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

ATXN1, GNAL, IL17RA, TFRC,
ATXN1 Spinocerebellar ataxia 1, 164400 (3)
GNAL Dystonia 25, 615073 (3)
IL17RA ?Candidiasis, familial, 5, autosomal recessive, 613953 (3)
TFRC Immunodeficiency 46, 616740 (3)

Genes at Clinical Genomics Database

ATXN1, GNAL, IL17RA, LRP1, TFRC,
ATXN1 Spinocerebellar ataxia 1
GNAL Primary torsion dystonia
IL17RA Candiasis, familial, 5
LRP1 Schizophrenia
TFRC Immunodeficiency 46

Genes at HGMD

Summary

Number of Variants: 13
Number of Genes: 13

Export to: CSV

ATXN1

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 23 recalibrated filtered postcgp gqfiltered 6 . 16327633 1940.98 GT... GT... PASS 0/1 17 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None

BMP6

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 23 recalibrated filtered postcgp gqfiltered 6 . 7727289 1443.72 G GAGC PASS 0/1 63 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None

E2F3

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 23 recalibrated filtered postcgp gqfiltered 6 . 20402602 315.08 A AGCG PASS 0/1 18 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None

FHAD1

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 23 recalibrated filtered postcgp gqfiltered 1 . 15684697 867.55 G GG... PASS 0/1 47 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None

GNAL

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 23 recalibrated filtered postcgp gqfiltered 18 rs577163323
dbSNP
11689670 1084.08 CG... CG... PASS 0/1 47 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE 0.00998 0.00998 0.23439 None None None None None None None

GPR128

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 23 recalibrated filtered postcgp gqfiltered 3 . 100373684 123371.82 T TGCA PASS 1/1 36 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None

HMHA1

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 23 recalibrated filtered postcgp gqfiltered 19 . 1085862 6710.61 C CGGG PASS 0/1 169 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None

IL17RA

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 23 recalibrated filtered postcgp gqfiltered 22 . 17589567 7181.42 A ACTT PASS 0/1 37 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None

LRP1

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 23 recalibrated filtered postcgp gqfiltered 12 . 57522759 921.53 A AC... PASS 1/1 18 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None

LURAP1L

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 23 recalibrated filtered postcgp gqfiltered 9 . 12775862 13634.31 T TG... PASS 1/2 62 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None

RNF26

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 23 recalibrated filtered postcgp gqfiltered 11 . 119206289 238.77 C CC... PASS 0/1 11 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None

SORBS3

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 23 recalibrated filtered postcgp gqfiltered 8 . 22422826 497.2 T TTTG PASS 0/1 27 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None

TFRC

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 23 recalibrated filtered postcgp gqfiltered 3 . 195791241 194499.72 T TG... PASS 0/1 31 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None