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

ATP1A3, PLA2G6, TUBB4A,
ATP1A3 Dystonia-12, 128235 (3)
CAPOS syndrome, 601338 (3)
Alternating hemiplegia of childhood 2, 614820 (3)
PLA2G6 Parkinson disease 14, autosomal recessive, 612953 (3)
Neurodegeneration with brain iron accumulation 2B, 610217 (3)
Infantile neuroaxonal dystrophy 1, 256600 (3)
TUBB4A Leukodystrophy, hypomyelinating, 6, 612438 (3)
Dystonia 4, torsion, autosomal dominant, 128101 (3)

Genes at Clinical Genomics Database

ATP1A3, CIZ1, PLA2G6, TOR1A, TUBB4A,
ATP1A3 Alternating hemiplegia of childhood 2
CIZ1 Primary cervical dystonia, adult-onset
PLA2G6 Neurodegeneration with brain iron accumulation 2B
Neurodegeneration with brain iron accumulation 2A
Parkinson disease 14, autosomal recessive
TOR1A Dystonia 1, torsion
TUBB4A Leukodystrophy, hypomyelinating, 6
Dystonia 4, torsion, autosomal dominant

Genes at HGMD

Summary

Number of Variants: 7
Number of Genes: 5

Export to: CSV

ATP1A3

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 dt39_s5 19 rs919390
dbSNP
42471050 6753.18 G C PASS 1/1 173 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71945 0.71940 0.28832 0.00 None None None None None None None

CIZ1

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 dt39_s5 9 . 130928520 180.81 A G PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 None None None None None None None

PLA2G6

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 dt39_s5 22 . 38539248 9.3 A G LowGQX;LowMQ;LowQD 0/1 192 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

TOR1A

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 dt39_s5 9 . 132586300 578.99 T C LowQD 0/1 315 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.12 None None None None None None None
View dt39_s5 9 . 132586292 76.22 T G LowQD 0/1 311 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.72 None None None None None None None
View dt39_s5 9 rs1801968
dbSNP
132580901 4215.35 C G PASS 0/1 437 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08367 0.08367 0.10180 0.01 0.79 None None None None None None None

TUBB4A

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 dt39_s5 19 . 6501402 14.92 T C LowGQX 1/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.00 None None None None None None None