SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

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OMIM:
CLINICAL GENOMICS DATABASE:
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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

BRDT, SLC2A1,
BRDT ?Spermatogenic failure 21, 617644 (3)
SLC2A1 {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847 (3)
Dystonia 9, 601042 (3)
GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (3)
GLUT1 deficiency syndrome 2, childhood onset, 612126 (3)
Stomatin-deficient cryohydrocytosis with neurologic defects, 608885 (3)

Genes at Clinical Genomics Database

SLC2A1,
SLC2A1 GLUT1 deficiency syndrome 1
GLUT1 deficiency syndrome 2
Epilepsy, idiopathic generalized, susceptibility to, 12
Stomatin-deficient cryohydrocytosis with neurologic defects

Genes at HGMD

Summary

Number of Variants: 13
Number of Genes: 8

Export to: CSV
  • Page 1 of 1

BRDT

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 17_s17 1 . 92446839 3.52 A C LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.02 None None None None None None BRDT|0.129826604|45.89%

CAMK1G

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 17_s17 1 rs776808728
dbSNP Clinvar
209785210 5.06 G A LowGQX;LowGQ 1/1 1 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20 0.01 None None None None None None CAMK1G|0.16241146|41.24%

COL16A1

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 17_s17 1 rs763834475
dbSNP Clinvar
32138082 9.3 G T LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11 0.03 None None None None None None COL16A1|0.160017905|41.54%

DDX20

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 17_s17 1 . 112298583 643.81 G C PASS 1/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19 0.00 None None None None None None DDX20|0.302360625|27.47%

DUSP12

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 17_s17 1 rs1063178
dbSNP Clinvar
161721707 45.06 C T LowGQ 0/1 4 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.36002 0.36000 0.35399 None None None None None None DUSP12|0.090238655|53.19%

FBXO2

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 17_s17 1 . 11710700 11.01 G T LowGQX;LowGQ 1/1 3 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None FBXO2|0.047108559|63.55%

IGFN1

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 17_s17 1 rs12757706
dbSNP Clinvar
201178470 14.92 G A LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT 0.30411 0.30410 None None None None None None IGFN1|0.007058463|83.43%

SLC2A1

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 17_s17 1 rs11537641
dbSNP Clinvar
43396414 14.92 G A LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT 0.14137 0.14140 0.16392 None None None None None None SLC2A1|0.663936804|9.56%
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 17_s17 1 rs3748576
dbSNP Clinvar
10342629 11.01 G A LowGQX;LowGQ 1/1 1 None None None 0.71266 0.71270 0.29087 None None None None None None KIF1B|0.70541308|8.35%
View 17_s17 1 rs28372703
dbSNP Clinvar
112298378 1478.22 T C PASS 1/1 63 START_GAINED LOW 0.14457 0.14460 0.12739 None None None None None None FAM212B|0.028007694|70.41%,DDX20|0.302360625|27.47%
View 17_s17 1 . 112298313 676.01 A T PASS 1/1 27 START_GAINED LOW None None None None None None FAM212B|0.028007694|70.41%,DDX20|0.302360625|27.47%
View 17_s17 1 . 112298305 548.62 C CA PASS 1/1 13 MOTIF[MA0139.1:CTCF] LOW None None None None None None FAM212B|0.028007694|70.41%,DDX20|0.302360625|27.47%
View 17_s17 1 . 33741692 4.97 T C LowGQX 0/1 4 None None None None None None None None None ZNF362|0.488293803|16.39%
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