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INDIVIDUALS:

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GENE LIST:
INDIVIDUALS:

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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
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Genes at Omim

ADH1C, NDUFS6, TAP2,
ADH1C {Parkinson disease, susceptibility to}, 168600 (3)
{Alcohol dependence, protection against}, 103780 (3)
NDUFS6 Mitochondrial complex I deficiency, 252010 (3)
TAP2 Wegener-like granulomatosis (3)
Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3)

Genes at Clinical Genomics Database

NDUFS6, TAP2,
NDUFS6 Mitochondrial complex I deficiency
TAP2 Bare lymphocyte syndrome, type I

Genes at HGMD

Summary

Number of Variants: 25
Number of Genes: 25

Export to: CSV

ADH1C

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 4 rs283413
dbSNP
100268190 1652.77 A C . 1/1 46 STOP_LOST HIGH MISSENSE 0.99281 0.99280 0.00839 None None None None None None None

C8orf12

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 rs3021518
dbSNP
11296049 980.77 T A . 0/1 91 STOP_LOST HIGH MISSENSE 0.07927 0.07927 None None None None None None None

CCDC144NL

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 17 rs4605228
dbSNP
20768730 455.77 A G . 0/1 342 STOP_LOST HIGH MISSENSE 0.01018 0.01018 None None None None None None None

GBA3

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 4 rs358231
dbSNP
22820504 2447.77 A T . 1/1 71 STOP_LOST HIGH MISSENSE 0.89157 0.89160 0.11608 None None None None None None None

IGHD2-15

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 14 rs199871660
dbSNP
106363835 134.77 T C . 0/1 64 STOP_LOST HIGH MISSENSE None None None None None None None

LEPREL2

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 rs1129649
dbSNP
6948468 409.77 T C . 0/1 30 STOP_LOST HIGH MISSENSE 0.37879 0.37880 0.34588 0.45 0.00 None None None None None None None

MED28

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 4 rs2315552
dbSNP
17627294 3927.77 A G . 1/1 124 STOP_LOST HIGH MISSENSE 0.48263 0.48260 None None None None None None None

METTL8

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 2 rs10205459
dbSNP
172180771 1939.77 A G . 1/1 66 STOP_LOST HIGH MISSENSE 0.99820 0.99820 0.00241 None None None None None None None

NDUFS6

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 rs4147773
dbSNP
1814783 173.77 T C . 0/1 24 STOP_LOST HIGH MISSENSE 0.61302 0.61300 None None None None None None None

NLRP8

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 19 rs306457
dbSNP
56499279 2209.77 G C . 1/1 66 STOP_LOST HIGH MISSENSE 0.72464 0.72460 0.26672 None None None None None None None

OAS2

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 rs15895
dbSNP
113448288 3985.77 A G . 1/1 109 STOP_LOST HIGH MISSENSE 0.86442 0.86440 0.25027 None None None None None None None

OR11H7

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 14 rs1953558
dbSNP
20698239 2328.77 T C . 0/1 165 STOP_LOST HIGH MISSENSE 0.46426 0.46430 None None None None None None None

OR12D1

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 6 rs1011985
dbSNP
29385772 1395.77 G C . 0/1 92 STOP_LOST HIGH MISSENSE 0.76837 0.76840 None None None None None None None

OR52E8

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 rs12419602
dbSNP
5877979 1312.77 T A . 0/1 88 STOP_LOST HIGH MISSENSE 0.37480 0.37480 0.41063 None None None None None None None

PKD1L2

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 16 rs8054182
dbSNP
81145807 2269.77 C G . 1/1 65 STOP_LOST HIGH MISSENSE 0.83666 0.83670 0.08046 None None None None None None None

PNLIPRP2

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 10 rs11544712
dbSNP
118387282 156.77 A G . 0/1 17 STOP_LOST HIGH MISSENSE 0.36222 0.36220 0.28099 None None None None None None None

PRIM2

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 6 rs4535533
dbSNP
57467100 5547.77 G C . 0/1 287 STOP_LOST HIGH MISSENSE None None None None None None None

PSG7

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 19 rs113247044
dbSNP
43439694 2513.77 A G . 0/1 204 STOP_LOST HIGH MISSENSE 0.13958 0.13960 0.18197 None None None None None None None

PTCHD3

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 10 rs2505323
dbSNP
27687225 5159.77 A G . 1/1 152 STOP_LOST HIGH MISSENSE 0.55012 0.55010 0.36821 None None None None None None None

RP11-507M3.1

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 mm170241ct 2 rs889830
dbSNP
24395506 1285.77 T C . 1/1 38 STOP_LOST HIGH MISSENSE 0.81350 0.81350 None None None None None None None

SERPINB11

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 18 rs4940595
dbSNP
61379838 1768.77 T G . 0/1 178 STOP_LOST HIGH MISSENSE 0.34001 None None None None None None None

TAP2

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 6 rs241448
dbSNP
32796685 171.77 A G . 0/1 13 STOP_LOST HIGH MISSENSE 0.31110 0.31110 0.18023 None None None None None None None

TGOLN2

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 2 rs4240199
dbSNP
85549868 8324.77 A G . 1/1 239 STOP_LOST HIGH MISSENSE 0.77895 0.77900 0.33657 0.04 0.00 None None None None None None None

TMEM120A

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 7 rs4732519
dbSNP
75621827 248.8 A G . 1/1 7 STOP_LOST HIGH MISSENSE 1.00000 1.00000 None None None None None None None

TSGA10IP

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 rs9795469
dbSNP
65713207 969.77 T C . 1/1 30 STOP_LOST HIGH MISSENSE 0.99940 0.99940 0.00072 None None None None None None None