SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
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
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes:

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 44
Number of Genes: 0

Export to: CSV
  • Page 1 of 1
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_45.variant9 1 rs796782961
dbSNP Clinvar
180171810 2053.67 CAA C,... PASS 4/4 63 None None None None None None None None None QSOX1|0.015895412|76.53%
View combined sample_45.variant9 2 . 37073027 97.04 AA... AA... PASS 4/4 9 None None None None None None None None None STRN|0.401385344|20.67%
View combined sample_45.variant9 2 rs777866057
dbSNP Clinvar
227924817 512.15 GA... GA... PASS 4/4 9 None None None 0.54742 None None None None None None COL4A4|0.099677436|51.24%
View combined sample_45.variant9 3 rs57458521
dbSNP Clinvar
193090101 1488.77 A AA... PASS 4/4 31 None None None None None None None None None ATP13A5|0.051025682|62.36%
View combined sample_45.variant9 4 rs772913369
dbSNP Clinvar
141383034 503.14 TA... TA... PASS 4/4 36 None None None None None None None None None None
View combined sample_45.variant9 6 rs529671152,rs761077341
dbSNP Clinvar
26365702 214.5 C CT... PASS 4/4 5 None None None 0.31689 0.31690 None None None None None None BTN3A2|0.000374625|99.12%
View combined sample_45.variant9 6 rs112588793
dbSNP Clinvar
170167852 54.23 TAC T,... PASS 4/4 35 None None None 0.27656 0.27660 None None None None None None ERMARD|0.005776762|84.87%
View combined sample_45.variant9 8 . 38928984 120.68 CTTT CT... PASS 4/4 10 None None None None None None None None None ADAM9|0.066355581|58.29%
View combined sample_45.variant9 8 rs764536816
dbSNP Clinvar
40388026 49.77 AA... AA... PASS 4/4 2 None None None None None None None None None None
View combined sample_45.variant9 9 rs912130041,rs67422511
dbSNP Clinvar
4600493 205.41 C CA... PASS 4/4 11 None None None None None None None None None SPATA6L|0.02025056|74.04%
View combined sample_45.variant9 13 rs869279981,rs202040102,rs776740532
dbSNP Clinvar
49034022 872.33 ATTC AT... PASS 4/4 30 None None None None None None None None None RB1|0.998226541|0.53%
View combined sample_45.variant9 14 . 65054166 55.98 CT... CT... PASS 4/4 4 None None None None None None None None None PPP1R36|0.100033434|51.18%
View combined sample_45.variant9 14 . 65392929 74.33 CTT CT... PASS 4/4 9 None None None None None None None None None CHURC1|0.248656047|31.65%,CHURC1-FNTB|0.506332309|15.53%,FNTB|0.413954649|19.93%
View combined sample_45.variant9 19 rs782467863
dbSNP Clinvar
42384526 81.61 G GG... PASS 4/4 14 None None None None None None None None None CD79A|0.134050986|45.28%
View combined sample_45.variant9 20 rs878942155
dbSNP Clinvar
4706782 2189.46 AT AT... PASS 4/4 47 None None None None None None None None None PRND|0.009371685|81.4%
View combined sample_45.variant9 21 rs145739787,rs764155369,rs3056303
dbSNP Clinvar
33733468 94.34 A AA... PASS 4/4 8 None None None 0.90790 None None None None None None URB1|0.0146609|77.4%
View combined sample_45.variant9 X rs879988566
dbSNP Clinvar
48844368 212.74 GA... GA... PASS 4/4 9 None None None None None None None None None GRIPAP1|0.120003086|47.43%
View combined sample_45.variant9 2 rs139640315
dbSNP Clinvar
27376376 93.7 C CT... PASS 4/4 5 None None None 0.12380 None None None None None None TCF23|0.027524757|70.65%
View combined sample_45.variant9 2 . 106013467 66.54 GTTT G,... PASS 4/4 9 None None None None None None None None None FHL2|0.377319645|22.24%
View combined sample_45.variant9 2 rs763533045,rs869152888
dbSNP Clinvar
175264627 222.23 CT... CT... PASS 4/4 56 None None None None None None None None None SCRN3|0.337610398|24.99%
View combined sample_45.variant9 2 rs139230913
dbSNP Clinvar
224635214 134.99 T TA... PASS 4/4 7 None None None None None None None None None AP1S3|0.281602068|29.01%
View combined sample_45.variant9 7 rs780401264
dbSNP Clinvar
43665352 622.22 CAGAG CA... PASS 4/4 40 None None None None None None None None None STK17A|0.045556394|64.03%,COA1|0.003135532|88.41%
View combined sample_45.variant9 7 rs560186199,rs10674238
dbSNP Clinvar
128317558 477.41 C CA... PASS 4/4 10 None None None 0.95328 0.95330 None None None None None None FAM71F2|0.01865689|74.89%
View combined sample_45.variant9 10 . 13116128 88.11 AA... AA... PASS 4/4 4 None None None None None None None None None CCDC3|0.140056392|44.39%
View combined sample_45.variant9 12 rs10546862,rs560939706
dbSNP Clinvar
52631510 85.04 ATGTG A,... PASS 4/4 4 None None None None None None None None None KRT7|0.060196302|59.8%
View combined sample_45.variant9 13 rs761318276
dbSNP Clinvar
31722709 108.66 CAAA CA... PASS 4/4 6 None None None None None None None None None HSPH1|0.165535388|40.87%
View combined sample_45.variant9 19 . 52146276 128.62 CA... CA... PASS 4/4 11 None None None None None None None None None SIGLEC5|0.000613659|97.84%,SIGLEC14|0.000956802|95.75%
View combined sample_45.variant9 20 rs747061745
dbSNP Clinvar
44637411 217.37 CC... CC... PASS 4/4 23 None None None None None None None None None None
View combined sample_45.variant9 1 rs879176665
dbSNP Clinvar
211665390 215.66 GG... G,... PASS 4/4 3 None None None None None None None None None RD3|0.062363918|59.23%
View combined sample_45.variant9 2 rs72384788
dbSNP Clinvar
219327898 328.72 AA... AA... PASS 4/4 2 None None None None None None None None None USP37|0.382075694|21.91%
View combined sample_45.variant9 2 rs3841081,rs560535182
dbSNP Clinvar
239970256 478.98 T TA... PASS 4/4 7 None None None 0.14497 0.15730 None None None None None None HDAC4|0.732602049|7.56%
View combined sample_45.variant9 3 . 41960087 103.22 CT... CT... PASS 4/4 13 None None None 0.30378 None None None None None None ULK4|0.102483555|50.69%
View combined sample_45.variant9 3 rs371528831
dbSNP Clinvar
186393073 97.57 GG... GG... PASS 4/4 8 None None None None None None None None None HRG|0.006126069|84.46%
View combined sample_45.variant9 5 rs531666076,rs59417300
dbSNP Clinvar
179660038 97.1 A AA... PASS 4/4 4 None None None None None None None None None None
View combined sample_45.variant9 7 rs539136094
dbSNP Clinvar
107418805 171.37 CT CT... PASS 4/4 11 None None None 0.18171 0.18170 None None None None None None SLC26A3|0.056559277|60.78%
View combined sample_45.variant9 8 rs538261454,rs71276995
dbSNP Clinvar
102681482 3712.04 C CT... PASS 4/4 109 None None None 0.30192 None None None None None None GRHL2|0.351690809|23.98%
View combined sample_45.variant9 9 rs149743267,rs761717267,rs59489637
dbSNP Clinvar
19573483 228.68 AA... A,... PASS 4/4 21 None None None None None None None None None SLC24A2|0.390081282|21.42%
View combined sample_45.variant9 12 rs140835441,rs56226241
dbSNP Clinvar
43827506 207.42 AA... AA... PASS 4/4 8 None None None 0.98143 0.98140 None None None None None None ADAMTS20|0.033294654|68.04%
View combined sample_45.variant9 12 . 44152468 222.6 CC... CC... PASS 4/4 5 MOTIF[MA0162.1:Egr1] LOW None None None None None None None PUS7L|0.032224029|68.51%
View combined sample_45.variant9 12 rs148366068,rs71096022
dbSNP Clinvar
65477609 100.76 C CT... PASS 4/4 4 None None None None None None None None None WIF1|0.616943582|11.2%
View combined sample_45.variant9 15 . 48749040 786.66 CGT CG... PASS 4/4 10 None None None None None None None None None FBN1|0.938751901|2.53%
View combined sample_45.variant9 17 . 18211537 261.52 CA... CA... PASS 4/4 4 None None None None None None None None None TOP3A|0.330525347|25.46%
View combined sample_45.variant9 17 rs386386115,rs55950606
dbSNP Clinvar
41108677 232.76 C CT... PASS 4/4 5 None None None None None None None None None AARSD1|0.162354049|41.25%,PTGES3L-AARSD1|0.118905505|47.59%
View combined sample_45.variant9 19 rs1010716856
dbSNP Clinvar
54491525 159.55 AG... A,... PASS 4/4 8 None None None None None None None None None CACNG8|0.019146405|74.59%
  • Page 1 of 1