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EXCLUDE VARIANTS AT VARISNP
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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

CCDC114, CCDC39, CCDC40, CCDC65, DNAAF1, DNAH11, DNAH5, DNAH9, DNAJB13, DRC1, GAS8, HYDIN, KATNB1, NME8, RSPH1, SPAG1,
CCDC114 Ciliary dyskinesia, primary, 20, 615067 (3)
CCDC39 Ciliary dyskinesia, primary, 14, 613807 (3)
CCDC40 Ciliary dyskinesia, primary, 15, 613808 (3)
CCDC65 Ciliary dyskinesia, primary, 27, 615504 (3)
DNAAF1 Ciliary dyskinesia, primary, 13, 613193 (3)
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DNAH9 Ciliary dyskinesia, primary, 40, 618300 (3)
DNAJB13 Ciliary dyskinesia, primary, 34, 617091 (3)
DRC1 Ciliary dyskinesia, primary, 21, 615294 (3)
GAS8 Ciliary dyskinesia, primary, 33, 616726 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
KATNB1 Lissencephaly 6, with microcephaly, 616212 (3)
NME8 Ciliary dyskinesia, primary, 6, 610852 (3)
RSPH1 Ciliary dyskinesia, primary, 24, 615481 (3)
SPAG1 Ciliary dyskinesia, primary, 28, 615505 (3)

Genes at Clinical Genomics Database

CCDC114, CCDC39, CCDC40, CCDC65, DNAAF1, DNAAF2, DNAH11, DNAH5, GAS8, KATNB1, NME8, RSPH1,
CCDC114 Ciliary dyskinesia, primary, 20
CCDC39 Ciliary dyskinesia, primary, 14
CCDC40 Ciliary dyskinesia, primary, 15
CCDC65 Ciliary dyskinesia, primary, 27
DNAAF1 Ciliary dyskinesia, primary, 13
DNAAF2 Ciliary dyskinesia, primary, 10
DNAH11 Ciliary dyskinesia, primary, 7
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
GAS8 Ciliary dyskinesia, primary, 33
KATNB1 Lissencephaly 6, with microcephaly
NME8 Ciliary dyskinesia, primary, 6
RSPH1 Ciliary dyskinesia, primary, 24

Genes at HGMD

Summary

Number of Variants: 103
Number of Genes: 35

Export to: CSV

C10orf107

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 20163-01-01_s18-kopie 10 rs1992625
dbSNP Clinvar
63520698 7294.72 T C PASS 0/1 662 SYNONYMOUS_CODING LOW SILENT 0.87201 0.87200 0.18156 None None None None None None C10orf107|0.277213376|29.34%

C1orf222

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 20163-01-01_s18-kopie 1 rs2803337
dbSNP Clinvar
1875859 6681.11 A G PASS 0/1 862 SYNONYMOUS_CODING LOW SILENT 0.39776 0.39780 None None None None None None CFAP74|0.001720148|91.8%
View 20163-01-01_s18-kopie 1 rs2803326
dbSNP Clinvar
1873514 8618.0 A G PASS 0/1 886 SYNONYMOUS_CODING LOW SILENT 0.59245 0.59250 None None None None None None CFAP74|0.001720148|91.8%

CCDC114

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 20163-01-01_s18-kopie 19 rs2242463
dbSNP Clinvar
48806977 9044.45 G A PASS 0/1 834 SYNONYMOUS_CODING LOW SILENT 0.15336 0.15340 0.17884 None None None None None None CCDC114|0.001933114|91.16%
View 20163-01-01_s18-kopie 19 rs28582401
dbSNP Clinvar
48807367 8317.55 C A PASS 0/1 767 SYNONYMOUS_CODING LOW SILENT 0.15395 0.15400 0.17938 None None None None None None CCDC114|0.001933114|91.16%
View 20163-01-01_s18-kopie 19 rs7252988
dbSNP Clinvar
48800338 24672.63 A G PASS 1/1 929 SYNONYMOUS_CODING LOW SILENT 0.46466 0.46470 0.37744 None None None None None None CCDC114|0.001933114|91.16%

CCDC39

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 20163-01-01_s18-kopie 3 rs6769457
dbSNP Clinvar
180365956 6464.54 G A PASS 0/1 510 SYNONYMOUS_CODING LOW SILENT 0.31889 0.31890 0.34692 None None None None None None CCDC39|0.085554052|54.04%
View 20163-01-01_s18-kopie 3 rs7612917
dbSNP Clinvar
180334623 2407.03 C T PASS 0/1 392 SYNONYMOUS_CODING LOW SILENT 0.13139 0.13140 0.18180 None None None None None None TTC14|0.325934886|25.76%,CCDC39|0.085554052|54.04%

CCDC40

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 20163-01-01_s18-kopie 17 rs2304854
dbSNP Clinvar
78073562 10228.92 A G PASS 0/1 929 SYNONYMOUS_CODING LOW SILENT 0.50160 0.50160 0.49195 None None None None None None CCDC40|0.000987297|95.52%
View 20163-01-01_s18-kopie 17 rs2289527
dbSNP Clinvar
78013724 23031.51 G C PASS 1/1 775 SYNONYMOUS_CODING LOW SILENT 0.95727 0.95730 0.00622 None None None None None None CCDC40|0.000987297|95.52%
View 20163-01-01_s18-kopie 17 rs35578653
dbSNP Clinvar
78055758 28635.54 T G PASS 1/1 1042 SYNONYMOUS_CODING LOW SILENT 0.46426 0.46430 0.47895 None None None None None None CCDC40|0.000987297|95.52%
View 20163-01-01_s18-kopie 17 rs12952612
dbSNP Clinvar
78071052 13093.1 T C PASS 1/1 428 SYNONYMOUS_CODING LOW SILENT 0.71426 0.71430 0.26281 None None None None None None CCDC40|0.000987297|95.52%
View 20163-01-01_s18-kopie 17 rs56407805
dbSNP Clinvar
78073355 7747.34 A G PASS 0/1 698 SYNONYMOUS_CODING LOW SILENT 0.39457 0.39460 0.34773 None None None None None None CCDC40|0.000987297|95.52%

CCDC65

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 20163-01-01_s18-kopie 12 rs10875893
dbSNP Clinvar
49312593 6617.37 A G PASS 0/1 642 SYNONYMOUS_CODING LOW SILENT 0.30771 0.30770 0.30632 None None None None None None CCDC65|0.09413439|52.33%
View 20163-01-01_s18-kopie 12 rs10875894
dbSNP Clinvar
49314862 1383.37 C A PASS 0/1 188 SYNONYMOUS_CODING LOW SILENT 0.30831 0.30830 0.30532 None None None None None None CCDC65|0.09413439|52.33%

DNAAF1

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 20163-01-01_s18-kopie 16 rs2288019
dbSNP Clinvar
84209634 16411.46 C G PASS 1/1 551 SYNONYMOUS_CODING LOW SILENT 0.53175 0.53170 0.48931 None None None None None None DNAAF1|0.000486573|98.51%

DNAAF2

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 20163-01-01_s18-kopie 14 rs2985685
dbSNP Clinvar
50101370 10140.87 G A PASS 0/1 911 SYNONYMOUS_CODING LOW SILENT 0.49341 0.49340 0.31475 None None None None None None DNAAF2|0.034155944|67.73%
View 20163-01-01_s18-kopie 14 rs2985686
dbSNP Clinvar
50100683 1885.23 C G PASS 0/1 177 SYNONYMOUS_CODING LOW SILENT 0.55911 0.55910 None None None None None None DNAAF2|0.034155944|67.73%
View 20163-01-01_s18-kopie 14 rs2985687
dbSNP Clinvar
50100386 12264.49 T C PASS 0/1 1138 SYNONYMOUS_CODING LOW SILENT 0.48822 0.48820 0.33364 None None None None None None DNAAF2|0.034155944|67.73%

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 20163-01-01_s18-kopie 7 rs55666134
dbSNP Clinvar
21723431 3861.15 G A PASS 0/1 468 SYNONYMOUS_CODING LOW SILENT 0.10224 0.10220 0.11616 None None None None None None DNAH11|0.38215847|21.9%
View 20163-01-01_s18-kopie 7 rs3827657
dbSNP Clinvar
21641218 7861.01 G A PASS 0/1 732 SYNONYMOUS_CODING LOW SILENT 0.75379 0.75380 0.19933 None None None None None None DNAH11|0.38215847|21.9%
View 20163-01-01_s18-kopie 7 rs6963535
dbSNP Clinvar
21628237 4886.42 C T PASS 1/1 173 SYNONYMOUS_CODING LOW SILENT 0.99062 0.99060 0.00987 None None None None None None DNAH11|0.38215847|21.9%
View 20163-01-01_s18-kopie 7 rs72658834
dbSNP Clinvar
21939698 5860.9 G C PASS 0/1 589 SYNONYMOUS_CODING LOW SILENT 0.00359 0.00359 0.00942 None None None None None None DNAH11|0.38215847|21.9%
View 20163-01-01_s18-kopie 7 rs2072221
dbSNP Clinvar
21775443 16408.88 G A PASS 1/1 558 SYNONYMOUS_CODING LOW SILENT 0.01118 0.75540 0.14250 None None None None None None DNAH11|0.38215847|21.9%
View 20163-01-01_s18-kopie 7 rs1109806
dbSNP Clinvar
21778449 5256.19 C T PASS 1/1 184 SYNONYMOUS_CODING LOW SILENT 0.53954 0.53950 0.33524 None None None None None None DNAH11|0.38215847|21.9%
View 20163-01-01_s18-kopie 7 rs4722067
dbSNP Clinvar
21901566 7822.84 T C PASS 0/1 645 SYNONYMOUS_CODING LOW SILENT 0.63439 0.63440 0.24229 None None None None None None DNAH11|0.38215847|21.9%
View 20163-01-01_s18-kopie 7 rs12666072
dbSNP Clinvar
21901593 7106.95 G A PASS 0/1 642 SYNONYMOUS_CODING LOW SILENT 0.09385 0.09385 0.03360 None None None None None None DNAH11|0.38215847|21.9%
View 20163-01-01_s18-kopie 7 rs12536928
dbSNP Clinvar
21765452 13141.8 C T PASS 1/1 468 SYNONYMOUS_CODING LOW SILENT 0.36282 0.36280 0.43883 None None None None None None DNAH11|0.38215847|21.9%

DNAH5

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 20163-01-01_s18-kopie 5 rs3213936
dbSNP Clinvar
13913885 3725.18 A G PASS 0/1 374 SYNONYMOUS_CODING LOW SILENT 0.52875 0.52880 0.42965 None None None None None None DNAH5|0.235040337|32.91%
View 20163-01-01_s18-kopie 5 rs2401809
dbSNP Clinvar
13754394 9640.47 C T PASS 0/1 856 SYNONYMOUS_CODING LOW SILENT 0.32828 0.32830 0.35530 None None None None None None DNAH5|0.235040337|32.91%
View 20163-01-01_s18-kopie 5 rs6554812
dbSNP Clinvar
13762972 4763.24 T C PASS 0/1 466 SYNONYMOUS_CODING LOW SILENT 0.31030 0.31030 0.29779 None None None None None None DNAH5|0.235040337|32.91%
View 20163-01-01_s18-kopie 5 rs6554827
dbSNP Clinvar
13864728 4885.43 C A PASS 0/1 503 SYNONYMOUS_CODING LOW SILENT 0.39928 None None None None None None DNAH5|0.235040337|32.91%
View 20163-01-01_s18-kopie 5 rs30169
dbSNP Clinvar
13719022 19404.0 T G PASS 1/1 705 SYNONYMOUS_CODING LOW SILENT 0.41913 0.41910 0.41227 None None None None None None DNAH5|0.235040337|32.91%
View 20163-01-01_s18-kopie 5 rs3734111
dbSNP Clinvar
13701525 4172.04 T C PASS 1/1 141 SYNONYMOUS_CODING LOW SILENT 0.44768 0.44770 0.48601 None None None None None None DNAH5|0.235040337|32.91%
View 20163-01-01_s18-kopie 5 rs7703349
dbSNP Clinvar
13865980 4396.63 T C PASS 0/1 421 SYNONYMOUS_CODING LOW SILENT 0.46865 0.46870 0.49831 None None None None None None DNAH5|0.235040337|32.91%
View 20163-01-01_s18-kopie 5 rs1445823
dbSNP Clinvar
13900345 6329.01 A G PASS 0/1 546 SYNONYMOUS_CODING LOW SILENT 0.60124 0.60120 0.47786 None None None None None None DNAH5|0.235040337|32.91%

DNAH9

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 20163-01-01_s18-kopie 17 rs3744578
dbSNP Clinvar
11648332 10146.02 C T PASS 0/1 887 SYNONYMOUS_CODING LOW SILENT 0.77017 0.77020 0.26411 None None None None None None DNAH9|0.176098085|39.51%
View 20163-01-01_s18-kopie 17 rs8071438
dbSNP Clinvar
11583089 20105.93 T C PASS 1/1 703 SYNONYMOUS_CODING LOW SILENT 0.94788 0.94790 0.03168 None None None None None None DNAH9|0.176098085|39.51%
View 20163-01-01_s18-kopie 17 rs11078022
dbSNP Clinvar
11511457 3888.37 C T PASS 0/1 334 SYNONYMOUS_CODING LOW SILENT 0.44329 0.44330 0.34599 None None None None None None DNAH9|0.176098085|39.51%
View 20163-01-01_s18-kopie 17 rs9895535
dbSNP Clinvar
11532835 8928.64 A G PASS 0/1 854 SYNONYMOUS_CODING LOW SILENT 0.39277 0.39280 0.44149 None None None None None None DNAH9|0.176098085|39.51%
View 20163-01-01_s18-kopie 17 rs8070256
dbSNP Clinvar
11786951 6573.16 T C PASS 0/1 661 SYNONYMOUS_CODING LOW SILENT 0.38598 0.38600 0.40604 None None None None None None DNAH9|0.176098085|39.51%
View 20163-01-01_s18-kopie 17 rs117790039
dbSNP Clinvar
11725337 3153.43 C T PASS 0/1 329 SYNONYMOUS_CODING LOW SILENT 0.01717 0.01717 0.03060 None None None None None None DNAH9|0.176098085|39.51%

DNAJB13

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 20163-01-01_s18-kopie 11 rs653263
dbSNP Clinvar
73670645 8537.52 T C PASS 0/1 751 SYNONYMOUS_CODING LOW SILENT 0.60104 0.60100 0.42392 None None None None None None DNAJB13|0.167244914|40.62%
View 20163-01-01_s18-kopie 11 rs2306819
dbSNP Clinvar
73681090 5096.63 C T PASS 0/1 515 SYNONYMOUS_CODING LOW SILENT 0.25220 0.25220 0.27999 None None None None None None DNAJB13|0.167244914|40.62%

DRC1

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 20163-01-01_s18-kopie 2 rs1402962
dbSNP Clinvar
26676322 22254.4 A G PASS 1/1 788 SYNONYMOUS_CODING LOW SILENT 0.99441 0.99440 0.00469 None None None None None None DRC1|0.021378182|73.5%
View 20163-01-01_s18-kopie 2 rs7423300
dbSNP Clinvar
26647277 16594.66 T G PASS 1/1 564 SYNONYMOUS_CODING LOW SILENT 0.62340 0.62340 0.21429 None None None None None None DRC1|0.021378182|73.5%

EFCAB2

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 20163-01-01_s18-kopie 1 rs10927387
dbSNP Clinvar
245245402 2173.59 C T PASS 0/1 284 SYNONYMOUS_CODING LOW SILENT 0.28934 0.28930 0.34638 None None None None None None EFCAB2|0.09874582|51.4%

GAS8

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 20163-01-01_s18-kopie 16 rs3743825
dbSNP Clinvar
90109711 22772.53 A G PASS 1/1 788 SYNONYMOUS_CODING LOW SILENT 0.84425 0.84420 0.17082 None None None None None None GAS8|0.279441552|29.14%

HYDIN

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 20163-01-01_s18-kopie 16 rs1354550
dbSNP Clinvar
70908736 7380.27 A G PASS 0/1 637 SYNONYMOUS_CODING LOW SILENT None None None None None None HYDIN|0.080749251|55.02%
View 20163-01-01_s18-kopie 16 rs4788770
dbSNP Clinvar
71163693 3722.56 A G LowVariantFreq 0/1 1164 SYNONYMOUS_CODING LOW SILENT None None None None None None HYDIN|0.080749251|55.02%
View 20163-01-01_s18-kopie 16 rs929312
dbSNP Clinvar
71163606 2936.28 C T LowVariantFreq 0/1 1270 SYNONYMOUS_CODING LOW SILENT None None None None None None HYDIN|0.080749251|55.02%
View 20163-01-01_s18-kopie 16 rs929311
dbSNP Clinvar
71163579 9146.53 C T PASS 0/1 1045 SYNONYMOUS_CODING LOW SILENT None None None None None None HYDIN|0.080749251|55.02%
View 20163-01-01_s18-kopie 16 rs1398391
dbSNP Clinvar
71103269 15892.49 T C PASS 0/1 1402 SYNONYMOUS_CODING LOW SILENT None None None None None None HYDIN|0.080749251|55.02%
View 20163-01-01_s18-kopie 16 rs10735134
dbSNP Clinvar
71101270 5713.54 C T PASS 0/1 672 SYNONYMOUS_CODING LOW SILENT None None None None None None HYDIN|0.080749251|55.02%
View 20163-01-01_s18-kopie 16 rs2271453
dbSNP Clinvar
71094434 2165.21 G A LowVariantFreq 0/1 787 SYNONYMOUS_CODING LOW SILENT None None None None None None HYDIN|0.080749251|55.02%
View 20163-01-01_s18-kopie 16 rs704641
dbSNP Clinvar
71026098 622.03 C T LowVariantFreq 0/1 355 SYNONYMOUS_CODING LOW SILENT 0.00020 0.00020 None None None None None None HYDIN|0.080749251|55.02%
View 20163-01-01_s18-kopie 16 rs1774516
dbSNP Clinvar
71025245 9172.9 C T PASS 0/1 1105 SYNONYMOUS_CODING LOW SILENT None None None None None None HYDIN|0.080749251|55.02%
View 20163-01-01_s18-kopie 16 rs1774293
dbSNP Clinvar
71008169 6482.16 T C PASS 0/1 694 SYNONYMOUS_CODING LOW SILENT None None None None None None HYDIN|0.080749251|55.02%
View 20163-01-01_s18-kopie 16 rs1774266
dbSNP Clinvar
70993566 38409.78 A G PASS 1/1 1349 SYNONYMOUS_CODING LOW SILENT 0.43910 0.43910 None None None None None None HYDIN|0.080749251|55.02%
View 20163-01-01_s18-kopie 16 rs2458386
dbSNP Clinvar
70986480 16706.04 G A PASS 0/1 1408 SYNONYMOUS_CODING LOW SILENT None None None None None None HYDIN|0.080749251|55.02%
View 20163-01-01_s18-kopie 16 rs1798530
dbSNP Clinvar
70954809 14735.63 C A PASS 0/1 1330 SYNONYMOUS_CODING LOW SILENT None None None None None None HYDIN|0.080749251|55.02%
View 20163-01-01_s18-kopie 16 rs8045289
dbSNP Clinvar
70954572 9415.01 T A PASS 0/1 1236 SYNONYMOUS_CODING LOW SILENT None None None None None None HYDIN|0.080749251|55.02%
View 20163-01-01_s18-kopie 16 rs2502696
dbSNP Clinvar
70934994 8084.46 C T PASS 0/1 1614 SYNONYMOUS_CODING LOW SILENT None None None None None None HYDIN|0.080749251|55.02%
View 20163-01-01_s18-kopie 16 rs1774323
dbSNP Clinvar
70913386 19213.64 G A PASS 0/1 1497 SYNONYMOUS_CODING LOW SILENT None None None None None None HYDIN|0.080749251|55.02%
View 20163-01-01_s18-kopie 16 rs1774311
dbSNP Clinvar
70908239 4248.03 G A PASS 0/1 1190 SYNONYMOUS_CODING LOW SILENT None None None None None None HYDIN|0.080749251|55.02%
View 20163-01-01_s18-kopie 16 rs2502690
dbSNP Clinvar
70902683 9488.37 G A PASS 0/1 1127 SYNONYMOUS_CODING LOW SILENT None None None None None None HYDIN|0.080749251|55.02%
View 20163-01-01_s18-kopie 16 rs1774421
dbSNP Clinvar
70896118 16532.06 A G PASS 0/1 1451 SYNONYMOUS_CODING LOW SILENT None None None None None None HYDIN|0.080749251|55.02%
View 20163-01-01_s18-kopie 16 rs2502698
dbSNP Clinvar
70889147 8759.41 A G PASS 0/1 1012 SYNONYMOUS_CODING LOW SILENT None None None None None None HYDIN|0.080749251|55.02%
View 20163-01-01_s18-kopie 16 rs1798315
dbSNP Clinvar
70884534 13116.6 T A PASS 0/1 1156 SYNONYMOUS_CODING LOW SILENT None None None None None None HYDIN|0.080749251|55.02%

IQCA1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 20163-01-01_s18-kopie 2 rs35432941
dbSNP Clinvar
237374309 7841.22 C T PASS 0/1 568 SYNONYMOUS_CODING LOW SILENT 0.07428 0.07428 0.15534 None None None None None None IQCA1|0.01279185|78.65%

IQGAP3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 20163-01-01_s18-kopie 1 rs2066377
dbSNP Clinvar
156536221 14378.05 G C PASS 1/1 516 SYNONYMOUS_CODING LOW SILENT 0.95986 0.95990 0.04252 None None None None None None IQGAP3|0.099380714|51.29%
View 20163-01-01_s18-kopie 1 rs1171547
dbSNP Clinvar
156532977 22858.25 T C PASS 1/1 867 SYNONYMOUS_CODING LOW SILENT 0.95986 0.95990 0.04252 None None None None None None IQGAP3|0.099380714|51.29%
View 20163-01-01_s18-kopie 1 rs947662
dbSNP Clinvar
156536251 18324.76 T C PASS 1/1 693 SYNONYMOUS_CODING LOW SILENT 0.95986 0.95990 0.04252 None None None None None None IQGAP3|0.099380714|51.29%

KATNB1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 20163-01-01_s18-kopie 16 rs2965798
dbSNP Clinvar
57786711 7520.28 C T PASS 0/1 754 SYNONYMOUS_CODING LOW SILENT 0.43990 0.43990 0.45121 None None None None None None KATNB1|0.195202962|37.25%
View 20163-01-01_s18-kopie 16 rs12922275
dbSNP Clinvar
57787027 8338.12 C T PASS 0/1 797 SYNONYMOUS_CODING LOW SILENT 0.10064 0.10060 0.07462 None None None None None None KATNB1|0.195202962|37.25%

KIF27

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 20163-01-01_s18-kopie 9 rs295274
dbSNP Clinvar
86468715 6330.65 A T PASS 0/1 506 SYNONYMOUS_CODING LOW SILENT 0.65316 0.65320 0.30409 None None None None None None KIF27|0.224927023|33.89%

LRGUK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 20163-01-01_s18-kopie 7 rs1222419
dbSNP Clinvar
133868507 14026.47 C T PASS 1/1 517 SYNONYMOUS_CODING LOW SILENT 0.99321 0.99320 0.00815 None None None None None None LRGUK|0.024956796|71.82%

LRRC31

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 20163-01-01_s18-kopie 3 rs3732451
dbSNP Clinvar
169558025 9184.71 C T PASS 0/1 815 SYNONYMOUS_CODING LOW SILENT 0.55891 0.55890 0.41001 None None None None None None LRRC31|0.008370816|82.26%

LRRC48

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 20163-01-01_s18-kopie 17 rs4368210
dbSNP Clinvar
17896090 2872.31 C T PASS 0/1 385 SYNONYMOUS_CODING LOW SILENT 0.58187 0.58190 0.35384 None None None None None None LRRC48|0.058782797|60.21%,ATPAF2|0.133115662|45.43%

MCIDAS

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 20163-01-01_s18-kopie 5 rs6879219
dbSNP Clinvar
54516521 25446.96 G A PASS 1/1 918 SYNONYMOUS_CODING LOW SILENT 0.48842 0.48840 None None None None None None MCIDAS|0.058420563|60.28%

NME8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 20163-01-01_s18-kopie 7 rs41276027
dbSNP Clinvar
37934147 2345.98 A T PASS 0/1 265 SYNONYMOUS_CODING LOW SILENT 0.15775 0.15770 0.00377 None None None None None None EPDR1|0.032281464|68.48%,NME8|0.008591478|82.05%
View 20163-01-01_s18-kopie 7 rs62001868
dbSNP Clinvar
37916455 2606.28 A G PASS 0/1 247 SYNONYMOUS_CODING LOW SILENT 0.20068 0.20070 0.12487 None None None None None None EPDR1|0.032281464|68.48%,NME8|0.008591478|82.05%

PCDP1

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 20163-01-01_s18-kopie 2 rs10864986
dbSNP Clinvar
120369300 8140.36 T C PASS 1/1 292 SYNONYMOUS_CODING LOW SILENT 0.98383 0.98380 0.01392 None None None None None None None

PIH1D1

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 20163-01-01_s18-kopie 19 rs12443
dbSNP Clinvar
49950356 3511.31 C G PASS 0/1 448 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.67792 0.67790 0.20098 None None None None None None PIH1D1|0.036643548|66.93%

RSPH1

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 20163-01-01_s18-kopie 21 rs117797631
dbSNP Clinvar
43905830 8486.14 G A PASS 0/1 755 SYNONYMOUS_CODING LOW SILENT 0.00200 0.00200 0.00784 None None None None None None RSPH1|0.007033291|83.46%

RUVBL2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 20163-01-01_s18-kopie 19 rs1062708
dbSNP Clinvar
49513273 10874.83 C T PASS 0/1 931 SYNONYMOUS_CODING LOW SILENT 0.38938 0.38940 0.39606 None None None None None None RUVBL2|0.707533513|8.29%

SPAG1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 20163-01-01_s18-kopie 8 rs1788190
dbSNP Clinvar
101253184 5169.73 G A PASS 0/1 449 SYNONYMOUS_CODING LOW SILENT 0.29912 0.29910 0.27211 None None None None None None SPAG1|0.055472579|61.06%

SPAG17

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 20163-01-01_s18-kopie 1 rs10923477
dbSNP Clinvar
118583408 5263.58 G A PASS 1/1 185 SYNONYMOUS_CODING LOW SILENT 0.28854 0.28850 0.37037 None None None None None None SPAG17|0.037205443|66.71%
View 20163-01-01_s18-kopie 1 rs10754367
dbSNP Clinvar
118644430 13906.81 A G PASS 1/1 494 SYNONYMOUS_CODING LOW SILENT 0.56390 0.56390 0.39513 None None None None None None SPAG17|0.037205443|66.71%

SPEF2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 20163-01-01_s18-kopie 5 rs2270558
dbSNP Clinvar
35654711 9126.55 C T PASS 0/1 812 SYNONYMOUS_CODING LOW SILENT 0.67712 0.67710 0.40804 None None None None None None SPEF2|0.057634008|60.51%
View 20163-01-01_s18-kopie 5 rs7706444
dbSNP Clinvar
35644621 4080.67 T C PASS 0/1 385 SYNONYMOUS_CODING LOW SILENT 0.78415 0.78410 0.31537 None None None None None None SPEF2|0.057634008|60.51%
View 20163-01-01_s18-kopie 5 rs6451206
dbSNP Clinvar
35700598 1947.82 T C PASS 0/1 141 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.44050 0.44050 0.43885 None None None None None None SPEF2|0.057634008|60.51%

TCTE1

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 20163-01-01_s18-kopie 6 rs484757
dbSNP Clinvar
44247951 16920.26 T G PASS 1/1 598 SYNONYMOUS_CODING LOW SILENT 0.88359 0.88360 0.11987 None None None None None None TMEM151B|0.178433912|39.22%,TCTE1|0.063877506|58.93%
View 20163-01-01_s18-kopie 6 rs324143
dbSNP Clinvar
44253749 29266.21 A G PASS 1/1 1060 SYNONYMOUS_CODING LOW SILENT 0.87979 0.87980 0.12048 None None None None None None TMEM151B|0.178433912|39.22%,TCTE1|0.063877506|58.93%
View 20163-01-01_s18-kopie 6 rs516582
dbSNP Clinvar
44250165 32624.81 A G PASS 1/1 1145 SYNONYMOUS_CODING LOW SILENT 0.64157 0.64160 0.28487 None None None None None None TMEM151B|0.178433912|39.22%,TCTE1|0.063877506|58.93%

TTC40

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 20163-01-01_s18-kopie 10 rs2274429
dbSNP Clinvar
134624504 7282.16 C T PASS 0/1 711 SYNONYMOUS_CODING LOW SILENT 0.33107 0.33110 0.27080 None None None None None None CFAP46|0.002457988|89.78%
View 20163-01-01_s18-kopie 10 rs7075277
dbSNP Clinvar
134722022 5148.7 A G PASS 0/1 537 SYNONYMOUS_CODING LOW SILENT 0.58107 0.58110 None None None None None None CFAP46|0.002457988|89.78%
View 20163-01-01_s18-kopie 10 rs4880467
dbSNP Clinvar
134726621 12864.9 G C PASS 0/1 1019 SYNONYMOUS_CODING LOW SILENT 0.28654 0.28650 None None None None None None CFAP46|0.002457988|89.78%
View 20163-01-01_s18-kopie 10 rs2767434
dbSNP Clinvar
134622408 6664.99 T C PASS 0/1 610 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.74261 0.74260 0.24688 None None None None None None CFAP46|0.002457988|89.78%
View 20163-01-01_s18-kopie 10 rs7908950
dbSNP Clinvar
134682855 9810.11 C T PASS 0/1 861 SYNONYMOUS_CODING LOW SILENT 0.31310 0.31310 None None None None None None CFAP46|0.002457988|89.78%