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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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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

CASP12, DNAH11, FLG2, FUT2, NDUFB9, PLG, SYNE2,
CASP12 {Sepsis, susceptibility to} (3)
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
FLG2 Peeling skin syndrome 6, 618084 (3)
FUT2 {Norwalk virus infection, resistance to} (3)
{Vitamin B12 plasma level QTL1}, 612542 (3)
[Bombay phenotype, digenic], 616754 (3)
NDUFB9 ?Mitochondrial complex I deficiency, nuclear type 24, 618245 (3)
PLG Dysplasminogenemia, 217090 (3)
Plasminogen deficiency, type I, 217090 (3)
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)

Genes at Clinical Genomics Database

DNAH11, PLG, SYNE2,
DNAH11 Ciliary dyskinesia, primary, 7
PLG Plasminogen deficiency, type I
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Genes at HGMD

Summary

Number of Variants: 69
Number of Genes: 62

Export to: CSV
  • Page 1 of 1

ABCA10

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 p0085_filtered 17 rs11077414
dbSNP Clinvar
67212031 535.77 A T VQSRTrancheSNP90.00to99.00 0/1 0 STOP_GAINED HIGH None 0.06470 0.47140 None None None None None None ABCA10|0.002179826|90.49%

AC074389.6

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 p0085_filtered 7 rs117250982
dbSNP Clinvar
1733474 1268.77 G A PASS 0/1 0 STOP_GAINED HIGH None 0.00859 0.00859 None None None None None None ELFN1|0.050148349|62.62%

AC114783.1

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 p0085_filtered 2 rs61730220
dbSNP Clinvar
127656861 1120.77 C T PASS 0/1 0 STOP_GAINED HIGH None 0.04932 0.04932 None None None None None None None

ANKDD1B

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 p0085_filtered 5 rs34358
dbSNP Clinvar
74965122 2112.77 G A PASS 1/1 0 STOP_GAINED HIGH None 0.50699 0.50700 None None None None None None ANKDD1B|0.036539802|66.95%

C5orf20

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 p0085_filtered 5 rs12520799
dbSNP Clinvar
134782450 3980.77 T A PASS 1/1 0 STOP_GAINED HIGH None 0.64517 0.64520 0.40151 None None None None None None DCANP1|0.000625841|97.73%,TIFAB|0.012847206|78.59%

CALML4

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 p0085_filtered 15 rs11071990
dbSNP Clinvar
68497597 1038.77 G A PASS 0/1 0 STOP_GAINED HIGH None 0.08446 0.08446 0.08241 None None None None None None CALML4|0.036025544|67.12%

CAPN8

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 p0085_filtered 1 rs34606532
dbSNP Clinvar
223722780 335.77 G A PASS 0/1 0 STOP_GAINED HIGH None 0.44349 0.44350 0.45642 None None None None None None CAPN8|0.042652474|64.89%

CASP12

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 p0085_filtered 11 rs497116
dbSNP Clinvar
104763117 2456.77 G A PASS 1/1 0 STOP_GAINED HIGH None 0.94848 0.94850 None None None None None None CASP12|0.001761043|91.65%

CLDN5

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 p0085_filtered 22 rs885985
dbSNP Clinvar
19511925 1219.77 G A VQSRTrancheSNP90.00to99.00 0/1 0 STOP_GAINED HIGH None 0.49681 0.49680 None None None None None None CLDN5|0.101200006|50.93%

CNTN5

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 p0085_filtered 11 rs12292659
dbSNP Clinvar
99690376 324.77 C T VQSRTrancheSNP90.00to99.00 0/1 0 STOP_GAINED HIGH None 0.23515 None None None None None None CNTN5|0.790800052|6.1%

DNAH11

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 p0085_filtered 7 rs2285943
dbSNP Clinvar
21582963 4070.77 G T VQSRTrancheSNP99.00to99.90 1/1 0 STOP_GAINED HIGH None 0.41194 0.41190 0.42685 None None None None None None DNAH11|0.38215847|21.9%

DTNB

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 p0085_filtered 2 . 25611227 1273.77 G A PASS 0/1 0 STOP_GAINED HIGH None None None None None None None DTNB|0.389089308|21.48%

ERV3-1

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 p0085_filtered 7 rs67047829
dbSNP Clinvar
64452738 580.77 G A VQSRTrancheSNP90.00to99.00 0/1 0 STOP_GAINED HIGH None 0.11522 0.11520 0.06697 None None None None None None ZNF117|0.000669116|97.44%,ERV3-1|0.001438997|93.11%

FAM187B

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 p0085_filtered 19 rs541169
dbSNP Clinvar
35719020 2583.77 C T VQSRTrancheSNP90.00to99.00 0/1 0 STOP_GAINED HIGH None 0.31829 0.31830 0.32539 None None None None None None FAM187B|0.000243224|99.64%

FAM81B

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 p0085_filtered 5 rs35391433
dbSNP Clinvar
94749787 1209.77 C T VQSRTrancheSNP90.00to99.00 0/1 0 STOP_GAINED HIGH None 0.01398 0.01398 0.02170 None None None None None None FAM81B|0.072891187|56.8%

FCRL6

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 p0085_filtered 1 rs61823162
dbSNP Clinvar
159785413 2238.77 C T PASS 0/1 0 STOP_GAINED HIGH None 0.05771 0.05771 0.10080 None None None None None None FCRL6|0.001326512|93.71%

FLG2

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 p0085_filtered 1 rs12568784
dbSNP Clinvar
152323132 2329.77 G T VQSRTrancheSNP90.00to99.00 0/1 0 STOP_GAINED HIGH None 0.31689 0.31690 0.19345 None None None None None None FLG2|0.000542736|98.23%

FMO6P

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 p0085_filtered 1 rs1736565
dbSNP Clinvar
171112490 589.77 C T PASS 1/1 0 STOP_GAINED HIGH None 0.63798 0.63800 None None None None None None FMO6P|0.046611182|63.71%

FUT2

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 p0085_filtered 19 rs601338
dbSNP Clinvar
49206674 830.77 G A VQSRTrancheSNP90.00to99.00 0/1 0 STOP_GAINED HIGH None 0.32169 0.32170 0.49346 None None None None None None FUT2|0.006958625|83.54%

GAB4

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 p0085_filtered 22 rs28502153
dbSNP Clinvar
17469049 765.77 C A PASS 0/1 0 STOP_GAINED HIGH None 0.35363 0.35360 0.33850 None None None None None None GAB4|0.003932508|87.14%

GBGT1

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 p0085_filtered 9 rs35898523
dbSNP Clinvar
136029645 864.77 G T PASS 0/1 0 STOP_GAINED HIGH None 0.04293 0.04293 0.06366 None None None None None None RALGDS|0.044227196|64.43%,GBGT1|0.021712622|73.32%

H2BFM

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 p0085_filtered X rs2301384
dbSNP Clinvar
103294760 227.77 C T VQSRTrancheSNP99.90to100.00 0/1 0 STOP_GAINED HIGH None 0.30649 0.30650 0.31444 None None None None None None H2BFM|0.000467272|98.6%

IGKV1D-8

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 p0085_filtered 2 rs201899294
dbSNP Clinvar
90259979 278.77 C T VQSRTrancheSNP99.00to99.90 0/1 0 STOP_GAINED HIGH None 0.00559 0.00559 None None None None None None None

IL17RB

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 p0085_filtered 3 rs1043261
dbSNP Clinvar
53899276 2398.77 C T PASS 1/1 0 STOP_GAINED HIGH None 0.13518 0.13520 0.08396 None None None None None None IL17RB|0.015681816|76.66%

KRTAP13-2

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 p0085_filtered 21 rs877346
dbSNP Clinvar
31744127 398.77 A T VQSRTrancheSNP99.00to99.90 0/1 0 STOP_GAINED HIGH None 0.31809 0.31810 0.39397 None None None None None None KRTAP13-2|0.007131387|83.36%

LINC00955

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 p0085_filtered 4 rs62272968
dbSNP Clinvar
3590730 1115.77 G A VQSRTrancheSNP99.00to99.90 0/1 0 STOP_GAINED HIGH None None None None None None None LINC00955|0.001348255|93.6%

MAP2K3

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 p0085_filtered 17 rs55796947
dbSNP Clinvar
21204210 2379.77 C T VQSRTrancheSNP99.90to100.00 0/1 0 STOP_GAINED HIGH None None None None None None None MAP2K3|0.4379498|18.79%

MOB3C

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 p0085_filtered 1 rs6671527
dbSNP Clinvar
47080679 2305.77 G A PASS 1/1 0 STOP_GAINED HIGH None 0.64217 0.64220 0.49877 None None None None None None MKNK1|0.390435521|21.38%,MOB3C|0.199575043|36.77%

MS4A12

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 p0085_filtered 11 rs2298553
dbSNP Clinvar
60265002 529.77 C T VQSRTrancheSNP90.00to99.00 0/1 0 STOP_GAINED HIGH None 0.47824 0.47820 0.45241 None None None None None None MS4A12|0.000555931|98.15%

MUC19

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 p0085_filtered 12 rs10784618
dbSNP Clinvar
40834955 1189.77 C A PASS 0/1 0 STOP_GAINED HIGH None 0.51837 0.51840 None None None None None None MUC19|0.001564481|92.49%

MUC3A

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 p0085_filtered 7 rs79874934
dbSNP Clinvar
100552738 5409.77 C T VQSRTrancheSNP99.90to100.00 0/1 0 STOP_GAINED HIGH None None None None None None None MUC3A|0.001683398|91.94%

NDUFB9

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 p0085_filtered 8 rs6470252
dbSNP Clinvar
125579990 675.77 C T PASS 0/1 0 STOP_GAINED HIGH None 0.62460 0.62460 None None None None None None NDUFB9|0.09890784|51.37%,MTSS1|0.361449802|23.34%

OR10D3

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 p0085_filtered 11 rs2512227
dbSNP Clinvar
124056732 1148.77 T G PASS 0/1 0 STOP_GAINED HIGH None 0.49141 0.49140 None None None None None None OR10D3|0.003266874|88.16%

OR10X1

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 p0085_filtered 1 rs863362
dbSNP Clinvar
158549492 2054.77 C T PASS 1/1 0 STOP_GAINED HIGH None 0.50240 0.50240 0.48631 None None None None None None OR10X1|0.012275665|79.05%

OR4C16

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 p0085_filtered 11 rs1459101
dbSNP Clinvar
55339652 747.77 C T PASS 0/1 0 STOP_GAINED HIGH None 0.25260 0.25260 0.21941 None None None None None None OR4C16|0.00479956|86.1%

OR4C3

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 p0085_filtered 11 rs72473368
dbSNP Clinvar
48347014 2773.77 G A VQSRTrancheSNP99.90to100.00 0/1 0 STOP_GAINED HIGH None None None None None None None OR4C3|0.012915684|78.55%

OR4C5

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 p0085_filtered 11 rs74338058
dbSNP Clinvar
48387900 1626.77 G A VQSRTrancheSNP99.90to100.00 0/1 0 STOP_GAINED HIGH None None None None None None None OR4C5|0.011466291|79.62%
View p0085_filtered 11 rs73460781
dbSNP Clinvar
48387850 1726.77 G T VQSRTrancheSNP99.90to100.00 0/1 0 STOP_GAINED HIGH None None None None None None None OR4C5|0.011466291|79.62%
View p0085_filtered 11 rs78160589
dbSNP Clinvar
48387978 631.77 T A VQSRTrancheSNP99.90to100.00 0/1 0 STOP_GAINED HIGH None None None None None None None OR4C5|0.011466291|79.62%
View p0085_filtered 11 rs77053100
dbSNP Clinvar
48387201 608.77 G A VQSRTrancheSNP99.90to100.00 0/1 0 STOP_GAINED HIGH None None None None None None None OR4C5|0.011466291|79.62%

OR4X1

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 p0085_filtered 11 rs10838851
dbSNP Clinvar
48286231 1490.77 T A PASS 0/1 0 STOP_GAINED HIGH None 0.60423 0.60420 0.30936 None None None None None None OR4X1|0.01331956|78.29%

OR51Q1

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 p0085_filtered 11 rs2647574
dbSNP Clinvar
5444136 3057.77 C T PASS 1/1 0 STOP_GAINED HIGH None 0.45387 0.45390 0.36196 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR51Q1|0.017477394|75.61%

OR5AR1

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 p0085_filtered 11 rs11228710
dbSNP Clinvar
56431216 1253.77 C T VQSRTrancheSNP90.00to99.00 0/1 0 STOP_GAINED HIGH None 0.62300 0.62300 0.42966 None None None None None None OR5AR1|0.094213809|52.31%

OR6C74

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 p0085_filtered 12 rs4522268
dbSNP Clinvar
55641255 952.77 C T PASS 0/1 0 STOP_GAINED HIGH None 0.23562 0.23560 0.27195 None None None None None None OR6C74|0.008073423|82.57%

OXGR1

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 p0085_filtered 13 . 97639819 1399.77 C T PASS 0/1 0 STOP_GAINED HIGH None None None None None None None OXGR1|0.041639708|65.24%

PDE4DIP

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 p0085_filtered 1 rs1698683
dbSNP Clinvar
144916676 96.77 C T PASS 0/1 0 STOP_GAINED HIGH None 0.32120 None None None None None None PDE4DIP|0.07469644|56.36%
View p0085_filtered 1 rs2762779
dbSNP Clinvar
145075683 2066.77 C T VQSRTrancheSNP99.00to99.90 0/1 0 STOP_GAINED HIGH None None None None None None None PDE4DIP|0.07469644|56.36%

PKD1L2

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 p0085_filtered 16 rs12925771
dbSNP Clinvar
81199544 1483.77 G A VQSRTrancheSNP99.00to99.90 0/1 0 STOP_GAINED HIGH None 0.38718 0.38720 0.22989 None None None None None None PKD1L2|0.005531409|85.17%
View p0085_filtered 16 rs7499011
dbSNP Clinvar
81242198 1019.77 G A VQSRTrancheSNP90.00to99.00 0/1 0 STOP_GAINED HIGH None 0.16174 0.16170 0.29020 None None None None None None PKD1L2|0.005531409|85.17%

PLEKHH1

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 p0085_filtered 14 rs111462449
dbSNP Clinvar
68053899 1632.77 C T VQSRTrancheSNP90.00to99.00 0/1 0 STOP_GAINED HIGH None 0.00359 0.00359 0.00863 None None None None None None PLEKHH1|0.065091772|58.61%,PIGH|0.202155178|36.51%

PLG

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 p0085_filtered 6 . 161152133 106.77 G A VQSRTrancheSNP99.00to99.90 0/1 0 STOP_GAINED HIGH None None None None None None None PLG|0.171403071|40.11%

PRIM2

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 p0085_filtered 6 rs62398999
dbSNP Clinvar
57398270 645.77 C T VQSRTrancheSNP99.90to100.00 0/1 0 STOP_GAINED HIGH None None None None None None None PRIM2|0.188824743|37.96%
View p0085_filtered 6 rs71214816
dbSNP Clinvar
57398207 397.77 G T VQSRTrancheSNP99.90to100.00 0/1 0 STOP_GAINED HIGH None None None None None None None PRIM2|0.188824743|37.96%

RAD52

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 p0085_filtered 12 rs4987208
dbSNP Clinvar
1022569 347.77 A C VQSRTrancheSNP99.00to99.90 0/1 0 STOP_GAINED HIGH None 0.02216 0.02216 0.01477 None None None None None None RAD52|0.088397129|53.56%

SLC22A24

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 p0085_filtered 11 rs11231341
dbSNP Clinvar
62848487 385.77 A C VQSRTrancheSNP90.00to99.00 0/1 0 STOP_GAINED HIGH None 0.75399 0.75400 0.25340 None None None None None None SLC22A24|0.000834138|96.47%

SLC6A18

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 p0085_filtered 5 rs7447815
dbSNP Clinvar
1240757 2178.77 C G PASS 0/1 0 STOP_GAINED HIGH None 0.00060 0.34860 0.36445 None None None None None None SLC6A18|0.029366379|69.67%

SMUG1

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 p0085_filtered 12 rs2233919
dbSNP Clinvar
54577718 952.77 G A VQSRTrancheSNP90.00to99.00 0/1 0 STOP_GAINED HIGH None 0.01518 0.01518 0.01631 None None None None None None SMUG1|0.284909482|28.72%

STARD6

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 p0085_filtered 18 rs17292725
dbSNP Clinvar
51880889 1377.77 G A PASS 0/1 0 STOP_GAINED HIGH None 0.01458 0.01458 0.02860 None None None None None None STARD6|0.045715453|63.98%

SYNE2

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 p0085_filtered 14 rs2781377
dbSNP Clinvar
64560092 807.77 G A PASS 0/1 0 STOP_GAINED HIGH None 0.12240 0.12240 0.07666 None None None None None None SYNE2|0.091751196|52.87%,ESR2|0.956786277|2.04%

TRAV35

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 p0085_filtered 14 rs17198047
dbSNP Clinvar
22690191 424.77 G A VQSRTrancheSNP90.00to99.00 0/1 0 STOP_GAINED HIGH None 0.01977 0.01977 0.05706 None None None None None None None

TRBV10-1

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 p0085_filtered 7 . 142231780 21.8 C T VQSRTrancheSNP99.00to99.90 0/1 0 STOP_GAINED HIGH None None None None None None None None
View p0085_filtered 7 rs17249
dbSNP Clinvar
142231625 3545.77 C A VQSRTrancheSNP90.00to99.00 1/1 0 STOP_GAINED HIGH None 0.24860 0.24860 0.38197 None None None None None None None

TTC4

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 p0085_filtered 1 rs1147990
dbSNP Clinvar
55182300 681.77 T A PASS 0/1 0 STOP_GAINED HIGH None 0.66833 0.66830 0.47509 0.27 0.00 None None None None None None TTC4|0.085109121|54.15%

UBE2NL

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 p0085_filtered X rs237520
dbSNP Clinvar
142967468 560.77 T G VQSRTrancheSNP90.00to99.00 1/1 0 STOP_GAINED HIGH None 0.61748 0.61750 0.33314 None None None None None None UBE2NL|0.004200754|86.73%

UGT2A1

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 p0085_filtered 4 rs111696697
dbSNP Clinvar
70512787 1030.77 A T VQSRTrancheSNP90.00to99.00 0/1 0 STOP_GAINED HIGH None 0.01458 0.01458 0.03038 None None None None None None UGT2A1|0.05524136|61.14%

USP29

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 p0085_filtered 19 rs9973206
dbSNP Clinvar
57642782 2610.77 C A PASS 1/1 0 STOP_GAINED HIGH None 0.95208 0.95210 0.11704 None None None None None None USP29|0.000863165|96.27%

ZC3H3

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 p0085_filtered 8 rs2272754
dbSNP Clinvar
144522387 1051.77 G T VQSRTrancheSNP90.00to99.00 0/1 0 STOP_GAINED HIGH None 0.11182 0.11180 0.08943 None None None None None None ZC3H3|0.004437994|86.46%

ZNF717

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 p0085_filtered 3 rs113991634
dbSNP Clinvar
75790838 304.84 C T VQSRTrancheSNP99.90to100.00 0/1 0 STOP_GAINED HIGH None None None None None None None ZNF717|0.000754901|96.97%

ZNF77

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 p0085_filtered 19 rs35699176
dbSNP Clinvar
2936535 1006.77 G A PASS 1/1 0 STOP_GAINED HIGH None 0.02017 0.02017 0.03583 None None None None None None ZNF77|0.000671076|97.43%
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