+ Filter Options

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 10

+ Genes associated with diseases 3

Genes at Omim

HLA-C, LARP7, TGIF1,
HLA-C {HIV-1 viremia, susceptibility to}, 609423 (3)
{Psoriasis susceptibility 1}, 177900 (3)
LARP7 Alazami syndrome, 615071 (3)
TGIF1 Holoprosencephaly 4, 142946 (3)

Genes at Clinical Genomics Database

BLM, LARP7, TGIF1,
BLM Bloom syndrome
LARP7 Alazami syndrome
TGIF1 Holoprosencephaly 4

Genes at HGMD

Summary

Number of Variants: 24
Number of Genes: 10

Export to: CSV
  • Page 1 of 1

BLM
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 allfamilies AWK 15 rs2227935
dbSNP Clinvar 		91326099 98.49 C A,T PASS 0/2 30 NON_SYNONYMOUS_CODING MODERATE None 0.05132 0.05132 0.06804 0.01 0.30 None None None None None None BLM|0.189946543|37.81%

CRTAM
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 allfamilies AWK 11 rs34242434
dbSNP Clinvar 		122742050 985.82 T A,C PASS 0/2 119 NON_SYNONYMOUS_CODING MODERATE None 0.13938 0.13940 0.12214 0.42 0.00 None None None None None None CRTAM|0.009908361|80.92%

HLA-C
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 allfamilies AWK 6 rs79636386,rs2308592
dbSNP Clinvar 		31238930 600.96 A C,T PASS 0/2 93 NON_SYNONYMOUS_CODING MODERATE None 0.37121 0.37120 0.40 0.01 None None None None None None HLA-C|0.028815016|70%

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 allfamilies AWK 17 rs2917720
dbSNP Clinvar 		21319860 1570.8 C T,A PASS 0/2 660 NON_SYNONYMOUS_CODING MODERATE None 0.53 0.01 None None None None None None KCNJ12|0.437556296|18.82%

LARP7
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 allfamilies AWK 4 . 113565878 144.69 AAAAG A,AA PASS 0/2 42 FRAME_SHIFT HIGH None None None None None None None LARP7|0.077306287|55.82%

MICA
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 allfamilies AWK 6 rs41293539
dbSNP Clinvar 		31380161 321.42 G GC... PASS 0/2 104 FRAME_SHIFT HIGH None 0.00659 0.23380 None None None None None None MICA|0.000484981|98.52%

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 allfamilies AWK 6 rs77436138
dbSNP Clinvar 		57398226 450.517 T G,A PASS 0/2 240 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None PRIM2|0.188824743|37.96%

TGIF1
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 allfamilies AWK 18 rs202189171
dbSNP Clinvar 		3452221 1528.73 CCT C,... PASS 0/2 182 FRAME_SHIFT HIGH None 0.32556 None None None None None None TGIF1|0.263915986|30.39%

ZNF253
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 allfamilies AWK 19 . 20002990 65.11 T C,TAC PASS 0/2 29 FRAME_SHIFT HIGH None None None None None None None ZNF253|0.001372741|93.51%

ZNF419
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 allfamilies AWK 19 . 58005168 30.59 G A,GA PASS 0/2 9 FRAME_SHIFT HIGH None None None None None None None ZNF419|0.000986846|95.52%
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 allfamilies AWK 15 rs35820949
dbSNP Clinvar 		90173734 540.091 C CA... PASS 0/2 85 None None None 0.49221 0.49220 0.42568 None None None None None None TICRR|0.016885575|75.94%,KIF7|0.130532597|45.81%
View allfamilies AWK 6 rs753726
dbSNP Clinvar 		30890569 1016.36 G C,T PASS 0/2 154 None None None 0.22205 0.22200 0.29424 None None None None None None VARS2|0.057795482|60.45%
View allfamilies AWK 12 rs3067490
dbSNP Clinvar 		6437171 307.49 T TG... PASS 0/2 182 None None None 0.39836 0.39840 None None None None None None PLEKHG6|0.021055929|73.65%
View allfamilies AWK 19 . 35556714 2417.89 GGT G,GG PASS 0/2 179 None None None None None None None None None HPN|0.094787511|52.17%
View allfamilies AWK 7 . 103969194 169.59 CA... CA... PASS 0/2 20 None None None None None None None None None LHFPL3|0.842910442|4.81%
View allfamilies AWK 1 rs284242
dbSNP Clinvar 		10706091 347.37 G A,C PASS 0/2 168 None None None 0.09225 0.09225 None None None None None None CASZ1|0.585063144|12.36%
View allfamilies AWK 4 rs7663440
dbSNP Clinvar 		122137662 1607.52 T A,G PASS 0/2 119 None None None 0.87800 0.87800 None None None None None None TNIP3|0.011682267|79.46%
View allfamilies AWK 10 . 6257414 23.98 C A,CA PASS 0/2 7 None None None None None None None None None PFKFB3|0.234155897|32.99%
View allfamilies AWK 18 rs138785518,rs769695107,rs71164956
dbSNP Clinvar 		52585071 300.068 GA... GA... PASS 0/2 71 None None None None None None None None None CCDC68|0.06035994|59.77%
View allfamilies AWK 11 rs7114672
dbSNP Clinvar 		5989415 1257.51 C A,T PASS 0/2 108 None None None 0.17093 0.17090 0.45883 None None None None None None None
View allfamilies AWK 3 . 195492089 50.12 T TG... PASS 0/2 17 None None None None None None None None None MUC4|0.005441696|85.29%
View allfamilies AWK 17 rs5021700
dbSNP Clinvar 		21319989 1004.41 C T,A PASS 0/2 397 None None None 0.50040 0.50040 None None None None None None KCNJ12|0.437556296|18.82%
View allfamilies AWK 19 . 2514966 94.52 CA... CA... PASS 0/2 30 None None None None None None None None None GNG7|0.058755957|60.21%
View allfamilies AWK 19 rs8113569
dbSNP Clinvar 		3148819 104.61 G C,T PASS 0/2 42 None None None 0.60104 0.60100 0.45343 None None None None None None GNA15|0.16842726|40.52%
  • Page 1 of 1