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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 at Omim

SPAG1,
SPAG1 Ciliary dyskinesia, primary, 28, 615505 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 973
Number of Genes: 31

Export to: CSV

AC017104.2

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 wes_0001 hg19 bwa gatk freebayes combined 2 . 232317259 40.77 C T LowQual 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined 2 . 232317267 37.77 G A LowQual 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.99 None None None None None None None

AMDHD1

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 wes_0001 hg19 bwa gatk freebayes combined 12 rs1436121
dbSNP Clinvar
96337225 34.77 C T LowQual 0/1 0 SYNONYMOUS_CODING LOW None 0.25479 0.25480 0.14615 None None None None None None AMDHD1|0.4419198|18.57%

ANKRD20A2

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 wes_0001 hg19 bwa gatk freebayes combined 9 rs2207456
dbSNP Clinvar
42410290 36.77 T C LowQual 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.58 0.00 None None None None None None ANKRD20A3|0.001944577|91.12%,ANKRD20A2|0.001339079|93.66%

APOBR

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 wes_0001 hg19 bwa gatk freebayes combined 16 rs149271
dbSNP Clinvar
28506872 47.77 A G LowQual 0/1 0 SYNONYMOUS_CODING LOW None 0.29473 0.29470 0.38627 None None None None None None CLN3|0.080923796|55%,APOBR|0.000791084|96.71%

ATG16L2

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 wes_0001 hg19 bwa gatk freebayes combined 11 rs370813789
dbSNP Clinvar
72525477 38.77 G T LowQual 0/1 0 START_GAINED LOW None 0.00260 0.00260 0.00511 None None None None None None ATG16L2|0.066744827|58.21%

ATP11A

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 wes_0001 hg19 bwa gatk freebayes combined 13 rs556529412
dbSNP Clinvar
113344750 30.77 G C LowQual 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.02 0.04 None None None None None None ATP11A|0.13314168|45.42%

BAIAP2L2

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 wes_0001 hg19 bwa gatk freebayes combined 22 rs17856487
dbSNP Clinvar
38485540 44.77 A G LowQual 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.39078 0.39080 0.50 0.00 None None None None None None BAIAP2L2|0.045525826|64.05%

C1orf65

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 wes_0001 hg19 bwa gatk freebayes combined 1 rs10907376
dbSNP Clinvar
223567803 31.77 G A LowQual 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.17592 0.17590 0.23830 0.63 0.06 None None None None None None CCDC185|0.002678789|89.3%

CCDC88B

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 wes_0001 hg19 bwa gatk freebayes combined 11 rs145110055
dbSNP Clinvar
64116842 39.77 G T LowQual 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00499 0.00499 0.00524 0.03 0.06 None None None None None None CCDC88B|0.013893169|77.95%

FAM47E-STBD1

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 wes_0001 hg19 bwa gatk freebayes combined 4 rs1837871
dbSNP Clinvar
77211104 40.77 A G LowQual 0/1 0 None None None 0.13558 0.13560 0.00 0.93 None None None None None None FAM47E-STBD1|0.00841981|82.23%

FLYWCH1

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 wes_0001 hg19 bwa gatk freebayes combined 16 rs9928269
dbSNP Clinvar
2998911 32.77 C T LowQual 0/1 0 None None None 0.35264 0.35260 0.11 0.51 None None None None None None FLYWCH1|0.005253658|85.5%

GDF7

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 wes_0001 hg19 bwa gatk freebayes combined 2 rs13013489
dbSNP Clinvar
20870579 35.77 G A LowQual 0/1 0 SYNONYMOUS_CODING LOW None 0.80771 0.80770 0.14529 None None None None None None GDF7|0.067640553|57.97%

HRNR

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 wes_0001 hg19 bwa gatk freebayes combined 1 rs4845424
dbSNP Clinvar
152186222 43.77 T C LowQual 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.35963 0.35960 0.13 0.00 None None None None None None HRNR|0.000187528|99.8%

INTS1

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 wes_0001 hg19 bwa gatk freebayes combined 7 rs1369011
dbSNP Clinvar
1543981 37.77 C A LowQual 0/1 0 SYNONYMOUS_CODING LOW None 0.57788 0.57790 0.40305 None None None None None None INTS1|0.091590581|52.91%

KIAA1211

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 wes_0001 hg19 bwa gatk freebayes combined 4 rs11723379
dbSNP Clinvar
57180616 45.77 G C LowQual 0/1 0 SYNONYMOUS_CODING LOW None 0.30192 0.30190 0.33313 None None None None None None KIAA1211|0.006705951|83.84%

LRRC26

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 wes_0001 hg19 bwa gatk freebayes combined 9 rs12000091
dbSNP Clinvar
140064219 39.77 T C LowQual 0/1 0 SYNONYMOUS_CODING LOW None 0.23223 0.23220 None None None None None None LRRC26|0.003610166|87.59%

NLRP6

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 wes_0001 hg19 bwa gatk freebayes combined 11 rs6421985
dbSNP Clinvar
280221 30.77 A C LowQual 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.71985 0.71980 0.09595 1.00 0.00 None None None None None None NLRP6|0.003459946|87.83%

NPAS3

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 wes_0001 hg19 bwa gatk freebayes combined 14 rs10142034
dbSNP Clinvar
34269775 32.77 C G LowQual 0/1 0 SYNONYMOUS_CODING LOW None 0.08267 0.08267 None None None None None None NPAS3|0.999985495|0.09%

NPIPA3

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 wes_0001 hg19 bwa gatk freebayes combined 16 rs200000305
dbSNP Clinvar
14820034 40.77 C T LowQual 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.17 0.77 None None None None None None NPIPA3|0.000787204|96.74%

POTEM

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 wes_0001 hg19 bwa gatk freebayes combined 14 rs138327719
dbSNP Clinvar
19990641 39.77 C T LowQual 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None POTEM|0.001625013|92.23%

SPAG1

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 wes_0001 hg19 bwa gatk freebayes combined 8 rs2514681
dbSNP Clinvar
101225559 45.77 C G LowQual 0/1 0 SYNONYMOUS_CODING LOW None 0.34205 0.34210 None None None None None None SPAG1|0.055472579|61.06%

SPATA31A4

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 wes_0001 hg19 bwa gatk freebayes combined 9 rs199889036
dbSNP Clinvar
41323425 39.77 G A LowQual 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.00 None None None None None None None

SYNM

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 wes_0001 hg19 bwa gatk freebayes combined 15 rs1044356
dbSNP Clinvar
99645813 31.77 G A LowQual 0/1 0 SYNONYMOUS_CODING LOW None 0.43251 0.43250 None None None None None None SYNM|0.017742741|75.44%

TMED8

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 wes_0001 hg19 bwa gatk freebayes combined 14 rs3742737
dbSNP Clinvar
77843384 43.77 G T LowQual 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.24860 0.24860 1.00 0.00 None None None None None None TMED8|0.183347782|38.62%,SAMD15|0.00831901|82.32%

TMEM132A

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 wes_0001 hg19 bwa gatk freebayes combined 11 rs7715
dbSNP Clinvar
60701987 40.77 G A LowQual 0/1 0 SYNONYMOUS_CODING LOW None 0.42153 0.42150 0.37646 None None None None None None TMEM132A|0.032552659|68.37%

TRIM7

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 wes_0001 hg19 bwa gatk freebayes combined 5 rs2770945
dbSNP Clinvar
180631828 37.77 G C LowQual 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.11162 0.11160 0.22 0.05 None None None None None None TRIM7|0.09228032|52.76%
View wes_0001 hg19 bwa gatk freebayes combined 5 rs2545112
dbSNP Clinvar
180631817 34.77 T C LowQual 0/1 0 SYNONYMOUS_CODING LOW None 0.50619 0.50620 None None None None None None TRIM7|0.09228032|52.76%

USP31

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 wes_0001 hg19 bwa gatk freebayes combined 16 rs184560422
dbSNP Clinvar
23160238 47.77 A G LowQual 0/1 0 SYNONYMOUS_CODING LOW None 0.02696 0.02696 0.02335 None None None None None None USP31|0.07088354|57.26%

VPS37C

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 wes_0001 hg19 bwa gatk freebayes combined 11 rs754382
dbSNP Clinvar
60899767 46.77 A G LowQual 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.85324 0.85320 0.27128 0.80 0.00 None None None None None None VPS37C|0.05614625|60.89%

WTIP

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 wes_0001 hg19 bwa gatk freebayes combined 19 rs150721734
dbSNP Clinvar
34973087 37.77 G A LowQual 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.03195 0.03195 0.57 0.02 None None None None None None WTIP|0.033098736|68.11%

ZAR1

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 wes_0001 hg19 bwa gatk freebayes combined 4 . 48492849 35.77 G A LowQual 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.89 None None None None None None ZAR1|0.008324205|82.31%

ZNF320

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 wes_0001 hg19 bwa gatk freebayes combined 19 rs200273751
dbSNP Clinvar
53391501 35.77 T C LowQual 0/1 0 SYNONYMOUS_CODING LOW None 0.14337 0.14340 None None None None None None ZNF320|0.00111515|94.88%
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 wes_0001 hg19 bwa gatk freebayes combined 1 rs76732376
dbSNP Clinvar
161600792 48.77 A C LowQual 0/1 0 None None None 0.49141 0.49140 None None None None None None FCGR3A|0.001574377|92.43%,FCGR2B|0.005666385|85.02%,FCGR3B|0.001357203|93.56%
View wes_0001 hg19 bwa gatk freebayes combined 1 rs12036026
dbSNP Clinvar
162825258 34.77 T C LowQual 0/1 0 None None None 0.12979 0.12980 None None None None None None C1orf110|0.002183779|90.47%
View wes_0001 hg19 bwa gatk freebayes combined 1 rs12136860
dbSNP Clinvar
192546142 38.77 A G LowQual 0/1 0 None None None 0.03395 0.03395 None None None None None None RGS1|0.285121922|28.71%
View wes_0001 hg19 bwa gatk freebayes combined 1 rs4915345
dbSNP Clinvar
197102839 31.77 A C LowQual 0/1 0 None None None 0.81590 0.81590 None None None None None None ASPM|0.161871432|41.31%
View wes_0001 hg19 bwa gatk freebayes combined 1 rs16847895
dbSNP Clinvar
201122816 47.77 T C LowQual 0/1 0 None None None 0.12580 0.12580 None None None None None None TMEM9|0.094542822|52.23%
View wes_0001 hg19 bwa gatk freebayes combined 1 rs11811659
dbSNP Clinvar
201688897 30.77 T C LowQual 0/1 0 None None None 0.58846 0.58850 None None None None None None NAV1|0.501729014|15.76%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs11127175
dbSNP Clinvar
28814185 30.77 G T LowQual 0/1 0 None None None 0.29613 0.29610 None None None None None None PLB1|0.018823638|74.77%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs1881256
dbSNP Clinvar
28841021 36.77 G A LowQual 0/1 0 None None None 0.64796 0.64800 None None None None None None PLB1|0.018823638|74.77%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs56270786
dbSNP Clinvar
30143530 31.77 C T LowQual 0/1 0 None None None 0.00619 0.00619 0.00969 None None None None None None ALK|0.859785808|4.47%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs829574
dbSNP Clinvar
30682360 32.77 G A LowQual 0/1 0 None None None 0.73023 0.73020 None None None None None None LCLAT1|0.164209262|41%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs2276567
dbSNP Clinvar
30955528 31.77 C A LowQual 0/1 0 None None None 0.79054 0.79050 None None None None None None CAPN13|0.007226463|83.28%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs7602817
dbSNP Clinvar
31422187 43.77 G A LowQual 0/1 0 None None None 0.24321 0.24320 None None None None None None CAPN14|0.013270833|78.32%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs45494293
dbSNP Clinvar
32897206 36.77 A C LowQual 0/1 0 None None None 0.04193 0.04193 None None None None None None TTC27|0.207150934|35.89%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs11676264
dbSNP Clinvar
33746842 42.77 G C LowQual 0/1 0 None None None 0.30072 0.30070 None None None None None None RASGRP3|0.409208599|20.23%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs28404646
dbSNP Clinvar
97882648 44.77 G A LowQual 0/1 0 None None None 0.54812 0.54810 None None None None None None ANKRD36|0.001192347|94.46%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs2033747
dbSNP Clinvar
100916481 31.25 A G LowQual 1/1 0 None None None 0.33167 0.33170 None None None None None None LONRF2|0.008305787|82.33%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs566501219
dbSNP Clinvar
135199173 30.77 G C LowQual 0/1 0 None None None 0.00060 0.00060 None None None None None None MGAT5|0.683509788|8.97%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs201742966
dbSNP Clinvar
135260665 49.77 A G LowQual 0/1 0 None None None None None None None None None TMEM163|0.334528018|25.14%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs148420460
dbSNP Clinvar
135922944 34.77 C T LowQual 0/1 0 None None None 0.00739 0.00739 None None None None None None RAB3GAP1|0.302193442|27.47%,ZRANB3|0.132922312|45.49%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs2304601
dbSNP Clinvar
136528034 33.77 C A LowQual 0/1 0 None None None 0.20168 0.20170 None None None None None None UBXN4|0.177695859|39.34%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs3769001
dbSNP Clinvar
136626078 42.77 A G LowQual 0/1 0 None None None 0.21765 0.21770 None None None None None None MCM6|0.857412549|4.52%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs13017246
dbSNP Clinvar
141113798 32.77 G A LowQual 0/1 0 None None None 0.22185 0.22180 None None None None None None LRP1B|0.97329857|1.62%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs12463798
dbSNP Clinvar
148716099 34.77 G T LowQual 0/1 0 None None None 0.36082 0.36080 None None None None None None ORC4|0.790353646|6.12%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs10169816
dbSNP Clinvar
152139271 30.77 C T LowQual 0/1 0 None None None 0.55571 0.55570 None None None None None None NMI|0.002279821|90.21%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs3821322
dbSNP Clinvar
152214424 37.77 C T LowQual 0/1 0 None None None 0.52376 0.52380 None None None None None None TNFAIP6|0.338115785|24.96%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs55739115
dbSNP Clinvar
183843744 30.77 T C LowQual 0/1 0 None None None 0.17292 0.17290 None None None None None None NCKAP1|0.669863571|9.37%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs1568368
dbSNP Clinvar
197008529 47.77 C T LowQual 0/1 0 None None None 0.70288 0.70290 None None None None None None STK17B|0.190903367|37.72%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs2272189
dbSNP Clinvar
219610322 31.77 G A LowQual 0/1 0 None None None 0.44748 0.44750 None None None None None None TTLL4|0.074949486|56.31%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs11891205
dbSNP Clinvar
219888259 48.77 A G LowQual 0/1 0 None None None 0.19589 0.19590 None None None None None None CCDC108|0.017724873|75.46%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs7560948
dbSNP Clinvar
219890979 31.77 T C LowQual 0/1 0 None None None 0.21126 0.21130 None None None None None None CCDC108|0.017724873|75.46%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs3731906
dbSNP Clinvar
220346596 35.77 C T LowQual 0/1 0 None None None 0.49681 0.49680 None None None None None None SPEG|0.194067813|37.41%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs74002071
dbSNP Clinvar
240923310 49.77 T G LowQual 0/1 0 None None None 0.10004 0.10000 None None None None None None NDUFA10|0.004917761|85.89%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs508944
dbSNP Clinvar
241079884 31.77 A T LowQual 0/1 0 None None None 0.19090 0.19090 None None None None None None OTOS|0.040562317|65.59%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs2975786
dbSNP Clinvar
241570391 39.77 A G LowQual 0/1 0 None None None 0.83666 0.83670 None None None None None None GPR35|0.002428649|89.83%
View wes_0001 hg19 bwa gatk freebayes combined 2 rs3821346
dbSNP Clinvar
241706874 48.77 C T LowQual 0/1 0 None None None 0.10304 0.10300 None None None None None None KIF1A|0.102859335|50.62%
View wes_0001 hg19 bwa gatk freebayes combined 3 rs775876533
dbSNP Clinvar
23963065 36.77 T G LowQual 0/1 0 None None None None None None None None None NKIRAS1|0.102321774|50.73%,RPL15|0.385832061|21.68%
View wes_0001 hg19 bwa gatk freebayes combined 3 rs74928881
dbSNP Clinvar
24563021 48.77 G C LowQual 0/1 0 None None None 0.32089 0.32090 None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined 3 rs9811585
dbSNP Clinvar
35724596 40.77 T G LowQual 0/1 0 None None None 0.44349 0.44350 None None None None None None ARPP21|0.628941513|10.81%
View wes_0001 hg19 bwa gatk freebayes combined 3 rs2305234
dbSNP Clinvar
35785608 30.77 G A LowQual 0/1 0 None None None 0.08167 0.08167 None None None None None None ARPP21|0.628941513|10.81%
View wes_0001 hg19 bwa gatk freebayes combined 3 rs3732384
dbSNP Clinvar
36872224 38.77 T C LowQual 0/1 0 None None None 0.33127 0.33130 None None None None None None TRANK1|0.04175171|65.2%
View wes_0001 hg19 bwa gatk freebayes combined 3 rs472893
dbSNP Clinvar
37535865 46.77 T C LowQual 0/1 0 None None None 0.62740 0.62740 None None None None None None ITGA9|0.291839002|28.24%
View wes_0001 hg19 bwa gatk freebayes combined 3 rs539108
dbSNP Clinvar
37535866 46.77 G A LowQual 0/1 0 None None None 0.50839 0.50840 None None None None None None ITGA9|0.291839002|28.24%
View wes_0001 hg19 bwa gatk freebayes combined 3 rs267523
dbSNP Clinvar
37536225 35.77 C A LowQual 0/1 0 None None None 0.63279 0.63280 None None None None None None ITGA9|0.291839002|28.24%
View wes_0001 hg19 bwa gatk freebayes combined 3 rs6777340
dbSNP Clinvar
52188308 47.77 T C LowQual 0/1 0 None None None 0.34086 0.34090 0.20733 None None None None None None POC1A|0.288693394|28.46%
View wes_0001 hg19 bwa gatk freebayes combined 3 rs3733046
dbSNP Clinvar
52621627 33.77 C T LowQual 0/1 0 None None None 0.44689 0.44690 None None None None None None PBRM1|0.664761336|9.54%
View wes_0001 hg19 bwa gatk freebayes combined 3 rs73152412
dbSNP Clinvar
100514848 35.77 C G LowQual 0/1 0 None None None 0.11482 0.11480 None None None None None None ABI3BP|0.072954425|56.79%
View wes_0001 hg19 bwa gatk freebayes combined 3 rs12152417
dbSNP Clinvar
100530791 39.77 T C LowQual 0/1 0 None None None 0.11482 0.11480 None None None None None None ABI3BP|0.072954425|56.79%
View wes_0001 hg19 bwa gatk freebayes combined 3 rs349536
dbSNP Clinvar
140251487 36.77 T C LowQual 0/1 0 None None None 0.39996 0.40000 None None None None None None CLSTN2|0.522285531|14.88%
View wes_0001 hg19 bwa gatk freebayes combined 3 rs6771494
dbSNP Clinvar
140784929 40.77 T C LowQual 0/1 0 None None None 0.45168 0.45170 0.27025 None None None None None None SPSB4|0.225435088|33.84%
View wes_0001 hg19 bwa gatk freebayes combined 3 rs11925747
dbSNP Clinvar
141896522 35.77 T A LowQual 0/1 0 None None None 0.12560 0.12560 None None None None None None GK5|0.050890253|62.4%
View wes_0001 hg19 bwa gatk freebayes combined 4 . 15640473 31.77 A C LowQual 0/1 0 None None None None None None None None None FBXL5|0.363519658|23.19%
View wes_0001 hg19 bwa gatk freebayes combined 3 rs4686525
dbSNP Clinvar
189456729 37.77 C G LowQual 0/1 0 None None None 0.65336 0.65340 None None None None None None TP63|0.989489867|1.11%
View wes_0001 hg19 bwa gatk freebayes combined 3 rs4481103
dbSNP Clinvar
192997432 35.77 C T LowQual 0/1 0 None None None 0.48163 0.48160 None None None None None None ATP13A5|0.051025682|62.36%
View wes_0001 hg19 bwa gatk freebayes combined 4 rs116671326
dbSNP Clinvar
4190508 43.77 C T LowQual 0/1 0 None None None None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined 4 rs10937658
dbSNP Clinvar
5682811 35.77 G A LowQual 0/1 0 None None None 0.22744 0.22740 None None None None None None EVC2|0.018780788|74.81%
View wes_0001 hg19 bwa gatk freebayes combined 4 rs4689398
dbSNP Clinvar
6302199 31.77 C T LowQual 0/1 0 None None None 0.65615 0.65620 None None None None None None WFS1|0.225742755|33.79%
View wes_0001 hg19 bwa gatk freebayes combined 4 rs4688991
dbSNP Clinvar
6302220 32.77 C G LowQual 0/1 0 None None None 0.65695 0.65690 None None None None None None WFS1|0.225742755|33.79%
View wes_0001 hg19 bwa gatk freebayes combined 4 rs7696271
dbSNP Clinvar
48177954 33.77 A G LowQual 0/1 0 None None None 0.51937 0.51940 None None None None None None TEC|0.720083632|7.97%
View wes_0001 hg19 bwa gatk freebayes combined 4 rs3838233
dbSNP Clinvar
48537633 43.77 T C LowQual 0/1 0 None None None 0.48343 0.48340 0.25230 None None None None None None FRYL|0.342095381|24.68%
View wes_0001 hg19 bwa gatk freebayes combined 4 rs6840758
dbSNP Clinvar
96761144 39.77 T C LowQual 0/1 0 None None None 0.59285 0.59290 None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined 4 rs6533051
dbSNP Clinvar
103911222 35.77 C G LowQual 0/1 0 None None None 0.56290 0.56290 None None None None None None SLC9B1|0.003950683|87.1%
View wes_0001 hg19 bwa gatk freebayes combined 4 rs11301777
dbSNP Clinvar
106291824 38.77 G A LowQual 0/1 0 None None None 0.32089 0.32090 None None None None None None PPA2|0.061865166|59.36%
View wes_0001 hg19 bwa gatk freebayes combined 4 rs28368477
dbSNP Clinvar
154514800 30.77 G A LowQual 0/1 0 None None None 0.02356 0.02356 None None None None None None KIAA0922|0.054275896|61.4%
View wes_0001 hg19 bwa gatk freebayes combined 4 rs2102575
dbSNP Clinvar
187131504 33.77 G A LowQual 0/1 0 None None None 0.91034 0.91030 None None None None None None CYP4V2|0.027940176|70.46%,KLKB1|0.016624072|76.14%
View wes_0001 hg19 bwa gatk freebayes combined 4 rs11940227
dbSNP Clinvar
189065441 34.77 G T LowQual 0/1 0 None None None 0.41913 0.41910 None None None None None None TRIML1|0.020324106|74.01%
View wes_0001 hg19 bwa gatk freebayes combined 4 rs7679996
dbSNP Clinvar
190884085 35.77 T C LowQual 0/1 0 None None None 0.39677 0.39680 None None None None None None FRG1|0.098149242|51.5%
View wes_0001 hg19 bwa gatk freebayes combined 5 rs1035909
dbSNP Clinvar
465633 44.81 C T LowQual 0/1 0 None None None 0.58946 0.58950 None None None None None None EXOC3|0.113521181|48.58%