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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

DOCK8, TNXB,
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
TNXB Vesicoureteral reflux 8, 615963 (3)
Ehlers-Danlos syndrome due to tenascin X deficiency, 606408 (3)

Genes at Clinical Genomics Database

DOCK8, TNXB,
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive
TNXB Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
Vesicoureteral reflux 8

Genes at HGMD

Summary

Number of Variants: 49
Number of Genes: 2

Export to: CSV
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 . 42698426 121683.67 G C PASS 1/1 111 None None None 0.39 None None rs390659 2|2 not_provided|not_specified 1|1 None
View 23 recalibrated filtered postcgp gqfiltered 6 . 42698407 140787.2 C T PASS 1/1 113 None None None 1.73 None None rs425876 2|2 not_provided|not_specified 1|1 None
View 23 recalibrated filtered postcgp gqfiltered 13 . 51970669 98722.82 C G PASS 1/1 85 None None None 0.76 None None rs1801244 2|2 Wilson's_disease|not_specified 0|2 None
View 23 recalibrated filtered postcgp gqfiltered 5 . 149981658 42914.46 A T PASS 1/1 30 None None None -1.22 None None rs3776070 2|2 Diastrophic_dysplasia|not_specified 0|1 None
View 23 recalibrated filtered postcgp gqfiltered 13 . 51950352 82264.52 T C PASS 1/1 149 None None None 2.98 None None rs1061472 2|2 Wilson's_disease|not_specified 1|2 None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63406924 15271.19 T G PASS 1/1 91 MODIFIER -1.19 None None rs1801475 2|2 Benign_familial_neonatal_seizures_1|not_specified 0|2 None
View 23 recalibrated filtered postcgp gqfiltered 11 . 65868582 83657.15 T C PASS 1/1 86 None None None -0.40 None None rs601314 2|2 Autosomal_recessive_cutis_laxa_type_IA|not_specified 0|1 None
View 23 recalibrated filtered postcgp gqfiltered 11 . 61398269 29207.83 G C PASS 1/1 40 None None None 4.13 None None rs10897158 2|2 not_specified|Familial_aplasia_of_the_vermis 2|1 None
View 23 recalibrated filtered postcgp gqfiltered 10 . 110835961 2501.37 G C PASS 1/1 35 None None None 5.50 None None rs942077 2|2 not_specified|Cardiomyopathy 1|1 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 6 . 65295995 2726.03 C T PASS 1/1 79 None None None 0.15 None None rs9342464 2|2 not_provided|not_specified 1|1 None
View 23 recalibrated filtered postcgp gqfiltered 6 . 64912570 2071.99 A G PASS 1/1 69 None None None 0.24 None None rs9294631 2|2 not_specified|not_provided 1|1 None
View 23 recalibrated filtered postcgp gqfiltered 13 . 51974004 86284.82 A C PASS 1/1 86 None None None -0.55 None None rs1801243 2|2 Wilson's_disease|not_specified 1|2 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 9 . 95447312 36008.0 G A PASS 0/1 94 None None None 6.22 None None rs357564 2|2 not_provided|not_specified 0|1 None

DOCK8

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 9 rs17673268
dbSNP
368128 8478.36 C T PASS 0/1 97 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02935 0.02935 0.07589 0.02 0.61 6.47 None None rs17673268 2|2 not_provided|not_specified 1|1 None
View 23 recalibrated filtered postcgp gqfiltered 9 rs3209441
dbSNP
286491 18328.27 G A PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07009 0.07009 0.12702 0.00 1.00 6.75 None None rs3209441 2|2 not_provided|not_specified 1|1 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 8 . 54626835 92911.82 A T PASS 0/1 49 None None None 2.88 None None rs2293869 2|2 Hypertriglyceridemia,_susceptibility_to|not_specified 0|1 None
View 23 recalibrated filtered postcgp gqfiltered 8 . 6643023 14474.61 C T PASS 0/1 29 None None None -0.62 None None rs1057091 2|2 Primary_autosomal_recessive_microcephaly_1|not_specified 0|2 None
View 23 recalibrated filtered postcgp gqfiltered 8 . 6621521 38892.25 C T PASS 0/1 99 None None None 0.69 None None rs1057090 2|2 Primary_autosomal_recessive_microcephaly_1|not_specified 0|2 None
View 23 recalibrated filtered postcgp gqfiltered 7 . 103651665 1575.57 T G PASS 0/1 40 None None None 4.94 None None rs115734214 2|2 not_specified|not_provided 1|1 None
View 23 recalibrated filtered postcgp gqfiltered 7 . 92083384 33680.63 A G PASS 0/1 51 None None None -0.08 None None rs6960867 2|2 not_specified|Cardiac_arrhythmia 1|1 None
View 23 recalibrated filtered postcgp gqfiltered 6 . 87530852 5732.57 C T PASS 0/1 118 None None None -0.34 None None rs35862137 2|2 not_specified|not_provided 1|1 None
View 23 recalibrated filtered postcgp gqfiltered 6 . 65495052 26253.0 G A PASS 0/1 53 None None None 3.29 None None rs12193967 2|2 not_provided|not_specified 1|1 None
View 23 recalibrated filtered postcgp gqfiltered 6 . 64591611 1042.8 A G PASS 0/1 57 None None None -1.78 None None rs624851 2|2 not_specified|not_provided 1|1 None

TNXB

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 . 32040072 1400.74 G C PASS 0/1 144 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.84 -1.58 None None rs6472 2|2 21-HYDROXYLASE_POLYMORPHISM|21-hydroxylase_deficiency 0|0 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 5 . 74689390 121763.63 A G PASS 0/1 46 None None None -2.64 None None rs11556045 2|2 HEXB_POLYMORPHISM|not_specified 0|1 None
View 23 recalibrated filtered postcgp gqfiltered 3 . 142459302 21637.3 C T PASS 0/1 56 None None None 1.12 None None rs2229032 2|2 not_provided|not_specified 1|1 None
View 23 recalibrated filtered postcgp gqfiltered 2 . 26519093 5276.81 G A PASS 0/1 87 None None None 3.10 None None rs13031859 2|2 Deafness,_autosomal_recessive_9|not_specified 0|1 None
View 23 recalibrated filtered postcgp gqfiltered 1 . 216421964 129566.7 C T PASS 0/1 53 None None None 0.03 None None rs10779261 2|2 not_specified|not_provided 2|1 None
View 23 recalibrated filtered postcgp gqfiltered 1 . 216289320 830.63 T A PASS 0/1 88 None None None 2.57 None None rs1805048 2|2 not_specified|not_provided 1|1 None
View 23 recalibrated filtered postcgp gqfiltered 1 . 215786825 51605.54 T G PASS 0/1 82 None None None 0.03 None None rs10864198 2|2 not_specified|not_provided 2|1 None
View 23 recalibrated filtered postcgp gqfiltered 1 . 197101567 50333.48 T C PASS 0/1 45 None None None 5.21 None None rs41310927 2|2 Primary_autosomal_recessive_microcephaly_5|not_specified 0|1 None
View 23 recalibrated filtered postcgp gqfiltered 1 . 197101312 24272.48 G T PASS 0/1 34 None None None 0.35 None None rs3762271 2|2 Primary_autosomal_recessive_microcephaly_5|not_specified 0|1 None
View 23 recalibrated filtered postcgp gqfiltered 1 . 53213557 17063.67 A G PASS 0/1 38 None None None 3.42 None None rs1799822 2|2 not_specified|Carnitine_palmitoyltransferase_II_deficiency 2|0 None
View 23 recalibrated filtered postcgp gqfiltered 1 . 53210776 65299.16 G A PASS 0/1 45 None None None -1.83 None None rs1799821 2|2 not_specified|Carnitine_palmitoyltransferase_II_deficiency 2|0 None
View 23 recalibrated filtered postcgp gqfiltered 19 . 18786630 3534.35 T C PASS 0/1 73 None None None 4.76 None None rs61739916 2|2 Pseudoachondroplastic_spondyloepiphyseal_dysplasia_syndrome|Multiple_epiphyseal_dysplasia_1 0|0 None
View 23 recalibrated filtered postcgp gqfiltered 18 . 31069009 4164.35 C T PASS 0/1 84 None None None 0.32 None None rs61731921 2|2 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified 0|2 None
View 23 recalibrated filtered postcgp gqfiltered 17 . 75522247 661.82 A C PASS 0/1 42 None None None -0.49 None None rs77247739 2|2 not_specified|not_provided 2|1 None
View 23 recalibrated filtered postcgp gqfiltered 17 . 75516803 3966.35 T G PASS 0/1 89 None None None 3.43 None None rs8079373 2|2 not_specified|not_provided 2|1 None
View 23 recalibrated filtered postcgp gqfiltered 15 . 89326688 716.63 G A PASS 0/1 47 None None None 5.63 None None rs2307447 2|2 Mitochondrial_diseases|not_specified 0|1 None
View 23 recalibrated filtered postcgp gqfiltered 12 . 32869000 23539.02 A G PASS 0/1 59 None None None 0.11 None None rs1046116 2|2 not_specified|Arrhythmogenic_right_ventricular_cardiomyopathy 1|1 None
View 23 recalibrated filtered postcgp gqfiltered 10 . 86876022 52182.57 C A PASS 0/1 172 None None None 0.68 None None rs11528010 2|2 not_provided|Hereditary_cancer-predisposing_syndrome 0|1 None
View 23 recalibrated filtered postcgp gqfiltered 10 . 68174501 93939.25 C G PASS 0/1 124 None None None 2.03 None None rs3814182 2|2 not_specified|Cardiomyopathy 1|1 None
View 23 recalibrated filtered postcgp gqfiltered 10 . 68174212 88999.88 G A PASS 0/1 112 None None None 1.88 None None rs7916821 2|2 not_specified|Cardiomyopathy 1|1 None
View 23 recalibrated filtered postcgp gqfiltered 10 . 68174164 95443.63 G A PASS 0/1 109 None None None 0.66 None None rs10997975 2|2 not_specified|Cardiomyopathy 1|1 None
View 23 recalibrated filtered postcgp gqfiltered 10 . 68166577 52175.63 C G PASS 0/1 66 None None None 0.76 None None rs10823148 2|2 not_specified|Cardiomyopathy 1|1 None
View 23 recalibrated filtered postcgp gqfiltered 10 . 71738598 2656.57 G A PASS 0/1 75 None None None 3.91 None None rs56181447 2|2 not_specified|not_provided 1|1 None
View 23 recalibrated filtered postcgp gqfiltered 10 . 68199485 38310.54 C A PASS 0/1 74 None None None 6.54 None None rs7079481 2|2 not_specified|Cardiomyopathy 1|1 None