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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
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EXCLUDE ALL VARIANTS PRESENT IN DBSNP
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EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

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Genes at Omim

TFAM,
TFAM ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 88
Number of Genes: 10

Export to: CSV
  • Page 1 of 1

CCDC144NL

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_47.variant11 17 rs371295730
dbSNP Clinvar
20768762 71.27 T TC DRAGENHardINDEL 0/1 110 FRAME_SHIFT HIGH None None None None None None None CCDC144NL|0.000779475|96.79%
View combined sample_47.variant11 17 rs139187048
dbSNP Clinvar
20768755 114.73 CT C DRAGENHardINDEL 0/1 107 FRAME_SHIFT HIGH None None None None None None None CCDC144NL|0.000779475|96.79%

CHERP

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_47.variant11 19 rs762824932
dbSNP Clinvar
16640580 37.83 TTGC T DRAGENHardINDEL 0/1 65 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CHERP|0.091471608|52.95%

CNN2

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_47.variant11 19 . 1037806 450.4 G GAC DRAGENHardINDEL 0/1 409 FRAME_SHIFT HIGH None None None None None None None CNN2|0.028130209|70.37%
View combined sample_47.variant11 19 . 1037808 330.45 CCG C DRAGENHardINDEL 0/1 413 FRAME_SHIFT HIGH None None None None None None None CNN2|0.028130209|70.37%

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_47.variant11 4 . 1388757 56.96 T TG... DRAGENHardINDEL 0/1 133 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None CRIPAK|0.000914016|95.95%

GLTSCR1

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_47.variant11 19 . 48197559 33.06 CA... C DRAGENHardINDEL 0/1 16 FRAME_SHIFT HIGH None None None None None None None GLTSCR1|0.038511368|66.29%

HRNR

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_47.variant11 1 . 152192101 49.14 ATC A DRAGENHardINDEL 0/1 399 FRAME_SHIFT HIGH None None None None None None None HRNR|0.000187528|99.8%
View combined sample_47.variant11 1 . 152192097 235.1 C CGG DRAGENHardINDEL 0/1 372 FRAME_SHIFT HIGH None None None None None None None HRNR|0.000187528|99.8%

MAPK7

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_47.variant11 17 . 19285517 98.68 CA C DRAGENHardINDEL 0/1 54 FRAME_SHIFT HIGH None None None None None None None MAPK7|0.118080243|47.73%

NFATC3

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_47.variant11 16 rs151338754
dbSNP Clinvar
68119789 84.39 CTG C DRAGENHardINDEL 0/1 158 None None None None None None None None None NFATC3|0.722612729|7.9%

TFAM

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_47.variant11 10 rs544132101
dbSNP Clinvar
60148569 64.13 CA C DRAGENHardINDEL 0/1 33 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None TFAM|0.115164564|48.27%

TYRO3

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_47.variant11 15 . 41862353 287.76 GG... G DRAGENHardINDEL 0/1 216 None None None None None None None None None TYRO3|0.706738438|8.32%
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_47.variant11 2 rs749426836
dbSNP Clinvar
191523862 166.14 CT CTT,C DRAGENHardINDEL 0/2 179 None None None None None None None None None NAB1|0.259710649|30.76%
View combined sample_47.variant11 3 . 38890774 117.19 TGC T DRAGENHardINDEL 0/1 64 None None None None None None None None None SCN11A|0.032044427|68.6%
View combined sample_47.variant11 3 rs879464711
dbSNP Clinvar
152883395 57.83 CT C DRAGENHardINDEL 0/1 200 None None None None None None None None None RAP2B|0.693623555|8.68%
View combined sample_47.variant11 4 rs200273114
dbSNP Clinvar
139964674 47.02 CT CTT,C DRAGENHardINDEL 0/1 21 None None None None None None None None None CCRN4L|0.350894093|24.04%,ELF2|0.254346865|31.17%
View combined sample_47.variant11 4 rs143220952
dbSNP Clinvar
184938873 41.21 AT A DRAGENHardINDEL 0/1 18 None None None None None None None None None STOX2|0.265604565|30.22%
View combined sample_47.variant11 5 rs747676075
dbSNP Clinvar
72204773 46.91 CA C DRAGENHardINDEL 0/1 40 None None None None None None None None None TNPO1|0.577927625|12.67%
View combined sample_47.variant11 5 rs749306675
dbSNP Clinvar
134236481 261.71 CT C DRAGENHardINDEL 0/1 140 None None None None None None None None None TXNDC15|0.064120164|58.85%
View combined sample_47.variant11 6 rs927751392
dbSNP Clinvar
1395437 41.56 TTG T DRAGENHardINDEL 0/1 48 None None None None None None None None None FOXF2|0.273083947|29.64%
View combined sample_47.variant11 7 . 72950642 43.94 CGG C DRAGENHardINDEL 0/1 91 None None None None None None None None None None
View combined sample_47.variant11 7 . 72950644 37.23 G GC... DRAGENHardINDEL 0/1 87 None None None None None None None None None None
View combined sample_47.variant11 7 . 558911 51.3 A AG DRAGENHardINDEL 0/1 27 None None None None None None None None None PDGFA|0.120955168|47.28%
View combined sample_47.variant11 7 rs774874752
dbSNP Clinvar
138951165 46.26 TA T DRAGENHardINDEL 0/1 38 None None None 0.11080 None None None None None None UBN2|0.352838195|23.88%
View combined sample_47.variant11 7 . 144100603 37.34 T TTCCC DRAGENHardINDEL 0/1 25 None None None None None None None None None NOBOX|0.004829119|86.05%
View combined sample_47.variant11 10 rs754006967
dbSNP Clinvar
50666628 47.07 CA C DRAGENHardINDEL 0/1 221 None None None None None None None None None ERCC6|0.075391491|56.19%
View combined sample_47.variant11 10 . 114925790 470.63 G GC DRAGENHardINDEL 0/1 166 None None None None None None None None None TCF7L2|0.99579985|0.77%
View combined sample_47.variant11 13 rs59246269
dbSNP Clinvar
25910113 47.75 TA T DRAGENHardINDEL 0/1 55 None None None None None None None None None NUPL1|0.393969623|21.14%
View combined sample_47.variant11 13 rs779669476
dbSNP Clinvar
94482865 47.83 TAA TA... DRAGENHardINDEL 0/1 9 None None None None None None None None None GPC6|0.985135102|1.28%
View combined sample_47.variant11 13 rs201160973
dbSNP Clinvar
95715147 62.45 AA... A DRAGENHardINDEL 0/1 51 None None None 0.02935 0.15460 0.22120 None None None None None None ABCC4|0.142494523|44.07%
View combined sample_47.variant11 14 rs563015547
dbSNP Clinvar
29236261 51.37 C CT DRAGENHardINDEL 0/1 24 None None None 0.01238 None None None None None None FOXG1|0.914780098|3.12%
View combined sample_47.variant11 16 rs140492234
dbSNP Clinvar
9849981 96.78 CTG C DRAGENHardINDEL 0/1 167 None None None None None None None None None None
View combined sample_47.variant11 16 . 56936429 37.69 A AG... DRAGENHardINDEL 0/1 43 None None None None None None None None None SLC12A3|0.160952618|41.42%
View combined sample_47.variant11 17 rs113145914
dbSNP Clinvar
21535979 57.71 TCA T DRAGENHardINDEL 0/1 101 None None None None None None None None None None
View combined sample_47.variant11 17 rs748612808
dbSNP Clinvar
35988718 66.7 TA T DRAGENHardINDEL 0/1 70 None None None None None None None None None DDX52|0.446354586|18.34%
View combined sample_47.variant11 17 rs750895000
dbSNP Clinvar
49076857 58.07 T TA DRAGENHardINDEL 0/1 41 None None None None None None None None None SPAG9|0.484154198|16.54%
View combined sample_47.variant11 17 rs34922801
dbSNP Clinvar
49256736 123.99 CT C DRAGENHardINDEL 0/1 47 None None None None None None None None None MBTD1|0.805699599|5.67%
View combined sample_47.variant11 17 rs766706478
dbSNP Clinvar
78147117 47.54 AC... A DRAGENHardINDEL 0/1 29 None None None None None None None None None CARD14|0.016890899|75.93%
View combined sample_47.variant11 19 rs372046352
dbSNP Clinvar
968358 85.64 CA C DRAGENHardINDEL 0/1 43 None None None None None None None None None ARID3A|0.039022569|66.1%
View combined sample_47.variant11 19 . 41113173 48.59 CA C DRAGENHardINDEL 0/1 26 None None None None None None None None None LTBP4|0.091127701|53.01%
View combined sample_47.variant11 22 rs776760592
dbSNP Clinvar
29696468 61.38 GT GTT,G DRAGENHardINDEL 0/1 67 None None None None None None None None None EWSR1|0.970999342|1.68%
View combined sample_47.variant11 22 rs78739798
dbSNP Clinvar
39080204 50.47 TG T DRAGENHardINDEL 0/1 35 None None None None None None None None None TOMM22|0.341303992|24.76%
View combined sample_47.variant11 22 . 39448993 47.29 AT A,ATT DRAGENHardINDEL 0/1 49 None None None None None None None None None APOBEC3F|0.000410636|98.87%,APOBEC3G|0.000537592|98.25%
View combined sample_47.variant11 1 . 19071195 53.42 G GATAA DRAGENHardINDEL 0/1 26 None None None None None None None None None PAX7|0.616917555|11.21%
View combined sample_47.variant11 X rs779164824
dbSNP Clinvar
132670054 48.13 CA C DRAGENHardINDEL 0/1 51 None None None None None None None None None GPC3|0.988007244|1.17%
View combined sample_47.variant11 1 . 53692695 90.6 CATGT CT,C DRAGENHardINDEL 0/1 112 None None None None None None None None None MAGOH|0.724405387|7.86%
View combined sample_47.variant11 1 rs779199744
dbSNP Clinvar
89851722 82.76 G GA DRAGENHardINDEL 0/1 99 None None None None None None None None None GBP6|0.003783559|87.32%
View combined sample_47.variant11 2 rs759083358
dbSNP Clinvar
39201052 60.74 AAT A DRAGENHardINDEL 0/1 19 None None None None None None None None None ARHGEF33|0.317513071|26.27%
View combined sample_47.variant11 2 rs377329876
dbSNP Clinvar
97817726 40.57 G GT DRAGENHardINDEL 0/1 34 None None None None None None None None None ANKRD36|0.001192347|94.46%
View combined sample_47.variant11 10 rs747679961
dbSNP Clinvar
105800352 41.66 AT... A DRAGENHardINDEL 0/1 12 None None None None None None None None None COL17A1|0.220252717|34.39%
View combined sample_47.variant11 11 rs879169394
dbSNP Clinvar
85374467 68.67 GA G,GAA DRAGENHardINDEL 0/1 112 None None None None None None None None None CREBZF|0.185882088|38.26%
View combined sample_47.variant11 11 . 124135787 91.56 G GG... DRAGENHardINDEL 0/1 184 None None None None None None None None None None
View combined sample_47.variant11 11 . 124135776 226.82 TG T DRAGENHardINDEL 0/1 224 None None None None None None None None None None
View combined sample_47.variant11 12 rs756059559,rs55905327
dbSNP Clinvar
95488339 48.03 GA G DRAGENHardINDEL 0/1 35 None None None None None None None None None FGD6|0.090862537|53.07%
View combined sample_47.variant11 14 . 23858266 91.71 T TG... DRAGENHardINDEL 0/1 61 None None None None None None None None None MYH6|0.750925844|7.06%
View combined sample_47.variant11 14 . 70478165 782.84 G GC DRAGENHardINDEL 0/1 166 None None None None None None None None None SMOC1|0.400529531|20.73%
View combined sample_47.variant11 15 . 78288778 51.7 G GGGT DRAGENHardINDEL 0/1 36 None None None None None None None None None TBC1D2B|0.031600795|68.76%
View combined sample_47.variant11 16 . 2569920 604.64 CGTG C DRAGENHardINDEL 0/1 223 None None None None None None None None None ATP6V0C|0.096725952|51.76%
View combined sample_47.variant11 16 . 33739227 468.52 TG... T DRAGENHardINDEL 0/1 234 None None None None None None None None None None
View combined sample_47.variant11 19 . 39591551 129.34 CT... C DRAGENHardINDEL 0/1 65 None None None None None None None None None None
View combined sample_47.variant11 22 . 32257165 37.87 T TC DRAGENHardINDEL 0/1 18 None None None None None None None None None DEPDC5|0.189227738|37.92%
View combined sample_47.variant11 4 . 119632075 161.35 TA TAA,T DRAGENHardINDEL 0/2 121 None None None None None None None None None METTL14|0.34103793|24.78%
View combined sample_47.variant11 X . 154287715 202.82 GT GTT,G DRAGENHardINDEL 0/1 130 None None None None None None None None None FUNDC2|0.104863645|50.26%
View combined sample_47.variant11 5 . 79276996 75.7 CA C DRAGENHardINDEL 0/1 72 None None None None None None None None None MTX3|0.459194544|17.71%
View combined sample_47.variant11 5 rs376782192
dbSNP Clinvar
176516968 79.34 CGT C DRAGENHardINDEL 0/1 77 None None None None None None None None None FGFR4|0.436435134|18.87%
View combined sample_47.variant11 10 rs765618742
dbSNP Clinvar
101473872 70.38 CT C DRAGENHardINDEL 0/1 385 None None None None None None None None None CUTC|0.443820393|18.49%,COX15|0.173446292|39.87%
View combined sample_47.variant11 1 rs560866466
dbSNP Clinvar
232534303 147.56 CT C,CTT DRAGENHardINDEL 0/1 537 None None None None None None None None None SIPA1L2|0.079949704|55.18%
View combined sample_47.variant11 2 rs368058156
dbSNP Clinvar
219614190 62.82 CT CTT,C DRAGENHardINDEL 0/1 28 None None None None None None None None None TTLL4|0.074949486|56.31%
View combined sample_47.variant11 3 . 121724055 59.55 CA C DRAGENHardINDEL 0/1 63 None None None None None None None None None ILDR1|0.070497069|57.37%
View combined sample_47.variant11 3 rs879063908
dbSNP Clinvar
179344053 37.66 AT A DRAGENHardINDEL 0/1 66 None None None None None None None None None NDUFB5|0.177986776|39.3%
View combined sample_47.variant11 1 rs1031864070
dbSNP Clinvar
213124007 43.43 CCAG C DRAGENHardINDEL 0/1 63 None None None None None None None None None VASH2|0.309609438|26.85%
View combined sample_47.variant11 5 rs753479660
dbSNP Clinvar
132029672 47.74 CA C DRAGENHardINDEL 0/1 45 None None None None None None None None None KIF3A|0.779999913|6.32%
View combined sample_47.variant11 6 rs753689475
dbSNP Clinvar
148710092 43.92 TA T DRAGENHardINDEL 0/1 59 None None None None None None None None None SASH1|0.217814889|34.63%
View combined sample_47.variant11 6 rs749085585
dbSNP Clinvar
149846372 47.07 TA T DRAGENHardINDEL 0/1 43 None None None 0.24714 None None None None None None PPIL4|0.371048194|22.65%
View combined sample_47.variant11 7 rs746053853
dbSNP Clinvar
142197700 38.85 CACCG C DRAGENHardINDEL 0/1 177 None None None None None None None None None None
View combined sample_47.variant11 8 rs779580817
dbSNP Clinvar
123683642 40.64 GA G DRAGENHardINDEL 0/1 33 None None None None None None None None None None
View combined sample_47.variant11 10 rs58789809
dbSNP Clinvar
42680838 320.53 GATT G DRAGENHardINDEL 0/1 217 None None None None None None None None None None
View combined sample_47.variant11 12 . 40882013 1380.15 TG... T DRAGENHardINDEL 0/1 692 None None None None None None None None None MUC19|0.001564481|92.49%
View combined sample_47.variant11 12 . 40882020 1153.51 AC... A DRAGENHardINDEL 0/1 746 None None None None None None None None None MUC19|0.001564481|92.49%
View combined sample_47.variant11 12 rs759078232
dbSNP Clinvar
97306603 105.94 AT A DRAGENHardINDEL 0/1 97 None None None 0.32431 None None None None None None NEDD1|0.583785227|12.42%
View combined sample_47.variant11 12 . 116445442 64.52 CT C DRAGENHardINDEL 0/1 38 None None None None None None None None None MED13L|0.748663997|7.11%
View combined sample_47.variant11 15 . 31293536 209.83 CT CTT,C DRAGENHardINDEL 0/1 132 None None None None None None None None None TRPM1|0.068591647|57.82%
View combined sample_47.variant11 15 . 85201528 60.01 CG... C DRAGENHardINDEL 0/1 47 None None None None None None None None None NMB|0.018539893|74.96%
View combined sample_47.variant11 16 . 48266079 89.34 A AC DRAGENHardINDEL 0/1 42 None None None None None None None None None ABCC11|0.006558104|83.99%
View combined sample_47.variant11 17 rs34592714
dbSNP Clinvar
61489968 31.87 CT C DRAGENHardINDEL 0/1 57 None None None None None None None None None TANC2|0.693018722|8.68%
View combined sample_47.variant11 18 rs923494554,rs368841222
dbSNP Clinvar
51679828 34.27 CA C DRAGENHardINDEL 0/1 127 None None None None None None None None None MBD2|0.108592887|49.43%
View combined sample_47.variant11 1 . 161023277 33.36 TC T DRAGENHardINDEL 0/1 22 None None None None None None None None None ARHGAP30|0.052332049|61.97%
  • Page 1 of 1