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INDIVIDUALS:

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 GROUPS:

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INDIVIDUALS:

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SELECT YOUR DISEASES:
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MUTATION TYPE:
 CHR:

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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

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CADD

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EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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+ Genes 1

Genes:
CTU2,

+ Genes associated with diseases 1

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: 79
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 h1esc_mtesr1 samtools indel 16 . 88780634 228.0 AG... AG... PASS 1/1 28 MOTIF[MA0162.1:Egr1] LOW None 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 h1esc_mtesr1 samtools indel 2 . 68479717 212.0 GG... GG... PASS 1/1 5 MOTIF[MA0162.1:Egr1] LOW None None None None None None None PPP3R1|0.920628197|2.96%
View h1esc_mtesr1 samtools indel 3 . 182511238 187.0 CG... CG... PASS 0/1 8 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 4 . 820254 150.0 CG... CG... PASS 1/1 4 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 7 . 4777070 222.0 CG... CG... PASS 0/1 28 MOTIF[MA0162.1:Egr1] LOW None None None None None None None FOXK1|0.056151598|60.88%
View h1esc_mtesr1 samtools indel 9 rs67294455
dbSNP Clinvar 		37422521 156.0 CA C PASS 0/1 24 MOTIF[MA0162.1:Egr1] LOW None 0.40256 0.40260 None None None None None None None
View h1esc_mtesr1 samtools indel 11 . 129765280 178.0 CG CGG PASS 0/1 22 MOTIF[MA0162.1:Egr1] LOW None None None None None None None NFRKB|0.127990738|46.19%
View h1esc_mtesr1 samtools indel 13 . 113687565 221.0 AC... AC PASS 0/1 21 MOTIF[MA0162.1:Egr1] LOW None None None None None None None MCF2L|0.031326843|68.87%
View h1esc_mtesr1 samtools indel 16 . 594715 47.9887 AC... AC... PASS 0/1 5 MOTIF[MA0162.1:Egr1] LOW None None None None None None None CAPN15|0.02555615|71.52%
View h1esc_mtesr1 samtools indel 16 . 49889422 222.0 TC... TC... PASS 0/1 31 MOTIF[MA0162.1:Egr1] LOW None None None None None None None ZNF423|0.858324724|4.5%
View h1esc_mtesr1 samtools indel 16 . 54962288 228.0 CG... CG... PASS 1/1 11 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 16 . 84964403 222.0 GG... GG... PASS 0/1 19 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 16 . 84964441 228.0 TG... TGGG PASS 1/1 10 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 16 . 89653524 104.0 CC... CC... PASS 0/1 14 MOTIF[MA0162.1:Egr1] LOW None None None None None None None CPNE7|0.016959249|75.88%
View h1esc_mtesr1 samtools indel 16 . 89653543 81.0 TC... TC PASS 0/1 13 MOTIF[MA0162.1:Egr1] LOW None None None None None None None CPNE7|0.016959249|75.88%
View h1esc_mtesr1 samtools indel 14 . 93799514 104.0 TG... TG... PASS 1/1 28 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 17 . 76349042 193.0 GG... GG... PASS 1/2 24 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 19 . 5996277 222.0 CC... CC... PASS 0/1 27 MOTIF[MA0162.1:Egr1] LOW None None None None None None None RFX2|0.09042428|53.13%
View h1esc_mtesr1 samtools indel 19 . 45954145 39.9579 GC... GC... PASS 0/1 17 MOTIF[MA0162.1:Egr1] LOW None None None None None None None ERCC1|0.17437384|39.74%
View h1esc_mtesr1 samtools indel 19 . 45954160 41.9692 CC... CC PASS 0/1 12 MOTIF[MA0162.1:Egr1] LOW None None None None None None None ERCC1|0.17437384|39.74%
View h1esc_mtesr1 samtools indel 21 . 46230916 222.0 TG... TG... PASS 0/1 17 MOTIF[MA0162.1:Egr1] LOW None None None None None None None SUMO3|0.107656066|49.66%
View h1esc_mtesr1 samtools indel 21 rs139936877
dbSNP Clinvar 		46230931 40.8299 ATG A PASS 0/1 11 MOTIF[MA0162.1:Egr1] LOW None None None None None None None SUMO3|0.107656066|49.66%
View h1esc_mtesr1 samtools indel 21 rs35287640
dbSNP Clinvar 		46404126 26.6406 C CA PASS 1/1 3 MOTIF[MA0162.1:Egr1] LOW None 0.99082 0.99080 None None None None None None None
View h1esc_mtesr1 samtools indel 22 . 24407559 43.9115 AC... AC... PASS 0/1 11 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 22 . 24407561 109.0 AC... AC... PASS 0/1 7 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 22 . 24407563 87.0 AC... ACAC PASS 0/1 9 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 22 . 31503569 222.0 GC... GC... PASS 0/1 19 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 22 . 31503580 46.7792 GC... GCCCC PASS 0/1 18 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 2 . 47104721 222.0 AC... AC... PASS 0/1 20 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 22 . 45665153 228.0 GG... GG... PASS 1/1 14 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 1 . 811290 224.0 GC... GC... PASS 1/1 7 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 1 . 22231660 180.0 CC... CC... PASS 0/1 20 MOTIF[MA0162.1:Egr1] LOW None None None None None None None HSPG2|0.106943421|49.81%
View h1esc_mtesr1 samtools indel 1 . 40840249 228.0 TT... TT... PASS 1/1 12 MOTIF[MA0162.1:Egr1] LOW None None None None None None None SMAP2|0.44905213|18.19%
View h1esc_mtesr1 samtools indel 1 . 40840268 222.0 CG... CG... PASS 1/1 19 MOTIF[MA0162.1:Egr1] LOW None None None None None None None SMAP2|0.44905213|18.19%
View h1esc_mtesr1 samtools indel 1 . 40840270 104.0 TG TGCG PASS 0/1 8 MOTIF[MA0162.1:Egr1] LOW None None None None None None None SMAP2|0.44905213|18.19%
View h1esc_mtesr1 samtools indel 2 . 42275063 114.0 TG... TG... PASS 0/1 8 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 3 . 196421839 221.0 CC... CC... PASS 0/1 10 MOTIF[MA0162.1:Egr1] LOW None None None None None None None PIGX|0.078491202|55.54%
View h1esc_mtesr1 samtools indel 3 . 196421843 174.0 TA... TA... PASS 0/1 15 MOTIF[MA0162.1:Egr1] LOW None None None None None None None PIGX|0.078491202|55.54%
View h1esc_mtesr1 samtools indel 5 . 443335 228.0 GG... GG... PASS 1/1 11 MOTIF[MA0162.1:Egr1] LOW None None None None None None None EXOC3|0.113521181|48.58%
View h1esc_mtesr1 samtools indel 6 rs200562183
dbSNP Clinvar 		19805035 161.0 GC G PASS 0/1 27 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 9 . 4713898 228.0 AC... AC... PASS 1/1 16 MOTIF[MA0162.1:Egr1] LOW None None None None None None None AK3|0.168943089|40.46%
View h1esc_mtesr1 samtools indel 11 . 64984259 214.0 GG... GG... PASS 1/1 9 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 10 . 71168550 166.0 GC... GC... PASS 0/1 15 MOTIF[MA0162.1:Egr1] LOW None None None None None None None TACR2|0.074747696|56.35%
View h1esc_mtesr1 samtools indel 10 . 103590438 156.0 CC... CC... PASS 0/1 17 MOTIF[MA0162.1:Egr1] LOW None None None None None None None KCNIP2|0.426544442|19.29%
View h1esc_mtesr1 samtools indel 13 . 111214113 106.0 GCCCC GC... PASS 0/1 23 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 16 . 86736910 228.0 CC... CC... PASS 1/1 6 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 14 . 104029188 222.0 CC... CC... PASS 0/1 27 MOTIF[MA0162.1:Egr1] LOW None None None None None None None KLC1|0.436707897|18.85%
View h1esc_mtesr1 samtools indel 15 . 27333392 215.0 CG... CG... PASS 0/1 13 MOTIF[MA0162.1:Egr1] LOW None None None None None None None GABRG3|0.151178389|42.8%
View h1esc_mtesr1 samtools indel 17 . 80709452 58.0 GCCCC GC... PASS 0/1 7 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 19 . 47615559 222.0 TT... TT... PASS 0/1 21 MOTIF[MA0162.1:Egr1] LOW None None None None None None None ZC3H4|0.073878613|56.54%
View h1esc_mtesr1 samtools indel 19 . 52800326 21.619 GC... GCCCC PASS 1/1 3 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 19 . 55587179 222.0 TG... TG... PASS 0/1 25 MOTIF[MA0162.1:Egr1] LOW None None None None None None None EPS8L1|0.007628645|82.92%
View h1esc_mtesr1 samtools indel 20 . 10015547 228.0 GG... GG... PASS 1/1 13 MOTIF[MA0162.1:Egr1] LOW None None None None None None None ANKEF1|0.06517726|58.59%
View h1esc_mtesr1 samtools indel 20 . 61982520 228.0 TCC TCCC PASS 1/1 13 MOTIF[MA0162.1:Egr1] LOW None None None None None None None CHRNA4|0.164276334|40.99%
View h1esc_mtesr1 samtools indel 20 . 61982556 176.0 ACCCA AC... PASS 1/1 7 MOTIF[MA0162.1:Egr1] LOW None None None None None None None CHRNA4|0.164276334|40.99%
View h1esc_mtesr1 samtools indel 1 . 229694557 222.0 TG... TG... PASS 0/1 32 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 2 . 319019 222.0 CG... CG... PASS 0/1 24 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 2 . 319176 150.0 AT... AT... PASS 0/1 9 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 3 rs71153116
dbSNP Clinvar 		127794523 68.0 T TA PASS 0/1 26 MOTIF[MA0162.1:Egr1] LOW None 0.00919 0.19170 None None None None None None RUVBL1|0.805815825|5.67%
View h1esc_mtesr1 samtools indel 3 . 134204833 228.0 GC... GC... PASS 1/1 39 MOTIF[MA0162.1:Egr1] LOW None None None None None None None ANAPC13|0.252416865|31.34%,CEP63|0.16402888|41.02%
View h1esc_mtesr1 samtools indel 2 . 239007262 201.0 GA GA... PASS 0/1 14 MOTIF[MA0162.1:Egr1] LOW None None None None None None None SCLY|0.013575534|78.15%
View h1esc_mtesr1 samtools indel 5 . 177974472 189.0 AC... AC... PASS 1/1 5 MOTIF[MA0162.1:Egr1] LOW None None None None None None None COL23A1|0.040571917|65.58%
View h1esc_mtesr1 samtools indel 6 . 125420660 228.0 AG... AG... PASS 1/1 11 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 7 . 128046251 200.0 GC GCC PASS 1/1 12 MOTIF[MA0162.1:Egr1] LOW None None None None None None None IMPDH1|0.465124322|17.39%
View h1esc_mtesr1 samtools indel 8 . 41685203 228.0 TA... TA... PASS 1/1 14 MOTIF[MA0162.1:Egr1] LOW None None None None None None None ANK1|0.956309863|2.07%
View h1esc_mtesr1 samtools indel 8 . 41685210 162.0 TC... TC... PASS 1/1 4 MOTIF[MA0162.1:Egr1] LOW None None None None None None None ANK1|0.956309863|2.07%
View h1esc_mtesr1 samtools indel 8 . 41685252 228.0 CC... CC... PASS 1/1 14 MOTIF[MA0162.1:Egr1] LOW None None None None None None None ANK1|0.956309863|2.07%
View h1esc_mtesr1 samtools indel 8 . 41685258 72.0 AC ACCC PASS 0/1 9 MOTIF[MA0162.1:Egr1] LOW None None None None None None None ANK1|0.956309863|2.07%
View h1esc_mtesr1 samtools indel 8 . 146023918 54.0 GC... GCCCC PASS 0/1 21 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 11 . 62494700 222.0 GC... GC... PASS 0/1 30 MOTIF[MA0162.1:Egr1] LOW None None None None None None None HNRNPUL2|0.214272317|35.08%
View h1esc_mtesr1 samtools indel 11 . 47377325 55.0 AC... AC... PASS 1/1 13 MOTIF[MA0162.1:Egr1] LOW None None None None None None None SPI1|0.446158784|18.35%
View h1esc_mtesr1 samtools indel 12 . 116797099 228.0 GG... GG... PASS 1/1 10 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 12 . 125221197 186.0 GC... GC... PASS 0/1 20 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 17 . 29876979 222.0 CG... CG... PASS 0/1 21 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 18 . 6729591 193.0 AC AC... PASS 1/2 18 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel 21 . 34915849 228.0 TC TCC PASS 1/1 20 MOTIF[MA0162.1:Egr1] LOW None None None None None None None SON|0.888046632|3.75%
View h1esc_mtesr1 samtools indel X . 152041139 228.0 GG... GG... PASS 1/1 8 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel X . 152041245 228.0 GG... GG... PASS 1/1 14 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View h1esc_mtesr1 samtools indel X . 152041308 228.0 TT... TT... PASS 1/1 6 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
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