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GENE LIST:
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CHR:

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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

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 16
Number of Genes: 1

Export to: CSV
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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 sp16_multisample SP16_961 14 rs1132644
dbSNP Clinvar
20784718 535.9 G T PASS 0/1 83 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%
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 sp16_multisample SP16_961 7 rs3857756
dbSNP Clinvar
5800769 1073.26 A G PASS 1/1 79 SPLICE_SITE_REGION LOW None 0.96486 0.96490 None None None None None None RNF216|0.202241405|36.49%
View sp16_multisample SP16_961 17 rs9904043
dbSNP Clinvar
27000391 1171.41 A G PASS 1/1 94 SPLICE_SITE_REGION LOW None 0.77197 0.77200 0.25665 None None None None None None SUPT6H|0.667925783|9.44%
View sp16_multisample SP16_961 19 . 15060983 155.55 TG... TG... PASS 1/2 31 SPLICE_SITE_REGION LOW None None None None None None None SLC1A6|0.083889024|54.45%
View sp16_multisample SP16_961 19 . 19010372 19.45 T G PASS 0/1 37 SPLICE_SITE_REGION LOW None None None None None None None COPE|0.199133085|36.81%
View sp16_multisample SP16_961 19 rs2659093
dbSNP Clinvar
51456005 227.37 T G PASS 1/1 25 SPLICE_SITE_REGION LOW None 0.50280 0.50280 None None None None None None KLK5|0.00235022|90.05%
View sp16_multisample SP16_961 3 rs9831075
dbSNP Clinvar
25836023 1171.2 C T PASS 1/1 105 SPLICE_SITE_REGION LOW None 0.74101 0.74100 0.23543 None None None None None None OXSM|0.120851922|47.31%
View sp16_multisample SP16_961 4 rs1757935
dbSNP Clinvar
130023759 273.06 A T PASS 1/1 27 SPLICE_SITE_REGION LOW None 0.68271 0.68270 0.31301 None None None None None None C4orf33|0.075968961|56.1%
View sp16_multisample SP16_961 4 rs2070951
dbSNP Clinvar
149358014 441.54 G C PASS 1/1 44 SPLICE_SITE_REGION LOW None 0.50080 0.50080 0.39743 None None None None None None NR3C2|0.850524024|4.63%
View sp16_multisample SP16_961 11 rs497681
dbSNP Clinvar
6807243 481.43 G A PASS 1/1 49 SPLICE_SITE_REGION LOW None 0.56590 0.56590 0.42089 None None None None None None OR2AG1|0.031854216|68.67%
View sp16_multisample SP16_961 11 rs3741245
dbSNP Clinvar
62105441 147.73 T C PASS 0/1 28 SPLICE_SITE_REGION LOW None 0.28255 0.28250 0.25620 None None None None None None ASRGL1|0.018656675|74.89%
View sp16_multisample SP16_961 19 rs3848623
dbSNP Clinvar
39522891 104.56 T C PASS 0/1 59 SPLICE_SITE_REGION LOW None 0.42752 0.42750 None None None None None None FBXO27|0.001898899|91.25%
View sp16_multisample SP16_961 22 rs737868
dbSNP Clinvar
19747082 268.26 G C PASS 1/1 50 SPLICE_SITE_REGION LOW None 0.62141 0.62140 None None None None None None TBX1|0.837458407|4.92%
View sp16_multisample SP16_961 10 rs11597439
dbSNP Clinvar
104184953 73.22 C G PASS 0/1 27 SPLICE_SITE_REGION LOW None 0.28435 0.28430 0.27606 None None None None None None CUEDC2|0.159087985|41.71%
View sp16_multisample SP16_961 11 rs1263505
dbSNP Clinvar
77811990 861.49 T C PASS 1/1 112 SPLICE_SITE_REGION LOW None 0.83267 0.83270 0.11961 None None None None None None ALG8|0.271828489|29.77%
View sp16_multisample SP16_961 X rs41311513
dbSNP Clinvar
16669123 208.31 C T PASS 1/1 23 SPLICE_SITE_REGION LOW None 0.08609 0.08609 0.02585 None None None None None None CTPS2|0.247337379|31.79%,S100G|0.053533894|61.61%
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