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Genes at Omim

APC, ATM, ATR, AXIN2, BRCA1, BRCA2, BUB1B, CDH1, MEN1, MET, MLH1, MSH6, MUTYH, NBN, PALLD, PMS2, POLD1, POLE, PRSS1, RET, SMARCA4, TP53,
APC Adenoma, periampullary, somatic (3)
Adenomatous polyposis coli, 175100 (3)
Gardner syndrome, 175100 (3)
Gastric cancer, somatic, 613659 (3)
Brain tumor-polyposis syndrome 2, 175100 (3)
Hepatoblastoma, somatic, 114550 (3)
Colorectal cancer, somatic, 114500 (3)
Desmoid disease, hereditary, 135290 (3)
ATM Ataxia-telangiectasia, 208900 (3)
Lymphoma, B-cell non-Hodgkin, somatic (3)
Lymphoma, mantle cell, somatic (3)
T-cell prolymphocytic leukemia, somatic (3)
{Breast cancer, susceptibility to}, 114480 (3)
ATR ?Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3)
Seckel syndrome 1, 210600 (3)
AXIN2 Colorectal cancer, somatic, 114500 (3)
Oligodontia-colorectal cancer syndrome, 608615 (3)
BRCA1 Fanconi anemia, complementation group S, 617883 (3)
{Pancreatic cancer, susceptibility to, 4}, 614320 (3)
{Breast-ovarian cancer, familial, 1}, 604370 (3)
BRCA2 Fanconi anemia, complementation group D1, 605724 (3)
{Glioblastoma 3}, 613029 (3)
{Medulloblastoma}, 155255 (3)
{Pancreatic cancer 2}, 613347 (3)
{Prostate cancer}, 176807 (3)
Wilms tumor, 194070 (3)
{Breast cancer, male, susceptibility to}, 114480 (3)
{Breast-ovarian cancer, familial, 2}, 612555 (3)
BUB1B Colorectal cancer, somatic, 114500 (3)
Mosaic variegated aneuploidy syndrome 1, 257300 (3)
[Premature chromatid separation trait], 176430 (3)
CDH1 Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate, 137215 (3)
Blepharocheilodontic syndrome 1, 119580 (3)
Endometrial carcinoma, somatic, 608089 (3)
{Prostate cancer, susceptibility to}, 176807 (3)
Ovarian cancer, somatic, 167000 (3)
{Breast cancer, lobular}, 114480 (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 Hepatocellular carcinoma, childhood type, somatic, 114550 (3)
{Osteofibrous dysplasia, susceptibility to}, 607278 (3)
?Deafness, autosomal recessive 97, 616705 (3)
Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3)
MLH1 Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3)
Mismatch repair cancer syndrome, 276300 (3)
Muir-Torre syndrome, 158320 (3)
MSH6 Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3)
Mismatch repair cancer syndrome, 276300 (3)
{Endometrial cancer, familial}, 608089 (3)
MUTYH Adenomas, multiple colorectal, 608456 (3)
Gastric cancer, somatic, 613659 (3)
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600 (3)
NBN Aplastic anemia, 609135 (3)
Leukemia, acute lymphoblastic, 613065 (3)
Nijmegen breakage syndrome, 251260 (3)
PALLD {Pancreatic cancer, susceptibility to, 1}, 606856 (3)
PMS2 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
Mismatch repair cancer syndrome, 276300 (3)
POLD1 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 (3)
{Colorectal cancer, susceptibility to, 10}, 612591 (3)
POLE IMAGE-I syndrome, 618336 (3)
FILS syndrome, 615139 (3)
{Colorectal cancer, susceptibility to, 12}, 615083 (3)
PRSS1 Pancreatitis, hereditary, 167800 (3)
Trypsinogen deficiency, 614044 (1)
RET {Hirschsprung disease, protection against}, 142623 (3)
{Hirschsprung disease, susceptibility to, 1}, 142623 (3)
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)
SMARCA4 Coffin-Siris syndrome 4, 614609 (3)
{Rhabdoid tumor predisposition syndrome 2}, 613325 (3)
TP53 {Glioma susceptibility 1}, 137800 (3)
Bone marrow failure syndrome 5, 618165 (3)
Breast cancer, somatic, 114480 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
{Osteosarcoma}, 259500 (3)
Li-Fraumeni syndrome, 151623 (3)
Nasopharyngeal carcinoma, somatic, 607107 (3)
Pancreatic cancer, somatic 260350 (3)
{Adrenocortical carcinoma, pediatric}, 202300 (3)
{Basal cell carcinoma 7}, 614740 (3)
{Choroid plexus papilloma}, 260500 (3)
{Colorectal cancer}, 114500 (3)

Genes at Clinical Genomics Database

APC, ATM, ATR, AXIN2, BRCA1, BRCA2, BUB1B, CDH1, MEN1, MET, MLH1, MSH6, MUTYH, NBN, PMS2, POLD1, POLE, PRSS1, RET, SMARCA4, TP53,
APC Familial adenomatous polyposis
Gardner syndrome
Desmoid disease, hereditary
ATM Breast cancer, susceptibility to
Ataxia-Telangiectasia
ATR Cutaneous telangiectasia and cancer syndrome, familial
Seckel syndrome 1
AXIN2 Oligodontia-colorectal cancer syndrome
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
BUB1B Mosaic variegated aneuploidy syndrome
Premature chromatid separation trait
CDH1 CDH1-related cancer
MEN1 Multiple endocrine neoplasia type I
Hyperparathyroidism, familial primary
MET Renal cell carcinoma, papillary
Deafness, autosomal recessive 97
MLH1 Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome
Endometrial cancer
Muir-Torre syndrome
MSH6 Colorectal cancer, hereditary nonpolyposis type 5
Mismatch repair cancer syndrome
Endometrial cancer
MUTYH Familial adenomatous polyposis, 2
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas
NBN Breast cancer, susceptibility to
Nijmegen breakage syndrome
PMS2 Colorectal cancer, hereditary nonpolyposis type 4
Mismatch repair cancer syndrome
POLD1 Colorectal cancer, susceptibility to, 10
POLE Colorectal cancer, susceptibility to, 12
Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome)
PRSS1 Pancreatitis, hereditary
RET Central hypoventilation syndrome, congenital
Multiple endocrine neoplasia, type IIA
Multiple endocrine neoplasia IIB
Medullary thyroid carcinoma, familial
Pheochromocytoma
Hirschsprung disease, susceptibility to 1
SMARCA4 Rhabdoid tumor predisposition syndrome 2
TP53 Li-Fraumeni syndrome
Choroid plexus papilloma
Ependymoma, intracranial
Osteogenic sarcoma
Breast cancer, familial
Hepatoblastoma
Non-Hodgkin lymphoma
Adrenocortical carcinoma
Colorectal cancer

Genes at HGMD

Summary

Number of Variants: 58
Number of Genes: 23

Export to: CSV
  • Page 1 of 1

APC

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 dk31-akp-run025 5 rs465899
dbSNP Clinvar
112177171 200.0 G A . 0/1 453 SYNONYMOUS_CODING LOW SILENT 0.66653 0.66650 0.41309 None None None None None None APC|0.952088564|2.19%
View dk31-akp-run025 5 rs866006
dbSNP Clinvar
112176559 200.0 T G . 0/1 274 SYNONYMOUS_CODING LOW SILENT 0.66693 0.66690 0.41201 None None None None None None APC|0.952088564|2.19%
View dk31-akp-run025 5 rs42427
dbSNP Clinvar
112176325 200.0 G A . 0/1 382 SYNONYMOUS_CODING LOW SILENT 0.66673 0.66670 0.40987 None None None None None None APC|0.952088564|2.19%
View dk31-akp-run025 5 rs41115
dbSNP Clinvar
112175770 200.0 G A . 0/1 627 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH 0.66554 0.66550 0.41378 None None None None None None APC|0.952088564|2.19%
View dk31-akp-run025 5 rs459552
dbSNP Clinvar
112176756 200.0 T A . 0/1 361 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.86542 0.86540 0.17374 0.50 0.00 None None None None None None APC|0.952088564|2.19%

ATM

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 dk31-akp-run025 11 rs2235006
dbSNP Clinvar
108122700 200.0 T C . 0/1 622 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00260 0.00260 0.00062 1.00 0.00 None None None None None None ATM|0.992666029|0.97%
View dk31-akp-run025 11 . 108183193 200.0 AA... A . 0/1 269 FRAME_SHIFT HIGH None None None None None None ATM|0.992666029|0.97%,C11orf65|0.02654042|71.1%

ATR

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 dk31-akp-run025 3 rs2227931
dbSNP Clinvar
142222284 200.0 A G . 0/1 511 SYNONYMOUS_CODING LOW SILENT 0.31250 0.31250 0.34957 None None None None None None ATR|0.696057424|8.61%
View dk31-akp-run025 3 rs2227929
dbSNP Clinvar
142277536 200.0 A G . 0/1 692 SYNONYMOUS_CODING LOW SILENT 0.31070 0.31070 0.34576 None None None None None None ATR|0.696057424|8.61%
View dk31-akp-run025 3 rs2227932
dbSNP Clinvar
142217537 200.0 A G . 0/1 501 SYNONYMOUS_CODING LOW SILENT 0.06689 0.06689 0.07681 None None None None None None ATR|0.696057424|8.61%
View dk31-akp-run025 3 rs2227928
dbSNP Clinvar
142281612 200.0 A G . 0/1 342 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.59744 0.59740 0.33769 0.63 0.00 None None None None None None ATR|0.696057424|8.61%
View dk31-akp-run025 3 rs2227930
dbSNP Clinvar
142277575 200.0 A T . 0/1 346 SYNONYMOUS_CODING LOW SILENT 0.59804 0.59800 0.33700 None None None None None None ATR|0.696057424|8.61%

AXIN2

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 dk31-akp-run025 17 rs1133683
dbSNP Clinvar
63533768 200.0 G A . 0/1 300 SYNONYMOUS_CODING LOW SILENT 0.44609 0.44610 0.45993 None None None None None None AXIN2|0.837375797|4.92%
View dk31-akp-run025 17 rs9915936
dbSNP Clinvar
63533789 200.0 T C . 0/1 310 SYNONYMOUS_CODING LOW SILENT 0.90974 0.90970 0.08912 None None None None None None AXIN2|0.837375797|4.92%

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 dk31-akp-run025 17 rs1060915
dbSNP Clinvar
41234470 200.0 A G . 0/1 325 SYNONYMOUS_CODING LOW SILENT 0.33626 0.33630 0.27956 None None None None None None BRCA1|0.986984945|1.2%
View dk31-akp-run025 17 rs16942
dbSNP Clinvar
41244000 200.0 T C . 0/1 436 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35264 0.35260 0.29525 1.00 0.00 None None None None None None BRCA1|0.986984945|1.2%
View dk31-akp-run025 17 rs16941
dbSNP Clinvar
41244435 200.0 T C . 0/1 345 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33566 0.33570 0.27903 0.17 0.00 None None None None None None BRCA1|0.986984945|1.2%
View dk31-akp-run025 17 rs799917
dbSNP Clinvar
41244936 200.0 G A . 0/1 288 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.54393 0.54390 0.49316 1.00 0.00 None None None None None None BRCA1|0.986984945|1.2%
View dk31-akp-run025 17 rs16940
dbSNP Clinvar
41245237 200.0 A G . 0/1 634 SYNONYMOUS_CODING LOW SILENT 0.33526 0.33530 0.27764 None None None None None None BRCA1|0.986984945|1.2%
View dk31-akp-run025 17 rs1799949
dbSNP Clinvar
41245466 200.0 G A . 0/1 298 SYNONYMOUS_CODING LOW SILENT 0.33646 0.33650 0.29568 None None None None None None BRCA1|0.986984945|1.2%
View dk31-akp-run025 17 rs1799966
dbSNP Clinvar
41223094 200.0 T C . 0/1 647 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35583 0.35580 0.29817 0.12 0.07 None None None None None None BRCA1|0.986984945|1.2%

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 dk31-akp-run025 13 rs543304
dbSNP Clinvar
32912299 200.0 T C . 0/1 476 SYNONYMOUS_CODING LOW SILENT 0.16813 0.16810 0.19111 None None None None None None BRCA2|0.561492787|13.3%
View dk31-akp-run025 13 rs144848
dbSNP Clinvar
32906729 200.0 A C . 0/1 426 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24940 0.24940 0.23321 0.06 0.86 None None None None None None BRCA2|0.561492787|13.3%

BUB1B

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 dk31-akp-run025 15 rs1802286
dbSNP Clinvar
40510662 200.0 C T . 0/1 213 SYNONYMOUS_CODING LOW SILENT 0.00899 0.00899 0.02138 None None None None None None BUB1B|0.539848425|14.21%,PAK6|0.183662894|38.57%
View dk31-akp-run025 15 rs1801376
dbSNP Clinvar
40477831 200.0 G A . 0/1 319 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62820 0.62820 0.26403 1.00 0.00 None None None None None None BUB1B|0.539848425|14.21%

CDH1

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 dk31-akp-run025 16 rs1801552
dbSNP Clinvar
68857441 200.0 T C . 0/1 392 SYNONYMOUS_CODING LOW SILENT 0.71865 0.71870 0.28386 None None None None None None CDH1|0.998372534|0.51%
View dk31-akp-run025 16 rs33964119
dbSNP Clinvar
68862165 200.0 C T . 0/1 453 SYNONYMOUS_CODING LOW SILENT 0.05451 0.05451 0.03755 None None None None None None CDH1|0.998372534|0.51%

FAM175A

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 dk31-akp-run025 4 rs12642536
dbSNP Clinvar
84383810 200.0 C T . 0/1 511 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.41893 0.41890 0.32723 0.07 0.44 None None None None None None MRPS18C|0.088285094|53.6%,FAM175A|0.045620702|64%

MEN1

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 dk31-akp-run025 11 rs2071313
dbSNP Clinvar
64572602 200.0 G A . 0/1 594 SYNONYMOUS_CODING LOW SILENT 0.30791 0.30790 0.30402 None None None None None None MEN1|0.661753232|9.63%

MET

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 dk31-akp-run025 7 rs80153920
dbSNP Clinvar
116335811 200.0 A T . 0/1 289 None None None 0.06749 0.06749 0.00 0.00 None None None None None None MET|0.987477755|1.18%

MLH1

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 dk31-akp-run025 3 rs1799977
dbSNP Clinvar
37053568 200.0 A G . 0/1 285 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12959 0.12960 0.24297 0.33 0.06 None None None None None None MLH1|0.912358623|3.18%

MSH6

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 dk31-akp-run025 2 rs1042821
dbSNP Clinvar
48010488 200.0 G A . 0/1 271 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20088 0.20090 0.17965 1.00 0.00 None None None None None None MSH6|0.783268365|6.24%
View dk31-akp-run025 2 rs1800937
dbSNP Clinvar
48025764 200.0 C T . 0/1 179 SYNONYMOUS_CODING LOW SILENT 0.02855 0.02855 0.06912 None None None None None None MSH6|0.783268365|6.24%,FBXO11|0.866072996|4.34%
View dk31-akp-run025 2 rs1800935
dbSNP Clinvar
48023115 200.0 T C . 0/1 643 SYNONYMOUS_CODING LOW SILENT 0.13518 0.13520 0.25065 None None None None None None MSH6|0.783268365|6.24%,FBXO11|0.866072996|4.34%

MUTYH

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 dk31-akp-run025 1 rs3219489
dbSNP Clinvar
45797505 200.0 C G . 0/1 229 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.31350 0.31350 0.25412 0.08 0.29 None None None None None None MUTYH|0.140492603|44.32%

NBN

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 dk31-akp-run025 8 rs1061302
dbSNP Clinvar
90958422 200.0 T C . 0/1 250 SYNONYMOUS_CODING LOW SILENT 0.35284 0.35280 0.28419 None None None None None None NBN|0.433060118|19.03%
View dk31-akp-run025 8 rs709816
dbSNP Clinvar
90967711 200.0 A G . 0/1 407 SYNONYMOUS_CODING LOW SILENT 0.60863 0.60860 0.49031 None None None None None None NBN|0.433060118|19.03%
View dk31-akp-run025 8 rs1805794
dbSNP Clinvar
90990479 200.0 C G . 0/1 308 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35703 0.35700 0.28656 1.00 0.00 None None None None None None NBN|0.433060118|19.03%
View dk31-akp-run025 8 rs1063045
dbSNP Clinvar
90995019 200.0 C T . 0/1 383 SYNONYMOUS_CODING LOW SILENT 0.37919 0.37920 0.31316 None None None None None None NBN|0.433060118|19.03%

PALLD

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 dk31-akp-run025 4 rs72695199
dbSNP Clinvar
169433444 200.0 C T . 0/1 462 SYNONYMOUS_CODING LOW SILENT 0.05731 0.05731 0.10434 None None None None None None DDX60L|0.002204005|90.41%,PALLD|0.242896588|32.2%

PMS2

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 dk31-akp-run025 7 rs1805321
dbSNP Clinvar
6026988 200.0 G A . 0/1 552 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35823 0.35820 0.37383 0.43 0.00 None None None None None None PMS2|0.061509857|59.43%

POLD1

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 dk31-akp-run025 19 rs2230245
dbSNP Clinvar
50909765 200.0 C T . 0/1 240 SYNONYMOUS_CODING LOW SILENT 0.07748 0.07748 0.08913 None None None None None None POLD1|0.029204682|69.77%

POLE

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 dk31-akp-run025 12 rs5745022
dbSNP Clinvar
133208979 200.0 T C . 0/1 340 SYNONYMOUS_CODING LOW SILENT 0.69908 0.69910 0.35730 None None None None None None POLE|0.9999901|0.06%
View dk31-akp-run025 12 rs5744990
dbSNP Clinvar
133212582 200.0 G A . 0/1 631 SYNONYMOUS_CODING LOW SILENT 0.13399 0.13400 0.15516 None None None None None None POLE|0.9999901|0.06%
View dk31-akp-run025 12 rs5744857
dbSNP Clinvar
133236000 200.0 C T . 0/1 352 SYNONYMOUS_CODING LOW SILENT 0.60543 0.60540 0.47755 None None None None None None POLE|0.9999901|0.06%
View dk31-akp-run025 12 rs5744944
dbSNP Clinvar
133219831 200.0 T C . 0/1 185 SYNONYMOUS_CODING LOW SILENT 0.60523 0.60520 0.47763 None None None None None None POLE|0.9999901|0.06%
View dk31-akp-run025 12 rs5745068
dbSNP Clinvar
133202740 200.0 C T . 0/1 248 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00978 0.00978 0.00677 0.02 0.62 None None None None None None POLE|0.9999901|0.06%

PRSS1

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 dk31-akp-run025 7 rs6666
dbSNP Clinvar
142460313 200.0 T C . 0/1 369 SYNONYMOUS_CODING LOW SILENT 0.39657 0.39660 None None None None None None PRSS1|0.013065246|78.46%
View dk31-akp-run025 7 rs6667
dbSNP Clinvar
142460865 200.0 T C . 0/1 259 SYNONYMOUS_CODING LOW SILENT 0.39377 0.39380 None None None None None None PRSS1|0.013065246|78.46%

RET

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 dk31-akp-run025 10 rs1800861
dbSNP Clinvar
43613843 200.0 G T . 0/1 274 SYNONYMOUS_CODING LOW SILENT 0.71246 0.71250 0.19737 None None None None None None RET|0.976360102|1.58%
View dk31-akp-run025 10 rs368116579
dbSNP Clinvar
43598034 200.0 G A . 0/1 362 SYNONYMOUS_CODING LOW SILENT 0.00008 None None None None None None RET|0.976360102|1.58%

SMARCA4

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dk31-akp-run025 19 rs7275
dbSNP Clinvar
11170839 200.0 T C . 0/1 203 SYNONYMOUS_CODING LOW SILENT 0.24980 0.24980 0.25954 None None None None None None SMARCA4|0.921265936|2.95%
View dk31-akp-run025 19 rs7935
dbSNP Clinvar
11105608 200.0 T C . 0/1 392 SYNONYMOUS_CODING LOW SILENT 0.31150 0.31150 0.32831 None None None None None None SMARCA4|0.921265936|2.95%

TP53

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 dk31-akp-run025 17 rs1042522
dbSNP Clinvar
7579472 200.0 G C . 0/1 290 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.54293 0.54290 0.36996 0.57 0.05 None None None None None None TP53|0.999869342|0.2%
View dk31-akp-run025 17 rs864622237
dbSNP Clinvar
7577581 200.0 A G . 0/1 263 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.01 0.97 None None None None None None TP53|0.999869342|0.2%
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dk31-akp-run025 17 rs41400246
dbSNP Clinvar
17124625 200.0 C T . 0/1 263 None None None 0.07748 0.07748 None None None None None None FLCN|0.129066067|46.02%
View dk31-akp-run025 14 rs17105837
dbSNP Clinvar
69028741 200.0 G A . 0/1 284 None None None 0.24840 0.24840 None None None None None None RAD51B|0.948387091|2.3%
View dk31-akp-run025 2 rs78608315
dbSNP Clinvar
47604148 200.0 T C . 0/1 327 None None None 0.01018 0.01018 0.02414 None None None None None None EPCAM|0.057517992|60.55%
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