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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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CADD

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MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

EMX2, ZFHX3,
EMX2 Schizencephaly, 269160 (3)
ZFHX3 Prostate cancer, somatic, 176807 (3)

Genes at Clinical Genomics Database

EMX2,
EMX2 Schizencephaly

Genes at HGMD

Summary

Number of Variants: 86
Number of Genes: 10

Export to: CSV
  • Page 1 of 1

CRIPAK

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_100.variant 4 . 1388757 56.96 T TG... DRAGENHardINDEL 0/1 53 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None CRIPAK|0.000914016|95.95%

EMX2

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_100.variant 10 . 119303008 249.3 A AC DRAGENHardINDEL 0/1 140 FRAME_SHIFT HIGH None None None None None None None EMX2|0.742134957|7.32%

FAM182B

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_100.variant 20 rs775761358
dbSNP Clinvar
25755944 124.59 CA C DRAGENHardINDEL 0/1 65 FRAME_SHIFT HIGH None None None None None None None FAM182B|0.001507273|92.73%

FAM230A

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_100.variant 22 rs774321201
dbSNP Clinvar
20710394 182.14 GA... G DRAGENHardINDEL 0/1 121 CODON_DELETION MODERATE None None None None None None None FAM230A|0.000608157|97.89%,USP41|0.001419633|93.25%
View combined sample_100.variant 22 rs751854287
dbSNP Clinvar
20710854 184.7 AA... A DRAGENHardINDEL 0/1 95 CODON_DELETION MODERATE None None None None None None None FAM230A|0.000608157|97.89%,USP41|0.001419633|93.25%

FRG1B

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_100.variant 20 . 29628274 133.85 TG... T DRAGENHardINDEL 0/1 444 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None FRG1B|0.009509512|81.26%

KAT8

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_100.variant 16 . 31142249 124.53 GG... G DRAGENHardINDEL 0/1 64 FRAME_SHIFT HIGH None None None None None None None KAT8|0.487697621|16.42%

KIAA1522

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_100.variant 1 . 33237878 77.58 T TC... DRAGENHardINDEL 0/1 91 FRAME_SHIFT HIGH None None None None None None None KIAA1522|0.033386063|67.99%

MUC17

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_100.variant 7 . 100678729 76.89 C CAG DRAGENHardINDEL 0/1 553 FRAME_SHIFT HIGH None None None None None None None MUC17|0.000618625|97.79%

OTOP1

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_100.variant 4 rs774796071
dbSNP Clinvar
4228357 34.61 CCAG C DRAGENHardINDEL 0/1 21 CODON_DELETION MODERATE None None None None None None None OTOP1|0.010218112|80.7%

ZFHX3

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_100.variant 16 . 72821342 199.85 GT G DRAGENHardINDEL 0/1 101 FRAME_SHIFT HIGH None None None None None None None ZFHX3|0.937778878|2.56%
View combined sample_100.variant 16 . 72821349 46.36 GA... G DRAGENHardINDEL 0/1 162 FRAME_SHIFT HIGH None None None None None None None ZFHX3|0.937778878|2.56%
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_100.variant 2 rs767848778
dbSNP Clinvar
905802 47.44 CT... C DRAGENHardINDEL 0/1 22 None None None None None None None None None None
View combined sample_100.variant 2 rs879523251
dbSNP Clinvar
105962420 54.07 CA C DRAGENHardINDEL 0/1 81 None None None None None None None None None C2orf49|0.111158901|48.99%
View combined sample_100.variant 3 rs140955523
dbSNP Clinvar
121140949 38.27 GCA G DRAGENHardINDEL 0/1 64 None None None None None None None None None STXBP5L|0.408453725|20.27%
View combined sample_100.variant 4 rs200273114
dbSNP Clinvar
139964674 47.02 CT CTT,C DRAGENHardINDEL 0/1 16 None None None None None None None None None CCRN4L|0.350894093|24.04%,ELF2|0.254346865|31.17%
View combined sample_100.variant 5 . 79276996 75.7 CA C DRAGENHardINDEL 0/1 107 None None None None None None None None None MTX3|0.459194544|17.71%
View combined sample_100.variant 5 rs749306675
dbSNP Clinvar
134236481 261.71 CT C DRAGENHardINDEL 0/1 188 None None None None None None None None None TXNDC15|0.064120164|58.85%
View combined sample_100.variant 7 . 76824479 236.82 A AC DRAGENHardINDEL 0/1 251 None None None None None None None None None CCDC146|0.067335579|58.08%,FGL2|0.120861285|47.3%
View combined sample_100.variant 8 rs534903956
dbSNP Clinvar
27454345 58.94 GGGC G DRAGENHardINDEL 0/1 35 None None None None None None None None None None
View combined sample_100.variant 9 rs747026430
dbSNP Clinvar
116064364 229.3 GT GTT,G DRAGENHardINDEL 0/1 175 None None None None None None None None None RNF183|0.078792489|55.48%
View combined sample_100.variant 10 rs141919091
dbSNP Clinvar
1095411 142.8 CT C DRAGENHardINDEL 0/1 101 MOTIF[MA0079.2:SP1] LOW None None None None None None None None
View combined sample_100.variant 14 rs746660359
dbSNP Clinvar
91690000 91.49 CT C DRAGENHardINDEL 0/1 73 None None None None None None None None None C14orf159|0.005784406|84.85%
View combined sample_100.variant 14 rs373597908
dbSNP Clinvar
92537104 30.06 TC T DRAGENHardINDEL 0/1 129 None None None None None None None None None ATXN3|0.681306976|9.03%
View combined sample_100.variant 15 rs751597138
dbSNP Clinvar
34434105 33.61 GT G DRAGENHardINDEL 0/1 70 None None None None None None None None None KATNBL1|0.389120672|21.47%
View combined sample_100.variant 16 . 5105994 39.7 GT... G DRAGENHardINDEL 0/1 30 None None None None None None None None None ALG1|0.0336465|67.9%,C16orf89|0.005419562|85.31%
View combined sample_100.variant 17 rs113145914
dbSNP Clinvar
21535979 57.71 TCA T DRAGENHardINDEL 0/1 110 None None None None None None None None None None
View combined sample_100.variant 18 rs201969184
dbSNP Clinvar
33272291 48.91 AAT A DRAGENHardINDEL 0/1 22 None None None 0.19229 None None None None None None GALNT1|0.611700553|11.42%
View combined sample_100.variant 20 rs202042518
dbSNP Clinvar
1148206 56.31 AT A DRAGENHardINDEL 0/1 188 None None None None None None None None None PSMF1|0.201334889|36.61%
View combined sample_100.variant 20 rs368904466
dbSNP Clinvar
31954819 85.95 TA TAA,T DRAGENHardINDEL 0/1 68 None None None None None None None None None CDK5RAP1|0.141646377|44.19%
View combined sample_100.variant 22 rs776760592
dbSNP Clinvar
29696468 61.38 GT GTT,G DRAGENHardINDEL 0/1 93 None None None None None None None None None EWSR1|0.970999342|1.68%
View combined sample_100.variant 2 . 89082525 31.35 T TA DRAGENHardINDEL 0/1 37 None None None None None None None None None None
View combined sample_100.variant 2 . 89082529 31.35 C CA... DRAGENHardINDEL 0/1 34 None None None None None None None None None None
View combined sample_100.variant 1 rs201420664
dbSNP Clinvar
185060950 65.12 CT C DRAGENHardINDEL 0/1 22 None None None None None None None None None RNF2|0.513317189|15.22%
View combined sample_100.variant 2 rs749426836
dbSNP Clinvar
191523862 166.14 CT CTT,C DRAGENHardINDEL 0/1 198 None None None None None None None None None NAB1|0.259710649|30.76%
View combined sample_100.variant 5 rs377502370
dbSNP Clinvar
158126222 57.79 TA T DRAGENHardINDEL 0/1 22 None None None None None None None None None EBF1|0.999818623|0.23%
View combined sample_100.variant 5 rs797024245
dbSNP Clinvar
140561212 43.18 CAT C DRAGENHardINDEL 0/1 48 None None None None None None None None None PCDHB16|0.008050003|82.58%
View combined sample_100.variant 6 rs769807217
dbSNP Clinvar
117243181 131.56 CT C DRAGENHardINDEL 0/1 94 None None None None None None None None None RFX6|0.283925863|28.8%
View combined sample_100.variant 7 rs376341608
dbSNP Clinvar
140036919 31.31 AG A DRAGENHardINDEL 0/1 12 None None None None None None None None None SLC37A3|0.024509958|72.03%
View combined sample_100.variant 8 rs762118177
dbSNP Clinvar
92972022 72.99 CT C DRAGENHardINDEL 0/1 134 None None None None None None None None None RUNX1T1|0.998431408|0.5%
View combined sample_100.variant 9 rs200420290
dbSNP Clinvar
3824935 242.66 AT A DRAGENHardINDEL 0/1 120 None None None None None None None None None GLIS3|0.936677564|2.6%
View combined sample_100.variant 9 rs199741861
dbSNP Clinvar
134140111 118.64 AC A DRAGENHardINDEL 0/1 46 None None None 0.41014 0.41010 None None None None None None FAM78A|0.043117947|64.77%
View combined sample_100.variant 9 . 134140112 60.32 C CT DRAGENHardINDEL 0/1 43 None None None 0.41014 0.41010 None None None None None None FAM78A|0.043117947|64.77%
View combined sample_100.variant 10 rs546296001
dbSNP Clinvar
6319884 38.79 GT GTT,G DRAGENHardINDEL 0/1 24 None None None None None None None None None None
View combined sample_100.variant 11 rs773629083
dbSNP Clinvar
16117684 53.05 GA G DRAGENHardINDEL 0/1 23 None None None None None None None None None SOX6|0.997679064|0.59%
View combined sample_100.variant 11 rs879169394
dbSNP Clinvar
85374467 68.67 GA G,GAA DRAGENHardINDEL 0/1 79 None None None None None None None None None CREBZF|0.185882088|38.26%
View combined sample_100.variant 12 . 40880206 604.27 T TATCA DRAGENHardINDEL 0/1 532 None None None None None None None None None MUC19|0.001564481|92.49%
View combined sample_100.variant 12 . 40880207 904.61 G GC... DRAGENHardINDEL 0/1 536 None None None None None None None None None MUC19|0.001564481|92.49%
View combined sample_100.variant 12 rs796616201
dbSNP Clinvar
106500159 35.2 TTA T DRAGENHardINDEL 0/1 105 None None None 0.07768 0.07768 0.43969 None None None None None None NUAK1|0.2583804|30.88%
View combined sample_100.variant 13 rs763080188
dbSNP Clinvar
111932586 41.23 GT G DRAGENHardINDEL 0/1 40 None None None 0.28904 None None None None None None ARHGEF7|0.333638476|25.2%
View combined sample_100.variant 14 rs1023547538
dbSNP Clinvar
102276205 42.4 CT C DRAGENHardINDEL 0/1 38 None None None None None None None None None PPP2R5C|0.180255091|39.02%
View combined sample_100.variant 16 rs575317929
dbSNP Clinvar
46694105 30.05 T TTTG DRAGENHardINDEL 0/1 70 None None None 0.00439 None None None None None None VPS35|0.637218809|10.55%
View combined sample_100.variant 19 rs778834421
dbSNP Clinvar
35590295 32.67 GA G DRAGENHardINDEL 0/1 24 None None None None None None None None None None
View combined sample_100.variant 1 rs879237812
dbSNP Clinvar
86355414 65.01 CT C DRAGENHardINDEL 0/1 32 None None None None None None None None None COL24A1|0.328659161|25.57%
View combined sample_100.variant X . 154287715 202.82 GT GTT,G DRAGENHardINDEL 0/1 146 None None None None None None None None None FUNDC2|0.104863645|50.26%
View combined sample_100.variant 2 rs779997313
dbSNP Clinvar
190448540 78.73 CA... C DRAGENHardINDEL 0/1 43 None None None None None None None None None None
View combined sample_100.variant 4 rs775261105
dbSNP Clinvar
79835054 424.67 CT C DRAGENHardINDEL 0/1 275 None None None None None None None None None BMP2K|0.123580091|46.87%,PAQR3|0.263388599|30.44%
View combined sample_100.variant 7 rs146594017
dbSNP Clinvar
36661637 44.23 ATG A DRAGENHardINDEL 0/1 63 None None None None None None None None None AOAH|0.05743156|60.58%
View combined sample_100.variant 7 rs145929437
dbSNP Clinvar
71178198 32.01 GGT G DRAGENHardINDEL 0/1 77 None None None None None None None None None WBSCR17|0.229160949|33.43%
View combined sample_100.variant 8 rs779944809
dbSNP Clinvar
11177525 55.01 CT C DRAGENHardINDEL 0/1 111 None None None None None None None None None MTMR9|0.127930274|46.2%
View combined sample_100.variant 9 . 66457345 813.92 G GCTCC DRAGENHardINDEL 0/1 478 None None None None None None None None None None
View combined sample_100.variant 9 rs376617644
dbSNP Clinvar
79820202 128.22 CT C DRAGENHardINDEL 0/1 66 None None None None None None None None None VPS13A|0.225004241|33.87%
View combined sample_100.variant 9 rs767660695
dbSNP Clinvar
108268656 31.51 CT C DRAGENHardINDEL 0/1 80 None None None None None None None None None FSD1L|0.400439527|20.74%
View combined sample_100.variant 10 rs773061413
dbSNP Clinvar
63760087 38.71 CT C DRAGENHardINDEL 0/1 19 None None None None None None None None None ARID5B|0.90719341|3.3%
View combined sample_100.variant 11 rs1004908483
dbSNP Clinvar
46912171 37.52 AT A DRAGENHardINDEL 0/1 21 None None None None None None None None None LRP4|0.507499481|15.5%
View combined sample_100.variant 11 . 94758549 49.11 GA G DRAGENHardINDEL 0/1 61 None None None None None None None None None KDM4E|0.001644855|92.14%
View combined sample_100.variant 12 rs747948305
dbSNP Clinvar
4689963 173.44 AT A DRAGENHardINDEL 0/1 103 None None None None None None None None None DYRK4|0.071661902|57.07%
View combined sample_100.variant 12 . 23686843 47.77 TA TAA,T DRAGENHardINDEL 0/1 130 None None None None None None None None None SOX5|0.996082586|0.74%
View combined sample_100.variant 12 rs755387792
dbSNP Clinvar
119560085 55.06 AA... A DRAGENHardINDEL 0/1 14 None None None None None None None None None SRRM4|0.165619588|40.85%
View combined sample_100.variant 13 rs796785396
dbSNP Clinvar
21142318 36.77 TA T DRAGENHardINDEL 0/1 31 None None None None None None None None None IFT88|0.561610181|13.3%
View combined sample_100.variant 14 rs750803823
dbSNP Clinvar
55612006 53.13 TA T DRAGENHardINDEL 0/1 183 None None None None None None None None None LGALS3|0.061083097|59.57%
View combined sample_100.variant 15 rs199934844
dbSNP Clinvar
28518021 109.01 C CG DRAGENHardINDEL 0/1 69 None None None None None None None None None HERC2|0.10570597|50.1%
View combined sample_100.variant 15 . 31293536 209.83 CT CTT,C DRAGENHardINDEL 0/1 125 None None None None None None None None None TRPM1|0.068591647|57.82%
View combined sample_100.variant 15 rs371284414
dbSNP Clinvar
41663884 72.29 TA T,TAA DRAGENHardINDEL 0/1 31 None None None None None None None None None NUSAP1|0.064166774|58.84%
View combined sample_100.variant 15 rs199517955
dbSNP Clinvar
55835269 60.99 TGG T DRAGENHardINDEL 0/1 199 None None None None None None None None None PYGO1|0.209290121|35.65%
View combined sample_100.variant 16 rs773491501
dbSNP Clinvar
9851215 132.74 CT C,CTT DRAGENHardINDEL 0/1 226 None None None None None None None None None None
View combined sample_100.variant 19 rs766476974
dbSNP Clinvar
37235080 202.48 CA C DRAGENHardINDEL 0/1 220 None None None None None None None None None ZNF850|0.001414878|93.27%
View combined sample_100.variant 19 rs200286831
dbSNP Clinvar
58180427 51.35 T TTC DRAGENHardINDEL 0/1 36 None None None None None None None None None ZSCAN4|0.001202144|94.4%
View combined sample_100.variant 20 . 29632570 135.49 AG... A DRAGENHardINDEL 0/1 116 None None None None None None None None None FRG1B|0.009509512|81.26%
View combined sample_100.variant 1 rs758336529
dbSNP Clinvar
38292296 56.9 CT C DRAGENHardINDEL 0/1 28 None None None None None None None None None MTF1|0.41223728|20.03%
View combined sample_100.variant 22 rs371236578
dbSNP Clinvar
23541309 45.49 CA C DRAGENHardINDEL 0/1 55 None None None None None None None None None BCR|0.805888971|5.65%
View combined sample_100.variant 1 rs111518708,rs386366777,rs368774990
dbSNP Clinvar
41456808 33.2 C CT DRAGENHardINDEL 0/1 43 None None None None None None None None None CTPS1|0.728778788|7.7%
View combined sample_100.variant 1 rs373500242
dbSNP Clinvar
65775330 44.67 AT ATT,A DRAGENHardINDEL 0/1 55 None None None None None None None None None DNAJC6|0.217102077|34.73%
View combined sample_100.variant 1 rs370757901
dbSNP Clinvar
114940229 33.16 G GT DRAGENHardINDEL 0/1 28 None None None None None None None None None TRIM33|0.64890231|10.16%
View combined sample_100.variant 1 rs143213703,rs750445970
dbSNP Clinvar
155884832 240.39 TTC T DRAGENHardINDEL 0/1 201 None None None None None None None None None KIAA0907|0.50353306|15.68%
View combined sample_100.variant 2 rs749504249
dbSNP Clinvar
101966202 49.3 CT C DRAGENHardINDEL 0/1 265 None None None None None None None None None CREG2|0.053284783|61.71%
  • Page 1 of 1