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:

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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

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 . 96321 407259.99 T C PASS 1/1 138 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 145514 31704.3 GCAAA G PASS 0/1 107 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 145669 105398.73 ACC A PASS 1/1 64 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 157292 13324.69 C G PASS 1/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 157363 32101.76 G C PASS 1/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 157484 31982.75 G T PASS 0/1 26 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 157507 43501.75 C T PASS 0/1 19 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 157537 82585.36 GC G PASS 0/1 19 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 158721 64266.74 G A PASS 0/1 47 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 158768 34435.59 G A PASS 0/1 40 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 158815 39125.59 G A PASS 0/1 57 None None None 3.68 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 158935 36907.59 C A PASS 0/1 93 None None None 0.09 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 159100 2060.63 C T PASS 0/1 179 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 159104 60324.94 T C PASS 1/1 182 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 159200 12025.89 A T PASS 0/1 156 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 159274 2613.11 T TA... PASS 1/2 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 187825 57985.77 T A PASS 0/1 45 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 188087 268517.73 T A PASS 0/1 55 None None None -2.01 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 227248 33562.6 G A PASS 0/1 26 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 227527 20555.04 T C PASS 0/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 229420 43724.6 G A PASS 0/1 69 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 257794 86784.53 CT... C PASS 0/1 53 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 257866 34307.8 A C PASS 0/1 33 None None None None None None None None None None

C20orf96

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 . 257889 44111.5 T G PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 257899 39327.55 C T PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.95 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 259023 60766.5 T C PASS 0/1 55 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 259047 91731.07 G A PASS 0/1 62 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 259056 100294.5 G C PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.98 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 . 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 . 271443 113.83 T A PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 275932 63669.55 A G PASS 0/1 88 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 276086 82903.54 T A PASS 0/1 49 None None None -0.59 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 276119 25151.02 G GA PASS 0/1 36 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 276122 25300.98 G C PASS 0/1 36 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 276679 5460.78 G A PASS 0/1 26 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 277092 265343.54 A G PASS 0/1 105 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 277171 189768.02 T C PASS 0/1 95 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 278224 75314.0 A G PASS 0/1 94 None None None None None None None None None None

ZCCHC3

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 . 278561 2423.31 G A PASS 0/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.86 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 279328 28861.49 G C PASS 1/1 142 SYNONYMOUS_CODING LOW 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 . 283802 283.87 C T PASS 0/1 15 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 . 289787 37230.78 C T PASS 0/1 27 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 290494 22689.01 G GC PASS 1/1 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 297482 127.41 CA C PASS 1/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 297874 508.51 T C PASS 0/1 44 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 298839 24811.32 T C PASS 0/1 67 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 . 381233 178.28 G A PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 391328 112231.05 T C PASS 1/1 131 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 396582 81320.65 C T PASS 1/1 99 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 397598 794.42 G C PASS 1/1 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 417284 21021.98 C T PASS 1/1 82 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 . 417634 14486.84 G T PASS 1/1 83 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
View 23 recalibrated filtered postcgp gqfiltered 20 . 419864 2082.11 AC... A,* 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 . 422066 56018.92 A G PASS 1/1 50 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 429158 2430.55 T C PASS 0/1 83 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 429226 975.06 ATTT A,... PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 431129 1021.23 T C PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 435505 2179.0 A G PASS 1/1 50 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 438423 21317.04 C T PASS 1/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 444962 5795.44 C A PASS 1/1 33 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 448123 30138.65 A C PASS 1/1 58 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 448284 5202.69 C T PASS 1/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 462293 153.26 C G PASS 1/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 483858 1939.18 G T PASS 0/1 95 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 499958 17828.44 CAA CA,C PASS 0/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 508286 24095.29 C T PASS 1/1 30 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 609812 5540.22 A G PASS 0/1 82 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 609898 30830.84 C G PASS 1/1 83 None None None 1.73 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 609899 30830.84 G C PASS 1/1 80 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 610256 164.66 T C PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 646515 265.59 C CA PASS 1/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 675413 854.48 C T PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 675763 220.82 T TGGC PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 760018 174.48 G A PASS 0/1 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 760275 2282.86 G T PASS 1/1 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 761203 5714.82 A G PASS 0/1 62 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 761595 12590.31 T C PASS 1/1 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 764018 16488.14 A AC... PASS 0/1 21 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 764203 1949.54 A G PASS 1/1 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 rs6107927
dbSNP
765039 1444.63 C T PASS 0/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 765779 9979.21 GT... G PASS 0/1 73 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 765937 766.83 CT C,CTT PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 844675 22.12 C CT PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 844751 528.87 GCTC G PASS 0/1 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 845035 16514.93 T C PASS 0/1 122 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 845349 1879.45 C T PASS 0/1 96 None None None 4.86 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 872450 1389.68 C T PASS 0/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 872792 22697.94 T G PASS 1/1 25 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 881101 1563.95 G A,T PASS 0/1 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 888474 1644.4 G A PASS 0/1 60 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 958487 244.55 T A PASS 0/1 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 958518 490.18 A G PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 1002249 331.59 G A PASS 0/1 21 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 1118686 21034.48 A G PASS 1/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 1118880 87811.76 T G PASS 1/1 156 None None None 1.16 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 1119023 24767.93 G C PASS 1/1 14 None None None None None None None None None None