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 GROUPS:

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MUTATION TYPE:
 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
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
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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

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EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

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CADD

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+ Genes 1

Genes:
IQCE,

+ Genes associated with diseases 1

Genes at Omim

IQCE,
IQCE ?Polydactyly, postaxial, type A7, 617642 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 8
Number of Genes: 1

Export to: CSV
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IQCE
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 4k20002_01 gatk 7 rs61729413
dbSNP Clinvar 		2646796 1222.77 G A . 0/1 72 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10224 0.10220 0.12442 1.00 0.00 None None None None None None IQCE|0.003370875|87.98%
View 4k20002_01 gatk 7 rs2293407
dbSNP Clinvar 		2645552 1187.77 A G . 1/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.41394 0.41390 0.30416 0.32 0.00 None None None None None None IQCE|0.003370875|87.98%
View 4k20002_01 gatk 7 rs10950797
dbSNP Clinvar 		2645526 243.77 G A . 0/1 28 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.25499 0.25500 0.12235 0.75 0.00 None None None None None None IQCE|0.003370875|87.98%
View 4k20002_01 gatk 7 rs2293405
dbSNP Clinvar 		2644607 538.77 G T . 0/1 72 SYNONYMOUS_CODING LOW SILENT 0.10643 0.10640 0.12716 None None None None None None IQCE|0.003370875|87.98%
View 4k20002_01 gatk 7 rs2293404
dbSNP Clinvar 		2644519 901.77 C T . 1/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.41174 0.41170 0.30157 0.45 0.33 None None None None None None IQCE|0.003370875|87.98%
View 4k20002_01 gatk 7 rs2917751
dbSNP Clinvar 		2611878 1578.77 T C . 0/1 119 SYNONYMOUS_CODING LOW SILENT 0.66134 0.66130 0.27714 None None None None None None IQCE|0.003370875|87.98%
View 4k20002_01 gatk 7 rs3735109
dbSNP Clinvar 		2649704 2255.77 T G . 1/1 72 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38200 0.71 0.00 None None None None None None IQCE|0.003370875|87.98%
View 4k20002_01 gatk 7 rs1056568
dbSNP Clinvar 		2646950 2667.77 T G . 1/1 80 None None None 0.41394 0.41390 None None None None None None IQCE|0.003370875|87.98%
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