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INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

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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
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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 . 13072370 605577.1 T G PASS 0/1 58 None None None -1.64 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 56248723 504269.4 G T PASS 1/1 77 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34921720 461752.95 C T PASS 0/1 15 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 30388572 431632.83 AAAG A PASS 0/1 199 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63733533 427356.2 T A PASS 1/1 120 MODIFIER None None None None None None None
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 . 18481777 395745.79 A G PASS 1/1 49 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 30388547 380419.83 T C PASS 0/1 253 None None None 0.27 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 31390413 363792.99 T C PASS 1/1 95 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 13072387 352548.2 A G PASS 0/1 59 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 51791943 347820.9 A G PASS 1/1 130 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 18315428 344046.9 T A PASS 1/1 94 None None None -2.69 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 4899486 328301.97 AG... A PASS 0/1 39 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 13717359 327793.89 T C PASS 1/1 43 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62964185 309848.9 A G PASS 1/1 74 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 24543582 307762.9 C G PASS 1/1 40 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 rs6101640
dbSNP
35279894 305213.2 A G PASS 1/1 35 None None None 0.00280 0.00280 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 2653290 304350.79 T C PASS 1/1 57 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 13865341 299837.9 C T PASS 1/1 50 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63966341 299619.27 T G PASS 1/1 243 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 49270147 298965.81 G A PASS 1/1 50 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23491754 289324.89 A G PASS 1/1 56 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 59023961 285387.4 T G PASS 1/1 124 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23749085 273578.94 G T PASS 1/1 297 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 56399368 271675.2 C A PASS 1/1 19 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 . 18412668 267632.08 C G PASS 0/1 19 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 . 45789004 250662.8 A G PASS 0/1 62 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 13866774 246336.9 A G PASS 1/1 49 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 49228683 232520.68 T A PASS 1/1 67 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34987544 231403.1 C CAT PASS 1/1 89 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 20090990 229325.08 T C PASS 1/1 48 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 2309687 228042.94 C A PASS 1/1 8 None None None 0.37 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 56386407 222072.2 T C PASS 0/1 39 None None None -2.03 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 8789483 220739.9 A G PASS 1/1 27 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 . 2657933 216392.27 T C PASS 1/1 35 None None None -1.92 None None rs6753 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 20 . 13049116 214998.9 A C PASS 1/1 63 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 1570839 214283.11 C T PASS 1/1 100 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 58903752 210084.23 C T PASS 0/1 77 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 3696710 204338.89 T C PASS 1/1 101 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 45789036 203117.8 G C PASS 0/1 46 None None None -1.06 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34749948 202110.41 T C PASS 1/1 148 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 49874721 201643.65 T G PASS 1/1 125 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 49248835 196334.81 G A PASS 1/1 135 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 14326307 195450.75 G T PASS 1/1 52 None None None 0.19 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 2432480 191496.9 C T PASS 1/1 133 None None None None None None None None None None

TRMT6

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 . 5923248 191052.65 A G PASS 1/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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 . 62966594 190777.64 CT C PASS 1/1 118 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 . 24543609 189388.9 A G PASS 1/1 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23879541 188324.74 A G PASS 0/1 172 None None None -2.30 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 8733195 187106.9 G A PASS 1/1 15 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23825195 185828.79 G A PASS 1/1 51 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 35069323 184237.47 G A PASS 1/1 55 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 47639206 184058.89 C T PASS 1/1 30 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 rs542240002
dbSNP
33038815 182930.69 C T PASS 0/1 34 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 44263169 182904.77 C G PASS 0/1 32 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 57523677 182359.02 T C PASS 1/1 63 None None None -2.10 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 45375515 181104.15 CATT C PASS 1/1 33 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 58990888 180822.06 G C PASS 0/1 71 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 4899662 179530.82 G A PASS 0/1 81 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34470149 179083.1 G C PASS 0/1 35 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 56533561 178833.51 C A PASS 0/1 69 None None None -1.19 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 47294639 178255.09 G T PASS 1/1 58 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 45366770 176471.98 C T PASS 1/1 44 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23605547 175867.95 T C PASS 0/1 84 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 17725032 174955.94 A G PASS 1/1 12 None None None -1.37 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 61999160 174470.57 C T PASS 1/1 34 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 5302610 174191.54 C G PASS 1/1 106 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33039485 172822.74 A G PASS 0/1 22 None None None -1.25 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 49233645 172764.68 C T PASS 1/1 105 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 8789461 172554.92 A C PASS 1/1 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 38318446 171795.69 G A PASS 0/1 44 None None None -0.62 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 35496586 171095.4 C G PASS 1/1 74 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 50574691 170619.16 A C PASS 0/1 47 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 45545784 167301.0 G A PASS 0/1 61 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 35174686 166855.04 C T PASS 0/1 106 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62387568 163679.57 T C PASS 1/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 rs55871300
dbSNP
1478415 162969.18 T G PASS 0/1 80 None None None -0.22 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 2659456 160496.27 G A PASS 1/1 47 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34470169 160258.95 CT C PASS 0/1 27 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 51475490 159742.54 T G PASS 0/1 56 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 3304493 159057.34 T C PASS 1/1 60 None None None 1.61 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62306274 158325.67 G A PASS 0/1 126 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 1635313 156681.79 T C PASS 1/1 91 None None None None None None None None None None

TRMT6

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 . 5923202 156678.65 C G PASS 1/1 82 SYNONYMOUS_CODING LOW -1.44 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 . 51454721 155442.06 A G PASS 0/1 22 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 8774596 154950.71 T C PASS 0/1 69 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 18481848 153590.78 A G PASS 1/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 24665303 152672.72 G A PASS 0/1 73 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 35054934 151731.01 G A PASS 1/1 88 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 61928292 150317.67 A G PASS 0/1 245 None None None -1.69 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 35467577 150036.4 A G PASS 1/1 39 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 . 33225117 146812.18 G A PASS 0/1 72 None None None -1.11 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63673921 146802.5 G A PASS 0/1 140 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 35054929 146329.0 G T PASS 1/1 85 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 10639738 145331.07 A G PASS 1/1 50 None None None None None None None None None None