA0093.1:USF1] MODIFIER 0.95088 0.95090 None None None None None None NTMT1|0.139033566|44.54%
View 2-pd 6 rs111624231
dbSNP Clinvar 		35109157 336.77 C A PASS 1/1 13 MOTIF[MA0093.1:USF1] MODIFIER 0.13658 0.13660 None None None None None None TCP11|0.018183187|75.17%
View 2-pd 4 rs3775893
dbSNP Clinvar 		8387007 47.78 G A PASS 0/1 4 MOTIF[MA0093.1:USF1] LOW 0.35603 0.35600 None None None None None None ACOX3|0.00758026|82.99%
View 2-pd 2 rs3087266
dbSNP Clinvar 		113889100 61.28 C T PASS 1/1 3 MOTIF[MA0093.1:USF1] LOW 0.32808 0.32810 None None None None None None IL1RN|0.11539686|48.22%
View 2-pd 1 rs12731385
dbSNP Clinvar 		1294287 134.85 C A PASS 0/1 8 MOTIF[MA0093.1:USF1] LOW 0.71166 0.71170 None None None None None None MXRA8|0.028438146|70.23%
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