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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

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+ Genes

Genes:

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Genes at Omim

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Genes at HGMD

Summary

Number of Variants: 54
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 rs35221527
dbSNP Clinvar 		113247713 870.96 G A PASS 0/1 107 MOTIF[MA0079.2:SP1] LOW None 0.08966 0.08966 None None None None None None RHOC|0.295458204|28.01%
View combined sample_96.variant41 1 . 150254920 268.66 AG AGG,A PASS 0/2 31 MOTIF[MA0079.2:SP1] LOW None None None None None None None None
View combined sample_96.variant41 1 rs74150561
dbSNP Clinvar 		226112025 1495.73 G A PASS 0/1 145 MOTIF[MA0079.2:SP1] LOW None 0.03874 0.03874 None None None None None None None
View combined sample_96.variant41 2 rs7593743
dbSNP Clinvar 		25194586 1668.68 G A PASS 0/1 98 MOTIF[MA0079.2:SP1] LOW None 0.13718 0.13720 None None None None None None DNAJC27|0.222298535|34.15%
View combined sample_96.variant41 2 rs878985411
dbSNP Clinvar 		153574145 195.82 TG TG... PASS 0/1 46 MOTIF[MA0079.2:SP1] LOW None None None None None None None PRPF40A|0.476450901|16.93%
View combined sample_96.variant41 2 rs1049347946
dbSNP Clinvar 		153574157 188.88 A G PASS 0/1 59 MOTIF[MA0079.2:SP1] MODIFIER None None None None None None None PRPF40A|0.476450901|16.93%
View combined sample_96.variant41 2 rs191757043
dbSNP Clinvar 		160143360 553.77 C T PASS 0/1 28 MOTIF[MA0079.2:SP1] LOW None 0.00359 0.00359 None None None None None None None
View combined sample_96.variant41 3 rs1832667
dbSNP Clinvar 		194992039 428.66 G C PASS 1/1 24 MOTIF[MA0079.2:SP1] LOW None 0.82528 0.82530 None None None None None None None
View combined sample_96.variant41 5 rs152876
dbSNP Clinvar 		110848319 95.45 G C PASS 0/1 27 MOTIF[MA0079.2:SP1] LOW None 0.00080 0.00080 None None None None None None None
View combined sample_96.variant41 6 rs3747526
dbSNP Clinvar 		25619581 223.49 C A,G PASS 1/2 34 MOTIF[MA0079.2:SP1] LOW None 0.00859 0.24520 None None None None None None LRRC16A|0.106228514|49.94%
View combined sample_96.variant41 6 rs2297333
dbSNP Clinvar 		44355423 3204.68 C T PASS 1/1 130 MOTIF[MA0079.2:SP1] LOW None 0.53534 0.53530 None None None None None None CDC5L|0.899227111|3.44%
View combined sample_96.variant41 7 rs3215325,rs397840079
dbSNP Clinvar 		99156252 1642.78 AG A PASS 0/1 101 MOTIF[MA0079.2:SP1] LOW None None None None None None None ZNF655|0.070094508|57.47%
View combined sample_96.variant41 7 rs80040741
dbSNP Clinvar 		100608929 61.61 G T PASS 0/1 61 MOTIF[MA0079.2:SP1] MODIFIER None 0.00040 0.00040 None None None None None None MUC3A|0.001683398|91.94%
View combined sample_96.variant41 9 rs796101007
dbSNP Clinvar 		66457228 827.95 A C PASS 0/1 248 MOTIF[MA0079.2:SP1] LOW None None None None None None None None
View combined sample_96.variant41 10 rs72449284
dbSNP Clinvar 		1095412 2470.34 TC CC... PASS 0/1 108 MOTIF[MA0079.2:SP1] LOW None 0.88918 0.88920 None None None None None None None
View combined sample_96.variant41 11 rs11227869
dbSNP Clinvar 		67399914 1107.91 G T PASS 0/1 100 MOTIF[MA0079.2:SP1] LOW None 0.18211 0.18210 0.17519 None None None None None None TBX10|0.045979787|63.92%
View combined sample_96.variant41 14 . 69446067 62.07 C G DRAGENHardSNP 0/1 117 MOTIF[MA0079.2:SP1] MODIFIER None None None None None None None ACTN1|0.514986607|15.15%
View combined sample_96.variant41 16 rs2302176
dbSNP Clinvar 		2014954 665.87 C T PASS 0/1 18 MOTIF[MA0079.2:SP1] LOW None 0.43830 0.43830 None None None None None None None
View combined sample_96.variant41 16 rs36021060
dbSNP Clinvar 		23521874 145.29 G GC PASS 0/1 17 MOTIF[MA0079.2:SP1] LOW None 0.67532 0.67530 None None None None None None GGA2|0.075311277|56.21%
View combined sample_96.variant41 17 rs115261570
dbSNP Clinvar 		17184229 143.97 G A PASS 0/1 17 MOTIF[MA0079.2:SP1] LOW None 0.03834 0.03834 None None None None None None COPS3|0.78746679|6.18%
View combined sample_96.variant41 19 rs746401
dbSNP Clinvar 		46498827 545.28 G A PASS 0/1 25 MOTIF[MA0079.2:SP1] LOW None 0.30571 0.30570 None None None None None None CCDC61|0.034771259|67.54%
View combined sample_96.variant41 19 rs112876388,rs577601973
dbSNP Clinvar 		58144527 936.9 G GC PASS 0/1 83 MOTIF[MA0079.2:SP1] LOW None 0.08746 None None None None None None ZNF211|0.001054755|95.15%
View combined sample_96.variant41 22 rs2070766
dbSNP Clinvar 		24237221 1955.05 C G PASS 0/1 186 MOTIF[MA0079.2:SP1] LOW None 0.17352 0.17350 0.13856 None None None None None None MIF|0.352183586|23.93%
View combined sample_96.variant41 1 rs6665102
dbSNP Clinvar 		201977600 110.05 C A PASS 0/1 16 MOTIF[MA0079.2:SP1] MODIFIER None 0.72624 0.72620 None None None None None None ELF3|0.687822178|8.88%
View combined sample_96.variant41 1 rs745531177
dbSNP Clinvar 		236305689 308.56 CG... C,... PASS 0/1 9 MOTIF[MA0079.2:SP1] LOW None None None None None None None None
View combined sample_96.variant41 5 . 150632405 107.08 T C PASS 0/1 9 MOTIF[MA0079.2:SP1] MODIFIER None None None None None None None GM2A|0.00525441|85.49%
View combined sample_96.variant41 7 rs2420827
dbSNP Clinvar 		66147101 4536.38 G A PASS 0/1 153 MOTIF[MA0079.2:SP1] LOW None 0.33147 0.33150 None None None None None None KCTD7|0.214101234|35.12%
View combined sample_96.variant41 9 rs10814131
dbSNP Clinvar 		34666176 1241.56 G A PASS 1/1 49 MOTIF[MA0079.2:SP1] LOW None 0.91753 0.91750 None None None None None None None
View combined sample_96.variant41 10 rs2797078
dbSNP Clinvar 		27529549 2776.11 C A PASS 0/1 292 MOTIF[MA0079.2:SP1] LOW None 0.67712 0.67710 0.27464 None None None None None None ACBD5|0.116795914|47.98%
View combined sample_96.variant41 11 rs58692051
dbSNP Clinvar 		207410 797.86 C T PASS 0/1 41 MOTIF[MA0079.2:SP1] LOW None 0.24381 0.24380 None None None None None None BET1L|0.043373074|64.7%
View combined sample_96.variant41 11 rs2682090
dbSNP Clinvar 		6411600 580.42 C G PASS 1/1 38 MOTIF[MA0079.2:SP1] LOW None 0.20148 0.20150 None None None None None None None
View combined sample_96.variant41 11 rs2306361
dbSNP Clinvar 		65374495 295.68 A C PASS 1/1 21 MOTIF[MA0079.2:SP1] MODIFIER None 0.54133 0.54130 None None None None None None MAP3K11|0.177911532|39.32%
View combined sample_96.variant41 11 rs3927803
dbSNP Clinvar 		72939237 282.29 T G PASS 0/1 4 MOTIF[MA0079.2:SP1] MODIFIER None None None None None None None P2RY2|0.154569341|42.35%
View combined sample_96.variant41 16 rs2445079
dbSNP Clinvar 		84538417 745.89 C G PASS 1/1 24 MOTIF[MA0079.2:SP1] MODIFIER None 0.98123 0.98120 None None None None None None TLDC1|0.002246003|90.29%
View combined sample_96.variant41 17 rs41555218
dbSNP Clinvar 		7387929 290.52 C T PASS 0/1 57 MOTIF[MA0079.2:SP1] LOW None 0.02955 0.02955 None None None None None None POLR2A|0.821167438|5.28%
View combined sample_96.variant41 19 rs10413663
dbSNP Clinvar 		20844477 70.73 C T PASS 0/1 27 MOTIF[MA0079.2:SP1] LOW None 0.06949 0.06949 None None None None None None None
View combined sample_96.variant41 22 rs35920692
dbSNP Clinvar 		39916626 575.27 T TC PASS 0/1 36 MOTIF[MA0079.2:SP1] LOW None 0.27736 0.27740 None None None None None None ATF4|0.396217257|21.01%
View combined sample_96.variant41 2 rs773809225
dbSNP Clinvar 		61765175 853.98 GGCC GC,G PASS 0/1 26 MOTIF[MA0079.2:SP1] LOW None None None None None None None XPO1|0.727490728|7.74%
View combined sample_96.variant41 3 rs587665591,rs554856662
dbSNP Clinvar 		50359246 74.61 AGGG AG... PASS 2/1 38 MOTIF[MA0079.2:SP1] LOW None 0.54892 0.54890 None None None None None None HYAL2|0.076953351|55.93%,TUSC2|0.476435823|16.94%
View combined sample_96.variant41 3 rs868967239
dbSNP Clinvar 		50359253 1218.96 G A PASS 0/1 43 MOTIF[MA0079.2:SP1] LOW None None None None None None None HYAL2|0.076953351|55.93%,TUSC2|0.476435823|16.94%
View combined sample_96.variant41 4 rs1871048
dbSNP Clinvar 		71768079 2543.15 C G PASS 1/1 147 MOTIF[MA0079.2:SP1] LOW None 0.92871 0.92870 None None None None None None MOB1B|0.550310988|13.69%
View combined sample_96.variant41 5 rs58729522
dbSNP Clinvar 		148737409 439.73 G C PASS 0/1 10 MOTIF[MA0079.2:SP1] LOW None 0.31050 0.31050 None None None None None None None
View combined sample_96.variant41 5 rs141646161,rs57734703
dbSNP Clinvar 		148737410 430.73 GGC G PASS 0/1 12 MOTIF[MA0079.2:SP1] LOW None 0.31949 0.31950 None None None None None None None
View combined sample_96.variant41 6 rs7756216
dbSNP Clinvar 		27440932 1906.07 C T PASS 1/1 144 MOTIF[MA0079.2:SP1] LOW None 0.63718 0.63720 None None None None None None None
View combined sample_96.variant41 6 rs771342556
dbSNP Clinvar 		32095996 362.61 A C DRAGENHardSNP 0/1 123 MOTIF[MA0079.2:SP1] MODIFIER None None None None None None None ATF6B|0.118552355|47.66%
View combined sample_96.variant41 6 rs374669878
dbSNP Clinvar 		125623268 862.52 C CT... PASS 0/1 21 MOTIF[MA0079.2:SP1] LOW None 0.33866 0.33870 None None None None None None HDDC2|0.099364947|51.3%
View combined sample_96.variant41 8 rs199505834,rs59470598
dbSNP Clinvar 		143858783 105.89 C CC... PASS 1/1 8 MOTIF[MA0079.2:SP1] LOW None 0.88478 0.88480 None None None None None None LYNX1|0.025477646|71.58%
View combined sample_96.variant41 9 . 116356173 66.27 A C DRAGENHardSNP 0/1 109 MOTIF[MA0079.2:SP1] MODIFIER None None None None None None None RGS3|0.174619779|39.71%
View combined sample_96.variant41 12 rs2290238
dbSNP Clinvar 		7276573 454.23 C T PASS 0/1 52 MOTIF[MA0079.2:SP1] LOW None 0.09365 0.09365 None None None None None None RBP5|0.011081916|80%
View combined sample_96.variant41 18 rs1632169
dbSNP Clinvar 		33709762 1909.83 G C PASS 0/1 65 MOTIF[MA0079.2:SP1] LOW None 0.24541 0.24540 None None None None None None ELP2|0.183972604|38.49%
View combined sample_96.variant41 19 rs139723444
dbSNP Clinvar 		33166251 479.46 G GC PASS 0/1 50 MOTIF[MA0079.2:SP1] LOW None None None None None None None ANKRD27|0.115031878|48.32%
View combined sample_96.variant41 20 rs150938918,rs3032680
dbSNP Clinvar 		62369426 186.61 C CG... PASS 1/1 2 MOTIF[MA0079.2:SP1] LOW None 0.69808 0.69810 None None None None None None LIME1|0.001468747|92.93%
View combined sample_96.variant41 21 rs59439960,rs760425920,rs796684390
dbSNP Clinvar 		48054975 128.48 AG A PASS 0/1 8 MOTIF[MA0079.2:SP1] LOW None 0.24002 0.24000 None None None None None None None
View combined sample_96.variant41 X . 102941543 59.19 A C PASS 0/1 24 MOTIF[MA0079.2:SP1] MODIFIER None None None None None None None MORF4L2|0.128661435|46.08%
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