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

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 22
Number of Genes: 1

Export to: CSV

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 rs143615549
dbSNP
46307995 11919.36 C T,... PASS 3/3 6 FRAME_SHIFT HIGH 0.00040 0.00040 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 46307999 12476.92 C T,... PASS 3/3 6 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 18 . 55463973 3248.7 TG... TG... PASS 3/3 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 78433939 15871.55 AG... A,... PASS 3/3 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 75262006 32166.74 C G,T,* PASS 3/3 59 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 75262005 32057.7 GC CC... PASS 3/3 59 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 61402971 32910.76 AA... AG... PASS 3/3 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 61402930 49747.71 T G,... PASS 3/3 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 4955850 30713.88 CC... C,... PASS 3/3 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 57380420 2170.74 CA AA... PASS 3/3 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 39918769 5309.45 AC... AA... PASS 3/3 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 52796469 9199.09 AT... AT... PASS 3/3 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 172203200 1930.34 CA... CC... PASS 3/3 27 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 157052557 623496.93 C CG... PASS 3/3 98 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 56928955 10684.93 ACTCT A,... PASS 3/3 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 1739807 12241.76 CG... TG... PASS 3/3 18 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 232847517 25520.73 A G,... PASS 3/3 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 160016479 28086.51 GT G,... PASS 3/3 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 6861128 24548.02 C CA... PASS 3/3 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 44715260 1733.74 TG... TG... PASS 3/3 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 247419161 1155.06 TATA T,... PASS 3/3 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 15162773 3983.11 TTG GT... PASS 3/3 11 None None None None None None None None None None