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:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
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
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes at Omim

SKIV2L, SLC9A3,
SKIV2L Trichohepatoenteric syndrome 2, 614602 (3)
SLC9A3 Diarrhea 8, secretory sodium, congenital, 616868 (3)

Genes at Clinical Genomics Database

SKIV2L,
SKIV2L Trichohepatoenteric syndrome 2

Genes at HGMD

Summary

Number of Variants: 467
Number of Genes: 11

Export to: CSV

ADCY2

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 23 recalibrated filtered postcgp gqfiltered 5 . 7757592 67605.05 T C,* PASS 0/2 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 7757602 64107.18 C T,* PASS 0/2 21 SYNONYMOUS_CODING LOW None None None None None None None

ARVCF

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 23 recalibrated filtered postcgp gqfiltered 22 . 19967393 164.28 AT A,ATT PASS 0/2 30 FRAME_SHIFT HIGH None None None None None None None

BAIAP3

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 23 recalibrated filtered postcgp gqfiltered 16 . 1397277 788.53 A G,* PASS 0/2 75 None None None None None None None None None None

CDCP2

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 23 recalibrated filtered postcgp gqfiltered 1 . 54610482 5846.58 G A,* PASS 0/2 50 SYNONYMOUS_CODING LOW SILENT None None None None None None None

DUSP8

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 23 recalibrated filtered postcgp gqfiltered 11 . 1585171 6737.31 C T,* PASS 0/2 17 SYNONYMOUS_CODING LOW SILENT 0.33 None None None None None None None

LRRC10B

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 23 recalibrated filtered postcgp gqfiltered 11 . 61276549 616.84 TAA T,TA PASS 0/2 4 FRAME_SHIFT HIGH None None None None None None None

PDLIM7

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 23 recalibrated filtered postcgp gqfiltered 5 . 176911167 13177.06 AA... A,* PASS 0/2 45 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 176911162 12361.73 AA... A,* PASS 0/2 45 FRAME_SHIFT HIGH None None None None None None None

RSPH6A

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 23 recalibrated filtered postcgp gqfiltered 19 . 46308007 5898.41 T C,* PASS 0/2 6 SYNONYMOUS_CODING LOW None None None None None None None

SKIV2L

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 23 recalibrated filtered postcgp gqfiltered 6 . 31937207 8451.91 A T,* PASS 0/2 4 None None None None None None None None None None

SLC9A3

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 23 recalibrated filtered postcgp gqfiltered 5 . 475231 16249.21 A T,* PASS 0/2 27 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ZMIZ2

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 23 recalibrated filtered postcgp gqfiltered 7 . 44801186 7728.62 TAA T,... PASS 0/2 21 FRAME_SHIFT HIGH 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 23 recalibrated filtered postcgp gqfiltered X . 624387 287.08 T TT... PASS 0/2 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 44862611 28954.93 GTATA G,* PASS 0/2 62 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 44859653 6758.11 C T,* PASS 0/2 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 44808641 3419.98 T TA,* PASS 0/2 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 32149654 222.54 T A,* PASS 0/2 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 32149652 313.12 T A,* PASS 0/2 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 31945683 387.92 A G,* PASS 0/2 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 39240943 10696.54 T A,* PASS 0/2 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 24755924 56661.72 A C,* PASS 0/2 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 17592800 1758.77 CTTT CT... PASS 0/2 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 44637708 124431.7 TG... T,* PASS 0/2 150 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 39274304 32868.6 CGAGA CG... PASS 0/2 32 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 33288406 3198.6 G C,* PASS 0/2 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 33026785 1007.45 C G,* PASS 0/2 31 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 28931068 13908.52 T G,* PASS 0/2 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 43970868 2897.98 TA T,TAA PASS 0/2 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 rs565604711
dbSNP
10473378 65122.75 G A,T PASS 0/2 391 None None None 0.00080 0.00080 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 10718371 1695.69 CA... C,* PASS 0/2 36 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 10569528 34323.49 AG A,* PASS 0/2 49 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 46600423 1542.71 AAAGG A,* PASS 0/2 21 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 45842010 1815.26 T C,* PASS 0/2 34 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 45842009 1857.06 CTT C,... PASS 0/2 34 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 10644278 8318.6 A T,* PASS 0/2 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 58279887 307.62 TA T,* PASS 0/2 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 56774546 2390.43 CT C,CTT PASS 0/2 27 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 54099814 3206.97 T G,* VQSRTrancheSNP99.90to100.00 0/2 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 54099813 3951.54 CTT C,... PASS 0/2 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 53698556 2608.44 GT G,... PASS 0/2 24 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 51642505 225.58 GA G,GAA PASS 0/2 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 47413397 133.92 CAA C,CA PASS 0/2 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 48390581 475.29 C G,* PASS 0/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 48390579 485.49 GAC G,* PASS 0/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 46755190 344.71 TAA T,TA PASS 0/2 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 40667993 4831.73 TT... T,* PASS 0/2 32 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 38736488 4060.19 G T,* VQSRTrancheSNP99.90to100.00 0/2 37 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 35511477 4796.38 GC... G,* PASS 0/2 24 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 35511468 4567.12 AC... A,* PASS 0/2 24 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 35408826 168.43 G T,* PASS 0/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 35123368 35926.28 ATG A,GTG PASS 0/2 43 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 17778038 3444.03 CA C,... PASS 0/2 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 35511503 4202.94 T C,* PASS 0/2 24 None None None -2.34 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 35511485 3711.12 TG... T,* PASS 0/2 24 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 35511478 8799.67 C CTG,* PASS 0/2 24 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 21310477 12848.62 A T,* PASS 0/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 17342751 461.82 A T,* PASS 0/2 31 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 17219126 2265.54 CAA C,... PASS 0/2 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 18197803 9269.61 A C,* PASS 0/2 2 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 15162794 1402.5 C T,* PASS 0/2 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 15162792 1284.26 TGC T,* PASS 0/2 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 15162790 1269.28 TGTGC T,* PASS 0/2 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 15162786 183.1 TG... T,* PASS 0/2 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 16895903 210.34 GCA G,... PASS 0/2 21 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 11147931 3684.33 G A,* VQSRTrancheSNP99.90to100.00 0/2 63 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 10553575 318.86 AT A,... PASS 0/2 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 8046728 733.3 CCA C,* PASS 0/2 21 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 8046724 732.73 CT C,* PASS 0/2 21 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 7470516 264.27 CT C,... PASS 0/2 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 8969688 5571.28 AAAG A,* PASS 0/2 28 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 8969681 8312.81 GA... GA... PASS 0/2 28 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 8969671 7161.32 GA... GA... PASS 0/2 28 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 7639937 5098.12 T C,* PASS 0/2 5 None None None -0.23 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 2933075 346.85 C A,* PASS 0/2 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1043938 2245.51 T C,* PASS 0/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs113358902
dbSNP
694650 3078.69 T C,* VQSRTrancheSNP99.90to100.00 0/2 1 None None None 0.10503 0.10500 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 79348253 20358.06 A G,* PASS 0/2 12 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 79348252 41075.51 A G,* VQSRTrancheSNP99.90to100.00 0/2 12 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 79348249 46142.57 A G,* VQSRTrancheSNP99.90to100.00 0/2 12 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 3964460 1001.07 CG C,* PASS 0/2 37 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 3964450 1176.85 T C,* PASS 0/2 37 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs758458962
dbSNP
3964439 499.45 AA... A,* PASS 0/2 37 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 62072729 4665.0 TA T,... PASS 0/2 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs28992476
dbSNP
580841 2862.45 C T,* PASS 0/2 38 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 371367 722.18 GG... GGT,* PASS 0/2 17 None None None 0.00579 0.00579 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 31338242 13415.6 C A,* PASS 0/2 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 26286620 12315.77 ATT A,... PASS 0/2 27 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 11609426 2607.95 G A,* VQSRTrancheSNP99.90to100.00 0/2 10 None None None 0.41154 0.41150 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 11609424 2551.75 AA... AA... PASS 0/2 10 None None None 0.41154 0.41150 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 80111142 8448.6 C T,* PASS 0/2 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 74250247 14157.26 G T,* PASS 0/2 56 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 72849810 9620.4 CAAA C,... PASS 0/2 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 71338855 813.71 CC... C,* PASS 0/2 10 MOTIF[MA0139.1:CTCF] LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 71338843 752.98 TC... T,* PASS 0/2 10 MOTIF[MA0139.1:CTCF] LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 61404805 4563.48 C G,* PASS 0/2 57 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 47829296 532.07 AAGAG A,... PASS 0/2 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 42969194 1063.48 C G,* PASS 0/2 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 42969190 1193.07 GGGGC G,* PASS 0/2 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 42793856 339.08 CT C,CTT PASS 0/2 20 None None None None None None None None None None