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EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
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FREQUENCIES

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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

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EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

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CADD

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MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

ALK, BRCA1, BRCA2, BRIP1, BUB1B, CDH1, CYLD, DDB2, DIS3L2, EGFR, ERCC4, ERCC5, EXT1, FANCD2, FANCE, FANCI, GATA2, HNF1A, MEN1, MET, MSH6, NF1, NSD1, PMS2, PRF1, PTCH1, RECQL4, RET, SDHB, SLX4, SMARCB1, TMEM127, TSC1, WT1, XPC,
ALK {Neuroblastoma, susceptibility to, 3}, 613014 (3)
BRCA1 {Breast-ovarian cancer, familial, 1}, 604370 (3)
{Pancreatic cancer, susceptibility to, 4}, 614320 (3)
BRCA2 Fanconi anemia, complementation group D1, 605724 (3)
Wilms tumor, 194070 (3)
{Breast cancer, male, susceptibility to}, 114480 (3)
{Breast-ovarian cancer, familial, 2}, 612555 (3)
{Glioblastoma 3}, 613029 (3)
{Medulloblastoma}, 155255 (3)
{Pancreatic cancer 2}, 613347 (3)
{Prostate cancer}, 176807 (3)
BRIP1 Breast cancer, early-onset, 114480 (3)
Fanconi anemia, complementation group J, 609054 (3)
BUB1B Colorectal cancer, somatic, 114500 (3)
Mosaic variegated aneuploidy syndrome 1, 257300 (3)
[Premature chromatid separation trait], 176430 (3)
CDH1 Endometrial carcinoma, somatic, 608089 (3)
Gastric cancer, familial diffuse, with or without cleft lip and/or palate, 137215 (3)
Ovarian carcinoma, somatic, 167000 (3)
{Breast cancer, lobular}, 114480 (3)
{Prostate cancer, susceptibility to}, 176807 (3)
CYLD Brooke-Spiegler syndrome, 605041 (3)
Cylindromatosis, familial, 132700 (3)
Trichoepithelioma, multiple familial, 1, 601606 (3)
DDB2 Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3)
DIS3L2 Perlman syndrome, 267000 (3)
EGFR ?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3)
Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3)
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)
{Nonsmall cell lung cancer, susceptibility to}, 211980 (3)
ERCC4 ?XFE progeroid syndrome, 610965 (3)
Fanconi anemia, complementation group Q, 615272 (3)
Xeroderma pigmentosum, group F, 278760 (3)
Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 (3)
ERCC5 Cerebrooculofacioskeletal syndrome 3, 616570 (3)
Xeroderma pigmentosum, group G, 278780 (3)
Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3)
EXT1 Chondrosarcoma, 215300 (3)
Exostoses, multiple, type 1, 133700 (3)
FANCD2 Fanconi anemia, complementation group D2, 227646 (3)
FANCE Fanconi anemia, complementation group E, 600901 (3)
FANCI Fanconi anemia, complementation group I, 609053 (3)
GATA2 Emberger syndrome, 614038 (3)
Immunodeficiency 21, 614172 (3)
{Leukemia, acute myeloid, susceptibility to}, 601626 (3)
{Myelodysplastic syndrome, susceptibility to}, 614286 (3)
HNF1A Diabetes mellitus, insulin-dependent, 20, 612520 (3)
Hepatic adenoma, somatic, 142330 (3)
MODY, type III, 600496 (3)
Renal cell carcinoma, 144700 (3)
{Diabetes mellitus, insulin-dependent}, 222100 (3)
{Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3)
MEN1 Adrenal adenoma, somatic (3)
Angiofibroma, somatic (3)
Carcinoid tumor of lung (3)
Lipoma, somatic (3)
Multiple endocrine neoplasia 1, 131100 (3)
Parathyroid adenoma, somatic (3)
MET ?Deafness, autosomal recessive 97, 616705 (3)
Hepatocellular carcinoma, childhood type, somatic, 114550 (3)
Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3)
{Osteofibrous dysplasia, susceptibility to}, 607278 (3)
MSH6 Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3)
Endometrial cancer, familial, 608089 (3)
Mismatch repair cancer syndrome, 276300 (3)
NF1 Leukemia, juvenile myelomonocytic, 607785 (3)
Neurofibromatosis, familial spinal, 162210 (3)
Neurofibromatosis, type 1, 162200 (3)
Neurofibromatosis-Noonan syndrome, 601321 (3)
Watson syndrome, 193520 (3)
NSD1 Beckwith-Wiedemann syndrome, 130650 (3)
Leukemia, acute myeloid, 601626 (1)
Sotos syndrome 1, 117550 (3)
PMS2 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
Mismatch repair cancer syndrome, 276300 (3)
PRF1 Aplastic anemia, 609135 (3)
Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)
Lymphoma, non-Hodgkin, 605027 (3)
PTCH1 Basal cell carcinoma, somatic, 605462 (3)
Basal cell nevus syndrome, 109400 (3)
Holoprosencephaly 7, 610828 (3)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
RET Central hypoventilation syndrome, congenital, 209880 (3)
Medullary thyroid carcinoma, 155240 (3)
Multiple endocrine neoplasia IIA, 171400 (3)
Multiple endocrine neoplasia IIB, 162300 (3)
Pheochromocytoma, 171300 (3)
{Hirschsprung disease, susceptibility to, 1}, 142623 (3)
SDHB Cowden syndrome 2, 612359 (3)
Gastrointestinal stromal tumor, 606764 (3)
Paraganglioma and gastric stromal sarcoma, 606864 (3)
Paragangliomas 4, 115310 (3)
Pheochromocytoma, 171300 (3)
SLX4 Fanconi anemia, complementation group P, 613951 (3)
SMARCB1 Coffin-Siris syndrome 3, 614608 (3)
Rhabdoid tumors, somatic, 609322 (3)
{Rhabdoid predisposition syndrome 1}, 609322 (3)
{Schwannomatosis-1, susceptibility to}, 162091 (3)
TMEM127 {Pheochromocytoma, susceptibility to}, 171300 (3)
TSC1 Lymphangioleiomyomatosis, 606690 (3)
Tuberous sclerosis-1, 191100 (3)
WT1 Denys-Drash syndrome, 194080 (3)
Frasier syndrome, 136680 (3)
Meacham syndrome, 608978 (3)
Mesothelioma, somatic, 156240 (3)
Nephrotic syndrome, type 4, 256370 (3)
Wilms tumor, type 1, 194070 (3)
XPC Xeroderma pigmentosum, group C, 278720 (3)

Genes at Clinical Genomics Database

ALK, BRCA1, BRCA2, BRIP1, BUB1B, CDH1, CYLD, DDB2, DIS3L2, EGFR, ERCC4, ERCC5, EXT1, FANCD2, FANCE, FANCI, FANCL, FANCM, GATA2, HNF1A, MEN1, MET, MSH6, NF1, NSD1, PMS2, PRF1, PTCH1, RECQL4, RET, SDHB, SLX4, SMARCB1, TMEM127, TSC1, WRN, WT1, XPC,
ALK Neuroblastoma, susceptibility to, 3
BRCA1 Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA2 Medulloblastoma
Wilms tumor
Fanconi anemia, complementation group D1
Glioma susceptibility 3
Pancreatic cancer, susceptibility to, 2
Breast-ovarian cancer, familial, susceptibility to
BRIP1 Fanconi anemia, complementation group J
Breast cancer
BUB1B Premature chromatid separation trait
Mosaic variegated aneuploidy syndrome
CDH1 CDH1-related cancer
CYLD Cylindromatosis, familial
Trichoepithelioma, multiple familial, 1
Spiegler-Brooke syndrome
DDB2 Xeroderma pigmentosum, group E
DIS3L2 Perlman syndrome
EGFR Inflammatory skin and bowel disease, neonatal, 2
Lung cancer, familial, susceptibilty to
Acute myeloid leukemia, familial
ERCC4 Xeroderma pigmentosum, group F
Fanconi anemia, complementation group Q
ERCC5 Xeroderma pigmentosum, group G/Cockayne syndrome
Xeroderma pigmentosum, group G
EXT1 Exostoses, multiple, type 1
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia type L
FANCM Fanconi anemia type M
GATA2 Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia
Acute myeloid leukemia, familial
Myelodysplastic syndrome
Emberger syndrome
Immunodeficiency 21
HNF1A Maturity onset diabetes of the young, type III
Liver adenomatosis
Renal cell carcinoma, nonpapillary clear cell
MEN1 Hyperparathyroidism, familial primary
Multiple endocrine neoplasia type I
MET Deafness, autosomal recessive 97
Renal cell carcinoma, papillary
MSH6 Endometrial cancer
Mismatch repair cancer syndrome
Colorectal cancer, hereditary nonpolyposis type 5
NF1 Watson syndrome
Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome
NSD1 Beckwith-Wiedemann syndrome
Weaver syndrome
Sotos syndrome
PMS2 Mismatch repair cancer syndrome
Colorectal cancer, hereditary nonpolyposis type 4
PRF1 Aplastic anemia, adult-onset
Lymphoma, non-Hodgkin
Hemophagocytic lymphohistiocytosis, familial, 2
PTCH1 Basal cell nevus syndrome
RECQL4 Rothmund-Thomson syndrome
RAPADILINO syndrome
Baller-Gerold syndrome
RET Hirschsprung disease, susceptibility to 1
Pheochromocytoma
Medullary thyroid carcinoma, familial
Multiple endocrine neoplasia IIB
Multiple endocrine neoplasia, type IIA
Central hypoventilation syndrome, congenital
SDHB Paragangliomas 4
Pheochromocytoma
Gastrointestinal stromal tumor
Paraganglioma and gastric stromal sarcoma
Cowden-like syndrome
SLX4 Fanconi anemia type P
SMARCB1 Rhabdoid tumor predisposition syndrome
Schwannomatosis
TMEM127 Pheochromocytoma
TSC1 Lymphangioleiomyomatosis
Tuberous sclerosis
WRN Werner syndrome
WT1 Frasier syndrome
Wilms tumor, type 1
Denys-Drash syndrome
XPC Xeroderma pigmentosum, group C

Genes at HGMD

Summary

Number of Variants: 83
Number of Genes: 40

Export to: CSV

ADH7

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 pc751_s1 4 rs971074
dbSNP
100341861 1129.93 C T PASS 0/1 110 SYNONYMOUS_CODING LOW SILENT 0.11981 0.11980 0.13755 None None None None None None None

ALK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 2 rs4358080
dbSNP
30143499 2626.07 G C PASS 1/1 86 SYNONYMOUS_CODING LOW SILENT 0.89377 0.89380 0.09071 None None None None None None None
View pc751_s1 2 rs2246745
dbSNP
29940529 2024.66 A T PASS 1/1 83 SYNONYMOUS_CODING LOW SILENT 0.58926 0.58930 0.37298 None None None None None None None
View pc751_s1 2 rs2256740
dbSNP
29455267 1730.0 A G PASS 1/1 60 SYNONYMOUS_CODING LOW SILENT 0.50000 0.50000 0.33861 None None None None None None None
View pc751_s1 2 rs2293564
dbSNP
29543663 409.5 T C PASS 0/1 35 SYNONYMOUS_CODING LOW SILENT 0.77656 0.77660 0.20906 None None None None None None None

BRCA1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 17 rs1060915
dbSNP
41234470 1141.83 A G PASS 0/1 114 SYNONYMOUS_CODING LOW SILENT 0.33626 0.33630 0.27956 None None None None None None None
View pc751_s1 17 rs1799949
dbSNP
41245466 2144.47 G A PASS 0/1 165 SYNONYMOUS_CODING LOW SILENT 0.33646 0.33650 0.29568 None None None None None None None
View pc751_s1 17 rs16940
dbSNP
41245237 904.32 A G PASS 0/1 89 SYNONYMOUS_CODING LOW SILENT 0.33526 0.33530 0.27764 None None None None None None None

BRCA2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 13 rs1799955
dbSNP
32929232 854.65 A G PASS 0/1 61 SYNONYMOUS_CODING LOW SILENT 0.23263 0.23260 0.21136 None None None None None None None
View pc751_s1 13 rs1801406
dbSNP
32911888 1095.0 A G PASS 0/1 116 SYNONYMOUS_CODING LOW SILENT 0.26677 0.26680 0.27984 None None None None None None None
View pc751_s1 13 rs543304
dbSNP
32912299 1771.58 T C PASS 0/1 130 SYNONYMOUS_CODING LOW SILENT 0.16813 0.16810 0.19111 None None None None None None None
View pc751_s1 13 rs206075
dbSNP
32913055 4119.29 A G PASS 1/1 147 SYNONYMOUS_CODING LOW SILENT 0.97404 0.97400 0.02423 None None None None None None None
View pc751_s1 13 rs206076
dbSNP
32915005 3483.35 G C PASS 1/1 108 SYNONYMOUS_CODING LOW SILENT 0.00040 0.97360 0.02453 None None None None None None None

BRIP1

Omim - GeneCards - NCBI
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RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 17 rs4986765
dbSNP
59763465 938.61 T C PASS 0/1 112 SYNONYMOUS_CODING LOW SILENT 0.81510 0.81510 0.26572 None None None None None None None
View pc751_s1 17 rs4986763
dbSNP
59760996 2175.89 A G PASS 0/1 205 SYNONYMOUS_CODING LOW SILENT 0.62081 0.62080 0.39396 None None None None None None None

BUB1B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 15 rs1047130
dbSNP
40488851 1613.32 G A PASS 0/1 134 SYNONYMOUS_CODING LOW SILENT 0.19070 0.19070 0.22643 None None None None None None None

CDH1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 16 rs1801552
dbSNP
68857441 2021.77 T C PASS 1/1 72 SYNONYMOUS_CODING LOW SILENT 0.71865 0.71870 0.28386 None None None None None None None

CYLD

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 16 rs2066852
dbSNP
50827518 951.86 C T PASS 0/1 89 SYNONYMOUS_CODING LOW SILENT 0.07907 0.07907 0.06304 None None None None None None None

DDB2

Omim - GeneCards - NCBI
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RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 11 rs326212
dbSNP
47238522 3194.64 T C PASS 1/1 129 SYNONYMOUS_CODING LOW SILENT 0.99421 0.99420 0.00469 None None None None None None None

DIS3L2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 2 rs3811578
dbSNP
233201328 244.19 A G PASS 0/1 25 SYNONYMOUS_CODING LOW SILENT 0.20208 0.20210 0.09947 None None None None None None None

EGFR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 7 rs1140475
dbSNP
55266417 2758.95 T C PASS 1/1 103 SYNONYMOUS_CODING LOW SILENT 0.91673 0.91670 0.11095 None None None None None None None
View pc751_s1 7 rs1050171
dbSNP
55249063 1043.31 G A PASS 0/1 94 SYNONYMOUS_CODING LOW SILENT 0.43271 0.43270 0.45756 None None None None None None None
View pc751_s1 7 rs2227984
dbSNP
55238874 1045.45 T A PASS 0/1 108 SYNONYMOUS_CODING LOW SILENT 0.39038 0.39040 0.32247 None None None None None None None
View pc751_s1 7 rs2072454
dbSNP
55214348 625.1 C T PASS 0/1 72 SYNONYMOUS_CODING LOW SILENT 0.47544 0.47540 0.48485 None None None None None None None

ERCC4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 16 rs2020953
dbSNP
14041916 846.49 A G PASS 0/1 74 SYNONYMOUS_CODING LOW SILENT 0.00579 0.00579 0.00924 None None None None None None None

ERCC5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 13 rs1047768
dbSNP
103504517 2773.0 T C PASS 0/1 214 SYNONYMOUS_CODING LOW SILENT 0.49301 0.49300 0.38821 None None None None None None None

EXT1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 8 rs7837891
dbSNP
118819578 3204.61 C T PASS 1/1 123 SYNONYMOUS_CODING LOW SILENT 0.33846 0.33850 0.35107 None None None None None None None
View pc751_s1 8 rs17439693
dbSNP
118832020 315.18 G A PASS 0/1 44 SYNONYMOUS_CODING LOW SILENT 0.12021 0.12020 0.16431 None None None None None None None
View pc751_s1 8 rs11546829
dbSNP
118847782 513.66 G A PASS 0/1 62 SYNONYMOUS_CODING LOW SILENT 0.17392 0.17390 0.24604 None None None None None None None

FANCD2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 3 rs72492997
dbSNP
10088266 400.68 G T PASS 0/1 65 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT None None None None None None None
View pc751_s1 3 rs112887807
dbSNP
10088299 590.73 C T PASS 0/1 95 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View pc751_s1 3 rs12330369
dbSNP
10089723 1919.91 G A PASS 0/1 350 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View pc751_s1 3 rs764447374
dbSNP
10088404 200.86 C T PASS 0/1 57 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View pc751_s1 3 rs72492998
dbSNP
10088308 591.34 T C PASS 0/1 110 SYNONYMOUS_CODING LOW SILENT None None None None None None None

FANCE

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 6 rs3823434
dbSNP
35426175 554.83 C T PASS 0/1 62 SYNONYMOUS_CODING LOW SILENT 0.05831 0.05831 0.01784 None None None None None None None
View pc751_s1 6 rs4713867
dbSNP
35423662 1582.63 A C PASS 0/1 166 SYNONYMOUS_CODING LOW SILENT 0.77796 0.77800 0.26434 None None None None None None None

FANCI

Omim - GeneCards - NCBI
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Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 15 rs7183618
dbSNP
89838236 705.76 G A PASS 0/1 49 SYNONYMOUS_CODING LOW SILENT 0.98083 0.98080 0.03993 None None None None None None None

FANCL

Omim - GeneCards - NCBI
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Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 2 rs848291
dbSNP
58388696 2738.19 A G PASS 1/1 108 SYNONYMOUS_CODING LOW SILENT 0.70647 0.70650 0.29591 None None None None None None None

FANCM

Omim - GeneCards - NCBI
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Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 14 rs8018014
dbSNP
45669205 1838.68 T C PASS 0/1 164 SYNONYMOUS_CODING LOW SILENT 0.02816 0.02815 0.03139 None None None None None None None

GATA2

Omim - GeneCards - NCBI
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Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 3 rs1573858
dbSNP
128205860 243.59 G C PASS 0/1 32 SYNONYMOUS_CODING LOW SILENT 0.70986 0.70990 0.30661 None None None None None None None

HNF1A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 12 rs1169289
dbSNP
121416622 311.61 C G PASS 0/1 46 SYNONYMOUS_CODING LOW SILENT 0.42851 0.42850 0.41748 None None None None None None None
View pc751_s1 12 rs55834942
dbSNP
121437114 456.22 G A PASS 0/1 43 SYNONYMOUS_CODING LOW SILENT 0.06290 0.06290 0.14065 None None None None None None None
View pc751_s1 12 rs2259820
dbSNP
121435342 495.81 C T PASS 0/1 93 SYNONYMOUS_CODING LOW SILENT 0.31669 0.31670 0.24639 None None None None None None None
View pc751_s1 12 rs56348580
dbSNP
121432117 840.92 G C PASS 0/1 106 SYNONYMOUS_CODING LOW SILENT 0.18111 0.18110 0.23577 None None None None None None None

MEN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 11 rs540012
dbSNP
64572557 2331.17 A G PASS 1/1 89 SYNONYMOUS_CODING LOW SILENT 0.97604 0.97600 0.02385 None None None None None None None

MET

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 7 rs2023748
dbSNP
116436022 552.16 G A PASS 0/1 46 SYNONYMOUS_CODING LOW SILENT 0.35383 0.35380 0.32250 None None None None None None None
View pc751_s1 7 rs41737
dbSNP
116436097 445.47 G A PASS 0/1 44 SYNONYMOUS_CODING LOW SILENT 0.35463 0.35460 0.32105 None None None None None None None
View pc751_s1 7 rs41736
dbSNP
116435768 1109.5 C T PASS 0/1 84 SYNONYMOUS_CODING LOW SILENT 0.35224 0.35220 0.32350 None None None None None None None
View pc751_s1 7 rs13223756
dbSNP
116397572 610.99 A G PASS 0/1 47 SYNONYMOUS_CODING LOW SILENT 0.18790 0.18790 0.16871 None None None None None None None

MSH6

Omim - GeneCards - NCBI
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View pc751_s1 2 rs1800935
dbSNP
48023115 1067.08 T C PASS 0/1 93 SYNONYMOUS_CODING LOW SILENT 0.13518 0.13520 0.25065 None None None None None None None
View pc751_s1 2 rs1800932
dbSNP
48018081 2134.25 A G PASS 0/1 158 SYNONYMOUS_CODING LOW SILENT 0.08666 0.08666 0.16523 None None None None None None None
View pc751_s1 2 rs1042820
dbSNP
48010558 84.6 C A SB 0/1 18 SYNONYMOUS_CODING LOW SILENT 0.06909 0.06909 0.11665 None None None None None None None

MYNN

Omim - GeneCards - NCBI
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View pc751_s1 3 rs10936599
dbSNP
169492101 944.36 C T PASS 0/1 116 SYNONYMOUS_CODING LOW SILENT 0.27057 0.27060 0.18707 None None None None None None None

NF1

Omim - GeneCards - NCBI
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View pc751_s1 17 rs1801052
dbSNP
29508775 2420.2 G A PASS 1/1 86 SYNONYMOUS_CODING LOW SILENT 0.51178 0.51180 0.42560 None None None None None None None
View pc751_s1 17 rs371581213
dbSNP
29667627 851.74 G A PASS 0/1 97 SYNONYMOUS_CODING LOW SILENT 0.00015 None None None None None None None

NSD1

Omim - GeneCards - NCBI
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View pc751_s1 5 rs1363405
dbSNP
176636882 1937.62 C T PASS 0/1 179 SYNONYMOUS_CODING LOW SILENT 0.46805 0.46810 0.35414 None None None None None None None
View pc751_s1 5 rs28580074
dbSNP
176721198 6956.4 T C PASS 1/1 246 SYNONYMOUS_CODING LOW SILENT 0.77137 0.77140 0.10103 None None None None None None None
View pc751_s1 5 rs28932181
dbSNP
176639105 826.01 T C PASS 0/1 89 SYNONYMOUS_CODING LOW SILENT 0.10563 0.10560 0.11402 None None None None None None None

PMS2

Omim - GeneCards - NCBI
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View pc751_s1 7 rs1805319
dbSNP
6036980 2195.09 G C PASS 0/1 157 SYNONYMOUS_CODING LOW SILENT 0.83127 0.83130 0.17623 None None None None None None None

PRF1

Omim - GeneCards - NCBI
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View pc751_s1 10 rs885822
dbSNP
72358577 6537.81 G A PASS 1/1 255 SYNONYMOUS_CODING LOW SILENT 0.69589 0.69590 0.33761 None None None None None None None
View pc751_s1 10 rs115281140
dbSNP
72360224 1176.32 C T PASS 0/1 132 SYNONYMOUS_CODING LOW SILENT 0.01278 0.01278 0.01223 None None None None None None None
View pc751_s1 10 rs116554195
dbSNP
72360197 647.82 T C PASS 0/1 92 SYNONYMOUS_CODING LOW SILENT 0.01518 0.01518 0.01584 None None None None None None None

PTCH1

Omim - GeneCards - NCBI
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View pc751_s1 9 rs1805155
dbSNP
98238379 791.4 A G PASS 0/1 48 SYNONYMOUS_CODING LOW SILENT 0.11162 0.11160 0.13094 None None None None None None None

RECQL4

Omim - GeneCards - NCBI
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View pc751_s1 8 rs4925828
dbSNP
145737636 4279.19 A G PASS 1/1 178 SYNONYMOUS_CODING LOW SILENT 0.94609 0.94610 0.00159 None None None None None None None

RET

Omim - GeneCards - NCBI
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View pc751_s1 10 rs1800861
dbSNP
43613843 2711.91 G T PASS 1/1 109 SYNONYMOUS_CODING LOW SILENT 0.71246 0.71250 0.19737 None None None None None None None
View pc751_s1 10 rs1800860
dbSNP
43606687 1823.57 A G PASS 0/1 158 SYNONYMOUS_CODING LOW SILENT 0.77516 0.77520 0.25142 None None None None None None None
View pc751_s1 10 rs1800863
dbSNP
43615633 341.25 C G PASS 0/1 46 SYNONYMOUS_CODING LOW SILENT 0.17252 0.17250 0.16095 None None None None None None None
View pc751_s1 10 rs1800858
dbSNP
43595968 2961.95 A G PASS 1/1 110 SYNONYMOUS_CODING LOW SILENT 0.75359 0.75360 0.19084 None None None None None None None

SDHB

Omim - GeneCards - NCBI
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View pc751_s1 1 rs2746462
dbSNP
17380497 1441.67 G T PASS 1/1 59 SYNONYMOUS_CODING LOW SILENT 0.95707 0.95710 0.04853 None None None None None None None

SLX4

Omim - GeneCards - NCBI
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View pc751_s1 16 rs78635099
dbSNP
3639058 1649.66 C T PASS 0/1 141 SYNONYMOUS_CODING LOW SILENT 0.02196 0.02196 0.02116 None None None None None None None
View pc751_s1 16 rs3810812
dbSNP
3639139 2570.0 A G PASS 1/1 93 SYNONYMOUS_CODING LOW SILENT 0.73962 0.73960 0.37340 None None None None None None None
View pc751_s1 16 rs116781836
dbSNP
3639676 2153.86 C T PASS 0/1 190 SYNONYMOUS_CODING LOW SILENT 0.01518 0.01518 0.00647 None None None None None None None
View pc751_s1 16 rs77699867
dbSNP
3639856 1999.19 C T PASS 0/1 167 SYNONYMOUS_CODING LOW SILENT 0.02196 0.02196 0.02094 None None None None None None None

SMARCB1

Omim - GeneCards - NCBI
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View pc751_s1 22 rs2229354
dbSNP
24167513 1485.14 G A PASS 0/1 116 SYNONYMOUS_CODING LOW SILENT 0.10523 0.10520 0.10649 None None None None None None None

TMEM127

Omim - GeneCards - NCBI
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View pc751_s1 2 rs3852673
dbSNP
96919642 181.3 C T LowGQ;LowGQX;SB 0/1 7 SYNONYMOUS_CODING LOW SILENT 0.13938 0.13940 0.13871 None None None None None None None

TSC1

Omim - GeneCards - NCBI
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View pc751_s1 9 rs4962081
dbSNP
135772717 2197.39 G A PASS 0/1 147 SYNONYMOUS_CODING LOW SILENT 0.06210 0.06210 0.08481 None None None None None None None

WRN

Omim - GeneCards - NCBI
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View pc751_s1 8 rs1800389
dbSNP
30924557 1740.4 C T PASS 0/1 141 SYNONYMOUS_CODING LOW SILENT 0.68730 0.68730 0.34630 None None None None None None None
View pc751_s1 8 rs1801196
dbSNP
31024638 4151.98 C T PASS 1/1 157 SYNONYMOUS_CODING LOW SILENT 0.27356 0.27360 0.28210 None None None None None None None

WT1

Omim - GeneCards - NCBI
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View pc751_s1 11 rs16754
dbSNP
32417945 396.49 T C PASS 0/1 48 SYNONYMOUS_CODING LOW SILENT 0.33147 0.33150 0.13029 None None None None None None None
View pc751_s1 11 rs1799925
dbSNP
32456562 118.89 G A PASS 0/1 26 SYNONYMOUS_CODING LOW SILENT 0.30391 0.30390 None None None None None None None

XPC

Omim - GeneCards - NCBI
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View pc751_s1 3 rs2958057
dbSNP
14197987 3050.82 A T PASS 1/1 110 SYNONYMOUS_CODING LOW SILENT 1.00000 1.00000 None None None None None None None
View pc751_s1 3 rs2227998
dbSNP
14193889 1589.97 C T PASS 0/1 148 SYNONYMOUS_CODING LOW SILENT 0.23542 0.23540 0.26583 None None None None None None None
Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pc751_s1 8 rs2294008
dbSNP
143761931 614.58 C T PASS 0/1 54 START_GAINED LOW 0.40515 0.40520 0.41872 None None None None None None None