| 1 | Diffuse large b-cell lymphoma | Enrichment | CREBBP, DNMT3A, ETV6, PTEN | 7.88 |
| 2 | Myeloma, multiple | Enrichment | ATM, CREBBP, DNMT3A, FLT3 | 5.92 |
| 3 | Rare genetic intellectual disability | Enrichment | CREBBP, DNMT3A, EP300 | 5.91 |
| 4 | Chronic myelomonocytic leukemia | Enrichment | ETV6, FLT3 | 4.91 |
| 5 | Glioblastoma | Enrichment | ATM, DNMT3A | 4.69 |
| 6 | Leukemia, acute myeloid | Enrichment | DNMT3A, ETV6, FLT3 | 4.58 |
| 7 | Rubinstein-taybi syndrome 1 | Enrichment | CREBBP, EP300 | 4.51 |
| 8 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | CREBBP, EP300 | 4.51 |
| 9 | Gastric cancer | Enrichment | ATM, PTEN, SMAD4 | 4.49 |
| 10 | Inherited cancer-predisposing syndrome | Enrichment | ATM, PTEN, SMAD4, SMARCA4 | 4.43 |
| 11 | Melanoma | Enrichment | DNMT3A, PTEN | 4.03 |
| 12 | Leukemia, acute lymphoblastic | Enrichment | ETV6, FLT3 | 3.95 |
| 13 | Uterine corpus cancer | Enrichment | ATM, PTEN | 3.95 |
| 14 | Gliosarcoma | Enrichment | ATM, DNMT3A | 3.61 |
| 15 | Colorectal cancer | Enrichment | ATM, EP300, SMAD4 | 3.57 |
| 16 | Giant cell glioblastoma | Enrichment | ATM, DNMT3A | 3.56 |
| 17 | Endometrial cancer | Enrichment | ATM, PTEN | 3.37 |
| 18 | Congenital nervous system abnormality | Enrichment | CREBBP, DNMT3A, PTEN | 3.32 |
| 19 | Nervous system disease | Enrichment | CREBBP, DNMT3A, PTEN | 3.32 |
| 20 | Pancreatic cancer | Enrichment | ATM, SMAD4 | 3.22 |
| 21 | Bladder cancer | Enrichment | ATM, PTEN | 3.09 |
| 22 | Prostate cancer | Enrichment | ATM, PTEN | 3.09 |
| 23 | Vacterl association with hydrocephalus | Enrichment | PTEN | 2.83 |
| 24 | Intellectual developmental disorder, x-linked, syndromic 37 | Enrichment | ZFX | 2.83 |
| 25 | Heyn-sproul-jackson syndrome | Enrichment | DNMT3A | 2.83 |
| 26 | Papillary tumor of the pineal region | Enrichment | PTEN | 2.83 |
| 27 | Acute myeloid leukemia with minimal differentiation | Enrichment | FLT3 | 2.83 |
| 28 | Endometrial serous adenocarcinoma | Enrichment | ATM | 2.83 |
| 29 | Glioma susceptibility 2 | Enrichment | PTEN | 2.83 |
| 30 | Smarca4-deficient sarcoma of thorax | Enrichment | SMARCA4 | 2.83 |
| 31 | Ovarian small cell carcinoma | Enrichment | SMARCA4 | 2.83 |
| 32 | Menke-hennekam syndrome 1 | Enrichment | CREBBP | 2.83 |
| 33 | B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) | Enrichment | ETV6 | 2.83 |
| 34 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 2.83 |
| 35 | Rubinstein-taybi syndrome due to 16p13.3 microdeletion | Enrichment | CREBBP | 2.83 |
| 36 | B-cell non-hodgkin lymphoma | Enrichment | ATM | 2.83 |
| 37 | Menke-hennekam syndrome | Enrichment | CREBBP | 2.83 |
| 38 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 2.83 |
| 39 | Hereditary breast carcinoma | Enrichment | ATM, PTEN | 2.73 |
| 40 | Thrombocytopenia | Enrichment | ETV6, SMAD4 | 2.65 |
| 41 | Hereditary breast ovarian cancer syndrome | Enrichment | ATM, PTEN | 2.53 |
| 42 | Myhre syndrome | Enrichment | SMAD4 | 2.53 |
| 43 | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | Enrichment | DNMT3B | 2.53 |
| 44 | Thumb deformity | Enrichment | CREBBP | 2.53 |
| 45 | Rhabdoid tumor predisposition syndrome 2 | Enrichment | SMARCA4 | 2.53 |
| 46 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 2.53 |
| 47 | Cardiac valvular dysplasia, x-linked | Enrichment | ATM | 2.53 |
| 48 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 2.53 |
| 49 | Intravascular large b-cell lymphoma | Enrichment | BCL2 | 2.53 |
| 50 | Rhabdoid tumor predisposition syndrome | Enrichment | SMARCA4 | 2.53 |
| 51 | Facioscapulohumeral muscular dystrophy 4, digenic | Enrichment | DNMT3B | 2.53 |
| 52 | Acute myeloid leukemia with kat6a-crebbp fusion | Enrichment | CREBBP | 2.53 |
| 53 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | Enrichment | DNMT1 | 2.53 |
| 54 | Hematologic cancer | Enrichment | ETV6 | 2.53 |
| 55 | Congenital mesoblastic nephroma | Enrichment | ETV6 | 2.53 |
| 56 | High grade glioma | Enrichment | ATM | 2.53 |
| 57 | Otosclerosis 12 | Enrichment | SMARCA4 | 2.53 |
| 58 | Coffin-siris syndrome 4 | Enrichment | SMARCA4 | 2.53 |
| 59 | Tatton-brown-rahman syndrome | Enrichment | DNMT3A | 2.53 |
| 60 | Fibrosarcoma | Enrichment | ETV6 | 2.53 |
| 61 | T-cell prolymphocytic leukemia | Enrichment | ATM | 2.53 |
| 62 | Acute myeloid leukemia without maturation | Enrichment | FLT3 | 2.53 |
| 63 | Vacterl with hydrocephalus | Enrichment | PTEN | 2.53 |
| 64 | Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) | Enrichment | FLT3 | 2.53 |
| 65 | Juvenile polyposis of infancy | Enrichment | PTEN | 2.53 |
| 66 | Ataxia-telangiectasia | Enrichment | ATM | 2.35 |
| 67 | Juvenile polyposis syndrome | Enrichment | SMAD4 | 2.35 |
| 68 | Polycythemia vera | Enrichment | ATM | 2.35 |
| 69 | Thrombocytopenia 5 | Enrichment | ETV6 | 2.35 |
| 70 | Neuropathy, hereditary sensory, type ie | Enrichment | DNMT1 | 2.35 |
| 71 | Tethered spinal cord syndrome | Enrichment | CREBBP | 2.35 |
| 72 | Koolen-de vries syndrome | Enrichment | ATM | 2.35 |
| 73 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL2 | 2.35 |
| 74 | Adenocarcinoma | Enrichment | ATM | 2.35 |
| 75 | Intraocular pressure quantitative trait locus | Enrichment | CREBBP | 2.35 |
| 76 | Laryngeal squamous cell carcinoma | Enrichment | PTEN | 2.35 |
| 77 | Mixed phenotype acute leukemia with t | Enrichment | FLT3 | 2.35 |
| 78 | Breast cancer | Enrichment | ATM, PTEN | 2.27 |
| 79 | Mantle cell lymphoma | Enrichment | ATM | 2.23 |
| 80 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | Enrichment | FLT3 | 2.23 |
| 81 | Glioma | Enrichment | PTEN | 2.23 |
| 82 | Oculomotor apraxia | Enrichment | ATM | 2.23 |
| 83 | Macrocephaly/autism syndrome | Enrichment | PTEN | 2.13 |
| 84 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 2.13 |
| 85 | Follicular lymphoma | Enrichment | BCL2 | 2.13 |
| 86 | Acute myeloid leukemia with maturation | Enrichment | FLT3 | 2.13 |
| 87 | Myeloproliferative neoplasm | Enrichment | DNMT3A | 2.13 |
| 88 | Hemangioma | Enrichment | PTEN | 2.13 |
| 89 | Acute megakaryocytic leukemia | Enrichment | PTEN | 2.13 |
| 90 | Autosomal thrombocytopenia with normal platelets | Enrichment | ETV6 | 2.13 |
| 91 | Hemimegalencephaly | Enrichment | PTEN | 2.13 |
| 92 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | Enrichment | FLT3 | 2.13 |
| 93 | Primary hypereosinophilic syndrome | Enrichment | ETV6 | 2.13 |
| 94 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | SMAD4 | 2.13 |
| 95 | Cowden syndrome 1 | Enrichment | PTEN | 2.05 |
| 96 | Facioscapulohumeral muscular dystrophy 1 | Enrichment | DNMT3B | 2.05 |
| 97 | Immunodeficiency-centromeric instability-facial anomalies syndrome | Enrichment | DNMT3B | 2.05 |
| 98 | Clear cell renal cell carcinoma | Enrichment | ATM | 2.05 |
| 99 | Hypertrichosis | Enrichment | CREBBP | 2.05 |
| 100 | Sporadic pheochromocytoma/secreting paraganglioma | Enrichment | DNMT3A | 2.05 |
| 101 | Ovarian cancer | Enrichment | ATM, PTEN | 2.02 |
| 102 | Thyroid cancer, nonmedullary, 2 | Enrichment | PTEN | 1.99 |
| 103 | Squamous cell carcinoma, head and neck | Enrichment | PTEN | 1.99 |
| 104 | Renal cell carcinoma, papillary, 1 | Enrichment | ATM | 1.99 |
| 105 | Hereditary sensory and autonomic neuropathy type 1 | Enrichment | DNMT1 | 1.99 |
| 106 | Gallbladder cancer | Enrichment | SMAD4 | 1.99 |
| 107 | Hereditary hemorrhagic telangiectasia | Enrichment | SMAD4 | 1.99 |
| 108 | Follicular thyroid carcinoma | Enrichment | PTEN | 1.99 |
| 109 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | FLT3 | 1.99 |
| 110 | Autism spectrum disorder | Enrichment | DNMT3A, PTEN | 1.96 |
| 111 | Neuroblastoma | Enrichment | SMARCA4 | 1.93 |
| 112 | Charge syndrome | Enrichment | EP300 | 1.88 |
| 113 | Atypical chronic myeloid leukemia, bcr-abl1 negative | Enrichment | FLT3 | 1.88 |
| 114 | Ventricular septal defect | Enrichment | SMARCA4 | 1.88 |
| 115 | Colonic benign neoplasm | Enrichment | ATM | 1.88 |
| 116 | Cowden syndrome | Enrichment | PTEN | 1.88 |
| 117 | Lynch syndrome 1 | Enrichment | ATM | 1.83 |
| 118 | Leukemia, chronic lymphocytic | Enrichment | ATM | 1.83 |
| 119 | Immune deficiency disease | Enrichment | ATM | 1.79 |
| 120 | Meningioma, familial | Enrichment | PTEN | 1.79 |
| 121 | Atrial heart septal defect | Enrichment | SMARCA4 | 1.79 |
| 122 | Interatrial communication | Enrichment | SMARCA4 | 1.79 |
| 123 | Familial colorectal cancer type x | Enrichment | ATM | 1.79 |
| 124 | Specific learning disability | Enrichment | DNMT3A | 1.79 |
| 125 | Meningioma | Enrichment | PTEN | 1.76 |
| 126 | Hypercholesterolemia, familial, 1 | Enrichment | SMARCA4 | 1.72 |
| 127 | Breast-ovarian cancer, familial 1 | Enrichment | ATM | 1.72 |
| 128 | Heart disease | Enrichment | CREBBP | 1.69 |
| 129 | Pituitary stalk interruption syndrome | Enrichment | DNMT1 | 1.69 |
| 130 | Coffin-siris syndrome 1 | Enrichment | SMARCA4 | 1.66 |
| 131 | Renal cell carcinoma, nonpapillary | Enrichment | ATM | 1.66 |
| 132 | Polydactyly, postaxial, type a1 | Enrichment | EP300 | 1.66 |
| 133 | Corpus callosum, agenesis of | Enrichment | CREBBP | 1.66 |
| 134 | Familial hypercholesterolemia | Enrichment | SMARCA4 | 1.66 |
| 135 | Isolated corpus callosum agenesis | Enrichment | CREBBP | 1.66 |
| 136 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CREBBP | 1.66 |
| 137 | Hermansky-pudlak syndrome 1 | Enrichment | ETV6 | 1.63 |
| 138 | Rhabdomyosarcoma | Enrichment | PTEN | 1.63 |
| 139 | Cleft palate, isolated | Enrichment | SMARCA4 | 1.61 |
| 140 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | FLT3 | 1.48 |
| 141 | Scoliosis | Enrichment | CREBBP | 1.46 |
| 142 | Differentiated thyroid carcinoma | Enrichment | ETV6 | 1.38 |
| 143 | Cerebral palsy | Enrichment | SMARCA4 | 1.25 |
| 144 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | SMAD4 | 1.20 |
| 145 | Body mass index quantitative trait locus 11 | Enrichment | DNMT3A | 1.15 |
| 146 | Spastic ataxia | Enrichment | DNMT1 | 1.12 |
| 147 | Autism | Enrichment | CREBBP | 1.00 |
| 148 | Microcephaly | Enrichment | EP300 | 0.78 |