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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 22

+ Genes associated with diseases 5

Genes at Omim

FOXG1, MYO5B, NOTCH2, VAC14, VARS2,
FOXG1 Rett syndrome, congenital variant, 613454 (3)
MYO5B Microvillus inclusion disease, 251850 (3)
NOTCH2 Alagille syndrome 2, 610205 (3)
Hajdu-Cheney syndrome, 102500 (3)
VAC14 Striatonigral degeneration, childhood-onset, 617054 (3)
VARS2 Combined oxidative phosphorylation deficiency 20, 615917 (3)

Genes at Clinical Genomics Database

FOXG1, MYO5B, NOTCH2, VARS2,
FOXG1 Rett syndrome, congenital variant
MYO5B Diarrhea 2, with microvillus atrophy
NOTCH2 Alagille syndrome 2
VARS2 Combined oxidative phosphorylation deficiency 20

Genes at HGMD

Summary

Number of Variants: 819
Number of Genes: 22

Export to: CSV

SLC9B1P1
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 136 Y rs369438688
dbSNP Clinvar 		13496463 43.73 AAC A LowQual 0/1 18 FRAME_SHIFT HIGH None None None None None None SLC9B1P1|0.002112226|90.7%
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 136 Y rs764585490
dbSNP Clinvar 		13483322 34.77 T C LowQual 0/1 9 None None None None None None None None None None
View 136 Y rs924292987
dbSNP Clinvar 		9967485 31.77 G T LowQual 0/1 10 None None None None None None None None None None
View 136 Y . 10028938 31.77 G A LowQual 0/1 10 None None None None None None None None None None
View 136 X rs757293823,rs756752481
dbSNP Clinvar 		122772578 40.73 TAC T LowQual 0/1 16 None None None None None None None None None THOC2|0.835142025|4.98%
View 136 X rs72026364
dbSNP Clinvar 		50165595 39.73 AAC A LowQual 0/1 14 None None None None None None None None None None
View 136 X rs781895533,rs368248747
dbSNP Clinvar 		48378985 42.73 AAC A LowQual 0/1 8 None None None None None None None None None PORCN|0.57884181|12.63%
View 136 X rs11363600
dbSNP Clinvar 		70080911 46.73 CT C LowQual 0/1 26 None None None 0.40689 0.40690 None None None None None None TEX11|0.015005078|77.12%
View 136 X . 61711321 31.77 C T LowQual 0/1 10 None None None None None None None None None None
View 136 X rs544098749,rs5902274
dbSNP Clinvar 		41196895 41.9 CT C LowQual 0/1 7 None None None 0.67788 0.67790 None None None None None None DDX3X|0.576936276|12.73%
View 136 X rs772397322
dbSNP Clinvar 		20194479 49.73 G GA LowQual 0/1 18 None None None None None None None None None RPS6KA3|0.840244926|4.88%

VCX3B
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 136 X rs200112127
dbSNP Clinvar 		8434256 34.77 A G LowQual 0/1 13 SYNONYMOUS_CODING LOW SILENT None None None None None None VCX3B|0.000759636|96.94%
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 136 X . 585121 32.73 C CTT LowQual 0/1 18 None None None None None None None None None SHOX|0.016751874|76.05%
View 136 X rs200557971
dbSNP Clinvar 		151290002 47.73 G GT LowQual 0/1 16 None None None None None None None None None None
View 136 X rs3813940
dbSNP Clinvar 		585090 33.77 G T LowQual 0/1 16 None None None 0.21985 0.21980 None None None None None None SHOX|0.016751874|76.05%
View 136 9 rs1024105870
dbSNP Clinvar 		135263729 35.73 C CT LowQual 0/1 10 None None None None None None None None None TTF1|0.003088538|88.52%
View 136 9 rs749084307
dbSNP Clinvar 		135273372 33.73 C CA LowQual 0/1 13 None None None None None None None None None TTF1|0.003088538|88.52%
View 136 9 rs11521991
dbSNP Clinvar 		136434265 37.77 G A LowQual 0/1 11 None None None None None None None None None ADAMTSL2|0.0506365|62.46%
View 136 9 rs200564439
dbSNP Clinvar 		41943267 39.77 A G LowQual 0/1 11 None None None None None None None None None None
View 136 9 rs2846448
dbSNP Clinvar 		113509778 41.77 C T LowQual 0/1 10 None None None 0.73023 0.73020 None None None None None None MUSK|0.76664827|6.69%
View 136 9 rs2281732
dbSNP Clinvar 		100845007 41.77 A G LowQual 0/1 14 None None None 0.37440 0.37440 None None None None None None NANS|0.22754575|33.6%,TRIM14|0.020241025|74.05%
View 136 9 rs112724520
dbSNP Clinvar 		90254175 38.73 CT C LowQual 0/1 14 None None None None None None None None None DAPK1|0.472235209|17.1%
View 136 9 rs11143198
dbSNP Clinvar 		74862221 48.77 C T LowQual 0/1 11 None None None 0.13898 0.13900 None None None None None None GDA|0.269959107|29.88%
View 136 9 rs75919882
dbSNP Clinvar 		74364881 34.73 A T LowQual 0/1 14 None None None 0.03954 0.03954 None None None None None None TMEM2|0.195352214|37.22%
View 136 9 . 67328685 49.77 A G LowQual 0/1 19 None None None None None None None None None None
View 136 9 . 67047375 41.77 G A LowQual 0/1 24 None None None None None None None None None None
View 136 9 rs74549761
dbSNP Clinvar 		45377498 48.77 A G LowQual 0/1 10 None None None None None None None None None None
View 136 9 rs62537368
dbSNP Clinvar 		44069702 34.77 G A LowQual 0/1 12 None None None 0.67432 0.67430 None None None None None None None
View 136 9 rs202066161
dbSNP Clinvar 		41943200 47.77 C G LowQual 0/1 24 None None None None None None None None None None
View 136 9 rs928296579
dbSNP Clinvar 		33795762 48.77 C T LowQual 0/1 10 None None None None None None None None None PRSS3|0.009331176|81.43%
View 136 9 rs35902524
dbSNP Clinvar 		126136688 41.73 G GA LowQual 0/1 14 None None None 0.34265 0.34270 None None None None None None CRB2|0.035723803|67.22%
View 136 9 rs35301976
dbSNP Clinvar 		8331926 39.73 TA... T LowQual 0/1 5 None None None 0.68610 0.68610 None None None None None None PTPRD|0.999948474|0.14%
View 136 9 rs2437159
dbSNP Clinvar 		40633317 43.77 A C LowQual 0/1 24 None None None None None None None None None None
View 136 9 rs62567434
dbSNP Clinvar 		67331335 36.77 G A LowQual 0/1 18 None None None None None None None None None None
View 136 9 rs9697095
dbSNP Clinvar 		67333979 49.77 G A LowQual 0/1 17 None None None None None None None None None None
View 136 9 rs9695486
dbSNP Clinvar 		67333985 46.77 A C LowQual 0/1 19 None None None None None None None None None None
View 136 9 rs878981031
dbSNP Clinvar 		68436062 38.77 C T LowQual 0/1 22 None None None None None None None None None None
View 136 9 rs201543197
dbSNP Clinvar 		68437522 31.77 T A LowQual 0/1 10 None None None None None None None None None None
View 136 9 rs200156269
dbSNP Clinvar 		68437531 31.77 T A LowQual 0/1 10 None None None None None None None None None None
View 136 9 rs201750108
dbSNP Clinvar 		68437548 40.77 T C LowQual 0/1 10 None None None None None None None None None None
View 136 9 rs62543817
dbSNP Clinvar 		68437629 41.77 A G LowQual 0/1 14 None None None 0.00120 0.00120 None None None None None None None
View 136 9 rs141830694
dbSNP Clinvar 		68438421 44.73 AT A LowQual 0/1 16 None None None None None None None None None None
View 136 9 rs778852305
dbSNP Clinvar 		68438794 39.77 G A LowQual 0/1 20 None None None None None None None None None None
View 136 9 rs11145733
dbSNP Clinvar 		80793055 34.77 C A LowQual 0/1 14 None None None 0.07468 0.07468 None None None None None None None
View 136 9 . 134008691 36.73 G GT LowQual 0/1 17 None None None None None None None None None NUP214|0.088064725|53.65%
View 136 9 . 136895426 45.74 CTTT C LowQual 0/1 7 SPLICE_SITE_REGION LOW None None None None None None None
View 136 9 rs11521695
dbSNP Clinvar 		141034430 47.77 A G LowQual 0/1 20 None None None 0.22784 0.22780 None None None None None None None
View 136 9 rs528225656
dbSNP Clinvar 		140129228 43.77 T C LowQual 0/1 10 None None None 0.00040 0.00040 None None None None None None SLC34A3|0.007501446|83.07%
View 136 9 rs372510099
dbSNP Clinvar 		130423271 32.73 CA C LowQual 0/1 18 None None None None None None None None None STXBP1|0.391277269|21.32%
View 136 9 rs3764912
dbSNP Clinvar 		123751800 37.77 A G LowQual 0/1 16 None None None 0.50899 0.50900 0.41173 None None None None None None C5|0.070590656|57.35%
View 136 9 rs79172147
dbSNP Clinvar 		104130292 48.77 C A LowQual 0/1 18 None None None 0.06070 0.06070 None None None None None None BAAT|0.006993319|83.49%
View 136 9 rs3802379
dbSNP Clinvar 		94538304 46.77 C T LowQual 0/1 12 None None None 0.05331 0.05331 None None None None None None ROR2|0.086953788|53.78%
View 136 9 rs199586721
dbSNP Clinvar 		93650758 49.73 TA T LowQual 0/1 19 None None None 0.18755 None None None None None None SYK|0.389151875|21.47%
View 136 9 rs1757683
dbSNP Clinvar 		92988034 37.77 C T LowQual 0/1 11 None None None 0.18730 0.18730 None None None None None None None
View 136 9 rs4745577
dbSNP Clinvar 		71688101 30.77 A G LowQual 0/1 10 None None None 0.56470 0.56470 None None None None None None FXN|0.037032062|66.77%
View 136 9 rs370692831
dbSNP Clinvar 		70919276 36.77 C G LowQual 0/1 10 None None None None None None None None None FOXD4L3|0.008743252|81.91%
View 136 9 . 70919269 36.77 G A LowQual 0/1 10 None None None None None None None None None FOXD4L3|0.008743252|81.91%
View 136 9 rs201933231
dbSNP Clinvar 		69448529 38.77 T G LowQual 0/1 14 None None None None None None None None None None
View 136 9 . 69082238 48.73 TTG T LowQual 0/1 11 None None None None None None None None None None
View 136 9 rs200978296
dbSNP Clinvar 		69082229 42.73 AAAG A LowQual 0/1 14 None None None 0.52336 0.52340 None None None None None None None
View 136 9 rs77146173
dbSNP Clinvar 		69082156 48.77 A T LowQual 0/1 31 None None None None None None None None None None
View 136 9 rs142288658
dbSNP Clinvar 		20862797 43.73 CTGT C LowQual 0/1 18 None None None None None None None None None FOCAD|0.402062048|20.62%
View 136 9 rs10964528
dbSNP Clinvar 		2039983 43.77 A C LowQual 0/1 21 None None None 0.41014 0.41010 None None None None None None SMARCA2|0.973609555|1.61%
View 136 9 rs10964527
dbSNP Clinvar 		2039973 49.77 C T LowQual 0/1 19 None None None 0.17372 0.17370 None None None None None None SMARCA2|0.973609555|1.61%

GOLGA2
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 136 9 rs112603354,rs763875065
dbSNP Clinvar 		131020795 46.73 GCCT G LowQual 0/1 17 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.26278 0.26280 None None None None None None GOLGA2|0.022268604|73.06%
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 136 9 rs550045
dbSNP Clinvar 		130477160 45.77 G A LowQual 0/1 10 None None None 0.52875 0.52880 None None None None None None PTRH1|0.053972613|61.48%,C9orf117|0.003242017|88.26%

HSF1
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 136 8 rs368025244
dbSNP Clinvar 		145535883 38.77 G C LowQual 0/1 18 SYNONYMOUS_CODING LOW SILENT None None None None None None HSF1|0.11322973|48.62%
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 136 8 rs35643156
dbSNP Clinvar 		93075329 44.73 TA T LowQual 0/1 15 None None None None None None None None None RUNX1T1|0.998431408|0.5%
View 136 8 rs777017998
dbSNP Clinvar 		91064320 39.73 TA T LowQual 0/1 10 None None None None None None None None None DECR1|0.937933944|2.55%
View 136 8 rs3779796
dbSNP Clinvar 		87671199 48.77 A G LowQual 0/1 18 None None None 0.25200 0.25200 None None None None None None CNGB3|0.068013081|57.91%
View 136 8 rs12542191
dbSNP Clinvar 		51363430 42.73 A T LowQual 0/1 11 None None None 0.40375 0.40380 None None None None None None SNTG1|0.145139609|43.69%
View 136 8 rs17652297
dbSNP Clinvar 		31004465 47.77 T A LowQual 0/1 10 None None None 0.19309 0.19310 None None None None None None WRN|0.464572079|17.41%
View 136 8 . 20161281 30.73 CT C LowQual 0/1 10 None None None None None None None None None LZTS1|0.258249823|30.9%
View 136 8 rs34858861,rs572513773
dbSNP Clinvar 		3216948 44.73 TA T LowQual 0/1 14 None None None 0.46466 0.46470 None None None None None None CSMD1|0.119480951|47.53%
View 136 8 rs1879539
dbSNP Clinvar 		12035946 47.77 C G LowQual 0/1 18 None None None None None None None None None None
View 136 8 rs113684211
dbSNP Clinvar 		7752466 42.73 CT C LowQual 0/1 18 None None None 0.12480 0.12480 None None None None None None DEFB4A|0.000610672|97.87%
View 136 8 rs139865219
dbSNP Clinvar 		120581739 36.73 CT C LowQual 0/1 11 None None None 0.08107 0.08107 None None None None None None ENPP2|0.381803066|21.93%
View 136 8 . 12040368 31.73 AC A LowQual 0/1 21 None None None None None None None None None FAM86B1|0.001793469|91.55%
View 136 8 rs377651585
dbSNP Clinvar 		12281619 31.77 C A LowQual 0/1 10 None None None None None None None None None None
View 136 8 rs369516038
dbSNP Clinvar 		12281630 31.77 T C LowQual 0/1 10 None None None None None None None None None None
View 136 8 rs11782187
dbSNP Clinvar 		15095296 49.77 A G LowQual 0/1 11 None None None 0.41434 0.41430 None None None None None None SGCZ|0.483432839|16.57%
View 136 8 rs767156071
dbSNP Clinvar 		37964012 46.73 TTTC T LowQual 0/1 13 None None None None None None None None None ASH2L|0.428566452|19.21%
View 136 8 . 71581868 31.73 TG... T LowQual 0/1 20 None None None None None None None None None XKR9|0.041312376|65.36%
View 136 8 . 111568517 36.73 A AG... LowQual 0/1 5 None None None None None None None None None None
View 136 8 . 116679931 44.73 C CA LowQual 0/1 10 None None None None None None None None None TRPS1|0.98551969|1.26%
View 136 8 rs759303878
dbSNP Clinvar 		116681041 48.73 TA T LowQual 0/1 17 None None None None None None None None None TRPS1|0.98551969|1.26%
View 136 8 rs2241981
dbSNP Clinvar 		117864608 42.77 A C LowQual 0/1 13 None None None 0.14816 0.14820 None None None None None None RAD21|0.857923365|4.51%
View 136 8 . 12040158 31.77 A G LowQual 0/1 10 None None None None None None None None None FAM86B1|0.001793469|91.55%
View 136 8 rs6982255
dbSNP Clinvar 		17579135 34.77 C T LowQual 0/1 12 None None None 0.35623 0.35620 None None None None None None MTUS1|0.029314475|69.7%
View 136 8 rs796616994
dbSNP Clinvar 		10622563 39.73 GAC G LowQual 0/1 24 None None None None None None None None None SOX7|0.347029658|24.36%,PINX1|0.194708071|37.3%
View 136 8 rs34207784,rs879176528,rs546161347
dbSNP Clinvar 		133961299 47.73 GA G LowQual 0/1 11 None None None 0.24960 None None None None None None TG|0.245746493|31.95%
View 136 8 rs3067432,rs57347546
dbSNP Clinvar 		131812577 40.73 C CA LowQual 0/1 18 None None None None None None None None None ADCY8|0.569570608|13.01%
View 136 8 rs4236749
dbSNP Clinvar 		131065153 40.77 C T LowQual 0/1 15 None None None 0.21406 0.21410 None None None None None None ASAP1|0.438507149|18.75%
View 136 8 rs2290523
dbSNP Clinvar 		121354851 46.77 G A LowQual 0/1 11 None None None 0.53075 0.53080 None None None None None None COL14A1|0.765229358|6.75%
View 136 8 rs1563392
dbSNP Clinvar 		121353692 49.77 A T LowQual 0/1 11 None None None 0.48303 0.48300 None None None None None None COL14A1|0.765229358|6.75%
View 136 8 rs3087554
dbSNP Clinvar 		27455442 46.77 T C LowQual 0/1 16 None None None 0.24201 0.24200 None None None None None None CLU|0.219123407|34.47%
View 136 8 rs368376563
dbSNP Clinvar 		26636460 32.73 T TA LowQual 0/1 12 None None None None None None None None None ADRA1A|0.171893562|40.07%
View 136 8 . 18541714 43.0 CCA C LowQual 0/1 5 None None None None None None None None None PSD3|0.135347498|45.05%
View 136 8 . 17946059 37.76 CT C LowQual 0/1 7 None None None None None None None None None None

TRBV3-1
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 136 7 rs370721246
dbSNP Clinvar 		142008653 39.77 T A LowQual 0/1 16 STOP_GAINED HIGH NONSENSE None None None None None None None