SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
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
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Genes at Omim

ARID1A,
ARID1A Coffin-Siris syndrome 2, 614607 (3)

Genes at Clinical Genomics Database

ARID1A,
ARID1A Mental retardation, autosomal dominant 14
Coffin-Siris syndrome 2

Genes at HGMD

Summary

Number of Variants: 59
Number of Genes: 7

Export to: CSV
  • Page 1 of 1

ARID1A

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 manuela_niro 1 . 27099009 767.58 AG... AG... PASS 2/2 177 FRAME_SHIFT HIGH None None None None None None None ARID1A|0.661736896|9.63%

CEP68

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 manuela_niro 2 . 65299161 361.74 CCCG CC... PASS 2/2 60 FRAME_SHIFT HIGH None None None None None None None CEP68|0.00693315|83.58%,RAB1A|0.906392493|3.32%

INTS1

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 manuela_niro 7 . 1527079 227.41 GGGCC G,... PASS 2/2 44 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None INTS1|0.091590581|52.91%

KLHL14

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 manuela_niro 18 . 30350323 223.76 GGC G,GG PASS 2/2 47 FRAME_SHIFT HIGH None None None None None None None KLHL14|0.473561671|17.04%

MAGEC2

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 manuela_niro X . 141291144 498.38 GTTTG GT... PASS 2/2 106 FRAME_SHIFT HIGH None None None None None None None MAGEC2|0.00112702|94.81%

MRPL4

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 manuela_niro 19 . 10368916 186.63 CCCGG C,CG PASS 2/2 47 FRAME_SHIFT HIGH None None None None None None None MRPL4|0.053011614|61.77%

ZIC5

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 manuela_niro 13 . 100617726 484.8 TGG T,TG PASS 2/2 213 FRAME_SHIFT HIGH None None None None None None None ZIC5|0.189825813|37.83%
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 manuela_niro 3 . 130142587 347.16 ATT A,AT PASS 2/2 100 None None None None None None None None None COL6A5|0.015397469|76.88%
View manuela_niro 3 . 139081415 370.47 TTTA T,TT PASS 2/2 80 None None None None None None None None None COPB2|0.481832973|16.66%
View manuela_niro 6 . 42110192 389.82 GC CG,G PASS 2/2 58 None None None None None None None None None C6orf132|0.022955823|72.75%
View manuela_niro 7 . 149508910 732.0 TG GT,T PASS 2/2 146 None None None None None None None None None None
View manuela_niro 8 rs3215410,rs796865866
dbSNP Clinvar
144399856 1060.03 TC GT,T PASS 2/2 138 None None None None None None None None None TOP1MT|0.006768719|83.74%
View manuela_niro 8 rs35695796
dbSNP Clinvar
144652393 258.47 C CC... PASS 2/2 82 None None None 0.16454 0.16450 0.17247 None None None None None None MROH6|0.001968165|91.08%
View manuela_niro 10 rs778510819
dbSNP Clinvar
88458995 445.38 TTTC T,TT PASS 2/2 125 None None None None None None None None None LDB3|0.330839914|25.44%
View manuela_niro 11 . 118279679 144.65 TA... TA... PASS 2/2 34 None None None None None None None None None ATP5L|0.576152146|12.76%
View manuela_niro 12 . 51203226 62.81 GTT G,GT PASS 2/2 15 None None None None None None None None None ATF1|0.419687385|19.6%
View manuela_niro 13 . 100764077 273.82 TGTT T,TT PASS 2/2 45 None None None None None None None None None PCCA|0.430382977|19.12%
View manuela_niro 13 . 114784178 1099.15 TG... TG... PASS 2/2 217 None None None None None None None None None RASA3|0.077068101|55.88%
View manuela_niro 15 rs199979223,rs869228101
dbSNP Clinvar
42553217 2801.38 AAT A,... PASS 2/2 307 None None None None None None None None None TMEM87A|0.238921601|32.52%
View manuela_niro 16 . 7102035 1043.48 CCT CC... PASS 2/2 118 None None None None None None None None None RBFOX1|0.999507918|0.34%
View manuela_niro 17 . 73258086 220.54 GCGG G,GG PASS 2/2 44 None None None None None None None None None GGA3|0.125773495|46.52%,MRPS7|0.30443526|27.34%
View manuela_niro 17 . 73569386 792.32 CG... CG... PASS 2/2 193 None None None None None None None None None LLGL2|0.092090465|52.79%
View manuela_niro 19 . 21909436 199.24 TTTA T,TT PASS 2/2 35 None None None None None None None None None ZNF100|0.001476305|92.87%
View manuela_niro 2 . 32724582 45.48 CTT C,CT PASS 2/2 17 None None None None None None None None None BIRC6|0.553242095|13.58%
View manuela_niro 19 . 35556714 1022.96 GGT G,GG PASS 2/2 176 None None None None None None None None None HPN|0.094787511|52.17%
View manuela_niro 2 rs3841852
dbSNP Clinvar
44101649 89.93 G GC... PASS 2/2 17 None None None 0.00060 0.31570 None None None None None None ABCG8|0.174377842|39.74%
View manuela_niro 1 . 172292359 155.2 T TC... PASS 2/2 69 None None None None None None None None None DNM3|0.611597426|11.42%
View manuela_niro 1 . 153954802 59.41 CA... C,CC PASS 2/2 21 None None None None None None None None None RAB13|0.192271323|37.56%
View manuela_niro 1 . 197515264 818.31 TC... T,TT PASS 2/2 153 None None None None None None None None None DENND1B|0.490308785|16.31%
View manuela_niro 1 rs3835619,rs386369689,rs34917248
dbSNP Clinvar
220153332 178.81 T A,TAA PASS 2/2 19 None None None 0.83646 0.83650 None None None None None None EPRS|0.398951163|20.84%
View manuela_niro 2 . 167060987 276.11 ACAAA A,AA PASS 2/2 50 None None None None None None None None None SCN9A|0.492146994|16.24%
View manuela_niro 3 rs4916502
dbSNP Clinvar
195936446 1088.85 C G,T PASS 2/2 124 None None None 0.56909 0.56910 None None None None None None ZDHHC19|0.019532821|74.42%
View manuela_niro 4 rs9684147,rs149519379,rs370883347,rs57727950
dbSNP Clinvar
3769798 607.82 T C,... PASS 2/2 97 None None None 0.41813 0.41810 None None None None None None ADRA2C|0.032603753|68.35%
View manuela_niro 5 rs796422350
dbSNP Clinvar
96339102 587.84 ACT A,... PASS 2/2 69 None None None 0.00579 0.00579 None None None None None None LNPEP|0.260951487|30.65%
View manuela_niro 6 . 143784031 372.97 ATT A,... PASS 2/2 72 None None None None None None None None None PEX3|0.300795617|27.6%
View manuela_niro 11 . 30601733 176.83 CTT C,CT PASS 2/2 62 None None None None None None None None None MPPED2|0.919656916|3%
View manuela_niro 12 . 10251566 338.52 TGGGC TG... PASS 2/2 72 None None None None None None None None None CLEC1A|0.024263746|72.1%
View manuela_niro 12 . 121151063 475.48 TC... T,TT PASS 2/2 80 None None None None None None None None None UNC119B|0.157390952|41.97%
View manuela_niro 1 . 6530964 393.59 GC CG... PASS 2/2 54 None None None None None None None None None PLEKHG5|0.089142176|53.41%
View manuela_niro 19 . 7697756 311.22 TG... TG... PASS 2/2 60 None None None None None None None None None PCP2|0.034354123|67.67%
View manuela_niro 6 rs797020175
dbSNP Clinvar
97679539 119.45 GGA G,GG PASS 2/2 24 None None None None None None None None None MMS22L|0.348790616|24.23%
View manuela_niro 7 rs760610161
dbSNP Clinvar
50544269 1151.55 AGC A,AC PASS 2/2 199 None None None None None None None None None DDC|0.20754624|35.85%
View manuela_niro 8 rs10671322
dbSNP Clinvar
24211889 156.8 T TG... PASS 2/2 40 None None None None None None None None None ADAM28|0.028862647|69.97%
View manuela_niro 9 rs147565972
dbSNP Clinvar
12708958 1144.36 T A,TA PASS 2/2 126 None None None 0.25978 0.25980 0.48002 None None None None None None TYRP1|0.383239911|21.84%
View manuela_niro 10 rs3063808
dbSNP Clinvar
285480 140.69 T TG... PASS 2/2 37 None None None None None None None None None ZMYND11|0.474328139|16.99%
View manuela_niro 11 rs1008774041
dbSNP Clinvar
1090493 562.6 TCC T,TC PASS 2/2 294 None None None None None None None None None MUC2|0.013216618|78.34%
View manuela_niro 11 . 70002184 2295.49 TAT T,... PASS 2/2 258 None None None None None None None None None ANO1|0.129436977|45.95%
View manuela_niro 11 . 73390771 524.92 GGAA G,GG PASS 2/2 94 None None None None None None None None None RAB6A|0.598840667|11.79%
View manuela_niro 11 rs57878596
dbSNP Clinvar
82561156 119.01 A AA... PASS 2/2 35 None None None 0.19249 0.19250 0.36532 None None None None None None PRCP|0.19665922|37.09%
View manuela_niro 15 . 75130015 110.74 AGG A,AG PASS 2/2 49 MOTIF[MA0139.1:CTCF] LOW None None None None None None None ULK3|0.181646729|38.83%
View manuela_niro 13 . 28602226 1390.43 AA... AA... PASS 2/2 240 None None None None None None None None None FLT3|0.691934663|8.71%
View manuela_niro 14 . 96998642 195.67 TGTT TGT,T PASS 2/2 46 None None None None None None None None None PAPOLA|0.712974411|8.19%
View manuela_niro 15 rs112972949,rs11281932
dbSNP Clinvar
76518346 562.91 C A,... PASS 2/2 62 None None None 0.96865 0.96870 None None None None None None C15orf27|0.074677831|56.37%,ETFA|0.645244621|10.27%
View manuela_niro 6 . 15513399 264.01 CG... CG... PASS 2/2 46 None None None None None None None None None JARID2|0.58982626|12.14%
View manuela_niro 19 rs753750658
dbSNP Clinvar
14294288 287.07 GCC G,GC PASS 2/2 64 None None None None None None None None None ADGRL1|0.155393815|42.23%
View manuela_niro 19 . 14520062 1499.19 TG... TG... PASS 2/2 314 None None None None None None None None None DDX39A|0.191496326|37.66%
View manuela_niro 22 rs33991833,rs59174577,rs368109017
dbSNP Clinvar
31494568 132.64 A AC... PASS 2/2 34 None None None None None None None None None SMTN|0.107386501|49.71%
View manuela_niro 6 . 47685100 143.83 CT... CG... PASS 2/2 27 None None None None None None None None None ADGRF4|0.027234191|70.78%
View manuela_niro 3 . 116163655 346.3 ACAA A,AA PASS 2/2 71 None None None None None None None None None LSAMP|0.999921905|0.17%
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