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OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
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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 . 41160215 37682.65 A G PASS 0/1 49 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 46729239 21278.32 A G PASS 0/1 157 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 10296804 26390.56 A C PASS 1/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 47187991 6891.84 A G PASS 1/1 44 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 42677960 71042.61 A G PASS 0/1 57 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62810445 30429.78 A G PASS 1/1 71 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63541676 4519.84 A G PASS 0/1 12 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 47187918 2965.73 A G PASS 1/1 18 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 42199632 3126.66 A G PASS 1/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 47187914 2949.44 A G PASS 1/1 18 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 42115189 58214.1 A G PASS 0/1 60 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63494832 26266.12 A G PASS 1/1 79 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 10458132 35356.34 A G PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 47183212 57598.52 A G PASS 1/1 50 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 47181004 57246.46 A G PASS 1/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 10458389 9857.38 A G PASS 0/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63736025 27128.22 A G PASS 1/1 123 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 47180528 4748.87 A G PASS 1/1 7 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
View 23 recalibrated filtered postcgp gqfiltered 20 . 62797071 40486.16 A C PASS 1/1 30 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62709934 12122.62 A G PASS 0/1 91 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 8717466 23149.99 A C PASS 1/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 17558523 1616.65 A G PASS 1/1 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 10640657 6382.89 A C PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63694757 36972.93 A C PASS 1/1 72 MODIFIER -0.53 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 47169306 32260.54 A T PASS 1/1 37 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 25295234 12324.19 A G PASS 1/1 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 47168991 19921.27 A G PASS 1/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32014686 3501.41 A G PASS 0/1 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23877345 8316.06 A G PASS 0/1 24 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 30417389 306.61 A G PASS 0/1 71 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 1242590 3668.57 A G PASS 1/1 141 None None None None None None None None None None

ACTR5

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 . 37384622 937.31 A G PASS 1/1 1 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 . 47097320 29826.81 A G PASS 1/1 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 46736576 751.71 A C PASS 0/1 15 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 41345676 8242.79 A G PASS 0/1 25 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 17616716 95591.9 A G PASS 1/1 68 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 . 23826292 9793.39 A C PASS 0/1 44 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23826391 52267.65 A C PASS 1/1 146 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 10643542 1673.24 A G PASS 1/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 1244130 3494.86 A C PASS 1/1 130 None None None -0.59 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 17624595 19914.38 A T PASS 1/1 83 None None None 0.27 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 17641784 12598.39 A G PASS 0/1 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 35306660 54745.53 A G PASS 0/1 70 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 . 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 . 63490349 22822.81 A G PASS 1/1 44 MODIFIER None None None None None None None

ACTR5

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 rs772679338
dbSNP
37384620 1021.57 A G PASS 1/1 1 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.60 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 . 4699605 30613.8 A G PASS 0/1 157 None None None 0.87 None None rs1799990 5|5|2|3 Jakob-Creutzfeldt_disease|Fatal_familial_insomnia|Genetic_prion_diseases|not_specified 0|0|0|0 None

ACTR5

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 . 37384614 959.84 A G PASS 1/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08 0.79 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 . 26081411 3175.21 A G PASS 1/1 60 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 58218490 2524.63 A G PASS 1/1 48 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 46374687 49871.89 A G PASS 1/1 26 None None None None None None None None None None
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 . 46367543 85271.94 A G PASS 1/1 75 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 31998221 311.55 A G PASS 1/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 37872205 3233.06 A G PASS 1/1 76 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63488262 371.27 A G PASS 1/1 12 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 46351003 57742.89 A C PASS 1/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 35142661 8334.62 A G PASS 0/1 24 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63688251 59626.04 A C PASS 0/1 90 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63602920 69135.13 A G PASS 0/1 22 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63602888 80909.33 A G PASS 1/1 12 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 35126172 54232.04 A C PASS 0/1 28 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 10644278 8318.6 A T,* PASS 0/2 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 10644280 6841.36 A T,* PASS 2/2 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 10644282 1917.45 A T,* PASS 2/2 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 37987014 1549.01 A G PASS 1/1 49 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 10658737 67585.36 A G PASS 0/1 34 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 38000451 722.89 A AC... PASS 0/1 37 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62362541 27595.03 A G PASS 0/1 40 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 37223992 60706.11 A C PASS 0/1 25 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 58669145 10650.33 A G PASS 1/1 31 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 19721299 16623.39 A C PASS 1/1 10 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 . 62346840 31951.19 A G PASS 0/1 276 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 19673810 27385.5 A G,* PASS 0/1 53 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62346645 34639.88 A G PASS 1/1 138 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32898400 1312.51 A G PASS 1/1 18 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63360933 471.54 A C PASS 0/1 9 MODIFIER None None None None None None None

NINL

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 . 25498422 16195.47 A G PASS 0/1 17 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 . 38050014 1527.09 A G PASS 1/1 3 None None None None None None None None None None

ARFRP1

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 . 62338071 5274.94 A G PASS 0/1 144 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 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 . 38059666 16975.63 A G PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 56526261 17424.38 A G PASS 0/1 53 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 38131428 22.78 A C PASS 0/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 38131463 28.03 A G PASS 0/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 56518845 416.58 A G PASS 0/1 26 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 37207486 117815.13 A G PASS 0/1 70 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63350772 88749.99 A G PASS 1/1 224 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 11027734 204.46 A C PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63350733 87902.63 A G PASS 1/1 157 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 18763935 5586.38 A G PASS 1/1 204 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62318402 11940.21 A G PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 38161764 19112.47 A G PASS 1/1 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 56513348 23661.68 A G PASS 0/1 42 None None None 0.57 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62317470 59169.89 A G PASS 1/1 79 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 38165099 21237.08 A G PASS 1/1 53 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62316232 3766.02 A G PASS 0/1 11 None None None None None None None None None None