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FREQUENCIES

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

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EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

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+ Genes

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Genes at Omim

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Genes at HGMD

Summary

Number of Variants: 65
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_97.variant42 1 . 13219736 209.55 AT... AT... PASS 4/4 15 None None None None None None None None None None
View combined sample_97.variant42 1 rs141636227
dbSNP Clinvar 		15902224 54.05 TT... T,... PASS 4/4 2 None None None None None None None None None DNAJC16|0.148396459|43.23%,AGMAT|0.096094359|51.91%
View combined sample_97.variant42 2 rs72384788
dbSNP Clinvar 		219327898 328.72 AA... AA... PASS 4/4 8 None None None None None None None None None USP37|0.382075694|21.91%
View combined sample_97.variant42 3 . 8299606 573.56 AA... AA... PASS 4/4 19 None None None None None None None None None None
View combined sample_97.variant42 3 . 52620764 164.71 CAA CA... PASS 4/4 4 None None None None None None None None None PBRM1|0.664761336|9.54%
View combined sample_97.variant42 4 . 7995807 54.39 CT... CT... PASS 4/4 10 None None None None None None None None None ABLIM2|0.046835245|63.64%
View combined sample_97.variant42 5 rs56951795
dbSNP Clinvar 		41005527 393.58 C CT... PASS 4/4 8 None None None 0.37899 None None None None None None MROH2B|0.069922794|57.5%
View combined sample_97.variant42 6 . 100833545 3515.41 AT... A,... PASS 4/4 61 None None None None None None None None None SIM1|0.939430189|2.5%
View combined sample_97.variant42 10 . 5828128 30.06 ATTTT AT... PASS 4/4 5 None None None None None None None None None GDI2|0.399169926|20.83%
View combined sample_97.variant42 8 . 38239264 63.27 GC... GC... PASS 4/4 21 None None None None None None None None None WHSC1L1|0.701625331|8.45%
View combined sample_97.variant42 10 . 87359545 110.55 TAAA T,... PASS 4/4 3 None None None None None None None None None GRID1|0.568665369|13.06%
View combined sample_97.variant42 11 . 28143880 37.06 AT... AT... PASS 4/4 5 None None None None None None None None None METTL15|0.226034516|33.75%
View combined sample_97.variant42 11 . 62439976 263.54 ATTTT A,... PASS 4/4 7 None None None None None None None None None UQCC3|0.008831443|81.82%
View combined sample_97.variant42 12 rs112192237
dbSNP Clinvar 		115121876 294.08 G GG... PASS 4/4 8 None None None 0.53175 0.53170 None None None None None None TBX3|0.917088075|3.05%
View combined sample_97.variant42 17 . 1612683 76.0 CA... CA... PASS 4/4 3 None None None None None None None None None TLCD2|0.022320857|73.01%
View combined sample_97.variant42 17 . 48602098 420.64 TGA TG... PASS 4/4 28 None None None None None None None None None MYCBPAP|0.009182852|81.53%
View combined sample_97.variant42 17 . 74066303 394.69 CA CA... PASS 4/4 8 None None None None None None None None None SRP68|0.201044711|36.63%
View combined sample_97.variant42 19 rs141701236
dbSNP Clinvar 		52227137 522.41 TA... TA... PASS 4/4 20 None None None None None None None None None HAS1|0.18273667|38.7%
View combined sample_97.variant42 20 rs552410230,rs59750367
dbSNP Clinvar 		2618033 435.45 C CA... PASS 4/4 22 None None None 0.68311 None None None None None None TMC2|0.074484913|56.41%
View combined sample_97.variant42 20 . 18474926 100.2 CTTT CT... PASS 4/4 4 None None None None None None None None None RBBP9|0.162729615|41.19%
View combined sample_97.variant42 20 . 45241939 142.73 GA... GA... PASS 4/4 3 None None None None None None None None None SLC13A3|0.116689136|48.01%
View combined sample_97.variant42 20 . 47683568 230.96 CA... CA... PASS 4/4 5 None None None None None None None None None CSE1L|0.815579241|5.45%
View combined sample_97.variant42 X . 45013523 181.24 CC... CC... PASS 4/4 3 None None None None None None None None None CXorf36|0.073887248|56.54%
View combined sample_97.variant42 X rs201428707
dbSNP Clinvar 		128885571 694.63 AA... AA... PASS 4/4 15 None None None None None None None None None XPNPEP2|0.063554785|59%
View combined sample_97.variant42 X . 150151871 440.93 CC... CC... PASS 4/4 19 None None None None None None None None None HMGB3|0.202241588|36.49%
View combined sample_97.variant42 1 rs531089846
dbSNP Clinvar 		53192029 243.94 T TG... PASS 4/4 8 None None None 0.07668 0.07668 None None None None None None None
View combined sample_97.variant42 1 . 55117460 52.73 A AC... PASS 4/4 4 None None None None None None None None None MROH7|0.026933942|70.93%
View combined sample_97.variant42 1 . 200522043 193.63 TT... TT... PASS 4/4 12 None None None None None None None None None KIF14|0.037612045|66.58%
View combined sample_97.variant42 2 . 7076975 652.93 AGTGT AG... PASS 4/4 9 None None None None None None None None None RNF144A|0.230316059|33.35%
View combined sample_97.variant42 2 rs879014372
dbSNP Clinvar 		215013801 235.24 GTA GT... PASS 4/4 10 None None None None None None None None None SPAG16|0.387079371|21.61%
View combined sample_97.variant42 5 . 82877136 216.77 CA... CA... PASS 4/4 4 None None None None None None None None None VCAN|0.557826321|13.44%
View combined sample_97.variant42 5 . 176338113 946.14 GA... GA... PASS 4/4 20 None None None None None None None None None UIMC1|0.252358212|31.34%
View combined sample_97.variant42 8 rs33942423,rs66472341,rs71942199
dbSNP Clinvar 		59514105 197.56 G GA... PASS 4/4 16 None None None None None None None None None NSMAF|0.177836525|39.33%
View combined sample_97.variant42 10 rs201628840
dbSNP Clinvar 		33134696 40.84 TA... TA... PASS 4/4 4 None None None None None None None None None None
View combined sample_97.variant42 10 rs376101415
dbSNP Clinvar 		112696347 731.69 CT C,... PASS 4/4 13 None None None None None None None None None SHOC2|0.804300841|5.7%
View combined sample_97.variant42 12 rs201140404
dbSNP Clinvar 		27647420 44.33 TT... TT... PASS 4/4 2 None None None None None None None None None SMCO2|0.002911773|88.8%
View combined sample_97.variant42 12 rs34107444
dbSNP Clinvar 		26819095 32.0 A AT... PASS 4/4 3 None None None 0.82030 None None None None None None ITPR2|0.196454921|37.11%
View combined sample_97.variant42 13 . 24853011 72.14 TT... TT... PASS 4/4 6 None None None None None None None None None SPATA13|0.057968423|60.4%
View combined sample_97.variant42 15 rs71708360
dbSNP Clinvar 		81665211 328.45 CGT CG... PASS 4/4 12 None None None None None None None None None TMC3|0.01168327|79.46%
View combined sample_97.variant42 17 . 33337764 60.82 CAA CA... PASS 4/4 2 None None None None None None None None None RFFL|0.215263977|34.95%
View combined sample_97.variant42 17 . 42734746 188.59 CTTTT CT... PASS 4/4 9 None None None None None None None None None C17orf104|0.4005481|20.73%
View combined sample_97.variant42 19 . 3748265 147.75 AT... AT... PASS 4/4 3 None None None None None None None None None TJP3|0.010585392|80.45%
View combined sample_97.variant42 19 rs780386046
dbSNP Clinvar 		18897572 148.51 CT... CT... PASS 4/4 4 None None None None None None None None None COMP|0.587659378|12.23%
View combined sample_97.variant42 X rs539917111
dbSNP Clinvar 		49115133 134.92 GA... GA... PASS 4/4 6 None None None None None None None None None FOXP3|0.61779401|11.16%
View combined sample_97.variant42 X . 74494610 328.4 GG... G,... PASS 4/4 2 None None None None None None None None None UPRT|0.241278037|32.34%
View combined sample_97.variant42 1 rs765276047
dbSNP Clinvar 		62350123 1230.72 GT... G,... PASS 4/4 21 None None None None None None None None None INADL|0.105153826|50.2%
View combined sample_97.variant42 1 . 63044388 86.42 CAAA CA... PASS 4/4 4 None None None None None None None None None DOCK7|0.286627165|28.59%
View combined sample_97.variant42 1 rs769477904
dbSNP Clinvar 		95362927 3416.45 TA... T,... PASS 4/4 64 None None None None None None None None None CNN3|0.412846022|19.98%
View combined sample_97.variant42 4 . 1387362 2233.15 TT... TT... PASS 4/4 101 None None None None None None None None None CRIPAK|0.000914016|95.95%
View combined sample_97.variant42 6 . 108197874 54.84 CA... CA... PASS 4/4 21 None None None None None None None None None SEC63|0.687731816|8.89%
View combined sample_97.variant42 7 . 122121216 56.6 CT... CT... PASS 4/4 6 None None None None None None None None None CADPS2|0.856231857|4.53%
View combined sample_97.variant42 7 rs560186199,rs10674238
dbSNP Clinvar 		128317558 477.41 C CA... PASS 4/4 11 None None None 0.95328 0.95330 None None None None None None FAM71F2|0.01865689|74.89%
View combined sample_97.variant42 8 rs764536816
dbSNP Clinvar 		40388026 49.77 AA... AA... PASS 4/4 4 None None None None None None None None None None
View combined sample_97.variant42 8 . 82754618 174.2 G GG... PASS 4/4 3 None None None None None None None None None SNX16|0.204860374|36.14%
View combined sample_97.variant42 9 rs200260394
dbSNP Clinvar 		91653257 395.67 TAAAA TA... PASS 4/4 19 None None None None None None None None None SHC3|0.097881186|51.55%
View combined sample_97.variant42 10 . 120442901 67.98 CA C,... PASS 4/4 4 None None None None None None None None None CACUL1|0.337540568|25%
View combined sample_97.variant42 11 . 3797351 65.41 ATT AT... PASS 4/4 4 None None None None None None None None None NUP98|0.583387171|12.43%
View combined sample_97.variant42 15 rs369110139,rs59322468
dbSNP Clinvar 		57922169 399.43 A AT... PASS 4/4 3 None None None None None None None None None GCOM1|0.172662114|39.98%,MYZAP|0.150722079|42.86%,POLR2M|0.038007903|66.46%
View combined sample_97.variant42 16 . 84027225 1236.48 CT... CT... PASS 4/4 17 None None None None None None None None None NECAB2|0.035747368|67.21%
View combined sample_97.variant42 17 . 66547829 52.73 AA... AA... PASS 4/4 3 None None None None None None None None None FAM20A|0.134865834|45.12%
View combined sample_97.variant42 18 . 56363569 56.54 ATTT AT... PASS 4/4 16 None None None None None None None None None MALT1|0.189803548|37.84%
View combined sample_97.variant42 20 . 42743205 233.04 AG... AG... PASS 4/4 5 None None None None None None None None None JPH2|0.093878237|52.4%
View combined sample_97.variant42 22 rs151165173,rs58327765
dbSNP Clinvar 		30863234 501.49 A AC... PASS 4/4 6 None None None None None None None None None SEC14L3|0.147250694|43.43%
View combined sample_97.variant42 X rs61318398,rs56259244
dbSNP Clinvar 		10174946 276.04 G GT... PASS 4/4 3 None None None 0.54411 0.54410 None None None None None None CLCN4|0.28863626|28.47%
View combined sample_97.variant42 X rs373388566
dbSNP Clinvar 		102320931 316.54 AT... AT... PASS 4/4 6 None None None None None None None None None None
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