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SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

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 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

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SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
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MUTATION TYPE:
 CHR:

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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

Genes:

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 47
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_69.variant30 1 rs34673312
dbSNP Clinvar 		16388875 453.86 GCCC GC... PASS 3/1 48 None None None None None None None None None FAM131C|0.04418274|64.46%
View combined sample_69.variant30 2 rs3036132
dbSNP Clinvar 		1442551 264.11 ATTTT AT... PASS 3/1 58 None None None 0.35503 0.35500 None None None None None None TPO|0.016656736|76.12%
View combined sample_69.variant30 2 rs377160464
dbSNP Clinvar 		95537871 278.28 GC GC... PASS 3/1 22 None None None 0.10623 0.10620 None None None None None None TEKT4|0.003341309|88.03%
View combined sample_69.variant30 4 rs368300399,rs72109716,rs3832280
dbSNP Clinvar 		39452481 4128.91 G GA... PASS 3/1 95 None None None None None None None None None KLB|0.053916364|61.49%
View combined sample_69.variant30 5 rs774432736
dbSNP Clinvar 		146969009 1027.97 CAAA CA... PASS 3/1 32 None None None None None None None None None JAKMIP2|0.38627918|21.66%
View combined sample_69.variant30 6 rs139759146
dbSNP Clinvar 		97372677 596.79 GC... GC... PASS 3/1 34 None None None None None None None None None KLHL32|0.760276329|6.82%
View combined sample_69.variant30 7 rs200396435,rs531376380
dbSNP Clinvar 		138453892 933.51 GAAA GA... PASS 3/1 24 None None None 0.09645 None None None None None None ATP6V0A4|0.084008171|54.41%
View combined sample_69.variant30 8 rs796400108,rs200587602
dbSNP Clinvar 		28909415 467.32 TA... TA... PASS 3/1 51 None None None 0.30252 0.30250 None None None None None None HMBOX1|0.694571346|8.66%
View combined sample_69.variant30 10 rs199883895
dbSNP Clinvar 		6157835 633.55 TA... TA... PASS 3/1 62 None None None None None None None None None RBM17|0.330513979|25.46%
View combined sample_69.variant30 11 rs10558787,rs58196618
dbSNP Clinvar 		19246016 2143.85 ATGTG AT... PASS 3/1 52 None None None None None None None None None E2F8|0.285797306|28.67%
View combined sample_69.variant30 11 rs776747236
dbSNP Clinvar 		62040694 5257.61 TAC TA... PASS 3/1 150 None None None None None None None None None None
View combined sample_69.variant30 16 rs575843043,rs79920553
dbSNP Clinvar 		8995177 574.08 GAAAA GA... PASS 3/1 28 None None None 0.01318 0.02396 None None None None None None USP7|0.774291764|6.46%
View combined sample_69.variant30 17 rs546184869
dbSNP Clinvar 		38152373 145.7 CAA CA... PASS 3/1 26 None None None 0.05671 None None None None None None PSMD3|0.535872634|14.38%
View combined sample_69.variant30 19 rs766483346
dbSNP Clinvar 		7744075 1060.03 ACCC AC... PASS 3/1 109 None None None None None None None None None MCEMP1|0.000349414|99.23%
View combined sample_69.variant30 19 rs74268449,rs398059756
dbSNP Clinvar 		44931670 3001.98 TAAA TA... PASS 3/1 63 None None None 0.10982 0.10980 None None None None None None ZNF229|0.00082353|96.52%
View combined sample_69.variant30 19 rs145391367
dbSNP Clinvar 		49401205 357.92 CTTAT CT... PASS 3/1 5 None None None None None None None None None TULP2|0.00217489|90.49%
View combined sample_69.variant30 19 . 56296858 942.53 GT... GA... PASS 3/1 61 None None None None None None None None None NLRP11|0.00041918|98.84%
View combined sample_69.variant30 1 rs200909380,rs549032388
dbSNP Clinvar 		115238016 708.48 CAA CA... PASS 3/1 26 None None None 0.16870 None None None None None None AMPD1|0.217023192|34.75%
View combined sample_69.variant30 1 rs771642779
dbSNP Clinvar 		203698672 226.51 CAA CA... PASS 3/1 35 None None None None None None None None None ATP2B4|0.129216879|45.98%
View combined sample_69.variant30 2 . 37384053 1215.73 GC... GC... PASS 3/1 39 None None None None None None None None None EIF2AK2|0.002485769|89.74%
View combined sample_69.variant30 3 rs148503675
dbSNP Clinvar 		13858920 571.15 TA... TA... PASS 3/1 41 None None None None None None None None None WNT7A|0.398025422|20.9%
View combined sample_69.variant30 2 rs775545588
dbSNP Clinvar 		228142038 342.85 GAAA GA... PASS 3/1 16 None None None None None None None None None COL4A3|0.119573089|47.51%
View combined sample_69.variant30 3 rs770031001
dbSNP Clinvar 		119348345 1092.9 AT AT... PASS 3/1 54 None None None None None None None None None PLA1A|0.038413908|66.33%
View combined sample_69.variant30 5 rs11442944
dbSNP Clinvar 		4095683 223.9 C CT... PASS 3/1 11 None None None 0.47704 0.47700 None None None None None None None
View combined sample_69.variant30 6 rs372769301,rs71685054,rs58914911
dbSNP Clinvar 		158518875 1561.14 T TA... PASS 3/1 64 None None None None None None None None None SYNJ2|0.047685305|63.42%
View combined sample_69.variant30 8 rs765528006
dbSNP Clinvar 		95718131 819.65 CT... CT... PASS 3/1 53 None None None None None None None None None ESRP1|0.458423796|17.77%
View combined sample_69.variant30 8 rs149851445
dbSNP Clinvar 		139774852 1641.63 C CA... PASS 3/1 39 None None None 0.55611 None None None None None None COL22A1|0.06710202|58.12%
View combined sample_69.variant30 11 . 47610271 638.29 AG... AG... PASS 3/1 21 None None None None None None None None None FAM180B|0.044632193|64.28%
View combined sample_69.variant30 11 . 75152588 711.22 CGTGT CG... PASS 3/1 13 None None None None None None None None None GDPD5|0.159237794|41.7%
View combined sample_69.variant30 11 . 130100308 662.21 GT GT... PASS 3/1 76 None None None None None None None None None ZBTB44|0.491404148|16.26%
View combined sample_69.variant30 12 rs747529865,rs543854308
dbSNP Clinvar 		129566284 331.91 ATT AT... PASS 3/1 59 None None None 0.18110 None None None None None None TMEM132D|0.011740476|79.41%
View combined sample_69.variant30 14 rs756696036
dbSNP Clinvar 		70496919 385.12 CTT CT... PASS 3/1 54 None None None None None None None None None SMOC1|0.400529531|20.73%
View combined sample_69.variant30 14 rs796131864,rs542313836,rs148944474
dbSNP Clinvar 		68191109 1971.56 GTTT GT... PASS 3/1 62 None None None 0.31950 None None None None None None RDH12|0.245292064|32%
View combined sample_69.variant30 15 rs71708360
dbSNP Clinvar 		81665211 328.45 CGT CG... PASS 3/1 12 None None None None None None None None None TMC3|0.01168327|79.46%
View combined sample_69.variant30 16 rs34204387,rs5816746
dbSNP Clinvar 		51177327 2350.66 G GA... PASS 3/1 67 None None None 0.92392 0.92390 None None None None None None SALL1|0.807151405|5.63%
View combined sample_69.variant30 17 rs151241907
dbSNP Clinvar 		79390260 931.53 G GG... PASS 3/1 101 None None None 0.00899 0.17550 None None None None None None None
View combined sample_69.variant30 18 rs778138465
dbSNP Clinvar 		52585071 1594.1 GA... GA... PASS 3/1 40 None None None None None None None None None CCDC68|0.06035994|59.77%
View combined sample_69.variant30 19 rs57244256,rs796650954
dbSNP Clinvar 		45024879 308.6 CGT CG... PASS 3/1 33 None None None None None None None None None None
View combined sample_69.variant30 1 . 45472798 1780.35 TT... TT... PASS 3/1 36 None None None None None None None None None HECTD3|0.250276823|31.5%
View combined sample_69.variant30 2 rs761915740
dbSNP Clinvar 		118771682 2400.9 TG... TG... PASS 3/1 30 None None None None None None None None None CCDC93|0.212957266|35.25%
View combined sample_69.variant30 3 . 38411731 464.09 GCA GC... PASS 3/1 15 None None None None None None None None None XYLB|0.051125156|62.31%
View combined sample_69.variant30 4 rs200986568,rs375941904
dbSNP Clinvar 		190394938 1211.32 CA... CA... PASS 3/1 25 None None None None None None None None None None
View combined sample_69.variant30 5 . 126250459 1683.39 AAC AA... PASS 3/1 22 None None None None None None None None None MARCH3|0.588762581|12.17%
View combined sample_69.variant30 11 rs150627444,rs386374030,rs55687530
dbSNP Clinvar 		66036293 1092.64 A AC... PASS 3/1 39 None None None 0.74940 0.74940 None None None None None None RAB1B|0.461798778|17.59%
View combined sample_69.variant30 11 rs796659217,rs371804472
dbSNP Clinvar 		66109527 406.09 CTG CT... PASS 3/1 25 None None None 0.00180 0.01518 None None None None None None BRMS1|0.094271245|52.3%
View combined sample_69.variant30 11 . 113267064 164.92 CTTT CT... PASS 3/1 19 None None None None None None None None None ANKK1|0.031328783|68.87%
View combined sample_69.variant30 13 . 23251260 172.93 CAAA CA... PASS 3/1 13 None None None None None None None None None None
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