SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
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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

AHCY, EEF1A2, IDH3B, KCNQ2, NOP56, PRPF6, SNTA1, TBC1D20,
AHCY Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3)
EEF1A2 Mental retardation, autosomal dominant 38, 616393 (3)
Epileptic encephalopathy, early infantile, 33, 616409 (3)
IDH3B Retinitis pigmentosa 46, 612572 (3)
KCNQ2 Seizures, benign neonatal, 1, 121200 (3)
Myokymia, 121200 (3)
Epileptic encephalopathy, early infantile, 7, 613720 (3)
NOP56 Spinocerebellar ataxia 36, 614153 (3)
PRPF6 Retinitis pigmentosa 60, 613983 (3)
SNTA1 Long QT syndrome 12, 612955 (3)
TBC1D20 Warburg micro syndrome 4, 615663 (3)

Genes at Clinical Genomics Database

AHCY, EEF1A2, FERMT1, IDH3B, KCNQ2, NOP56, PRPF6, SNTA1, TBC1D20,
AHCY Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency
EEF1A2 Mental retardation, autosomal dominant 28
Epileptic encephalopathy, early infantile, 33
FERMT1 Kindler syndrome
IDH3B Retinitis pigmentosa, autosomal recessive, IDH3B-related
KCNQ2 Myokymia
Benign familial neonatal seizures, 1
Epileptic encephalopathy, early infantile, 7
NOP56 Spinocerebellar ataxia 36
PRPF6 Retinitis pigmentosa 60
SNTA1 Long QT syndrome 12
TBC1D20 Warburg micro syndrome 4

Genes at HGMD

Summary

Number of Variants: 2943
Number of Genes: 45

Export to: CSV
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 20 . 261185 758.64 TTTTG T PASS 0/1 18 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 417395 6340.88 TTGTG TT... PASS 0/1 25 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 35741987 1824.52 TT... T PASS 0/1 39 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 44715254 1001.77 TG... T,TGC PASS 1/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 44715256 1124.29 TG... T,* PASS 2/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 44715258 1224.06 TGTGA T,* PASS 2/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23823919 2517.43 TG... T PASS 0/1 129 None None None None None None None None None None

KCNQ2

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 20 . 62065249 392.61 TG... T PASS 1/1 3 CODON_CHANGE_PLUS_CODON_DELETION+SPLICE_SITE_REGION MODERATE 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 23 recalibrated filtered postcgp gqfiltered 20 . 35000895 56804.73 TG... T PASS 0/1 38 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 44715260 1733.74 TG... TG... PASS 3/3 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 38650733 2781.6 TG... T PASS 0/1 102 None None None None None None None None None None

TBC1D20

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 20 . 419862 2082.11 TG T,* PASS 0/1 36 FRAME_SHIFT HIGH 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 23 recalibrated filtered postcgp gqfiltered 20 . 50842502 2400.4 TG T PASS 1/1 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 13617205 29.82 TG T PASS 0/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 18025034 27565.54 TG T PASS 1/1 38 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 37860106 89202.1 TCTCA T PASS 1/1 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 61252442 400.74 TCGG T PASS 0/1 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62926256 203.5 TCGCC T PASS 1/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34999750 13545.79 TCCC TC,T PASS 1/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 10644276 14169.29 TC... TC... PASS 1/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 45512561 1080.92 TC... T PASS 0/1 48 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23635182 10440.38 TC... TC... PASS 2/3 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 49544513 22.63 TC T PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 5610946 272.43 TC T PASS 1/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 353673 73736.41 TC T PASS 1/1 65 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 289773 27988.71 TC T PASS 0/1 28 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 51726060 35.63 TC T PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 49862819 27851.52 TATGA T PASS 1/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 21365803 21006.3 TA... T PASS 1/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 53994888 38672.18 TA... TA... PASS 0/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 5576040 12351.54 TAC T,... PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33015599 11479.21 TAAA TA... PASS 1/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 4859251 39229.38 TAAA AA... PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 3572652 8444.31 TAA TA... PASS 0/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 51398570 15955.08 TAA TA,T PASS 1/1 1 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 16494219 3156.79 TAA TA... PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 16378711 29041.29 TAA TA... PASS 0/1 36 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 36817487 384.05 TA T,TAA PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 52097113 58219.05 TA T PASS 1/1 75 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 35871892 6095.3 TA T,TAA PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 1203401 136.07 TA T PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 35384648 46.49 TA T PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32703601 29.15 TA T PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 21382065 113276.63 TA T PASS 1/1 88 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 35694887 32.12 TA T PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 64272182 989.56 T C PASS 0/1 74 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62137124 39559.06 T C,* PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34977366 1851.94 T C PASS 0/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 17436488 6629.36 T G PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34986962 53603.73 T C PASS 0/1 187 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62134032 1984.47 T C PASS 1/1 30 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 2493435 41628.4 T C PASS 0/1 33 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62129684 978.63 T G PASS 0/1 30 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34991096 78818.06 T C PASS 1/1 58 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 17494045 110920.25 T G PASS 1/1 67 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34994086 66429.73 T C PASS 0/1 80 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62009272 13356.09 T A PASS 1/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 17494323 218738.78 T C PASS 1/1 82 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62007484 100176.06 T A PASS 1/1 22 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34995311 40493.64 T C PASS 1/1 106 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34996975 4925.54 T TG PASS 1/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34997019 2070.14 T TG PASS 1/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 35005654 65800.0 T C PASS 1/1 80 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 61923401 33179.61 T C PASS 0/1 86 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 35005871 45622.63 T C PASS 1/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 35016239 18043.86 T C PASS 0/1 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 35049803 139047.06 T G PASS 1/1 51 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 41114304 18642.5 T C PASS 0/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 41168825 46303.67 T C PASS 0/1 101 None None None 1.64 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 41203988 15428.94 T C PASS 0/1 140 None None None 1.75 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 61570616 2027.44 T G PASS 1/1 35 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 41437477 5735.02 T A PASS 0/1 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 41498039 10477.84 T A PASS 0/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 60700755 665.52 T C PASS 0/1 35 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 60700706 1716.62 T G PASS 1/1 21 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 42350520 35515.22 T C PASS 0/1 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 60308674 6737.78 T C PASS 1/1 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 60308672 6737.81 T C PASS 1/1 22 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 42756295 13.68 T G PASS 1/1 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 60308547 11117.27 T G PASS 1/1 97 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 60308476 25802.64 T C PASS 1/1 107 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 43460871 147691.18 T C PASS 1/1 46 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 43579882 52381.9 T G PASS 1/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 17499085 35143.63 T C PASS 0/1 26 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 60069940 30579.52 T C PASS 0/1 73 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 60058779 777.1 T C PASS 0/1 19 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 17499118 17257.2 T C PASS 0/1 21 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 43636086 24326.08 T C PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 17618569 112047.4 T C PASS 1/1 32 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 43637060 24749.09 T C PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 17621383 8133.65 T C PASS 1/1 53 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 43681657 2939.42 T C PASS 0/1 95 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 43681869 40484.01 T C PASS 0/1 22 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 59982960 14164.57 T C PASS 0/1 49 None None None 2.20 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 43699999 90567.41 T C PASS 1/1 31 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 43702300 5464.48 T C PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 43945802 57214.01 T C PASS 1/1 32 SPLICE_SITE_REGION LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 17624371 1395.58 T C PASS 1/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 17625727 12792.72 T C PASS 1/1 56 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 44111911 1354.71 T C PASS 0/1 42 None None None None None None None None None None