SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

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GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

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OMIM:
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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: 17
Number of Genes: 3

Export to: CSV
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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 045_tsvc_variants 17 rs7216
dbSNP Clinvar
19578873 97.93 A T PASS 0/1 34 SPLICE_SITE_REGION LOW None 0.67851 0.67850 0.44933 None None None None None None ALDH3A2|0.089181599|53.41%

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 045_tsvc_variants 14 rs1132644
dbSNP Clinvar
20784718 844.49 G T PASS 1/1 88 SPLICE_SITE_REGION LOW None 0.59565 0.59560 0.42880 0.06 0.00 None None None None None None CCNB1IP1|0.349909331|24.13%

ZNF410

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 045_tsvc_variants 14 rs1127392
dbSNP Clinvar
74388908 327.65 T C PASS 1/1 35 SPLICE_SITE_REGION LOW None 0.22804 0.22800 0.34015 None None None None None None ZNF410|0.342720036|24.64%
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 045_tsvc_variants 11 rs3741245
dbSNP Clinvar
62105441 717.28 T C PASS 1/1 74 SPLICE_SITE_REGION LOW None 0.28255 0.28250 0.25620 None None None None None None ASRGL1|0.018656675|74.89%
View 045_tsvc_variants 17 rs9904043
dbSNP Clinvar
27000391 1258.2 A G PASS 1/1 132 SPLICE_SITE_REGION LOW None 0.77197 0.77200 0.25665 None None None None None None SUPT6H|0.667925783|9.44%
View 045_tsvc_variants 19 rs149426594
dbSNP Clinvar
15235879 138.4 A G PASS 0/1 59 SPLICE_SITE_REGION LOW None 0.00619 0.00619 0.01166 None None None None None None ILVBL|0.048066594|63.31%
View 045_tsvc_variants 4 rs1757935
dbSNP Clinvar
130023759 497.47 A T PASS 1/1 53 SPLICE_SITE_REGION LOW None 0.68271 0.68270 0.31301 None None None None None None C4orf33|0.075968961|56.1%
View 045_tsvc_variants 22 rs737868
dbSNP Clinvar
19747082 41.31 G C PASS 0/1 21 SPLICE_SITE_REGION LOW None 0.62141 0.62140 None None None None None None TBX1|0.837458407|4.92%
View 045_tsvc_variants 4 rs2070951
dbSNP Clinvar
149358014 640.01 G C PASS 1/1 66 SPLICE_SITE_REGION LOW None 0.50080 0.50080 0.39743 None None None None None None NR3C2|0.850524024|4.63%
View 045_tsvc_variants 3 rs9831075
dbSNP Clinvar
25836023 865.18 C T PASS 1/1 91 SPLICE_SITE_REGION LOW None 0.74101 0.74100 0.23543 None None None None None None OXSM|0.120851922|47.31%
View 045_tsvc_variants 7 rs3857756
dbSNP Clinvar
5800769 584.24 A G PASS 1/1 62 SPLICE_SITE_REGION LOW None 0.96486 0.96490 None None None None None None RNF216|0.202241405|36.49%
View 045_tsvc_variants 19 rs3848623
dbSNP Clinvar
39522891 398.98 T C PASS 0/1 183 SPLICE_SITE_REGION LOW None 0.42752 0.42750 None None None None None None FBXO27|0.001898899|91.25%
View 045_tsvc_variants 6 rs9394693
dbSNP Clinvar
40400868 153.08 C T PASS 0/1 79 SPLICE_SITE_REGION LOW None 0.13898 0.13900 0.08193 None None None None None None LRFN2|0.297221276|27.86%
View 045_tsvc_variants 11 rs497681
dbSNP Clinvar
6807243 204.49 G A PASS 0/1 57 SPLICE_SITE_REGION LOW None 0.56590 0.56590 0.42089 None None None None None None OR2AG1|0.031854216|68.67%
View 045_tsvc_variants 11 rs1263505
dbSNP Clinvar
77811990 1230.36 T C PASS 1/1 132 SPLICE_SITE_REGION LOW None 0.83267 0.83270 0.11961 None None None None None None ALG8|0.271828489|29.77%
View 045_tsvc_variants 14 rs3815500
dbSNP Clinvar
73404680 262.93 A C PASS 0/1 120 SPLICE_SITE_REGION LOW None 0.23802 0.23800 0.15601 None None None None None None DCAF4|0.051038025|62.35%
View 045_tsvc_variants 19 rs10425010
dbSNP Clinvar
36673198 127.82 G C PASS 0/1 52 SPLICE_SITE_REGION LOW None 0.07368 0.07368 None None None None None None ZNF565|0.01802398|75.27%
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