SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

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OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
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

ALDH3A2,
ALDH3A2 Sjogren-Larsson syndrome, 270200 (3)

Genes at Clinical Genomics Database

ALDH3A2,
ALDH3A2 Sjogren-Larsson syndrome

Genes at HGMD

Summary

Number of Variants: 46
Number of Genes: 6

Export to: CSV

ALDH3A2

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 hp37_1_filt_10x 17 rs7216
dbSNP
19578873 2325.77 A T PASS 1/1 92 SPLICE_SITE_REGION LOW 0.67851 0.67850 0.44933 None None None None None None None

CCDC74B

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 hp37_1_filt_10x 2 rs2292302,rs60152285
dbSNP
130902194 423.77 C T PASS 1/1 21 SPLICE_SITE_REGION LOW 0.44369 0.44370 0.16 0.63 None None None None None None None

CCNB1IP1

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 hp37_1_filt_10x 14 rs1132644
dbSNP
20784718 157.77 G T PASS 0/1 36 SPLICE_SITE_REGION LOW 0.59565 0.59560 0.42880 0.06 0.00 None None None None None None None

RARRES2

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 hp37_1_filt_10x 7 rs4721
dbSNP
150035526 267.8 T G PASS 1/1 13 SPLICE_SITE_REGION LOW 0.47863 0.47860 0.52 0.00 None None None None None None None

TLR8

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 hp37_1_filt_10x X rs3764880
dbSNP
12924826 533.18 A G PASS 1/1 26 SPLICE_SITE_REGION LOW 0.46384 0.46380 0.25343 0.32 0.00 None None None None None None None

TNS3

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 hp37_1_filt_10x 7 rs11763044
dbSNP
47481602 334.77 G A PASS 0/1 39 SPLICE_SITE_REGION LOW 0.34944 0.34940 0.04 0.61 None None None None None None None
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 hp37_1_filt_10x 17 rs9904043
dbSNP
27000391 396.77 A G PASS 1/1 17 SPLICE_SITE_REGION LOW 0.77197 0.77200 0.25665 None None None None None None None
View hp37_1_filt_10x 15 rs78192020
dbSNP
91426687 129.77 G C PASS 0/1 19 SPLICE_SITE_REGION LOW 0.04772 0.04772 None None None None None None None
View hp37_1_filt_10x 15 rs1107179
dbSNP
85198362 265.77 G T PASS 0/1 22 SPLICE_SITE_REGION LOW 0.72664 0.72660 None None None None None None None
View hp37_1_filt_10x 14 rs3815500
dbSNP
73404680 841.77 A C PASS 1/1 33 SPLICE_SITE_REGION LOW 0.23802 0.23800 0.15601 None None None None None None None
View hp37_1_filt_10x 14 rs1138345
dbSNP
56078739 592.77 T G PASS 0/1 77 SPLICE_SITE_REGION LOW 0.25939 0.25940 0.26706 None None None None None None None
View hp37_1_filt_10x 14 rs698028
dbSNP
62120575 235.77 C T PASS 0/1 14 SPLICE_SITE_REGION LOW 0.51418 0.51420 None None None None None None None
View hp37_1_filt_10x 12 rs79407997
dbSNP
11174219 256.77 C A PASS 0/1 80 SPLICE_SITE_REGION LOW None None None None None None None
View hp37_1_filt_10x 12 . 6879662 78.77 T G PASS 0/1 16 SPLICE_SITE_REGION LOW None None None None None None None
View hp37_1_filt_10x 12 rs534119968
dbSNP
286499 70.77 C A PASS 0/1 31 SPLICE_SITE_REGION LOW 0.26737 0.26740 None None None None None None None
View hp37_1_filt_10x 12 rs566469211
dbSNP
286498 71.77 T A PASS 0/1 31 SPLICE_SITE_REGION LOW 0.26737 0.26740 None None None None None None None
View hp37_1_filt_10x 11 rs1263505
dbSNP
77811990 1709.77 T C PASS 1/1 67 SPLICE_SITE_REGION LOW 0.83267 0.83270 0.11961 None None None None None None None
View hp37_1_filt_10x 11 rs72851375
dbSNP
7686332 96.77 G A PASS 0/1 17 SPLICE_SITE_REGION LOW 0.23562 0.23560 None None None None None None None
View hp37_1_filt_10x 11 rs72851374
dbSNP
7686331 103.77 T A PASS 0/1 17 SPLICE_SITE_REGION LOW 0.23522 0.23520 None None None None None None None
View hp37_1_filt_10x 11 rs497681
dbSNP
6807243 230.77 G A PASS 0/1 21 SPLICE_SITE_REGION LOW 0.56590 0.56590 0.42089 None None None None None None None
View hp37_1_filt_10x 11 rs1567921
dbSNP
3663409 87.77 T C PASS 0/1 16 SPLICE_SITE_REGION LOW 0.40196 0.40200 None None None None None None None
View hp37_1_filt_10x 10 rs11597439
dbSNP
104184953 260.77 C G PASS 0/1 24 SPLICE_SITE_REGION LOW 0.28435 0.28430 0.27606 None None None None None None None
View hp37_1_filt_10x 10 rs1459996
dbSNP
61007534 537.77 A G PASS 0/1 48 SPLICE_SITE_REGION LOW 0.73522 0.73520 0.26865 None None None None None None None
View hp37_1_filt_10x 9 rs11351544,rs869176409,rs796916095
dbSNP
97365414 61.73 CT C PASS 0/1 15 SPLICE_SITE_REGION LOW 0.48662 0.48660 None None None None None None None
View hp37_1_filt_10x 7 rs7780056
dbSNP
97613998 533.77 T A PASS 0/1 43 SPLICE_SITE_REGION LOW 0.29533 0.29530 None None None None None None None
View hp37_1_filt_10x 7 rs3857756
dbSNP
5800769 1344.77 A G PASS 1/1 55 SPLICE_SITE_REGION LOW 0.96486 0.96490 None None None None None None None
View hp37_1_filt_10x 6 rs343705
dbSNP
80624530 382.77 A T PASS 1/1 15 SPLICE_SITE_REGION LOW 0.36522 0.36520 None None None None None None None
View hp37_1_filt_10x 6 rs9394693
dbSNP
40400868 217.77 C T PASS 0/1 26 SPLICE_SITE_REGION LOW 0.13898 0.13900 0.08193 None None None None None None None
View hp37_1_filt_10x 6 rs9368958
dbSNP
36708556 376.77 C G PASS 0/1 24 SPLICE_SITE_REGION LOW 0.17672 0.17670 None None None None None None None
View hp37_1_filt_10x 5 rs76296175
dbSNP
54526980 812.77 T C PASS 1/1 33 SPLICE_SITE_REGION LOW 0.02776 0.02776 None None None None None None None
View hp37_1_filt_10x 4 rs67505753
dbSNP
184560790 693.77 G A PASS 0/1 58 SPLICE_SITE_REGION LOW 0.30591 0.30590 None None None None None None None
View hp37_1_filt_10x 4 rs2070951
dbSNP
149358014 261.77 G C PASS 0/1 26 SPLICE_SITE_REGION LOW 0.50080 0.50080 0.39743 None None None None None None None
View hp37_1_filt_10x 4 rs1757935
dbSNP
130023759 1470.77 A T PASS 1/1 57 SPLICE_SITE_REGION LOW 0.68271 0.68270 0.31301 None None None None None None None
View hp37_1_filt_10x 3 rs543490335,rs112773801
dbSNP
71008341 445.73 G GT PASS 0/1 36 SPLICE_SITE_REGION LOW 0.31969 0.31970 None None None None None None None
View hp37_1_filt_10x 3 rs9831075
dbSNP
25836023 532.77 C T PASS 0/1 48 SPLICE_SITE_REGION LOW 0.74101 0.74100 0.23543 None None None None None None None
View hp37_1_filt_10x 1 rs4244184
dbSNP
248486895 563.77 G T PASS 0/1 62 SPLICE_SITE_REGION LOW 0.82528 0.82530 0.22135 None None None None None None None
View hp37_1_filt_10x 1 rs10802457
dbSNP
247148627 93.77 T G PASS 0/1 10 SPLICE_SITE_REGION LOW 0.58926 0.58930 None None None None None None None
View hp37_1_filt_10x 1 rs1217397
dbSNP
114447565 373.77 G A PASS 0/1 28 SPLICE_SITE_REGION LOW 0.32947 0.32950 None None None None None None None
View hp37_1_filt_10x 1 rs9326115
dbSNP
75036783 832.77 T C PASS 1/1 34 SPLICE_SITE_REGION LOW 0.97504 0.97500 0.02768 None None None None None None None
View hp37_1_filt_10x X rs35294981
dbSNP
1501563 265.73 A AT PASS 1/1 15 SPLICE_SITE_REGION LOW 0.42550 None None None None None None None
View hp37_1_filt_10x 1 rs6697410
dbSNP
26756209 1377.77 G T PASS 1/1 59 SPLICE_SITE_REGION LOW 0.83007 0.83010 None None None None None None None
View hp37_1_filt_10x X rs41311513
dbSNP
16669123 548.77 C T PASS 1/1 22 SPLICE_SITE_REGION LOW 0.08609 0.08609 0.02585 None None None None None None None
View hp37_1_filt_10x 22 rs737868
dbSNP
19747082 73.77 G C PASS 0/1 13 SPLICE_SITE_REGION LOW 0.62141 0.62140 None None None None None None None
View hp37_1_filt_10x 20 rs6128402
dbSNP
57266781 232.77 C T PASS 0/1 23 SPLICE_SITE_REGION LOW 0.29732 0.29730 None None None None None None None
View hp37_1_filt_10x 18 rs5825508
dbSNP
60794267 155.73 AT A PASS 0/1 23 SPLICE_SITE_REGION LOW 0.16993 0.16990 None None None None None None None
View hp37_1_filt_10x 17 rs12949907
dbSNP
27224799 257.77 T C PASS 0/1 17 SPLICE_SITE_REGION LOW 0.20308 0.20310 None None None None None None None