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: 52
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_96.variant41 1 rs199641326,rs540224749,rs796773700
dbSNP Clinvar
211280724 817.36 TAA TA... PASS 2/3 73 None None None 0.17590 None None None None None None KCNH1|0.372823815|22.54%
View combined sample_96.variant41 2 rs3081153
dbSNP Clinvar
75719537 548.19 T TA... PASS 2/3 69 None None None 0.26218 None None None None None None EVA1A|0.072029356|56.98%
View combined sample_96.variant41 2 rs201780815
dbSNP Clinvar
135208354 40.34 AG... AG... PASS 2/3 31 None None None None None None None None None MGAT5|0.683509788|8.97%
View combined sample_96.variant41 2 rs773734065
dbSNP Clinvar
175614908 1387.42 CAAA C,... PASS 2/3 62 None None None None None None None None None CHRNA1|0.367983882|22.86%
View combined sample_96.variant41 3 rs532381649
dbSNP Clinvar
47484723 53.87 TA... TA... PASS 2/3 7 None None None 0.87560 0.87560 None None None None None None SCAP|0.189534657|37.87%
View combined sample_96.variant41 3 rs6549778
dbSNP Clinvar
75785423 4498.64 T A,C,G PASS 2/3 101 None None None 0.66034 0.66030 None None None None None None ZNF717|0.000754901|96.97%
View combined sample_96.variant41 4 rs150336347
dbSNP Clinvar
154623914 1965.7 TT... TT... PASS 2/3 172 None None None None None None None None None TLR2|0.139670648|44.44%
View combined sample_96.variant41 4 . 187088665 919.21 CA... C,... PASS 2/3 30 None None None None None None None None None FAM149A|0.005566361|85.14%
View combined sample_96.variant41 6 rs764235619,rs76061129
dbSNP Clinvar
108190976 1638.63 GT... GT... PASS 2/3 81 None None None None None None None None None SEC63|0.687731816|8.89%
View combined sample_96.variant41 7 rs879061749
dbSNP Clinvar
139030987 79.43 CA C,... PASS 2/3 17 None None None None None None None None None C7orf55|0.158985625|41.72%,C7orf55-LUC7L2|0.587565648|12.24%,LUC7L2|0.474365338|16.99%
View combined sample_96.variant41 8 . 90939522 47.75 TA T,... PASS 2/3 167 None None None None None None None None None OSGIN2|0.323792821|25.88%
View combined sample_96.variant41 10 rs147046336
dbSNP Clinvar
135235404 1005.25 C CG... PASS 2/3 34 None None None None None None None None None SPRN|0.004340936|86.55%
View combined sample_96.variant41 12 . 99007086 901.77 ATG AT... PASS 2/3 21 None None None None None None None None None None
View combined sample_96.variant41 12 . 117905724 296.57 GT G,... PASS 2/3 38 None None None None None None None None None KSR2|0.376897848|22.26%
View combined sample_96.variant41 13 rs72317694,rs71088015
dbSNP Clinvar
52707751 1801.92 TC... TC... PASS 2/3 37 None None None None None None None None None NEK3|0.085070431|54.18%
View combined sample_96.variant41 14 . 101013117 974.53 GCACA GC... PASS 2/3 38 None None None None None None None None None BEGAIN|0.056726964|60.75%
View combined sample_96.variant41 15 . 83876434 1251.92 CCCG CC... PASS 2/3 26 None None None None None None None None None None
View combined sample_96.variant41 18 rs747044721,rs77233225
dbSNP Clinvar
19110466 371.07 TGG TG... PASS 2/3 9 None None None None None None None None None ESCO1|0.296642076|27.91%
View combined sample_96.variant41 18 . 19284677 1091.09 C CG... PASS 2/3 58 None None None 0.24986 None None None None None None ABHD3|0.175451093|39.58%
View combined sample_96.variant41 19 rs145550390
dbSNP Clinvar
11598793 122.83 T TT... PASS 2/3 7 None None None 0.03075 0.03634 None None None None None None ZNF653|0.122895723|46.98%
View combined sample_96.variant41 19 rs149867911,rs780669187
dbSNP Clinvar
14992178 160.19 CT... C,... PASS 2/3 8 None None None None None None None None None OR7A17|0.00164094|92.16%
View combined sample_96.variant41 20 rs796960164
dbSNP Clinvar
57266749 259.3 CT... CT... PASS 2/3 31 None None None None None None None None None NPEPL1|0.075411836|56.19%
View combined sample_96.variant41 1 rs67195007
dbSNP Clinvar
176660047 699.68 TAA T,... PASS 2/3 53 None None None None None None None None None PAPPA2|0.127445387|46.27%
View combined sample_96.variant41 2 rs71402983
dbSNP Clinvar
71708825 160.48 T TA... PASS 2/3 14 None None None None None None None None None DYSF|0.429167677|19.17%
View combined sample_96.variant41 3 . 42688795 922.38 G GT... PASS 2/3 29 None None None None None None None None None NKTR|0.680127655|9.07%
View combined sample_96.variant41 3 rs138742044,rs776343390,rs199590463
dbSNP Clinvar
164776647 353.53 T TA... PASS 2/3 10 None None None 0.85603 0.85600 None None None None None None SI|0.05249821|61.91%
View combined sample_96.variant41 7 rs146476306,rs59505653
dbSNP Clinvar
31148360 285.25 AT... A,... PASS 2/3 13 None None None None None None None None None ADCYAP1R1|0.378678604|22.14%
View combined sample_96.variant41 8 . 134308937 1047.2 GA... GA... PASS 2/3 35 None None None None None None None None None NDRG1|0.312951849|26.62%
View combined sample_96.variant41 11 rs72363253,rs59563974
dbSNP Clinvar
126968229 2249.17 GCACA G,... PASS 2/3 90 None None None None None None None None None None
View combined sample_96.variant41 13 rs71202243
dbSNP Clinvar
43491778 653.3 G GA... PASS 2/3 20 None None None None None None None None None EPSTI1|0.022063786|73.13%
View combined sample_96.variant41 14 rs779361226
dbSNP Clinvar
60007366 200.39 CT CT... PASS 2/3 21 None None None None None None None None None CCDC175|0.001072555|95.05%
View combined sample_96.variant41 15 rs758785376
dbSNP Clinvar
23606317 149.97 T TT... PASS 2/3 12 None None None None None None None None None GOLGA8S|0.001395246|93.37%
View combined sample_96.variant41 16 rs10633752,rs754696808,rs879757409
dbSNP Clinvar
28950574 149.98 A AG... PASS 2/3 26 None None None None None None None None None CD19|0.205476982|36.07%
View combined sample_96.variant41 18 rs398041419,rs71172389
dbSNP Clinvar
74702113 186.0 AT A,... PASS 2/3 32 None None None None None None None None None MBP|0.741891116|7.33%
View combined sample_96.variant41 1 rs199516755
dbSNP Clinvar
227505212 91.3 TAAAA TA... PASS 2/3 68 None None None 0.27097 0.27100 None None None None None None CDC42BPA|0.577554546|12.69%
View combined sample_96.variant41 2 rs10713676
dbSNP Clinvar
210819045 284.45 GA GA... PASS 2/3 32 None None None 0.19694 None None None None None None UNC80|0.564700553|13.16%
View combined sample_96.variant41 2 rs575215881,rs59571689
dbSNP Clinvar
233408190 264.2 AC A,... PASS 2/3 51 None None None 0.07069 0.07069 None None None None None None CHRNG|0.119728305|47.49%
View combined sample_96.variant41 3 rs879134715
dbSNP Clinvar
62267213 646.03 CT CT... PASS 2/3 46 None None None None None None None None None PTPRG|0.93749185|2.57%
View combined sample_96.variant41 4 rs33919242
dbSNP Clinvar
843622 1704.24 AC A,... PASS 2/3 55 None None None 0.91993 0.91990 None None None None None None GAK|0.037732816|66.55%
View combined sample_96.variant41 7 rs879252389
dbSNP Clinvar
25161641 145.65 CA C,... PASS 2/3 168 None None None None None None None None None CYCS|0.998873025|0.44%
View combined sample_96.variant41 8 rs56338302
dbSNP Clinvar
25272425 2152.36 C CT... PASS 2/3 48 None None None None None None None None None DOCK5|0.411645611|20.08%
View combined sample_96.variant41 15 . 49032812 196.03 CTTTT CT... PASS 2/3 20 None None None None None None None None None CEP152|0.092828159|52.66%
View combined sample_96.variant41 16 rs562521267,rs71152912
dbSNP Clinvar
8734830 762.3 G GC... PASS 2/3 15 None None None 0.86821 0.86820 None None None None None None METTL22|0.012924491|78.54%
View combined sample_96.variant41 16 rs757014543
dbSNP Clinvar
50345710 1621.12 GCCC G,... PASS 2/3 73 None None None None None None None None None ADCY7|0.080648112|55.03%
View combined sample_96.variant41 16 . 70721427 1109.29 TACAC T,... PASS 2/3 26 None None None None None None None None None VAC14|0.317971955|26.23%
View combined sample_96.variant41 17 rs754212503
dbSNP Clinvar
4996470 3390.65 CTTT C,... PASS 2/3 118 None None None None None None None None None ZFP3|0.021228195|73.57%
View combined sample_96.variant41 17 rs757657304
dbSNP Clinvar
77809591 66.53 GC G,... PASS 2/3 116 None None None None None None None None None CBX4|0.061366203|59.47%
View combined sample_96.variant41 18 rs768620147
dbSNP Clinvar
56024396 61.6 ATTT AT... PASS 2/3 40 None None None None None None None None None NEDD4L|0.694589735|8.66%
View combined sample_96.variant41 18 rs200828686,rs869273686,rs558955871
dbSNP Clinvar
60244984 2559.8 TAA T,... PASS 2/3 130 None None None 0.12740 0.38420 None None None None None None ZCCHC2|0.070711397|57.3%
View combined sample_96.variant41 22 . 42390887 377.3 CT... CT... PASS 2/3 70 None None None None None None None None None SEPT3|0.2755259|29.47%
View combined sample_96.variant41 Y rs75046726
dbSNP Clinvar
13489300 253.66 A C,G,T PASS 2/3 8 None None None None None None None None None None
View combined sample_96.variant41 Y . 13489330 482.73 AG AG... PASS 2/3 9 None None None None None None None None None None
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