| 1 | Breast cancer | Enrichment | ATM, BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MLH1, MRE11, MSH2, MSH6, NBN, RAD50, RAD51, TP53 | 16.00 |
| 2 | Colorectal cancer | Enrichment | ATM, BRCA1, BRCA2, BRIP1, CHEK2, MLH1, MSH2, MSH6, TP53 | 16.00 |
| 3 | Ovarian cancer | Enrichment | ATM, BARD1, BRCA1, BRCA2, BRIP1, CHEK2, FANCD2, MRE11, MSH2, MSH6, NBN, RAD50, TP53, XPC | 16.00 |
| 4 | Pancreatic cancer | Enrichment | ATM, BRCA1, BRCA2, BRIP1, CHEK2, NBN, TP53 | 16.00 |
| 5 | Breast-ovarian cancer, familial 1 | Enrichment | ATM, BRCA1, BRCA2, BRIP1, CHEK2, MSH2, NBN | 16.00 |
| 6 | Gastric cancer | Enrichment | ATM, BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MLH1, MSH2, MSH6, NBN, TP53 | 16.00 |
| 7 | Hereditary breast carcinoma | Enrichment | ATM, BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MLH1, MSH2, MSH6, NBN, RAD50, RAD51, TP53 | 11.52 |
| 8 | Prostate cancer | Enrichment | ATM, BRCA1, BRCA2, CHEK2, MSH6, NBN, TP53 | 11.32 |
| 9 | Hereditary breast ovarian cancer syndrome | Enrichment | ATM, BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MLH1, MRE11, MSH2, MSH6, NBN, RAD50, RAD51, TP53 | 11.24 |
| 10 | Inherited cancer-predisposing syndrome | Enrichment | ATM, BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MLH1, MRE11, MSH2, MSH3, MSH6, NBN, NTHL1, RAD50, TP53 | 11.18 |
| 11 | Uterine corpus cancer | Enrichment | ATM, BRCA1, BRCA2, BRIP1, CHEK2, MSH2, MSH6 | 10.94 |
| 12 | Endometrial cancer | Enrichment | ATM, BARD1, BRCA1, BRCA2, CHEK2, MLH1, MSH2, MSH3, MSH6 | 10.94 |
| 13 | Lynch syndrome 1 | Enrichment | ATM, CHEK2, MLH1, MSH2, MSH6 | 10.57 |
| 14 | Fanconi anemia, complementation group a | Enrichment | BRCA1, BRCA2, BRIP1, FANCD2, FANCL, RAD51 | 9.16 |
| 15 | Rhabdomyosarcoma | Enrichment | BRCA1, BRCA2, MSH2, MSH6, TP53 | 9.14 |
| 16 | Colonic benign neoplasm | Enrichment | ATM, CHEK2, MLH1, MRE11 | 8.09 |
| 17 | Lynch syndrome | Enrichment | CHEK2, MLH1, MSH2, MSH6 | 7.06 |
| 18 | Mismatch repair cancer syndrome 1 | Enrichment | MLH1, MSH2, MSH6 | 7.02 |
| 19 | Diffuse large b-cell lymphoma | Enrichment | BRCA2, CHEK2, NBN, TP53 | 6.61 |
| 20 | Hepatoblastoma | Enrichment | BARD1, BRCA2, MSH2, TP53 | 6.43 |
| 21 | Bladder cancer | Enrichment | ATM, BRCA1, BRCA2, TP53 | 5.84 |
| 22 | Familial colorectal cancer | Enrichment | MLH1, MSH2, TP53 | 5.55 |
| 23 | Familial colorectal cancer type x | Enrichment | ATM, BRCA2, CHEK2 | 5.41 |
| 24 | Muir-torre syndrome | Enrichment | MLH1, MSH2 | 5.07 |
| 25 | Diffuse midline glioma, h3 k27m-mutant | Enrichment | BRCA2, BRIP1 | 5.07 |
| 26 | Li-fraumeni syndrome 1 | Enrichment | CHEK2, TP53 | 5.07 |
| 27 | Sarcoma | Enrichment | CHEK2, TP53 | 5.07 |
| 28 | Inflammatory breast carcinoma | Enrichment | BRCA1, BRCA2 | 5.07 |
| 29 | Bilateral breast cancer | Enrichment | BRCA1, BRCA2 | 5.07 |
| 30 | Gliosarcoma | Enrichment | ATM, MSH2, TP53 | 4.89 |
| 31 | Giant cell glioblastoma | Enrichment | ATM, MSH2, TP53 | 4.80 |
| 32 | Myeloma, multiple | Enrichment | ATM, BARD1, BRCA2, TP53 | 4.67 |
| 33 | Esophageal atresia/tracheoesophageal fistula | Enrichment | BRCA2, BRIP1, POLR2B | 4.65 |
| 34 | Osteogenic sarcoma | Enrichment | CHEK2, TP53 | 4.60 |
| 35 | Adenocarcinoma | Enrichment | ATM, TP53 | 4.60 |
| 36 | Bone osteosarcoma | Enrichment | CHEK2, TP53 | 4.60 |
| 37 | Hepatocellular carcinoma | Enrichment | NBN, RAD50, TP53 | 4.45 |
| 38 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | BRCA1, BRCA2 | 4.30 |
| 39 | Cholangiocarcinoma | Enrichment | BRCA1, BRCA2 | 4.30 |
| 40 | Lynch syndrome 4 | Enrichment | MSH2, MSH6 | 4.30 |
| 41 | Nijmegen breakage syndrome-like disorder | Enrichment | MRE11, RAD50 | 4.30 |
| 42 | Fanconi anemia, complementation group d2 | Enrichment | BRIP1, FANCD2 | 4.07 |
| 43 | Breast-ovarian cancer, familial 2 | Enrichment | BRCA1, BRCA2 | 4.07 |
| 44 | Glioblastoma | Enrichment | ATM, MSH2 | 4.07 |
| 45 | Lung cancer | Enrichment | BRCA1, CHEK2, MLH1 | 3.95 |
| 46 | Li-fraumeni syndrome | Enrichment | CHEK2, TP53 | 3.90 |
| 47 | Tracheoesophageal fistula with or without esophageal atresia | Enrichment | BRCA2, BRIP1 | 3.52 |
| 48 | Leukemia, chronic lymphocytic | Enrichment | ATM, TP53 | 3.42 |
| 49 | Isolated tracheo-esophageal fistula | Enrichment | BRCA2, BRIP1 | 3.42 |
| 50 | Xeroderma pigmentosum, variant type | Enrichment | DDB2, XPC | 3.34 |
| 51 | Wilms tumor 1 | Enrichment | BRCA2, CHEK2 | 3.06 |
| 52 | Palmoplantar keratoderma, punctate type ii | Enrichment | BRCA1 | 2.53 |
| 53 | Fanconi anemia, complementation group j | Enrichment | BRIP1 | 2.53 |
| 54 | Glioma susceptibility 3 | Enrichment | BRCA2 | 2.53 |
| 55 | Seckel syndrome 1 | Enrichment | ATR | 2.53 |
| 56 | Mirror movements 2 | Enrichment | RAD51 | 2.53 |
| 57 | Fanconi anemia, complementation group r | Enrichment | RAD51 | 2.53 |
| 58 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.53 |
| 59 | Papilloma of choroid plexus | Enrichment | TP53 | 2.53 |
| 60 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.53 |
| 61 | Lynch syndrome 2 | Enrichment | MLH1 | 2.53 |
| 62 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.53 |
| 63 | Infant-type hemispheric glioma | Enrichment | BRCA1 | 2.53 |
| 64 | Pancreatic cancer 2 | Enrichment | BRCA2 | 2.53 |
| 65 | Tumor predisposition syndrome 4 | Enrichment | CHEK2 | 2.53 |
| 66 | Ataxia-telangiectasia-like disorder 1 | Enrichment | MRE11 | 2.53 |
| 67 | Cutaneous telangiectasia and cancer syndrome, familial | Enrichment | ATR | 2.53 |
| 68 | Ataxia-telangiectasia-like disorder 2 | Enrichment | PCNA | 2.53 |
| 69 | Familial adenomatous polyposis 3 | Enrichment | NTHL1 | 2.53 |
| 70 | Endometrial serous adenocarcinoma | Enrichment | ATM | 2.53 |
| 71 | Ductal carcinoma in situ | Enrichment | TP53 | 2.53 |
| 72 | Fanconi anemia, complementation group l | Enrichment | FANCL | 2.53 |
| 73 | Mismatch repair cancer syndrome 2 | Enrichment | MSH2 | 2.53 |
| 74 | Leiomyosarcoma | Enrichment | CHEK2 | 2.53 |
| 75 | Rectal benign neoplasm | Enrichment | MSH2 | 2.53 |
| 76 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.53 |
| 77 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.53 |
| 78 | Ascending colon cancer | Enrichment | MSH2 | 2.53 |
| 79 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.53 |
| 80 | B-cell non-hodgkin lymphoma | Enrichment | ATM | 2.53 |
| 81 | Choroid plexus cancer | Enrichment | TP53 | 2.53 |
| 82 | Ovarian cyst | Enrichment | MSH2 | 2.53 |
| 83 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.53 |
| 84 | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | Enrichment | ATR | 2.53 |
| 85 | Primary peritoneal carcinoma | Enrichment | BRCA1 | 2.53 |
| 86 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.23 |
| 87 | Xeroderma pigmentosum, complementation group c | Enrichment | XPC | 2.23 |
| 88 | Cervical cancer | Enrichment | TP53 | 2.23 |
| 89 | Vacterl association, x-linked, with or without hydrocephalus | Enrichment | FANCL | 2.23 |
| 90 | Xeroderma pigmentosum, complementation group e | Enrichment | DDB2 | 2.23 |
| 91 | Waardenburg syndrome, type 4c | Enrichment | POLR2F | 2.23 |
| 92 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.23 |
| 93 | Congenital heart defects, multiple types, 3 | Enrichment | CHEK2 | 2.23 |
| 94 | Xeroderma pigmentosum, complementation group a | Enrichment | XPC | 2.23 |
| 95 | Fanconi anemia, complementation group s | Enrichment | BRCA1 | 2.23 |
| 96 | Cardiac valvular dysplasia, x-linked | Enrichment | ATM | 2.23 |
| 97 | Pancreatic cancer 4 | Enrichment | BRCA1 | 2.23 |
| 98 | Ovarian cancer 1 | Enrichment | BRIP1 | 2.23 |
| 99 | Microcephaly and chorioretinopathy, autosomal recessive, 3 | Enrichment | TP53BP1 | 2.23 |
| 100 | Congenital fibrosarcoma | Enrichment | TP53 | 2.23 |
| 101 | High grade glioma | Enrichment | ATM | 2.23 |
| 102 | Fanconi anemia, complementation group d1 | Enrichment | BRCA2 | 2.23 |
| 103 | Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease | Enrichment | POLR2F | 2.23 |
| 104 | Cervix carcinoma | Enrichment | TP53 | 2.23 |
| 105 | Hodgkin's lymphoma | Enrichment | TP53 | 2.23 |
| 106 | T-cell prolymphocytic leukemia | Enrichment | ATM | 2.23 |
| 107 | Mismatch repair cancer syndrome 3 | Enrichment | MSH6 | 2.23 |
| 108 | Xeroderma pigmentosum group c | Enrichment | XPC | 2.23 |
| 109 | Peritoneum cancer | Enrichment | BRCA1 | 2.23 |
| 110 | Microcephaly and chorioretinopathy 3 | Enrichment | TP53BP1 | 2.23 |
| 111 | Xeroderma pigmentosum group e | Enrichment | DDB2 | 2.23 |
| 112 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.23 |
| 113 | Neuroendocrine tumor of pancreas | Enrichment | BRCA2 | 2.23 |
| 114 | Leukemia, acute myeloid | Enrichment | FANCD2, TP53 | 2.21 |
| 115 | Ataxia-telangiectasia | Enrichment | ATM | 2.05 |
| 116 | Waardenburg syndrome, type 2a | Enrichment | POLR2F | 2.05 |
| 117 | Nijmegen breakage syndrome | Enrichment | NBN | 2.05 |
| 118 | Polycythemia vera | Enrichment | ATM | 2.05 |
| 119 | Nasopharyngeal carcinoma | Enrichment | TP53 | 2.05 |
| 120 | Tumor predisposition syndrome 1 | Enrichment | BRCA2 | 2.05 |
| 121 | Lynch syndrome 5 | Enrichment | MSH6 | 2.05 |
| 122 | Familial adenomatous polyposis 4 | Enrichment | MSH3 | 2.05 |
| 123 | Koolen-de vries syndrome | Enrichment | ATM | 2.05 |
| 124 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 2.05 |
| 125 | Anaplastic astrocytoma | Enrichment | TP53 | 2.05 |
| 126 | Squamous cell carcinoma | Enrichment | TP53 | 2.05 |
| 127 | Cellular ependymoma | Enrichment | MSH2 | 2.05 |
| 128 | Tanycytic ependymoma | Enrichment | MSH2 | 2.05 |
| 129 | Papillary ependymoma | Enrichment | MSH2 | 2.05 |
| 130 | Bap1 tumor predisposition syndrome | Enrichment | BRCA2 | 2.05 |
| 131 | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | Enrichment | MSH6 | 2.05 |
| 132 | Colon adenocarcinoma | Enrichment | MSH6 | 2.05 |
| 133 | Melanoma of soft tissue | Enrichment | ATF1 | 2.05 |
| 134 | Clear cell ependymoma | Enrichment | MSH2 | 2.05 |
| 135 | Mirror movements 1 | Enrichment | RAD51 | 1.93 |
| 136 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | Enrichment | MRE11 | 1.93 |
| 137 | Gaucher disease, type i | Enrichment | MSH6 | 1.93 |
| 138 | Small cell cancer of the lung | Enrichment | TP53 | 1.93 |
| 139 | Chordoma | Enrichment | BRCA2 | 1.93 |
| 140 | Erythrocytosis, familial, 2 | Enrichment | FANCD2 | 1.93 |
| 141 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.93 |
| 142 | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | Enrichment | POLR2A | 1.93 |
| 143 | Mantle cell lymphoma | Enrichment | ATM | 1.93 |
| 144 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.93 |
| 145 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.93 |
| 146 | Hemoglobin c disease | Enrichment | CHEK2 | 1.93 |
| 147 | Autosomal recessive chorioretinopathy-microcephaly syndrome | Enrichment | TP53BP1 | 1.93 |
| 148 | Vacterl association | Enrichment | FANCL | 1.93 |
| 149 | Benign ependymoma | Enrichment | MSH2 | 1.93 |
| 150 | Oculomotor apraxia | Enrichment | ATM | 1.93 |
| 151 | Primary ovarian insufficiency | Enrichment | CHEK2, NBN | 1.88 |
| 152 | Vater/vacterl association | Enrichment | FANCL | 1.83 |
| 153 | Von hippel-lindau syndrome | Enrichment | FANCD2 | 1.83 |
| 154 | Hypogonadotropic hypogonadism 1 with or without anosmia | Enrichment | POLR2F | 1.83 |
| 155 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.83 |
| 156 | Lymphoma | Enrichment | TP53 | 1.83 |
| 157 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.83 |
| 158 | Kabuki syndrome 1 | Enrichment | BRCA2 | 1.76 |
| 159 | Waardenburg syndrome, type 4a | Enrichment | POLR2F | 1.76 |
| 160 | Wilms tumor 5 | Enrichment | CHEK2 | 1.76 |
| 161 | Adrenocortical carcinoma | Enrichment | TP53 | 1.76 |
| 162 | Clear cell renal cell carcinoma | Enrichment | ATM | 1.76 |
| 163 | Breast adenocarcinoma | Enrichment | TP53 | 1.76 |
| 164 | Waardenburg syndrome | Enrichment | POLR2F | 1.76 |
| 165 | Esophageal cancer | Enrichment | TP53 | 1.69 |
| 166 | Waardenburg syndrome, type 1 | Enrichment | POLR2F | 1.69 |
| 167 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.69 |
| 168 | Waardenburg syndrome, type 2e | Enrichment | POLR2F | 1.69 |
| 169 | Renal cell carcinoma, papillary, 1 | Enrichment | ATM | 1.69 |
| 170 | Essential thrombocythemia | Enrichment | TP53 | 1.69 |
| 171 | Gallbladder cancer | Enrichment | TP53 | 1.69 |
| 172 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.69 |
| 173 | Glioma susceptibility 1 | Enrichment | TP53 | 1.63 |
| 174 | Isolated growth hormone deficiency, type ia | Enrichment | BRCA2 | 1.63 |
| 175 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.63 |
| 176 | Polydactyly | Enrichment | BRCA2 | 1.58 |
| 177 | Adult hepatocellular carcinoma | Enrichment | TP53 | 1.58 |
| 178 | Primary hyperaldosteronism | Enrichment | TP53 | 1.58 |
| 179 | Aplastic anemia | Enrichment | NBN | 1.54 |
| 180 | Melanoma | Enrichment | CHEK2 | 1.54 |
| 181 | Immune deficiency disease | Enrichment | ATM | 1.50 |
| 182 | Leukemia, acute lymphoblastic | Enrichment | NBN | 1.50 |
| 183 | Myelodysplastic syndrome | Enrichment | TP53 | 1.50 |
| 184 | Lip and oral cavity carcinoma | Enrichment | TP53 | 1.46 |
| 185 | Premature menopause | Enrichment | NBN | 1.42 |
| 186 | Nk-cell enteropathy | Enrichment | CHEK2 | 1.42 |
| 187 | Medulloblastoma | Enrichment | BRCA2 | 1.39 |
| 188 | Lung cancer susceptibility 3 | Enrichment | TP53 | 1.39 |
| 189 | Periventricular nodular heterotopia | Enrichment | BRCA1 | 1.39 |
| 190 | Seckel syndrome | Enrichment | ATR | 1.39 |
| 191 | Renal cell carcinoma, nonpapillary | Enrichment | ATM | 1.36 |
| 192 | Lissencephaly | Enrichment | NBN | 1.22 |
| 193 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.18 |
| 194 | Kallmann syndrome | Enrichment | POLR2F | 1.18 |
| 195 | Hirschsprung disease 1 | Enrichment | POLR2F | 1.09 |
| 196 | Diamond-blackfan anemia | Enrichment | TP53 | 1.00 |
| 197 | Cerebral palsy | Enrichment | BRCA2 | 0.96 |
| 198 | Rare genetic deafness | Enrichment | POLR2F | 0.68 |
| 199 | Microcephaly | Enrichment | NBN | 0.51 |