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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

HYDIN, KAT6B, MAP3K1, MSH3, PIEZO1, TMIE, WDR81,
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
KAT6B SBBYSS syndrome, 603736 (3)
Genitopatellar syndrome, 606170 (3)
MAP3K1 46XY sex reversal 6, 613762 (3)
MSH3 Familial adenomatous polyposis 4, 617100 (3)
Endometrial carcinoma, somatic, 608089 (3)
PIEZO1 Lymphedema, hereditary, III, 616843 (3)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3)
TMIE Deafness, autosomal recessive 6, 600971 (3)
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)

Genes at Clinical Genomics Database

KAT6B, MAP3K1, MSH3, PIEZO1, TMIE, WDR81,
KAT6B Genitopatellar syndrome
Ohdo syndrome, SBBYS variant
MAP3K1 46,XY sex reversal 6
MSH3 Endometrial carcinoma
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
TMIE Deafness, autosomal recessive 6
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2

Genes at HGMD

Summary

Number of Variants: 33
Number of Genes: 33

Export to: CSV

AC008948.1

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 hp37_1_filt_10x 5 rs149085489
dbSNP
101570503 2004.73 CT... C PASS 0/1 65 CODON_DELETION MODERATE 0.40575 0.40580 None None None None None None None

ARHGAP39

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 hp37_1_filt_10x 8 rs138155129
dbSNP
145773341 676.73 TCTG T PASS 0/1 41 CODON_DELETION MODERATE 0.01777 0.01777 0.05398 None None None None None None None

ASMTL

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 hp37_1_filt_10x X rs762418999
dbSNP
1522341 559.73 TCTC T PASS 0/1 20 CODON_DELETION MODERATE 0.00008 None None None None None None None

C19orf33

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 hp37_1_filt_10x 19 rs139805446
dbSNP
38795546 733.73 TGAA T PASS 0/1 23 CODON_DELETION MODERATE 0.15395 0.15400 0.13221 None None None None None None None

CCDC33

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 hp37_1_filt_10x 15 rs10552820,rs35899977,rs397774110
dbSNP
74536400 491.73 TAAG T PASS 0/1 16 CODON_DELETION MODERATE 0.37700 0.37700 0.46150 None None None None None None None

FBXL21

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 hp37_1_filt_10x 5 rs1160982,rs568134250
dbSNP
135276201 753.73 AGTT A PASS 0/1 23 CODON_DELETION MODERATE 0.73423 0.73420 0.30509 None None None None None None None

HDGFRP2

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 hp37_1_filt_10x 19 rs72100503,rs34068770
dbSNP
4499632 810.87 AA... A PASS 1/1 18 CODON_DELETION MODERATE 0.51777 0.51780 0.03253 None None None None None None None

HYDIN

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 hp37_1_filt_10x 16 rs67115747,rs375727122
dbSNP
70954703 1440.73 GG... G PASS 0/1 24 CODON_DELETION MODERATE None None None None None None None

IGHV4-39

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 hp37_1_filt_10x 14 rs139927975
dbSNP
106877816 1585.73 AACT A PASS 0/1 65 CODON_DELETION MODERATE 0.23428 None None None None None None None

KAT6B

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 hp37_1_filt_10x 10 rs71929101,rs72074375,rs144154275,rs559824889
dbSNP
76781905 325.73 GGAA G PASS 0/1 20 CODON_DELETION MODERATE 0.00220 0.45870 None None None None None None None

KCNJ12

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 hp37_1_filt_10x 17 rs112163749
dbSNP
21319650 815.73 CGAG C PASS 0/1 61 CODON_DELETION MODERATE None None None None None None None

LRRC17

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 hp37_1_filt_10x 7 rs3832497,rs531650613
dbSNP
102574999 971.73 TGAA T PASS 0/1 45 CODON_DELETION MODERATE 0.63179 0.63180 0.25633 None None None None None None None

MAML3

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 hp37_1_filt_10x 4 rs5862430,rs758674725,rs397881377,rs3051167
dbSNP
140651584 1952.73 TCTG T PASS 1/1 51 CODON_DELETION MODERATE 0.99101 0.99100 None None None None None None None

MAP3K1

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 hp37_1_filt_10x 5 rs5868032,rs869174877,rs869264361,rs10552703,rs398064829
dbSNP
56177848 3780.73 TCAA T PASS 1/1 89 CODON_DELETION MODERATE None None None None None None None

MSH3

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 hp37_1_filt_10x 5 rs144629981,rs3045983
dbSNP
79950741 1407.73 GC... G PASS 1/1 13 CODON_DELETION MODERATE 0.23443 0.23440 0.30955 None None None None None None None

MYO1H

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 hp37_1_filt_10x 12 rs563397648
dbSNP
109883388 799.73 TA... T PASS 0/1 29 CODON_DELETION MODERATE 0.00280 0.00280 None None None None None None None

NINL

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 hp37_1_filt_10x 20 rs68078266,rs34410422
dbSNP
25457049 1940.73 GC... G PASS 1/1 24 CODON_DELETION MODERATE 0.55731 0.55730 0.42148 None None None None None None None

NUCB2

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 hp37_1_filt_10x 11 rs3842269,rs535406012
dbSNP
17352477 353.73 TACA T PASS 0/1 21 CODON_DELETION MODERATE 0.25359 0.25360 0.22995 None None None None None None None

OR4X1

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 hp37_1_filt_10x 11 rs76884411,rs57294041
dbSNP
48285981 1013.73 CCTT C PASS 0/1 70 CODON_DELETION MODERATE 0.60403 0.60400 0.30860 None None None None None None None

PIEZO1

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 hp37_1_filt_10x 16 rs150376294,rs750038587,rs3217718
dbSNP
88787607 2135.73 CCTT C PASS 1/1 39 CODON_DELETION MODERATE 0.21586 0.21590 0.28015 None None None None None None None

PIK3C2G

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 hp37_1_filt_10x 12 rs35277916,rs796435817
dbSNP
18435398 472.73 GCCC G PASS 0/1 21 CODON_DELETION MODERATE 0.30831 0.30830 0.34238 None None None None None None None

PRR25

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 hp37_1_filt_10x 16 rs137876084,rs368672563
dbSNP
855517 1865.73 GG... G PASS 0/1 38 CODON_DELETION MODERATE 0.09844 0.09844 0.03109 None None None None None None None

PRSS3

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 hp37_1_filt_10x 9 rs143332708,rs3831310
dbSNP
33796690 730.73 TGAG T PASS 0/1 39 CODON_DELETION MODERATE 0.13898 0.13900 0.13668 None None None None None None None

RFPL1

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 hp37_1_filt_10x 22 rs71324764,rs3842466
dbSNP
29837566 1346.73 TTCC T PASS 0/1 56 CODON_DELETION MODERATE 0.26677 0.26680 0.35245 None None None None None None None

RRBP1

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 hp37_1_filt_10x 20 rs753901764
dbSNP
17595501 444.73 ACTT A PASS 0/1 32 CODON_DELETION MODERATE None None None None None None None

TDRD3

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 hp37_1_filt_10x 13 rs148917045,rs75684327
dbSNP
61102575 443.73 GATA G PASS 0/1 29 CODON_DELETION MODERATE 0.12061 0.12060 0.14451 None None None None None None None

TMC2

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 hp37_1_filt_10x 20 rs142900000
dbSNP
2621820 1149.73 CAAG C PASS 0/1 35 CODON_DELETION MODERATE 0.01278 0.01278 0.00823 None None None None None None None

TMIE

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 hp37_1_filt_10x 3 rs10578999,rs71619660,rs552239745,rs869283685,rs397817178
dbSNP
46751073 1378.73 TAAG T PASS 1/1 30 CODON_DELETION MODERATE 0.75320 None None None None None None None

TNIP3

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 hp37_1_filt_10x 4 rs145809864,rs368649198
dbSNP
122078299 1338.73 CT... C PASS 0/1 20 CODON_DELETION MODERATE 0.08031 None None None None None None None

USP20

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 hp37_1_filt_10x 9 rs10602985,rs760862530,rs398096692
dbSNP
132630664 1163.73 TGAC T PASS 1/1 23 CODON_DELETION MODERATE 0.84864 0.84860 0.19048 None None None None None None None

WDR81

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 hp37_1_filt_10x 17 rs35048651,rs577690948
dbSNP
1631340 620.73 TGAG T PASS 0/1 40 CODON_DELETION MODERATE 0.21186 0.21190 0.18584 None None None None None None None

ZNF283

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 hp37_1_filt_10x 19 rs79626467,rs71907168
dbSNP
44351166 260.73 GG... G PASS 0/1 17 CODON_DELETION MODERATE 0.38778 0.38780 0.38758 None None None None None None None

ZNF284

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 hp37_1_filt_10x 19 rs139900131,rs369411341
dbSNP
44589999 3938.73 TCTC T PASS 1/1 68 CODON_DELETION MODERATE 0.45088 0.45090 0.44731 None None None None None None None