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: 1

Export to: CSV

KIAA1683

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 hp37_1_filt_10x 19 rs1469023
dbSNP
18378219 333.77 A G PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.56150 0.56150 0.46655 0.36 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs12609001
dbSNP
18377761 173.77 A G PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15236 0.15240 0.10359 0.08 0.05 None None None None None None None
View hp37_1_filt_10x 19 rs8103906
dbSNP
18377647 166.77 G C PASS 0/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.56130 0.56130 0.46871 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs8104533
dbSNP
18377496 477.77 C G PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.54453 0.54450 0.49085 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs3746186
dbSNP
18377274 339.77 A G PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.54373 0.54370 0.49039 0.32 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs2277922
dbSNP
18376522 56.77 T G PASS 0/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.56110 0.56110 0.46748 0.75 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs61740752
dbSNP
18376517 52.77 C T PASS 0/1 21 SYNONYMOUS_CODING LOW SILENT 0.15196 0.15200 0.10364 None None None None None None None
View hp37_1_filt_10x 19 rs8110972
dbSNP
18376407 259.77 T A PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.54413 0.54410 0.49085 0.24 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs12608777
dbSNP
18375882 415.77 G C PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15196 0.15200 0.10423 0.05 0.46 None None None None None None None
View hp37_1_filt_10x 19 rs2277921
dbSNP
18375846 456.77 G A PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30012 0.30010 0.25081 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs8103177
dbSNP
18375815 521.77 G A PASS 0/1 60 SYNONYMOUS_CODING LOW SILENT 0.30012 0.30010 0.25054 None None None None None None None
View hp37_1_filt_10x 19 rs8102923
dbSNP
18375608 291.77 G A PASS 0/1 34 SYNONYMOUS_CODING LOW SILENT 0.30032 0.30030 0.24310 None None None None None None None
View hp37_1_filt_10x 19 rs999813
dbSNP
18368810 588.77 G T PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.55112 0.55110 0.47119 0.17 0.00 None None None None None None None