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: 15
Number of Genes: 1

Export to: CSV
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NAV2

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 sp16_multisample SP16_819 11 rs6483617
dbSNP Clinvar
19854088 168.8 G A PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.40575 0.40580 0.43284 1.00 0.00 None None None None None None NAV2|0.845516464|4.74%
View sp16_multisample SP16_819 11 rs11025310
dbSNP Clinvar
19901632 22.51 G A PASS 0/1 14 SYNONYMOUS_CODING LOW None 0.31190 0.31190 0.35388 None None None None None None NAV2|0.845516464|4.74%
View sp16_multisample SP16_819 11 rs1372989
dbSNP Clinvar
19955500 449.76 A G PASS 1/1 89 SYNONYMOUS_CODING LOW None 0.73343 0.73340 0.16205 None None None None None None NAV2|0.845516464|4.74%
View sp16_multisample SP16_819 11 rs1442710
dbSNP Clinvar
20089944 288.87 T C PASS 0/1 119 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.31410 0.31410 0.22936 None None None None None None NAV2|0.845516464|4.74%
View sp16_multisample SP16_819 11 rs2585773
dbSNP Clinvar
19970558 257.73 T C PASS 1/1 27 SYNONYMOUS_CODING LOW None 0.96306 0.96310 0.03435 None None None None None None NAV2|0.845516464|4.74%
View sp16_multisample SP16_819 11 rs2707084
dbSNP Clinvar
19970579 247.67 C T PASS 1/1 23 SYNONYMOUS_CODING LOW None 0.94309 0.94310 0.05345 None None None None None None NAV2|0.845516464|4.74%
View sp16_multisample SP16_819 11 rs3802800
dbSNP Clinvar
20065779 272.47 C G PASS 1/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.88139 0.88140 0.10872 0.22 0.00 None None None None None None NAV2|0.845516464|4.74%
View sp16_multisample SP16_819 11 rs7125647
dbSNP Clinvar
20067064 309.56 C T PASS 0/1 164 SYNONYMOUS_CODING LOW None 0.66234 0.66230 0.43349 None None None None None None NAV2|0.845516464|4.74%
View sp16_multisample SP16_819 11 rs4757028
dbSNP Clinvar
20099112 312.99 A T PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.90855 0.90850 0.12571 None None None None None None NAV2|0.845516464|4.74%
View sp16_multisample SP16_819 11 rs6483642
dbSNP Clinvar
20099541 482.1 C T PASS 0/1 72 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.90835 0.90830 0.13409 None None None None None None NAV2|0.845516464|4.74%
View sp16_multisample SP16_819 11 rs1867114
dbSNP Clinvar
20101704 878.46 C T PASS 0/1 95 SYNONYMOUS_CODING LOW None 0.90635 0.90630 0.13786 None None None None None None NAV2|0.845516464|4.74%
View sp16_multisample SP16_819 11 rs1867115
dbSNP Clinvar
20101744 1333.51 C A PASS 0/1 172 SYNONYMOUS_CODING LOW None 0.93171 0.93170 0.11210 None None None None None None NAV2|0.845516464|4.74%
View sp16_multisample SP16_819 11 rs2028570
dbSNP Clinvar
20104669 707.5 G A PASS 0/1 152 SYNONYMOUS_CODING LOW None 0.43790 0.43790 0.46463 None None None None None None NAV2|0.845516464|4.74%
View sp16_multisample SP16_819 11 rs1837971
dbSNP Clinvar
20112492 411.72 G A PASS 0/1 91 SYNONYMOUS_CODING LOW None 0.49900 0.49900 0.49500 None None None None None None NAV2|0.845516464|4.74%
View sp16_multisample SP16_819 11 rs2243411
dbSNP Clinvar
20124914 1619.29 A C PASS 1/1 200 SYNONYMOUS_CODING LOW None 0.91733 0.91730 0.06674 None None None None None None NAV2|0.845516464|4.74%
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