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EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
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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

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EXCLUDE VARIANTS WITHOUT SIFT SCORE
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Genes at Omim

CTU2,
CTU2 Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 78
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

CTU2

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 combined sample_73.variant34 16 rs11278302,rs397761749
dbSNP Clinvar
88780634 655.13 AG... A PASS 0/1 86 MOTIF[MA0162.1:Egr1] LOW None 0.77376 0.77380 None None None None None None CTU2|0.007426883|83.12%
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 combined sample_73.variant34 1 rs1890041
dbSNP Clinvar
146714281 1160.21 C G PASS 0/1 77 MOTIF[MA0162.1:Egr1] LOW None 0.28355 0.28350 None None None None None None FMO5|0.073150574|56.76%
View combined sample_73.variant34 1 rs6593957
dbSNP Clinvar
205600653 168.94 C T PASS 1/1 11 MOTIF[MA0162.1:Egr1] LOW None 0.41174 0.41170 None None None None None None ELK4|0.147760515|43.34%
View combined sample_73.variant34 2 rs372877363
dbSNP Clinvar
68479717 567.21 G GG... PASS 0/1 33 MOTIF[MA0162.1:Egr1] LOW None 0.57228 0.57230 None None None None None None PPP3R1|0.920628197|2.96%
View combined sample_73.variant34 2 rs34128716
dbSNP Clinvar
112812856 2269.25 C G PASS 0/1 89 MOTIF[MA0162.1:Egr1] LOW None 0.19189 0.19190 None None None None None None TMEM87B|0.108271211|49.54%
View combined sample_73.variant34 2 rs1823715
dbSNP Clinvar
169312649 3529.78 T C PASS 1/1 122 MOTIF[MA0162.1:Egr1] MODIFIER None 0.99281 0.99280 None None None None None None CERS6|0.366731817|22.98%
View combined sample_73.variant34 3 rs13082210
dbSNP Clinvar
73045888 392.98 G A PASS 0/1 30 MOTIF[MA0162.1:Egr1] MODIFIER None 0.18071 0.18070 None None None None None None GXYLT2|0.227761838|33.54%
View combined sample_73.variant34 4 rs74551967
dbSNP Clinvar
190862288 121.51 A G PASS 0/1 23 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None FRG1|0.098149242|51.5%
View combined sample_73.variant34 6 rs10046457
dbSNP Clinvar
16238737 70.91 C G PASS 0/1 10 MOTIF[MA0162.1:Egr1] MODIFIER None 0.07907 0.07907 None None None None None None None
View combined sample_73.variant34 6 rs748492899,rs67665771
dbSNP Clinvar
18155353 1047.56 TC... T,... PASS 2/2 18 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View combined sample_73.variant34 7 rs753998453
dbSNP Clinvar
98741639 459.19 GC... G PASS 0/1 30 MOTIF[MA0162.1:Egr1] LOW None None None None None None None SMURF1|0.632069918|10.7%
View combined sample_73.variant34 9 rs7860124
dbSNP Clinvar
71788949 622.73 C A PASS 1/1 19 MOTIF[MA0162.1:Egr1] LOW None 0.44070 0.44070 None None None None None None TJP2|0.24805836|31.7%
View combined sample_73.variant34 11 rs11020196
dbSNP Clinvar
92931056 934.88 G T PASS 0/1 55 MOTIF[MA0162.1:Egr1] LOW None 0.26478 0.26480 None None None None None None SLC36A4|0.196611558|37.09%
View combined sample_73.variant34 11 rs11020197
dbSNP Clinvar
92931057 934.88 C T PASS 0/1 55 MOTIF[MA0162.1:Egr1] LOW None 0.26478 0.26480 None None None None None None SLC36A4|0.196611558|37.09%
View combined sample_73.variant34 16 rs2235632
dbSNP Clinvar
1393020 546.97 G A PASS 0/1 25 MOTIF[MA0162.1:Egr1] LOW None 0.35184 0.35180 0.40325 None None None None None None BAIAP3|0.02462485|71.97%
View combined sample_73.variant34 16 rs7191439
dbSNP Clinvar
88780685 469.48 C T PASS 0/1 74 MOTIF[MA0162.1:Egr1] MODIFIER None 0.01018 0.84840 0.12860 None None None None None None CTU2|0.007426883|83.12%
View combined sample_73.variant34 17 rs868387690
dbSNP Clinvar
17380171 76.77 A C PASS 0/1 6 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View combined sample_73.variant34 17 . 17380175 142.93 A C PASS 0/1 9 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View combined sample_73.variant34 19 rs57122454
dbSNP Clinvar
7927465 434.89 G C PASS 0/1 37 MOTIF[MA0162.1:Egr1] MODIFIER None 0.43211 0.43210 0.24292 None None None None None None EVI5L|0.086789363|53.81%
View combined sample_73.variant34 20 rs13041103
dbSNP Clinvar
61982496 792.75 T C PASS 1/1 14 MOTIF[MA0162.1:Egr1] MODIFIER None 0.62360 0.62360 None None None None None None CHRNA4|0.164276334|40.99%
View combined sample_73.variant34 22 rs926990516
dbSNP Clinvar
31503574 668.71 G C PASS 0/1 21 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View combined sample_73.variant34 22 rs140459227
dbSNP Clinvar
31503580 2116.45 GC CC,G PASS 0/2 21 MOTIF[MA0162.1:Egr1] LOW None 0.59086 0.59090 None None None None None None None
View combined sample_73.variant34 22 rs1056786867
dbSNP Clinvar
31503586 642.15 G C PASS 0/1 24 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View combined sample_73.variant34 22 . 31503592 106.62 A C PASS 0/1 22 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View combined sample_73.variant34 22 . 31503594 100.6 T C PASS 0/1 21 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View combined sample_73.variant34 22 rs62235085
dbSNP Clinvar
37622999 168.83 C T PASS 0/1 17 MOTIF[MA0162.1:Egr1] LOW None 0.32768 0.32770 None None None None None None RAC2|0.602833016|11.7%
View combined sample_73.variant34 1 rs209574
dbSNP Clinvar
40840272 384.06 T C PASS 0/1 39 MOTIF[MA0162.1:Egr1] LOW None None None None None None None SMAP2|0.44905213|18.19%
View combined sample_73.variant34 X rs5955750
dbSNP Clinvar
19361961 1352.02 G A PASS 1/1 53 MOTIF[MA0162.1:Egr1] MODIFIER None 0.26517 0.26520 None None None None None None None
View combined sample_73.variant34 1 . 44679162 819.99 G C PASS 0/1 60 MOTIF[MA0162.1:Egr1] LOW None None None None None None None DMAP1|0.644652957|10.29%
View combined sample_73.variant34 2 rs12692386
dbSNP Clinvar
9695906 617.1 A G PASS 1/1 55 MOTIF[MA0162.1:Egr1] MODIFIER None 0.60883 0.60880 None None None None None None ADAM17|0.398835803|20.86%
View combined sample_73.variant34 2 rs58059561
dbSNP Clinvar
98262402 364.8 C T PASS 0/1 23 MOTIF[MA0162.1:Egr1] LOW None 0.05192 0.05192 None None None None None None None
View combined sample_73.variant34 2 rs524012
dbSNP Clinvar
219433273 229.63 T G PASS 0/1 26 MOTIF[MA0162.1:Egr1] MODIFIER None 0.66274 0.66270 None None None None None None None
View combined sample_73.variant34 3 rs968588
dbSNP Clinvar
52489564 403.62 A T PASS 1/1 9 MOTIF[MA0162.1:Egr1] MODIFIER None 0.97125 0.97120 None None None None None None NISCH|0.147521349|43.38%
View combined sample_73.variant34 5 . 443344 137.76 GG... GG... PASS 1/1 31 MOTIF[MA0162.1:Egr1] LOW None None None None None None None EXOC3|0.113521181|48.58%
View combined sample_73.variant34 5 rs976886272
dbSNP Clinvar
150632400 118.65 G C PASS 0/1 8 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None GM2A|0.00525441|85.49%
View combined sample_73.variant34 5 rs2591464
dbSNP Clinvar
180288455 405.63 G C PASS 1/1 12 MOTIF[MA0162.1:Egr1] LOW None 0.82089 0.82090 None None None None None None None
View combined sample_73.variant34 10 rs12247015
dbSNP Clinvar
60145079 313.33 A G PASS 0/1 115 MOTIF[MA0162.1:Egr1] MODIFIER None 0.44529 0.44530 None None None None None None TFAM|0.115164564|48.27%
View combined sample_73.variant34 10 rs186518384
dbSNP Clinvar
104953065 43.72 C T PASS 0/1 6 MOTIF[MA0162.1:Egr1] LOW None 0.01597 0.01597 None None None None None None None
View combined sample_73.variant34 11 rs575766409
dbSNP Clinvar
236370 175.33 C CC... PASS 1/1 2 MOTIF[MA0162.1:Egr1] LOW None 0.66813 0.66810 0.26736 None None None None None None SIRT3|0.04850739|63.11%
View combined sample_73.variant34 16 rs1386092
dbSNP Clinvar
4675116 2482.73 G T PASS 1/1 107 MOTIF[MA0162.1:Egr1] LOW None 0.71965 0.71960 None None None None None None MGRN1|0.132392343|45.56%
View combined sample_73.variant34 16 rs71390484
dbSNP Clinvar
84651757 424.64 G C PASS 1/1 10 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View combined sample_73.variant34 17 rs767223958,rs568005299
dbSNP Clinvar
80170617 3075.88 C CC... PASS 0/1 73 MOTIF[MA0162.1:Egr1] LOW None 0.26540 None None None None None None CCDC57|0.000772577|96.85%
View combined sample_73.variant34 18 rs1077511
dbSNP Clinvar
77748525 222.57 A C PASS 1/1 41 MOTIF[MA0162.1:Egr1] MODIFIER None 0.79812 0.79810 None None None None None None TXNL4A|0.151661677|42.73%
View combined sample_73.variant34 18 rs9952181
dbSNP Clinvar
77794410 702.96 C T PASS 1/1 30 MOTIF[MA0162.1:Egr1] LOW None 0.20447 0.20450 None None None None None None RBFA|0.002028782|90.91%
View combined sample_73.variant34 19 rs10419483
dbSNP Clinvar
13208737 2942.27 A T PASS 1/1 76 MOTIF[MA0162.1:Egr1] MODIFIER None 0.99940 0.99940 None None None None None None NFIX|0.983719259|1.34%
View combined sample_73.variant34 19 . 56159796 4602.25 CG... CG... PASS 0/1 100 MOTIF[MA0162.1:Egr1] LOW None None None None None None None CCDC106|0.028132476|70.36%
View combined sample_73.variant34 19 rs524988
dbSNP Clinvar
56632532 343.18 A G PASS 1/1 7 MOTIF[MA0162.1:Egr1] MODIFIER None 0.89717 0.89720 None None None None None None ZNF787|0.019734697|74.33%
View combined sample_73.variant34 22 rs62218641
dbSNP Clinvar
20379008 48.97 G A PASS 1/1 3 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View combined sample_73.variant34 22 . 21057458 127.23 G A PASS 0/1 80 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View combined sample_73.variant34 22 . 21057516 30.35 C T PASS 0/1 29 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View combined sample_73.variant34 X rs1473666
dbSNP Clinvar
7066051 4571.31 A C PASS 1/1 79 MOTIF[MA0162.1:Egr1] MODIFIER None 0.71417 0.71420 0.29206 None None None None None None HDHD1|0.006081367|84.49%
View combined sample_73.variant34 1 rs10645094,rs199535458
dbSNP Clinvar
40840270 233.71 T TGC PASS 0/1 40 MOTIF[MA0162.1:Egr1] LOW None None None None None None None SMAP2|0.44905213|18.19%
View combined sample_73.variant34 1 rs12136064
dbSNP Clinvar
43312506 870.93 G C PASS 0/1 65 MOTIF[MA0162.1:Egr1] MODIFIER None 0.16873 0.16870 None None None None None None ZNF691|0.055229937|61.14%
View combined sample_73.variant34 2 rs112131411
dbSNP Clinvar
239007222 77.07 C A PASS 0/1 24 MOTIF[MA0162.1:Egr1] MODIFIER None 0.49621 0.49620 None None None None None None SCLY|0.013575534|78.15%
View combined sample_73.variant34 2 rs28576957
dbSNP Clinvar
239007232 56.86 A G PASS 0/1 22 MOTIF[MA0162.1:Egr1] MODIFIER None 0.52476 0.52480 None None None None None None SCLY|0.013575534|78.15%
View combined sample_73.variant34 2 . 239007259 116.61 TGGG T,... PASS 0/1 23 MOTIF[MA0162.1:Egr1] LOW None None None None None None None SCLY|0.013575534|78.15%
View combined sample_73.variant34 2 rs72985160
dbSNP Clinvar
239007292 121.44 C A PASS 0/1 19 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None SCLY|0.013575534|78.15%
View combined sample_73.variant34 5 rs3102159
dbSNP Clinvar
10761500 141.01 G A PASS 1/1 4 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View combined sample_73.variant34 5 rs198355
dbSNP Clinvar
10761507 106.77 G A PASS 1/1 3 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View combined sample_73.variant34 6 rs11441776,rs397790604
dbSNP Clinvar
138725317 156.5 C CG PASS 1/1 25 MOTIF[MA0162.1:Egr1] LOW None 0.19189 0.19190 None None None None None None HEBP2|0.031821539|68.69%
View combined sample_73.variant34 7 rs77360178,rs79070614
dbSNP Clinvar
4777070 832.33 CGT C PASS 0/1 34 MOTIF[MA0162.1:Egr1] LOW None None None None None None None FOXK1|0.056151598|60.88%
View combined sample_73.variant34 7 rs1584613
dbSNP Clinvar
32530105 747.62 G C PASS 0/1 38 MOTIF[MA0162.1:Egr1] LOW None 0.00200 0.74860 None None None None None None LSM5|0.889080271|3.71%
View combined sample_73.variant34 9 rs13299681
dbSNP Clinvar
37422520 1498.07 C T PASS 0/1 88 MOTIF[MA0162.1:Egr1] LOW None 0.22264 0.22260 None None None None None None None
View combined sample_73.variant34 9 rs67294455
dbSNP Clinvar
37422521 922.04 CA C PASS 0/1 89 MOTIF[MA0162.1:Egr1] LOW None 0.40256 0.40260 None None None None None None None
View combined sample_73.variant34 10 rs780962014,rs57069965
dbSNP Clinvar
71168620 792.44 GC... G PASS 0/1 13 MOTIF[MA0162.1:Egr1] LOW None None None None None None None TACR2|0.074747696|56.35%
View combined sample_73.variant34 10 . 94608201 134.06 G C PASS 0/1 25 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None EXOC6|0.727371277|7.76%
View combined sample_73.variant34 11 rs2786801
dbSNP Clinvar
32914791 250.94 G C PASS 1/1 5 MOTIF[MA0162.1:Egr1] LOW None None None None None None None QSER1|0.186112132|38.25%
View combined sample_73.variant34 11 rs2165163
dbSNP Clinvar
74660143 1159.9 G C PASS 1/1 89 MOTIF[MA0162.1:Egr1] LOW None 0.26877 0.26880 None None None None None None XRRA1|0.047161728|63.53%
View combined sample_73.variant34 12 rs11571383
dbSNP Clinvar
1058756 636.95 T TC PASS 0/1 61 MOTIF[MA0162.1:Egr1] LOW None 0.08906 0.08906 None None None None None None RAD52|0.088397129|53.56%
View combined sample_73.variant34 16 rs1349756
dbSNP Clinvar
81040492 3631.15 T C PASS 1/1 104 MOTIF[MA0162.1:Egr1] MODIFIER None 0.94868 0.94870 None None None None None None CMC2|0.269584556|29.9%,CENPN|0.20658682|35.94%
View combined sample_73.variant34 16 rs111494487
dbSNP Clinvar
88949011 444.06 T G PASS 0/1 22 MOTIF[MA0162.1:Egr1] MODIFIER None 0.01018 0.01018 None None None None None None CBFA2T3|0.054882629|61.22%
View combined sample_73.variant34 17 rs537925971,rs370314904
dbSNP Clinvar
6347681 95.26 C CGG PASS 0/1 25 MOTIF[MA0162.1:Egr1] LOW None 0.00300 0.00300 None None None None None None None
View combined sample_73.variant34 17 rs139223575,rs77051465
dbSNP Clinvar
7123240 7277.54 T C,... PASS 0/2 179 MOTIF[MA0162.1:Egr1] LOW None 0.00679 0.00679 0.45172 None None None None None None ACADVL|0.231050725|33.28%
View combined sample_73.variant34 17 rs116306590
dbSNP Clinvar
63534200 282.05 C G PASS 0/1 12 MOTIF[MA0162.1:Egr1] LOW None 0.01378 0.01378 None None None None None None AXIN2|0.837375797|4.92%
View combined sample_73.variant34 19 rs112570276
dbSNP Clinvar
1863628 557.24 A C PASS 1/1 33 MOTIF[MA0162.1:Egr1] MODIFIER None 1.00000 1.00000 None None None None None None None
View combined sample_73.variant34 19 rs3760832
dbSNP Clinvar
46974728 660.18 C T PASS 1/1 36 MOTIF[MA0162.1:Egr1] MODIFIER None 0.74621 0.74620 None None None None None None PNMAL1|0.001937297|91.15%
View combined sample_73.variant34 21 rs755078619
dbSNP Clinvar
47603378 875.13 C G PASS 0/1 20 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None SPATC1L|0.043289483|64.74%
View combined sample_73.variant34 21 rs767533497
dbSNP Clinvar
47603379 875.13 G T PASS 0/1 17 MOTIF[MA0162.1:Egr1] LOW None None None None None None None SPATC1L|0.043289483|64.74%
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