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

VARS,
VARS Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 7
Number of Genes: 1

Export to: CSV
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VARS

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 pbrpl18h2_-_sravanthi_filtered_2018-09-27_04_08_32 6 . 31760045 677.387 A C PASS 0/1 489 SYNONYMOUS_CODING LOW None None None None None None None VARS|0.143178797|43.96%
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 pbrpl18h2_-_sravanthi_filtered_2018-09-27_04_08_32 6 . 118827986 3751.8 C G PASS 1/1 516 None None None None None None None None None CEP85L|0.141033515|44.27%
View pbrpl18h2_-_sravanthi_filtered_2018-09-27_04_08_32 6 . 43780906 3132.2 T C PASS 1/1 351 None None None None None None None None None None
View pbrpl18h2_-_sravanthi_filtered_2018-09-27_04_08_32 6 . 159692840 263.732 A G PASS 0/1 185 None None None None None None None None None FNDC1|0.018012645|75.28%
View pbrpl18h2_-_sravanthi_filtered_2018-09-27_04_08_32 6 rs551888190
dbSNP Clinvar
36012344 897.549 C T PASS 0/1 486 None None None 0.00020 0.00020 None None None None None None MAPK14|0.996241922|0.72%
View pbrpl18h2_-_sravanthi_filtered_2018-09-27_04_08_32 6 . 31758911 519.067 C A PASS 0/1 492 None None None None None None None None None VARS|0.143178797|43.96%
View pbrpl18h2_-_sravanthi_filtered_2018-09-27_04_08_32 6 . 43777370 685.485 G A PASS 0/1 439 None None None None None None None None None None
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