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SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

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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
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+ Genes 3

Genes:
BRCA1, BRCA2, CFTR,

+ Genes associated with diseases 3

Genes at Omim

BRCA1, BRCA2, CFTR,
BRCA1 {Breast-ovarian cancer, familial, 1}, 604370 (3)
{Pancreatic cancer, susceptibility to, 4}, 614320 (3)
Fanconi anemia, complementation group S, 617883 (3)
BRCA2 {Breast-ovarian cancer, familial, 2}, 612555 (3)
{Glioblastoma 3}, 613029 (3)
{Medulloblastoma}, 155255 (3)
{Pancreatic cancer 2}, 613347 (3)
{Prostate cancer}, 176807 (3)
Fanconi anemia, complementation group D1, 605724 (3)
Wilms tumor, 194070 (3)
{Breast cancer, male, susceptibility to}, 114480 (3)
CFTR {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)
{Hypertrypsinemia, neonatal} (3)
Congenital bilateral absence of vas deferens, 277180 (3)
Cystic fibrosis, 219700 (3)
{Pancreatitis, hereditary}, 167800 (3)
Sweat chloride elevation without CF (3)

Genes at Clinical Genomics Database

BRCA1, BRCA2, CFTR,
BRCA1 Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
BRCA2 Breast-ovarian cancer, familial, susceptibility to
Pancreatic cancer, susceptibility to, 2
Glioma susceptibility 3
Fanconi anemia, complementation group D1
Wilms tumor
Medulloblastoma
CFTR Cystic fibrosis

Genes at HGMD

Summary

Number of Variants: 114
Number of Genes: 3

Export to: CSV

BRCA1
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 1_s1 genome 17 . 41246605 1041.52 T A LowVariantFreq 0/1 331 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.96 None None None None None None None
View 1_s1 genome 17 . 41246600 239.86 G T LowVariantFreq 0/1 321 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.48 None None None None None None None

BRCA2
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 1_s1 genome 13 . 32910602 259.64 C A LowVariantFreq 0/1 115 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.34 None None None None None None None
View 1_s1 genome 13 . 32911258 494.5 C G PASS 0/1 114 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None None
View 1_s1 genome 13 . 32911259 491.49 A G PASS 0/1 114 NON_SYNONYMOUS_CODING MODERATE None 0.50 0.01 None None None None None None None
View 1_s1 genome 13 rs1801406
dbSNP Clinvar 		32911888 754.63 A G PASS 0/1 93 SYNONYMOUS_CODING LOW None 0.26677 0.26680 0.27984 None None None None None None None
View 1_s1 genome 13 . 32929184 443.62 T C PASS 0/1 74 SYNONYMOUS_CODING LOW None None None None None None None None
View 1_s1 genome 13 rs206075
dbSNP Clinvar 		32913055 5220.89 A G PASS 1/1 188 SYNONYMOUS_CODING LOW None 0.97404 0.97400 0.02423 None None None None None None None
View 1_s1 genome 13 rs144848
dbSNP Clinvar 		32906729 850.65 A C PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.24940 0.24940 0.23321 0.06 0.86 None None None None None None None
View 1_s1 genome 13 rs206076
dbSNP Clinvar 		32915005 1812.97 G C PASS 1/1 61 SYNONYMOUS_CODING LOW None 0.00040 0.97360 0.02453 None None None None None None None
View 1_s1 genome 13 rs1799955
dbSNP Clinvar 		32929232 5826.14 A G PASS 0/1 484 SYNONYMOUS_CODING LOW None 0.23263 0.23260 0.21136 None None None None None None None
View 1_s1 genome 13 rs169547
dbSNP Clinvar 		32929387 19210.05 T C PASS 1/1 756 NON_SYNONYMOUS_CODING MODERATE None 0.97584 0.97580 0.02230 1.00 0.00 None None None None None None None
View 1_s1 genome 13 rs878853609
dbSNP Clinvar 		32944572 4.6 T C LowGQX 0/1 7 NON_SYNONYMOUS_CODING MODERATE None 0.29 0.86 None None None None None None None
View 1_s1 genome 13 . 32912516 3.99 A T LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.87 None None None None None None None
View 1_s1 genome 13 . 32912595 4.59 T C LowGQX 0/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.21 0.27 None None None None None None None

CFTR
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 1_s1 genome 7 . 117144352 6.74 A G LowGQX 0/1 5 SYNONYMOUS_CODING LOW None 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 1_s1 genome 13 rs9534262
dbSNP Clinvar 		32936646 8237.33 T C PASS 0/1 581 None None None 0.53155 0.53150 0.47985 None None None None None None None
View 1_s1 genome 13 . 32936945 102.27 C G LowGQX;LowGQ 1/1 6 None None None None None None None None None None
View 1_s1 genome 13 . 32937844 298.03 G T LowGQ 1/1 12 None None None None None None None None None None
View 1_s1 genome 13 . 32973049 318.6 T G LowGQ 1/1 11 None None None None None None None None None None
View 1_s1 genome 17 . 41197494 14.92 T C LowGQX;LowGQ 1/1 2 None None None None None None None None None None
View 1_s1 genome 17 . 41197498 3.99 A C LowGQX 0/1 3 None None None None None None None None None None
View 1_s1 genome 17 . 41197882 175.53 C T LowGQ 1/1 8 None None None None None None None None None None
View 1_s1 genome 17 . 41199759 175.5 A T LowGQ 1/1 9 None None None None None None None None None None
View 1_s1 genome 17 . 41201039 412.66 G A PASS 1/1 17 None None None None None None None None None None
View 1_s1 genome 17 . 41201290 458.84 A T PASS 0/1 30 None None None None None None None None None None
View 1_s1 genome 17 . 41201291 39.72 T G PASS 0/1 5 None None None None None None None None None None
View 1_s1 genome 17 . 41202968 138.8 C A LowGQ 1/1 7 None None None None None None None None None None
View 1_s1 genome 17 . 41209245 11.55 G T LowGQX;LowGQ 1/1 1 None None None None None None None None None None
View 1_s1 genome 17 . 41215240 7.78 A C LowGQX;LowGQ 1/1 1 None None None None None None None None None None
View 1_s1 genome 17 . 41215510 14.92 C T LowGQX;LowGQ 1/1 2 None None None None None None None None None None
View 1_s1 genome 17 . 41219570 93.63 C A LowGQX;LowGQ 1/1 5 None None None None None None None None None None
View 1_s1 genome 17 . 41226288 44.2 T C LowGQX;LowGQ 1/1 2 None None None None None None None None None None
View 1_s1 genome 17 . 41226289 92.75 T C LowGQX;LowGQ 1/1 4 None None None None None None None None None None
View 1_s1 genome 17 . 41228669 7.48 T A LowGQX;LowVariantFreq 0/1 28 None None None None None None None None None None
View 1_s1 genome 17 . 41243248 165.42 A T LowGQ 1/1 6 None None None None None None None None None None
View 1_s1 genome 1 . 151380066 158.39 A G LowVariantFreq 0/1 264 None None None None None None None None None None
View 1_s1 genome 1 rs12408139
dbSNP Clinvar 		151380508 9351.48 G A PASS 0/1 342 None None None None None None None None None None
View 1_s1 genome 1 rs2025899
dbSNP Clinvar 		151380727 19273.37 A G PASS 0/1 851 None None None 0.07408 0.07408 0.09657 None None None None None None None
View 1_s1 genome 1 . 151381549 3.48 T C LowGQX;LowVariantFreq 0/1 54 None None None None None None None None None None
View 1_s1 genome 1 . 151381554 136.92 T C PASS 0/1 9 None None None None None None None None None None
View 1_s1 genome 1 . 151383828 316.91 A AG PASS 0/1 37 None None None None None None None None None None
View 1_s1 genome 1 rs759853119
dbSNP Clinvar 		151384052 2542.72 TA T R8 0/1 531 None None None 0.31019 None None None None None None None
View 1_s1 genome 1 . 151384053 770.37 A . PASS 0 334 None None None 0.31019 None None None None None None None
View 1_s1 genome 1 rs748256178
dbSNP Clinvar 		151384338 2705.03 T TA R8 0/1 386 None None None None None None None None None None
View 1_s1 genome 1 . 151396981 53.96 T C LowVariantFreq 0/1 72 None None None None None None None None None None
View 1_s1 genome 1 . 151397351 5.18 C G LowGQX;LowVariantFreq 0/1 37 None None None None None None None None None None
View 1_s1 genome 1 . 151401069 416.68 T C PASS 0/1 60 None None None None None None None None None None
View 1_s1 genome 1 rs148827204
dbSNP Clinvar 		151401600 2887.29 TA T R8 0/1 575 None None None 0.50939 0.50940 None None None None None None None
View 1_s1 genome 1 . 151401601 869.69 A . PASS 0 374 None None None 0.50939 0.50940 None None None None None None None
View 1_s1 genome 1 rs778483881
dbSNP Clinvar 		151401631 1357.33 TA T LowVariantFreq;R8 0/1 630 None None None None None None None None None None
View 1_s1 genome 1 . 151401632 0.0 A . PASS 0 511 None None None None None None None None None None
View 1_s1 genome 1 rs113396244
dbSNP Clinvar 		151403334 6782.45 GA G R8 0/1 1406 None None None 0.11590 None None None None None None None
View 1_s1 genome 1 . 151403335 2118.8 A . PASS 0 990 None None None 0.11590 None None None None None None None
View 1_s1 genome 1 rs751552668,rs777322689
dbSNP Clinvar 		151403380 110677.89 CT... C R8 1/1 1053 None None None None None None None None None None
View 1_s1 genome 1 . 151403381 0.0 T . LowGQX . 355 None None None None None None None None None None
View 1_s1 genome 1 . 151403382 0.0 T . LowGQX . 335 None None None None None None None None None None
View 1_s1 genome 1 . 151403383 0.0 T . LowGQX . 327 None None None None None None None None None None
View 1_s1 genome 1 . 151403384 0.0 A . LowGQX . 315 None None None None None None None None None None
View 1_s1 genome 1 . 151403385 0.0 T . LowGQX . 309 None None None None None None None None None None
View 1_s1 genome 7 rs34654194
dbSNP Clinvar 		117143718 14.92 A G LowGQX;LowGQ 1/1 2 None None None 0.04373 0.04373 None None None None None None None
View 1_s1 genome 7 . 117175579 7857.46 ATT A R8 0/1 1737 None None None None None None None None None None
View 1_s1 genome 7 . 117175580 2077.48 T . PASS 0 898 None None None None None None None None None None
View 1_s1 genome 7 . 117175581 2985.17 T . PASS 0 1309 None None None None None None None None None None
View 1_s1 genome 7 rs2299445
dbSNP Clinvar 		117246315 23942.84 A C PASS 0/1 1888 None None None 0.21625 0.21630 None None None None None None None
View 1_s1 genome 7 rs4148724
dbSNP Clinvar 		117305151 26755.32 C T PASS 0/1 1956 None None None 0.21386 0.21390 None None None None None None None
View 1_s1 genome 7 rs372350028
dbSNP Clinvar 		117307286 13377.54 GT G R8 0/1 1055 None None None 0.49800 0.49800 None None None None None None None
View 1_s1 genome 7 . 117307287 1429.11 T . PASS 0 563 None None None 0.49800 0.49800 None None None None None None None
View 1_s1 genome 13 rs1799943
dbSNP Clinvar 		32890572 860.05 G A PASS 0/1 104 None None None 0.20927 0.20930 0.20883 None None None None None None None
View 1_s1 genome 13 . 32890756 80.54 C G LowGQX;LowGQ 1/1 3 None None None None None None None None None None
View 1_s1 genome 13 . 32899058 50.51 G A LowGQX;LowGQ 1/1 3 None None None None None None None None None None
View 1_s1 genome 13 . 32900582 85.84 T A LowGQX;LowGQ 1/1 4 None None None None None None None None None None
View 1_s1 genome 13 rs3752451
dbSNP Clinvar 		32900933 2598.05 T A PASS 0/1 281 None None None 0.34824 0.34820 None None None None None None None
View 1_s1 genome 13 . 32903803 9.15 T G LowGQX;LowGQ 1/1 1 None None None None None None None None None None
View 1_s1 genome 13 rs206073
dbSNP Clinvar 		32905265 170.89 G A LowGQ 1/1 6 None None None 0.97404 0.97400 None None None None None None None
View 1_s1 genome 13 rs138193280,rs276174881,rs11571661
dbSNP Clinvar 		32915410 12036.63 CAATT C PASS 0/1 525 None None None 0.26578 0.26580 None None None None None None None
View 1_s1 genome 13 . 32915411 731.29 A . PASS 0 359 None None None 0.26578 0.26580 None None None None None None None
View 1_s1 genome 13 . 32915412 713.15 A . PASS 0 353 None None None 0.26578 0.26580 None None None None None None None
View 1_s1 genome 13 . 32915413 0.0 T G SiteConflict;LowGQX . 315 None None None 0.26578 0.26580 None None None None None None None
View 1_s1 genome 13 . 32915414 505.56 T . PASS 0 259 None None None 0.26578 0.26580 None None None None None None None
View 1_s1 genome 13 . 32918522 137.95 A C LowGQ 1/1 7 None None None None None None None None None None
View 1_s1 genome 13 . 32945021 81.35 T A LowGQX;LowGQ 1/1 3 None None None None None None None None None None
View 1_s1 genome 13 . 32945411 90.54 G T LowGQX;LowGQ 1/1 4 None None None None None None None None None None
View 1_s1 genome 13 . 32945415 50.51 C G LowGQX;LowGQ 1/1 3 None None None None None None None None None None
View 1_s1 genome 13 . 32950708 44.35 T C LowGQX;LowGQ 1/1 2 None None None None None None None None None None
View 1_s1 genome 13 . 32950709 48.77 T C LowGQX;LowGQ 1/1 2 None None None None None None None None None None
View 1_s1 genome 13 . 32951010 14.92 G T LowGQX;LowGQ 1/1 2 None None None None None None None None None None
View 1_s1 genome 13 . 32953351 4.59 C G LowGQX 0/1 8 None None None None None None None None None None
View 1_s1 genome 13 rs4942486
dbSNP Clinvar 		32953388 148.43 T C PASS 0/1 14 None None None 0.51158 0.51160 None None None None None None None
View 1_s1 genome 13 . 32953770 14.92 T A LowGQX;LowGQ 1/1 2 None None None None None None None None None None
View 1_s1 genome 13 . 32954420 14.92 C T LowGQX;LowGQ 1/1 2 None None None None None None None None None None
View 1_s1 genome 13 . 32972170 4.59 T A LowGQX 0/1 7 None None None None None None None None None None
View 1_s1 genome 17 . 41247771 49.66 G A LowGQX;LowGQ 1/1 3 None None None None None None None None None None
View 1_s1 genome 17 . 41249223 7.08 A C LowGQX;LowGQ 1/1 1 None None None None None None None None None None
View 1_s1 genome 17 rs799923
dbSNP Clinvar 		41251931 4636.86 G A PASS 0/1 431 None None None 0.09864 0.09864 0.17569 None None None None None None None
View 1_s1 genome 17 . 41252006 14.92 A T LowGQX;LowGQ 1/1 2 None None None None None None None None None None
View 1_s1 genome 17 . 41256695 10.43 C T LowGQX;LowGQ 1/1 1 None None None None None None None None None None
View 1_s1 genome 1 . 151403386 0.0 T . LowGQX . 300 None None None None None None None None None None
View 1_s1 genome 17 . 41256785 9.3 T C LowGQX 0/1 3 None None None None None None None None None None
View 1_s1 genome 1 . 151403387 0.0 T . LowGQX . 293 None None None None None None None None None None