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

CIZ1, TOR1A,
CIZ1 Primary cervical dystonia, adult-onset
TOR1A Dystonia 1, torsion

Genes at HGMD

Summary

Number of Variants: 16
Number of Genes: 2

Export to: CSV

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
View dt39_s5 9 rs770045508
dbSNP
130950152 4.25 T C LowGQX;LowQD 0/1 7 SYNONYMOUS_CODING LOW SILENT 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 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
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
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 . 130950347 5.92 C T LowGQX;LowQD 0/1 3 None None None None None None None None None None
View dt39_s5 9 . 130950398 3.9 A T LowGQX;LowQD 0/1 3 None None None None None None None None None None
View dt39_s5 9 rs758376718
dbSNP
130950110 4.25 A G LowGQX;LowQD 0/1 7 None None None None None None None None None None
View dt39_s5 9 . 130943400 467.13 CT C PASS 0/1 148 None None None None None None None None None None
View dt39_s5 9 rs45585631
dbSNP
130942972 144.57 T C PASS 0/1 25 None None None 0.69269 0.69270 0.41004 None None None None None None None
View dt39_s5 9 . 130942901 24.72 A C LowGQX;LowQD 0/1 25 None None None None None None None None None None
View dt39_s5 9 rs3892074
dbSNP
130940822 2872.72 C T PASS 0/1 284 None None None 0.68730 0.68730 None None None None None None None
View dt39_s5 9 rs4075428
dbSNP
130940121 117.4 G A PASS 0/1 6 None None None 0.82788 0.82790 None None None None None None None
View dt39_s5 9 rs144699223,rs59232258
dbSNP
130932396 12210.76 AAC A PASS 0/1 525 None None None 0.48463 0.48460 0.49081 None None None None None None None
View dt39_s5 9 rs10987905
dbSNP
130931586 1334.76 C A PASS 0/1 76 None None None 0.16194 0.16190 None None None None None None None
View dt39_s5 9 rs57931082,rs397801608
dbSNP
130954645 128.76 C CA LowGQX 1/1 16 None None None None None None None None None None