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
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Genes at Omim

CCT5,
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)

Genes at Clinical Genomics Database

CCT5,
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia

Genes at HGMD

Summary

Number of Variants: 294
Number of Genes: 7

Export to: CSV

AADACL3

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 mm170241ct 1 rs3000859
dbSNP
12776344 1276.77 A T . 1/1 38 START_GAINED LOW 0.65655 0.65650 0.27373 1.00 0.00 None None None None None None None

ADAM32

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 mm170241ct 8 rs59118660
dbSNP
38965271 1025.77 C T . 0/1 68 START_GAINED LOW 0.43790 0.43790 0.33230 None None None None None None None

AIDA

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 mm170241ct 1 rs3811465
dbSNP
222886119 2084.77 A G . 1/1 58 START_GAINED LOW 0.75719 0.75720 0.06 0.00 None None None None None None None

ARMCX4

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 mm170241ct X rs963618
dbSNP
100743037 1436.77 C T . 1/1 41 START_GAINED LOW 0.65987 0.65990 None None None None None None None

C12orf43

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 mm170241ct 12 rs2258227
dbSNP
121454257 3597.77 T A . 1/1 105 START_GAINED LOW 0.78474 0.78470 0.25142 None None None None None None None

CCT5

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 mm170241ct 5 rs2578618
dbSNP
10250443 481.77 T C . 0/1 36 START_GAINED LOW 0.68530 0.68530 0.28195 0.00 None None None None None None None

RAB38

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 mm170241ct 11 rs3812730
dbSNP
87908563 361.77 G A . 0/1 30 START_GAINED LOW 0.20747 0.20750 0.24608 0.11 0.01 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 mm170241ct 22 rs2269524
dbSNP
42475703 149.77 T G . 0/1 8 START_GAINED LOW 0.32428 0.32430 None None None None None None None
View mm170241ct 22 rs5756515
dbSNP
37499692 549.77 A G . 0/1 22 START_GAINED LOW 0.28474 0.28470 None None None None None None None
View mm170241ct 22 rs5765689
dbSNP
44893563 172.77 A G . 0/1 8 START_GAINED LOW 0.22005 0.22000 None None None None None None None
View mm170241ct 22 rs1005887
dbSNP
31060029 211.77 G C . 0/1 12 START_GAINED LOW 0.48762 0.48760 0.42262 None None None None None None None
View mm170241ct 22 rs737953
dbSNP
30987861 1592.77 G C . 1/1 43 START_GAINED LOW 0.39449 None None None None None None None
View mm170241ct 22 rs59738245
dbSNP
39417261 68.77 C T . 0/1 5 START_GAINED LOW 0.06190 0.06190 None None None None None None None
View mm170241ct 22 rs381819
dbSNP
23230001 127.03 C T . 1/1 4 START_GAINED LOW 0.72484 0.72480 None None None None None None None
View mm170241ct 22 rs1061063
dbSNP
21213380 1042.77 C T . 0/1 84 START_GAINED LOW 0.46386 0.46390 0.48199 None None None None None None None
View mm170241ct 21 . 45079432 249.28 C T . 0/1 9 START_GAINED LOW None None None None None None None
View mm170241ct 21 rs2838343
dbSNP
45078035 1822.77 C T . 1/1 62 START_GAINED LOW 0.63459 0.63460 None None None None None None None
View mm170241ct 21 rs3746886
dbSNP
40685598 12.77 G A LowQual 1/1 1 START_GAINED LOW 0.83327 0.83330 None None None None None None None
View mm170241ct 21 rs1041746
dbSNP
34915325 441.98 G C . 1/1 15 START_GAINED LOW 0.99920 0.99920 None None None None None None None
View mm170241ct 21 rs112644530
dbSNP
33765496 128.03 A C . 1/1 5 START_GAINED LOW 0.12540 0.12540 None None None None None None None
View mm170241ct 21 rs2298683
dbSNP
38445069 37.74 T C . 1/1 2 START_GAINED LOW 0.38918 0.38920 None None None None None None None
View mm170241ct 20 rs2297432
dbSNP
62290663 13.72 C T LowQual 1/1 2 START_GAINED LOW 0.43790 0.43790 None None None None None None None
View mm170241ct 20 rs185287315
dbSNP
62103904 48.74 C A . 1/1 2 START_GAINED LOW 0.14078 0.14080 None None None None None None None
View mm170241ct 20 rs151333
dbSNP
57556295 135.77 C T . 0/1 13 START_GAINED LOW None None None None None None None
View mm170241ct 20 rs113393186
dbSNP
55841324 90.28 G A . 1/1 3 START_GAINED LOW 0.00938 0.00939 None None None None None None None
View mm170241ct 20 rs2234197
dbSNP
43589041 417.77 G A . 0/1 22 START_GAINED LOW 0.15675 0.15670 None None None None None None None
View mm170241ct 20 rs6083173
dbSNP
23549216 50.77 C A . 0/1 5 START_GAINED LOW 0.36562 0.36560 None None None None None None None
View mm170241ct 20 rs75351461
dbSNP
30458612 203.84 C T . 1/1 7 START_GAINED LOW 0.08367 0.08367 None None None None None None None
View mm170241ct 20 rs2232257
dbSNP
9495297 69.77 C T . 0/1 7 START_GAINED LOW 0.21446 0.21450 None None None None None None None
View mm170241ct 20 rs6083956
dbSNP
2633114 51.74 C T . 1/1 2 START_GAINED LOW 0.85843 0.85840 None None None None None None None
View mm170241ct 19 rs113009364
dbSNP
56270463 12.77 C A LowQual 1/1 3 START_GAINED LOW None None None None None None None
View mm170241ct 19 rs10424429
dbSNP
58400306 271.77 G A . 0/1 15 START_GAINED LOW 0.07867 0.07867 None None None None None None None
View mm170241ct 19 rs11880137
dbSNP
58095678 217.77 C G . 0/1 19 START_GAINED LOW 0.14756 0.14760 0.09734 None None None None None None None
View mm170241ct 19 rs12463137
dbSNP
58011421 164.77 G T . 0/1 19 START_GAINED LOW 0.26098 0.26100 0.20417 None None None None None None None
View mm170241ct 19 rs56241253
dbSNP
57946924 216.84 G C . 1/1 7 START_GAINED LOW 0.32308 0.32310 0.37234 None None None None None None None
View mm170241ct 19 rs4801480
dbSNP
57922664 595.77 T C . 1/1 16 START_GAINED LOW 0.92891 0.92890 None None None None None None None
View mm170241ct 19 rs58264281
dbSNP
57742489 587.77 C T . 1/1 18 START_GAINED LOW 0.76777 0.76780 None None None None None None None
View mm170241ct 19 rs11084490
dbSNP
57742472 692.77 G C . 1/1 20 START_GAINED LOW 0.86761 0.86760 None None None None None None None
View mm170241ct 19 rs117371487
dbSNP
55105706 300.77 C T . 0/1 22 START_GAINED LOW 0.02376 0.02376 0.02691 None None None None None None None
View mm170241ct 19 rs13345069
dbSNP
54784908 10.2 C A LowQual 0/1 12 START_GAINED LOW 0.35523 0.35520 None None None None None None None
View mm170241ct 19 rs11553092
dbSNP
51456015 150.77 G A . 0/1 12 START_GAINED LOW 0.39277 0.39280 None None None None None None None
View mm170241ct 19 rs638050
dbSNP
49375676 1011.77 T C . 0/1 73 START_GAINED LOW 0.41294 0.41290 None None None None None None None
View mm170241ct 19 rs20579
dbSNP
48668830 1352.77 G A . 0/1 96 START_GAINED LOW 0.17312 0.17310 0.18445 None None None None None None None
View mm170241ct 19 rs2304118
dbSNP
39440966 516.77 T C . 1/1 16 START_GAINED LOW 0.47504 0.47500 0.30820 None None None None None None None
View mm170241ct 19 rs2546028
dbSNP
35454604 493.77 A C . 0/1 53 START_GAINED LOW 0.63618 0.63620 0.39730 None None None None None None None
View mm170241ct 19 rs2364625
dbSNP
23869941 1828.77 A G . 1/1 53 START_GAINED LOW 0.97304 0.97300 None None None None None None None
View mm170241ct 19 rs10405424
dbSNP
23433107 1526.77 G C . 1/1 46 START_GAINED LOW 0.54113 0.54110 None None None None None None None
View mm170241ct 19 rs75668513
dbSNP
21950302 1587.77 C T . 0/1 100 START_GAINED LOW 0.06510 0.06510 0.05629 None None None None None None None
View mm170241ct 19 rs2012013
dbSNP
21541806 933.77 T C . 1/1 31 START_GAINED LOW 0.60204 0.60200 None None None None None None None
View mm170241ct 19 rs2081054
dbSNP
21203552 1851.77 C T . 1/1 51 START_GAINED LOW 0.91893 0.91890 0.05497 None None None None None None None
View mm170241ct 19 rs6511905
dbSNP
14142616 89.77 C G . 0/1 11 START_GAINED LOW 0.49082 0.49080 None None None None None None None
View mm170241ct 19 rs74933767
dbSNP
14049191 21.8 G A LowQual 0/1 9 START_GAINED LOW 0.27875 0.27880 None None None None None None T
View mm170241ct 19 rs17002013
dbSNP
9251220 693.77 C T . 0/1 66 START_GAINED LOW 0.21066 0.21070 None None None None None None None
View mm170241ct 19 rs61606737
dbSNP
4472322 150.77 C T . 0/1 9 START_GAINED LOW 0.00060 0.00060 0.27867 None None None None None None None
View mm170241ct 19 rs17703895
dbSNP
6591146 36.77 C A . 0/1 4 START_GAINED LOW 0.15955 0.15950 None None None None None None None
View mm170241ct 19 rs12981209
dbSNP
2900930 202.84 C T . 1/1 6 START_GAINED LOW 0.74521 0.74520 None None None None None None None
View mm170241ct 18 rs2277717
dbSNP
44702718 211.77 C A . 0/1 18 START_GAINED LOW 0.33127 0.33130 None None None None None None None
View mm170241ct 18 rs8085444
dbSNP
43652203 200.77 G A . 0/1 15 START_GAINED LOW 0.23802 0.23800 0.28206 None None None None None None None
View mm170241ct 18 rs4798453
dbSNP
6511473 941.77 C T . 1/1 28 START_GAINED LOW 0.95747 0.95750 None None None None None None None
View mm170241ct 18 rs9964971
dbSNP
12094006 213.77 C T . 0/1 17 START_GAINED LOW 0.52596 0.52600 None None None None None None None
View mm170241ct 18 rs62090069
dbSNP
606993 108.77 G T . 0/1 11 START_GAINED LOW 0.00659 0.00659 None None None None None None None
View mm170241ct 17 rs4789936
dbSNP
76897974 1094.77 C T . 1/1 31 START_GAINED LOW 0.44070 0.44070 None None None None None None None
View mm170241ct 17 rs190408119
dbSNP
79989546 37.74 C T . 1/1 2 START_GAINED LOW 0.40735 0.40730 None None None None None None None
View mm170241ct 17 rs185864818
dbSNP
79918833 38.77 G A . 0/1 4 START_GAINED LOW 0.01857 0.01857 None None None None None None None
View mm170241ct 17 rs4796852
dbSNP
79899698 284.78 G A . 1/1 8 START_GAINED LOW 0.42752 0.42750 None None None None None None None
View mm170241ct 17 rs4968335
dbSNP
57776475 392.77 T C . 0/1 27 START_GAINED LOW 0.80232 0.80230 None None None None None None None
View mm170241ct 17 rs191826884
dbSNP
47841459 12.77 G A LowQual 1/1 1 START_GAINED LOW 0.00240 0.00240 0.00104 None None None None None None None
View mm170241ct 17 rs4432296
dbSNP
40118807 105.1 C T . 1/1 5 START_GAINED LOW 0.68870 0.68870 None None None None None None None
View mm170241ct 17 rs12449671
dbSNP
39471929 54.77 G A . 0/1 14 START_GAINED LOW 0.18830 0.18830 0.15806 None None None None None None None
View mm170241ct 17 rs449817
dbSNP
39341266 722.77 A G . 1/1 22 START_GAINED LOW 0.95208 0.95210 None None None None None None None
View mm170241ct 17 rs452531
dbSNP
39341158 2254.77 G A . 1/1 70 START_GAINED LOW 0.95208 0.95210 0.06652 None None None None None None None
View mm170241ct 17 rs79809401
dbSNP
21318603 409.77 C T . 0/1 41 START_GAINED LOW None None None None None None None
View mm170241ct 17 rs6503230
dbSNP
9479364 937.77 T C . 1/1 24 START_GAINED LOW 0.72963 0.72960 None None None None None None None
View mm170241ct 17 rs1157900
dbSNP
6544248 48.74 G A . 1/1 2 START_GAINED LOW 0.71586 0.71590 None None None None None None None
View mm170241ct 17 rs1058117
dbSNP
5323206 201.84 T G . 1/1 7 START_GAINED LOW 0.57209 0.57210 None None None None None None None
View mm170241ct 17 rs3809805
dbSNP
3704483 330.77 G A . 0/1 29 START_GAINED LOW 0.16174 0.16170 0.11733 None None None None None None None
View mm170241ct 17 rs4790335
dbSNP
2318695 1104.77 G A . 1/1 32 START_GAINED LOW 0.69309 0.69310 0.40287 None None None None None None None
View mm170241ct 16 rs9796835
dbSNP
89981303 122.77 G T . 0/1 13 START_GAINED LOW 0.48363 0.48360 None None None None None None None
View mm170241ct 16 rs400345
dbSNP
84328494 277.77 C T . 0/1 13 START_GAINED LOW 0.30811 0.30810 None None None None None None None
View mm170241ct 16 rs3743602
dbSNP
75590113 214.77 C G . 0/1 29 START_GAINED LOW 0.19709 0.19710 0.17539 None None None None None None None
View mm170241ct 16 rs1061546
dbSNP
57771126 242.77 G T . 0/1 24 START_GAINED LOW 0.10583 0.10580 0.16190 None None None None None None None
View mm170241ct 16 rs78076550
dbSNP
56553816 376.77 A C . 0/1 26 START_GAINED LOW 0.11701 0.11700 0.06152 None None None None None None None
View mm170241ct 16 rs1550477
dbSNP
30773822 591.77 T C . 1/1 16 START_GAINED LOW 0.96745 0.96750 0.03755 None None None None None None None
View mm170241ct 16 rs111993640
dbSNP
29817998 322.78 C T . 1/1 9 START_GAINED LOW 0.90216 0.90220 0.05368 None None None None None None None
View mm170241ct 16 rs11570139
dbSNP
12059038 198.77 C T . 0/1 15 START_GAINED LOW 0.11322 0.11320 None None None None None None None
View mm170241ct 16 rs12149160
dbSNP
11439303 47.74 G T . 1/1 2 START_GAINED LOW 0.36062 0.36060 None None None None None None None
View mm170241ct 16 rs12928825
dbSNP
20085030 190.84 G A . 1/1 6 START_GAINED LOW 0.42991 0.42990 None None None None None None None
View mm170241ct 16 rs841184
dbSNP
4660342 884.77 C T . 1/1 26 START_GAINED LOW 0.81709 0.81710 None None None None None None None
View mm170241ct 16 rs11644380
dbSNP
2979640 268.78 T C . 1/1 8 START_GAINED LOW 0.28075 0.28080 0.37775 None None None None None None None
View mm170241ct 15 rs3743364
dbSNP
92937276 1125.77 C T . 1/1 30 START_GAINED LOW 0.57328 0.57330 0.26005 None None None None None None None
View mm170241ct 15 rs3743365
dbSNP
92937268 1047.77 G T . 1/1 30 START_GAINED LOW 0.57628 0.57630 0.25263 None None None None None None None
View mm170241ct 15 rs2589941
dbSNP
90931457 188.77 C T . 0/1 16 START_GAINED LOW 0.67772 0.67770 None None None None None None None
View mm170241ct 15 rs8040457
dbSNP
83735926 156.77 C G . 0/1 14 START_GAINED LOW 0.32987 0.32990 0.36348 None None None None None None None
View mm170241ct 15 rs1365610
dbSNP
45694610 552.77 C T . 0/1 46 START_GAINED LOW 0.45248 0.45250 0.27057 None None None None None None None
View mm170241ct 15 rs1820518
dbSNP
45694579 339.77 C T . 0/1 36 START_GAINED LOW 0.45048 0.45050 0.26810 None None None None None None None
View mm170241ct 15 rs7164139
dbSNP
45670851 49.74 G A . 1/1 3 START_GAINED LOW 0.44389 0.44390 None None None None None None None
View mm170241ct 15 rs654276
dbSNP
44090854 893.77 T C . 1/1 25 START_GAINED LOW 0.84665 0.84660 None None None None None None None
View mm170241ct 15 rs7169010
dbSNP
41047024 279.78 G A . 1/1 10 START_GAINED LOW 0.60863 0.60860 0.37254 None None None None None None None
View mm170241ct 14 rs2369421
dbSNP
96556828 511.77 C T . 0/1 31 START_GAINED LOW 0.23023 0.23020 None None None None None None None
View mm170241ct 14 rs75432828
dbSNP
100772800 46.74 G A . 1/1 2 START_GAINED LOW 0.30351 0.30350 None None None None None None None