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

CRYAA, DYRK1A, TMPRSS3,
CRYAA Cataract 9, multiple types, 604219 (3)
DYRK1A Mental retardation, autosomal dominant 7, 614104 (3)
TMPRSS3 Deafness, autosomal recessive 8/10, 601072 (3)

Genes at Clinical Genomics Database

CRYAA, DYRK1A, TMPRSS3,
CRYAA Cataract 9, multiple types
DYRK1A Mental retardation, autosomal dominant 7
TMPRSS3 Deafness, autosomal recessive 8
Deafness, autosomal recessive 10

Genes at HGMD

Summary

Number of Variants: 1727
Number of Genes: 15

Export to: CSV

AP001631.10

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 21 . 44579876 154635.31 G C PASS 1/1 52 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 1.00 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 44579526 12372.9 A C PASS 1/1 21 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 44579776 102255.94 G C PASS 1/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.94 None None None None None None None

CLIC6

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 21 . 36041896 4088.5 C CA... PASS 0/1 12 FRAME_SHIFT HIGH None None None None None None None

CRYAA

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 21 . 44592359 16591.64 A G VQSRTrancheSNP99.90to100.00 1/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.49 None None None None None None None

DSCAM

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 21 . 41427713 4054.53 A AC PASS 1/1 97 FRAME_SHIFT HIGH None None None None None None None

DYRK1A

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 21 . 38878437 26892.01 T TA... PASS 0/1 12 FRAME_SHIFT HIGH None None None None None None None

IFNAR1

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 21 . 34707906 91925.4 A G PASS 1/1 15 SYNONYMOUS_CODING LOW None None None None None None None

KRTAP10-12

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 21 . 46117752 6383.2 T TG PASS 1/1 16 FRAME_SHIFT HIGH None None None None None None None

KRTAP10-4

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 21 . 45994015 5023.4 G T PASS 0/1 95 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.00 None None None None None None None

KRTAP10-5

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 21 . 45999783 10577.14 C T PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None

NDUFV3

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 21 . 44323711 13389.95 C T PASS 0/1 45 STOP_GAINED HIGH NONSENSE None None None None None None None

PTTG1IP

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 21 . 46285323 37396.86 T C PASS 1/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

TMPRSS3

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 21 . 43804099 8321.02 AG A PASS 1/1 205 FRAME_SHIFT HIGH None None None None None None None

TRAPPC10

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 21 . 45494348 1139.38 C T PASS 0/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 45507808 25.14 C T PASS 0/1 4 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00 0.56 None None None None None None None

TTC3

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 21 . 38498386 84754.77 G A PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26 0.02 None None None None None None None

UBE2G2

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 21 . 46191371 5365.54 T C PASS 1/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46194639 10333.92 G A PASS 1/1 70 None None None 6.73 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 21 . 46558408 18141.5 G GC PASS 1/1 95 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46554475 5835.99 C G PASS 0/1 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46551626 44074.66 G A PASS 0/1 37 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46550301 3599.08 A G PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46546103 2152.74 C G PASS 1/1 22 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46532015 457.76 A G PASS 0/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46511332 5064.79 A G PASS 1/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46497134 34596.41 CT C PASS 1/1 38 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46484656 2877.48 G A PASS 1/1 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46444543 5861.27 G A PASS 1/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46442711 14785.57 A G PASS 1/1 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46440728 32017.54 G GC PASS 1/1 39 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46431839 49793.62 A G PASS 1/1 101 None None None -1.28 None None rs2073376 2 not_specified 2 None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46430717 5384.9 C T PASS 1/1 196 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46430570 6957.91 G C PASS 1/1 90 None None None 2.28 None None rs2070426 2 not_specified 2 None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46430491 7531.65 C T PASS 1/1 61 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46427938 19883.46 T C PASS 1/1 226 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46426078 6238.85 T C PASS 1/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46416836 3613.41 T C PASS 1/1 35 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46416489 15240.36 T C PASS 1/1 94 None None None 1.61 None None rs34151633 2 not_specified 1 None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46411595 22435.18 A G PASS 1/1 126 None None None -1.80 None None rs35940413 2|2 not_specified|not_provided 2|1 None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46397039 2688.75 G A PASS 1/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46388857 3843.38 G A PASS 1/1 50 None None None 0.74 None None rs35044802 2 not_specified 1 None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46367087 141469.31 T C PASS 1/1 275 None None None -1.78 None None rs6518289 2 not_specified 1 None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46366902 293631.31 C G PASS 1/1 79 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46366579 107554.98 C T PASS 1/1 90 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46366534 96800.19 T A,G PASS 1/1 58 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46364145 6188.57 T C PASS 1/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46363881 212055.08 T C PASS 1/1 105 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46357307 48559.03 A G PASS 1/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46357148 157352.31 G A PASS 1/1 59 None None None 0.08 None None rs2839223 2 not_specified 1 None
View 23 recalibrated filtered postcgp gqfiltered 21 rs114362859
dbSNP
46346240 4039.37 C T PASS 1/1 33 None None None 0.01617 0.01617 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46346225 40177.09 T C PASS 1/1 45 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46334649 10235.36 A G PASS 1/1 90 None None None -3.00 None None rs61735822 2|2 not_provided|not_specified 1|1 None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46334627 8008.36 A G PASS 1/1 66 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46324123 4733.6 CG C PASS 1/1 46 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46301747 1386.16 T C PASS 1/1 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46301154 2201.27 A AT PASS 1/1 50 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46297702 4569.27 G A PASS 1/1 91 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46295949 2545.49 G A PASS 1/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46292257 1216.34 G A PASS 1/1 46 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46292098 298.4 C G PASS 1/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46292070 269.06 C T PASS 1/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46291315 50037.61 A G PASS 1/1 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46286621 1542.78 C A PASS 1/1 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46283832 440.63 A G PASS 0/1 30 None None None 3.31 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46283541 2713.97 CAA C,... PASS 0/1 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46275503 4208.28 A C PASS 1/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46275481 5424.16 C G PASS 1/1 18 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46270210 97.63 C T PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46266260 190436.78 T C PASS 1/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46266238 237346.8 C T PASS 1/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46266025 145587.69 A G PASS 1/1 117 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46265873 89983.59 T C PASS 1/1 128 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46261213 89256.51 T C PASS 1/1 31 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46258860 115770.04 A G PASS 1/1 28 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46257020 12649.06 T C PASS 1/1 93 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46256923 4597.29 C T PASS 1/1 81 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46256797 4594.78 G A PASS 1/1 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46254546 7433.26 G A PASS 1/1 59 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46254361 41924.59 G A PASS 1/1 66 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46251776 8488.29 A G PASS 1/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46249734 1017.09 T A PASS 1/1 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46246418 25664.58 A G PASS 1/1 90 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46245202 48603.34 GAAGA G PASS 1/1 35 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46236750 19726.25 C T PASS 1/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46236382 4320.93 A AC PASS 1/1 58 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46227704 71208.25 GAAA GA... PASS 1/1 38 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46222409 2040.98 C G PASS 1/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46222358 1537.73 C T PASS 1/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46222102 15251.53 C T PASS 1/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46222082 19685.24 C G PASS 1/1 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46221786 72968.62 G T PASS 1/1 9 MOTIF[MA0147.1:Cmyc] MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46215942 5578.77 C G PASS 1/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46215631 2115.68 G A PASS 1/1 28 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46215388 5942.16 T TC PASS 1/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46196166 41992.5 G A PASS 1/1 30 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46196157 40106.0 G C PASS 1/1 25 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46194555 59780.08 A C PASS 1/1 41 None None None -1.07 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46194529 25481.18 A G PASS 1/1 34 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46193835 788.19 G A PASS 1/1 31 None None None None None None None None None None