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

ASPN, CPS1, DDHD1, GREB1L, KRT4, MYO5B, PDE11A, PIEZO1, RTTN, SPAG1, SYNJ1, TSPYL1,
ASPN {Lumbar disc degeneration}, 603932 (3)
{Osteoarthritis susceptibility 3}, 607850 (3)
CPS1 Carbamoylphosphate synthetase I deficiency, 237300 (3)
{Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3)
{Venoocclusive disease after bone marrow transplantation} (3)
DDHD1 Spastic paraplegia 28, autosomal recessive, 609340 (3)
GREB1L Renal hypodysplasia/aplasia 3, 617805 (3)
KRT4 White sponge nevus 1, 193900 (3)
MYO5B Microvillus inclusion disease, 251850 (3)
PDE11A Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3)
Lymphatic malformation 6, 616843 (3)
RTTN Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3)
SPAG1 Ciliary dyskinesia, primary, 28, 615505 (3)
SYNJ1 Epileptic encephalopathy, early infantile, 53, 617389 (3)
Parkinson disease 20, early-onset, 615530 (3)
TSPYL1 Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)

Genes at Clinical Genomics Database

CPS1, KRT4, MYO5B, PDE11A, PIEZO1, RTTN, TSPYL1,
CPS1 Carbamoylphosphate synthetase I deficiency
KRT4 White sponge nevus 1
MYO5B Diarrhea 2, with microvillus atrophy
PDE11A Pigmented nodular adrenocortical disease, primary, 2
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
RTTN Microcephaly, short stature, and polymicrogyria with or without seizures
TSPYL1 46, XY disorder of sex development
Sudden infant death with dysgenesis of the testes syndrome

Genes at HGMD

Summary

Number of Variants: 38
Number of Genes: 38

Export to: CSV
  • Page 1 of 1

AK5

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 fam3 AWI 1 rs79671213
dbSNP Clinvar
78024345 83.8 C CTAT PASS 0/1 51 CODON_INSERTION MODERATE None 0.61961 0.61960 0.35982 None None None None None None AK5|0.166834889|40.71%

AMOT

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 fam3 AWI X rs147791784,rs373265985
dbSNP Clinvar
112022297 124.29 C CAGG PASS 0/1 89 CODON_INSERTION MODERATE None 0.04079 0.04079 0.06154 None None None None None None AMOT|0.349674275|24.15%

ASPN

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 fam3 AWI 9 rs878929025,rs397838876,rs557103556
dbSNP Clinvar
95237024 460.37 CTCA C,... PASS 1/2 56 CODON_INSERTION MODERATE None None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%

BAIAP2L2

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 fam3 AWI 22 rs142739979
dbSNP Clinvar
38483155 285.69 T TT... PASS 0/1 103 CODON_INSERTION MODERATE None 0.30052 0.30050 0.33270 None None None None None None BAIAP2L2|0.045525826|64.05%

C2orf71

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 fam3 AWI 2 rs139768554
dbSNP Clinvar
29287926 2107.66 C CGCT PASS 0/1 262 CODON_INSERTION MODERATE None 0.37360 0.37360 0.31822 None None None None None None C2orf71|0.006399925|84.18%

C8orf59

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 fam3 AWI 8 rs112611553
dbSNP Clinvar
86126827 562.21 C CA... PASS 1/1 34 CODON_INSERTION MODERATE None 0.99720 0.99720 0.00399 None None None None None None E2F5|0.388960651|21.48%,C8orf59|0.106330723|49.9%

CCDC180

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 fam3 AWI 9 rs113264216,rs71369506
dbSNP Clinvar
100092968 26.55 A AG... PASS 0/1 30 CODON_INSERTION MODERATE None 0.59145 0.59150 None None None None None None CCDC180|0.009048134|81.61%

CCDC66

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 fam3 AWI 3 rs77152637
dbSNP Clinvar
56650051 643.84 A ACTT PASS 0/1 78 CODON_INSERTION MODERATE None 0.41017 None None None None None None CCDC66|0.050930369|62.39%

CNDP1

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 fam3 AWI 18 rs10663835,rs60017744
dbSNP Clinvar
72223591 1531.44 G GT... PASS 0/1 187 CODON_INSERTION MODERATE None None None None None None None CNDP1|0.024865105|71.86%

CPS1

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 fam3 AWI 2 rs61509952
dbSNP Clinvar
211421452 298.08 A ATCT PASS 0/1 167 CODON_INSERTION MODERATE None 0.47704 0.47700 0.46149 None None None None None None CPS1|0.827402852|5.16%

DDHD1

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 fam3 AWI 14 rs140904345,rs55671452
dbSNP Clinvar
53619480 85.08 T TG... PASS 0/1 80 CODON_INSERTION MODERATE None 0.78534 0.78530 None None None None None None DDHD1|0.165614738|40.86%

FAM83G

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 fam3 AWI 17 rs538676818
dbSNP Clinvar
18874685 957.59 C CGGT PASS 0/1 155 CODON_INSERTION MODERATE None 0.65176 0.65180 0.40464 None None None None None None SLC5A10|0.040169483|65.72%,FAM83G|0.025838834|71.41%

GDF15

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 fam3 AWI 19 rs199673307
dbSNP Clinvar
18499305 467.64 C CCGT PASS 0/1 238 CODON_INSERTION MODERATE None 0.01298 0.01298 0.01844 None None None None None None GDF15|0.002094214|90.75%

GPRIN2

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 fam3 AWI 10 rs112620425
dbSNP Clinvar
46999591 766.16 C CA... PASS 0/1 283 CODON_INSERTION MODERATE None 0.47903 0.47900 0.49369 None None None None None None GPRIN2|0.008107767|82.54%

GREB1L

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 fam3 AWI 18 rs34960489,rs10654340
dbSNP Clinvar
19100758 261.62 A ATCT PASS 0/1 31 CODON_INSERTION MODERATE None 0.99541 0.99540 0.00367 None None None None None None GREB1L|0.672050705|9.33%

HSPBAP1

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 fam3 AWI 3 rs16338,rs71270423
dbSNP Clinvar
122459290 160.97 G GAGA PASS 0/1 68 CODON_INSERTION MODERATE None 0.15156 0.15160 0.16566 None None None None None None HSPBAP1|0.054702078|61.27%

HSPBP1

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 fam3 AWI 19 rs3040014
dbSNP Clinvar
55790886 68.04 A AG... PASS 0/1 62 CODON_INSERTION MODERATE None None None None None None None HSPBP1|0.08555301|54.04%

KRT4

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 fam3 AWI 12 rs11267392
dbSNP Clinvar
53207583 50.0 C CC... PASS 0/1 167 CODON_INSERTION MODERATE None 0.00080 0.87900 None None None None None None KRT4|0.094749162|52.19%

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 fam3 AWI 9 rs139315731,rs3833707
dbSNP Clinvar
12775861 189.53 T TG... PASS 0/1 16 CODON_INSERTION MODERATE None None None None None None None LURAP1L|0.198109841|36.91%

MAGI1

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 fam3 AWI 3 rs142043619,rs773463513
dbSNP Clinvar
65425560 141.72 T TCTG PASS 0/1 61 CODON_INSERTION MODERATE None 0.00340 None None None None None None MAGI1|0.767705528|6.67%

MUC13

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 fam3 AWI 3 rs10630030,rs397759224
dbSNP Clinvar
124646705 466.82 A AAAG PASS 1/1 46 CODON_INSERTION MODERATE None 0.98602 0.98600 0.01334 None None None None None None MUC13|0.000146036|99.87%

MYO5B

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 fam3 AWI 18 rs397841722
dbSNP Clinvar
47405425 324.19 T TGAG PASS 0/1 127 CODON_INSERTION MODERATE None 0.40475 0.40480 0.30170 None None None None None None MYO5B|0.123721802|46.86%

NR1H2

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 fam3 AWI 19 rs34296657,rs57821899
dbSNP Clinvar
50881822 600.46 A ACAG PASS 1/1 148 CODON_INSERTION MODERATE None 0.39677 0.39680 None None None None None None NR1H2|0.484472054|16.53%

OR5P2

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 fam3 AWI 11 rs138967151
dbSNP Clinvar
7818383 200.02 G GA... PASS 0/1 51 CODON_INSERTION MODERATE None 0.23363 0.23360 None None None None None None OR5P2|0.027495542|70.66%

PDE11A

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 fam3 AWI 2 rs3830637,rs397723704
dbSNP Clinvar
178494173 1139.44 G GGGA PASS 1/1 104 CODON_INSERTION MODERATE None 0.58766 0.58770 0.40711 None None None None None None PDE11A|0.740114937|7.36%

PIEZO1

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 fam3 AWI 16 rs11281795
dbSNP Clinvar
88789666 72.84 G GC... PASS 0/1 86 CODON_INSERTION MODERATE None 0.11382 0.11380 0.14962 None None None None None None PIEZO1|0.03248512|68.39%

RALY

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 fam3 AWI 20 rs10649600
dbSNP Clinvar
32664864 658.24 C CCAG PASS 0/1 269 CODON_INSERTION MODERATE None None None None None None None RALY|0.302394222|27.46%

RBM19

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 fam3 AWI 12 rs71443069,rs55840068
dbSNP Clinvar
114392971 341.71 C CGGT PASS 0/1 145 CODON_INSERTION MODERATE None 0.01478 0.01478 0.04737 None None None None None None RBM19|0.100706428|51.03%

RBM23

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 fam3 AWI 14 rs61680322,rs397812315
dbSNP Clinvar
23371255 1219.03 G GGGC PASS 0/1 167 CODON_INSERTION MODERATE None 0.52240 None None None None None None RBM23|0.17375413|39.82%

RPL29

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 fam3 AWI 3 rs777865129,rs71084167
dbSNP Clinvar
52027853 282.98 T TC... PASS 0/1 156 CODON_INSERTION MODERATE None 0.20447 0.20450 None None None None None None RPL29|0.084296604|54.35%

RTTN

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 fam3 AWI 18 rs74941514
dbSNP Clinvar
67863850 603.13 T TCTC PASS 1/1 47 CODON_INSERTION MODERATE None 0.95268 0.95270 0.04596 None None None None None None RTTN|0.045017499|64.2%

SERINC2

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 fam3 AWI 1 rs3050461,rs5773362
dbSNP Clinvar
31905889 681.2 A ACAG PASS 0/1 54 CODON_INSERTION MODERATE None 0.73902 0.73900 None None None None None None SERINC2|0.042418006|64.98%

SGK223

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 fam3 AWI 8 rs150979349,rs59372311
dbSNP Clinvar
8234868 750.3 C CG... PASS 0/1 112 CODON_INSERTION MODERATE None 0.59505 0.59500 None None None None None None None

SPAG1

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 fam3 AWI 8 rs56246127
dbSNP Clinvar
101206459 72.18 A AGAC PASS 0/1 25 CODON_INSERTION MODERATE None 0.15036 0.15040 0.15681 None None None None None None SPAG1|0.055472579|61.06%

SYNJ1

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 fam3 AWI 21 rs71640263
dbSNP Clinvar
34003928 219.26 A AA... PASS 0/1 109 CODON_INSERTION MODERATE None 0.57109 0.57110 0.43913 None None None None None None SYNJ1|0.15926278|41.69%

THSD7A

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 fam3 AWI 7 rs759853992
dbSNP Clinvar
11871469 48.63 A AG... PASS 0/1 54 CODON_INSERTION MODERATE None None None None None None None THSD7A|0.279550197|29.12%

TSPYL1

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 fam3 AWI 6 rs78371471,rs397735194
dbSNP Clinvar
116600465 157.02 T TCAC PASS 0/1 69 CODON_INSERTION MODERATE None 0.87220 0.87220 0.27113 None None None None None None DSE|0.823278071|5.23%,TSPYL1|0.00455159|86.36%

ZNF714

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 fam3 AWI 19 rs36125838,rs57999210
dbSNP Clinvar
21299774 804.7 T TATA PASS 1/1 53 CODON_INSERTION MODERATE None 0.84145 0.84150 0.14029 None None None None None None ZNF714|0.001187991|94.48%
  • Page 1 of 1