Table S3. Annotation of detected PTVs;;;;;;;;;;;;;;;;;;;
;;;;;;;;;;;;;;;;;;;
PatientID;FamilyID;Chr:Pos;Ref/Alt;Classification;Interpretation;Alt Allele Freq;Alt Allele Count;Homozgyous Count;N of 6 Predicted Damaging;PHRED Score;Aggregate of Interpretations from Submissions;Gene Names;Sequence Ontology (Combined);HGVS c. (Clinically Relevant);HGVS p. (Clinically Relevant);HGMD Disease;Variant Allele Freq;Allelic Depths;Zygosity
9;15;13:111109231;C/-;NA;NA;0.000104741;3;0;NA;4.319;NA;COL4A2,COL4A2-AS2;frameshift_variant;NM_001846.3:c.1340-458delC,NM_001267044.1:c.841delG;,NP_001253973.1:p.Asp281Thrfs;"Haemorrhagic stroke (4); Porencephaly (3); Intracerebral haemorrhage & leukoencephalopathy (1); Macular degeneration, age related, protection against (1); Porencephaly & small-vessel disease (1); Porencephaly with cataracts (1); Porencephaly, type II (1)";0.333333;4,2;Heterozygous
23;26;13:111109483;-/C;NA;NA;0.000384221;3;0;NA;4.574;NA;COL4A2,COL4A2-AS2;frameshift_variant;NM_001846.3:c.1340-207dupC,NM_001267044.1:c.589dupG;,NP_001253973.1:p.Asp197Glyfs;"Haemorrhagic stroke (4); Porencephaly (3); Intracerebral haemorrhage & leukoencephalopathy (1); Macular degeneration, age related, protection against (1); Porencephaly & small-vessel disease (1); Porencephaly with cataracts (1); Porencephaly, type II (1)";0.5;2,2;Heterozygous
30;7;13:111109129;G/A;NA;NA;0.0040176;126;0;NA;8.252;NA;COL4A2,COL4A2-AS2;stop_gained;NM_001846.3:c.1340-561G>A,NM_001267044.1:c.943C>T;,NP_001253973.1:p.Gln315Ter;"Haemorrhagic stroke (4); Porencephaly (3); Intracerebral haemorrhage & leukoencephalopathy (1); Macular degeneration, age related, protection against (1); Porencephaly & small-vessel disease (1); Porencephaly with cataracts (1); Porencephaly, type II (1)";0.75;1,3;Heterozygous
2;10;4:1389024;CA/-;NA;NA;0.000268327;5;0;NA;22.3;NA;CRIPAK;frameshift_variant;NM_175918.3:c.728_729delAC;NP_787114.2:p.His243Argfs*164;NA;0.272727;8,3;Heterozygous
16;21;4:1389175;CA/-;NA;NA;0.000534915;11;0;NA;22.2;NA;CRIPAK;frameshift_variant;NM_175918.3:c.879_880delAC;NP_787114.2:p.Arg294Cysfs*113;NA;0.5;2,2;Heterozygous
30;7;4:1389330;-/CA;NA;NA;NA;NA;NA;NA;35;NA;CRIPAK;frameshift_variant;NM_175918.3:c.1034_1035dupAC;NP_787114.2:p.Val346Thrfs*84;NA;0.5;2,2;Heterozygous
3;12;17:73585998;CAGCAGTGAGGCGGAGTTGGAGACCCTCAATGACGAGCCCCCGGTGCGCTGGGCGCAGGGCTCAGGCCCCCACGAGGGTCCTAGGCTTGGCGCCGCCGTGCTGCTACCCCGACTCTCCTTGGAGACCCGCCTG/-;NA;NA;NA;NA;NA;NA;17.59;NA;MYO15B;frameshift_variant;NM_001309242.1:c.1860_1992del;NP_001296171.1:p.Ser622Argfs*11;NA;0.4;3,2;Heterozygous
11;17;17:73585436;GGGGCCACGAGCGAGGGGACGAG/-;NA;NA;NA;NA;NA;NA;10.31;NA;MYO15B;frameshift_variant;NM_001309242.1:c.1300_1322del;NP_001296171.1:p.Gly434Serfs*34;NA;0.333333;4,2;Heterozygous
11;17;17:73585462;CGGGGCCGCGGGAAAGCGGACGAAGGGCGGG/-;NA;NA;NA;NA;NA;NA;11.94;NA;MYO15B;frameshift_variant;NM_001309242.1:c.1324_1354del;NP_001296171.1:p.Arg442Alafs*46;NA;0.333333;4,2;Heterozygous
8;15;14:64653275;A/-;NA;NA;NA;NA;NA;NA;33;NA;SYNE2;frameshift_variant;NM_182914.2:c.17691delA;NP_878918.2:p.Gln5897Hisfs*7;"Breast cancer (2); Increased spine bone mineral density in men, association (1); Muscular dystrophy, Emery-Dreifuss (1); Psoriasis, association with (1),NA";0.5;2,2;Heterozygous
17;21;14:64586292;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;46;NA;SYNE2;stop_gained;NM_182914.2:c.12988C>T;NP_878918.2:p.Gln4330Ter;"Breast cancer (2); Increased spine bone mineral density in men, association (1); Muscular dystrophy, Emery-Dreifuss (1); Psoriasis, association with (1),NA";0.4;3,2;Heterozygous
24;27;14:64568649;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;23.1;NA;SYNE2;splice_acceptor_variant;NM_182914.2:c.12382-1G>A;NA;"Breast cancer (2); Increased spine bone mineral density in men, association (1); Muscular dystrophy, Emery-Dreifuss (1); Psoriasis, association with (1),NA";0.4;3,2;Heterozygous
2;10;15:41862801;G/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;33;NA;TYRO3;splice_acceptor_variant;NM_006293.3:c.1484-1G>T;NA;NA;0.333333;4,2;Heterozygous
17;21;15:41853509;-/CCTGAAGTCA;NA;NA;0.00023366;7;0;NA;28.2;NA;TYRO3;frameshift_variant;NM_006293.3:c.308_308+1insCCTGAAGTCA;NP_006284.2:p.Val107Profs*8;NA;0.5;2,2;Heterozygous
24;27;15:41865665;GGTGAGCAGGGTGGCCCGTGAAGCTTGGTGGGGACGAGTGTGAGAGCAGACCTTTAGGATCCTTAAGGGCCTAGCCAAGTCTGCTCTCTGGGGTTTGGTTGCCCCCTGATGAGGCCCTGAGCCCCAGGTTGTGCTTGTCTCAGAGCCATGGCTCTCTGCCTGGCTCAGGACACCTAGTGACAGCTTCTCCCCCAACCTCGATTCTGTCCCA/-;NA;NA;NA;NA;NA;NA;34;NA;TYRO3;splice_acceptor_variant;NM_006293.3:c.2145_2145+210del;NP_006284.2:p.?;NA;0.5;5,5;Heterozygous
2;10;19:1042827;T/G;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;24.4;NA;ABCA7;splice_donor_variant;NM_019112.3:c.579+2T>G;NA;"Alzheimer disease (88); Autism (8); Alzheimer disease, late-onset, association with (1); Alzheimer disease, protection against (1); Parkinson disease (1); Renal glucosuria, familial (1)";0.4;3,2;Heterozygous
35;26;19:1055908;T/-;NA;NA;0.000541746;17;0;NA;35;Likely pathogenic (1);ABCA7;frameshift_variant;NM_019112.3:c.4208delT;NP_061985.2:p.Leu1403Argfs*7;"Alzheimer disease (88); Autism (8); Alzheimer disease, late-onset, association with (1); Alzheimer disease, protection against (1); Parkinson disease (1); Renal glucosuria, familial (1)";0.470588;18,16;Heterozygous
19;24;20:62493007;GCGCGCCGTGGGCCGGAGCAGCAGCCACCGGGCGCTGACCTGCGCGGCAGCCGCGGCGGGCGTGTGGTTGCTGCGGGACGAGACGCTGGGCGGGGATGCGCTGGGGCGGCCTCCACGTGGGGCGCGCAGCCAGGCGCAGTGCCTCTTGCAGCAGCTCCGCGAGCTGCCCGGCCAGCTCGCTAGCTACGCGCTGGCCCACTCGCTGGGCCGCTGGCTCGTGTACCCCGGCTCCGTGTCCCTGATGACGC/-;NA;NA;NA;NA;NA;NA;38;NA;ABHD16B;frameshift_variant;NM_080622.3:c.120_367del;NP_542189.1:p.Val41Alafs*26;NA;0.5;2,2;Heterozygous
34;2;20:62493176;-/GGCCAGCTCGCTAGCTACGCGCT;NA;NA;0.00929065;285;1;NA;11.83;NA;ABHD16B;frameshift_variant;NM_080622.3:c.287_309dup;NP_542189.1:p.His104Serfs*23;NA;0.631579;7,12;Heterozygous
17;21;7:134719156;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;AGBL3;stop_gained;NM_178563.3:c.814C>T;NP_848658.3:p.Gln272Ter;Later onset of Alzheimer disease, association with (1);0.333333;4,2;Heterozygous
33;8;7:134717639;C/T;NA;NA;3.19E-05;1;0;2 of 6 Predicted as Damaging;36;NA;AGBL3;stop_gained;NM_178563.3:c.463C>T;NP_848658.3:p.Arg155Ter;Later onset of Alzheimer disease, association with (1);0.285714;5,2;Heterozygous
17;21;2:68794471;A/G;NA;NA;0.000127445;4;0;2 of 6 Predicted as Damaging;29.8;NA;APLF;splice_acceptor_variant;NM_173545.2:c.1287-2A>G;NA;NA;0.4;3,2;Heterozygous
30;7;2:68740782;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;35;NA;APLF;stop_gained;NM_173545.2:c.592C>T;NP_775816.1:p.Gln198Ter;NA;0.5;2,2;Heterozygous
2;10;17:7077063;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;38;NA;ASGR1;stop_gained;NM_001671.4:c.791G>A;NP_001662.1:p.Trp264Ter;"Coronary artery disease, reduced risk (1); Reduced non-HDL cholesterol level (1)";0.285714;5,2;Heterozygous
17;21;17:7077123;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;ASGR1;stop_gained;NM_001671.4:c.731G>A;NP_001662.1:p.Trp244Ter;"Coronary artery disease, reduced risk (1); Reduced non-HDL cholesterol level (1)";0.333333;4,2;Heterozygous
24;27;11:108178623;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;ATM;splice_acceptor_variant;NM_000051.3:c.5675-1G>A;NA;"Ataxia telangiectasia (635); Breast cancer, susceptibility to (106); Breast cancer (41); Breast and/or ovarian cancer (20); Ataxia telangiectasia, variant (8); Cancer (6); Colorectal cancer (6); Prostate cancer (6); Malignant neoplasm (5); Pancreatic cancer (5); Breast cancer, association with (4); Gastric cancer (4); Ocular telangiectasia (4); Ovarian cancer (4); Hodgkin disease (3); Mantle cell lymphoma (3); Gastric cancer, association with (2); Multiple myelomas (2); Non-small-cell lung cancer, association with (2); Acute lymphoblastic leukaemia (1); Astrocytoma, gliobastoma and colon polyps (1); Ataxia telangiectasia, atypical (1); Ataxia telangiectasia, late-onset variant (1); Ataxia telangiectasia, mild (1); Breast and endometrial cancer and colon polyps (1); Breast and gastric cancer (1); Breast and pancreatic cancer (1); Breast cancer risk in older women, association (1); Breast cancer, bilateral, association with (1); Breast cancer, contralateral, reduced risk, association with (1); Breast cancer, early-onset (1); Chronic lymphocytic leukaemia (1); Chronic lymphocytic leukaemia progression (1); Colon cancer (1); Colon cancer and polyposis (1); Colon polyps (1); Haematologic cancer (1); Longevity, association with (1); Lung cancer, increased risk, association with (1); Multiple cancers (1); Non-small cell lung cancer (1); Pancreatic ductal adenocarcinoma (1); Reduced expression (1); Tissue response in radiotherapy, association with (1)";0.4;3,2;Heterozygous
35;26;11:108153565;TTTTA/-;NA;NA;NA;NA;NA;NA;34;NA;ATM;frameshift_variant;NM_000051.3:c.3712_3716delTTATT;NP_000042.3:p.Leu1238Lysfs*6;"Ataxia telangiectasia (635); Breast cancer, susceptibility to (106); Breast cancer (41); Breast and/or ovarian cancer (20); Ataxia telangiectasia, variant (8); Cancer (6); Colorectal cancer (6); Prostate cancer (6); Malignant neoplasm (5); Pancreatic cancer (5); Breast cancer, association with (4); Gastric cancer (4); Ocular telangiectasia (4); Ovarian cancer (4); Hodgkin disease (3); Mantle cell lymphoma (3); Gastric cancer, association with (2); Multiple myelomas (2); Non-small-cell lung cancer, association with (2); Acute lymphoblastic leukaemia (1); Astrocytoma, gliobastoma and colon polyps (1); Ataxia telangiectasia, atypical (1); Ataxia telangiectasia, late-onset variant (1); Ataxia telangiectasia, mild (1); Breast and endometrial cancer and colon polyps (1); Breast and gastric cancer (1); Breast and pancreatic cancer (1); Breast cancer risk in older women, association (1); Breast cancer, bilateral, association with (1); Breast cancer, contralateral, reduced risk, association with (1); Breast cancer, early-onset (1); Chronic lymphocytic leukaemia (1); Chronic lymphocytic leukaemia progression (1); Colon cancer (1); Colon cancer and polyposis (1); Colon polyps (1); Haematologic cancer (1); Longevity, association with (1); Lung cancer, increased risk, association with (1); Multiple cancers (1); Non-small cell lung cancer (1); Pancreatic ductal adenocarcinoma (1); Reduced expression (1); Tissue response in radiotherapy, association with (1)";0.407407;16,11;Heterozygous
33;8;13:32912020;AGAC/-;Pathogenic;LDBm[1068], DBKG[141218]: DBKG.Consensus: C5, DBKG.StudyGroup: OUH, RH;NA;NA;NA;NA;23.2;Pathogenic (2);BRCA2;frameshift_variant;NM_000059.3:c.3530_3533delACAG;NP_000050.2:p.Asp1177Alafs*19;"Breast cancer (899); Breast and/or ovarian cancer (643); Ovarian cancer (84); Prostate cancer (38); Fanconi anaemia (23); Breast cancer, male (15); Breast cancer, early-onset (13); Oesophageal carcinoma (12); Altered splicing (9); Cancer (9); Pancreatic cancer (9); Epithelial ovarian cancer (6); Colorectal cancer (5); Fanconi anaemia D1 (5); Pancreatic adenocarcinoma (5); Breast cancer, association with (4); Breast cancer, triple-negative (4); Ovarian carcinoma (4); Altered function (3); Fallopian tube cancer (3); Oesophageal cancer (3); Pancreatic ductal adenocarcinoma (3); Autism (2); Ductal carcinoma in situ (2); Fallopian tube carcinoma (2); Fanconi anaemia, atypical (2); Intraperitoneal cancer (2); Liver cancer (2); Lung cancer (2); Malignant neoplasm (2); Ocular melanoma (2); Ovarian insufficiency, primary (2); Triple negative breast cancer (2); Acinar cell carcinoma of the pancreas (1); Acute myelogenous leukaemia (1); Breast and colorectal cancer (1); Breast and/or ovarian cancer, association with (1); Breast cancer and colon polyps (1); Breast cancer in radiographers, decreased risk (1); Breast cancer risk, association with (1); Breast cancer, risk, association with (1); Breast cancer, sporadic, protection against (1); Cone-rod dystrophy (1); Leukaemia risk, association with (1); Non-triple negative breast cancer (1); Poorer survival in prostate cancer patients (1); Primordial dwarfism (1); Promyelocytic leukaemia (1); Sarcoma (1); Triple-negative breast cancer (1)";0.615385;5,8;Heterozygous
35;26;13:32972626;A/T;Benign;LDBp[1055] LDB.Klasse: poly, LDB.Baggrund: nonsense mutation i exon 27. Meeks et al in preparation: OR=1.3, LDB.Vurdering: besked til Mads, DBKG[141218]: DBKG.Consensus: C1, DBKG.StudyGroup: AAS, OUH, MOMA/KlB;0.00544413;171;0;1 of 6 Predicted as Damaging;36;Benign (19),Conflicting interpretations of pathogenicity (6),Likely benign (2),Benign/Likely benign (8);BRCA2;stop_gained;NM_000059.3:c.9976A>T;NP_000050.2:p.Lys3326Ter;"Breast cancer (899); Breast and/or ovarian cancer (643); Ovarian cancer (84); Prostate cancer (38); Fanconi anaemia (23); Breast cancer, male (15); Breast cancer, early-onset (13); Oesophageal carcinoma (12); Altered splicing (9); Cancer (9); Pancreatic cancer (9); Epithelial ovarian cancer (6); Colorectal cancer (5); Fanconi anaemia D1 (5); Pancreatic adenocarcinoma (5); Breast cancer, association with (4); Breast cancer, triple-negative (4); Ovarian carcinoma (4); Altered function (3); Fallopian tube cancer (3); Oesophageal cancer (3); Pancreatic ductal adenocarcinoma (3); Autism (2); Ductal carcinoma in situ (2); Fallopian tube carcinoma (2); Fanconi anaemia, atypical (2); Intraperitoneal cancer (2); Liver cancer (2); Lung cancer (2); Malignant neoplasm (2); Ocular melanoma (2); Ovarian insufficiency, primary (2); Triple negative breast cancer (2); Acinar cell carcinoma of the pancreas (1); Acute myelogenous leukaemia (1); Breast and colorectal cancer (1); Breast and/or ovarian cancer, association with (1); Breast cancer and colon polyps (1); Breast cancer in radiographers, decreased risk (1); Breast cancer risk, association with (1); Breast cancer, risk, association with (1); Breast cancer, sporadic, protection against (1); Cone-rod dystrophy (1); Leukaemia risk, association with (1); Non-triple negative breast cancer (1); Poorer survival in prostate cancer patients (1); Primordial dwarfism (1); Promyelocytic leukaemia (1); Sarcoma (1); Triple-negative breast cancer (1)";0.647059;12,22;Heterozygous
19;24;6:154744114;GAGACTGTACAGAAACAAAATAACCTGCCTTAATTCTTTTAAACCTTCTATTTCTTTCTGCTTTTATTTCTTCTTTCTTCTGTAGACAATTAGCAACTGAAATAACATTTTCTCAGGAAAAATAAAACAATGCACTTTATTCCCCT/-;NA;NA;NA;NA;NA;NA;34;NA;CNKSR3;splice_acceptor_variant;NM_173515.2:c.730-142_733del;NP_775786.2:p.=;NA;0.6;2,3;Heterozygous
33;8;6:154743668;T/-;NA;NA;NA;NA;NA;NA;25.2;NA;CNKSR3;frameshift_variant;NM_173515.2:c.917delA;NP_775786.2:p.Asn306Thrfs*29;NA;0.636364;4,7;Heterozygous
24;27;12:70747636;G/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;42;NA;CNOT2;stop_gained;NM_014515.5:c.1564G>T;NP_055330.1:p.Glu522Ter;NA;0.4;3,2;Heterozygous
24;27;12:70747639;G/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;42;NA;CNOT2;stop_gained;NM_014515.5:c.1567G>T;NP_055330.1:p.Glu523Ter;NA;0.5;3,3;Heterozygous
8;15;8:144940777;G/-;NA;NA;0.0040153;126;0;NA;21.5;NA;EPPK1;frameshift_variant;NM_031308.3:c.6645delC;NP_112598.3:p.Val2216Serfs*28;"Parkinson disease, early onset (1); Schizophrenia (1)";0.8;1,4;Heterozygous
8;15;8:144940783;GT/-;NA;NA;0.0039157;123;0;NA;23;NA;EPPK1;frameshift_variant;NM_031308.3:c.6638_6639delAC;NP_112598.3:p.Asp2213Glyfs*195;"Parkinson disease, early onset (1); Schizophrenia (1)";0.75;1,3;Heterozygous
33;8;12:133067448;-/AAGGATATGGCCCTGAAGCCACATGAGCGGAAGGA;NA;NA;0.000129358;4;0;NA;32;NA;FBRSL1;frameshift_variant;NM_001142641.1:c.291_291+1ins(35);NP_001136113.1:p.Lys110Argfs*5;NA;0.5;2,2;Heterozygous
33;8;12:133067449;T/A;NA;NA;0;0;0;2 of 6 Predicted as Damaging;28.3;NA;FBRSL1;splice_donor_variant;NM_001142641.1:c.291+2T>A;NA;NA;0.4;3,2;Heterozygous
9;15;6:32159536;GGAGTGGGGCAGGGGCTAGGCTTGAGGGGTTTTGGGGGGTGTAGAAGGTGGCCCTCTGCTCCTCCAGGCGGCGGGACTGGGCTTCAGCCACCAGGTCCAGAAGGAGTTCAGTCTGCAGGGAGAGCAGGGAGGCCGAGCGGGGTCCCAGGGCTGGGGAGAGGGGTGTGGAGGGCTCAGAGACCCAGAGAGGTTGGCAGACAGGAGCCGTGGG/-;NA;NA;NA;NA;NA;NA;37;NA;GPSM3;splice_acceptor_variant;NM_022107.2:c.146-61_295del;NP_071390.1:p.?;NA;0.6;2,3;Heterozygous
16;21;6:32159541;GGGGCAGGGGCTAGGCTTGAGGGGTTTTGGGGGGTGTAGAAGGTGGCCCTCTGCTCCTCCAGGCGGCGGGACTGGGCTTCAGCCACCAGGTCCAGAAGGAGTTCAGTCTGCAGGGAGAGCAGGGAGGCCGAGC/-;NA;NA;NA;NA;NA;NA;37;NA;GPSM3;frameshift_variant;NM_022107.2:c.158_290del;NP_071390.1:p.Arg53Hisfs*44;NA;0.5;2,2;Heterozygous
2;10;13:28367762;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;39;NA;GSX1;stop_gained;NM_145657.2:c.472C>T;NP_663632.1:p.Gln158Ter;NA;0.4;3,2;Heterozygous
33;8;13:28367173;GCCGCCGCGCTCTACCAGACCTCCTACCCGCTGCCTGACCCCAGGCAGTTCCACTGCATCTCTGTGGGTAAGCGGG/-;NA;NA;NA;NA;NA;NA;41;NA;GSX1;splice_donor_variant;NM_145657.2:c.356_412+19del;NP_663632.1:p.?;NA;0.375;5,3;Heterozygous
17;21;10:115344042;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;HABP2;splice_donor_variant;NM_004132.4:c.1372+1G>A;NA;"Carotid stenosis, association with (1); Papillary thyroid carcinoma (1)";0.285714;5,2;Heterozygous
25;3;10:115335722;GCAGCTGCCTGGCTCCTTTCTCTGGGAATAAGTGTCAGAAAGGTGAGTCCGTCATCACTAGTCCACTCTTCCCTCTGAGTTAAACAAGAGGCAGTCCTTTCTGTGTGAGAAAGCACTGCGCAATGCCATGGAAAGGATTATAACTGCAATACTGTATCATGCATAGTGTATTCCTCTGCAGGGTCCCAG/-;NA;NA;NA;NA;NA;NA;6.74049;NA;HABP2;splice_donor_variant;NM_004132.4:c.290_331+147del;NP_004123.1:p.?;"Carotid stenosis, association with (1); Papillary thyroid carcinoma (1)";0.4;3,2;Heterozygous
8;15;8:42819496;-/T;NA;NA;NA;NA;NA;NA;28.1;NA;HOOK3;frameshift_variant;NM_032410.3:c.657_658insT;NP_115786.1:p.Asn220Ter;NA;0.4;3,2;Heterozygous
11;17;8:42752293;CTGGAGCGGGCGGAGCTGTGCGAGAGCCTCCTCACTTGGGTACGTGGGGGCCGCGGGCCGGCGGGAAGACCCCCTCCCCCCGCCACCTACCGGGACCCTCCACGCGCGGCCCGTGGGGCGAGCGCTGCGGGCGACGGTGCCGTCACATCCGGGGC/-;NA;NA;NA;NA;NA;NA;37;NA;HOOK3;splice_donor_variant;NM_032410.3:c.19_57+116del;NP_115786.1:p.?;NA;0.666667;2,4;Heterozygous
30;7;17:26944290;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;42;NA;KIAA0100;stop_gained;NM_014680.3:c.5870G>A;NP_055495.2:p.Trp1957Ter;NA,Autism (1);0.5;2,2;Heterozygous
30;7;17:26965428;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;KIAA0100;stop_gained;NM_014680.3:c.1354C>T;NP_055495.2:p.Gln452Ter;Autism (1);0.4;3,2;Heterozygous
2;10;13:114060687;A/-;Likely Benign;kaldt som to varianter , set 2 gange homozygot, ingen klinik;0.00375772;118;2;NA;0.98;NA;LOC101928841;frameshift_variant;NM_001304433.1:c.1818delT;NP_001291362.1:p.Pro607Leufs*15;NA;0.5;2,2;Heterozygous
2;10;13:114060690;C/-;Likely Benign;kaldt som to varianter , set 2 gange homozygot, ingen klinik;0.00375724;118;2;NA;6.794;NA;LOC101928841;frameshift_variant;NM_001304433.1:c.1815delG;NP_001291362.1:p.Asn606Ilefs*16;NA;0.5;2,2;Heterozygous
17;21;17:27062315;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;NEK8;stop_gained;NM_178170.2:c.544C>T;NP_835464.1:p.Gln182Ter;"Renal cystic dysplasia, syndromic (8); Nephronophthisis (4); Renal disease with hepatic and cardiac anomalies (2); Multiple organ dysplasia (1)";0.285714;5,2;Heterozygous
22;26;17:27068128;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;40;NA;NEK8;stop_gained;NM_178170.2:c.1765C>T;NP_835464.1:p.Gln589Ter;"Renal cystic dysplasia, syndromic (8); Nephronophthisis (4); Renal disease with hepatic and cardiac anomalies (2); Multiple organ dysplasia (1)";0.4;3,2;Heterozygous
24;27;2:42991016;C/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;OXER1;stop_gained;NM_148962.4:c.304G>T;NP_683765.1:p.Glu102Ter;NA;0.6;2,3;Heterozygous
30;7;2:42991199;CCATGGGCTGCTTGGG/-;NA;NA;NA;NA;NA;NA;35;NA;OXER1;frameshift_variant;NM_148962.4:c.106_121del;NP_683765.1:p.Pro36Asnfs*5;NA;0.5;2,2;Heterozygous
25;3;8:101724624;-/A;NA;NA;NA;NA;NA;NA;35;NA;PABPC1;frameshift_variant;NM_002568.3:c.938_939insT;NP_002559.2:p.Glu313Aspfs*10;NA;0.5;2,2;Heterozygous
30;7;8:101730037;-/C;NA;NA;3.26E-05;1;0;NA;34;NA;PABPC1;frameshift_variant;NM_002568.3:c.467_468insG;NP_002559.2:p.Met158Asnfs*8;NA;0.4;3,2;Heterozygous
9;15;11:14852372;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;35;NA;PDE3B;stop_gained;NM_000922.3:c.1936C>T;NP_000913.2:p.Gln646Ter;Schizophrenia (1);0.4;3,2;Heterozygous
14;19;11:14808153;T/-;NA;NA;NA;NA;NA;NA;11.79;NA;PDE3B;frameshift_variant;NM_000922.3:c.1200delT;NP_000913.2:p.Leu401Serfs*13;Schizophrenia (1);0.5;2,2;Heterozygous
17;21;19:49952879;T/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;PIH1D1;stop_gained;NM_017916.2:c.190A>T;NP_060386.1:p.Lys64Ter;NA,NA,NA,NA,NA,NA,NA,NA,NA,NA,NA;0.285714;5,2;Heterozygous
33;8;19:49949918;C/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;47;NA;PIH1D1;stop_gained;NM_017916.2:c.721G>T;NP_060386.1:p.Glu241Ter;NA,NA,NA,NA,NA,NA,NA,NA,NA,NA,NA;0.4;3,2;Heterozygous
11;17;12:133235868;GGGGAGCCCTCACCTCTCCGTGACA/-;NA;NA;3.19E-05;1;0;NA;35;Uncertain significance (1);POLE;splice_donor_variant;NM_006231.3:c.3264_3275+13del;NP_006222.2:p.?;"Cutaneous melanoma (8); Colorectal adenoma/carcinoma (4); Endometrioid endometrial carcinoma (4); Colorectal cancer (3); Cancer (2); Adenomatous polyposis coli (1); Facial dysmorphism, immunodeficiency, livedo & short stature (1); Polymerase proofreading-associated polyposis (1)";0.5;2,2;Heterozygous
33;8;12:133252321;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;44;NA;POLE;stop_gained;NM_006231.3:c.1106G>A;NP_006222.2:p.Trp369Ter;"Cutaneous melanoma (8); Colorectal adenoma/carcinoma (4); Endometrioid endometrial carcinoma (4); Colorectal cancer (3); Cancer (2); Adenomatous polyposis coli (1); Facial dysmorphism, immunodeficiency, livedo & short stature (1); Polymerase proofreading-associated polyposis (1)";0.5;2,2;Heterozygous
17;21;3:53215622;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;39;NA;PRKCD;stop_gained;NM_006254.3:c.539G>A;NP_006245.2:p.Trp180Ter;"B-cell deficiency & severe autoimmunity (1); B-cell lymphoproliferative syndrome (1); Protein kinase C delta deficiency (1); Systemic lupus erythematosus (1); Systemic lupus erythematosus, early-onset (1)";0.5;2,2;Heterozygous
30;7;3:53195592;G/A;NA;NA;NA;NA;NA;NA;10.22;NA;PRKCD;splice_donor_variant;NM_006254.3:c.-132+148G>A;NA;"B-cell deficiency & severe autoimmunity (1); B-cell lymphoproliferative syndrome (1); Protein kinase C delta deficiency (1); Systemic lupus erythematosus (1); Systemic lupus erythematosus, early-onset (1)";0.5;2,2;Heterozygous
8;15;5:38949496;G/-;NA;NA;NA;NA;NA;NA;21.5;NA;RICTOR;frameshift_variant;NM_001285439.1:c.4170delC;NP_001272368.1:p.Arg1391Glyfs*3;NA;0.5;2,2;Heterozygous
9;15;5:38942934;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;RICTOR;splice_donor_variant;NM_001285439.1:c.5124+1G>A;NA;NA;0.333333;4,2;Heterozygous
23;26;8:10465004;CTGCCTCTGGGGCCTCTATACCTTCTGACTCTGGCTGGGCCTCCCCTTCTGCCTCTGGGGCCTCTACACCTTCTAACTCTGGTTGGGCCTCCTC/-;NA;NA;NA;NA;NA;NA;40;NA;RP1L1;frameshift_variant;NM_178857.5:c.6511_6604del;NP_849188.4:p.Glu2171Lysfs*8;"Macular dystrophy, occult (21); Retinitis pigmentosa (9); Cone dystrophy, autosomal recessive (1); Macular dystrophy, occult, with bilateral chronic subfoveal serous retinal detachment (1); Retinitis pigmentosa & rod cone dystrophy (1)";0.285714;5,2;Heterozygous
24;27;8:10465312;TCTGATTCTGGCTGGGCCTCCCCTTCTGCCTCCTGGGCATCTACATCTTCTGACTCTGGGTGGGCCTCCCCTTCTGCCTCCTGGACCTCCCCTTCAGCCTCCTGTGCCTCCTCTTCTGCCTCCGGGGCCTCTACACC/-;NA;NA;NA;NA;NA;NA;40;NA;RP1L1;frameshift_variant;NM_178857.5:c.6160_6296del;NP_849188.4:p.Gly2054Argfs*23;"Macular dystrophy, occult (21); Retinitis pigmentosa (9); Cone dystrophy, autosomal recessive (1); Macular dystrophy, occult, with bilateral chronic subfoveal serous retinal detachment (1); Retinitis pigmentosa & rod cone dystrophy (1)";0.5;4,4;Heterozygous
19;24;11:64135867;GGCGGGGCCGCGGGGCTACCAGGTGGGACCTCTGACGCGCCGCCTTCGCCTTCGCCTTCGCCTTCGCCTCCAGGACTCGCCCTTCTTCCAGCAGTACGAGCTGGACCTGCGGGAGCCTGCGCTGGGCCAGGGCAGCTTTTCTGTGTGTCGCCGCTGCCGCCAGCGCCAGAGCGGCCAGGAGTTCGCAGTCAAGATCCTCAGTCGCAGGTGGGAGGGCCCAGGCGCGGGCAGGGGTGGGGGTGGCAGAGCGCTGTCCCGGG/-;NA;NA;NA;NA;NA;NA;40;NA;RPS6KA4;frameshift_variant;NM_003942.2:c.1201-63_1334+63del;NP_003933.1:p.Asp401Alafs*191;NA,NA;0.375;5,3;Heterozygous
30;7;11:64138809;CCCCTGGCCAAGCGGCGGAAGCAGAAGCTGCGGAGCGCCACCGCCTCCCGCCGGGGCTCCCCTGCACCAGCCAACCCGGGCCGAGCCCCCGTCGCCTCCAAAGGGGCCCCCCGCCGAGCCAACGGCCCCCTGCC/-;NA;NA;NA;NA;NA;NA;42;NA;RPS6KA4;frameshift_variant;NM_003942.2:c.2176_2309del;NP_003933.1:p.Ala728Leufs*31;NA;0.5;3,3;Heterozygous
9;15;3:101044880;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;43;NA;SENP7;stop_gained;NM_020654.4:c.3060G>A;NP_065705.3:p.Trp1020Ter;NA;0.4;3,2;Heterozygous
30;7;3:101051613;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;33;NA;SENP7;splice_donor_variant;NM_020654.4:c.2573+1G>A;NA;NA;0.5;2,2;Heterozygous
2;10;15:44876580;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;35;NA;SPG11;stop_gained;NM_025137.3:c.5298G>A;NP_079413.3:p.Trp1766Ter;"Spastic paraplegia, autosomal recessive (102); Spastic paraplegia (53); Spastic paraplegia with thin corpus callosum (39); Amyotrophic lateral sclerosis (14); Amyotrophic lateral sclerosis, sporadic (7); Kjellin syndrome (6); Parkinson disease (6); Spastic paraplegia 11 (5); Motor neuron disease, juvenile (4); Amyotrophic lateral sclerosis, familial (2); Amyotrophic lateral sclerosis, juvenile (2); Charcot-Marie-Tooth disease 2, autosomal recessive (2); Spastic paraplegia 11 & dementia (2); Spastic paraplegia with thin corpus callosum, atypical (2); Alzheimer disease (1); Dystonia, juvenile, and parkinsonism (1); Flail leg syndrome (1); Spastic paraplegia, atypical (1)";0.285714;5,2;Heterozygous
30;7;15:44955592;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;35;NA;SPG11;stop_gained;NM_025137.3:c.254G>A;NP_079413.3:p.Trp85Ter;"Spastic paraplegia, autosomal recessive (102); Spastic paraplegia (53); Spastic paraplegia with thin corpus callosum (39); Amyotrophic lateral sclerosis (14); Amyotrophic lateral sclerosis, sporadic (7); Kjellin syndrome (6); Parkinson disease (6); Spastic paraplegia 11 (5); Motor neuron disease, juvenile (4); Amyotrophic lateral sclerosis, familial (2); Amyotrophic lateral sclerosis, juvenile (2); Charcot-Marie-Tooth disease 2, autosomal recessive (2); Spastic paraplegia 11 & dementia (2); Spastic paraplegia with thin corpus callosum, atypical (2); Alzheimer disease (1); Dystonia, juvenile, and parkinsonism (1); Flail leg syndrome (1); Spastic paraplegia, atypical (1)";0.333333;4,2;Heterozygous
24;27;19:56005004;GCGCCGGCCGCCTGGAGGTCTGGCACGGGGGTCGCTGGGGGTCGGTGTGTGACGACGCCTGGGACCTGCGAGACGCCGCTGTGGCCTGCCGAGAGCTGGGCTGCGGAGGG/-;NA;NA;NA;NA;NA;NA;40;NA;SSC5D;frameshift_variant;NM_001144950.1:c.938_1047del;NP_001138422.1:p.Leu317Profs*39;NA;0.4;3,2;Heterozygous
30;7;19:56029310;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;35;NA;SSC5D;stop_gained;NM_001144950.1:c.3667C>T;NP_001138422.1:p.Gln1223Ter;NA;0.333333;4,2;Heterozygous
17;21;5:100191888;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;39;NA;ST8SIA4;stop_gained;NM_005668.5:c.716G>A;NP_005659.1:p.Trp239Ter;NA;0.333333;4,2;Heterozygous
24;27;5:100222137;CTGCGATTCTTCATTGGTGAAACTTCAGGTAGGAGGCTATGTAGATCATGAGAAATGTTTAGTGTCCGGCG/-;NA;NA;NA;NA;NA;NA;37;NA;ST8SIA4;frameshift_variant;NM_005668.5:c.343_413del;NP_005659.1:p.Arg115Valfs*2;NA;0.285714;5,2;Heterozygous
17;21;3:52535718;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;33;NA;STAB1;stop_gained;NM_015136.2:c.280C>T;NP_055951.2:p.Gln94Ter;NA;0.285714;5,2;Heterozygous
24;27;3:52546261;TGGGGCTGGGTGGCTGGACAGGCAGAAAGATGGGGGAGGGAGGGGCCCAGCTGCCATCTGGTTCTGAATGGAGGCCCTTTCTCACTCCCACCCCAGGCCACCTGCCGGGCAG/-;NA;NA;NA;NA;NA;NA;37;NA;STAB1;splice_acceptor_variant;NM_015136.2:c.2884-96_2899del;NP_055951.2:p.?;NA;0.4;3,2;Heterozygous
30;7;2:33012050;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;29.1;NA;TTC27;splice_acceptor_variant;NM_017735.4:c.1833-1G>A;NA;NA;0.285714;5,2;Heterozygous
33;8;2:33045991;C/T;NA;NA;0.000318613;10;0;2 of 6 Predicted as Damaging;39;NA;TTC27;stop_gained;NM_017735.4:c.2518C>T;NP_060205.3:p.Arg840Ter;NA;0.642857;5,9;Heterozygous
24;27;14:38091659;CCAGGCCCTGAAAAAGCCCCCAGTCATCGCCTCGGGGTTCGGCACGGCCAGACCCGTGGTCCTGCTGCCTCCGCCCGAGCCACCCGTGAAGCGCAGAGCGCGCGGGGTCTTGGAGAGCTCGCGGCACGCGGCTC/-;NA;NA;NA;NA;NA;NA;35;NA;TTC6;frameshift_variant;NM_001310135.1:c.438_571del;NP_001297064.1:p.Leu149Glyfs*157;Anorectal malformation (1);0.5;3,3;Heterozygous
24;27;14:38295385;GGAAAATTATTTTAGGCCCAA/-;NA;NA;0.0032182;101;0;NA;35;NA;TTC6;splice_acceptor_variant;NM_001310135.1:c.5023-7_5036del;NP_001297064.1:p.?;Anorectal malformation (1);0.5;2,2;Heterozygous
24;27;19:55995633;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;40;NA;ZNF628;stop_gained;NM_033113.2:c.3073C>T;NP_149104.3:p.Gln1025Ter;NA;0.5;2,2;Heterozygous
28;6;19:55993241;CGCCGCCCCCGCCCCGGGTACCGCCTCCGCGGCCCCGCCCCCCCAGTCCCGGGAGCCCGGCAAGGTCTTCGTGTGCGACGCCTACCTGCAGCGGCACCTCCAGCCCCACAGCCCGCCCGCGCCTCCCGCCC/-;NA;NA;NA;NA;NA;NA;36;NA;ZNF628;frameshift_variant;NM_033113.2:c.681_811del;NP_149104.3:p.Gly233Alafs*5;NA;0.6;2,3;Heterozygous
16;21;12:9258924;T/-;NA;NA;NA;NA;NA;NA;15.13;NA;A2M;frameshift_variant;NM_000014.5:c.1012delA;NP_000005.2:p.Arg338Glyfs*10;"Alzheimer disease, association with (4); Autism (1); Chronic obstructive pulmonary disease (1)";0.5;2,2;Heterozygous
24;27;9:107546602;A/C;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;42;NA;ABCA1;stop_gained;NM_005502.3:c.6780T>G;NP_005493.2:p.Tyr2260Ter;"HDL deficiency (62); Tangier disease (59); Reduced plasma HDL cholesterol (51); Reduced total cholesterol (9); Increased plasma HDL cholesterol (7); Low HDL cholesterol (5); Increased total cholesterol (4); Increased risk of coronary artery disease, association with (3); Altered HDL cholesterol levels (2); Hypercholesterolaemia (2); Alzheimer's disease, association with (1); Atherosclerosis, association with (1); Autism spectrum disorder (1); Coronary artery disease, increased risk (1); Coronary heart disease, increased risk, association with (1); Coronary heart disease, premature, association with (1); High HDL cholesterol (1); Increased risk of ischemic heart disease (1); Increased triglyceride levels (1); Reduced risk of coronary artery disease, association with (1); Scott syndrome (1)";0.4;3,2;Heterozygous
2;10;17:66880507;G/A;NA;NA;3.19E-05;1;0;1 of 6 Predicted as Damaging;23.9;NA;ABCA8;stop_gained;NM_001288985.1:c.3580C>T;NP_001275914.1:p.Arg1194Ter;Low HDL cholesterol (1);0.333333;6,3;Heterozygous
35;26;7:20691041;A/G;Likely Benign;Ingen relevant klinik.;0.000573175;18;0;2 of 6 Predicted as Damaging;26.1;NA;ABCB5;splice_acceptor_variant;NM_001163941.1:c.1333-2A>G;NA;"Autism spectrum disorder (1); Haloperidol-induced toxicity, association with (1); Melanoma, reduced risk, association with (1)";0.540541;17,20;Heterozygous
17;21;16:48155631;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;35;NA;ABCC12;stop_gained;NM_033226.2:c.1708C>T;NP_150229.2:p.Gln570Ter;"Autism spectrum disorder (1); Bladder cancer (1)";0.4;3,2;Heterozygous
28;6;12:39979966;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;41;NA;ABCD2;stop_gained;NM_005164.3:c.1780C>T;NP_005155.1:p.Gln594Ter;NA;0.333333;4,2;Heterozygous
14;19;1:94943848;-/T;NA;NA;NA;NA;NA;NA;25.6;NA;ABCD3;frameshift_variant;NM_002858.3:c.662dupT;NP_002849.1:p.Leu221Phefs*33;"Zellweger syndrome (2); Hepatosplenomegaly & severe liver disease (1)";0.8;1,4;Heterozygous
17;21;2:27353134;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;ABHD1;stop_gained;NM_032604.3:c.856C>T;NP_115993.3:p.Gln286Ter;NA;0.285714;5,2;Heterozygous
17;21;17:47297317;T/C;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;25.1;NA;ABI3;splice_donor_variant;NM_016428.2:c.644+2T>C;NA;NA,NA,NA;0.4;3,2;Heterozygous
17;21;12:121175736;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;44;NA;ACADS;stop_gained;NM_000017.3:c.569G>A;NP_000008.1:p.Trp190Ter;"Acyl-CoA-dehydrogenase deficiency (78); Ethylmalonic aciduria, association with (2); Red blood cell traits, association with (1)";0.333333;4,2;Heterozygous
17;21;17:7247070;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;33;NA;ACAP1;splice_donor_variant;NM_014716.3:c.573+1G>A;NA;NA;0.333333;4,2;Heterozygous
30;7;14:23548040;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;40;NA;ACIN1;stop_gained;NM_014977.3:c.2170C>T;NP_055792.1:p.Gln724Ter;NA;0.4;3,2;Heterozygous
34;2;17:40048483;GCATAGTTCATGGTCCCCACCCCCCACCCTCCAGAGCCCAGTGATCTACCTGG/-;NA;NA;0.00577428;176;0;NA;28.2;NA;ACLY;splice_donor_variant;NM_001096.2:c.1767_1770+49del;NP_001087.2:p.?;"Multiple sclerosis, protection, association with (1); Sepsis, modifier of (1)";0.26087;17,6;Heterozygous
17;21;19:39590890;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;36;NA;ACP7;stop_gained;NM_001004318.2:c.529C>T;NP_001004318.2:p.Gln177Ter;NA;0.4;3,2;Heterozygous
16;21;11:125547748;CCTGAAGGCTGTTCACCCGAGGCCTGCTCACCAGAAGGCTGTTCACCGGAGCCATGTTCACCTGAAGGCTGTTCATCTGAAGGCTGTTCACCTGACTCAAGCTCACTCAAAGGCTGTTCTCCGGAGAGGTGTTCACCTGAAGGCTGTTCT/-;NA;NA;NA;NA;NA;NA;11.6852;NA;ACRV1;splice_donor_variant;NM_001612.5:c.348_497del;NP_001603.1:p.Gln118_Glu167del;NA;0.6;2,3;Heterozygous
24;27;17:48541228;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;40;NA;ACSF2;stop_gained;NM_001288968.1:c.1171C>T;NP_001275897.1:p.Gln391Ter;NA,NA,NA;0.5;2,2;Heterozygous
33;8;20:37394060;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;43;NA;ACTR5;stop_gained;NM_024855.3:c.1192C>T;NP_079131.3:p.Gln398Ter;NA;0.4;3,2;Heterozygous
30;7;2:158655938;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;33;NA;ACVR1;splice_donor_variant;NM_001105.4:c.67+1G>A;NA;"Fibrodysplasia ossificans progressiva (15); Atrioventricular septum defects (1); Congenital heart defect in Down's syndrome patient (1); Skeletal dysplasia (1)";0.4;3,2;Heterozygous
23;26;17:42837109;TGCTGGAGCTCTGCGATGGGGGGGCTTACCCCAGCTGGGAGGCCCAGGAGCCCCTGAGGTCACGGAACCCAGCCGTCTGGTTAGGGAGAGCTCCGGGGGAGAGGTCCGAAAGCAGCAGCTGGACACAAGGGTCCGCCAGGAGCCACCAGGGGGCCCGGTGAGTGGGGCTGGGTGGTGAGGCCAGGGGCTGAAGCAGGCCTCAGAGCCCCAGGAAGCCCACGGGGTAACCAGGGTTGGAGTCCCCCTCAGCAGCTGCCCCGCAGGGTCCCCTTCTGTACAGTGGGCTATCCGGTGGG/-;NA;NA;NA;NA;NA;NA;36;NA;ADAM11;splice_donor_variant;NM_002390.5:c.90_237+148del;NP_002381.2:p.?;NA;0.4;3,2;Heterozygous
33;8;2:207308671;CGGCCCCGCCGGCTCGGTGCCTGCCAGCGCCCCGGCCCGCACGCCGCCCTGCCGCCTGCTTCTCGTCCTTCTCCTGCTGCCTCCGCTCGCCGCCTCGTCC/-;NA;NA;NA;NA;NA;NA;36;NA;ADAM23;frameshift_variant;NM_003812.3:c.90_189del;NP_003803.1:p.Gly31Profs*105;NA;0.428571;4,3;Heterozygous
8;15;5:33649073;T/C;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;33;NA;ADAMTS12;splice_acceptor_variant;NM_030955.3:c.1335-2A>G;NA;NA;0.5;2,2;Heterozygous
17;21;5:178699911;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;33;NA;ADAMTS2;splice_donor_variant;NM_014244.4:c.688+1G>A;NA;"Ehlers-Danlos syndrome VIIc (6); Ehlers<U+FFFD>Danlos syndrome, dermatosparaxis type (3); Ehlers<U+FFFD>Danlos syndrome, dermatosparaxis type, mild (2)";0.4;3,2;Heterozygous
17;21;12:43887057;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;31;NA;ADAMTS20;splice_acceptor_variant;NM_025003.3:c.868-1G>A;NA;NA;0.8;1,4;Heterozygous
24;27;15:84651599;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;38;NA;ADAMTSL3;stop_gained;NM_207517.2:c.3219G>A;NP_997400.2:p.Trp1073Ter;"NA,Glaucoma, primary congenital (1); Schizophrenia, reduced risk, association with (1)";0.5;2,2;Heterozygous
14;19;14:24792213;GCAGCAGCAGCTTCAGCTCGAAGCTCATGTGCAGAAAGAGGGAGCAGGAGAGGAAGCCCAGCGT/-;NA;NA;NA;NA;NA;NA;41;NA;ADCY4;frameshift_variant;NM_139247.3:c.2176_2239del;NP_640340.2:p.Thr726Serfs*39;NA;0.5;2,2;Heterozygous
19;24;3:123166424;GCGTGGCTGCGGCAGCAGCAGGCCCACCACCTGGACGGCCAGCACCACGGCGATGAGCGCATAGCAGGCCAGGCCCATGTGGTCCTGGTGGAAGGCGGCGCGGTTGCAAAGCACAGCCATGATGAGGATCACGCCGACGGCGGCCGCCAGCACGGCCAGGTAGGGCAGCTGGAGCGGGGGCCGCGCC/-;NA;NA;NA;NA;NA;NA;40;NA;ADCY5;frameshift_variant;NM_183357.2:c.783_969del;NP_899200.1:p.Arg263Profs*52;"Autism (3); Alternating hemiplegia of childhood (2); Dyskinesia with facial myokymia (2); Dyskinesia, ADCY5-related (2); Autism and dyskinesia with facial myokymia (1); Dyskinesia, paroxysmal (1); Dystonia, primary torsion (1); Early onset chorea and dystonia (1); Hypotonia, axial (1)";0.5;3,3;Heterozygous
30;7;1:79403835;T/A;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;35;NA;ADGRL4;stop_gained;NM_022159.3:c.526A>T;NP_071442.2:p.Lys176Ter;NA;0.5;2,2;Heterozygous
17;21;20:4229373;CCGCGCCCGCGCTCCCCGGCTCCCCCGCGGAGCTCCGGTTGTCCTCGCCGCTGCCTGCGCCCACCACGCCGCCG/-;NA;NA;NA;NA;NA;NA;36;NA;ADRA1D;frameshift_variant;NM_000678.3:c.159_232del;NP_000669.1:p.Gly54Argfs*36;Sepsis, modifier of (1);0.4;3,2;Heterozygous
33;8;7:150815383;G/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;AGAP3;stop_gained;NM_031946.6:c.793G>T;NP_114152.3:p.Glu265Ter;NA;0.333333;4,2;Heterozygous
30;7;15:86813193;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;41;NA;AGBL1;stop_gained;NM_152336.3:c.1882C>T;NP_689549.3:p.Gln628Ter;Fuchs corneal dystrophy, late-onset (2);0.4;3,2;Heterozygous
34;2;1:247076715;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;32;NA;AHCTF1;splice_acceptor_variant;NM_015446.4:c.403-1G>A;NA;NA;0.448276;16,13;Heterozygous
2;10;11:62301274;C/-;NA;NA;NA;NA;NA;NA;17.65;NA;AHNAK;frameshift_variant;NM_001620.2:c.615delG;NP_001611.1:p.Ile206Serfs*46;"Autism spectrum disorder (3); Hirschsprung disease (2); Congenital heart disease (1); Congenital heart disease with neurodevelopmental disability (1)";0.285714;5,2;Heterozygous
24;27;3:105266333;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;43;NA;ALCAM;stop_gained;NM_001627.3:c.1340G>A;NP_001618.2:p.Trp447Ter;"Chronic obstructive pulmonary disease (2); Breast cancer, increased risk, association with (1); Schizophrenia (1)";0.285714;5,2;Heterozygous
16;21;2:29449941;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;33;NA;ALK;splice_acceptor_variant;NM_004304.4:c.2915-1G>A;NA;"Neuroblastoma (9); Medulloblastoma (2); Neuroblastoma & nephroblastoma (1)";0.5;2,2;Heterozygous
24;27;7:102098068;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;38;NA;ALKBH4;stop_gained;NM_017621.3:c.682C>T;NP_060091.1:p.Gln228Ter;NA;0.4;3,2;Heterozygous
7;14;17:6899559;CGCGCGGGGCGAGGTCAGCGCGGGGAGCGAGGGGAGCTAGGGCAGCGGGGACCCCGGGCCCAGGCCCGGGCCGAGCTGGGCTCGCGGCGGGAGGGCGGGA/-;NA;NA;NA;NA;NA;NA;35;NA;ALOX12;splice_donor_variant;NM_000697.2:c.123_135+87del;NP_000688.2:p.?;NA,Esential hypertension, association with (1);0.666667;2,4;Heterozygous
30;7;17:8020135;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;42;NA;ALOXE3;stop_gained;NM_021628.2:c.311G>A;NP_067641.2:p.Trp104Ter;"Ichthyosis, congenital, autosomal recessive (16); Ichthyosiform erythroderma, nonbullous 1 (3); Ichthyosis with fine/focal scaling (2); Collodion, self-healing (1)";0.5;2,2;Heterozygous
24;27;2:202173873;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;25.8;NA;ALS2CR12;splice_donor_variant;NM_139163.3:c.775+1G>A;NA;NA;0.4;3,2;Heterozygous
33;8;12:85680660;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;44;NA;ALX1;stop_gained;NM_006982.2:c.561G>A;NP_008913.2:p.Trp187Ter;"Microphthalmia with facial clefting (2); Autism spectrum disorder (1); Mental retardation, language delay & microcephaly (1)";0.285714;5,2;Heterozygous
32;8;5:34007835;CCGCGGGAACTTCCCGAGAGCAGCCCGCGGGGCCCGGGCTCACCGCGGCGGAAGGGCTCCAGCAGCACATCCGACCGCTTGCACAGACGCCGCAGCACGGCGGCTCC/-;NA;NA;NA;NA;NA;NA;49;NA;AMACR;splice_donor_variant;NM_014324.5:c.184_247+43del;NP_055139.4:p.?;"Alpha methylacyl CoA racemase deficiency (5); Complex I deficiency (3); Advanced distal colorectal adenoma, increased risk, association (2); Altered splicing (1); Prostate cancer risk, association with (1),NA";0.4;3,2;Heterozygous
28;6;2:190559767;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;ANKAR;stop_gained;NM_144708.3:c.1368G>A;NP_653309.3:p.Trp456Ter;NA;0.333333;4,2;Heterozygous
33;8;5:74444400;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;28.4;NA;ANKRD31;splice_donor_variant;NM_001164443.1:c.1905+1G>A;NA;Rett-like syndrome (1);0.285714;5,2;Heterozygous
28;6;2:71205718;GGGCGCCGGCGGGTGTGTGAGTAGCCCGCCCGGCCCGGGTCCGAGTTCCAGCCCCGCGATGGCCTCCGCGGGCAGCACCGCTCGGCGGGCGGGCTCCGGAAGCTGGCACTCAGAAAGGGGAGAAGGGAGAGGTGCTCGGCCGCAGCCAACTCCAAGTGGCTCCATGCAGCAGGCGAACAAAGTCTCCTTGAAGGCCACCTGGACTGACGCGGAGTCCAAGCAGCCCAGGTGGGTAGCGGGAGAAGGTGTCCCGGCTGCA/-;NA;NA;NA;NA;NA;NA;35;NA;ANKRD53;frameshift_variant;NM_001115116.1:c.-58_170+31del;NP_001108588.1:p.Met1Argfs*528;NA;0.333333;6,3;Heterozygous
24;27;9:75784032;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;44;NA;ANXA1;stop_gained;NM_000700.2:c.946C>T;NP_000691.1:p.Gln316Ter;Autism spectrum disorder (3);0.333333;4,2;Heterozygous
28;6;15:60674540;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;ANXA2;splice_donor_variant;NM_001002858.2:c.202+1G>A;NA;NA;0.5;2,2;Heterozygous
24;27;16:71768604;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;44;NA;AP1G1;stop_gained;NM_001030007.1:c.2284C>T;NP_001025178.1:p.Gln762Ter;Obsessive-compulsive disorder (1);0.4;3,2;Heterozygous
17;21;5:115205823;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;45;NA;AP3S1;stop_gained;NM_001284.3:c.271C>T;NP_001275.1:p.Gln91Ter;NA;0.4;3,2;Heterozygous
23;26;12:99043382;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;APAF1;stop_gained;NM_181861.1:c.446G>A;NP_863651.1:p.Trp149Ter;"Major depression (4); Reduced function (4); Depression (2)";0.4;3,2;Heterozygous
8;15;11:116692389;G/A;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;35;NA;APOA4;stop_gained;NM_000482.3:c.385C>T;NP_000473.2:p.Arg129Ter;"Hyperlipidaemia (3); Triglyceride levels, association with (2); Arteriosclerosis (1)";0.5;2,2;Heterozygous
30;7;4:36230364;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;ARAP2;stop_gained;NM_015230.3:c.745C>T;NP_056045.2:p.Gln249Ter;NA;0.285714;5,2;Heterozygous
25;3;20:47612319;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;ARFGEF2;splice_acceptor_variant;NM_006420.2:c.3122-1G>A;NA;"Periventricular heterotopia with microcephaly (3); Choreadystonic movement disorder and periventricular heterotopia (2); Diaphragmatic hernia, congenital (1); Global developmental delay, epilepsy and hydrocephalus (1); Landau-Kleffner syndrome (1); Movement disorder, developmental delay, microcephaly and cardiomyopathy (1); Periventricular nodular heterotopia with dystonia (1); West syndrome, microcephaly, periventricular heterotopia, small corpus callosum & psychomotor retardation (1)";0.4;3,2;Heterozygous
34;2;15:32928830;C/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;35;NA;ARHGAP11A;stop_gained;NM_014783.5:c.1856C>A;NP_055598.1:p.Ser619Ter;Cancer (1);0.392857;17,11;Heterozygous
7;14;6:129905233;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;45;NA;ARHGAP18;stop_gained;NM_033515.2:c.1738C>T;NP_277050.2:p.Arg580Ter;NA;0.4;3,2;Heterozygous
33;8;17:12852965;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;ARHGAP44;splice_acceptor_variant;NM_014859.5:c.974-1G>A;NA;NA;0.285714;5,2;Heterozygous
9;15;1:3394390;CCCCCCAGTCCCTCGCACTGATCTCCGCCTCCCGGCTCTGT/-;NA;NA;NA;NA;NA;NA;10.34;NA;ARHGEF16;splice_acceptor_variant;NM_014448.3:c.1474-35_1479del;NP_055263.2:p.?;NA;0.5;2,2;Heterozygous
24;27;5:149011596;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;ARHGEF37;stop_gained;NM_001001669.2:c.1870C>T;NP_001001669.2:p.Gln624Ter;NA;0.5;2,2;Heterozygous
34;2;9:35665124;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;39;NA;ARHGEF39;stop_gained;NM_032818.2:c.43C>T;NP_116207.2:p.Gln15Ter;NA;0.333333;28,14;Heterozygous
7;14;1:27023927;GCGGCGGCGGCCGCCTCGGGAGGGGCCCAACAAAGGAGCCACCACGCGCCCATGAGCCCCGGGAGCA/-;NA;NA;NA;NA;NA;NA;36;NA;ARID1A;frameshift_variant;NM_006015.4:c.1043_1109del;NP_006006.3:p.Ala348Glyfs*21;"Coffin-Siris syndrome (12); Intellectual disability and hexadactyly (1)";0.5;2,2;Heterozygous
33;8;6:157099913;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;Pathogenic (1);ARID1B;stop_gained;NM_020732.3:c.850C>T;NP_065783.3:p.Gln284Ter;"Coffin-Siris syndrome (69); Intellectual disability (15); Autism spectrum disorder (10); Intellectual disability & speech impairment (6); Corpus callosum abnormalities in intellectual disability patients (5); Intellectual disability, plantar fat pads & facial dysmorphism (5); Short stature, non-syndromic (4); Autism (3); Corpus callosum anomalies in intellectual disability patients (2); Nicolaides-Baraitser syndrome (2); Short stature & developmental delay (2); Coffin-Siris syndrome with obesity and hyperinsulinism (1); Cornelia de Lange syndrome (1); Cornelia de Lange syndrome/Bohring-Opitz syndrome (1); Developmental delay, dysmorphic features, dysgenesis of the corpus callosum, limb anomalies & genital hypoplasia (1); Developmental delay, speech impairment & intellectual disability (1); Developmental delay, speech impairment, dysmorphic features, dysgenesis of the corpus callosum, limb anomalies & hearing loss (1); Hirschsprung disease (1); Intellectual disability & agenesis of corpus callossum (1); Intellectual disability & dysmorphic features (1); Intellectual disability and hypoplasia of corpus callosum (1); Intellectual disability, corpus callosum abnormalities, speech impairment & autism (1); Neurodevelopmental delay, short stature and dysmorphic features (1); Neurodevelopmental disorder, severe (1); Schizophrenia (1)";0.333333;4,2;Heterozygous
14;19;2:152684624;CCCGCGGACCGAGCTCCTCACCCTGGTGATTGAACAGTCTCCATATTCTAGTGAAGAGAATTCCCATTCTCGGGCAGCGGACCCCCCCCCTCCAGACA/-;NA;NA;NA;NA;NA;NA;43;NA;ARL5A;frameshift_variant;NM_012097.3:c.-31_46+21del;NP_036229.1:p.Met1Cysfs*14;NA;0.5;2,2;Heterozygous
17;21;17:37313179;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;ARL5C;stop_gained;NM_001143968.1:c.508C>T;NP_001137440.1:p.Gln170Ter;NA;0.333333;4,2;Heterozygous
33;8;12:123466618;C/-;NA;NA;NA;NA;NA;NA;25.7;NA;ARL6IP4;frameshift_variant;NM_018694.3:c.1137delC;NP_061164.3:p.Arg380Glyfs*10;NA;0.333333;4,2;Heterozygous
30;7;11:13379994;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;38;NA;ARNTL;stop_gained;NM_001297719.1:c.235C>T;NP_001284648.1:p.Gln79Ter;NA;0.5;2,2;Heterozygous
8;15;11:3661028;G/A;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;45;NA;ART5;stop_gained;NM_053017.4:c.631C>T;NP_443750.2:p.Gln211Ter;NA;0.4;3,2;Heterozygous
32;8;2:239335672;CGTGCGCGGGTCAGGGGCGGCCGCGGAGGCGGAAGCATCCATGGCGGAGGGCGGCAGCCCAGACGGGCGGGCAGGGCCGGGCTCCGCAGGTAA/-;NA;NA;NA;NA;NA;NA;16.3848;NA;ASB1;frameshift_variant;NM_001040445.2:c.-32_49+12del;NP_001035535.1:p.Met1Argfs*336;Autism (1);0.5;2,2;Heterozygous
19;24;10:73892852;AGCATGCAGTTTCACACTATTCCACTCTTTCACTATTAGTCCAGATGCCTGAAAACGTTCCAGCACTCGATCAACTAATTCTTGTAGCCTGGAGAAATTGGAGAAAAGTAATGCAGAAATCTTAGTAAACTTCTGAACATGCGATTACCAATTCAACAATGTTTATGG/-;NA;NA;NA;NA;NA;NA;15.6221;NA;ASCC1;splice_acceptor_variant;NM_001198799.2:c.831-80_918del;NP_001185728.1:p.?;"Barrett oesophagus/oesophageal adenocarcinoma (1); Spinal muscular atrophy & congenital bone fractures (1)";0.4;3,2;Heterozygous
17;21;4:156763507;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;33;NA;ASIC5;splice_acceptor_variant;NM_017419.2:c.862-1G>A;NA;NA;0.5;2,2;Heterozygous
14;19;8:124384876;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;27.7;NA;ATAD2;splice_donor_variant;NM_014109.3:c.370+1G>A;NA;NA;0.5;2,2;Heterozygous
14;19;14:96797730;G/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;38;NA;ATG2B;stop_gained;NM_018036.6:c.1713C>A;NP_060506.5:p.Cys571Ter;Myeloid malignancies (1);0.5;2,2;Heterozygous
17;21;2:216191653;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;44;NA;ATIC;stop_gained;NM_004044.6:c.640C>T;NP_004035.2:p.Gln214Ter;AICA-Ribosiduria (2);0.285714;5,2;Heterozygous
17;21;1:116926747;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;ATP1A1;splice_donor_variant;NM_000701.7:c.123+1G>A;NA;Prostate cancer (1);0.5;2,2;Heterozygous
24;27;19:41939478;C/-;NA;NA;NA;NA;NA;NA;18.46;NA;ATP5SL;frameshift_variant;NM_001167867.1:c.415delG;NP_001161339.1:p.Asp139Thrfs*15;Altered splicing (1);0.5;2,2;Heterozygous
14;19;8:20068735;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;40;NA;ATP6V1B2;stop_gained;NM_001693.3:c.511C>T;NP_001684.2:p.Gln171Ter;"Dominant deafness-onychodystrophy syndrome (1); Zimmermann-Laband syndrome (1)";0.5;2,2;Heterozygous
9;15;15:50339547;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;ATP8B4;splice_donor_variant;NM_024837.3:c.201+1G>A;NA;Systemic sclerosis, association with (1);0.5;2,2;Heterozygous
7;14;20:54961449;T/-;NA;NA;NA;NA;NA;NA;1.911;NA;AURKA;frameshift_variant;NM_003600.3:c.183delA;NP_003591.2:p.Gln62Lysfs*31;"Breast cancer (2); Oesophageal cancer, association with (2); Intellectual disability/developmental delay (1)";0.5;2,2;Heterozygous
2;10;1:179497566;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;48;NA;AXDND1;stop_gained;NM_144696.5:c.2715G>A;NP_653297.3:p.Trp905Ter;NA,NA,NA;0.285714;5,2;Heterozygous
24;27;11:62388069;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;B3GAT3;stop_gained;NM_012200.3:c.157C>T;NP_036332.2:p.Gln53Ter;"Severe osteopenia & fractures (2); Short stature, cardiac & skeletal abnormalities, blue sclerae, hyperopia & loose skin (2); Larsen-like syndrome, B3GAT3 type (1); Multiple fractures, blue sclerae & glaucoma (1); Skeletal dysplasia (1); Spondyloepimetaphyseal dysplasia, cutis laxa and osteoporosis (1)";0.4;3,2;Heterozygous
17;21;19:41932470;A/-;NA;NA;NA;NA;NA;NA;25.3;NA;B3GNT8;frameshift_variant;NM_198540.2:c.214delT;NP_940942.1:p.Tyr72Thrfs*96;NA;0.5;2,2;Heterozygous
30;7;17:80963020;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;B3GNTL1;stop_gained;NM_001009905.2:c.475C>T;NP_001009905.1:p.Gln159Ter;NA;0.4;3,2;Heterozygous
14;19;21:42647316;-/C;NA;NA;NA;NA;NA;NA;23.1;NA;BACE2;frameshift_variant;NM_012105.4:c.1321_1322insC;NP_036237.2:p.Val441Alafs*3;NA;0.5;2,2;Heterozygous
33;8;21:42551104;-/C;NA;NA;0.00436173;90;0;NA;7.959;NA;BACE2,PLAC4;stop_lost;NM_012105.4:c.312+10602dupC,NM_182832.2:c.452dupG;,NP_878252.2:p.Ter151Trpext*52;NA,NA;0.444444;5,4;Heterozygous
8;15;22:18226543;GGAAGGAGGTGGGGCCGGCCGCCTACCTGCCTCTATTCTTCCCAAGCGGGAGTGGCTGCTGCGGTTGCCATCAGTCTGCAGCTCATCGTAGCCCTCCCACTGGGGAGCCAGCACTGGCAGCTCGTGGCCCAGTGCGTCCAGCTCTCTGCGGAAGCTGTTGTCAGAACAGCTTTGGA/-;NA;NA;NA;NA;NA;NA;39;NA;BID;splice_donor_variant;NM_197966.2:c.212_361+26del;NP_932070.1:p.?;NA;0.428571;4,3;Heterozygous
8;15;15:91312669;G/-;NA;NA;NA;NA;NA;NA;50;NA;BLM;frameshift_variant;NM_000057.3:c.2411delG;NP_000048.1:p.Gly804Aspfs*11;"Bloom syndrome (79); Breast cancer (2); Poor prognosis in neuroblastoma (2); Breast cancer, increased risk (1); Ovarian cancer (1); Pancreatic cancer (1); Prostate cancer (1); Rectal cancer, association with (1)";0.5;2,2;Heterozygous
30;7;20:31598909;GCTTCAGCCCACCAGGTGAGTGCTCCCCTCCTCCAGAGAAGGTGCTCCTGCCACCAAGTGGAGTGTTCCTGCTTGCCAGGTGGGT/-;NA;NA;NA;NA;NA;NA;36;NA;BPIFB2;splice_donor_variant;NM_025227.2:c.196_203+77del;NP_079503.1:p.?;NA;0.333333;4,2;Heterozygous
33;8;7:140624458;G/A;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;36;NA;BRAF;stop_gained;NM_004333.4:c.46C>T;NP_004324.2:p.Gln16Ter;"Cardio-facio-cutaneous syndrome (49); Noonan syndrome (6); Cardiomyopathy, hypertrophic (1); Costello syndrome (1); Developmental encephalopathy with postnatal growth deficiency (1); Langerhans cell histiocytosis (1); Noonan syndrome / cardio-facio-cutaneous syndrome (1); Thyroid cancer, non-medullary (1)";0.333333;4,2;Heterozygous
33;8;1:92428468;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;BRDT;stop_gained;NM_001242806.2:c.157C>T;NP_001229735.2:p.Gln53Ter;NA;0.4;3,2;Heterozygous
33;8;11:1477896;CCTGCGGCCCAGCACTTGTCAGGTGAGGCGGGCTCAGCTCCGGCCAA/-;NA;NA;NA;NA;NA;NA;55;NA;BRSK2;splice_donor_variant;NM_001256630.1:c.2065_2077+34del;NP_001243559.1:p.?;Autism (1);0.333333;4,2;Heterozygous
17;21;6:26446011;G/A;NA;NA;0.00446172;140;1;2 of 6 Predicted as Damaging;34;NA;BTN3A3;stop_gained;NM_006994.4:c.513G>A;NP_008925.1:p.Trp171Ter;NA;0.3;7,3;Heterozygous
17;21;11:130542970;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;34;NA;C11orf44;stop_gained;NM_001271983.1:c.97C>T;NP_001258912.1:p.Gln33Ter;NA;0.4;3,2;Heterozygous
1;10;11:63535929;GCCCGGGCCGCCGGCCCCAGCTCTTACCGCCTTCGTCTTCCTCTGGCTCCGCGCTGCCGCTCGATCCGGCGGGCGGCAGCCGTCGGCCCCGTGCCGAGGCCACTGCTG/-;NA;NA;NA;NA;NA;NA;14.7688;NA;C11orf95;splice_donor_variant;NM_001144936.1:c.59_139+27del;NP_001138408.1:p.?;NA;0.75;1,3;Heterozygous
8;15;12:103695989;A/C;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;41;NA;C12orf42;stop_gained;NM_198521.3:c.980T>G;NP_940923.2:p.Leu327Ter;NA;0.5;2,2;Heterozygous
17;21;14:52471074;-/AAAC;NA;NA;NA;NA;NA;NA;23;NA;C14orf166;splice_acceptor_variant;NM_016039.2:c.581-5_581-2dupAACA;NA;NA;0.642857;5,9;Heterozygous
17;21;14:105958449;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;C14orf80;stop_gained;NM_001134875.1:c.232C>T;NP_001128347.1:p.Gln78Ter;NA;0.333333;4,2;Heterozygous
17;21;1:11849400;G/A;NA;NA;NA;NA;NA;0 of 6 Predicted as Damaging;35;NA;C1orf167,MTHFR;stop_gained;NM_001010881.1:c.4247G>A,NM_005957.4:c.*1337C>T;NP_001010881.1:p.Trp1416Ter,;"NA,Methylenetetrahydrofolate reductase deficiency (88); Homocystinuria (22); Hyperhomocysteinaemia (3); Reduced enzyme activity (3); Preeclampsia, association with (2); Cardiovascular disease, association with (1); Cleft lip and/or palate, increased risk (1); Coronary heart disease, increased risk, association with (1); Ehlers-Danlos syndrome IV (1); Essential hypertension, association with (1); Facial palsy (1); Inborn errors of metabolism (1); Increased erythrocyte folate concentration, association with (1); Neural tube defect, increased risk, association with (1); Respiratory failure & hypotonia (1)";0.4;3,2;Heterozygous
35;26;1:154171909;TC/-;NA;NA;0.00850427;267;4;NA;34;NA;C1orf189;frameshift_variant;NM_001010979.2:c.299_300delGA;NP_001010979.1:p.Arg100Ilefs;NA,NA,NA;0.56;11,14;Heterozygous
2;10;1:159824517;GGCGCAGCCCGGCCCGGCGCGCGCGCTCACACCAAGAGGCCGTTCTTGCACTGCACCGGCCCCTC/-;NA;NA;NA;NA;NA;NA;42;NA;C1orf204,VSIG8;stop_lost;NM_001134233.1:c.298_332+30del,NM_001013661.1:c.1207_*26del;NP_001127705.1:p.?,NP_001013683.1:p.Glu403Proext*106;NA,NA,NA,NA;0.4;3,2;Heterozygous
33;8;20:1187535;AG/-;NA;NA;0.00162431;51;0;NA;32;NA;C20orf202;frameshift_variant;NM_001009612.2:c.160_161delAG;NP_001009612.1:p.Leu55Profs;NA;0.636364;4,7;Heterozygous
32;8;2:85836127;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;C2orf68;stop_gained;NM_001013649.3:c.442C>T;NP_001013671.2:p.Arg148Ter;NA,NA;0.4;3,2;Heterozygous
24;27;7:47851624;G/A;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;35;NA;C7orf69,PKD1L1;stop_gained;NM_025031.2:c.109-6000G>A,NM_138295.3:c.7372C>T;,NP_612152.1:p.Arg2458Ter;"Heterotaxy & heart malformations (1); Situs inversus totalis & congenital heart disease (1); Subarachnoid haemorrhage, association with (1),NA";0.5;2,2;Heterozygous
24;27;8:67734696;T/C;NA;NA;3.19E-05;1;0;1 of 6 Predicted as Damaging;32;NA;C8orf44-SGK3,SGK3;splice_donor_variant;NM_001204173.1:c.417+2T>C,NM_013257.4:c.417+2T>C;,;NA,NA;0.5;2,2;Heterozygous
17;21;9:116190505;T/G;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;23.3;NA;C9orf43;splice_donor_variant;NM_001278630.1:c.1161+2T>G;NA;NA;0.4;3,2;Heterozygous
8;15;9:114484771;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;47;NA;C9orf84;stop_gained;NM_173521.4:c.1857G>A;NP_775792.4:p.Trp619Ter;NA;0.5;2,2;Heterozygous
2;10;22:30125071;G/-;NA;NA;NA;NA;NA;NA;46;NA;CABP7;frameshift_variant;NM_182527.2:c.394delG;NP_872333.1:p.Glu132Serfs*2;NA;0.4;3,2;Heterozygous
2;10;19:13443701;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;41;NA;CACNA1A;stop_gained;NM_001127221.1:c.1237C>T;NP_001120693.1:p.Gln413Ter;"Episodic ataxia 2 (93); Hemiplegic migraine (19); Episodic ataxia (9); Hemiplegic migraine and episodic ataxia 2 (8); Spinocerebellar ataxia 6 (7); Epilepsy, idiopathic (4); Altered function (3); Cerebellar ataxia (3); Reduced function (3); Epileptic encephalopathy, early onset with progressive cerebellar & optic nerve atrophy (2); Hemiplegic migraine and ataxia (2); Hemiplegic migraine with cerebellar signs (2); Hemiplegic migraine, progressive cerebellar ataxia (2); Learning difficulties, ADHD & mild intellectual disability (2); Paroxysmal tonic upward gaze (2); Ataxia, mental retardation and dyskinesia (1); Benign paroxysmal torticollis of infancy (1); CADASIL (1); Encephalopathy, epileptic (1); Epilepsy of infancy with migrating focal seizures (1); Epilepsy with typical absence seizures (1); Epilepsy, early-onset (1); Epileptic encephalopathy, early onset (1); Episodic ataxia, global developmental delay, and migraine (1); Episodic seizures, ataxia, and migraine with motor regression (1); Head tremor (1); Hemiplegic migraine and chronic headache (1); Hemiplegic migraine, cerebellar dysfunction & cognitive decline (1); Hemiplegic migraine, coma, cerebellar atrophy (1); Hemiplegic migraine/alternating hemiplegia of childhood (1); Huntington-like disease (1); Hypotonia and developmental delay (1); Lennox-Gastaut syndrome (1); Mental retardation & epilepsy with infantile spasms (1); Nystagmus and late-onset ataxia (1); Paroxysmal head tremor, adult-onset (1); Progressive cerebellar ataxia (1)";0.333333;4,2;Heterozygous
2;10;1:181480531;GG/-;NA;NA;NA;NA;NA;NA;31;NA;CACNA1E;frameshift_variant;NM_000721.3:c.398_399delGG;NP_000712.2:p.Gly133Aspfs*5;"NA,NA,Epileptic encephalopathy with infantile spasms (4); Autism (1); Diabetes, type 2, association with (1)";0.4;3,2;Heterozygous
2;10;17:48701334;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;46;NA;CACNA1G;stop_gained;NM_018896.4:c.6127C>T;NP_061496.2:p.Arg2043Ter;"NA,NA,Myoclonic epilepsy, juvenile (2); Cerebellar ataxia, autosomal dominant (1); Intellectual disability (1); Severe intellectual disability, hirsutism, dysmorphic facies and skeletal abnormalities (1)";0.4;3,2;Heterozygous
2;10;3:62860513;GCCGCCGCCTGCACCCACCCCGGCTCCGGCGCCGGCGCCGCCGCCCCCCA/-;NA;NA;NA;NA;NA;NA;35;NA;CADPS;frameshift_variant;NM_003716.3:c.143_192del;NP_003707.2:p.Leu48Argfs*70;"Developmental delay, cleft palate & hypoglycaemia (1); Takotsubo (stress) cardiomyopathy (1)";0.333333;4,2;Heterozygous
32;8;19:13049949;CGGGTGGACTTCCCGCTGGATCGAATCCAAACACAAGTCAGATTTTGGCAAATTCGTTCTCAGTTCCGGCAAGTTCTACGGTGACGAGGAGAAAGATAAAGGTAAGAGCCTAGGAGTGGGTGCTCAGATC/-;NA;NA;NA;NA;NA;NA;42;NA;CALR;splice_donor_variant;NM_004343.3:c.93_193+29del;NP_004334.1:p.?;"Schizoaffective disorder (2); Psychosis, association with (1); Schizophrenia (1)";0.4;3,2;Heterozygous
2;10;1:230907809;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;46;NA;CAPN9;stop_gained;NM_006615.2:c.839G>A;NP_006606.1:p.Trp280Ter;Schizophrenia (1);0.4;3,2;Heterozygous
2;10;19:36636905;C/T;NA;NA;0.000127372;4;0;1 of 6 Predicted as Damaging;35;NA;CAPNS1;stop_gained;NM_001749.3:c.553C>T;NP_001740.1:p.Arg185Ter;NA;0.625;3,5;Heterozygous
17;21;2:203848308;-/A;NA;NA;0.00534988;163;0;NA;26.6;NA;CARF;frameshift_variant;NM_024744.15:c.2146dupA;NP_079020.13:p.Thr716Asnfs*5;NA;0.625;6,10;Heterozygous
16;21;14:24538380;GAAGCCCAAGAGGACACGGCGGGCACAGTCCTGTGACAAGCTGGAACCTGATAGAAGACGGCCTCCTGACCCCACAGGTGCTGGTGGTGAGAGGGCAGGTCCCCCCTTCCCACCTATCTGTCCAACATGACACCCCCC/-;NA;NA;NA;NA;NA;NA;16.3675;NA;CARMIL3;splice_donor_variant;NM_138360.3:c.4017_4093+61del;NP_612369.3:p.?;NA;0.5;3,3;Heterozygous
33;8;1:116247837;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;53;NA;CASQ2;stop_gained;NM_001232.3:c.915G>A;NP_001223.2:p.Trp305Ter;"Ventricular tachycardia, polymorphic (19); Cardiomyopathy, dilated (5); Catecholaminergic polymorphic ventricular tachycardia (3); Brugada syndrome (1); Cardiomyopathy, hypertrophic (1); Cardiomyopathy, non-compaction, left ventricular (1); QRS interval, association with (1)";0.5;2,2;Heterozygous
9;15;16:89017715;-/A;NA;NA;NA;NA;NA;NA;35;NA;CBFA2T3,LOC100129697;frameshift_variant;NM_005187.5:c.151+25350_151+25351insT,NM_001290330.2:c.1188_1189insA;,NP_001277259.1:p.Glu397Argfs*17;NA,NA;0.5;2,2;Heterozygous
19;24;2:197597275;C/T;NA;NA;NA;NA;NA;0 of 6 Predicted as Damaging;36;NA;CCDC150;stop_gained;NM_001080539.1:c.3295C>T;NP_001074008.1:p.Gln1099Ter;NA;0.4;3,2;Heterozygous
2;10;19:49920709;CCCCACCTCCCACCTGG/-;NA;NA;NA;NA;NA;NA;42;NA;CCDC155;frameshift_variant;NM_144688.4:c.1641_1657del;NP_653289.3:p.Thr548Alafs;NA,NA,NA,NA,NA,NA,NA,NA,NA,NA,NA;0.4;3,2;Heterozygous
30;7;17:78064033;GGCACGTGCACGAACAACACGGGACGCGCGCG/-;NA;NA;0.00643706;194;5;NA;0.608;NA;CCDC40;frameshift_variant;NM_017950.3:c.2832+381_2832+412del;NA;"Primary ciliary dyskinesia (31); Immunodeficiency, primary (1)";0.333333;4,2;Heterozygous
24;27;10:32952981;G/A;NA;NA;NA;NA;NA;NA;13.24;NA;CCDC7;splice_acceptor_variant;NM_001321115.1:c.2015-1G>A;NA;NA;0.333333;4,2;Heterozygous
23;26;2:56420318;ACGCCAGGCACAGTGGAGGGAGCCCGGAGCATCTTCAGAAACACGCTCTTGGGGGGAGCCTAGAGCATCTCCCCAGAGCCAGGGGCACCAGCCCGGAGCACCTCAAACAACATTATGGAGGGAGCCCTGATCACAAACACGGAGGAGGCAGTGGAGGAAGTGGAGGCAGCGGCGGAGGCAGCAGGGAGGGCACCCTCAG/-;NA;NA;NA;NA;NA;NA;45;NA;CCDC85A;frameshift_variant;NM_001080433.1:c.986_1184del;NP_001073902.1:p.Ala329Glyfs*18;NA;0.428571;4,3;Heterozygous
9;15;11:64120604;GGCGCGGCTGGAGCTGGAGCGGGCACAGCTGGAGATGCAGAGCCAGCAGCTGCGCGAGTCCAACCAGCAGCTGGACCTGAGCGCCTGCCGGCTGACCACGCAGTGTGA/-;NA;NA;NA;NA;NA;NA;21.7025;NA;CCDC88B;splice_donor_variant;NM_032251.5:c.3581_3687+1del;NP_115627.6:p.?;NA;0.4;3,2;Heterozygous
23;26;14:20784385;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;CCNB1IP1;splice_donor_variant;NM_021178.4:c.297+1G>A;NA;NA;0.333333;4,2;Heterozygous
24;27;10:86273481;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;14.24;NA;CCSER2;stop_gained;NM_001284240.1:c.2602C>T;NP_001271169.1:p.Gln868Ter;NA;0.5;2,2;Heterozygous
25;3;6:74516566;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;33;NA;CD109;splice_acceptor_variant;NM_133493.4:c.2961-1G>A;NA;Haemophilia A, inhibitor development, protection against (1);0.4;3,2;Heterozygous
7;14;19:35828501;GGGAGGGGGAAGCTGAGAGCCGAGTTAGGAGGCTGTGACCATCACCTGGGTGAAGGGACTGGCAGGCCATGGCTTTGTCAGAATAAAAGCACTTTCCACACCCTCCACCCTCTGAGGATTCCCCGCCCCCTCCCCGACTGCCCCTCTGCTCCTCCAGACACCCCGAAGTTGGAGATCAAGGTCACTCCCAGTGATGCCATAGTGA/-;NA;NA;NA;NA;NA;NA;35;NA;CD22;splice_acceptor_variant;NM_001771.3:c.719-147_776del;NP_001762.2:p.?;Limited cutaneous systemic sclerosis, association with (1);0.333333;4,2;Heterozygous
19;24;17:72619756;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;35;NA;CD300E;stop_gained;NM_181449.2:c.5G>A;NP_852114.2:p.Trp2Ter;NA;0.5;2,2;Heterozygous
24;27;13:115016136;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;50;NA;CDC16;stop_gained;NM_003903.4:c.1084C>T;NP_003894.3:p.Gln362Ter;NA;0.285714;5,2;Heterozygous
9;15;20:3777209;GGCTCGGCTCTCAGTCCAGCAGGCGTGTGCGGTGGCGCCCAGCGTCCGGGCCACCTCCCGGGCCTCCTGCTGGGATCTCATGGCCTCCTGGGGTCCCCGGTGCGGGCGGCCGCTTCCTCGCCGGTCACCACCCTCACCCAGACCATGCACGACCTCGCCG/-;NA;NA;NA;NA;NA;NA;37;NA;CDC25B;frameshift_variant;NM_021873.3:c.39_198del;NP_068659.1:p.Leu14Alafs*8;NA;0.6;2,3;Heterozygous
14;19;18:59166530;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;40;NA;CDH20;stop_gained;NM_031891.3:c.358C>T;NP_114097.2:p.Gln120Ter;NA;0.5;2,2;Heterozygous
24;27;6:20955729;C/-;NA;NA;NA;NA;NA;NA;10.44;NA;CDKAL1;frameshift_variant;NM_017774.3:c.823delC;NP_060244.2:p.Leu275Cysfs*7;Hyperinsulism (1);0.4;3,2;Heterozygous
35;26;5:133695647;G/A;NA;NA;3.19E-05;1;0;2 of 6 Predicted as Damaging;36;NA;CDKL3;stop_gained;NM_001113575.1:c.301C>T;NP_001107047.1:p.Arg101Ter;Mental retardation (1);0.5;15,15;Heterozygous
11;17;11:2905873;GCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGC/-;NA;NA;NA;NA;NA;NA;38;NA;CDKN1C;splice_donor_variant;NM_000076.2:c.751_820+27del;NP_000067.1:p.?;"Beckwith-Wiedemann syndrome (63); Silver-Russell syndrome (9); IMAGE syndrome (6); Beckwith-Wiedemann syndrome with cleft palate, sensorineural hearing loss & supernumerary flexion creases (1); Beckwith-Wiedemann syndrome with genital anomalies (1); Intrauterine growth restriction, short stature & early-onset diabetes (1)";0.4;3,2;Heterozygous
17;21;19:42224076;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;33;NA;CEACAM5;stop_gained;NM_004363.5:c.1720C>T;NP_004354.3:p.Gln574Ter;NA;0.333333;4,2;Heterozygous
24;27;15:81213386;TT/-;NA;NA;NA;NA;NA;NA;33;NA;CEMIP;frameshift_variant;NM_018689.2:c.2017_2018delTT;NP_061159.1:p.Phe673Leufs*18;Deafness (4);0.5;2,2;Heterozygous
33;8;11:117265202;GGGAGCAGGTGAGGGGCCTGGGGCAGGGTGAGCCCACTGTGACCCCTCCATGCACAGTAGGAAGGTGCT/-;NA;NA;NA;NA;NA;NA;7.71833;NA;CEP164;splice_donor_variant;NM_014956.4:c.2760+1_2760+69del;NA;"Nephronophthisis-related ciliopathy (5); Pancreatic cancer (2); Schizophrenia (1)";0.4;3,2;Heterozygous
9;15;20:34050260;AGGTGCTGGCACTACAGCAGCAGATGGCAGAGAATCAGGCAGCCTCCTGGCGGAAGCTGAAGAACTCCCAGGAGGCCCAGCAGAGACAAGCAACCCTTGTGAGGAAGCTGCAGGCCAAGGTGAGGCAGCTGCCCTTTTGGGGAGGGGAAAGAGAACAACCCCCAGAGCT/-;NA;NA;NA;NA;NA;NA;37;NA;CEP250;splice_donor_variant;NM_007186.5:c.76_186+58del;NP_009117.2:p.?;"Miscarriage, recurrent (1); Retinitis pigmentosa (1); Usher syndrome, atypical (1)";0.5;2,2;Heterozygous
30;7;6:109421490;G/C;NA;NA;NA;NA;NA;NA;21.7;NA;CEP57L1;splice_donor_variant;NM_001083535.1:c.-60+1G>C;NA;Absence of the anterior or posterior cruciate ligament (1);0.5;2,2;Heterozygous
24;27;17:62522260;-/A;NA;NA;0.000222944;7;0;NA;26;NA;CEP95;frameshift_variant;NM_138363.2:c.1095dupA;NP_612372.1:p.Gln366Thrfs*5;NA,NA,NA;0.6;2,3;Heterozygous
24;27;16:67035150;CAGCCCAACGCGCCCCGACTGTCGAGGCCCGGGACCCTGACAGTGAACCCCACACGCCCAGCACGGACGA/-;NA;NA;NA;NA;NA;NA;29.1;NA;CES4A;splice_acceptor_variant;NM_173815.6:c.537-56_550del;NP_776176.5:p.?;Schizophrenia (1);0.666667;2,4;Heterozygous
17;21;12:96983286;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;35;NA;CFAP54;stop_gained;NM_001306084.1:c.3157C>T;NP_001293013.1:p.Gln1053Ter;NA;0.4;3,2;Heterozygous
24;27;1:43698296;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;26.8;NA;CFAP57;splice_donor_variant;NM_001195831.2:c.3225+1G>A;NA;NA;0.4;3,2;Heterozygous
28;6;4:2461695;GGGATCCTGGTGGGAAGCATCGGGGCCCAGCACAGCTCCCAGCTTGGGGCCTCCCCTACCACCCCACAGATCCCCGGCTACGGCCTGGAAGGAGAGATGTCCATAGTGGAGCTGCGAGAGCGGCTGGCCCTGCTCAAAGAGAATCAGCGGCGCAAGGAGGAAGAAAAGC/-;NA;NA;NA;NA;NA;NA;45;NA;CFAP99;splice_acceptor_variant;NM_001193282.2:c.1456-69_1555del;NP_001180211.2:p.?;NA;0.5;2,2;Heterozygous
2;10;1:196927185;G/T;NA;NA;0.00959577;301;2;1 of 6 Predicted as Damaging;35;NA;CFHR2;stop_gained;NM_005666.3:c.595G>T;NP_005657.1:p.Glu199Ter;"NA,NA,Autism spectrum disorder (1); C3 glomerulopathy with dense deposit disease (1); Haemolytic uraemic syndrome, atypical (1); Low C3 plasma levels & Factor B activation (1); Macular degeneration, age related, protection against (1)";0.5;4,4;Heterozygous
14;19;1:196952186;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;CFHR5;stop_gained;NM_030787.3:c.230G>A;NP_110414.1:p.Trp77Ter;"NA,NA,Haemolytic uraemic syndrome, atypical (9); IgA nephropathy (8); Haemolytic uraemic syndrome, susceptibility to (4); Glomerulonephritis C3 (3); Membranoproliferative glomerulonephritis, association with (3); Nephropathy (2); Factor H-related protein deficiency (1); Glomerulopathy, C3 (1); Macular degeneration, age related, protection against (1); Thrombotic microangiopathy (1)";0.5;2,2;Heterozygous
17;21;1:151506577;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;39;NA;CGN;stop_gained;NM_020770.2:c.2869C>T;NP_065821.1:p.Gln957Ter;NA,NA,NA;0.4;3,2;Heterozygous
23;26;2:27324476;G/-;NA;NA;NA;NA;NA;NA;19.9;NA;CGREF1;frameshift_variant;NM_006569.5:c.623delC;NP_006560.3:p.Pro208Leufs;NA;0.5;2,2;Heterozygous
24;27;22:24108192;CTTCAGGGCAGGGAGCTCAGACCTGGGAAGGGAGGGGCAGCACAGGCTGGTGGTCAGCCTGCAGGTGCAAGAGGAGGGTTGGCCTCTCCCCCTCCCCGCCTGAGTCGGGGTCCACTCACTCACCATGGTAGTACTTGCACTG/-;NA;NA;NA;NA;NA;NA;55;NA;CHCHD10;stop_lost;NM_213720.2:c.391_409+123del;NP_998885.1:p.Gln131Glyext*29;"Frontotemporal dementia (6); Frontotemporal dementia / amyotrophic lateral sclerosis (4); Amyotrophic lateral sclerosis (3); Frontotemporal lobar degeneration (2); Mitochondrial myopathy, autosomal dominant (2)";0.571429;3,4;Heterozygous
30;7;15:93552547;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;52;NA;CHD2;stop_gained;NM_001271.3:c.4586G>A;NP_001262.3:p.Trp1529Ter;"Epileptic encephalopathy (6); Autism spectrum disorder (5); Autism (4); Developmental delay, intellectual disability & epilepsy (4); Dravet syndrome-like myoclonic epileptic encephalopathy (3); Lennox-Gastaut syndrome (3); Epilepsy, photosensitive (2); Intellectual disability (2); Intellectual disability, epilepsy & truncal obesity (2); Epilepsy (1); Epilepsy, developmental delay, autism & facial dysmorphism (1); Epilepsy, generalised (1); Epilepsy, idiopathic photosensitive occipital (1); Epilepsy, juvenile myoclonic (1); Epilepsy, myoclonic-atonic (1); Epileptic encephalopathy, early onset (1); Eyelid myoclonia with absences (1); Intellectual disability, nonsyndromic (1); Photoparoxysmal response with febrile seizures (1); Scoliosis (1)";0.5;2,2;Heterozygous
30;7;3:87302553;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;29;NA;CHMP2B;splice_acceptor_variant;NM_014043.3:c.425-1G>A;NA;"Amyotrophic lateral sclerosis (8); Frontotemporal dementia (6); Alzheimer disease (3); Amyotrophic lateral sclerosis, PMA variant (2); Frontotemporal lobar degeneration (1); Progressive muscular atrophy (1)";0.5;2,2;Heterozygous
33;8;14:24679928;G/A;NA;NA;0.00137012;43;0;2 of 6 Predicted as Damaging;40;NA;CHMP4A;stop_gained;NM_014169.3:c.535C>T;NP_054888.2:p.Gln179Ter;NA;0.285714;5,2;Heterozygous
24;27;2:220404233;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;43;NA;CHPF;stop_gained;NM_024536.5:c.2200C>T;NP_078812.2:p.Gln734Ter;NA;0.5;2,2;Heterozygous
7;14;8:141521637;GCAGCGGCTCATCTCGCTGCCTCTATCCCGCATCCGGGTCATCATGAAGAGCTCCCCCGAGGTGTCCAGCATCAACCAGGAGGCGTTGGTGCTCACGGCCAAGGCCACGGTGAGGGGGCAGGGCGGGGG/-;NA;NA;NA;NA;NA;NA;22.3379;NA;CHRAC1;splice_donor_variant;NM_017444.5:c.39_147+20del;NP_059140.1:p.?;NA;0.4;3,2;Heterozygous
30;7;10:125780849;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;44;NA;CHST15;stop_gained;NM_015892.4:c.1270C>T;NP_056976.2:p.Gln424Ter;NA;0.4;3,2;Heterozygous
35;26;12:120306978;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;CIT;stop_gained;NM_001206999.1:c.124C>T;NP_001193928.1:p.Gln42Ter;"Microlissencephaly with multinucleated neurons (4); Primary microcephaly (4); Long QT syndrome (2)";0.392857;17,11;Heterozygous
23;26;9:130941402;G/A;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;35;NA;CIZ1;stop_gained;NM_012127.2:c.1084C>T;NP_036259.2:p.Gln362Ter;Cervical dystonia, primary (3);0.5;2,2;Heterozygous
8;15;3:45077119;CCTGGGCACCCCTCAGACTGGCTCGGAGAACGACGCCCTGTATGAGTACCTGCGCCAGAGCGTGGGCAACGAGGCCGAGATCTGGCTGGGCCTCAACGACATGGCGGCCGAGGGCA/-;NA;NA;NA;NA;NA;NA;44;NA;CLEC3B;frameshift_variant;NM_003278.2:c.318_433del;NP_003269.2:p.Thr107Glyfs*15;NA;0.5;3,3;Heterozygous
23;26;9:139889292;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;28.4;NA;CLIC3;splice_acceptor_variant;NM_004669.2:c.553-1G>A;NA;NA;0.4;3,2;Heterozygous
9;15;13:77566271;TGCGGCGGGGCGCGGGCGCGGCTCGGGGACGCGCTTCCTGGTGCTGGGCCCTGGCGCTGCTTTGGCTCGCGGTGGTTCCGGGCTGGTCCCGGGTCTCGGGCATCCCCTCCCGGCGCCACTGGCCGGTGCCCTACAAGTGAG/-;NA;NA;NA;NA;NA;NA;14.4776;NA;CLN5;splice_donor_variant;NM_006493.2:c.193_320+13del;NP_006484.1:p.?;"Neuronal ceroid lipofuscinosis, late infantile (29); Neuronal ceroid lipofuscinosis, Finnish variant (5); Neuronal ceroid lipofuscinosis, juvenile (4); Neuronal ceroid lipofuscinosis (3); Ataxia, adult-onset (1)";0.6;2,3;Heterozygous
30;7;11:6260613;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;32;NA;CNGA4;splice_acceptor_variant;NM_001037329.3:c.63-1G>A;NA;Amyotrophic lateral sclerosis (2);0.4;3,2;Heterozygous
8;15;2:97482743;GAGCGGGCGCTGGACGCTGGCGCTGGCGCCGCGAGCGCTCGGCCTCAGCCGCCTGGCCGTCCTGCTCACTCTGCCCGTCGCGCTGCCCGTGGGGCAGCTGCTGGAGCTGGCGGCGCGGCCCGGGCGGCTGCGG/-;NA;NA;NA;NA;NA;NA;36;NA;CNNM3;frameshift_variant;NM_017623.4:c.736_868del;NP_060093.3:p.Arg246Cysfs*130;NA,NA,NA,NA,Schizophrenia (1);0.6;2,3;Heterozygous
33;8;7:135106925;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;CNOT4;stop_gained;NM_001190850.1:c.352C>T;NP_001177779.1:p.Gln118Ter;Autism (2);0.5;2,2;Heterozygous
24;27;7:147914484;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;36;NA;CNTNAP2;stop_gained;NM_014141.5:c.3115C>T;NP_054860.1:p.Gln1039Ter;"Autism spectrum disorder (18); Intellectual disability & epilepsy (11); Intellectual disability (6); Epileptic encephalopathy (4); Childhood apraxia of speech (3); Epilepsy and schizophrenia (3); Mental retardation, Pitt-Hopkins-like (3); Charcot-Marie-Tooth disease, type II (2); Increased transcriptional activity (2); Autism (1); Autism spectrum disorder, modifier of (1); Autism spectrum disorder, reduced risk (1); Autism-epilepsy phenotype (1); Cortical dysplasia-focal epilepsy syndrome (1); Developmental and/or speech and/or behavioural problems (1); Developmental delay (1); Developmental delay & dysmorphic features (1); Dyslexia (1); Epilepsy with auditory features (1); Epilepsy, facial dysmorphism, intellectual disability & impaired language (1); Focal epilepsy, drug-resistant (1); Gilles de la Tourette syndrome (1); Language development, in autism, association with (1); Learning disability & speech problems (1); Mental retardation (1); Multiple congenital anomalies (1); Schizoaffective disorder (1); Seizures, neonatal (1); Speech delay (1); Stuttering (1),NA";0.5;2,2;Heterozygous
33;8;1:32157056;G/-;NA;NA;NA;NA;NA;NA;15.33;NA;COL16A1;frameshift_variant;NM_001856.3:c.1360delC;NP_001847.3:p.Leu454Serfs*7;NA;0.5;2,2;Heterozygous
30;7;20:61943870;CTCCTCTACGCTGACTGGCCGGGTGACCACCAGTGAGTGGGGAGAGGCTGGGGCTGGGGGTCCAGCAGGGTTTCTGTGTCCTTCTGCCCTGCTAGACAGTTCACATCAAGTGTTTTGGGAGCCTGCCCTGGGTCAGTGCTGAGCCAGGTGGGGATGGGCACCCGGACGGGTGTGATGGATGGGGGTATAGGGTGCTCCTGGGTGTGGCTGCCC/-;NA;NA;NA;NA;NA;NA;5.66109;NA;COL20A1;splice_donor_variant;NM_020882.2:c.1902_1933+181del;NP_065933.2:p.?;NA;0.6;2,3;Heterozygous
14;19;7:7561535;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;32;NA;COL28A1;splice_donor_variant;NM_001037763.2:c.759+1G>A;NA;NA;0.333333;4,2;Heterozygous
8;15;2:189858809;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;Pathogenic (1);COL3A1;splice_donor_variant;NM_000090.3:c.1194+1G>A;NA;"Ehlers-Danlos syndrome IV (436); Ehlers-Danlos syndrome, vascular-type (125); Ehlers-Danlos syndrome IV, vascular-type (15); Ehlers-Danlos syndrome (14); Aortic aneurysm (10); Thoracic aortic aneurysms and dissections (3); Abdominal aortic aneurysm (2); Ehlers-Danlos syndrome III (2); Ehlers-Danlos-like syndrome (2); Acrogeria, Gottron (1); Aortopathy (1); Ehlers-Danlos IV with features of EDS I/II & muscle hypertrophy (1); Ehlers-Danlos syndrome, vascular-type with intestinal involvement (1); Intracranial aneurysm, association with (1); Marfan syndrome with aortopathy (1); Thoracic aortic disorder, nonsyndromic (1); Thoracic aortic disorder, syndromic (1)";0.5;2,2;Heterozygous
31;7;13:111158678;AGGTGCACCAGGCCGTCCACTCTCTCTCTTTCTCGGGCTGCAGGTGCACCAGGCCGTCCACTCTCTCTCTTTCTCGGGCTGC/-;NA;NA;NA;NA;NA;NA;13.3;NA;COL4A2;splice_acceptor_variant;NM_001846.3:c.4403-65_4419del;NP_001837.2:p.?;"Haemorrhagic stroke (4); Porencephaly (3); Intracerebral haemorrhage & leukoencephalopathy (1); Macular degeneration, age related, protection against (1); Porencephaly & small-vessel disease (1); Porencephaly with cataracts (1); Porencephaly, type II (1),NA";0.5;2,2;Heterozygous
17;21;9:137716667;GGACCTGCAGCTCTGCCACCCCGACTTCCCAGATGGTGAGGGCCTGGGGGGGCAGGGGTGGCCCCCCAAAGCGGGCAT/-;NA;NA;NA;NA;NA;NA;12.746;NA;COL5A1;splice_donor_variant;NM_000093.4:c.4930_4954+53del;NP_000084.3:p.?;"Ehlers-Danlos syndrome (111); Ehlers-Danlos syndrome I (10); Ehlers-Danlos syndrome II (5); Chronic achilles tendinopathy, association with (3); Cervical artery dissection, increased risk (1); Decreased mRNA stability (1); Ehlers-Danlos syndrome with lethal arterial events (1); Ehlers-Danlos syndrome with superior mesenteric artery aneurism (1); Ehlers-Danlos syndrome with vascular events (1); Thoracic aortic aneurysms and dissections (1),NA";0.375;5,3;Heterozygous
11;17;6:70926727;G/-;NA;NA;NA;NA;NA;NA;23.2;NA;COL9A1;frameshift_variant;NM_001851.4:c.2639delC;NP_001842.3:p.Pro880Glnfs;"Multiple epiphyseal dysplasia (2); Stickler syndrome, autosomal recessive (2); Deafness (1)";0.5;2,2;Heterozygous
30;7;1:183938487;TGTCCGAGGCCTCCTTCCTGAGGTCAATTAGGAAGGTGGAGTGGACCATGGGGACGGGGAAGCAGCC/-;NA;NA;NA;NA;NA;NA;43;NA;COLGALT2;frameshift_variant;NM_015101.3:c.682_748del;NP_055916.1:p.Gly228Serfs*2;NA,NA,NA;0.4;3,2;Heterozygous
24;27;3:15507945;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;COLQ;splice_acceptor_variant;NM_005677.3:c.718-1G>A;NA;"Endplate acetylcholinesterase deficiency (57); Congenital myasthenic syndrome (6); Axial muscle weakness, ptosis & respiratory failure (1); Congenital myasthenic syndrome with vocal cord paralysis (1); Reduced enzyme activity (1)";0.5;2,2;Heterozygous
16;21;4:47462160;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;29.6;NA;COMMD8;splice_donor_variant;NM_017845.4:c.222+1G>A;NA;NA;0.4;3,2;Heterozygous
24;27;14:74428555;GTTGCTCAGGACGTGGGGCTTGCAGGCCACAAATGCAGTGTCTCCACTCAAAGTAAGAG/-;NA;NA;NA;NA;NA;NA;50;NA;COQ6,ENTPD5;splice_donor_variant;NM_182476.2:c.1335_1377+16del,NM_001330189.1:c.1201-2357_1201-2299del;NP_872282.1:p.?,;"Nephrotic syndrome with sensorineural deafness (5); Focal segmental glomerulosclerosis (2); Diffuse mesangial sclerosis (1); Nephrotic syndrome (1); Nephrotic syndrome, steroid resistant (1); Schwannomatosis (1)";0.4;3,2;Heterozygous
33;8;16:4414826;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;38;NA;CORO7,CORO7-PAM16;stop_gained;NM_024535.4:c.994C>T,NM_001201479.1:c.994C>T;NP_078811.3:p.Gln332Ter,NP_001188408.1:p.Gln332Ter;NA,NA,NA,NA;0.4;3,2;Heterozygous
17;21;4:15005822;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;36;NA;CPEB2;stop_gained;NM_001177382.1:c.1525C>T;NP_001170853.1:p.Gln509Ter;NA;0.333333;4,2;Heterozygous
30;7;10:93999406;GGCGGCTGCGGCAGCAGCGGCTGCAACCGCCGAAGACGAGGACGGCTTGCTGGTCATGATGGGCTGGTGGCCGTACGCCGCGGCGGCGCTCCTCTGCGCGTAGGGCGCCTGGCTGGGGCTGGCGGGTGAGCGGCGCTGCTGCGGGGGCTGCGCCTGT/-;NA;NA;NA;NA;NA;NA;38;NA;CPEB3;frameshift_variant;NM_014912.4:c.546_702del;NP_055727.3:p.Gln183Profs*14;NA;0.4;3,2;Heterozygous
2;10;9:126133040;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;35;NA;CRB2;stop_gained;NM_173689.6:c.1708C>T;NP_775960.4:p.Gln570Ter;"Nephrotic syndrome, steroid resistant (7); Cerebral ventriculomegaly & nephrosis (5); Congenital nephrosis, Finnish type-like, with cerebral ventriculomegaly & raised alpha-fetoprotein (4); Focal segmental glomerulosclerosis (3); Chronic kidney disease (1)";0.333333;4,2;Heterozygous
24;27;22:21304131;T/C;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;14.99;NA;CRKL;stop_lost;NM_005207.3:c.910T>C;NP_005198.1:p.Ter304Argext*19;"Congenital heart defect (2); Tetralogy of Fallot (2); Ventricular septal defect (2); Atrioventricular septum defects (1); Cardiac malformations (1); Subaortic stenosis (1)";0.4;3,2;Heterozygous
9;15;8:2976088;G/-;NA;NA;NA;NA;NA;NA;26.4;NA;CSMD1;frameshift_variant;NM_033225.5:c.6263delC;NP_150094.5:p.Pro2088Glnfs*11;"Autism spectrum disorder (3); Attention deficit hyperactivity disorder (1); Autism (1); Hyperinsulinism (1); Intellectual disability & epilepsy (1); Schizophrenia, association with (1)";0.5;2,2;Heterozygous
24;27;1:34258128;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;33;NA;CSMD2;splice_acceptor_variant;NM_001281956.1:c.1447-1G>A;NA;Schizophrenia (1);0.4;3,2;Heterozygous
33;8;20:23614599;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;CST3;stop_gained;NM_000099.3:c.395G>A;NP_000090.1:p.Trp132Ter;"Altered promoter activity (2); Alzheimer disease, association with (2); Amyloidangiopathy (1)";0.285714;5,2;Heterozygous
9;15;10:126683037;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;CTBP2;splice_donor_variant;NM_022802.2:c.2400+1G>A;NA;Congenital heart disease (1);0.5;2,2;Heterozygous
24;27;20:36488439;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;CTNNBL1;splice_donor_variant;NM_030877.4:c.1530+1G>A;NA;NA;0.285714;5,2;Heterozygous
16;21;10:35360204;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;39;NA;CUL2;stop_gained;NM_001198778.1:c.99G>A;NP_001185707.1:p.Trp33Ter;NA;0.5;2,2;Heterozygous
24;27;13:113909037;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;45;NA;CUL4A;stop_gained;NM_001008895.2:c.1783C>T;NP_001008895.1:p.Gln595Ter;NA;0.4;3,2;Heterozygous
32;8;6:33385007;CCCCCAACTCCTATGACTCACATGGATGTAATCTGAGGGATGAGGTTGACGCAGGCTGCTAGGCGCTTCTCCACCACGGCCCTGGAGTGAAGAGACAGTCCCATTCAGAGTACCCCATAACCCCAGTTTTTGTACTGGCAGCCCAGAGACAGGCTTCCAGAGCTGGAGAAAGGAGAAAGCAGCACTCTTCTGCCCCA/-;NA;NA;NA;NA;NA;NA;41;NA;CUTA;frameshift_variant;NM_001014433.2:c.315-116_374+21del;NP_001014433.1:p.Ala34Argfs*17;NA;0.4;3,2;Heterozygous
17;21;11:107207426;G/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;44;NA;CWF19L2;stop_gained;NM_152434.2:c.2216C>A;NP_689647.2:p.Ser739Ter;Breast cancer (1);0.285714;5,2;Heterozygous
33;8;12:58157486;-/G;NA;NA;NA;NA;NA;NA;28.6;NA;CYP27B1;frameshift_variant;NM_000785.3:c.1321dupC;NP_000776.1:p.His441Profs*24;"Pseudovitamin D-deficiency rickets (53); Rickets, vitamin D dependent, type I (11); Rickets, vitamin D dependent, type IA (5); Reduced enzyme activity (3); Fracture, increased risk, association with (1); Multiple sclerosis (1)";0.384615;8,5;Heterozygous
14;19;7:91747836;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;43;NA;CYP51A1;stop_gained;NM_000786.3:c.1180C>T;NP_000777.1:p.Gln394Ter;"Preterm birth (3); Cataract, syndromic (2); Cataract, paediatric (1); Paediatric cataract (1)";0.5;2,2;Heterozygous
24;27;5:39377224;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;39;NA;DAB2;stop_gained;NM_001343.3:c.1665G>A;NP_001334.2:p.Trp555Ter;"Autism (1); Autism spectrum disorder with intellectual disability (1)";0.4;3,2;Heterozygous
35;26;5:10761153;C/A;NA;NA;0.00206002;60;0;1 of 6 Predicted as Damaging;36;NA;DAP;stop_gained;NM_001291963.1:c.28G>T;NP_001278892.1:p.Glu10Ter;NA;0.272727;24,9;Heterozygous
34;2;10:115608854;-/T;NA;NA;NA;NA;NA;NA;10.06;NA;DCLRE1A;frameshift_variant;NM_014881.4:c.2010dupA;NP_055696.3:p.Val671Serfs*22;"Colorectal cancer (1); Colorectal polyposis (1)";0.548387;14,17;Heterozygous
11;17;1:155004226;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;DCST2;stop_gained;NM_144622.2:c.563G>A;NP_653223.2:p.Trp188Ter;NA,NA,Increased expression levels (1);0.5;2,2;Heterozygous
33;8;8:38107322;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;25.5;NA;DDHD2;splice_donor_variant;NM_015214.2:c.1344+1G>A;NA;Spastic paraplegia (11);0.4;3,2;Heterozygous
28;6;2:15731970;GGGGCCGGAAGCGCGCGCCGCCACTGCCACGCCGTGTCAGTCGGGAGGGAGGGAGCGAGCAGGCGAAGCCGCGGAGGACGGGGTGAAGATGGCGGCCTTCTCCGGTGCGTTTGTGGAAACTCTGGGGGTGGTGGGGCGGCTTGTTGCACGCCTCAGCCCT/-;NA;NA;NA;NA;NA;NA;44;NA;DDX1;frameshift_variant;NM_004939.2:c.-88_16+56del;NP_004930.1:p.Met1Argfs*741;NA;0.428571;4,3;Heterozygous
16;21;7:44612381;AGCAGCTGGGATCTCACCCTGGATTTGCTCTCTTTTTTGCCACACACAAACCCAACCCCACAACACTGTGTAGCTTCATTCAGGTACAGCTTTGCTGCTTTTACCCACCTCTGAGAGACTGAGTCTTC/-;NA;NA;NA;NA;NA;NA;42;NA;DDX56;splice_donor_variant;NM_019082.3:c.364_383+108del;NP_061955.1:p.?;NA;0.5;2,2;Heterozygous
30;7;1:115151479;A/-;NA;NA;NA;NA;NA;NA;38;NA;DENND2C;frameshift_variant;NM_001256404.1:c.1385delT;NP_001243333.1:p.Leu462Terfs;Amyotrophic lateral sclerosis (1);0.5;2,2;Heterozygous
8;15;3:57658141;GTTTG/-;NA;NA;NA;NA;NA;NA;38;NA;DENND6A;frameshift_variant;NM_152678.2:c.258_262delCAAAC;NP_689891.1:p.Lys87Tyrfs*2;NA;0.6;2,3;Heterozygous
30;7;8:145550151;GCCGGGGCTGGCGCGTCCCCCGCGGCTCCCACGTCGGGGCCCGCAGCGGCGTCCCGCACCTCCTCTTCCGCCGCCGCAGGCCCGCCGCCGCCGTGGCTCGAGGGCCGCGACCCTGTCCTCCGGC/-;NA;NA;NA;NA;NA;NA;36;NA;DGAT1;frameshift_variant;NM_012079.5:c.26_149del;NP_036211.2:p.Arg9Profs*17;"Congenital diarrhoeal disorder (2); Lower body mass index, association with (1)";0.5;3,3;Heterozygous
23;26;7:14733787;A/C;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;DGKB;stop_gained;NM_004080.2:c.624T>G;NP_004071.1:p.Tyr208Ter;Short stature (1);0.5;2,2;Heterozygous
30;7;17:41577360;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;DHX8;stop_gained;NM_004941.2:c.1435C>T;NP_004932.1:p.Gln479Ter;NA;0.4;3,2;Heterozygous
8;15;1:182852748;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;41;NA;DHX9;stop_gained;NM_001357.4:c.3238C>T;NP_001348.2:p.Gln1080Ter;NA,NA,Autism spectrum disorder (1);0.5;2,2;Heterozygous
30;7;5:140998364;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;31;NA;DIAPH1;splice_donor_variant;NM_005219.4:c.117+1G>A;NA;"Deafness (3); Hearing loss (2); Hearing loss, non-syndromic (2); Deafness, congenital, severe (1); Deafness, non-syndromic, autosomal dominant 1 (1); Macrothrombocytopaenia & hearing loss (1); Microcephaly (1); Microcephaly, blindness & early-onset seizures (1); Microcephaly, seizures, developmental delay, and facial dysmorphism (1); Sensorineural hearing loss (1)";0.333333;4,2;Heterozygous
33;8;20:61511173;C/-;NA;NA;NA;NA;NA;NA;0.131;NA;DIDO1;frameshift_variant;NM_033081.2:c.6135delG;NP_149072.2:p.Pro2046Argfs;NA;0.333333;4,2;Heterozygous
17;21;5:78347315;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;DMGDH;splice_acceptor_variant;NM_013391.3:c.541-1G>A;NA;Dimethylglycine dehydrogenase deficiency (1);0.285714;5,2;Heterozygous
8;15;19:46285511;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;21.8;NA;DMPK;stop_gained;NM_001288764.1:c.119C>T;NP_001275693.1:p.Pro40Leu;"Myotonic dystrophy (4); Hypotonia, neonatal (1); Myotonic dystrophy, increased risk, association (1); Myotonic dystrophy, type 1 (1)";0.5;2,2;Heterozygous
33;8;17:7664057;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;DNAH2;splice_acceptor_variant;NM_020877.3:c.2786-1G>A;NA;Amyotrophic lateral sclerosis (2);0.4;3,2;Heterozygous
2;10;2:196602786;A/T;NA;NA;0.00178321;56;0;2 of 6 Predicted as Damaging;37;NA;DNAH7;stop_gained;NM_018897.2:c.11934T>A;NP_061720.2:p.Tyr3978Ter;"Autism spectrum disorder (2); Asplenia syndrome (1)";0.363636;7,4;Heterozygous
17;21;6:38891939;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;33;NA;DNAH8;splice_donor_variant;NM_001206927.1:c.10962+1G>A;NA;"Chronic obstructive pulmonary disease (2); Primary ciliary dyskinesia (1),NA";0.333333;4,2;Heterozygous
23;26;16:84203788;CCTGTGGAGGTTAAAGGAGAGGATGGAGATCAAGAGCCAGAGGGGACCCTCCCAGCTGAGACCCTGCTACTGTCACCGCCTGTGAAGGTTAAAGGAGAGGATGGAGATCGAGAGCCAGAGGGGACCCTCCCAGCTGAGGCCCCACCACCACCGCC/-;NA;NA;NA;NA;NA;NA;36;NA;DNAAF1;frameshift_variant;NM_178452.5:c.1358_1512del;NP_848547.4:p.Val453Glyfs*15;"Primary ciliary dyskinesia (14); Neural tube defects (8); Seminoma (3); Obesity, early-onset, severe (2); Heterotaxy (1); Testicular cancer (1)";0.285714;5,2;Heterozygous
24;27;19:55676766;CAGGGCTAGGCTGAAGATCAGCATGTGTCGGGCCACAGCTTCCAGATTATTCTCCAGCACAAAGAACTAGAAGGATGGA/-;NA;NA;NA;NA;NA;NA;39;NA;DNAAF3;splice_acceptor_variant;NM_001256714.1:c.433-13_498del;NP_001243643.1:p.?;Primary ciliary dyskinesia (3);0.571429;3,4;Heterozygous
30;7;10:129202601;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;51;NA;DOCK1;stop_gained;NM_001290223.1:c.4030C>T;NP_001277152.1:p.Gln1344Ter;Autism spectrum disorder (1);0.4;3,2;Heterozygous
2;10;13:99447003;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;31;NA;DOCK9;splice_acceptor_variant;NM_015296.2:c.*1-1G>A;NA;Keratoconus (1);0.285714;5,2;Heterozygous
17;21;21:37609580;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;47;NA;DOPEY2;stop_gained;NM_005128.3:c.2643G>A;NP_005119.2:p.Trp881Ter;NA;0.285714;5,2;Heterozygous
32;8;11:66249822;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;DPP3;stop_gained;NM_005700.4:c.151C>T;NP_005691.2:p.Gln51Ter;Autism (1);0.5;2,2;Heterozygous
24;27;11:117299156;-/C;NA;NA;NA;NA;NA;NA;22.5;NA;DSCAML1;frameshift_variant;NM_020693.3:c.6230_6231insG;NP_065744.2:p.His2077Glnfs;Motor neuron disease, scoliosis, chest deformity (1);0.5;2,2;Heterozygous
19;24;6:31937477;CCTCTACACCCAGTGAATGCCCCATGTAAAAACATGATGATAAAACAGCAAAGCACTGTTGTGTGCTTGAGTTGCTGGACAGGGATGACTCAGCTAAGAAGACAGCGAGAGAACCTCTTAGAAATATGCTTTTATTATCTGCACACAGAGATATGACTGCCTC/-;NA;NA;NA;NA;NA;NA;49;NA;DXO,SKIV2L;stop_lost;NM_005510.3:c.*15_*66del,NM_006929.4:c.3732_*40del;,;"Trichohepatoenteric syndrome (13); Immunodeficiency, primary (2); Inflammatory bowel disease (1); Macular degeneration, age related, reduced risk (1); Ulcerative colitis (1),Autism (1)";0.75;1,3;Heterozygous
24;27;11:103157116;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;33;NA;DYNC2H1;splice_donor_variant;NM_001080463.1:c.11043+1G>A;NA;"Asphyxiating thoracic dystrophy (58); Short rib-polydactyly syndrome (13); Short rib-polydactyly syndrome, Majewski type (10); Short rib-polydactyly syndrome, type 3 (10); Jeune asphyxiating thoracic dystrophy (3); Pregnancy loss, recurrent, early (2); Asphyxiating thoracic dystrophy 3 (1); Multiple congenital anomalies (1); Short-rib thoracic dysplasia (1)";0.285714;5,2;Heterozygous
16;21;6:20402585;GCCCCGGCTTCGCCGCCGCCGCCGCCGCTGCCGCC/-;NA;NA;NA;NA;NA;NA;25.8;NA;E2F3;frameshift_variant;NM_001949.4:c.129_163del;NP_001940.1:p.Phe44Argfs*111;NA;0.333333;4,2;Heterozygous
17;21;16:23563563;G/A;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;35;NA;EARS2;stop_gained;NM_001083614.1:c.202C>T;NP_001077083.1:p.Gln68Ter;"NA,NA,Leukoencephalopathy with thalamus & brainstem involvement (17); Leukoencephalopathy with thalamus & brainstem involvement & high lactate (3); Neurodegenerative disorder (2); Encephalopathy, hepatic failure, Leigh syndrome, & complex I deficiency (1); Failure to thrive, lactic acidosis, mitochondrial myopathy & hepatopathy (1); Hypotony, motor development retardation, hyperglycaemia, & complex IV deficiency (1); Muscle, central nervous system, and liver defects with failure to thrive, leukoencephalopathy, and lactic acidosis (1)";0.285714;5,2;Heterozygous
25;3;6:127636042;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;33;NA;ECHDC1;splice_acceptor_variant;NM_001139510.1:c.435-1G>A;NA;NA;0.4;3,2;Heterozygous
34;2;6:139223635;A/T;NA;NA;0.000318329;10;0;2 of 6 Predicted as Damaging;33;NA;ECT2L;splice_acceptor_variant;NM_001077706.2:c.2588-2A>T;NA;NA;0.540541;17,20;Heterozygous
9;15;19:3983019;GGGGACACGGGGGACAGGGCGGCGCTGTCATCCTCAAGCAAGGATGGCCCCCGGTTCCAGGCCGTGCCTCAGGGGGACCCACTGCTTACCTGACACGCAGTCCACCACCACCAATGCGCCATCGGTGACTCGGAGGGCAGCAGTCACCTCCGAGGAGAAGTCGACATGCCC/-;NA;NA;NA;NA;NA;NA;12.5651;NA;EEF2;splice_donor_variant;NM_001961.3:c.319_400+89del;NP_001952.1:p.?;Spinocerebellar ataxia 26 (1);0.375;5,3;Heterozygous
11;17;1:15736525;GGCGGCGGCGAGACCCCGGAGCAGCCCGGGCTGAACGGGGCAGC/-;NA;NA;NA;NA;NA;NA;35;NA;EFHD2;frameshift_variant;NM_024329.5:c.68_111del;NP_077305.2:p.Glu23Glyfs*68;NA;0.285714;5,2;Heterozygous
8;15;2:63220698;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;42;NA;EHBP1;stop_gained;NM_015252.3:c.2980C>T;NP_056067.2:p.Gln994Ter;NA;0.333333;4,2;Heterozygous
2;10;3:184922329;G/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;38;Uncertain significance (1);EHHADH;stop_gained;NM_001966.3:c.785C>A;NP_001957.2:p.Ser262Ter;Fanconi syndrome, renal (1);0.384615;8,5;Heterozygous
17;21;9:140672452;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;40;NA;EHMT1;stop_gained;NM_024757.4:c.2137C>T;NP_079033.4:p.Gln713Ter;"Kleefstra syndrome (36); 9q subtelomeric deletion syndrome (15); Autism spectrum disorder (4); Intellectual disability and speech delay (3); Mental retardation (3); Atrioventricular septum defect (1); Autism (1); Breast cancer, reduced risk, association with (1); Development delay with seizures (1); Ganglioma (1); Hypoplastic left heart syndrome (1); Intellectual disability, dysmorphic features, aggressive behaviour, autistic features, depression & epilepsy (1)";0.285714;5,2;Heterozygous
32;8;22:38247425;TACAGGCCAGTCGTGTCTCCAGTGATGTCATTGACCAGAAG/-;NA;NA;NA;NA;NA;NA;38;NA;EIF3L;frameshift_variant;NM_016091.3:c.221_261del;NP_057175.1:p.Leu74Argfs*3;NA;0.5;2,2;Heterozygous
24;27;12:53415611;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;EIF4B;stop_gained;NM_001300821.2:c.499C>T;NP_001287750.1:p.Arg167Ter;NA;0.4;3,2;Heterozygous
24;27;1:201980426;AGGTGGGTCTCAGCGGGGTGGGATGGGGCACGGAGTGGGAGACAGATCCATCTAAGGGCCTGTTAGACAAATGGGGGAATAGGCAGGG/-;NA;NA;NA;NA;NA;NA;42;NA;ELF3;splice_donor_variant;NM_004433.4:c.163+2_163+89del;NA;NA,NA,NA;0.4;3,2;Heterozygous
21;25;16:67237132;GCGGGCAGGGGCGGGGGCCAGATACCTGCTCTCCCCAGACCGCCCTGGGCCCCGGGGCTGCCAGGGCTGCAGTGCTCAGCCCAGCCTTCTTCCTGCAGTCCCTGTGGCCGACATGAGGGCACTCCTGACAGGCAAGGACTGCCCCCATGTCCGGGAGAAGGGCTCCGGGAAGCAGAACAAGGTGAGTACA/-;NA;NA;NA;NA;NA;NA;46;NA;ELMO3;frameshift_variant;NM_024712.3:c.1940-98_2022+9del;NP_078988.2:p.Pro648Leufs*63;NA;0.4;3,2;Heterozygous
24;27;1:43830023;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;38;NA;ELOVL1;stop_gained;NM_022821.3:c.590G>A;NP_073732.1:p.Trp197Ter;NA;0.4;3,2;Heterozygous
17;21;19:50982324;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;24.8;NA;EMC10;splice_donor_variant;NM_206538.3:c.297+1G>A;NA;NA;0.333333;4,2;Heterozygous
2;10;18:2906852;CCCAGCGGCCCCGCAACCGCAGAGGACCCTGGGCGACGGCCCGTCCTGC/-;NA;NA;NA;NA;NA;NA;35;NA;EMILIN2;frameshift_variant;NM_032048.2:c.2443_2491del;NP_114437.2:p.Ala815Profs*65;Porokeratosis of Mibelli (1);0.333333;4,2;Heterozygous
34;2;1:225692735;TTTTTCCTTG/-;NA;NA;NA;NA;NA;NA;41;NA;ENAH;frameshift_variant;NM_001008493.2:c.1550_1559delCAAGGAAAAA;NP_001008493.1:p.Pro517Leufs*39;NA;0.346154;17,9;Heterozygous
30;7;19:15342844;CGACGGCGCCCGCAGCAGCCGCGCCGGGGCCGGCACAGCACGTGCGTGAGCGCTATGCAGCCGTAGACCGCCGCGGCCACCAGCGCCACCGAGAACACCAGGCTCCACATGAAGGCGCGCAGCAGCTTCAGCGACAGGCG/-;NA;NA;NA;NA;NA;NA;35;NA;EPHX3;frameshift_variant;NM_024794.2:c.40_179del;NP_079070.1:p.Arg14Glufs*14;NA;0.4;3,2;Heterozygous
9;15;16:20810637;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;38;NA;ERI2;stop_gained;NM_001142725.1:c.680G>A;NP_001136197.1:p.Trp227Ter;NA;0.333333;4,2;Heterozygous
35;26;2:171627337;-/CCGC;NA;NA;0.000869631;23;0;NA;8.313;NA;ERICH2;frameshift_variant;NM_001290030.1:c.152_155dupGCCC;NP_001276959.1:p.Ala53Profs*142;NA;0.55;9,11;Heterozygous
16;21;3:185774961;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;40;NA;ETV5;stop_gained;NM_004454.2:c.1112G>A;NP_004445.1:p.Trp371Ter;Male infertility, association with (1);0.333333;4,2;Heterozygous
32;8;14:57699452;G/-;NA;NA;NA;NA;NA;NA;38;NA;EXOC5;frameshift_variant;NM_006544.3:c.871delC;NP_006535.1:p.Gln291Serfs*2;NA;0.5;2,2;Heterozygous
9;15;17:40872290;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;33;NA;EZH1;splice_donor_variant;NM_001321079.1:c.682+1G>A;NA;NA;0.4;3,2;Heterozygous
32;8;11:61615749;CCATCGAGGTACGACTAAGAGGATGGTGTTGACCTAGGAAGTGTTTGTCCTGGGCGAATGGCAGACCATCGAGGTACAACTAAGGAGATGGTGTTGACCTAGGAAGTGTTTGGCCTGGGCGAATGGCAG/-;NA;NA;NA;NA;NA;NA;5.67306;NA;FADS2;splice_donor_variant;NM_004265.3:c.737_744+121del;NP_004256.1:p.=;"Decreased promoter activity (1); Increased expression (1); Schizophrenia (1)";0.5;3,3;Heterozygous
2;10;12:111800729;GGGGCTGGGGCAGAAGGCAGGGATGGGACTGGGGCCAGGGCAGAGGGCAGGGACGGGGGCAAGGGCAGGGACTGGGGCTGGGGCT/-;NA;NA;NA;NA;NA;NA;29.8;NA;FAM109A;frameshift_variant;NM_001177996.1:c.458_542del;NP_001171467.1:p.Gln153Argfs;NA;0.285714;5,2;Heterozygous
8;15;9:96291707;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;38;NA;FAM120A;stop_gained;NM_014612.4:c.1579C>T;NP_055427.2:p.Gln527Ter;"Autism spectrum disorder (1); Glaucoma, primary congenital (1)";0.4;3,2;Heterozygous
8;15;9:96214691;CGGGCCGGGGACCGGGGCCGCGCCGCACCCCTATCCCCCTTCCCAGGGCGCAGAATGTCGCCCGGCCGTGGCGGCGCTGGGGGCAGCGAGTTCCCCCAGCCCTTGCCCGGGATAGCCTGGC/-;NA;NA;NA;NA;NA;NA;34;NA;FAM120A,FAM120AOS;frameshift_variant;NM_014612.4:c.474+29_474+149del,NM_198841.2:c.181_301del;,NP_942138.2:p.Ala61Profs*8;"Coarse facial features, scoliosis, pectus excavatum, skin laxity, hypotonia, GERD, hyperactive airways, undescended testes (1),Autism spectrum disorder (1); Glaucoma, primary congenital (1)";0.5;3,3;Heterozygous
11;17;4:89679789;ACTTCTGCATGCATAGCTCTTTCACCCACACTCTCACATAGTTACATGCCTCTCATTTGTGCTTATTTATATATGCTTTAATGATAGCAAATCATCCAAGTATCAGACAACCCTACCTTCCCAGTTCTTTTCATCACACAATGCAGTC/-;NA;NA;NA;NA;NA;NA;44;NA;FAM13A;splice_donor_variant;NM_014883.3:c.1695_1726+116del;NP_055698.2:p.?;NA;0.5;2,2;Heterozygous
2;10;7:30821716;A/T;NA;NA;0.000159205;5;0;2 of 6 Predicted as Damaging;35;NA;FAM188B;stop_gained;NM_032222.2:c.307A>T;NP_115598.2:p.Lys103Ter;NA,NA;0.538462;6,7;Heterozygous
17;21;17:66551802;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;41;NA;FAM20A;stop_gained;NM_017565.3:c.487C>T;NP_060035.2:p.Gln163Ter;"Enamel-renal syndrome (21); Amelogenesis imperfecta & gingival hyperplasia syndrome (8); Amelogenesis imperfecta (4); Enamel-renal-gingival syndrome (3); Amelogenesis imperfecta, hypomineralized and hypoplastic (1); Amelogenesis imperfecta, syndromic with Enamel renal syndrome (1); Enamel-renal-gingival syndrome & hypodontia (1); Gingival hyperplasia and dental anomalies (1)";0.4;3,2;Heterozygous
19;24;1:2519907;AGGGTGTACAGGCCGGGGGGTGGTGGGAGCTCCCAGGAGCCTTTCTTCTAGGATTGACTCAGGCTGTACCCACTCCTGACAGGCCAAGGCTGTTGGCATCCAGGGGAACTTGTCTGGGGACCTGCTGCAGAGCGGAGGGCTGCTGGTGGTCAGCAAAGGTGGGTCG/-;NA;NA;NA;NA;NA;NA;38;NA;FAM213B;frameshift_variant;NM_001195736.1:c.529-78_604+12del;NP_001182665.1:p.Ala177Valfs*63;NA;0.714286;2,5;Heterozygous
35;26;5:94772572;-/C;NA;NA;0.0039162;123;1;NA;33;NA;FAM81B;frameshift_variant;NM_152548.2:c.854_855insC;NP_689761.2:p.Gln285Hisfs*21;Autism spectrum disorder (1);0.423077;15,11;Heterozygous
2;10;6:17608511;C/T;NA;NA;0.00535427;133;0;2 of 6 Predicted as Damaging;38;NA;FAM8A1;stop_gained;NM_016255.2:c.1183C>T;NP_057339.1:p.Arg395Ter;Autism (1);0.3;14,6;Heterozygous
17;21;16:85141451;C/T;NA;NA;6.37E-05;2;0;2 of 6 Predicted as Damaging;24.2;NA;FAM92B;splice_donor_variant;NM_198491.2:c.426+1G>A;NA;NA;0.285714;5,2;Heterozygous
14;19;3:10145881;C/T;NA;NA;NA;NA;NA;NA;12.79;NA;FANCD2OS;splice_donor_variant;NM_173472.1:c.*43+1G>A;NA;NA;0.5;2,2;Heterozygous
28;6;14:45618046;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;FANCM;stop_gained;NM_020937.3:c.766C>T;NP_065988.1:p.Gln256Ter;"Breast cancer (6); Fanconi anaemia (6); Tetralogy of Fallot (2); Breast cancer, non-BRCA1/BRCA2 related (1)";0.4;3,2;Heterozygous
35;26;10:127693544;TG/-;NA;NA;NA;NA;NA;NA;35;NA;FANK1;frameshift_variant;NM_145235.3:c.632_633delGT;NP_660278.3:p.Cys211Tyrfs*16;NA;0.482759;15,14;Heterozygous
2;10;13:99040665;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;42;NA;FARP1;stop_gained;NM_001286839.1:c.788G>A;NP_001273768.1:p.Trp263Ter;NA;0.285714;5,2;Heterozygous
33;8;17:80048928;GCCACTGTGTGCCCATCCCTGTCCCAGAGAGCACGTCACGAGGCTCAGCCCCATCCCGT/-;NA;NA;NA;NA;NA;NA;44;NA;FASN;splice_acceptor_variant;NM_004104.4:c.1493-41_1510del;NP_004095.4:p.=;"Epileptic encephalopathy (2); Intellectual disability (1); Lennox-Gastaut syndrome (1); Lung cancer, susceptibility to, association with (1); Reduced substrate oxidation rate, association with (1)";0.285714;5,2;Heterozygous
34;2;2:170387886;G/C;NA;NA;0.00777318;244;1;2 of 6 Predicted as Damaging;39;NA;FASTKD1;stop_gained;NM_024622.5:c.2303C>G;NP_078898.3:p.Ser768Ter;NA;0.37931;18,11;Heterozygous
28;6;5:7862966;T/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;44;NA;FASTKD3;stop_gained;NM_024091.3:c.1669A>T;NP_076996.2:p.Lys557Ter;NA;0.8;1,4;Heterozygous
7;14;5:150945465;GGGCTAGGGGCCTCCCACCATCACTGGCCCACAGGCTCAGATTGTACCCAGCTCGCCTCTCAAAGTCCAGCTCTCTCTCCAGAATGAGCGCCCCTGTCATCAGGTCCACCCGGAAGGTCCCATGGGCGCCATCCATCAGAACATATCGCACTTCACCTGCG/-;NA;NA;NA;NA;NA;NA;47;NA;FAT2;frameshift_variant;NM_001447.2:c.2868_3028del;NP_001438.1:p.Ala957Glnfs*15;Restless legs syndrome (1);0.4;3,2;Heterozygous
25;3;15:48780634;-/C;NA;NA;NA;NA;NA;NA;29.9;NA;FBN1;frameshift_variant;NM_000138.4:c.3139_3140insG;NP_000129.3:p.Thr1047Serfs*6;"Marfan syndrome (1686); Marfan syndrome, incomplete (62); Aortopathy (40); Marfan syndrome features (33); Ectopia lentis (32); Fibrillinopathy (29); Thoracic aortic aneurysms and dissections (24); Marfan syndrome, neonatal (16); Aortic aneurysm (14); Adolescent idiopathic scoliosis (13); Marfan syndrome with aortopathy (11); Acromicric dysplasia (9); Geleophysic dysplasia (9); Thoracic aortic disorder, syndromic (7); Thoracic aortic aneurysms & dissections, association with (6); Weill-Marchesani syndrome (6); Fibrillinopathy, type 1 (4); Stiff skin syndrome (4); Thoracic aortic aneurysm or dissection (4); Aortic aneurysm, thoracic (3); Bicuspid aortic valve (3); Progeroid facial features & lipodystrophy (3); Abdominal aortic aneurysm (2); Ectopia lentis, isolated form (2); Geleophysic / acromicric dysplasia (2); High myopia (2); Marfan syndrome with intracranial hypertension (2); Marfan syndrome, early-onset (2); Mitral valve prolapse (2); Progeroid fibrillinopathy (2); Shprintzen-Goldberg syndrome (2); Aortic dissection (1); Bilateral lens dislocation and glaucoma (1); Birt-Hogg-Dub<U+FFFD> syndrome (1); Cataract, autosomal recessive (1); Congenital heart disease (1); Congenital heart disease with neurodevelopmental disability (1); Diaphragmatic hernia, congenital (1); Ectopia lentis & aortic aneurysm / dissection (1); Ectopia lentis & varicose great saphenous vein (1); Ehlers-Danlos syndrome (1); Furlong syndrome (1); Hirschsprung disease (1); Idiopathic arthritis & mitral valve prolapse (1); Immunodeficiency, primary, modifier of (1); Kyphoscoliosis (1); Lens luxation and striae (1); Loeys-Dietz syndrome (1); Marfan syndrome & schizophrenia (1); Marfan syndrome with lipodystrophy (1); Marfan syndrome, neonatal progeroid (1); Mental retardation and/or developmental delay (1); Scleroderma, protection against, association with (1); Stiff skin syndrome with ectopia lentis (1); Sudden cardiac death (1); Tall stature and ectopia lentis (1); Tall stature, association with (1); Thoracic aortic aneurysm (1); Thoracic aortic disorder, nonsyndromic (1); Weill-Marchesani syndrome with thoracic aortic disease (1)";0.5;2,2;Heterozygous
32;8;5:107717010;GCGGCGGCGGCGGCCGAGGATAGCAGGAAGCGGCGGGCAGCAGCGGCGCAGTCCTCGGCGGCCAGGGCCGCGTAGCGCCGCGCCAGGTGCTGAGAGGAGGAGGCGGCAGCGTAGGCCCCGTCCC/-;NA;NA;NA;NA;NA;NA;38;NA;FBXL17;frameshift_variant;NM_001163315.2:c.260_383del;NP_001156787.2:p.Arg87Profs*230;Parkinson disease, early onset (1);0.5;3,3;Heterozygous
17;21;8:28314376;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;39;NA;FBXO16;stop_gained;NM_172366.3:c.414G>A;NP_758954.1:p.Trp138Ter;NA;0.285714;5,2;Heterozygous
17;21;10:5966737;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;6.704;NA;FBXO18;stop_gained;NM_032807.4:c.2749+266C>T;NA;"Autism (1); Breast cancer, decreased risk (1)";0.4;3,2;Heterozygous
24;27;19:50017231;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;37;NA;FCGRT;stop_gained;NM_004107.4:c.166C>T;NP_004098.1:p.Gln56Ter;NA,NA,NA,NA,NA,NA,NA,NA,NA,NA,Increased transcription (1);0.333333;4,2;Heterozygous
17;21;5:141024691;AGTC/-;NA;NA;0.00264567;83;0;NA;34;NA;FCHSD1;frameshift_variant;NM_033449.2:c.1333_1336delGACT;NP_258260.1:p.Asp445Leufs*42;NA;0.5;3,3;Heterozygous
35;26;11:125365346;-/T;NA;NA;NA;NA;NA;NA;20.2;NA;FEZ1,LOC403312;frameshift_variant;NM_005103.4:c.-46+671_-46+672insA,NM_001301851.1:c.121_122insT;,NP_001288780.1:p.Ala41Valfs*18;NA,NA;0.419355;18,13;Heterozygous
30;7;10:123298213;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;44;NA;FGFR2;stop_gained;NM_000141.4:c.641G>A;NP_000132.3:p.Trp214Ter;"Crouzon syndrome (59); Pfeiffer syndrome (28); Apert syndrome (20); Craniosynostosis (12); Jackson-Weiss syndrome (6); Hypospadias (5); Beare-Stevenson cutis gyrata syndrome (3); Lacrimo-auriculo-dento-digital syndrome (3); Bent bone dysplasia (2); Breast cancer, increased risk, association with (2); Cleft lip and palate (2); Autism spectrum disorder (1); Breast cancer, reduced risk, association with (1); Cleft lip with or without cleft palate (1); Cleft lip, non-syndromic (1); Congenital anomalies of the kidney and urinary tract (1); Craniosynostosis, predisposition to (1); Crouzon / Pfeiffer syndrome (1); Crouzon syndrome, atypical (1); Ectrodactyly and acinar dysplasia (1); Ovotesticular disorder of sex development (1); Papillomatous pedunculated sebaceous naevus (1); Reduced transcription (1); Renal agenesis (1); Saethre-Chotzen syndrome (1); Scaphocephaly (1)";0.4;3,2;Heterozygous
25;3;16:67270561;GCTGGAGGCGGGGCCTGTCAGCAGGGCGGGGCCGGTGGAAGAGGTGGGGCCTACCGGTGAGGCGGGGCCTGTGGGGCTGAAAGCAGGGGCTGTCAGTGGGGCGGGGCCTGAGAA/-;NA;NA;NA;NA;NA;NA;10.259;NA;FHOD1;splice_acceptor_variant;NM_001318202.1:c.1143-38_1218del;NP_001305131.1:p.?;NA;0.6;2,3;Heterozygous
30;7;6:110086228;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;38;NA;FIG4;stop_gained;NM_014845.5:c.1447C>T;NP_055660.1:p.Arg483Ter;"Charcot-Marie-Tooth disease 4J (19); Amyotrophic lateral sclerosis (16); Charcot-Marie-Tooth disease (8); Yunis-Varon syndrome (5); Peripheral neuropathy (4); Amyotrophic lateral sclerosis, sporadic (3); Primary lateral sclerosis, adult, 1 (2); Epilepsy with polymicrogyria (1)";0.333333;4,2;Heterozygous
24;27;17:43319357;GCGCCGCCGCTGCCCGGAGACCTGCCGCCCCCACCCCCGCCACCGCCACCACCTCCGGGCACTGACGGGCCGGTGCCTCCGCCGCCGCCGCC/-;NA;NA;NA;NA;NA;NA;36;NA;FMNL1;frameshift_variant;NM_005892.3:c.1731_1822del;NP_005883.2:p.Pro578Alafs*9;NA;0.428571;4,3;Heterozygous
24;27;9:132686122;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;FNBP1;splice_donor_variant;NM_015033.2:c.1170+1G>A;NA;Anorectal malformation (1);0.333333;4,2;Heterozygous
11;17;6:159653371;CCCAGGGGCGCCCCCCTCGGCTTCGGCCTCTCCTGCCCACCACGCGTCCACCCAGGGCACCTCTCATCGTCCTTCCCTGCCTGCCAGCTTGAATGACAACGACTTGGTGGACTCAGACGAAGATGAGCGCGCTGTGGGCTCCCTCCAC/-;NA;NA;NA;NA;NA;NA;36;NA;FNDC1;frameshift_variant;NM_032532.2:c.1827_1974del;NP_115921.2:p.Gly611Argfs*77;NA;0.5;2,2;Heterozygous
17;21;9:20986283;GCAGAGC/-;NA;NA;NA;NA;NA;NA;32;NA;FOCAD;splice_acceptor_variant;NM_017794.4:c.4729-4_4731delGCAGAGC;NP_060264.4:p.?;"Adenomatous polyposis coli (4); Colorectal cancer (4)";0.4;3,2;Heterozygous
2;10;11:71906793;T/C;NA;NA;0.00108432;34;0;2 of 6 Predicted as Damaging;25.2;Benign(1),Pathogenic(1),Uncertain Significance(4);FOLR1;splice_donor_variant;NM_016725.2:c.493+2T>C;NA;"Cerebral folate transport deficiency (15); Hyperhomocysteinaemia (5); Neural tube defects (4)";0.428571;4,3;Heterozygous
17;21;3:138664694;GGGGGTGCGGCGGAGGC/-;NA;NA;NA;NA;NA;NA;34;Pathogenic (3);FOXL2;frameshift_variant;NM_023067.3:c.855_871del;NP_075555.1:p.Pro287Alafs;"Blepharophimosis/ptosis/epicanthus inversus syndrome (197); Blepharophimosis/ptosis/epicanthus inversus syndrome with lacrimal gland agenesis (3); Premature ovarian failure (3); Blepharophimosis/ptosis/epicanthus inversus syndrome & triple X syndrome (2); Double outlet right ventricle (1); Primary ovarian insufficiency (1)";0.333333;4,2;Heterozygous
24;27;17:79507901;G/A;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;50;NA;FAAP100;stop_gained;NM_025161.5:c.2590C>T;NP_079437.5:p.Gln864Ter;NA;0.4;3,2;Heterozygous
30;7;9:92220021;GCTGGTTGATCGCACTATGACTCTGGAAGAAGTCCGCGGCCAGGACACAGTTCCGGAAAGCACAGCCAGGTGGGTTTCAGGGCGCTGAGAAAGCC/-;NA;NA;NA;NA;NA;NA;43;NA;GADD45G;frameshift_variant;NM_006705.3:c.-10_53+32del;NP_006696.1:p.Met1Profs*160;NA;0.8;1,4;Heterozygous
32;8;9:89561040;GCAGCGCCGCCTTGGGCATAGCCAGCATGTCCTCAATGACGGTGCGGCATTCGTCCGTGCAGCGCAGCCCGTTGAAGACTTTGCCGCAGTAGGTCAGGTAGCGGCTCAGCGCCAGGTTGCAGCGGCTGTCGCGGTC/-;NA;NA;NA;NA;NA;NA;36;NA;GAS1;frameshift_variant;NM_002048.2:c.520_655del;NP_002039.2:p.Asp174Serfs*160;"Holoprosencephaly (3); Holoprosencephaly-like phenotype (3)";0.666667;2,4;Heterozygous
17;21;10:104141944;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;44;NA;GBF1;stop_gained;NM_004193.2:c.5431C>T;NP_004184.1:p.Gln1811Ter;Chronic obstructive pulmonary disease (2);0.333333;4,2;Heterozygous
33;8;9:136030564;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;23.9;NA;GBGT1;splice_donor_variant;NM_021996.5:c.359+1G>A;NA;NA;0.285714;5,2;Heterozygous
24;27;19:13002300;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;29.6;NA;GCDH;splice_acceptor_variant;NM_000159.3:c.92-1G>A;NA;"Glutaricacidaemia I (193); Glutaric acidaemia type I (5)";0.4;3,2;Heterozygous
17;21;12:120591547;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;33;NA;GCN1;splice_donor_variant;NM_006836.1:c.3867+1G>A;NA;NA;0.4;3,2;Heterozygous
17;21;15:59911596;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;46;NA;GCNT3;stop_gained;NM_004751.2:c.1159C>T;NP_004742.1:p.Gln387Ter;NA;0.333333;4,2;Heterozygous
30;7;17:57344498;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;38;NA;GDPD1;stop_gained;NM_182569.3:c.673C>T;NP_872375.2:p.Gln225Ter;NA,NA,NA;0.333333;4,2;Heterozygous
23;26;11:75153529;GCCAGCTCCAGGAGCTCTGCCAGGCTGCAGATGGACTGGTTCTGGGCCTCTCTGTGGTCGGAGGGTGACAGGGAGCTGGCTGTCCAGAAGGGGTCAGTCTGGCAGGGACAGGGACACACACATGGCTGCATCATCAGCCCTTT/-;NA;NA;NA;NA;NA;NA;43;NA;GDPD5;splice_acceptor_variant;NM_030792.6:c.949-45_1046del;NP_110419.5:p.?;Schizophrenia (1);0.6;2,3;Heterozygous
32;8;11:59599270;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;27.9;NA;GIF;splice_acceptor_variant;NM_005142.2:c.1074-1G>A;NA;Intrinsic factor deficiency (19);0.5;2,2;Heterozygous
33;8;7:150171600;AGATATAGTGCCTTCAACTACCGGGCAACAGGAGA/-;NA;NA;0.00739513;232;1;NA;25.6;NA;GIMAP8;frameshift_variant;NM_175571.3:c.1186_1220del;NP_783161.1:p.Tyr396Argfs*13;"Autism (2); Lymphoproliferative disorder (2)";0.555556;4,5;Heterozygous
8;15;15:51692446;CCAGTGAACACCATTCCCCACAAGCAGGTATAGAAACAAAGCGTCCTGTCTTGAAATTCAGAAATTGAATACCTTCAAGTCATAATTGGCAGGCAAGTGACTTTCTTTTCTCTTCTTTTGGCAGAATCCATGATCACTTCCATTGGAAAC/-;NA;NA;NA;NA;NA;NA;9.07765;NA;GLDN;frameshift_variant;NM_181789.2:c.881_901+129del;NP_861454.2:p.Glu294Alafs*25;Arthrogryposis, lethal (6);0.428571;4,3;Heterozygous
24;27;2:121742142;-/TGTCTCTTATACACATCTCG;NA;NA;NA;NA;NA;NA;25.5;NA;GLI2;frameshift_variant;NM_005270.4:c.1778_1779ins(20);NP_005261.2:p.His594Valfs*108;"Holoprosencephaly-like phenotype (19); Hypopituitarism (14); Holoprosencephaly (7); Craniofacial anomalies (6); Cleft lip (4); Holoprosencephaly 9 (3); Hypopituitarism & ectopic posterior pituitary lobe (3); Autism spectrum disorder (2); Holoprosencephaly, lobar (2); Multiple pituitary hormone deficiency (2); Growth hormone deficiency, polydactyly, deep vein thrombosis & urogenital abnormalities (1); Growth retardation (1); Hirschsprung disease (1); Holoprosencephaly spectrum phenotype (1); Holoprosencephaly with anophthalmia, branchial arch anomalies & CNS anomalies (1); Holoprosencephaly with heminasal aplasia & orbital anomalies (1); Hypogonadotropic hypogonadism (1); Hypopituitarism and/or post-axial polydactyly (1); Isolated growth hormone deficiency (1); Medulloblastoma (1); Nasal pyriform aperture atresia (1); Partial corpus callosum agenesis & severe intrauterine growth retardation (1); Schizophrenia (1); Solitary median maxillary central incisor and choanal atresia (1)";0.285714;5,2;Heterozygous
24;27;8:37794576;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;25.5;NA;GOT1L1;splice_acceptor_variant;NM_152413.2:c.520-1G>A;NA;NA;0.5;2,2;Heterozygous
35;26;2:207041527;G/A;NA;NA;0.000573394;18;0;2 of 6 Predicted as Damaging;37;NA;GPR1;stop_gained;NM_005279.3:c.445C>T;NP_005270.2:p.Arg149Ter;NA;0.5;14,14;Heterozygous
17;21;11:67219097;G/A;NA;NA;3.19E-05;1;0;1 of 6 Predicted as Damaging;36;NA;GPR152;stop_gained;NM_206997.1:c.1099C>T;NP_996880.1:p.Arg367Ter;Autism spectrum disorder (1);0.285714;5,2;Heterozygous
19;24;1:6309885;GGTGCGTCCTCCGCGAAGGCCAGGAGGCTGGCGCGGCGCCGCTCGGGCCCGGCAGGCAGCACCAGGTGCGCCAGGGCGGCCAGGTCCTCGCCGGAGCCCCAGCGCGGCAGGAAGGCGGGCAGCGGGACGGC/-;NA;NA;NA;NA;NA;NA;43;NA;GPR153;frameshift_variant;NM_207370.2:c.1213_1343del;NP_997253.2:p.Ala405Thrfs*22;NA;0.4;3,2;Heterozygous
32;8;8:142367527;CAGGCAGGCTGGCGGCAGCGGCGGGAGCCTTCGGGCCGCACGATGGCCAGGTAGCGGTCCACGCAGATGCAGGTGAGGAAGAGGATGGAGCAGTGCATGTTGAGGAAGTAACCGAGGACGTGCGGGAAGGCACAGCG/-;NA;NA;NA;NA;NA;NA;49;NA;GPR20;frameshift_variant;NM_005293.2:c.361_497del;NP_005284.2:p.Arg121Cysfs*153;NA;0.75;1,3;Heterozygous
30;7;2:11780495;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;48;NA;GREB1;stop_gained;NM_014668.3:c.5765G>A;NP_055483.2:p.Trp1922Ter;NA;0.4;3,2;Heterozygous
2;10;19:42563584;-/ACCCATCAACGGTCTGACGCAACTTGATGGCGTCTCGGTGCTCGAGAAGATGGGCAAGGAAAGGATGCTC;NA;NA;NA;NA;NA;NA;27.3;NA;GRIK5;frameshift_variant;NM_001301030.1:c.604_605ins(70);NP_001287959.1:p.Leu202Argfs*22;NA;0.5;4,4;Heterozygous
24;27;16:12009451;GGCCCGGCCCGGGGGCTTCCATGTCCGCCTGGTCCCAGCAGTCAGGCGCCGAGTCGCTGCTGCTGCTGCCGCTGCTGCTCCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC/-;NA;NA;NA;NA;NA;NA;41;NA;GSPT1;frameshift_variant;NM_002094.3:c.16_127del;NP_002085.2:p.Gly6Leufs*104;NA,NA,Cancer suceptibility, association with (1);0.75;1,3;Heterozygous
35;26;2:144934759;C/T;NA;NA;0.000972006;30;0;0 of 6 Predicted as Damaging;3.458;NA;GTDC1;stop_gained;NM_001006636.3:c.179+31411G>A;NA;NA;0.56;11,14;Heterozygous
17;21;19:6381628;T/C;NA;NA;0.00264415;83;0;2 of 6 Predicted as Damaging;23.8;NA;GTF2F1;splice_acceptor_variant;NM_002096.2:c.837-2A>G;NA;NA;0.4;3,2;Heterozygous
11;17;4:44700684;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;GUF1;stop_gained;NM_021927.2:c.1996C>T;NP_068746.2:p.Gln666Ter;West syndrome (1);0.5;2,2;Heterozygous
23;26;3:123303675;TCCCCGGCCGCGCTGGCTCCCCGCCTCCCCGAGCCCCAGCCTCACCCGGCTGTCATCACCACATTGTAGATGACCAGGTACGCCGTGGCCAGGGGCCCCGGGCCCTTCTTCTTCCGCGTGCCGCTGGCG/-;NA;NA;NA;NA;NA;NA;20.6198;NA;HACD2;splice_donor_variant;NM_001329783.1:c.72_155+45del;NP_001316712.1:p.?;NA;0.5;2,2;Heterozygous
17;21;2:26457168;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;HADHA;stop_gained;NM_000182.4:c.370C>T;NP_000173.2:p.Gln124Ter;"Mitochondrial trifunctional protein deficiency (60); Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (5); Haemolysis, elevated liver enzymes, and low platelets (1); Mitochondrial trifunctional protein / long-chain 3-hydroxy acyl-CoA dehydrogenase deficiency (1); Mitochondrial trifunctional protein deficiency & rhabdomyolysis (1)";0.4;3,2;Heterozygous
11;17;12:48213518;GGCGGGGCGGGGGGCGGCCGCCCAGTACTCACCAGCGCCGGGGCTGTGCATCCAGGGGCCGGGGCCCTCAGAGCGGGGGGCTCAT/-;NA;NA;NA;NA;NA;NA;28.1;NA;HDAC7;frameshift_variant;NM_015401.4:c.-34_19+32del;NP_056216.2:p.Met1Glnfs*164;NA;0.375;5,3;Heterozygous
17;21;3:124731466;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;27.9;NA;HEG1;splice_donor_variant;NM_020733.1:c.2956+1G>A;NA;NA;0.285714;5,2;Heterozygous
23;26;7:75185341;CCAGTTTGAGCTGAGTGTCCTGCAGTTCTTTCCGAAGAGCAGATAATTCCTCCTCCCTATGAGCTGCGCCACTCACCAGGCTGTCCCGCTCCTTCTCTAGCTCGGCGAACTCGGCTGC/-;NA;NA;NA;NA;NA;NA;37;NA;HIP1;frameshift_variant;NM_005338.6:c.1699_1816del;NP_005329.3:p.Ala567Profs*29;"Epilepsy & learning difficulties (5); Ovarian cancer (1)";0.5;2,2;Heterozygous
33;8;22:19384419;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;40;NA;HIRA;stop_gained;NM_003325.3:c.545G>A;NP_003316.3:p.Trp182Ter;"Intellectual disability (1); Nasopharyngeal teratoma, congenital diaphragmatic hernia & Dandy-Walker malformation (1)";0.333333;4,2;Heterozygous
17;21;6:32905072;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;39;NA;HLA-DMB;stop_gained;NM_002118.4:c.499C>T;NP_002109.2:p.Gln167Ter;Altered transcriptional activity (2);0.4;3,2;Heterozygous
17;21;6:32781004;G/A;NA;NA;NA;NA;NA;0 of 6 Predicted as Damaging;36;NA;HLA-DOB;stop_gained;NM_002120.3:c.811C>T;NP_002111.1:p.Gln271Ter;Fecundability, association with (1);0.285714;5,2;Heterozygous
34;2;9:133300515;C/T;NA;NA;0.000191424;6;0;1 of 6 Predicted as Damaging;37;NA;HMCN2;stop_gained;NM_001291815.1:c.12127C>T;NP_001278744.1:p.Gln4043Ter;NA;0.64;9,16;Heterozygous
24;27;5:74654994;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;24.9;NA;HMGCR;splice_acceptor_variant;NM_000859.2:c.2158-1G>A;NA;"Altered splicing (1); Altered transcriptional activity (1)";0.333333;4,2;Heterozygous
17;21;6:79924735;G/-;NA;NA;NA;NA;NA;NA;26.2;NA;HMGN3;frameshift_variant;NM_001201363.1:c.20delC;NP_001188292.1:p.Pro7Glnfs*12;NA;0.285714;5,2;Heterozygous
17;21;2:138762796;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;HNMT;splice_donor_variant;NM_006895.2:c.523+1G>A;NA;"Intellectual disability, nonsyndromic (2); Lower HNMT level, association with (1); Urticaria, chronic, aspirin intolerant, reduced risk, association with (1)";0.333333;4,2;Heterozygous
32;8;2:178081454;GGTGGTGGAGGTAATTTTGGCCGTGGTGGAAACTTTGGTGGAAGAGGTAGGCTGTTTATCTTCTAAGTACATGGATACCTGACATTTTGGTAAGTTGAATATATTATTTTAATTCATTTCTTGTTTTTCCTCAGGAGGCTAT/-;NA;NA;NA;NA;NA;NA;42;NA;HNRNPA3;splice_acceptor_variant;NM_194247.3:c.694_739+96del;NP_919223.1:p.?;NA;0.4;3,2;Heterozygous
2;10;11:62494476;GGCCCCGCCGCCGCCGGCCTCGTCCTCGAGCATCTCGGCGTCCAGCGCCTCCTGCAGCCGCTGCGCCAGATCCACCTTGAGGCCGCGCGAGTCCA/-;NA;NA;NA;NA;NA;NA;37;NA;HNRNPUL2;frameshift_variant;NM_001079559.2:c.59_153del;NP_001073027.1:p.Leu20Argfs*40;NA,NA;0.571429;3,4;Heterozygous
24;27;7:27149974;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;35;NA;HOXA3;stop_gained;NM_030661.4:c.286C>T;NP_109377.1:p.Gln96Ter;NA;0.4;3,2;Heterozygous
24;27;10:100249954;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;33;NA;HPSE2;splice_acceptor_variant;NM_021828.4:c.1321-1G>A;NA;"Urofacial syndrome (10); Vesicoureteric reflux (4)";0.333333;4,2;Heterozygous
9;15;8:21982703;GCCAGGGGCTCTTCTGAGGTTGCCTTAGGTCTAGGAGCTGGCAGTGTGGGTGGGGTCAGGGGAGGGACACCTGGGGCTCCCCACACAGAGACCCCACGCAGACCCAGGAGGTCCTGTTCACCTTCCCGCTGGGCCCAA/-;NA;NA;NA;NA;NA;NA;6.48386;NA;HR;splice_donor_variant;NM_005144.4:c.1734_1750+121del;NP_005135.2:p.?;"Atrichia with papular lesions (37); Congenital atrichia (9); Alopecia universalis (5); Alopecia universalis and limb deformities (1)";0.5;2,2;Heterozygous
30;7;2:20850731;TCTCCGCCCGGGCGCCCCGGACTGCGAGCTGTGCGGTGTGGGGCGCGGGGGTCTGGCTCACCTGGAGGTGACGAGCACCGCCGGGGACTGCATGACGGCGGCGGGGACTCCGGGCGGGGCGCGCAGTCACGGGACCCGGCAGTGCCCGCGTCACCGCG/-;NA;NA;NA;NA;NA;NA;35;NA;HS1BP3;frameshift_variant;NM_022460.3:c.-41_32+61del;NA;Essential tremor, association with (1);0.444444;5,4;Heterozygous
2;10;4:8272010;GGCCAGCCGCCGCGCGCTGCAGCTCTCCGGGACGCCCGTGCGCCAGCTGCAGAAGGGCGCCTGCCCGTTGGGTAAGCGCTCGGG/-;NA;NA;NA;NA;NA;NA;18.6912;NA;HTRA3;splice_donor_variant;NM_053044.4:c.321_385+19del;NP_444272.1:p.?;NA;0.333333;4,2;Heterozygous
17;21;21:33246144;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;HUNK;stop_gained;NM_014586.1:c.157C>T;NP_055401.1:p.Gln53Ter;NA;0.5;2,2;Heterozygous
9;15;1:220273747;TAATTATCATTTTATCTTTGCAGATTTTGAAATACATGGCCAAATATTTTATGTATGAATGA/-;NA;NA;0.000159398;5;0;NA;6.275;NA;IARS2;splice_acceptor_variant;NM_018060.3:c.391-53_399del;NP_060530.3:p.?;"NA,Leigh syndrome (2); CAGSSS (1)";0.428571;4,3;Heterozygous
35;26;15:60742041;C/G;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;24.2;NA;ICE2;splice_acceptor_variant;NM_024611.5:c.1126-1G>C;NA;NA;0.375;25,15;Heterozygous
33;8;3:50327712;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;39;NA;IFRD2;stop_gained;NM_006764.4:c.469C>T;NP_006755.4:p.Gln157Ter;NA;0.285714;5,2;Heterozygous
17;21;3:118649078;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;IGSF11;stop_gained;NM_001015887.1:c.97C>T;NP_001015887.1:p.Gln33Ter;NA;0.285714;5,2;Heterozygous
17;21;11:18741652;T/A;NA;NA;0.00162482;51;0;2 of 6 Predicted as Damaging;25.2;NA;IGSF22;splice_acceptor_variant;NM_173588.3:c.479-2A>T;NA;Schizophrenia (1);0.571429;3,4;Heterozygous
16;21;2:219920571;GGCTGCGGCCGAGTGCTCTGTGGGAGAAAGGGACATGAAGGTGTTACTGCTGTGCAGCTCAGCCTCCTGGTCACAACGACCCTCCCTTGGCCACCCCAGCCAGCCAGAGCTCCTCTTGCTCCCAGAGAGCCCCCGTCACCATATCCCAGCTCCTGCCCCCCACTTC/-;NA;NA;NA;NA;NA;NA;44;NA;IHH;splice_acceptor_variant;NM_002181.3:c.578-149_594del;NP_002172.2:p.?;"Brachydactyly type A1 (11); Acrocapitofemoral dysplasia (2); Syndactyly, Philadelphia type (2); Acrocallosal-like syndrome (1); Craniosynostosis, philadephia type (1); Syndactyly (1); Syndactyly I (1)";0.6;2,3;Heterozygous
30;7;3:190345178;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;44;NA;IL1RAP;stop_gained;NM_001167931.1:c.842G>A;NP_001161403.1:p.Trp281Ter;NA;0.285714;5,2;Heterozygous
33;8;19:50394661;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;25.5;NA;IL4I1;splice_donor_variant;NM_172374.2:c.702+1G>A;NA;NA,NA,NA,NA,NA,NA,NA,NA,NA,NA,NA;0.333333;4,2;Heterozygous
14;19;1:153635753;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;32;NA;ILF2;splice_acceptor_variant;NM_004515.3:c.745-1G>A;NA;NA,NA,Autism spectrum disorder (1);0.5;2,2;Heterozygous
17;21;2:242651404;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;44;NA;ING5;stop_gained;NM_001330161.1:c.406C>T;NP_001317090.1:p.Gln136Ter;NA;0.333333;4,2;Heterozygous
2;10;1:38397327;TCCCGCCGCCCGCCGAACCTGCAGTGTTGCGCTCCCGAGAGCCGGCGGCGGCAGACATTTCCCTGCCTGCTTCCTCAAGCTCCTCA/-;NA;NA;NA;NA;NA;NA;21.8;NA;INPP5B;frameshift_variant;NM_005540.2:c.532+173_532+258del;NA;Dent disease 2 (1);0.545455;5,6;Heterozygous
19;24;11:71941360;CTGGCCTAGGGGCACAGGCCCATGTGACCGGTCCTCCATGCCCTAGTCCGCCAGCTCATTAAGTCCCAGCGTGTCCAGAACAAGCTGGGTGTTGTGTTTGAGAAGGAGAAGGACCGGACTCAGCGCAAGGACTTCATCTTTGTCAGTGCCCGGGTGAGCAGCAGGCTGGGCCAGGCCA/-;NA;NA;NA;NA;NA;NA;39;NA;INPPL1;frameshift_variant;NM_001567.3:c.1091-42_1197+29del;NP_001558.3:p.Ile364Lysfs*66;"Opsismodysplasia (25); Cleft lip and/or palate (2); Schizophrenia (1)";0.5;2,2;Heterozygous
23;26;11:15197401;TGCACAGGGTGACCTCATCCTGGCAGGTGGCCCTGGCCCTGGAGACCCCCTGCAGCTGCTGCTCAAACGGGGTTGGGTCATTAGCACAGAGCTGCGCAGGATCGGGCAGAAGCTGGCCCAGGACCGCTGGGCACGGG/-;NA;NA;NA;NA;NA;NA;41;NA;INSC;frameshift_variant;NM_001031853.4:c.319_455del;NP_001027024.3:p.Gly107Hisfs*31;NA;0.75;2,6;Heterozygous
17;21;17:59962358;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;38;NA;INTS2;stop_gained;NM_020748.2:c.2017C>T;NP_065799.1:p.Gln673Ter;NA,NA,NA;0.4;3,2;Heterozygous
30;7;1:156510643;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;IQGAP3;stop_gained;NM_178229.4:c.2596C>T;NP_839943.2:p.Gln866Ter;"NA,NA,Autism (1); Autism spectrum disorder (1); Rett syndrome, atypical (1)";0.4;3,2;Heterozygous
23;26;13:110435834;GCCCCGAAGGCGCTGGCCGCCTGGCTGGGCCCTGGCGTGGCCTGAGGCTCCAGACGCTCCTCCTCCAGGATGCGCCCCACGGGGGAGCTCATGAGCACGTACTGGTCGCTGTCCCCGCCACAGGTGTAGGGGGCCTTGTAGGAGCGGGGCAAGGAGCTGTAGCAGCAGCCGGGAAC/-;NA;NA;NA;NA;NA;NA;46;NA;IRS2;frameshift_variant;NM_003749.2:c.2392_2567del;NP_003740.2:p.Val798Argfs*17;"Insulin resistance, severe (8); Colorectal cancer (1); Diabetes in overweight people, association with (1); Diabetes, type 2 (1)";0.6;2,3;Heterozygous
17;21;3:128852998;-/CT;NA;NA;NA;NA;NA;NA;23;NA;ISY1,ISY1-RAB43;frameshift_variant;NM_001199469.1:c.647_648dupAG,NM_001204890.1:c.581_582dupAG;NP_001186398.1:p.Ala217Argfs,NP_001191819.1:p.Ala195Argfs*136;NA,NA;0.6;2,3;Heterozygous
22;26;17:3658410;-/TCAGGTGGCCCCG;NA;NA;NA;NA;NA;NA;25;NA;ITGAE;splice_donor_variant;NM_002208.4:c.1384+1_1384+2insCGGGGCCACCTGA;NA;Colorectal cancer, increased risk, association with (1);0.5;2,2;Heterozygous
2;10;17:73736543;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;32;Uncertain significance (1);ITGB4;splice_donor_variant;NM_001005731.2:c.2550+1G>A;NA;"Epidermolysis bullosa with pyloric atresia (82); Epidermolysis bullosa, junctional (4); Breast cancer (1); Desquamative enteropathy with pyloric atresia (1); Epidermolysis bullosa (1); Epidermolysis bullosa simplex (1); Epidermolysis bullosa, autosomal dominant (1); Epidermolysis bullosa, without pyloric atresia (1); Nephrotic syndrome, steroid resistant (1)";0.333333;4,2;Heterozygous
24;27;2:24518547;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;38;NA;ITSN2;stop_gained;NM_006277.2:c.1621C>T;NP_006268.2:p.Gln541Ter;Autism (1);0.333333;4,2;Heterozygous
14;19;5:133871606;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;33;NA;JADE2;splice_donor_variant;NM_001289985.1:c.106+1G>A;NA;NA;0.4;3,2;Heterozygous
2;10;9:4985174;G/T;NA;NA;3.19E-05;1;0;NA;7.929;NA;JAK2;splice_donor_variant;NM_001322194.1:c.-507G>T;NA;NA;0.4;3,2;Heterozygous
14;19;10:65225244;GACTCTCTTACCGCCAGGTCCGGATTGCGGCTGTCCCTGTGTGACACGGCTCGGATGACCCC/-;NA;NA;NA;NA;NA;NA;40;NA;JMJD1C;splice_donor_variant;NM_032776.2:c.118_168+11del;NP_116165.1:p.?;"Congenital heart disease in 22q11.2 deletion syndrome patients (10); Intracranial germ cell tumour, increased risk (6); Autism spectrum disorder (4); Intellectual disability (3); Autism (1); Rett syndrome (1); White blood cell count, association with (1),NA";0.4;3,2;Heterozygous
17;21;16:87678642;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;JPH3;splice_donor_variant;NM_020655.3:c.1160+1G>A;NA;Huntington disease-like 2 (1);0.4;3,2;Heterozygous
24;27;17:44110407;CTCTCCACAGGCCCTGGGGACCCAAGCCTGCCCCATCACCTGCTGCCCCGCCGCTGGGGTGGCACACTCGTGGTCCACAGCCACCGTGCC/-;NA;NA;NA;NA;NA;NA;18.3372;NA;KANSL1;splice_donor_variant;NM_001193466.1:c.2787_2837+39del;NP_001180395.1:p.?;"NA,NA,17q21.31 microdeletion syndrome (55); Autism spectrum disorder (3); KANSL1 haploinsufficiency syndrome (3); Red blood cell count, association with (2); Heart defect, craniofacial anomalies, learning difficulties/developmental delay, epilepsy, and renal abnormalities (1); Koolen-de vries syndrome (1)";0.5;3,3;Heterozygous
33;8;8:41792283;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;39;NA;KAT6A;stop_gained;NM_006766.4:c.3455G>A;NP_006757.2:p.Trp1152Ter;"Hypotonia, intellectual disability, feeding/oromotor difficulties, microcephaly/craniosynostosis, cardiac & facial defects (6); Neurodevelopmental disorder (5); Microcephaly, developmental delay & craniofacial dysmorphism (2); Mental retardation, autosomal dominant (1); Neutropaenia, congenital, and intellectual disability (1)";0.285714;5,2;Heterozygous
30;7;1:112322846;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;KCND3;splice_donor_variant;NM_004980.4:c.1461+1G>A;NA;"Spinocerebellar ataxia 22 (4); Spinocerebellar ataxia 19 (3); Brugada syndrome (2); Sudden unexplained death syndrome (2); Atrial fibrillation, lone, early-onset (1); Cardiac arrhythmia (1); Early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy (1); Sudden infant death syndrome (1)";0.333333;4,2;Heterozygous
33;8;4:21305508;T/-;NA;NA;NA;NA;NA;NA;22.4;NA;KCNIP4;frameshift_variant;NM_025221.5:c.62-421176delA;NA;Renal cell carcinoma (1);0.285714;5,2;Heterozygous
7;14;1:196227485;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;48;NA;KCNT2;stop_gained;NM_198503.3:c.3050G>A;NP_940905.2:p.Trp1017Ter;NA,NA,NA;0.5;2,2;Heterozygous
24;27;2:86682244;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;KDM3A;stop_gained;NM_018433.5:c.490C>T;NP_060903.2:p.Gln164Ter;"Intellectual disability (1); Premature ovarian failure (1)";0.4;3,2;Heterozygous
8;15;12:402321;T/-;NA;NA;NA;NA;NA;NA;16.84;NA;KDM5A;frameshift_variant;NM_001042603.2:c.4470delA;NP_001036068.1:p.Glu1491Argfs*4;"Breast cancer (1); Congenital heart disease (1); Intellectual disability (1)";0.5;2,2;Heterozygous
17;21;1:202711811;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;43;NA;KDM5B;stop_gained;NM_001314042.1:c.2554C>T;NP_001300971.1:p.Gln852Ter;"NA,NA,Schizophrenia (11); Congenital heart disease with neurodevelopmental disability (2); Congenital heart disease (1); Intellectual disability, nonsyndromic (1)";0.333333;4,2;Heterozygous
9;15;7:139876474;CGGCCGGCGGCGGCGGCGGTTGGTCGGTGGCCGGCGGTGGCGGCTGCGGGGCTGGAGGGGGTTTATTTACCTGCCGTGGAACCAGTCCTTGCAGATATCGCACTCGATCATGAAGCGGTTCACGTCGTACGGCTGCCGGCACACACAGTACACGGGCGGGGGCGGCGGAGGCGCCGAGGCC/-;NA;NA;NA;NA;NA;NA;38;NA;KDM7A;splice_donor_variant;NM_030647.1:c.84_194+70del;NP_085150.1:p.?;Cerebral palsy (1);0.5;3,3;Heterozygous
24;27;3:44893319;G/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;35;NA;KIF15;stop_gained;NM_020242.2:c.3847G>T;NP_064627.1:p.Glu1283Ter;NA;0.285714;5,2;Heterozygous
17;21;2:241725897;G/-;NA;NA;NA;NA;NA;NA;27.1;NA;KIF1A;frameshift_variant;NM_004321.7:c.463delC;NP_004312.2:p.Arg155Valfs*4;"Intellectual disability, spastic paraparesis and cerebellar atrophy (5); Intellectual deficit, cerebellar atrophy, lower limb spasticity & visual disturbance (4); Intellectual disability and spastic paraparesis (4); Spastic paraparesis (3); Progressive encephalopathy and brain atrophy (2); Spastic paraplegia 30 (2); Cerebellar ataxia (1); Developmental delay, seizures and hyperactivity (1); Intellectual disability and cerebellar atrophy (1); Intellectual disability, nonsyndromic (1); Sacral agenesis (1); Schizophrenia (1); Spastic paraplegia (1); Spastic paraplegia 30 & spinocerebellar (1); Spastic paraplegia with progressive CNS involvement (1)";0.5;2,2;Heterozygous
19;24;1:10436613;TCCCGCAGATGCCCGAGCCAGTCGAAATACTAAGTGACTCTGCCGAGTGCCCTCACTCGCCTTCGAGAGATAAAGAAAGCGTTACCTCTCATTTCTCTTTGTGATTCTTGACGGTGACTCTTGTATGTAATCCTGTGGCTTAACTACTTCTCCCTCCTTGTCCAGCACTTTTCTAGCTC/-;NA;NA;NA;NA;NA;NA;47;NA;KIF1B;stop_lost;NM_015074.3:c.5286_*151del;NP_055889.2:p.Arg1763Serext*43;"Charcot-Marie-Tooth disease, type II (4); Neuroblastoma (3); Brain malformations (1); Charcot-Marie-Tooth disease 2a (1); Neural and nonneural tumours (1); Phaeochromocytoma (1)";0.4;3,2;Heterozygous
23;26;11:66034382;CTCCAGCTCCATGGACCTCTCCCGACGAAGCTCCCTGGTGGGCTAATGCTGAAGGGGCAGCCAGTCACCAGAGCGCCCACCTGGCACACCCCCCTCACCCCAGCCCTGCGCATGGGCCTGCTGCTTGTCCCGCCTGTCTCTCCCACAGCCCCTGTCTTTTCTGTTCAATCTCAGGGTAACCTTCTCCCTTGTCATCTCAGCCTGAGCCCTGGAGGCTGGGCCTGCCCA/-;NA;NA;NA;NA;NA;NA;17.9902;NA;KLC2;stop_lost;NM_001134775.1:c.1836_*194del;NP_001128247.1:p.Met612Ileext*56;Spastic paraplegia, optic atrophy, and neuropathy (1);0.4;3,2;Heterozygous
16;21;1:896690;CGCGGCCCCGGCAGGCTCGGCCCGCAGCCCCCATGGAGGGAGCCGTGCAGCTGCTGAGCCGCGAGGGCCACAGCGTGGCCCACAACTCCAAGCGGCACTACCACGATGCCTTCGTGGCCATGAGCCGCATGCGCCAG/-;NA;NA;NA;NA;NA;NA;42;NA;KLHL17;frameshift_variant;NM_198317.2:c.125_261del;NP_938073.1:p.Arg45Profs*34;Schizophrenia (1);0.6;2,3;Heterozygous
24;27;4:187171549;TCACAAAGGCGAGTATGCATGGAAAATCGCA/-;NA;NA;0.000127429;4;0;NA;24.5;NA;KLKB1;splice_donor_variant;NM_000892.4:c.758+15_758+45del;NA;"Prekallikrein deficiency (10); Hypertension in drinkers, association with (1); Hypertension, association with (1)";0.285714;5,2;Heterozygous
24;27;10:89621916;G/-;NA;NA;NA;NA;NA;NA;12.65;NA;KLLN;frameshift_variant;NM_001126049.1:c.329delC;NP_001119521.1:p.Ala110Glyfs;"Breast cancer (5); Decreased protein (3)";0.4;3,2;Heterozygous
35;26;19:36212118;AG/-;NA;NA;0.00123077;36;0;NA;27.1;NA;KMT2B;frameshift_variant;NM_014727.2:c.1869_1870delAG;NP_055542.1:p.Ala624Profs*51;"Complex dystonia, early-onset (26); Generalised dystonia, early-onset (4); Autoimmunity (1); Kleefstra-like syndrome (1)";0.375;10,6;Heterozygous
33;8;11:67934503;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;38;NA;KMT5B;stop_gained;NM_017635.4:c.1120C>T;NP_060105.3:p.Gln374Ter;NA;0.333333;4,2;Heterozygous
33;8;17:8274770;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;24.1;NA;KRBA2;stop_gained;NM_213597.3:c.83G>A;NP_998762.1:p.Trp28Ter;NA;0.4;3,2;Heterozygous
24;27;7:91864911;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;35;NA;KRIT1;stop_gained;NM_194456.1:c.535C>T;NP_919438.1:p.Arg179Ter;"Cerebral cavernous malformations (249); Cavernous angioma (2); Phenotype modifier (1); Phenotype modifier, association with (1)";0.285714;5,2;Heterozygous
17;21;12:75902053;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;KRR1;splice_donor_variant;NM_007043.6:c.258+1G>A;NA;NA;0.333333;4,2;Heterozygous
7;14;17:38976915;C/-;NA;NA;NA;NA;NA;NA;43;NA;KRT10,TMEM99;frameshift_variant;NM_000421.3:c.715delG,NM_145274.3:c.-221+1455delC;NP_000412.3:p.Glu239Argfs*4,;"Epidermolytic hyperkeratosis (24); Ichthyosis, with confetti (14); Epidermolytic ichthyosis (11); Reticular ichthyosiform erythroderma (5); Bullous erythroderma ichthyosiformis congenita (4); Epidermolytic ichthyosis, annular (2),NA";0.5;2,2;Heterozygous
33;8;12:53166663;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;33;NA;KRT76;splice_acceptor_variant;NM_015848.4:c.877-1G>A;NA;NA;0.333333;4,2;Heterozygous
34;2;12:52711747;C/A;NA;NA;0.00991519;311;1;2 of 6 Predicted as Damaging;51;Benign (1),Likely benign (1);KRT83;stop_gained;NM_002282.3:c.601G>T;NP_002273.3:p.Glu201Ter;"Monilethrix (2); Autism spectrum disorder (1); Erythrokeratoderma, progressive symmetric (1)";0.633333;11,19;Heterozygous
24;27;17:39305890;G/A;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;34;NA;KRTAP4-5;stop_gained;NM_033188.3:c.130C>T;NP_149445.3:p.Gln44Ter;NA;0.4;3,2;Heterozygous
33;8;18:7032984;T/-;NA;NA;NA;NA;NA;NA;35;NA;LAMA1;frameshift_variant;NM_005559.3:c.2162delA;NP_005550.2:p.Glu721Glyfs*77;"Poretti Boltshauser syndrome (17); Cerebellar dysplasia with cysts (10); Cerebellar ataxia (2); Cerebellar dysplasia (2); Alzheimer disease, in Amish, association with (1); High myopia, increased risk, association with (1); Intellectual disability (1); Pancreatic cancer (1); Psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness & GH deficiency (1)";0.333333;4,2;Heterozygous
30;7;9:133952596;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;41;NA;LAMC3;stop_gained;NM_006059.3:c.3652C>T;NP_006050.3:p.Gln1218Ter;"Autism (5); Bilateral occipital pachygyria (3); Autism spectrum disorder (2); Colorectal cancer (1); Epilepsy (1); Occipital pachygyria (1); Schizophrenia (1)";0.4;3,2;Heterozygous
14;19;22:33778031;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;LARGE1;splice_acceptor_variant;NM_004737.5:c.1006-1G>A;NA;NA;0.5;2,2;Heterozygous
11;17;19:11224341;A/-;NA;NA;NA;NA;NA;NA;23.1;NA;LDLR;frameshift_variant;NM_000527.4:c.1489delA;NP_000518.1:p.Thr497Leufs*10;"Hypercholesterolaemia (2000); Myocardial infarction (29); Coronary artery disease (3); Reduced LDL cholesterol levels (2); Coronary artery disease, protection against, association with (1); Hypercholesterolaemia, autosomal dominant (1); Increased plasma LDL cholesterol, association with (1); Reduced expression (1); Stroke, increased risk, association with (1)";0.5;2,2;Heterozygous
24;27;1:25890283;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;31;NA;LDLRAP1;splice_donor_variant;NM_015627.2:c.747+1G>A;NA;"Hypercholesterolaemia, autosomal recessive (16); Hypercholesterolaemia (1); Platelet volume, association with (1)";0.4;3,2;Heterozygous
28;6;7:2564880;CCGCCCACAGCCGCCAGGCGCTGTCCTGCAAGATGGCCGTGGAGTATGACCGCTTCATCGAGTCCGGCAGGAAGTGAGTGTGGCCCCGGGGGACCCCCATCTCCCTGCCCGAGCCTGGCAGCGC/-;NA;NA;NA;NA;NA;NA;52;NA;LFNG;splice_donor_variant;NM_001040167.1:c.509_581+51del;NP_001035257.1:p.?;"Asperger syndrome (1); Spondylocostal dysostosis (1)";0.5;2,2;Heterozygous
33;8;9:124976297;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;44;NA;LHX6;stop_gained;NM_014368.4:c.835C>T;NP_055183.2:p.Gln279Ter;Schizophrenia (1);0.285714;5,2;Heterozygous
24;27;13:108862716;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;LIG4;stop_gained;NM_002312.3:c.901C>T;NP_002303.2:p.Gln301Ter;"LIG4 syndrome (23); Immunodeficiency, severe combined (4); Immunodeficiency, severe combined, atypical (2); Reduced risk of multiple myeloma, association (2); Dubowitz syndrome (1); Glioma, increased risk, association with (1); Immunodeficiency, primary (1); LIG4 deficiency with dysmaturity, primordial dwarfism and neurological abnormalities (1); LIG4 deficiency with lymphoma, diffuse large B-cell (1); Microcephalic primordial dwarfism (1); Myelodysplastic syndrome (1); Squamous cell carcinoma, association with (1)";0.5;2,2;Heterozygous
35;26;20:62370232;-/CCTCCCTG;NA;NA;0.000989404;31;0;NA;22.9;NA;LIME1;frameshift_variant;NM_017806.3:c.877_884dupTCCCTGCC;NP_060276.2:p.Ter296Profs;NA;0.434783;13,10;Heterozygous
32;8;22:50945333;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;39;NA;LMF2;stop_gained;NM_033200.2:c.226C>T;NP_149977.2:p.Gln76Ter;NA;0.4;3,2;Heterozygous
35;26;12:25705804;C/T;NA;NA;0.00340786;107;0;1 of 6 Predicted as Damaging;18.15;NA;LMNTD1;splice_donor_variant;NM_001145728.2:c.89+1G>A;NA;NA;0.277778;26,10;Heterozygous
24;27;11:33886312;G/-;NA;NA;NA;NA;NA;NA;12.5;NA;LMO2;frameshift_variant;NM_005574.3:c.300delC;NP_005565.2:p.Gly101Alafs*12;NA;0.4;3,2;Heterozygous
24;27;5:96329673;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;43;NA;LNPEP;stop_gained;NM_005575.2:c.1405C>T;NP_005566.2:p.Gln469Ter;Psoriasis, increased risk, association with (1);0.4;3,2;Heterozygous
14;19;2:176802211;GTTCAAGAAAAAACAGTAGGCACATCGAAAAGCTGCAGAGAATTTTTTAAAAATAAGCAAAACCACAAACCAAGCAAA/-;NA;NA;NA;NA;NA;NA;15.9781;NA;LNPK;splice_acceptor_variant;NM_001305008.1:c.1082-46_1113del;NP_001291937.1:p.?;NA;0.5;3,3;Heterozygous
17;21;8:23179642;C/T;NA;NA;3.19E-05;1;0;2 of 6 Predicted as Damaging;29.3;NA;LOXL2;splice_donor_variant;NM_002318.2:c.1302+1G>A;NA;Intracranial aneurysm, association with (1);0.285714;5,2;Heterozygous
14;19;18:2934449;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;29.9;NA;LPIN2;splice_acceptor_variant;NM_014646.2:c.1169-1G>A;NA;"Psoriasis (5); Majeed syndrome (4); Diabetes, type 2, association with (1)";0.5;2,2;Heterozygous
17;21;6:40360006;TCTCCCG/-;NA;NA;NA;NA;NA;NA;43;NA;LRFN2;frameshift_variant;NM_020737.2:c.2040_2046delCGGGAGA;NP_065788.1:p.Arg682Leufs*101;"Epileptic encephalopathy with infantile spasms (2); Learning disability (1)";0.285714;5,2;Heterozygous
2;10;11:68216361;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;39;NA;LRP5;stop_gained;NM_002335.3:c.4671G>A;NP_002326.2:p.Trp1557Ter;"Osteoporosis-pseudoglioma syndrome (68); Exudative vitreoretinopathy (56); High bone mass trait (5); Osteopetrosis (5); Osteoporosis, primary (4); Polycystic liver disease (4); Colorectal cancer (3); Retinopathy of prematurity (3); Endosteal hyperostosis (2); Lumbar spine bone-mineral content, association with (2); Osteoporosis, association with (2); Polycystic kidney disease (2); Reduced Norrin signalling activity (2); Retinal disease (2); Higher femoral neck bone mineral density, association with (1); Lower femoral neck bone mineral density, association with (1); Lumbar spine bone mineral density, association with (1); Osteoporosis & hyperlipidaemia (1); Osteosclerosis (1); Schizophrenia (1)";0.285714;5,2;Heterozygous
8;15;12:122685203;CCAAGGTACCGGGCCTTGGTGCTGGGGAGGGCAGCCTGGCCACACCCTTGCTTCAACTTGTCCCACCCTCCTGTCCTCCCGTCGTCGCAGGAGTGGAAGGTGCTGAAGAAGAAGAAAGAGCCGC/-;NA;NA;NA;NA;NA;NA;43;NA;LRRC43;splice_acceptor_variant;NM_001098519.1:c.1621-84_1660del;NP_001091989.1:p.?;NA;0.375;5,3;Heterozygous
17;21;1:70504122;C/T;NA;NA;NA;NA;NA;3 of 6 Predicted as Damaging;23.4;NA;LRRC7;stop_gained;NM_020794.2:c.2501C>T;NP_065845.1:p.Thr834Ile;Autism spectrum disorder (1);0.285714;5,2;Heterozygous
8;15;1:151134371;-/C;NA;NA;NA;NA;NA;NA;9.438;NA;LYSMD1,TNFAIP8L2-SCNM1;frameshift_variant;NM_212551.4:c.386dupG,NM_001204848.1:c.-54-4575dupC;NP_997716.1:p.Ala130Serfs*7,;NA,NA,NA,NA;0.4;3,2;Heterozygous
9;15;1:235904721;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;33;NA;LYST;splice_donor_variant;NM_000081.3:c.8358+1G>A;NA;"Chediak-Higashi syndrome (67); Haemophagocytic lymphohistiocytosis, familial (4); Haemophagocytic lymphohistiocytosis (3); T cell deficiency, CD4 lymphopaenia, and interstitial lung disease (2); Autism spectrum disorder (1); H1N1 influenza, susceptibility to, association with (1); Recurrent fever (1)";0.285714;5,2;Heterozygous
19;24;19:497781;GGGGCGGGGTCCGGGACTCCGCGGGGCTGAGCGAGAGCCGCGGTCGCCGCAGGCCAGTCCCTCCAGGTGAAGCCCCTGCAGGTGGAGCCCCCGGAGCCGGTGGT/-;NA;NA;NA;NA;NA;NA;36;NA;MADCAM1;splice_acceptor_variant;NM_130760.2:c.53-50_106del;NP_570116.2:p.?;NA;0.75;1,3;Heterozygous
17;21;10:19896734;G/-;NA;NA;NA;NA;NA;NA;3.375;NA;MALRD1;frameshift_variant;NM_001142308.2:c.5974delG;NP_001135780.2:p.Val1992Cysfs*36;NA;0.333333;4,2;Heterozygous
30;7;17:43351562;ACAGGGCCCGGTCCTCTGGGAGACAGCCCTGCTCCTTGACCAGCTGGCCCAGGGAGCCACCTAGGAGACCAAAGGCCAGGCTATACATGGGACTTGCCCGAGCCTCCATGCCAGCCAAGGGCAAGAGC/-;NA;NA;NA;NA;NA;NA;26.4;NA;MAP3K14;splice_acceptor_variant;NM_003954.4:c.1418-68_1477del;NP_003945.2:p.?;Immunodeficiency, primary (1);0.5;2,2;Heterozygous
19;24;6:137041573;AAACAAGGGAGGTACCTTCAGTGACTGCAGAGAGTCCGAGTTAGTATCACAGTAGAGGATGATGTTGTTGGCCATGCTGAAACTTTCTCTCACCCCAAGGTGGTA/-;NA;NA;NA;NA;NA;NA;24.1379;NA;MAP3K5;splice_donor_variant;NM_005923.3:c.499_588+15del;NP_005914.1:p.?;NA;0.5;2,2;Heterozygous
8;15;11:119182908;GGGCAGGGTGGGGCCAGTTCCCTATTGCCCCAGCCTGGTCCCCCTGTCCTGGGTCCCCAGCCCCTCACAGTTCACCAGTAGTTCCTGTGGTTCACTCAGCAGCGATATCATGGTGTCCAAGTCCAGGCCCTGACATTCATAGCGCCCACTGTGTTCCTTCC/-;NA;NA;NA;NA;NA;NA;37;NA;MCAM;splice_donor_variant;NM_006500.2:c.932_1024+68del;NP_006491.2:p.?;NA;0.571429;3,4;Heterozygous
25;3;6:52133904;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;45;NA;MCM3;stop_gained;NM_002388.4:c.2083C>T;NP_002379.3:p.Gln695Ter;NA;0.4;3,2;Heterozygous
9;15;6:30673015;ATTTGTCCTGCTCCTAGTGGTCCGAGATGTGGGCTTGGGGGTGACAGGTCGGTCTGTGGAGGTGGAAGGCCGGAGCTCAGGGGCTGTGGGCACAACTGGTTCAGGGGTCTTGACA/-;NA;NA;NA;NA;NA;NA;37;NA;MDC1;frameshift_variant;NM_014641.2:c.3831_3945del;NP_055456.2:p.Val1278Cysfs*45;NA,Lung cancer, increased risk, association with (1);0.333333;4,2;Heterozygous
32;8;14:24683254;AAGGCTGGACCTCA/-;NA;NA;NA;NA;NA;NA;35;NA;MDP1,NEDD8-MDP1;stop_lost;NM_138476.3:c.494_507delTGAGGTCCAGCCTT,NM_001199823.2:c.545_558delTGAGGTCCAGCCTT;NP_612485.2:p.Leu165Terfs,NP_001186752.1:p.Leu182Terfs;NA,NA;0.285714;5,2;Heterozygous
30;7;14:71051533;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;10.51;NA;MED6;splice_donor_variant;NM_001284211.1:c.737+1G>A;NA;NA;0.5;2,2;Heterozygous
9;15;7:15725472;CCCGGCGCGCACTCTCGAGGGTGCCTGGCGCGCCCTTACCTGAGCTGTCGCTTTTCCTCTTGCCGCCGCTTCGCTTCTCCGCCTCCGCAGGTGACAGTGCCTGGCGGCCGTAGTCC/-;NA;NA;NA;NA;NA;NA;50;NA;MEOX2;splice_donor_variant;NM_005924.4:c.441_517+39del;NP_005915.2:p.?;Alzheimer disease, early-onset (1);0.5;2,2;Heterozygous
8;15;20:10385809;GGAGAAAACAAATACACTCACAATTTTTCTCAATTGCCAACAGACTAGTTTATTTGTTTCTCTTGTAATACGAACATGCTATTCTCTTAGTTTTTATCTTCAATAACATATGAAAGATCCAAAATCAAATT/-;NA;NA;NA;NA;NA;NA;44;NA;MKKS;stop_lost;NM_018848.3:c.1669_*86del;NP_061336.1:p.Asn557Glnext*22;"Bardet-Biedl syndrome (96); McKusick-Kaufman syndrome (4); Nephronophthisis-related ciliopathy (2); Obesity, association with (1); Phenotype modifier (1); Retinitis pigmentosa & polydactyly (1)";0.4;6,4;Heterozygous
30;7;7:4947047;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;53;NA;MMD2;stop_gained;NM_001100600.1:c.793C>T;NP_001094070.1:p.Gln265Ter;NA;0.5;2,2;Heterozygous
9;15;11:102667464;G/A;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;35;NA;MMP1;stop_gained;NM_002421.3:c.556C>T;NP_002412.1:p.Gln186Ter;"NA,Breast cancer (1); Bronchopulmonary dysplasia, in preterm newborns (1); Lower body mass index, association with (1); Preterm premature rupture of membranes, protection, association (1); Rheumatoid arthritis, association with (1); Thoracic aortic aneurysm, smaller diameter (1)";0.5;2,2;Heterozygous
9;15;16:3100061;TGCTGGGGGTGGCGGGGCTGGTCAGGCGGCGTCGCCGGTACGCTCTGAGCGGCAGCGTGTGGAAGAAGCGAACCCTGACATGGAGGTAGGTCCTGGGGCCCACCCGCACCCTGGCCCTGCC/-;NA;NA;NA;NA;NA;NA;44;NA;MMP25;splice_donor_variant;NM_022468.4:c.291_368+43del;NP_071913.1:p.?;NA,NA,NA;0.5;2,2;Heterozygous
25;3;11:102393970;C/G;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;MMP7;splice_donor_variant;NM_002423.4:c.775+1G>C;NA;"Smaller reference luminal diameter, association (2); Breast cancer, reduced risk, association with (1); Liver cirrhosis, association with (1)";0.5;2,2;Heterozygous
23;26;2:74692196;CGCCCCGACATACCCAGGGCCAAAGACAGGACCACGACGGCCAGAGCCACTCCTCCAGCCGTGCTACGCGGCCCGCCGCCCCGGCCGTCCCGTCGCCCGGGGCCTCCCCGAGCCGCCCTCTCGGCTGTCCGCACTCCCTCTGCCGGCACTGCGCGGCGCCGCCGCT/-;NA;NA;NA;NA;NA;NA;35;NA;MOGS;frameshift_variant;NM_006302.2:c.14_179del;NP_006293.2:p.Glu5Alafs*48;"Congenital disorder of glycosylation (3); Glucosidase 1 deficiency (2)";0.428571;4,3;Heterozygous
24;27;4:78815297;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;MRPL1;stop_gained;NM_020236.3:c.563G>A;NP_064621.3:p.Trp188Ter;NA;0.285714;5,2;Heterozygous
34;2;7:42977137;C/T;NA;NA;0.00146525;46;0;2 of 6 Predicted as Damaging;44;NA;MRPL32;stop_gained;NM_031903.2:c.529C>T;NP_114109.1:p.Arg177Ter;NA;0.5;13,13;Heterozygous
33;8;11:60271173;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;23.6;NA;MS4A12;splice_acceptor_variant;NM_017716.2:c.472-1G>A;NA;NA;0.4;3,2;Heterozygous
14;19;2:48010478;GCTGCCCCCGGGGCCTCTCCTTCCCCAGGCGGGGATGCGGCCTGGAGCGAGGCTGGGCCTGGGCCCAGGCCCTTGGCGCGCTCCGCGTCACCGCCCAAGGCGAAGAACCTCAACGGAGGGCTGCGGAGATCGGTAGCGCCT/-;NA;NA;NA;NA;NA;NA;15.6286;NA;MSH6;splice_donor_variant;NM_000179.2:c.106_246del;NP_000170.1:p.Gly39_Pro85del;"Colorectal cancer, non-polyposis (200); Colorectal cancer (109); Endometrial cancer (38); Lynch syndrome (18); Colorectal cancer, early onset (12); Ovarian cancer (12); Multiple colorectal adenoma (8); Colorectal / endometrial cancer (6); Constitutional mismatch repair deficiency syndrome (6); Colon cancer (5); Cancer (4); Muir-Torre syndrome (4); Breast cancer (3); Breast cancer predisposition (3); Colorectal cancer, association with (2); Neurofibromatosis, type 1 (2); Pancreatic cancer (2); Thyroid cancer, non-medullary (2); Bladder and colorectal cancer (1); Breast and colorectal cancer (1); Breast and endometrial cancer (1); Breast and lobular breast cancer (1); Breast and/or ovarian cancer (1); Cafe-au-lait, oligodendroglioma, rectal cancer (1); Cancer, hereditary (1); Colon cancer and colon polyps (1); Colon cancer, breast cancer, leukaemia (1); Cone-rod dystrophy (1); Endometrial cancer and borderline ovarian tumour (1); Endometrial cancer and colon polyps (1); Glioblastoma (1); Impaired DNA repair (1); Mismatch repair defect (1); MMR deficiency (1); Multiple adenomas (1); Multiple gastro-intestinal malignancies (1); Prostate cancer (1); Renal cancer, sarcoma, and primitive neuroectodermal tumour (1); T-cell acute lymphoblastic lymphoma (1); Turcot syndrome (1)";0.75;1,3;Heterozygous
34;2;8:16012594;G/A;NA;NA;0.00784789;246;1;1 of 6 Predicted as Damaging;39;Pathogenic(1),Uncertain Significance(1);MSR1;stop_gained;NM_138715.2:c.877C>T;NP_619729.1:p.Arg293Ter;"Prostate cancer (14); Barrett oesophagus/oesophageal adenocarcinoma (1); Breast cancer (1); Chronic obstructive pulmonary disease, in smokers, association with (1); Prostate cancer, association with (1)";0.478261;12,11;Heterozygous
33;8;8:98731415;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;48;NA;MTDH;stop_gained;NM_178812.3:c.1519C>T;NP_848927.2:p.Gln507Ter;NA;0.285714;5,2;Heterozygous
2;10;1:149905502;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;33;NA;MTMR11;splice_donor_variant;NM_001145862.1:c.860+1G>A;NA;NA,NA,NA;0.4;3,2;Heterozygous
24;27;13:41834671;C/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;38;NA;MTRF1;stop_gained;NM_004294.2:c.373G>T;NP_004285.2:p.Glu125Ter;NA;0.4;3,2;Heterozygous
34;2;12:40791701;C/T;NA;NA;0.00507955;159;0;NA;6.836;NA;MUC19;stop_gained;NM_173600.2:c.73C>T;NP_775871.2:p.Arg25Ter;NA;0.676471;11,23;Heterozygous
19;24;6:30994995;CCACAGTCTCTACCACAGGCTCTGAGACCAC/-;NA;NA;NA;NA;NA;NA;36;NA;MUC22;frameshift_variant;NM_001318484.1:c.1797_1827del;NP_001305413.1:p.Thr600Glnfs*69;NA,NA;0.4;3,2;Heterozygous
14;19;13:77838063;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;33;NA;MYCBP2;splice_donor_variant;NM_015057.4:c.1431+1G>A;NA;"Autism (1); High myopia-excavated optic disc anomaly (1)";0.4;3,2;Heterozygous
24;27;15:48450423;T/C;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;33;NA;MYEF2;splice_acceptor_variant;NM_016132.4:c.872-2A>G;NA;Autism spectrum disorder (1);0.4;3,2;Heterozygous
8;15;19:50794214;AGCTGGAGGGAGAGCTGGAGGAGCTGAAGGCTCAGATGGCCTCTGCCGGCCAGGGCAAGGAGGAGGCGGTGAAGCAGCTTCGCAAGATGCAGGTAAGAGCCGGCGTG/-;NA;NA;NA;NA;NA;NA;52;NA;MYH14;splice_donor_variant;NM_024729.3:c.4918_5004+20del;NP_079005.3:p.?;"Hearing impairment (6); Hearing loss (5); Hearing loss, non-syndromic, autosomal dominant (4); Sensorineural hearing loss (4); Arthrogryposis (2); Deafness (2); Hearing loss, non-syndromic (2); Autism spectrum disorder (1); Autosomal dominant non-syndromic hearing loss (1); Deafness, childhood, severe (1); Deafness, congenital, mild (1); Peripheral neuropathy, myopathy, and hearing loss (1)";0.714286;2,5;Heterozygous
24;27;17:10542614;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;MYH3;splice_donor_variant;NM_002470.3:c.3102+1G>A;NA;"Arthrogryposis, distal, type 2B (9); Arthrogryposis, distal, type 2A (7); Distal arthrogryposis syndrome 2b (4); Arthrogryposis, distal, type 1 (3); Pterygium syndrome (3); Arthrogryposis, distal 2B & myosin myopathy (2); Spondylocarpotarsal synostosis syndrome (2); Arthrogryposis multiplex congenita with axoglial defects (1); Arthrogryposis, distal (1); Cleft lip and/or palate (1)";0.6;2,3;Heterozygous
24;27;17:10307757;G/A;NA;NA;3.19E-05;1;0;1 of 6 Predicted as Damaging;35;NA;MYH8;stop_gained;NM_002472.2:c.2578C>T;NP_002463.2:p.Gln860Ter;NA,Trismus-pseudocamptodactyly syndrome (1);0.4;3,2;Heterozygous
24;27;5:16670634;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;32;NA;MYO10;splice_donor_variant;NM_012334.2:c.5883+1G>A;NA;Obsessive-compulsive disorder (1);0.5;2,2;Heterozygous
33;8;17:18054189;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;41;NA;MYO15A;stop_gained;NM_016239.3:c.7435C>T;NP_057323.3:p.Gln2479Ter;"Deafness, non-syndromic, autosomal recessive (80); Hearing loss (48); Hearing loss, non-syndromic (21); Hearing loss, autosomal recessive (19); Deafness (12); Deafness, non-syndromic (11); Hearing loss, non-syndromic, autosomal recessive (7); Hearing loss, non-syndromic sensorineural (6); Hearing loss, sensorineural (4); Deafness, congenital, severe (2); Retinitis pigmentosa (1); Sensorineural deafness in SMS (1); Sensorineural hearing loss, prelingual (1)";0.285714;5,2;Heterozygous
33;8;2:128388912;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;42;NA;MYO7B;stop_gained;NM_001080527.1:c.4991G>A;NP_001073996.1:p.Trp1664Ter;Autism (1);0.285714;5,2;Heterozygous
30;7;12:7922712;A/-;NA;NA;NA;NA;NA;NA;17.03;NA;NANOGNB;frameshift_variant;NM_001145465.1:c.242delA;NP_001138937.1:p.Asn81Thrfs*28;NA;0.6;2,3;Heterozygous
17;21;9:100819126;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;42;NA;NANS;stop_gained;NM_018946.3:c.36G>A;NP_061819.2:p.Trp12Ter;"Developmental delay & skeletal dysplasia, infantile-onset (10); Intellectual disability (1); Sialic acid biosynthesis (1)";0.333333;4,2;Heterozygous
35;26;8:144660021;G/A;NA;NA;0.0001595;5;0;1 of 6 Predicted as Damaging;45;NA;NAPRT;stop_gained;NM_145201.5:c.319C>T;NP_660202.3:p.Arg107Ter;NA;0.425532;27,20;Heterozygous
22;26;13:111287871;AGCCCTGGGCAACGTGACGGTGGTCCAGAAAGGAGAGCGCGACATCCTCTCCAACGGCCAGCAGGGTGAGTGGCGGCTGCCCTCTGTGCATGGGCCAGTGCCAGGTCAGTCAGCATGGCCACACCGAGCATG/-;NA;NA;NA;NA;NA;NA;10.1149;NA;NAXD;splice_donor_variant;NM_018210.3:c.716_772+75del;NP_060680.2:p.?;NA;0.5;2,2;Heterozygous
14;19;9:100409844;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;NCBP1;splice_donor_variant;NM_002486.4:c.681+1G>A;NA;NA;0.4;3,2;Heterozygous
24;27;8:71036922;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;33;NA;NCOA2;splice_donor_variant;NM_006540.3:c.4094+1G>A;NA;NA;0.333333;4,2;Heterozygous
16;21;6:126210130;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;39;NA;NCOA7;stop_gained;NM_181782.4:c.930G>A;NP_861447.3:p.Trp310Ter;NA;0.5;2,2;Heterozygous
16;21;16:58541667;CCTGGGGTGCCCACCTCTGCCTCTGCCCCTCCCCCTGCCCCACAGCCGCAGAGACCTGGACATTAACCGGCCTGGAACGGTGCCCAATGCCAAGACGCTCCGGTGAGTGGCCCCTGGCCCTCTGGCCTGC/-;NA;NA;NA;NA;NA;NA;42;NA;NDRG4;frameshift_variant;NM_001130487.1:c.777-45_833+28del;NP_001123959.1:p.Ser259Argfs*16;Myofibromatosis, infantile (1);0.75;1,3;Heterozygous
2;10;5:60368954;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;38;NA;NDUFAF2;stop_gained;NM_174889.4:c.130C>T;NP_777549.1:p.Gln44Ter;"Mitochondrial complex I deficiency (5); Complex I deficiency (2); Mitochondrial encephalomyopathy with dysmorphism & hepatopathy (1)";0.285714;5,2;Heterozygous
7;14;2:152486152;G/C;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;NEB;stop_gained;NM_001271208.1:c.9732C>G;NP_001258137.1:p.Tyr3244Ter;"Nemaline myopathy (240); Core-rod myopathy (6); Congenital myopathy (5); Arthrogryposis multiplex congenita with axoglial defects (2); Cardiomyopathy, hypertrophic (2); Cone-rod myopathy (2); Muscle weakness, early-childhood-onset, intellectual disability & epilepsy (2); Schizophrenia (2); Autism spectrum disorder (1); Fetal akinesia (1); Stress fracture, association with (1)";0.4;3,2;Heterozygous
33;8;3:110790885;-/T;NA;NA;NA;NA;NA;NA;24.5;NA;NECTIN3;frameshift_variant;NM_015480.2:c.20_21insT;NP_056295.1:p.Ser8Valfs*74;NA;0.333333;4,2;Heterozygous
9;15;4:170523697;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;NEK1;stop_gained;NM_012224.2:c.85C>T;NP_036356.1:p.Gln29Ter;"Short rib-polydactyly syndrome, Majewski type (7); Jeune asphyxiating thoracic dystrophy (2); Oral-facial-digital syndrome type II (2); Short rib-polydactyly syndrome, Verma-Naumoff (1)";0.333333;4,2;Heterozygous
33;8;11:20691325;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;28.6;NA;NELL1;splice_donor_variant;NM_001288713.1:c.55+1G>A;NA;"Crohn disease, association with (3); Dravet syndrome (1); Short stature, relative macrocephaly, and delayed closure of fontanelles (1)";0.285714;5,2;Heterozygous
32;8;15:23086199;CCCGCCCGCCGCCTGCCGCCTGCCGCCCGCCCTACCTCGCCGCTTGGCACGCACGATGCCCTTCTTCTGTAGCACGAACGTGGACCCGTTCACCAGGCTCGACACGACGGCCACGCCCAGGCCGAGCGACACGGCGGCGGGGCTCGGGCTACGCGCCCCCTC/-;NA;NA;NA;NA;NA;NA;19.9443;NA;NIPA1;splice_donor_variant;NM_144599.4:c.52_178+35del;NP_653200.2:p.?;"NA,NA,NA,NA,Amyotrophic lateral sclerosis (6); Spastic paraplegia, autosomal dominant (5); Autism spectrum disorder (2); Amyotrophic lateral sclerosis, susceptibility to, association with (1); Angelman syndrome (1); West syndrome (1)";0.5;2,2;Heterozygous
32;8;5:37061101;TAGTAAAACAGTATCTAGATGTGAG/-;NA;NA;NA;NA;NA;NA;47;NA;NIPBL;splice_donor_variant;NM_133433.3:c.7850_7860+14del;NP_597677.2:p.?;"Cornelia de Lange syndrome (391); Mental retardation, developmental delay & neurobehavioural abnormalities (4); 5p13 microduplication syndrome (1); Atrioventricular canal defect (1); Atrioventricular septum defect (1); Atrioventricular septum defect, intermediate (1); Atrioventricular septum defect, partial (1); Atrioventricular septum defect, unbalanced (1); Autism spectrum disorder (1); Coffin-Siris syndrome (1); Heterotaxy (1); Schizophrenia (1); Upper limb anomalies (1)";0.5;2,2;Heterozygous
24;27;2:32449625;G/A;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;40;NA;NLRC4;stop_gained;NM_021209.4:c.2992C>T;NP_067032.3:p.Gln998Ter;"Sepsis, modifier of (2); Autoinflammation with infantile enterocolitis (1); Autoinflammation with recurrent macrophage activation syndrome (1); Cutaneous erythematous nodes, urticarial rash, arthralgias and late-onset enterocolitis (1); Decreased expression (1); Enterocolitis & autoinflammation (1); Familial cold autoinflammatory syndrome (1)";0.5;2,2;Heterozygous
25;3;11:280460;GAGGCCGGGCACGCGCAGCCTGGCTGACCTGATCCTGGACCAGTGCCCCGACCGCGGCGCGCCGGTGCCGCAGATGCTGGCCCAGCCGCAGCGGCTGCTCTTCATCCTGGACGGCGCGGACGAGCTGCCGGCGCTGGGGGGCCCC/-;NA;NA;NA;NA;NA;NA;39;NA;NLRP6;frameshift_variant;NM_138329.2:c.726_870del;NP_612202.2:p.Gly245Argfs*16;NA;0.666667;2,4;Heterozygous
9;15;16:50757236;-/C;NA;NA;NA;NA;NA;NA;25.5;NA;NOD2;frameshift_variant;NM_022162.2:c.2822_2823insC;NP_071445.1:p.Val942Cysfs*29;"Crohn's disease, susceptibility to, association (33); Blau syndrome (17); Crohn's disease, susceptibility to (15); Sarcoidosis, early onset (7); Crohn's disease (6); Granulomatous arthritis, paediatric (5); Crohn's disease, susceptibility to, association with (4); Synovitis, granulomatous, with uveitis (3); Colorectal cancer, association with (2); Blau arteritis (1); Gastric cancer, association with (1); Ulcerative colitis, early=onset (1)";0.4;3,2;Heterozygous
8;15;9:33463440;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;32;NA;NOL6;splice_acceptor_variant;NM_022917.4:c.2995-1G>A;NA;NA;0.285714;5,2;Heterozygous
26;4;4:2964825;CCGGCTCCCCGTGCGCCCCCCGCTTACCTTCCTGAGGGCCCGTGCGCGAGACACCCCGGGCAGTCCCACGTCGTGGCGCGTCTTCCGGCCCAGGATCTGGAACTTCTGCCTGTTAACTTTCACCTCGAACGGATTGGAGTTGGCCTTCGCCGGGCCCCCTCGCGCTCCCG/-;NA;NA;NA;NA;NA;NA;40;NA;NOP14;splice_donor_variant;NM_003703.2:c.53_195+27del;NP_003694.1:p.?;NA;0.5;3,3;Heterozygous
17;21;17:79917467;CCCGCGCGCACAGACCCCCGGCCTCCCCCCGCCTCAGCCCTGGACGCACCTTCCAGGAAGAGGAGCCACCGCCGGCTGCCCCTGGACTCCTTCAGGTAGTAGCTGCGGGGGAGGACGCACCGCGGGGGGTCGGCCAGGGCTGCCGACCCGCCGCGC/-;NA;NA;NA;NA;NA;NA;17.0666;NA;NOTUM;frameshift_variant;NM_178493.5:c.324-54_376+49del;NP_848588.3:p.Tyr109Argfs*60;NA;0.5;3,3;Heterozygous
24;27;11:89225388;C/T;NA;NA;NA;NA;NA;NA;0.674;NA;NOX4;splice_acceptor_variant;NM_001143837.1:c.-114-1G>A;NA;"NA (NA); Disease/phenotype (Number of mutations)";0.6;2,3;Heterozygous
17;21;9:140325293;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;38;NA;NOXA1;stop_gained;NM_006647.1:c.670C>T;NP_006638.1:p.Gln224Ter;NA;0.333333;4,2;Heterozygous
28;6;5:32783064;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;41;NA;NPR3;stop_gained;NM_001204375.1:c.1356G>A;NP_001191304.1:p.Trp452Ter;"Reduced protein expression (5); Lower ANP in obese hypertensives, association (1)";0.5;2,2;Heterozygous
16;21;16:150309;CAGGCAGAAGCTAAAGGGAAGGGCCCTGGCAGGGAGTGAGCACGTGGGGCTGGGCACTTACCGGATGGCTTTCAGGCTCCGTTCGATGGCCTCTGGGGGGATCAGACTGGAGGCCGCATAGTGGATCTTGTGGGG/-;NA;NA;NA;NA;NA;NA;12.9572;NA;NPRL3;splice_donor_variant;NM_001077350.2:c.694_767+61del;NP_001070818.1:p.?;"Cortical dysplasia (3); Focal epilepsy (3); Focal epilepsy & focal cortical dysplasia (2); Epilepsy, nocturnal frontal lobe (1); Mean corpuscular haemoglobin concentration, association with (1)";0.75;1,3;Heterozygous
33;8;19:17346623;GCCGCGCCGCCAGCTCGCACACGTTGTCGATGCCCAGCACCGCGCCC/-;NA;NA;NA;NA;NA;NA;42;NA;NR2F6;frameshift_variant;NM_005234.3:c.579_625del;NP_005225.2:p.Gly194Alafs*116;NA;0.333333;4,2;Heterozygous
23;26;5:176562519;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;35;NA;NSD1;stop_gained;NM_022455.4:c.415C>T;NP_071900.2:p.Gln139Ter;"Sotos syndrome (425); Growth retardation and microcephaly (6); Short stature, microcephaly, learning/intellectual disability & facial features (5); Microcephaly, short stature & developmental delay (3); Weaver syndrome (3); Atrioventricular septum defect (2); Autism spectrum disorder (2); Beckwith-Wiedemann syndrome (2); Short stature & microcephaly (2); Sotos-like syndrome (2); Facial dysmorphism & psychomotor delay (1); Gigantism (1); Intellectual disability (1); Mental retardation, short stature & facial dysmorphism (1); Schizophrenia (1); Silver-Russell syndrome (1); Sotos syndrome with hyperinsulinaemic hypoglycaemia (1); Sotos syndrome with hyperinsulinaemic hypoglycaemia of infancy (1); Sotos syndrome with subpleural blebs & pneumothorax (1); Sotos syndrome without overgrowth, with renal agenesis (1); Sotos syndrome, reversed (1); Tricuspid atresia (1)";0.5;2,2;Heterozygous
2;10;17:44788437;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;40;NA;NSF;stop_gained;NM_006178.3:c.1579C>T;NP_006169.2:p.Gln527Ter;NA,NA,NA,NA;0.285714;5,2;Heterozygous
9;15;9:87425494;G/C;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;15.81;NA;NTRK2;stop_lost;NM_006180.4:c.1397-50461G>C;NA;"Nicotine dependence risk, association with (2); Anxiety-related traits, association with (1); Obesity, hyperphagia, and developmental delay (1)";0.4;3,2;Heterozygous
2;10;17:7760574;C/T;NA;NA;0.00738208;231;2;2 of 6 Predicted as Damaging;39;NA;NAA38;stop_gained;NM_032356.5:c.168G>A;NP_115732.2:p.Trp56Ter;NA;0.555556;4,5;Heterozygous
33;8;12:121476606;G/A;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;35;NA;OASL;stop_gained;NM_003733.3:c.169C>T;NP_003724.1:p.Gln57Ter;NA;0.4;3,2;Heterozygous
9;15;19:2273027;CCCCTTGTCCCCAAGAGACCCGACGCTTGCTTCATGGCCTACACGTTCGAGAGAGAGTCTTCGGGAGAGGAGGAGGAGTAGGGCCGCCTCGGGGCTGGGCATCCGGCCCCTGGGGCCA/-;NA;NA;NA;NA;NA;NA;53;NA;OAZ1;stop_lost;NM_004152.3:c.617_*46del;NA;Coronary heart disease, association with (1);0.666667;2,4;Heterozygous
17;21;1:228559426;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;44;NA;OBSCN;stop_gained;NM_001271223.2:c.23818C>T;NP_001258152.2:p.Gln7940Ter;"Cardiomyopathy, dilated (3); Breast cancer (2); Cardiomyopathy, hypertrophic (1); Glioblastoma (1); Schizophrenia (1)";0.4;3,2;Heterozygous
32;8;17:80361734;CCACGTGCGCACTCACCGTGCCCACGGGCACGCTCACCTTGTCCACGGGCACGCTCACCCTGCCCACGGGCGCGCTCACCTTGT/-;NA;NA;NA;NA;NA;NA;5.4221;NA;OGFOD3;splice_donor_variant;NM_175902.4:c.695_699+79del;NP_787098.3:p.?;NA;0.714286;2,5;Heterozygous
25;3;9:138011893;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;46;NA;OLFM1;stop_gained;NM_001282611.1:c.1327C>T;NP_001269540.1:p.Gln443Ter;Gilles de la Tourette syndrome (1);0.5;2,2;Heterozygous
24;27;11:55735036;A/C;NA;NA;NA;NA;NA;0 of 6 Predicted as Damaging;1.39;NA;OR10AG1;stop_lost;NM_001005491.1:c.904T>G;NP_001005491.1:p.Ter302Glyext*?;NA;0.5;2,2;Heterozygous
2;10;11:57996316;G/-;NA;NA;0.000222887;7;0;NA;21.7;NA;OR10Q1;frameshift_variant;NM_001004471.2:c.32delC;NP_001004471.1:p.Ser11Leufs*30;NA;0.555556;4,5;Heterozygous
24;27;11:59480659;G/-;NA;NA;NA;NA;NA;NA;17.95;NA;OR10V1;frameshift_variant;NM_001005324.1:c.660delC;NP_001005324.1:p.Phe221Serfs*4;Autism spectrum disorder (1);0.4;3,2;Heterozygous
30;7;6:29394521;G/A;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;36;NA;OR11A1;stop_gained;NM_013937.3:c.898C>T;NP_039225.1:p.Gln300Ter;NA;0.4;3,2;Heterozygous
33;8;11:48238436;C/A;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;35;NA;OR4B1;stop_gained;NM_001005470.1:c.75C>A;NP_001005470.1:p.Cys25Ter;NA;0.4;3,2;Heterozygous
14;19;14:20502857;G/A;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;35;NA;OR4K13;stop_gained;NM_001004714.1:c.61C>T;NP_001004714.1:p.Gln21Ter;NA;0.5;2,2;Heterozygous
24;27;11:5410956;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;37;NA;OR51B5,OR51M1;stop_gained;NM_001005567.2:c.-359-42816G>A,NM_001004756.2:c.328C>T;,NP_001004756.2:p.Gln110Ter;NA,NA;0.4;3,2;Heterozygous
8;15;11:55762044;-/C;NA;NA;NA;NA;NA;NA;11.97;NA;OR5F1;frameshift_variant;NM_003697.1:c.58_59insG;NP_003688.1:p.Thr20Serfs*46;NA;0.5;2,2;Heterozygous
8;15;11:123676572;TGTCACTACAATGGTTGGAAACAACACAGACAGGAAGGCTCCCACCCAGCATCCCAGAACCAGCAGAAGGCAGGCCCTGCTGTTCATGATGACCGTGTAGTGCAGTGGGTCGCAGATAGCCA/-;NA;NA;NA;NA;NA;NA;37;NA;OR6M1;frameshift_variant;NM_001005325.1:c.365_486del;NP_001005325.1:p.Met122Lysfs*6;NA;0.5;3,3;Heterozygous
34;2;14:21109769;C/A;NA;NA;9.55E-05;3;0;1 of 6 Predicted as Damaging;37;NA;OR6S1;stop_gained;NM_001001968.1:c.82G>T;NP_001001968.1:p.Glu28Ter;NA;0.52;12,13;Heterozygous
30;7;11:124310921;GTTGGTCAGTTAAGCCTGCGAGGATAAACTGTGTCACGAAGGAGGAATTCTCAGCAGCCATTGTCATTTAAGGCATTCTGTGGGGACAAGGGAAAAAGTTATTTAGAGAGAGAGAGAGACCACTGCTGCCCTCCCA/-;NA;NA;NA;NA;NA;NA;35;NA;OR8B8;frameshift_variant;NM_012378.1:c.1_61del;NA;NA;0.666667;2,4;Heterozygous
30;7;12:122078925;CATCCTGCCTGTCCCCCCGCAGGTGGCAATGGTGGAGGTGCAGCTGGACGCTGACCACGACTACCCACCGGGGCTGCTCATCGCCTTCAGTGCCTGCACCACAGTGCTGGTGGCTGTGCACCTGTTTGCGCTCATGATCAGCACCTG/-;NA;NA;NA;NA;NA;NA;19.0858;NA;ORAI1;splice_acceptor_variant;NM_032790.3:c.310-22_434del;NP_116179.2:p.?;"Severe combined immune deficiency syndrome (5); Tubular aggregate myopathy (2); Atopic dermatitis, association with (1); Kawasaki disease, association with (1); Severe combined immune deficiency syndrome and residual T-cell function (1); Tubular myopathy & miosis (1)";0.3;7,3;Heterozygous
16;21;22:31137304;CGCCCTGGAGCTGGCCAAGGCCAAGGCTGTCCGCGTGATGAACACTCATTCAGGTAGTGAGCACTTGGGACAGCGGGTGTGTATATGGTGGTGTCATGAGTCTGGAGGAAGTGGGAATTGCAAGCCACTGGTGGGCAGTGGTGGCCAGGAGACCCAGGCCAGCGTGGATCAA/-;NA;NA;NA;NA;NA;NA;40;NA;OSBP2;splice_donor_variant;NM_030758.3:c.801_853+119del;NP_110385.1:p.?;NA;0.5;2,2;Heterozygous
30;7;3:31703598;C/T;NA;NA;3.19E-05;1;0;2 of 6 Predicted as Damaging;43;NA;OSBPL10;stop_gained;NM_017784.4:c.2261G>A;NP_060254.2:p.Trp754Ter;NA;0.5;2,2;Heterozygous
34;2;1:36893930;C/T;NA;NA;0.00507339;159;0;0 of 6 Predicted as Damaging;3.576;NA;OSCP1;stop_gained;NM_001330493.1:c.546+3473G>A;NA;NA;0.59375;13,19;Heterozygous
24;27;4:146065154;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;25.6;NA;OTUD4;splice_acceptor_variant;NM_001102653.1:c.1352-1G>A;NA;"Autism spectrum disorder (1); Hypogonadotropic hypogonadism, ataxia & dementia (1)";0.5;2,2;Heterozygous
23;26;17:3593841;TGCCAGGAGCCTCCCACTCCGAGTCCTCCTTCAGCCCGTGGCCGCTCCAGGCCCTCACCGTTTCCAGCTGTAACCGCTTCCCCAGCGTGGCAGTCGCTGTCCTTGGAGCACGCGCCATCAGGAATGCCTTCATTC/-;NA;NA;NA;NA;NA;NA;12.0162;NA;P2RX5;frameshift_variant;NM_002561.3:c.361-1_436+58del;NP_002552.2:p.Asn121Glufs*2;NA,Allogenic cytotoxic T lymphocyte response (1);0.571429;3,4;Heterozygous
34;2;20:3870080;-/G;NA;NA;NA;NA;NA;NA;27.3;NA;PANK2;frameshift_variant;NM_153638.3:c.338dupG;NP_705902.2:p.Leu115Alafs*66;"Pantothenate kinase-associated neurodegeneration (131); Neurodegeneration with brain iron accumulation (7); HARP syndrome (4); Pantothenate kinase-associated neurodegeneration, atypical (2); Dystonia, jaw-opening (1); Dystonia, sudden-onset (1); Retinal telangiectasis (1); Retinitis pigmentosa, autosomal recessive (1)";0.586207;12,17;Heterozygous
33;8;4:108641276;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;52;NA;PAPSS1;stop_gained;NM_005443.4:c.60G>A;NP_005434.4:p.Trp20Ter;NA;0.333333;4,2;Heterozygous
17;21;1:156216548;C/T;NA;NA;NA;NA;NA;NA;25.2;NA;PAQR6;splice_acceptor_variant;NM_024897.3:c.-478-1G>A;NA;NA,NA,NA;0.333333;4,2;Heterozygous
25;3;6:52268292;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;PAQR8;stop_gained;NM_133367.4:c.281G>A;NP_588608.1:p.Trp94Ter;Schizophrenia (1);0.5;2,2;Heterozygous
24;27;3:122423596;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;26.1;NA;PARP14;splice_donor_variant;NM_017554.2:c.3540+1G>A;NA;NA;0.5;2,2;Heterozygous
33;8;10:70048269;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;38;NA;PBLD;stop_gained;NM_022129.3:c.662G>A;NP_071412.2:p.Trp221Ter;NA;0.5;2,2;Heterozygous
30;7;1:154919901;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;PBXIP1;stop_gained;NM_020524.3:c.862C>T;NP_065385.2:p.Gln288Ter;NA,NA,NA;0.285714;5,2;Heterozygous
33;8;4:30723686;G/-;NA;NA;NA;NA;NA;NA;13.69;NA;PCDH7;frameshift_variant;NM_001173523.1:c.642delG;NP_001166994.1:p.Ser215Alafs*46;"Autism spectrum disorder (1); Epilepsy (1)";0.333333;4,2;Heterozygous
23;26;5:140167373;GGCGAGCGCGCGCTGTCGAACTACGTGTCAGTGCACGCGGAGAGCGGCAAGGTGTACGCACTGCAGCCCCTGGACCACGAGGAGCTGGAGCTGCTGCAGTTCCA/-;NA;NA;NA;NA;NA;NA;39;NA;PCDHA1;frameshift_variant;NM_018900.3:c.1500_1603del;NP_061723.1:p.Leu504Glyfs*41;NA;0.5;2,2;Heterozygous
33;8;5:140257386;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;35;NA;PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA11,PCDHA12;stop_gained;NM_018900.3:c.2394+89117C>T,NM_018901.3:c.2388+19365C>T,NM_018902.4:c.2391+6307C>T,NM_018903.3:c.2329C>T,NM_018905.2:c.2388+80449C>T,NM_018906.2:c.2394+74210C>T,NM_018907.3:c.2385+68229C>T,NM_018908.2:c.2352+53674C>T,NM_018909.3:c.2394+47316C>T,NM_018910.2:c.2355+41063C>T,NM_018911.2:c.2394+34086C>T,NM_031857.1:c.2394+26912C>T;,,,NP_061726.1:p.Gln777Ter,,,,,,,,;NA,NA,Restless legs syndrome (3),NA,NA,NA,NA,NA,NA,Protocadherin deficiency (1),NA,NA;0.285714;5,2;Heterozygous
28;6;5:140263599;GCGGTCGGTGGGTGCAGGCCACGTGGTGGCGAAGGTGCGCGCGGTGGACGCCGATTCGGGCTACAATGCGTGGCTTTCGTATGAATTGCAGCTGGCG/-;NA;NA;NA;NA;NA;NA;37;NA;PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA11,PCDHA12,PCDHA13;frameshift_variant;NM_018900.3:c.2395-94927_2395-94831del,NM_018901.3:c.2388+25586_2388+25682del,NM_018902.4:c.2391+12528_2391+12624del,NM_018903.3:c.2367+6183_2367+6279del,NM_018904.2:c.1754_1850del,NM_018905.2:c.2388+86670_2388+86766del,NM_018906.2:c.2394+80431_2394+80527del,NM_018907.3:c.2385+74450_2385+74546del,NM_018908.2:c.2352+59895_2352+59991del,NM_018909.3:c.2394+53537_2394+53633del,NM_018910.2:c.2355+47284_2355+47380del,NM_018911.2:c.2394+40307_2394+40403del,NM_031857.1:c.2394+33133_2394+33229del;,,,,NP_061727.1:p.Val585Alafs*35,,,,,,,,;NA,NA,Restless legs syndrome (3),NA,NA,NA,NA,NA,NA,Protocadherin deficiency (1),NA,NA,Autism (1);0.6;2,3;Heterozygous
11;17;5:140868923;CTGAGCCGGGGACGCTGGTGGGGAATGTTGCTCAGGATCTGGGCTTAAAGATGACAGATCTG/-;NA;NA;NA;NA;NA;NA;35;NA;PCDHGA1,PCDHGA2,PCDHGA3,PCDHGA4,PCDHGA5,PCDHGA6,PCDHGA7,PCDHGA8,PCDHGA9,PCDHGA10,PCDHGA11,PCDHGA12,PCDHGB1,PCDHGB2,PCDHGB3,PCDHGB4,PCDHGB5,PCDHGB6,PCDHGB7,PCDHGC3,PCDHGC4,PCDHGC5;frameshift_variant;NM_018912.2:c.2422-5451_2422-5390del,NM_018913.2:c.2437-5451_2437-5390del,NM_018914.2:c.2434-5451_2434-5390del,NM_003735.2:c.2425-5451_2425-5390del,NM_018915.3:c.2425-5451_2425-5390del,NM_018916.3:c.2425-5451_2425-5390del,NM_018917.3:c.2515-5451_2515-5390del,NM_018918.2:c.2422-5451_2422-5390del,NM_018919.2:c.2425-5451_2425-5390del,NM_018920.3:c.2425-5451_2425-5390del,NM_032088.1:c.2425-5451_2425-5390del,NM_018921.2:c.2425-5451_2425-5390del,NM_018922.2:c.2410-5451_2410-5390del,NM_018923.2:c.2422-5451_2422-5390del,NM_018924.4:c.2416-5451_2416-5390del,NM_003736.2:c.2398-5451_2398-5390del,NM_018925.2:c.2398-5451_2398-5390del,NM_018926.2:c.2419-5451_2419-5390del,NM_018927.3:c.2416-5451_2416-5390del,NM_002588.3:c.2431-5451_2431-5390del,NM_018928.2:c.2442+1741_2442+1802del,NM_018929.2:c.116_177del;,,,,,,,,,,,,,,,,,,,,,NP_061752.1:p.Ser39Phefs*10;NA,NA,NA,NA,NA,NA,NA,NA,NA,NA,NA,NA,NA,NA,NA,NA,NA,NA,NA,NA,NA,NA;0.5;2,2;Heterozygous
24;27;13:113854831;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;31;NA;PCID2;splice_acceptor_variant;NM_001320656.1:c.37-1G>A;NA;NA;0.5;2,2;Heterozygous
24;27;19:1487818;GGTCCGGGTCGTAGTCATTGAAGTCATAGCTGGCCAGGGGGTCCTGGGGGCAGGTGGGGATATGAGGGGGCCGGGAGGCGTCCCTAGGGTGGTGCCAGCCTCGGCACCTGGGGCAGCCCTCGCCCACAGCCACCCGCGGTCTCACGTAGTTGGCCCAGA/-;NA;NA;NA;NA;NA;NA;10.8229;NA;PCSK4;splice_acceptor_variant;NM_017573.4:c.503_516+145del;NP_060043.2:p.?;NA;0.5;3,3;Heterozygous
30;7;10:105174043;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;38;NA;PDCD11;stop_gained;NM_014976.1:c.1327C>T;NP_055791.1:p.Gln443Ter;Schizophrenia (1);0.5;2,2;Heterozygous
16;21;9:125588894;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;32;NA;PDCL;splice_donor_variant;NM_005388.4:c.172+1G>A;NA;NA;0.333333;4,2;Heterozygous
14;19;2:178494267;TT/-;NA;NA;NA;NA;NA;NA;35;NA;PDE11A;frameshift_variant;NM_016953.3:c.2669_2670delAA;NP_058649.3:p.Lys890Thrfs*14;"Altered enzyme activity (4); Testicular germ cell tumour (4); Adrenocortical hyperplasia (3); Prostate cancer, susceptibility to (3); Testicular germ cell tumour, association with (2); ACTH-independent macronodular adrenocortical hyperplasia (1); Adrenocortical adenoma (1); Adrenocortical tumours (1)";0.75;1,3;Heterozygous
24;27;5:149500802;CCTGGTAGCTGAAGCCCACGAGGTCCATGTAGCTTAGCACTGGAGACTCGTTGATCAAAGTTGCTCGGCAGGTCCTCTCAGGGGCTAGAGGAGAAGCAGAGGGTCACCTGCTATCTTATATCTCCTTCTGGCCCACAGGACCCCTGCCCTTTGGCT/-;NA;NA;NA;NA;NA;NA;14.2251;NA;PDGFRB;splice_acceptor_variant;NM_002609.3:c.2345-72_2428del;NP_002600.1:p.?;"Basal ganglia calcification, idiopathic (4); Myofibromatosis, infantile (2); Cornelia de Lange syndrome (1); Multiple refractory myofibromatosis, infantile (1); Overgrowth syndrome with neurologic deterioration (1); Penttinen syndrome, autosomal dominant (1)";0.4;3,2;Heterozygous
34;2;16:336701;CT/-;NA;NA;0.006917;217;0;NA;33;NA;PDIA2;frameshift_variant;NM_006849.2:c.1391_1392delTC;NP_006840.2:p.Leu464Glnfs*13;NA;0.448276;16,13;Heterozygous
30;7;4:95497178;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;38;NA;PDLIM5;stop_gained;NM_001256426.1:c.376C>T;NP_001243355.1:p.Gln126Ter;"Bipolar disorder and schizophrenia, association with (1); Schizophrenia, association with (1)";0.285714;5,2;Heterozygous
33;8;10:102778045;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;PDZD7;stop_gained;NM_001195263.1:c.1333C>T;NP_001182192.1:p.Gln445Ter;"Hearing loss, non-syndromic (8); Sensorineural hearing loss (3); Phenotype modifier in Usher syndrome (2); Hearing loss, autosomal recessive (1); Usher syndrome (1)";0.5;2,2;Heterozygous
35;26;15:77544869;C/T;NA;NA;NA;NA;NA;NA;25.3;NA;PEAK1;splice_acceptor_variant;NM_024776.3:c.-274-1G>A;NA;NA;0.473684;20,18;Heterozygous
30;7;6:42935165;TGAGGGCCCGCAGGATGCTGAGCCGCTGCCCCTCTGACAGAGCAGGCACCTCGAGCTCATGAGGAAATGCTGTCTGCACATCAGCAGGCAGGTCCTGGGCCCGGCTTGTGGTGGCCACAACCATGAGGGGAGGGCAGCTGCAGACAGAGGAGTGGGCAC/-;NA;NA;NA;NA;NA;NA;17.9247;NA;PEX6;splice_acceptor_variant;NM_000287.3:c.1689-22_1825del;NP_000278.3:p.?;"Zellweger syndrome (56); Zellweger syndrome C (21); Peroxisome biogenesis disorder (13); Heimler syndrome (6); Neonatal adrenoleukodystrophy (2); Peroxisome biogenesis disorder 4 (2); Tetralogy of Fallot (2); Deafblindness with enamel dysplasia and microcephaly (1); Peroxisome biogenesis disorder 1 (1)";0.5;2,2;Heterozygous
30;7;17:8170360;GAACGGGGCTGTGGTTCTGGAGGAGCCTGTTGGGGAGCTGCGAGCCCTCTGGGAGGAGACGAGTTTCCAGCTGGACCGGCTACAGGCAGAGCCTCGCTGTGTGGCAGAGGAG/-;NA;NA;NA;NA;NA;NA;45;NA;PFAS;frameshift_variant;NM_012393.2:c.2982_3093del;NP_036525.1:p.Val998Terfs;"Glioma, reduced risk, association with (1); Lung cancer, susceptibility to, association with (1)";0.375;5,3;Heterozygous
35;26;1:153303308;G/A;NA;NA;3.19E-05;1;0;1 of 6 Predicted as Damaging;35;NA;PGLYRP4;stop_gained;NM_020393.3:c.1057C>T;NP_065126.2:p.Arg353Ter;NA,NA,Crohn's disease, increased risk (3);0.647059;12,22;Heterozygous
11;17;9:96418801;GGGCAGCCTGACTCAGTTTCCCAACTTTGAAACTGCGTGCTGGTACATGGGGAAGCACCTGCTGGAGGCATTCAAAGGTACTGGTCACTCCGGGGTGGGCGTCCAAGCCTGGGGCTCTTGGCTGTGG/-;NA;NA;NA;NA;NA;NA;40;NA;PHF2;splice_donor_variant;NM_005392.3:c.1071_1147+50del;NP_005383.3:p.?;"Autism (1); Autism spectrum disorder (1)";0.5;2,2;Heterozygous
14;19;6:64408338;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;PHF3;splice_acceptor_variant;NM_015153.3:c.2826-1G>A;NA;Autism (1);0.4;3,2;Heterozygous
19;24;11:71954773;GAGCGGGCCCAGGGATTCTGCAGGAATTGGAGGGAGGGTTGGGCCGGGGCTGCGCTCACCTGCCGAGTAGGGCGCGGGCTGGTGGTCGCGTAGGGCGCCAAGTGCGCAGTTGGAGGAGCCGAGCGCGGGGCAGGGCGGCCCTGCCGCGGGGA/-;NA;NA;NA;NA;NA;NA;37;NA;PHOX2A;splice_donor_variant;NM_005169.3:c.125_217+59del;NP_005160.2:p.?;"Fibrosis of extraocular muscles type 2 (4); Central hypoventilation syndrome (1)";0.5;2,2;Heterozygous
28;6;7:77549748;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;38;NA;PHTF2;stop_gained;NM_001127357.1:c.827G>A;NP_001120829.1:p.Trp276Ter;NA;0.5;2,2;Heterozygous
17;21;11:801260;G/A;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;37;NA;PIDD1;stop_gained;NM_145886.3:c.1588C>T;NP_665893.2:p.Gln530Ter;NA;0.333333;4,2;Heterozygous
17;21;15:65113276;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;39;NA;PIF1;stop_gained;NM_001286497.1:c.1098G>A;NP_001273426.1:p.Trp366Ter;"Breast cancer (1); Multiple sessile serrated adenoma (1)";0.333333;4,2;Heterozygous
2;10;12:18800961;G/C;NA;NA;0.00970564;304;4;1 of 6 Predicted as Damaging;8.854;NA;PIK3C2G;stop_lost;NM_001288772.1:c.4460G>C;NP_001275701.1:p.Ter1487Serext*4;Diabetes, type 2, association with (1);0.722222;5,13;Heterozygous
14;19;3:138461509;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;PIK3CB;stop_gained;NM_006219.2:c.512G>A;NP_006210.1:p.Trp171Ter;"Attenuated insulin resistance in obese children, association with (1); Microcephaly, in blepharophimosis-ptosis-epicanthus inversus syndrome (1)";0.333333;4,2;Heterozygous
9;15;5:108714428;G/A;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;35;NA;PJA2;stop_gained;NM_014819.4:c.760C>T;NP_055634.3:p.Gln254Ter;NA;0.5;2,2;Heterozygous
17;21;7:47898481;TAGCTGCATGAACAGAAAAGATGTAAATAAAATGCCTGGCCTTGAGCAAGGAGTGCCCGGGTGTATTTGAGGATGAGAACCGCACTCATAAAGCT/-;NA;NA;NA;NA;NA;NA;22.9;NA;PKD1L1;splice_acceptor_variant;NM_138295.3:c.4150-92_4152del;NP_612152.1:p.=;"Heterotaxy & heart malformations (1); Situs inversus totalis & congenital heart disease (1); Subarachnoid haemorrhage, association with (1)";0.571429;3,4;Heterozygous
17;21;8:110464510;G/A;NA;NA;0.00602333;189;2;2 of 6 Predicted as Damaging;28.5;NA;PKHD1L1;splice_donor_variant;NM_177531.4:c.6507+1G>A;NA;Autism spectrum disorder (1);0.625;3,5;Heterozygous
23;26;9:131482759;T/C;NA;NA;NA;NA;NA;NA;17.64;NA;PKN3;stop_lost;NM_013355.4:c.2544T>C;NP_037487.2:p.Phe848=;NA;0.4;3,2;Heterozygous
16;21;14:65204025;CCCCTGCCCCTCGCCCGTGTGCTGGGGGACCCGGTGGTGATGTCTGCAGCCCGAGCAGCAGGAATGAAGGTAAAGGCCAGTGGGAGGAGGGGACTGGCTGACAGAGGAGGGTGGGACTGCCCAGGTCAGC/-;NA;NA;NA;NA;NA;NA;39;NA;PLEKHG3;frameshift_variant;NM_001308147.1:c.1385-49_1404+61del;NP_001295076.1:p.Ala462Glyfs*8;NA;0.5;2,2;Heterozygous
34;2;19:282285;C/T;NA;NA;3.19E-05;1;0;2 of 6 Predicted as Damaging;42;NA;PLPP2;stop_gained;NM_177543.2:c.629G>A;NP_808211.1:p.Trp210Ter;NA;0.473684;10,9;Heterozygous
8;15;19:11473230;G/-;NA;NA;NA;NA;NA;NA;15.65;NA;PLPPR2;frameshift_variant;NM_001170635.1:c.631delG;NP_001164106.1:p.Val211Serfs*36;NA;0.4;3,2;Heterozygous
17;21;3:146246619;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;24.2;NA;PLSCR1;splice_acceptor_variant;NM_021105.2:c.95-1G>A;NA;NA;0.285714;5,2;Heterozygous
33;8;17:7297479;C/T;NA;NA;NA;NA;NA;NA;18.24;NA;PLSCR3;splice_acceptor_variant;NM_020360.3:c.-50G>A;NA;NA,NA;0.333333;4,2;Heterozygous
17;21;3:129285373;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;46;NA;PLXND1;stop_gained;NM_015103.2:c.4188G>A;NP_055918.2:p.Trp1396Ter;"Moebius syndrome (3); Diabetic nephropathy, association with (2); Truncus arteriosus (1)";0.285714;5,2;Heterozygous
2;10;15:74324860;GGCCCTGGGGCTGCTGCCTAGTCATTTCTGACTCAATTTTCCCAACTTTGCAGCCCGAGGAGGCAGAGAGAGTGAAGGCCCAGGTTCA/-;NA;NA;NA;NA;NA;NA;35;NA;PML;splice_acceptor_variant;NM_033238.2:c.1255-40_1302del;NP_150241.2:p.?;"Breast cancer (1); Colon cancer (1); Paget disease of bone, association with (1)";0.375;10,6;Heterozygous
35;26;6:36274148;T/A;NA;NA;0.00955536;300;1;1 of 6 Predicted as Damaging;34;Benign/Likely benign (2);PNPLA1;stop_gained;NM_001145717.1:c.1464T>A;NP_001139189.2:p.Tyr488Ter;"Ichthyosis, autosomal recessive congenital (4); Autism spectrum disorder (1); Ichthyosis, lamellar (1)";0.551724;13,16;Heterozygous
34;2;12:89864137;C/A;NA;NA;3.22E-05;1;0;2 of 6 Predicted as Damaging;32;Pathogenic (1);POC1B;splice_donor_variant;NM_172240.2:c.810+1G>T;NA;Cone-rod dystrophy (3);0.515152;16,17;Heterozygous
30;7;19:50919919;CCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGC/-;NA;NA;NA;NA;NA;NA;50;NA;POLD1;splice_donor_variant;NM_002691.3:c.3013_3067+16del;NP_002682.2:p.?;"Endometrioid endometrial carcinoma (5); Colorectal adenoma/carcinoma (4); Colorectal cancer (4); Mandibular hypoplasia, deafness and progeroid features (2); Adenomatous polyposis coli (1); Pancreatic cancer (1)";0.285714;5,2;Heterozygous
17;21;6:43495896;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;32;NA;POLR1C,XPO5;splice_donor_variant;NM_001318876.1:c.923-1091C>T,NM_020750.2:c.2822+1G>A;,;"Autism (1); Multiple myeloma, survival, association with (1); Nephrotic syndrome, steroid resistant (1); Wilms tumour (1)";0.285714;5,2;Heterozygous
30;7;11:70171025;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;PPFIA1;stop_gained;NM_003626.3:c.439C>T;NP_003617.1:p.Gln147Ter;Neurodevelopmental disorder (1);0.333333;4,2;Heterozygous
33;8;19:45889306;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;PPP1R13L;splice_donor_variant;NM_006663.3:c.1947+1G>A;NA;NA;0.5;2,2;Heterozygous
24;27;15:41109294;CCTGTAATCTCAGCACTTTGGGAGGCCAAGGCGGGTGTATCATTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACGTGGTAAAACCCCGTCTCTACTGAATATACAAAAATTAGCTGGGTGTGGTTGCGCATA/-;NA;NA;NA;NA;NA;NA;1.87497;NA;PPP1R14D;splice_donor_variant;NM_001130143.1:c.371+2_371+136del;NA;NA;0.4;3,2;Heterozygous
17;21;8:8999047;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;39;NA;PPP1R3B;stop_gained;NM_024607.3:c.115C>T;NP_078883.2:p.Gln39Ter;NA;0.285714;5,2;Heterozygous
24;27;5:133537670;C/-;NA;NA;NA;NA;NA;NA;40;NA;PPP2CA;frameshift_variant;NM_002715.2:c.355delG;NP_002706.1:p.Glu119Argfs*16;NA;0.5;2,2;Heterozygous
30;7;5:146030138;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;45;NA;PPP2R2B;stop_gained;NM_181675.3:c.915G>A;NP_858061.2:p.Trp305Ter;"Spinocerebellar ataxia 12 (3); Alzheimer disease, association with (1); Bile-duct dilatation (1); Intellectual disability (1)";0.5;2,2;Heterozygous
24;27;8:22333047;A/-;NA;NA;NA;NA;NA;NA;11.15;NA;PPP3CC;frameshift_variant;NM_001243974.1:c.283delA;NP_001230903.1:p.Met95Terfs;NA;0.5;2,2;Heterozygous
33;8;11:129827643;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;PRDM10;stop_gained;NM_020228.2:c.232C>T;NP_064613.2:p.Gln78Ter;Schizophrenia (5);0.333333;4,2;Heterozygous
2;10;21:43299046;GGCGCGAGGCAGGGGACGGGGGCGCGGAGCCCGGCCAGGAGCGCCCGCGGCGGCGGGACCCGGCGGGCGGGC/-;NA;NA;NA;NA;NA;NA;12.4694;NA;PRDM15;splice_donor_variant;NM_022115.4:c.235_247+59del;NP_071398.3:p.?;NA;0.5;2,2;Heterozygous
25;3;8:68968085;CA/-;NA;NA;NA;NA;NA;NA;44;NA;PREX2;frameshift_variant;NM_024870.3:c.1114_1115delCA;NP_079146.2:p.Gln372Argfs*8;Breast cancer (1);0.5;2,2;Heterozygous
24;27;3:169953126;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;42;NA;PRKCI;stop_gained;NM_002740.5:c.210G>A;NP_002731.4:p.Trp70Ter;NA;0.333333;4,2;Heterozygous
24;27;10:54050035;T/-;NA;NA;NA;NA;NA;NA;18.54;NA;PRKG1;frameshift_variant;NM_006258.3:c.1947delT;NP_006249.1:p.Pro650Leufs*2;Thoracic aortic aneurysms and dissections (3);0.4;3,2;Heterozygous
16;21;2:179309175;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;PRKRA;stop_gained;NM_003690.4:c.370C>T;NP_003681.1:p.Gln124Ter;"NA,Dystonia (2); Dystonia-parkinsonism (2); Ankylosing spondylitis, association with (1); Blepharospasm, oromandibular dystonia, dystonic head tremour, akinesia & postural instability (1); Dystonia-parkinsonism, early-onset (1); Intellectual disability, nonsyndromic (1)";0.5;2,2;Heterozygous
9;15;11:20515734;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;PRMT3;stop_gained;NM_005788.3:c.1420C>T;NP_005779.1:p.Gln474Ter;"NA (NA); Disease/phenotype (Number of mutations)";0.5;2,2;Heterozygous
19;24;19:36303196;GGGCCCGAACAGCAAAGCCCCTTCCTGCGTCCTCCCAGCCTCCCTGGGCCCTGGCTCCCTACTCACCCACTCTTGGCAGCAGAGTCCGGCTCCTCCTCAGTGGGCACTGCCAGCAGTGGTC/-;NA;NA;NA;NA;NA;NA;42;NA;PRODH2;splice_donor_variant;NM_021232.1:c.545_599+66del;NP_067055.1:p.?;Hydroxyprolinaemia (8);0.5;2,2;Heterozygous
30;7;11:60669880;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;PRPF19;stop_gained;NM_014502.4:c.520C>T;NP_055317.1:p.Gln174Ter;NA;0.5;2,2;Heterozygous
8;15;19:50102788;TGCCACCCTCTGTGCCAGCCCGAGGCCTGCAGCCCCAGCCCCC/-;NA;NA;NA;NA;NA;NA;45;NA;PRR12;frameshift_variant;NM_020719.2:c.3946_3988del;NP_065770.1:p.Ser1316Leufs*41;NA,NA,NA,NA,NA,NA,NA,NA,NA,NA,NA;0.6;2,3;Heterozygous
33;8;19:5783600;GGCCGAGGTGACCCTGGAGGTGGCTGTAGGCGTCTGGGGGCAGTGTGGGCTCTGCAGGCAGCGTGATGAGTACAGGGGGCGGCTTGTTCTCCTTGGGGGGTGGGGGTGGCAGCGG/-;NA;NA;NA;NA;NA;NA;37;NA;PRR22;frameshift_variant;NM_001134316.1:c.544_658del;NP_001127788.1:p.Pro182Thrfs*71;NA;0.333333;4,2;Heterozygous
2;10;1:153190792;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;38;NA;PRR9;stop_gained;NM_001195571.1:c.172C>T;NP_001182500.1:p.Gln58Ter;NA,NA,NA;0.4;3,2;Heterozygous
30;7;2:113943807;G/-;NA;NA;NA;NA;NA;NA;12.83;NA;PSD4;frameshift_variant;NM_012455.2:c.1603delG;NP_036587.2:p.Asp535Thrfs*4;NA;0.5;2,2;Heterozygous
32;8;2:232026109;T/-;NA;NA;NA;NA;NA;NA;16.12;NA;PSMD1;frameshift_variant;NM_002807.3:c.2275delT;NP_002798.2:p.Ser759Leufs*37;NA;0.4;3,2;Heterozygous
8;15;14:74327274;C/T;NA;NA;0.000127502;4;0;2 of 6 Predicted as Damaging;36;NA;PTGR2;stop_gained;NM_152444.2:c.70C>T;NP_689657.1:p.Arg24Ter;NA;0.5;2,2;Heterozygous
9;15;9:125152532;TCAGGGAGTCTCGGGAGATGCGGCTGCAGCCCTTCAATGAGTACCGCAAGAGGTTTGGCATGAAACCCTACACCTCCTTCCAGGAGCTCGTAGGTGAGCAGCTGTTTCCTGGATGCAGTCCCTGCCCTTGAGGGACTGGCAGCAAAG/-;NA;NA;NA;NA;NA;NA;19.3617;NA;PTGS1;splice_donor_variant;NM_000962.3:c.1360_1444+62del;NP_000953.2:p.?;"Reduced activity (7); Inhibition of prostaglandin H2 formation, association (2)";0.333333;4,2;Heterozygous
9;15;3:46940317;CCCGCCGCCTGCCACCGCCGCTGCCGGCTACGTGAGTACCCCTCTGCCCGCCCGCTCCCGGTGCCGCCACTGGCCTCGTGGGGCCCCGCCCCGCCCCGCTCCAGCCCGGCCCTCGCCCTG/-;NA;NA;NA;NA;NA;NA;8.93672;NA;PTH1R;splice_donor_variant;NM_000316.2:c.810_834+95del;NP_000307.1:p.?;"Primary failure of tooth eruption (24); Metaphyseal chondrodysplasia (6); Ollier disease (2); Primary failure of tooth eruption and osteoarthritis (2); Eiken skeletal dysplasia (1); Metaphyseal dysplasia, Jansen (1); Osteochondrodysplasia, Blomstrand (1); Osteochondrodysplasia, Blomstrand, type 1 (1); Osteochondrodysplasia, Blomstrand, type 2 (1)";0.5;2,2;Heterozygous
30;7;8:141829092;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;PTK2;stop_gained;NM_005607.4:c.742C>T;NP_005598.3:p.Gln248Ter;NA;0.333333;4,2;Heterozygous
8;15;2:131128143;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;36;NA;PTPN18;stop_gained;NM_014369.3:c.703C>T;NP_055184.2:p.Arg235Ter;NA;0.75;1,3;Heterozygous
33;8;4:37962609;AT/-;NA;NA;0.00894677;281;0;NA;22.6;NA;PTTG2,TBC1D1;frameshift_variant;NM_006607.2:c.554_555delAT,NM_015173.3:c.418-53521_418-53520delAT;NP_006598.2:p.His185Leufs*8,;"Kidney and urinary tract abnormalities (CAKUT) (3); Obesity, association with (1),NA";0.545455;5,6;Heterozygous
23;26;7:44924609;GCCGCCCTCCTCGGCGCCA/-;NA;NA;NA;NA;NA;NA;31;NA;PURB;frameshift_variant;NM_033224.4:c.321_339del;NP_150093.1:p.Ala109Argfs*76;NA;0.5;2,2;Heterozygous
34;2;12:133277835;G/A;NA;NA;0.000350341;11;0;2 of 6 Predicted as Damaging;27.5;NA;PXMP2;splice_acceptor_variant;NM_018663.2:c.400-1G>A;NA;NA;0.294118;12,5;Heterozygous
17;21;15:55497821;G/A;NA;NA;3.19E-05;1;0;2 of 6 Predicted as Damaging;46;Pathogenic (3);RAB27A;stop_gained;NM_004580.4:c.550C>T;NP_004571.2:p.Arg184Ter;"Griscelli syndrome (27); Griscelli syndrome type 2 (12); Haemophagocytic lymphohistiocytosis (4); Haemophagocytic lymphohistiocytosis, familial (1); Immunodeficiency (1)";0.375;5,3;Heterozygous
17;21;3:133560235;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;26.4;NA;RAB6B;splice_acceptor_variant;NM_016577.3:c.184-1G>A;NA;NA;0.333333;4,2;Heterozygous
24;27;16:28917307;CCCGGGGCTGGGGGCTTGTGCCCCTCCCCTCACCTGTCTCCTCCCGCTGCACCCTCAGCTGCCCCTCCAGGCTGGCCCTGGC/-;NA;NA;NA;NA;NA;NA;48;NA;RABEP2;splice_donor_variant;NM_024816.2:c.1375_1423+33del;NP_079092.2:p.?;NA,NA,NA;0.4;3,2;Heterozygous
9;15;3:120424920;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;38;NA;RABL3;stop_gained;NM_173825.3:c.310C>T;NP_776186.2:p.Gln104Ter;NA;0.5;2,2;Heterozygous
7;14;7:4843086;CCCCCTCCCCGGGCACCTCGGGGCACGCTGGCTGGGTCCCCTCCCCGGGCACCTCGGGGCACGCTGGCTGGGGGGCCCCCTCCCCGGGTACCTCGGGGCACACTGGCTGGGAGGC/-;NA;NA;NA;NA;NA;NA;38;NA;RADIL;splice_donor_variant;NM_018059.4:c.2476_2499+91del;NP_060529.4:p.?;Saccular intracranial aneurysm incidence, association with (1);0.4;3,2;Heterozygous
24;27;9:134464107;GGGGCTGGCAGGGAGGGAGGGTAAACTGAGAAAGGCACGGCTCCTGGGGAAGAGGCAGGGCTGGAGAGGTGGGCTTCTCACCTGGCTGCTACCCCCCGGGCTGCCA/-;NA;NA;NA;NA;NA;NA;34;NA;RAPGEF1;splice_donor_variant;NM_198679.1:c.2525_2549+81del;NP_941372.1:p.?;Intellectual disability (1);0.5;2,2;Heterozygous
33;8;12:48141614;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;42;NA;RAPGEF3;stop_gained;NM_001098531.2:c.1354C>T;NP_001092001.1:p.Gln452Ter;NA;0.285714;5,2;Heterozygous
14;19;6:88273877;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;38;NA;RARS2;stop_gained;NM_020320.4:c.184C>T;NP_064716.2:p.Gln62Ter;"Pontocerebellar hypoplasia (18); Epileptic encephalopathy with infantile spasms (2); Infantile mitochondrial disease, non-lethal (2); Psychomotor retardation, autism and ataxia (2); West syndrome, developmental regression, and cerebellar atrophy (2); Intellectual disability (1); Intellectual disability, atrophy of bilateral cerebellum, hypoplastic vermis, seizures (1); Intellectual disability, hypoplasia of corpus callosum, and behavioural/psychiatric abnormalities (1); Pontocerebellar hypoplasia with infantile spasms (1)";0.5;2,2;Heterozygous
30;7;13:27847182;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;RASL11A;stop_gained;NM_206827.1:c.280C>T;NP_996563.1:p.Gln94Ter;NA;0.285714;5,2;Heterozygous
9;15;8:53569265;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;RB1CC1;stop_gained;NM_014781.4:c.3124C>T;NP_055596.3:p.Gln1042Ter;"Decreased promoter activity (1); Increased promoter activity (1); Leukaemia, risk, association with (1); Schizophrenia (1)";0.4;3,2;Heterozygous
24;27;1:33123137;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;38;NA;RBBP4;stop_gained;NM_005610.2:c.274C>T;NP_005601.1:p.Gln92Ter;NA;0.5;2,2;Heterozygous
2;10;2:28070906;G/-;NA;NA;0.000191022;6;0;NA;34;NA;RBKS;frameshift_variant;NM_022128.2:c.281delC;NP_071411.1:p.Ser94Leufs*18;NA;0.8;1,4;Heterozygous
17;21;10:6147008;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;RBM17;stop_gained;NM_032905.4:c.355C>T;NP_116294.1:p.Arg119Ter;NA;0.5;2,2;Heterozygous
17;21;11:63683847;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;RCOR2;stop_gained;NM_173587.3:c.82C>T;NP_775858.2:p.Gln28Ter;NA;0.285714;5,2;Heterozygous
11;17;8:21998091;CCCACCTCACCAAGTCCTATTAAACACACCCAAACCCCCACGCTCACATATTCACGAATGTTCTTGGTCTTCACAGCCTTATAGGAAGCATAAGCTGGACACAGCATCCCAAACACCAGCCTGGAAGAGCAGCCATGGGGAGTGTGAGGGGCACCATGCCCCACT/-;NA;NA;NA;NA;NA;NA;16.8337;NA;REEP4;frameshift_variant;NM_025232.3:c.33-45_105+47del;NP_079508.2:p.Leu12Cysfs*4;NA;0.4;3,2;Heterozygous
24;27;19:1823745;GGGCCGGGGGCACCGCGGGACCCCTCCTCGGGGGCTCCACCTGCGTCACCACAAATGCTAAGGCCTGGCAGCACAGCGGGGGCACCTGGAGCAGGCGACCCCGGGCAGGCTTGGGAGAGGGTGGCTGGAGCTCGG/-;NA;NA;NA;NA;NA;NA;5.06682;NA;REXO1;splice_acceptor_variant;NM_020695.3:c.2017-95_2056del;NP_065746.3:p.?;NA,NA;0.4;3,2;Heterozygous
17;21;9:116357191;CCCCTCAGGCCCACCTCAGAGGAAGCCCTCAAGTGGGGCGAGTCCTTGGAGAAGCTGCTGGTTCACAAATGTAAGTTGGGCCTGCCTGCCCACTCCCTGTGCCCTCTCTCCCTCT/-;NA;NA;NA;NA;NA;NA;49;NA;RGS3;frameshift_variant;NM_144488.5:c.3183-8_3244+45del;NP_652759.3:p.Pro1062Argfs*12;NA;0.444444;5,4;Heterozygous
17;21;8:144460494;GGGAGCTGGAGGCCCTGCGGCAGGTGTGTGGTTCCCCCGCCCACCCACCCTCCTGCAGCCCTGGGAGACACATGCGGAGGCTGAAGCTGAAGTCAGGAACAGACAGAGGAGCTCAGCGTAGACATCTCGAGGACGTG/-;NA;NA;NA;NA;NA;NA;46;NA;RHPN1;splice_donor_variant;NM_052924.2:c.437_459+114del;NP_443156.2:p.?;NA;0.5;3,3;Heterozygous
19;24;12:49259336;GGCTGGGGGAGCCACGTCTCCTGAGCAGGTGGAAATCTACCCCAAGGCGGGCAGGCAGGGAGAAAAGCCGGCCAGCGGGCGGGCGGGCAGCTCACCTCTGGATAGCAATCCTTCGCTAACACTTGCAACATCGCGGTCTTCCCACACTGCACGTCCCCGACCAGAACGAGCTTACATCTGGCCACGACT/-;NA;NA;NA;NA;NA;NA;19.2623;NA;RND1;splice_donor_variant;NM_014470.3:c.27_120+95del;NP_055285.1:p.?;NA;0.5;2,2;Heterozygous
21;25;8:33408888;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;44;NA;RNF122;stop_gained;NM_024787.3:c.202C>T;NP_079063.2:p.Gln68Ter;NA;0.5;2,2;Heterozygous
17;21;8:125499511;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;39;NA;RNF139;stop_gained;NM_007218.3:c.1621C>T;NP_009149.2:p.Gln541Ter;"Dysgerminoma (1); Renal cell carcinoma, hereditary (1)";0.285714;5,2;Heterozygous
32;8;16:2018734;CCTGCGGCGTGTGCGCTGGCTGGACCAAGCCACCAGTGTCGTTCGTAGAGAGCTGGCGGAGCTCAGCAACTTCCTGGAGGAAGACACCGCTCTGCTGGAGGGTGCCCCACAGGAGGAGGCCGAGGCTGCCCCAGAAGGCAACGTTGGGGCTGAGGTGGTGGGGGAGCCCAGGGCCAACATACCTTGTAAATAGGTAAATAAAAGCAGACCCCCGGCCTGCCTGCCTCTGTG/-;NA;NA;NA;NA;NA;NA;9.90523;NA;RNF151;frameshift_variant;NM_174903.4:c.546_*38del;NP_777563.2:p.Arg185Profs*2;NA;0.375;5,3;Heterozygous
35;26;9:116061239;C/T;NA;NA;NA;NA;NA;NA;20.5;NA;RNF183;splice_donor_variant;NM_145051.3:c.-38+1G>A;NA;NA;0.589744;16,23;Heterozygous
17;21;6:125284570;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;40;NA;RNF217;stop_gained;NM_001286398.2:c.880C>T;NP_001273327.1:p.Gln294Ter;NA;0.333333;4,2;Heterozygous
9;15;11:497999;GGCCCAGGCCCTGGCACAGCTCCCGCACGCCCGCATCCTCCAGCCTGTTGTTGCTTATCTGTAGCTCCAGGAGAAACCTGTTCTGGGCCAGCACTGAGCTGAAGTGGGAGCAGCAGGCGGCTGTGAAGCTGCAGGACTTCACCCTGTGGACACAGACAGGACTGACGCCTGGCAGG/-;NA;NA;NA;NA;NA;NA;48;NA;RNH1;splice_acceptor_variant;NM_002939.3:c.957-33_1099del;NP_002930.2:p.?;NA;0.6;2,3;Heterozygous
24;27;18:18566913;C/-;NA;NA;NA;NA;NA;NA;50;NA;ROCK1;frameshift_variant;NM_005406.2:c.2302delG;NP_005397.1:p.Glu768Lysfs*5;"Tetralogy of Fallot (1); Tetralogy of Fallot, predisposition to (1)";0.4;3,2;Heterozygous
25;3;12:48062881;G/A;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;35;NA;RPAP3;stop_gained;NM_024604.2:c.1531C>T;NP_078880.2:p.Gln511Ter;NA;0.5;2,2;Heterozygous
7;14;1:152127209;GTTTGCCTGTCTCATCTCTGATGGTTCTGCTCGTCTTCATGGGTTTGCCTGTCTCGTCTCTGACGGTTCTGCTTGTCTTCATGG/-;NA;NA;NA;NA;NA;NA;12.6199;NA;RPTN;stop_lost;NM_001122965.1:c.2283_*11del;NP_001116437.1:p.Asp764Gluext*80;NA,NA,Moyamoya disease, association with (1);0.6;2,3;Heterozygous
17;21;6:90077837;G/A;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;42;NA;RRAGD;stop_gained;NM_021244.4:c.1141C>T;NP_067067.1:p.Gln381Ter;NA;0.285714;5,2;Heterozygous
8;15;20:17606218;CCCGACACCTGGGACTCCAGCTCCTTGAGGCTGAAGGGACACAACGAGGTCACCGCCTAGGCTCCAAGGGGCTACAGCCCCTACAGATCCCACCTGAGGCCCCATCCAGGGAGGAGTACCTTCGAGGCTGAACCATCTGGCCAGGGACGGTCCCTTCTGGCTGCCCCCACCTCACCCAGCGTGAGCTCCCAGGGAAGCCTGAGCAGCC/-;NA;NA;NA;NA;NA;NA;50;NA;RRBP1;splice_acceptor_variant;NM_001042576.1:c.1665-178_1694del;NP_001036041.1:p.?;NA;0.5;2,2;Heterozygous
23;26;2:10263037;GGAGGGCGCTGCGGGCAGGGGAGGGAGGCAGGGAAAGCGAAGCCGCTCCTCACTCACACGCGTCTCCCCGCAGCCGCCGGCCCTGAGCGGGACCCGCGTCCTGGCCAGCAAGACCGCGA/-;NA;NA;NA;NA;NA;NA;41;NA;RRM2;splice_acceptor_variant;NM_001165931.1:c.280-68_330del;NP_001159403.1:p.?;NA;0.4;3,2;Heterozygous
30;7;10:63995914;-/C;NA;NA;NA;NA;NA;NA;27.1;NA;RTKN2;frameshift_variant;NM_145307.3:c.597_598insG;NP_660350.2:p.Ser200Valfs*4;Rheumatoid arthritis, susceptibility to, association with (1);0.4;3,2;Heterozygous
34;2;19:45996621;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;34;NA;RTN2;stop_gained;NM_005619.4:c.830G>A;NP_005610.1:p.Trp277Ter;Spastic paraplegia 12 (4);0.45;22,18;Heterozygous
32;8;1:237819130;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;50;NA;RYR2;stop_gained;NM_001035.2:c.7975C>T;NP_001026.2:p.Gln2659Ter;"Catecholaminergic polymorphic ventricular tachycardia (150); Ventricular tachycardia, polymorphic (57); Cardiomyopathy, dilated (17); Long QT syndrome (12); Sudden cardiac death (11); Sudden unexplained death (9); Arrhythmogenic right ventricular dysplasia/cardiomyopathy (7); Arrhythmogenic right ventricular dysplasia type 2 (5); Cardiomyopathy, hypertrophic (5); Brugada syndrome (4); Short-coupled variant of torsade de pointes (4); Cardiac arrhythmia (3); Channelopathy (2); Colorectal cancer (2); Hyperemesis gravidarum (2); Sudden infant death syndrome (2); Sudden unexpected death in infancy (2); Ventricular fibrillation, idiopathic (2); Altered channel function (1); Arrhythmogenic right ventricular cardiomyopathy (1); Arrhythmogenic right ventricular cardiomyopathy, association with (1); Autism (1); Cardiac arrest (1); Cardiomyopathy, right ventricular (1); Intellectual disability (1); Left ventricular noncompaction (1); Schizophrenia, childhood onset (1); Sudden unexpected death in epilepsy (1); Sudden unexpected death, increased risk (1); Ventricular fibrillation, recurrent (1)";0.5;3,3;Heterozygous
19;24;12:108920274;G/A;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;35;NA;SART3;stop_gained;NM_014706.3:c.1972C>T;NP_055521.1:p.Gln658Ter;Disseminated superficial actinic porokeratosis (1);0.333333;4,2;Heterozygous
24;27;6:148795359;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;33;NA;SASH1;splice_donor_variant;NM_015278.4:c.627+1G>A;NA;"Dyschromatosis universalis hereditaria (3); Lentigines (1); Lentigines & dyschromatosis (1); Lentiginosis, autosomal dominant (1); Pigmentation defects, palmoplantar keratoderma & skin carcinoma (1)";0.4;3,2;Heterozygous
30;7;11:9871576;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;45;NA;SBF2;stop_gained;NM_030962.3:c.2800C>T;NP_112224.1:p.Gln934Ter;"Charcot-Marie-Tooth disease 4b2 (7); Peripheral neuropathy (6); Hereditary motor & sensory neuropathy (4); Charcot-Marie-Tooth disease (1); Thrombocytopaenia (1),NA";0.4;3,2;Heterozygous
23;26;15:75144391;CCCCAGCAGCCTCCCTTACCATGCAAGTTGGCTACAGTGTTCTGCAGCTCCCGCTCCTTGCGTTCCAGCTCGGCAGCTTTCCTGTCCAGTTCTTCCTGCTGCCGGAGCAGGCCTGCCTGGGCTGCAGACACCACGGCCTGGAGAGAACAGGGGAGGTA/-;NA;NA;NA;NA;NA;NA;40;NA;SCAMP2;frameshift_variant;NM_001320778.1:c.355-21_472+19del;NP_001307707.1:p.Ala119Ter;NA;0.4;3,2;Heterozygous
30;7;2:166894362;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;41;NA;SCN1A;stop_gained;NM_001165963.1:c.2870G>A;NP_001159435.1:p.Trp957Ter;"Dravet syndrome (597); Myoclonic epilepsy of infancy (407); Dravet syndrome C (112); Generalized epilepsy with febrile seizures plus (63); Intractable epilepsy (28); Dravet syndrome B (26); Epilepsy (18); Epileptic encephalopathy (14); Myoclonic epilepsy, borderline (9); Hemiplegic migraine (7); Cryptogenic generalised epilepsy (6); Generalised epilepsy with febrile seizures plus 2 (6); Febrile seizures (5); Lennox-Gastaut syndrome (5); Autism (4); Cryptogenic focal epilepsy (4); Myoclonic-astatic epilepsy (4); Autism spectrum disorder (3); Febrile seizures plus (3); Migrating partial seizures of infancy, severe developmental delay and acquired microcephaly (3); Partial epilepsy with febrile seizures plus (3); Acute encephalopathy (2); Epilepsy, early-onset (2); Epileptic encephalopathy, early onset (2); Generalized epilepsy of infancy (2); Hemiplegic migraine 2 (2); Migrating partial seizures of infancy (2); Acute encephalopathy with biphasic seizures & late reduced diffusion (1); Decreased mRNA stability (1); Development delay with seizures (1); Developmental delay, poor coordination & seizures (1); Developmental delay, poor coordination, joint contractures & seizures (1); Developmental disorder and intellectual disability (1); Dravet syndrome & mental retardation (1); Dravet syndrome and generalised epilepsy with febrile seizures (1); Dravet syndrome with cortical myoclonus (1); Dravet syndrome, atypical (1); Dravet syndrome, late-onset (1); Epilepsy of infancy with migrating focal seizures (1); Epilepsy of infancy with migrating focal seizures, developmental delay & cleft palate (1); Epilepsy with cognitive impairment / autism spectrum disorder (1); Epilepsy with febrile seizures plus (1); Epilepsy with febrile seizures plus & Dravet syndrome (1); Epilepsy-aphasia (1); Epilepsy-aphasia with febrile seizures plus (1); Epilepsy, apnoea, mental retardation & dysmorphic features (1); Epilepsy, drug-resistant (1); Epilepsy, focal (1); Epilepsy, idiopathic (1); Epilepsy, severe (1); Epilepsy, symptomatic, reduced risk (1); Epileptic encephalopathy, dravet syndrome (1); Epileptic encephalopathy, infantile (1); Febrile seizures, association with (1); Focal epilepsy (1); Generalised epilepsy (1); Generalised epilepsy with febrile seizures plus (1); Hemiplegic migraine 3 (1); Hemiplegic migraine and epilepsy (1); Hepatic coma (1); Infantile seizures, microcephaly, brain anomalies, facial dysmorphism, growth retardation & neuromuscular scoliosis (1); Intellectual disability, ataxia, stroke-like episodes & seizures (1); Intellectual disability, challenging behaviour & seizures (1); Lenox<U+FFFD>Gastaut syndrome (1); Malignant migrating partial seizures in infancy (1); Myoclonic seizures (1); Panayiotopoulos syndrome (1); Partial seizures of infancy, malignant migrating (1); Phenotype modifier (1); Rasmussen encephalitis (1); Rett-like syndrome (1); Seizures, developmental delay, growth retardation, microcephaly & micrognathia (1); Sudden unexpected death in epilepsy (1)";0.5;2,2;Heterozygous
17;21;1:169847870;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;42;NA;SCYL3;stop_gained;NM_181093.3:c.256C>T;NP_851607.2:p.Gln86Ter;NA,NA,NA;0.285714;5,2;Heterozygous
19;24;17:71386531;TGGCTGTGTACTGCCGGGCGCTGGGTGCCAGCACCTCCACAGTGGCGGTGTTGGCCGTGGTGGTGTTGAGCCGGTGTGTGATCTGGTAAGCTGTGGGAAGGAAGCACATGGCTATTATGGCAAGCAAGGCAAGCCGCTCCTAGGGCCCCGGGAAGGGTTGTTCCGTCCAAAGCCACAGCTGTGTCTGTACATGGCCACCTTGCCGTGGTCCCTT/-;NA;NA;NA;NA;NA;NA;52;NA;SDK2;splice_acceptor_variant;NM_001144952.1:c.3998-124_4087del;NP_001138424.1:p.?;NA;0.6;2,3;Heterozygous
19;24;12:113874611;C/T;NA;NA;0.00191192;60;0;1 of 6 Predicted as Damaging;35;NA;SDSL;stop_gained;NM_138432.3:c.727C>T;NP_612441.1:p.Gln243Ter;NA;0.8;1,4;Heterozygous
11;17;22:50655040;GCTGGGGCAGGCGGAGCAGCTGCCTGCAGGGCAGGGACACGGTCAGGGGCTACCTCCCAGACACCCTGGCCTCTCCACAGGCAGCTATCCATGATGCTGATGCTGGCGCAGTCAAACCCGCAGCTGTTCGCGCTTATGGGCACCCGGGCAGGCATCGCCAGGGA/-;NA;NA;NA;NA;NA;NA;54;NA;SELENOO;splice_acceptor_variant;NM_031454.1:c.1503-80_1586del;NP_113642.1:p.?;NA;0.4;3,2;Heterozygous
25;3;5:42810687;AAGTAGCTGGGATTACAGGCTCTCGCCACCACGTCCTGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTACACTCCTCACCTCGTGATCCGCCTGCCTTGGCCTCCCA/-;NA;NA;NA;NA;NA;NA;12;NA;SELENOP;splice_donor_variant;NM_001093726.1:c.50_77+106del;NP_001087195.1:p.?;NA;0.333333;4,2;Heterozygous
30;7;3:50224111;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;40;NA;SEMA3F;stop_gained;NM_004186.4:c.1879C>T;NP_004177.3:p.Gln627Ter;Schizophrenia (1);0.285714;5,2;Heterozygous
2;10;3:52472938;TT/-;NA;NA;NA;NA;NA;NA;27.8;NA;SEMA3G;frameshift_variant;NM_020163.2:c.1506_1507delAA;NP_064548.1:p.Arg503Alafs*20;NA;0.5;2,2;Heterozygous
33;8;3:122634640;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;41;NA;SEMA5B;stop_gained;NM_001256347.1:c.1948C>T;NP_001243276.1:p.Gln650Ter;NA;0.285714;5,2;Heterozygous
23;26;1:28598238;G/-;NA;NA;NA;NA;NA;NA;11.65;NA;SESN2;frameshift_variant;NM_031459.4:c.210delG;NP_113647.1:p.Met71Cysfs*6;Autism (1);0.5;2,2;Heterozygous
30;7;11:64532902;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;16.12;NA;SF1;stop_gained;NM_001178030.1:c.*24C>T;NA;NA;0.5;2,2;Heterozygous
30;7;1:38445140;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;39;NA;SF3A3;stop_gained;NM_006802.3:c.756G>A;NP_006793.1:p.Trp252Ter;NA;0.4;3,2;Heterozygous
30;7;2:198272811;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;SF3B1;stop_gained;NM_012433.3:c.1150C>T;NP_036565.2:p.Gln384Ter;NA;0.5;2,2;Heterozygous
23;26;1:27190364;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;41;NA;SFN;stop_gained;NM_006142.3:c.661C>T;NP_006133.1:p.Gln221Ter;NA;0.5;2,2;Heterozygous
30;7;4:108829860;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;40;NA;SGMS2;stop_gained;NM_152621.5:c.867G>A;NP_689834.1:p.Trp289Ter;NA,NA;0.333333;4,2;Heterozygous
17;21;17:78187970;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;26.4;NA;SGSH;splice_donor_variant;NM_000199.3:c.663+1G>A;NA;Sanfilippo syndrome A (143);0.4;3,2;Heterozygous
24;27;22:40797680;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;27.8;NA;SGSM3;splice_donor_variant;NM_015705.5:c.90+1G>A;NA;Autism (4);0.285714;5,2;Heterozygous
23;26;7:101961804;GCCTGCTGGAGCGACTCGCCCGGCCAGCACTACTTCTCCAGCCTCGCCGCGGCCGCCTGCCCGCCTGCCTCGCCCTCCGACGCCGCCGGCGCCTCCTCGTCTTCCGCCTCGTCGTCCTCTGCCGCGTCGGGGCCCGCCCCCCCGCGCCCCGTCGAGGGCCAGCTCAGCGCGCGGAGCCGCAGCAACAGCGCCGAGC/-;NA;NA;NA;NA;NA;NA;42;NA;SH2B2;frameshift_variant;NM_020979.4:c.1497_1692del;NP_066189.3:p.Ser499Argfs*44;NA;0.4;3,2;Heterozygous
17;21;19:6754925;G/A;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;32;NA;SH2D3A;stop_gained;NM_005490.2:c.898C>T;NP_005481.2:p.Gln300Ter;NA;0.4;3,2;Heterozygous
9;15;9:130507223;TGTGGGAGGGGCTGGTGTGGGGGCCCTTGTCTGACTCCCCATGGGTCTTTGGGGCACTTCCGGGACACAGCTGGGGCTCACTGGAACGGCGGGCGACAGGGGAGGCAGGCAATGC/-;NA;NA;NA;NA;NA;NA;37;NA;SH2D3C;frameshift_variant;NM_170600.2:c.1306_1420del;NP_733745.1:p.Ala436Profs*52;NA;0.4;3,2;Heterozygous
32;8;4:2819968;GCGGCCGCGGAGCTGGGGCCGGCGGGAGGCGGGCGCCCGGGACGAGGCG/-;NA;NA;NA;NA;NA;NA;36;NA;SH3BP2;frameshift_variant;NM_001145856.1:c.23_71del;NP_001139328.1:p.Pro8Argfs*46;Cherubism (15);0.4;3,2;Heterozygous
28;6;6:146256444;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;39;NA;SHPRH;stop_gained;NM_001042683.2:c.2703G>A;NP_001036148.2:p.Trp901Ter;Colorectal cancer (1);0.5;2,2;Heterozygous
30;7;4:77661061;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;35;NA;SHROOM3;stop_gained;NM_020859.3:c.1735C>T;NP_065910.3:p.Gln579Ter;"Heterotaxy (3); Neural tube defects (2); Craniofacial microsomia (1); Leukaemia, risk, association with (1); Red blood cell traits, association with (1)";0.5;2,2;Heterozygous
9;15;11:65408520;CGAGGCCAGTCCGGGGCCCACTCCTGCGCAGCGGCAGCGATGCAGG/-;NA;NA;NA;NA;NA;NA;28.7;NA;SIPA1;frameshift_variant;NM_006747.3:c.137_182del;NP_006738.3:p.Val46Glyfs*115;Oestrogen receptor negative tumours, association with (1);0.5;2,2;Heterozygous
28;6;17:79875809;CGCTCCGCCGCCGCCTTCCTCAGGATGCGCGACACCTGCGGGCAGGCGGACGGTGAGCGGCGGCGCGGGCCGGGCATGGCCGGGCCGGGGAGCGGCGGCGGCGTACCTGGCGGAGGCGCTCCCTCTGCTGCTCCTCCCGCAACCTCCGGACC/-;NA;NA;NA;NA;NA;NA;36;NA;SIRT7;splice_acceptor_variant;NM_016538.2:c.48_93+106del;NP_057622.1:p.?;NA;0.666667;2,4;Heterozygous
33;8;5:54674315;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;SKIV2L2;splice_donor_variant;NM_015360.4:c.1983+1G>A;NA;NA;0.285714;5,2;Heterozygous
30;7;1:169435116;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;SLC19A2;stop_gained;NM_006996.2:c.1465C>T;NP_008927.1:p.Gln489Ter;"NA,NA,Megaloblastic anaemia, thiamine responsive (39); Diabetes, permanent neonatal (3); Megaloblastic anaemia, thiamine responsive, without diabetes (3); Diabetes mellitus, neonatal (1); Megaloblastic anaemia, thiamine responsive, with psychiatric manifestations (1)";0.5;2,2;Heterozygous
24;27;5:138714041;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;32;NA;SLC23A1;splice_acceptor_variant;NM_152685.3:c.1192-1G>A;NA;Bladder cancer, increased risk, association with (1);0.5;2,2;Heterozygous
33;8;9:19521017;C/-;NA;NA;NA;NA;NA;NA;9.432;NA;SLC24A2;frameshift_variant;NM_020344.3:c.1611delG;NP_065077.1:p.Thr538Profs*17;Retinal disease (3);0.4;3,2;Heterozygous
14;19;10:101379968;CCGGCCCCCCGGCCCACGCCCCGCTGCAGCCACCCGTCCAGCAGCGCCGACTCCCCGGGGCTCCGCCCGGGCCCTGCCGCCGGCCCCCCCGCCA/-;NA;NA;NA;NA;NA;NA;36;NA;SLC25A28;frameshift_variant;NM_031212.3:c.32_125del;NP_112489.3:p.Val11Alafs*48;NA;0.6;2,3;Heterozygous
24;27;9:136340592;GCCAGCGCCCGCAGGGCCTCTTCGTCCCTGCCCCGAGAGAGCAGGAAGCGCGGCGAGTTGGGCATGAAGCTGAGCAGCAGGATCATGATGAGCACAGGCGCCTCCCCGGCCACAGCCA/-;NA;NA;NA;NA;NA;NA;43;NA;SLC2A6;frameshift_variant;NM_017585.3:c.587_704del;NP_060055.2:p.Leu196Profs*47;NA;0.5;2,2;Heterozygous
9;15;1:153935089;CCAGGGCCCCCAACTTCACCTCCAGCCCCACAGGCACTGGAGGCTCTGAAGCTACCGCCTCGGGGCGCCACACCAGGAGCTCTGGCTCTCC/-;NA;NA;NA;NA;NA;NA;36;NA;SLC39A1;frameshift_variant;NM_014437.4:c.13_103del;NP_055252.2:p.Gly5Cysfs*35;NA,NA,NA;0.5;2,2;Heterozygous
33;8;2:217277372;G/C;NA;NA;3.19E-05;1;0;NA;15.82;NA;SMARCAL1;splice_donor_variant;NM_014140.3:c.-96+1G>C;NA;"Schimke immuno-osseous dysplasia (61); Nephrotic syndrome, steroid resistant (10); Immunodeficiency, primary (1); Nephrotic syndrome (1)";0.5;2,2;Heterozygous
30;7;9:106873892;G/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;40;NA;SMC2;stop_gained;NM_006444.2:c.1051G>T;NP_006435.2:p.Glu351Ter;NA;0.75;1,3;Heterozygous
8;15;6:7590526;GCGGCTGCAGGAGGAGCTGAACGAGTTCGTGGAGAGCGGCTGCCGGACGTTGGAGGAGGTGACCGCGTCCCTGGGCTGGGACCTAGATAGTCTGGATCCCGGGGAAGAGGAGGCGGCGGAGGTGAGGAGCGCGGCC/-;NA;NA;NA;NA;NA;NA;54;NA;SNRNP48;splice_donor_variant;NM_152551.3:c.40_156+19del;NP_689764.3:p.?;NA;0.75;2,6;Heterozygous
17;21;4:186241893;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;39;NA;SNX25;stop_gained;NM_001317781.1:c.859C>T;NP_001304710.1:p.Gln287Ter;NA;0.285714;5,2;Heterozygous
8;15;2:5833404;AGGCGGCCCAGTCCGGGGACTACGGGGGCGCGGGCGACGACTACGTGCTGGGCAGCCTGCGCGTGAGCGGCTCGGGCGGCGGCGGCGCG/-;NA;NA;NA;NA;NA;NA;36;NA;SOX11;frameshift_variant;NM_003108.3:c.551_639del;NP_003099.1:p.Lys184Argfs*11;"Coffin-Siris syndrome (12); Mental retardation, autosomal dominant (1)";0.5;2,2;Heterozygous
33;8;8:55372216;GCCCGGGGCGGGCGGCGGGCGCGGCTTCCAGATGCAGCCGCAACACCAGCACCAGCACCAGCACCAGCACCACCCCCCGG/-;NA;NA;NA;NA;NA;NA;39;NA;SOX17;frameshift_variant;NM_022454.3:c.910_989del;NP_071899.1:p.Gly304Argfs*34;"Congenital anomalies of the kidney and urinary tract (1); Stroke, association with (1)";0.285714;5,2;Heterozygous
2;10;17:4391138;G/-;NA;NA;NA;NA;NA;NA;7.787;NA;SPNS3;frameshift_variant;NM_182538.4:c.1489delG;NP_872344.3:p.Glu497Argfs;NA;0.285714;5,2;Heterozygous
2;10;11:66461823;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;SPTBN2;stop_gained;NM_006946.2:c.4290G>A;NP_008877.1:p.Trp1430Ter;"Spinocerebellar ataxia 5 (7); Cerebellar ataxia (2); Spinocerebellar ataxia 1, spectrin-associated (1); Spinocerebellar ataxia 5, infantile-onset (1); Spinocerebellar ataxia, infantile-onset, autosomal recessive (1)";0.333333;4,2;Heterozygous
17;21;15:42149785;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;38;NA;SPTBN5;stop_gained;NM_016642.3:c.8350C>T;NP_057726.4:p.Gln2784Ter;"Autism spectrum disorder (1); Cerebral visual impairment (1); Schizophrenia (1)";0.4;3,2;Heterozygous
30;7;9:94874800;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;SPTLC1;stop_gained;NM_006415.3:c.102G>A;NP_006406.1:p.Trp34Ter;"Neuropathy, hereditary sensory, type I (8); Neuropathy, motor and sensory, type 2 (1); Sensory and autonomic neuropathy (1)";0.5;2,2;Heterozygous
23;26;6:43139486;GCGGCGGCGGCGGGACACGCGGGGCTAACGGGGGCCGGGTCCCCGGGAATGGCGCGGGGCTCGGGCCCGGCCGCCTGGAGCGGGAGGCTGCGGCAGCGGCGGCAACCACCCCGGCGCCCACCGCGGGGGCCCTCTACAGCGGCAGCGAGGGCGACTCGGAGTCGGGCGAGGAGGAGGAGCTGGGCGCCGA/-;NA;NA;NA;NA;NA;NA;36;NA;SRF;frameshift_variant;NM_003131.3:c.98_287del;NP_003122.1:p.Gly33Alafs*3;NA;0.571429;3,4;Heterozygous
25;3;14:70234854;G/A;NA;NA;NA;NA;NA;NA;25.2;NA;SRSF5;splice_acceptor_variant;NM_006925.4:c.-19-1G>A;NA;NA;0.5;2,2;Heterozygous
2;10;19:18538160;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;25.2;NA;SSBP4;splice_acceptor_variant;NM_032627.4:c.60-1G>A;NA;NA;0.5;2,2;Heterozygous
9;15;8:38006103;CCCTCCAGGGAACCTCCTGCCAGCAGCACCAGGAGCCCAGAAGCCTCAGCACTTACCGAGTAGAGAGCTCCGCCGCCGAACCTGGTTAATCCACGTGCTAGGGGTGGGG/-;NA;NA;NA;NA;NA;NA;38;NA;STAR;splice_donor_variant;NM_000349.2:c.126_178+56del;NP_000340.2:p.?;"Congenital lipoid adrenal hyperplasia (56); Adrenal insufficiency, primary (5); Congenital lipoid adrenal hyperplasia, nonclassical (5); Adrenal failure without enzymatic defects (2); Adrenal insufficiency & 46,XY complete sex reversal (2); 46,XY disorder of sex development (1); Adrenal failure, neonatal (1); Adrenal insufficiency (1); Altered promoter activity (1); Disorder of sexual development (1); Increased cholesterol transfer into mitochondria (1); Reduced steroidogenesis, association with (1); XY sex reversal and congenital lipoid adrenal hyperplasia (1)";0.5;2,2;Heterozygous
22;26;17:37818454;CAGGGCCTCACTCTGTTCCAAAGTCCCCCCAATGATGCCTCTTTCCATAGGGGAGAGAATGGCCCTGGGGGCTTCATCGTGCTCAAGTCGGCCAGTAACCCCCGTGTTTGCACCTTTGTCTGGATTCTTAATACAGATCTCAAGGTGGGGTGCTGGGGGGCTGC/-;NA;NA;NA;NA;NA;NA;53;NA;STARD3;frameshift_variant;NM_006804.3:c.1140-46_1233+24del;NP_006795.3:p.Gly381Alafs;46,XY disorder of sex development (1);0.5;2,2;Heterozygous
9;15;4:26862923;CTGGCTCTGCCGCAACTGCCGCCTCCTCTCCCGCCGCGGCGGCCGGCGATAGCCCGGCGCTCATGACAGGTGAGGGGCCGGGGGGCGG/-;NA;NA;NA;NA;NA;NA;23.4;NA;STIM2;splice_donor_variant;NM_001169118.1:c.84_151+20del;NP_001162589.1:p.?;NA;0.5;2,2;Heterozygous
1;10;19:7707710;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;26.2;NA;STXBP2;splice_donor_variant;NM_006949.3:c.960+1G>A;NA;"Haemophagocytic lymphohistiocytosis type 5 (44); Haemophagocytic lymphohistiocytosis (8); Schizophrenia (6); Haemophagocytic lymphohistiocytosis type 5, atypical (1); Immunodeficiency, primary (1)";0.5;2,2;Heterozygous
32;8;8:70488160;CATGTGCTGCACTTTGCTAAACAATGCTGGCACTGTGCCTTTCAGGGTCCCTGCAAGTCATGAACAAAACGAGAAAGATTATGGAACATGGGGGGGCCACCTTCATCAATGCCTTTGTGACTACACC/-;NA;NA;NA;NA;NA;NA;39;NA;SULF1;splice_acceptor_variant;NM_015170.2:c.173-45_254del;NP_055985.2:p.?;"Mesomelia-synostoses syndrome (4); Hyperinsulinism (1)";0.5;2,2;Heterozygous
24;27;3:4461813;C/-;NA;NA;NA;NA;NA;NA;51;NA;SUMF1;frameshift_variant;NM_182760.3:c.537delG;NP_877437.2:p.Trp179Cysfs*5;"Multiple sulphatase deficiency (49); Autism spectrum disorder, association with (1); Inborn errors of metabolism (1)";0.333333;4,2;Heterozygous
24;27;9:32633516;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;35;NA;TAF1L;stop_gained;NM_153809.2:c.2062C>T;NP_722516.1:p.Gln688Ter;Amyotrophic lateral sclerosis (1);0.5;2,2;Heterozygous
24;27;20:60640361;CGGGCGGCCAGCGCGGCGGGGCCGGCGGGCTTGGCGGGGCCGGCGGGGGCGGGCTCGGGCCCCGCGGCGACGGCGGCGGCGGCGGGCACCGGGGCGCAGGACCCCGCGCTGCCCT/-;NA;NA;NA;NA;NA;NA;33;NA;TAF4;frameshift_variant;NM_003185.3:c.392_506del;NP_003176.2:p.Glu131Alafs*30;NA;0.4;3,2;Heterozygous
34;2;11:763945;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;27.7;NA;TALDO1;splice_donor_variant;NM_006755.1:c.835+1G>A;NA;Transaldolase deficiency (8);0.571429;12,16;Heterozygous
24;27;5:9629970;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;35;NA;TAS2R1;stop_gained;NM_019599.2:c.175C>T;NP_062545.1:p.Gln59Ter;NA;0.428571;4,3;Heterozygous
2;10;19:50383660;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;27.3;NA;TBC1D17;splice_donor_variant;NM_024682.2:c.319+1G>A;NA;NA,NA,NA,NA,NA,NA,NA,NA,NA,NA,NA;0.285714;5,2;Heterozygous
30;7;4:26622234;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;33;NA;TBC1D19;splice_acceptor_variant;NM_018317.3:c.219-1G>A;NA;NA;0.4;3,2;Heterozygous
8;15;17:80887225;CACTCTCTTGCAGGTCCGATGTGGCCTCCGTGAACTGGAGTGCACCTTCCCAGGCCTTCCCACGCATCACCCAGCTCCTTGGGCTGCCCACCTACCGCTACCACGTCCTGCTGGGGCTAGTCGTGTCCCTGGGCGGCTTGACGGAGTCGACGGTGAGGAGGCGTCGGGCTGGCTGGGGCAGGAGGTGGCTCCAGGAGTGCCTGGTGCTTC/-;NA;NA;NA;NA;NA;NA;12.4647;NA;TBCD;frameshift_variant;NM_005993.4:c.2853-12_2991+59del;NP_005984.3:p.Asp953Glyfs*11;"Encephalopathy, early-onset (8); Neurodegenerative encephalopathy, early-onset (6); Intellectual disability, seizures, tetraparaparesis & microcephaly (1); Plasma glucose concentration, association with (1)";0.5;2,2;Heterozygous
35;26;17:45786158;TG/-;NA;NA;NA;NA;NA;NA;14.75;NA;TBKBP1;frameshift_variant;NM_014726.2:c.1059_1060delTG;NP_055541.1:p.Ala354Profs*110;NA,NA,NA;0.266667;11,4;Heterozygous
30;7;11:124495800;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;TBRG1;splice_donor_variant;NM_032811.2:c.454+1G>A;NA;NA;0.285714;5,2;Heterozygous
23;26;7:45143821;CTGGGACACCTGGGTCTGGTGAAAGCTGAGTTTGCCTTCAGGACAGAGCAGATCACAGGGTTTAGCTGGAGAGAGTCAGCAATCACCCAGCAGCTCCACCCCACCTCAGCCTCGAGGTCTAGATATTTGATGTCTGTAACCAAATTTATCCCTGAGC/-;NA;NA;NA;NA;NA;NA;40;NA;TBRG4;splice_acceptor_variant;NM_001261834.1:c.941-122_975del;NP_001248763.1:p.?;NA,NA;0.5;2,2;Heterozygous
30;7;6:85466415;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;TBX18;splice_donor_variant;NM_001080508.2:c.771+1G>A;NA;"Congenital anomalies of the kidney and urinary tract (3); Ventricular septal defect (3); Autism (1)";0.333333;4,2;Heterozygous
9;15;2:85536151;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;TCF7L1;splice_acceptor_variant;NM_031283.2:c.1334-1G>A;NA;"Autism (1); Glaucoma, primary congenital (1)";0.5;2,2;Heterozygous
8;15;5:149754637;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;35;NA;TCOF1;stop_gained;NM_001135243.1:c.1399C>T;NP_001128715.1:p.Gln467Ter;"Treacher-Collins syndrome (294); Alzheimer disease, late-onset (16); Deafness (3); Hemifacial microsomia (3); Treacher-Collins syndrome with intellectual disability (2); Altered gene expression (1)";0.4;3,2;Heterozygous
24;27;13:61102879;C/-;NA;NA;NA;NA;NA;NA;35;NA;TDRD3;frameshift_variant;NM_001146070.1:c.1520delC;NP_001139542.1:p.Ser507Terfs;NA;0.333333;4,2;Heterozygous
24;27;8:442631;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;47;NA;TDRP;stop_gained;NM_001256113.1:c.326G>A;NP_001243042.1:p.Trp109Ter;NA;0.5;2,2;Heterozygous
17;21;14:20845596;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;42;NA;TEP1;stop_gained;NM_007110.4:c.5931G>A;NP_009041.2:p.Trp1977Ter;"Bladder cancer risk, association with (2); Male infertility, association with (1)";0.285714;5,2;Heterozygous
30;7;16:69395375;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;TERF2;stop_gained;NM_005652.4:c.1358G>A;NP_005643.2:p.Trp453Ter;NA;0.4;3,2;Heterozygous
14;19;12:117479775;TCCCCTCGTACACCTGATCAGGCTCCTGGGGACGGAAGCACAGGGTGGACAGTGAGTGGCGCAGGTCCCCACACAGCTTCCGCAGGGGGACGGTCCACTGGCC/-;NA;NA;NA;NA;NA;NA;54;NA;TESC;splice_acceptor_variant;NM_017899.3:c.520-78_544del;NP_060369.3:p.?;NA;0.5;2,2;Heterozygous
14;19;8:30699735;G/A;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;35;NA;TEX15;stop_gained;NM_031271.3:c.6799C>T;NP_112561.2:p.Gln2267Ter;"Male infertility (1); Schizophrenia (1)";0.333333;4,2;Heterozygous
17;21;6:41652741;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;41;NA;TFEB;stop_gained;NM_001167827.2:c.1069C>T;NP_001161299.2:p.Gln357Ter;NA;0.4;3,2;Heterozygous
24;27;6:169626162;CTGGTCAGGGTTGTGCACCAGGGGCAGTTGTCACAGTGATCCCCCACACCGCCACCGTCCCCGCGTCCCTCTGATGAGGACCTCCAACCCCGCCTGTCTGCGGCTGCCCTCAC/-;NA;NA;NA;NA;NA;NA;34;NA;THBS2;splice_donor_variant;NM_003247.3:c.2538+1_2538+113del;NA;"Lumbar-disc herniation, association with (1); Myocardial infarction, protection, association (1)";0.5;2,2;Heterozygous
30;7;7:11441482;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;50;NA;THSD7A;stop_gained;NM_015204.2:c.4351C>T;NP_056019.1:p.Gln1451Ter;Autism (1);0.4;3,2;Heterozygous
24;27;9:82323642;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;41;NA;TLE4;stop_gained;NM_001282748.1:c.1300C>T;NP_001269677.1:p.Gln434Ter;NA;0.4;3,2;Heterozygous
24;27;10:98240155;T/-;NA;NA;NA;NA;NA;NA;14.58;NA;TLL2;frameshift_variant;NM_012465.3:c.237delA;NP_036597.1:p.Ala80Profs*105;NA;0.333333;4,2;Heterozygous
32;8;1:93620323;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;40;NA;TMED5;stop_gained;NM_016040.4:c.594G>A;NP_057124.3:p.Trp198Ter;HDL cholesterol, association with (1);0.5;2,2;Heterozygous
17;21;17:42089369;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;42;NA;TMEM101;stop_gained;NM_032376.3:c.701G>A;NP_115752.1:p.Trp234Ter;NA;0.4;3,2;Heterozygous
26;4;19:47549334;GCTGCCCCATGTAGAGGCCCACGGCGCACGCCCAGAGCAGGCTGGCGGCCAGCACGGCGCCCGCGCCCACGGCCGCGCCCCCCAGCGTCAGCTGCATGGGTCCTCGCAGCGCCGCCAGGCCCACGGCGTACGAGGC/-;NA;NA;NA;NA;NA;NA;45;NA;TMEM160;frameshift_variant;NM_017854.1:c.343_478del;NP_060324.1:p.Ala115Trpfs*49;NA;0.4;3,2;Heterozygous
17;21;1:9670762;GCAGCTCCGATGAGCACTCGCCTCACAACGGCAGCCTCTTCACCATGGAGCCGCCCCATGTTCCCCGGAAGCCGCCCCTGCAGGACGTGAAGCACGCCCT/-;NA;NA;NA;NA;NA;NA;37;NA;TMEM201;frameshift_variant;NM_001130924.2:c.1665_1764del;NP_001124396.2:p.Ser555Argfs*3;Schizophrenia (1);0.333333;4,2;Heterozygous
8;15;1:212553244;G/-;NA;NA;0.00200611;63;1;NA;34;NA;TMEM206;frameshift_variant;NM_001198862.1:c.814delC;NP_001185791.1:p.Leu272Cysfs*7;NA;0.5;2,2;Heterozygous
17;21;18:20956790;C/T;NA;NA;NA;NA;NA;NA;4.895;NA;TMEM241;splice_donor_variant;NM_032933.5:c.383+820G>A;NA;Increased triglyceride levels, association with (1);0.285714;5,2;Heterozygous
25;3;14:21570898;GCTGCAGGAGCCAGAGTCTGCACTATCAAGA/-;NA;NA;NA;NA;NA;NA;41;NA;TMEM253,ZNF219;frameshift_variant;NM_001146683.1:c.504_534del,NM_001102454.1:c.-84+1742_-84+1772del;NP_001140155.1:p.Ser168Argfs,;NA,NA;0.5;2,2;Heterozygous
8;15;19:1010442;TG/-;NA;NA;NA;NA;NA;NA;3.068;NA;TMEM259;frameshift_variant;NM_001033026.1:c.1769_1770delCA;NP_001028198.1:p.Ala590Glyfs*3;NA;0.5;2,2;Heterozygous
30;7;11:9335908;CGTCCCCGCTGCCC/-;NA;NA;NA;NA;NA;NA;16.87;NA;TMEM41B;frameshift_variant;NM_015012.3:c.68_81delGGGCAGCGGGGACG;NP_055827.1:p.Gly23Alafs*46;NA;0.4;3,2;Heterozygous
17;21;11:129725777;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;49;NA;TMEM45B;stop_gained;NM_138788.4:c.560G>A;NP_620143.1:p.Trp187Ter;NA;0.4;3,2;Heterozygous
17;21;19:18727875;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;39;NA;TMEM59L;stop_gained;NM_012109.2:c.627G>A;NP_036241.1:p.Trp209Ter;NA;0.285714;5,2;Heterozygous
22;26;17:7460115;GGCTGGGAGGAAGCCAGAATCAACAGCTCCAGCCCTCTGCGCTACAACCGCCAGATCGGGGAGTTTATAGTCACCCGGGCTGGGCTCTACTACCTGTACTGTCAGGTAAGCCCCATCTGGCTGCATGGGTAACGCAGTAAGAGAGTGGCGAAGGGTTTGCCAGGAGAGTGGGGGACAAGCTACAG/-;NA;NA;NA;NA;NA;NA;42;NA;TNFSF12,TNFSF12-TNFSF13;splice_donor_variant;NM_003809.2:c.404_498+90del,NM_172089.3:c.404_498+90del;NP_003800.1:p.?,NP_742086.1:p.?;Antibody deficiency (1),NA;0.75;1,3;Heterozygous
24;27;3:170805241;G/-;NA;NA;NA;NA;NA;NA;24.9;NA;TNIK;frameshift_variant;NM_015028.3:c.2776delC;NP_055843.1:p.His926Thrfs*98;Intellectual disability (1);0.333333;4,2;Heterozygous
30;7;1:175087961;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;32;NA;TNN;splice_donor_variant;NM_022093.1:c.2650+1G>A;NA;NA,NA,Microcephaly and intellectual disability (1);0.4;3,2;Heterozygous
2;10;5:72187636;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;TNPO1;splice_acceptor_variant;NM_002270.3:c.1702-1G>A;NA;NA;0.285714;5,2;Heterozygous
30;7;7:128619039;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;52;NA;TNPO3;stop_gained;NM_012470.3:c.2059C>T;NP_036602.1:p.Gln687Ter;"Muscular dystrophy, limb girdle 1F (2); Schizophrenia (1)";0.333333;4,2;Heterozygous
2;10;7:5430179;GGGGGCTCCCACTGCTG/-;NA;NA;NA;NA;NA;NA;28.1;NA;TNRC18;frameshift_variant;NM_001080495.2:c.408_424del;NP_001073964.2:p.Ser137Profs*118;"Autism spectrum disorder (1); Schizophrenia (1)";0.5;2,2;Heterozygous
30;7;2:218712446;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;TNS1;stop_gained;NM_022648.5:c.2419C>T;NP_072174.3:p.Gln807Ter;Lung cancer (2);0.4;3,2;Heterozygous
25;3;19:45397055;GGTGACATGGACAACAGTGGCAGTCTCAACGCTCAGGTCATTCACCAGCTGGGCCCCGGTCTCAGGTCCAAGATGGCCATCCAGGTGAGTGGGGCACGGAGGCTGCTGCTCCCCTCGGCCACCGTGAGCAGGGAGCCGCCCTCACACCCCCTCCTCTCCACAGACCCAGCAGTCGAAGTTTGTGAACTGGCA/-;NA;NA;NA;NA;NA;NA;16.7782;NA;TOMM40;splice_acceptor_variant;NM_006114.2:c.454_537+108del;NP_006105.1:p.?;"Alzheimer disease, late-onset, association with (1); Reduced vocabulary ability, association with (1)";0.5;2,2;Heterozygous
32;8;17:38555311;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;45;NA;TOP2A;stop_gained;NM_001067.3:c.3269G>A;NP_001058.2:p.Trp1090Ter;Congenital heart disease (1);0.5;2,2;Heterozygous
30;7;1:179064219;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;40;NA;TOR3A;stop_gained;NM_022371.3:c.1060C>T;NP_071766.2:p.Gln354Ter;NA,NA,NA;0.4;3,2;Heterozygous
24;27;11:18045434;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;TPH1;splice_donor_variant;NM_004179.2:c.1026+1G>A;NA;"Attention deficit hyperactivity disorder (7); Attention deficit hyperactivity disorder, persistent (1); Depression, association with (1); Irritable bowel syndrome, diarrhoea predominant, association with (1)";0.333333;4,2;Heterozygous
16;21;1:186319495;-/C;NA;NA;NA;NA;NA;NA;26.5;NA;TPR;frameshift_variant;NM_003292.2:c.2636_2637insG;NP_003283.2:p.Leu880Thrfs*10;"NA,NA,NA,Follicular thyroid cancer (1); Schizophrenia (1)";0.5;2,2;Heterozygous
24;27;2:73959713;G/A;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;2.169;NA;TPRKB;stop_gained;NM_001330386.1:c.256C>T;NP_001317315.1:p.Gln86Ter;NA;0.333333;4,2;Heterozygous
14;19;19:48305623;GATTGGGCCTGAGATTGGGCCTGGGATCG/-;NA;NA;NA;NA;NA;NA;18.82;NA;TPRX1;frameshift_variant;NM_198479.2:c.617_645del;NP_940881.2:p.Pro206Leufs*165;NA;0.4;3,2;Heterozygous
11;17;17:15554580;TGCAGTTTGATGTTCACCTGATGCGGCTGCAAGTGCTCTTCACAGTAATTCACCATGCAGGTTAGACAGGACTTCACTGCCTTCACTCTTCTGGTGTCATCAAGGCAGAAGTCACACAGGACCTCTTTCCCCTCACCAGCAGGATCCCCCTGCTC/-;NA;NA;NA;NA;NA;NA;40;NA;TRIM16;frameshift_variant;NM_006470.4:c.190_344del;NP_006461.3:p.Glu64Lysfs*30;NA;0.333333;4,2;Heterozygous
30;7;11:6472499;ACCTTGAACTTGCCCTCAGGGGAGAAGATGCTGACCCAACGGTTGTCATAGTCTGCCACAATTATGTCTCCATTGGTGTCCACTGCCACACCTGTGGGGCGCTGCAGCTGCCCAGGTGAGCGTCCTCGGACCCCAAAACGG/-;NA;NA;NA;NA;NA;NA;22.9585;NA;TRIM3;splice_donor_variant;NM_006458.3:c.1563_1701+2del;NP_006449.2:p.?;NA;0.333333;4,2;Heterozygous
33;8;11:101347256;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;49;NA;TRPC6;stop_gained;NM_004621.5:c.1520G>A;NP_004612.2:p.Trp507Ter;"Focal segmental glomerulosclerosis (19); Autism (11); Nephrotic syndrome, steroid resistant (7); Pyloric stenosis, infantile hypertrophic, association with (2); Collapsing glomerulosclerosis (1); Podocytopathy (1); Pulmonary arterial hypertension, association with (1)";0.333333;4,2;Heterozygous
17;21;11:63993260;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;TRPT1;stop_gained;NM_001160389.1:c.73C>T;NP_001153861.1:p.Gln25Ter;NA;0.285714;5,2;Heterozygous
25;3;8:143352915;AAGCAGGTGGGGAGGGTGAGGAGGTGGGTGCGTGGAAGACTCCTCGTAAGTCCAGGGGGTCAGTTTCAGGCAGGCTGGGCCCTTCCAGGGACCTCAGGGGCAGCCAC/-;NA;NA;NA;NA;NA;NA;16.69;NA;TSNARE1;stop_lost;NM_145003.4:c.1446+3121_1446+3227del;NA;Epilepsy (2);0.5;2,2;Heterozygous
17;21;16:67859576;G/-;NA;NA;0.00185043;58;0;NA;34;NA;TSNAXIP1;frameshift_variant;NM_001288990.1:c.826delG;NP_001275919.1:p.Glu276Argfs*4;NA;0.5;3,3;Heterozygous
9;15;17:56396653;GGCCTGGGCCAAGACCCACCATGAGCCGCCAGGCCCCTCAAAGCTACCCAGTGCCAGCCCGTGCCATCTGTACACAGCCCTACACTGGGTTTCAGGTCATATCCATCCACCCAGCCCCA/-;NA;NA;NA;NA;NA;NA;32;NA;TSPOAP1;splice_acceptor_variant;NM_004758.3:c.1495-116_1497del;NP_004749.2:p.=;NA,NA,NA;0.75;1,3;Heterozygous
17;21;22:28501468;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;41;NA;TTC28;stop_gained;NM_001145418.1:c.3106C>T;NP_001138890.1:p.Gln1036Ter;"Schizophrenia (1); Skeletal dysplasia with multiple joint dislocation (1)";0.285714;5,2;Heterozygous
14;19;5:94803659;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;46;NA;TTC37;stop_gained;NM_014639.3:c.4531C>T;NP_055454.1:p.Gln1511Ter;"Trichohepatoenteric syndrome (34); Fatigue, failure to thrive & diarrhoea (1); Inflammatory bowel disease (1)";0.5;2,2;Heterozygous
26;4;2:47278797;CCCCATGGTGCTGGGCAATGACTGCTCCTGGGGCCTGCAACGTGTGGACCTCTGACCACTGCTCGGCTCGTGCCCTCTTGCTCTGCAGGCTCCCGGCGGGCTTCGTCCATCGCCGCCTCCCGGCTGGAGGAGGCCATGTCAGAGCTGACTATGCCCTCTTCGGTCCTGAAGCAGGG/-;NA;NA;NA;NA;NA;NA;54;NA;TTC7A;splice_acceptor_variant;NM_020458.3:c.2018-88_2105del;NP_065191.2:p.?;"Immunodeficiency, combined, with intestinal atresias (14); Multiple intestinal atresia (14); Inflammatory bowel disease, very early onset (8); Immune deficiency-related enteropathy-lymphocytopaenia-alopecia syndrome (2); IPEX-like syndrome (1)";0.285714;5,2;Heterozygous
14;19;2:113251777;T/G;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;TTL;stop_gained;NM_153712.4:c.294T>G;NP_714923.1:p.Tyr98Ter;NA;0.5;2,2;Heterozygous
2;10;22:43570222;-/C;NA;NA;NA;NA;NA;NA;45;NA;TTLL12;frameshift_variant;NM_015140.3:c.1222dupG;NP_055955.1:p.Glu408Glyfs*82;NA;0.6;2,3;Heterozygous
8;15;22:50658720;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;36;NA;TUBGCP6;stop_gained;NM_020461.3:c.4068G>A;NP_065194.2:p.Trp1356Ter;"Microcephaly, growth failure & retinopathy (4); Microcephaly with chorioretinopathy (1); Primordial dwarfism with retinopathy (1)";0.4;3,2;Heterozygous
8;15;8:15531283;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;46;NA;TUSC3;stop_gained;NM_006765.3:c.736C>T;NP_006756.2:p.Gln246Ter;"Mental retardation, non-syndromic, autosomal recessive (4); Intellectual disability & autism (2); Intellectual disability, nonsyndromic, autosomal recessive (2); Attention deficit hyperactivity disorder (1); Intellectual disability and dysmorphic features (1); Intellectual disability with developmental delay (1); Intellectual disability, syndromic (1); Neurodegenrative disease with blindness (1)";0.5;2,2;Heterozygous
23;26;19:34960124;T/C;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;16.16;NA;UBA2;stop_lost;NM_005499.2:c.1921T>C;NP_005490.1:p.Ter641Argext*31;Aplasia cutis congenita, Duane anomaly & hip dysplasia (1);0.4;3,2;Heterozygous
24;27;3:23631254;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;39;NA;UBE2E2;stop_gained;NM_152653.3:c.538C>T;NP_689866.1:p.Gln180Ter;NA,Multiple sclerosis, susceptibility to, association with (1);0.333333;4,2;Heterozygous
33;8;19:59069639;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;UBE2M;splice_donor_variant;NM_003969.3:c.109+1G>A;NA;NA;0.5;2,2;Heterozygous
2;10;1:64676468;C/-;NA;NA;0.000191131;6;0;NA;22.1;NA;UBE2U;frameshift_variant;NM_152489.2:c.287delC;NP_689702.1:p.Pro96Leufs*10;NA;0.285714;10,4;Heterozygous
23;26;17:42287754;CGGGCAGCTTGCCCCGTTCCTCGCGCTCCCCGCCGGGCTTCCTCTCCGACTGAGCCTTGAGCGCCGCCTCTCGGGCCTTGTACTTGGCCTGCGGGGATGGCCCGGGCGTCAGCCTTCCACCCACCCCCAGGGGGCGCGCGCTCCC/-;NA;NA;NA;NA;NA;NA;43;NA;UBTF;splice_acceptor_variant;NM_014233.3:c.1360-57_1447del;NP_055048.1:p.?;Red blood cell traits, association with (1);0.5;2,2;Heterozygous
17;21;20:62572070;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;26.9;NA;UCKL1;splice_acceptor_variant;NM_017859.3:c.1180-1G>A;NA;NA;0.285714;5,2;Heterozygous
30;7;6:96971142;G/-;NA;NA;NA;NA;NA;NA;20.2;NA;UFL1;frameshift_variant;NM_015323.4:c.198delG;NP_056138.1:p.Met66Ilefs*12;Schizophrenia (1);0.5;2,2;Heterozygous
14;19;13:96505796;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;UGGT2;splice_donor_variant;NM_020121.3:c.4284+1G>A;NA;NA;0.333333;4,2;Heterozygous
33;8;15:75129574;G/A;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;40;NA;ULK3;stop_gained;NM_001099436.3:c.1414C>T;NP_001092906.3:p.Gln472Ter;NA;0.5;2,2;Heterozygous
24;27;3:41723018;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;43;NA;ULK4;stop_gained;NM_017886.3:c.2959C>T;NP_060356.2:p.Arg987Ter;"Adenomatous polyposis coli (4); Thoracic aortic aneurysms and dissections (3); Schizophrenia (2); Blood pressure, association with (1); Multiple myeloma, increased risk (1); Multiple sessile serrated adenoma (1)";0.333333;4,2;Heterozygous
16;21;21:43547351;AGGTAGGGCTCAGGAGTGCAGGCACCCCCATCCAGCAATGCCTGGGGCTTTATTAACAATAGGTAGGGCTCAAGAATGCAGACATCCCCATCCAGCAATGCCCAGGGCTTCATTAACAAT/-;NA;NA;NA;NA;NA;NA;3.7834;NA;UMODL1;splice_donor_variant;NM_173568.3:c.3913_3914+118del;NP_775839.3:p.=;NA;0.5;2,2;Heterozygous
17;21;2:210841019;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;50;NA;UNC80;stop_gained;NM_032504.1:c.8566C>T;NP_115893.1:p.Gln2856Ter;"Intellectual disability, severe with hypotonia, encephalopathy and growth retardation (4); Encephalopathy, infantile, autosomal recessive (3); Spastic paraplegia, global developmental delay, and failure to thrive (2); Autism (1); Autism spectrum disorder (1); Hypotonia, severe intellectual disability, dyskinesia and dysmorphism (1)";0.5;2,2;Heterozygous
24;27;21:33735471;C/-;NA;NA;NA;NA;NA;NA;11.39;NA;URB1;frameshift_variant;NM_014825.2:c.1503delG;NP_055640.2:p.Ser502Alafs*7;Schizophrenia (1);0.333333;4,2;Heterozygous
23;26;11:113746149;CGCCGCCGCGGAGCCCACCGAGCCGTGGCCGTCTGCCG/-;NA;NA;NA;NA;NA;NA;36;NA;USP28;splice_donor_variant;NM_001346252.1:c.38_57+18del;NP_001333181.1:p.?;NA;0.5;2,2;Heterozygous
2;10;6:149340373;G/C;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;UST;splice_donor_variant;NM_005715.2:c.779+1G>C;NA;NA;0.285714;5,2;Heterozygous
9;15;11:118942330;T/-;NA;NA;NA;NA;NA;NA;22.9;NA;VPS11;frameshift_variant;NM_021729.5:c.658delT;NP_068375.3:p.Tyr220Thrfs*18;"Hypomyelination & developmental delay (1); Lysosomal storage disease (1); Schizophrenia (1)";0.333333;4,2;Heterozygous
23;26;17:40925564;AGAAGCACCGCTGTGCCTCCCTCCCCTCCCCCGGACCCTGGGCTCAGCCCTGATGCTTCATATGGGGAGGGGGAGAAAAGACCCGTCGGCCAACACCCTCAGTCCCTTACTTTCTTCCTGAAATGCGTCCCGGGCAAGTGCTGCCTCCCGCCCTCTAATTCTGCGCCCCACTCCCTTCACCCGGCAGGTTACAACCGAATGTGGACACTCGGC/-;NA;NA;NA;NA;NA;NA;15.6706;NA;VPS25;splice_acceptor_variant;NM_032353.3:c.54-180_86del;NP_115729.1:p.?;NA;0.375;5,3;Heterozygous
32;8;15:42476757;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;VPS39;stop_gained;NM_001301138.1:c.709C>T;NP_001288067.1:p.Gln237Ter;Schizophrenia (2);0.5;2,2;Heterozygous
28;6;14:97312502;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;28.2;NA;VRK1;splice_donor_variant;NM_003384.2:c.286+1G>A;NA;"Amyotrophic lateral sclerosis (4); Motor and sensory axonal neuropathy plus microcephaly (2); Pontocerebellar hypoplasia (1); Spinal muscular atrophy with pontocerebellar hypoplasia (1)";0.5;2,2;Heterozygous
14;19;14:74726486;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;34;NA;VSX2;splice_donor_variant;NM_182894.2:c.760+1G>A;NA;"Microphthalmia, cataract and iris abnormality (4); Microphthalmia (3); Anophthalmia / microphthalmia (2); Anophthalmia, bilateral (1); Glaucoma, primary angle-closure (1); Lens subluxation & retinal dysfunction (1); Microphthalmia, bilateral & coloboma (1)";0.5;2,2;Heterozygous
17;21;1:1375029;G/-;NA;NA;NA;NA;NA;NA;11.99;NA;VWA1;frameshift_variant;NM_022834.4:c.1201delG;NP_073745.2:p.Val401Terfs;NA;0.285714;5,2;Heterozygous
23;26;6:170052025;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;24.6;NA;WDR27;splice_donor_variant;NM_182552.4:c.1481+1G>A;NA;NA;0.4;3,2;Heterozygous
17;21;2:128526563;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;38;NA;WDR33;stop_gained;NM_018383.4:c.217C>T;NP_060853.3:p.Gln73Ter;NA;0.4;3,2;Heterozygous
17;21;7:158695172;G/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;38;NA;WDR60;stop_gained;NM_018051.4:c.1243G>T;NP_060521.4:p.Glu415Ter;"Jeune asphyxiating thoracic dystrophy (1); Jeune syndrome (1); Short-rib polydactyly (1); Short-rib polydactyly and Jeune syndrome (1)";0.4;3,2;Heterozygous
33;8;15:78587297;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;WDR61;stop_gained;NM_025234.2:c.31C>T;NP_079510.1:p.Gln11Ter;NA;0.285714;5,2;Heterozygous
2;10;1:67299675;A/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;35;NA;WDR78;stop_gained;NM_024763.4:c.1890T>A;NP_079039.4:p.Tyr630Ter;NA;0.444444;5,4;Heterozygous
2;10;7:151106551;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;40;NA;WDR86;stop_gained;NM_001284260.1:c.125G>A;NP_001271189.1:p.Trp42Ter;NA,NA;0.5;2,2;Heterozygous
17;21;8:134203408;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;40;NA;WISP1;stop_gained;NM_003882.3:c.21G>A;NP_003873.1:p.Trp7Ter;NA;0.5;2,2;Heterozygous
33;8;5:167850625;G/-;NA;NA;NA;NA;NA;NA;11.51;NA;WWC1;frameshift_variant;NM_001161661.1:c.1363delG;NP_001155133.1:p.Asp455Thrfs*77;Improved memory performance, association with (3);0.5;2,2;Heterozygous
25;3;8:87470189;-/TA;NA;NA;NA;NA;NA;NA;31;NA;WWP1;frameshift_variant;NM_007013.3:c.2434_2435insAT;NP_008944.1:p.Trp812Tyrfs*25;Obsessive-compulsive disorder (1);0.5;2,2;Heterozygous
33;8;20:30584546;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;40;NA;XKR7;stop_gained;NM_001011718.1:c.1026G>A;NP_001011718.1:p.Trp342Ter;NA;0.5;2,2;Heterozygous
25;3;2:61719312;TCCTGGACTCCATCATGGGTCTCTAACAAGACAAAAATATTCATTTATTTTG/-;NA;NA;NA;NA;NA;NA;42;NA;XPO1;splice_acceptor_variant;NM_003400.3:c.1724-30_1745del;NP_003391.1:p.=;Autism (1);0.5;2,2;Heterozygous
26;4;19:44057059;GGCTGAGGGGATGGGGATGGATTGAGGCCTCCAGCTTCTCTCCTCCTCCACCCCACCAAAGTCTGATGATTTCACCTTGGAGGTGCTGCCTATGGCCCTGGAGACTGGAGA/-;NA;NA;NA;NA;NA;NA;11.4117;NA;XRCC1;splice_acceptor_variant;NM_006297.2:c.676_711+75del;NP_006288.2:p.?;"Increased lung cancer risk, association with (3); Cerebellar ataxia (2); Head and neck cancer, association with (2); Benign breast disease, association with (1); Breast cancer, increased risk, association with (1); Head and neck cancer (1)";0.5;3,3;Heterozygous
24;27;20:21314758;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;38;NA;XRN2;stop_gained;NM_001317960.1:c.1402C>T;NP_001304889.1:p.Gln468Ter;Autism spectrum disorder (1);0.5;2,2;Heterozygous
8;15;17:7366546;G/-;NA;NA;NA;NA;NA;NA;0.08;NA;ZBTB4;frameshift_variant;NM_020899.3:c.1755delC;NP_065950.2:p.Thr586Glnfs*23;NA;0.333333;4,2;Heterozygous
7;14;18:60242056;TTCCTACCCCTTACCAGGCTCTCCCCTTGCTGCCGGCGTGTTACCCAGCCAGAACTCCAGTGTGCTCAGCACAGCAGCAACTTCTCCCCAGCCAGCGAGCGCAGGTATCAGCCAGGCCCAGGCAACTGTTCCTCCTGCAG/-;NA;NA;NA;NA;NA;NA;44;NA;ZCCHC2;frameshift_variant;NM_017742.5:c.2751_2890del;NP_060212.4:p.Leu918Hisfs*20;NA;0.5;2,2;Heterozygous
33;8;3:28454797;G/-;NA;NA;NA;NA;NA;NA;36;NA;ZCWPW2;frameshift_variant;NM_001040432.3:c.238delG;NP_001035522.1:p.Glu80Lysfs*25;NA;0.333333;4,2;Heterozygous
8;15;8:17014343;CGCCATCCAGCTGTGCATAGGTGAGTGCGCCCCCCGCCGCGGCGCCCCCAGCGCAGCGCAGCCCACCCCGACTGTCCCGGGACGCTCAGCCGCTCCTCCGCTCTCGCCCCCCGGATGCGCCCCGGGCGCTGCCAACCTGCCGCGTCCCGCCGGCTCCGCCGCTAAAAGCAGCCTCGGGGCAGCTTCTTCCACGCGCACGCCCCTCGCCCTCCCCTCCCAACTCTCGGGTTAAGGTGGCGCCTC/-;NA;NA;NA;NA;NA;NA;9.17863;NA;ZDHHC2;splice_donor_variant;NM_016353.4:c.115_130+227del;NP_057437.1:p.?;NA;0.571429;3,4;Heterozygous
33;8;3:113667656;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;35;NA;ZDHHC23;stop_gained;NM_001320466.1:c.7C>T;NP_001307395.1:p.Gln3Ter;NA;0.333333;4,2;Heterozygous
24;27;2:220073983;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;28.3;NA;ZFAND2B;splice_acceptor_variant;NM_138802.2:c.730-1G>A;NA;NA;0.333333;4,2;Heterozygous
30;7;20:45867802;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;39;NA;ZMYND8;stop_gained;NM_001281775.2:c.2365C>T;NP_001268704.1:p.Gln789Ter;NA;0.4;3,2;Heterozygous
14;19;19:9678323;C/T;NA;NA;NA;NA;NA;0 of 6 Predicted as Damaging;4.294;NA;ZNF121;splice_donor_variant;NM_001008727.3:c.3+448G>A;NA;NA;0.333333;4,2;Heterozygous
33;8;1:247320105;G/T;NA;NA;0.00458745;144;2;1 of 6 Predicted as Damaging;23.9;NA;ZNF124;stop_gained;NM_001297568.1:c.819C>A;NP_001284497.1:p.Tyr273Ter;NA;0.272727;8,3;Heterozygous
17;21;5:43139357;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;39;NA;ZNF131;stop_gained;NM_001297548.2:c.317G>A;NP_001284477.1:p.Trp106Ter;NA;0.285714;5,2;Heterozygous
8;15;11:9494317;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;33;NA;ZNF143;splice_donor_variant;NM_003442.5:c.205+1G>A;NA;"Inborn error of cobalamin metabolism (2); Psoriasis, association with (1)";0.4;3,2;Heterozygous
8;15;8:146157602;G/A;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;35;NA;ZNF16;stop_gained;NM_006958.2:c.571C>T;NP_008889.2:p.Gln191Ter;NA;0.5;2,2;Heterozygous
30;7;9:104169776;ATCCTCCCACCTCAGCTACCTGAGTAGCTGGGACTACAGGTGTGTACCACCATGTCTGGCTAATTAAAAAAAAATTTTTTTTTTGTAGAGATGAAGTCTCACTGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGTG/-;NA;NA;NA;NA;NA;NA;8.562;NA;ZNF189;splice_donor_variant;NM_003452.3:c.161-435_161-296del;NA;NA;0.333333;4,2;Heterozygous
2;10;18:74592096;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;36;NA;ZNF236;stop_gained;NM_001306089.1:c.1012C>T;NP_001293018.1:p.Gln338Ter;Bicuspid aortic valve (1);0.285714;5,2;Heterozygous
25;3;19:22271686;A/-;NA;NA;NA;NA;NA;NA;1.619;NA;ZNF257;frameshift_variant;NM_033468.3:c.1137delA;NP_258429.2:p.Ala380Profs*44;Reduced expression (1);0.5;2,2;Heterozygous
9;15;22:22843517;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;34;NA;ZNF280B;stop_gained;NM_080764.3:c.207G>A;NP_542942.2:p.Trp69Ter;NA;0.5;2,2;Heterozygous
17;21;19:9268655;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;23.7;NA;ZNF317;splice_acceptor_variant;NM_020933.4:c.290-1G>A;NA;NA;0.4;3,2;Heterozygous
24;27;16:58030672;-/C;NA;NA;NA;NA;NA;NA;23.3;NA;ZNF319;frameshift_variant;NM_020807.2:c.1498dupG;NP_065858.1:p.Asp500Glyfs;NA;0.5;2,2;Heterozygous
33;8;19:58982526;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;29.9;NA;ZNF324;stop_gained;NM_014347.2:c.667C>T;NP_055162.1:p.Arg223Ter;NA;0.4;3,2;Heterozygous
25;3;19:58640266;-/C;NA;NA;NA;NA;NA;NA;17.83;NA;ZNF329;frameshift_variant;NM_024620.3:c.605_606insG;NP_078896.3:p.Tyr203Ilefs*2;NA;0.5;2,2;Heterozygous
5;13;19:58438314;-/C;NA;NA;NA;NA;NA;NA;12.72;NA;ZNF418;frameshift_variant;NM_001317027.1:c.1298_1299insG;NP_001303956.1:p.His433Glnfs*3;NA;0.5;2,2;Heterozygous
14;19;20:62595887;CCTGCAGCCTTCAGTGCCTCCATGCCCCCTGACGGCCTGCTGCCTGGCGACAAGGAGCCACTGCTGGTGTCTGCACTCAGCTGGAAGGCCGAGCTCTGGCCCATGGAGGAGGGGCCGTACTCCCCATTCTCTGGCCTGGCCTGCTTGGGTGGAATTGGGCAGGTGTCCAGGCTGTCCGCAGC/-;NA;NA;NA;NA;NA;NA;40;NA;ZNF512B;frameshift_variant;NM_020713.2:c.1036_1217del;NP_065764.1:p.Ala346Profs*6;"Amyotrophic lateral sclerosis, sporadic (5); Amyotrophic lateral sclerosis, susceptibility to (1)";0.4;3,2;Heterozygous
14;19;2:27601818;GGCTGGCTCCTCAACTTCACTCTCCGCACTTAGTGCCCGGCCGCCCCCAGACTCATCGTCGCTCAGCCCATAGGGAAGCCCAG/-;NA;NA;NA;NA;NA;NA;36;NA;ZNF513;frameshift_variant;NM_144631.5:c.233_315del;NP_653232.3:p.Pro78Glnfs*9;Retinitis pigmentosa, autosomal recessive (1);0.333333;4,2;Heterozygous
8;15;19:9452712;T/-;NA;NA;NA;NA;NA;NA;9.677;NA;ZNF559,ZNF559-ZNF177;frameshift_variant;NM_001202406.1:c.778delT,NM_001172650.2:c.-391+3455delT;NP_001189335.1:p.Ser260Profs*9,;Autism spectrum disorder (1),NA;0.5;2,2;Heterozygous
30;7;19:58290643;GGAGAGAGGCCTTATGAGTGCAGTGAATGTGGGAGATCCTTTGCTGAAAACTCCAGTCTTATTAAACACTTGAGAGTTCACACA/-;NA;NA;NA;NA;NA;NA;13.5473;NA;ZNF586;stop_lost;NM_017652.3:c.693_776del;NP_060122.2:p.Ser237_Cys264del;NA;0.4;3,2;Heterozygous
24;27;17:16553041;G/-;NA;NA;NA;NA;NA;NA;10.4;NA;ZNF624;frameshift_variant;NM_020787.3:c.18delC;NP_065838.2:p.Thr7Leufs*23;Lung cancer, susceptibility to, association with (1);0.333333;4,2;Heterozygous
24;27;19:11728590;TGGGAAAGCCTTCAGTCGATCCACTTACTTTCGAGTACATGAAAAAATTCATACTGGAGAGAAACCCTATGAGAACCCTAACCCTAACGCTTCAGTTGTCCCAGTTCTTTCATGAGCATGAAAGGAGTCACATAGAGAAACCCCATGAAAGTAAGAAATT/-;NA;NA;NA;NA;NA;NA;37;NA;ZNF627;stop_lost;NM_145295.3:c.1272_*45del;NP_660338.1:p.Arg430Proext*19;Myocardial infarction, association with (2);0.4;3,2;Heterozygous
2;10;19:52399762;C/T;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;34;NA;ZNF649;stop_gained;NM_023074.3:c.201G>A;NP_075562.2:p.Trp67Ter;NA,NA;0.285714;5,2;Heterozygous
8;15;3:42956733;T/-;NA;NA;0.000859818;27;0;NA;34;NA;ZNF662;frameshift_variant;NM_001134656.1:c.1246delT;NP_001128128.1:p.Cys416Valfs*14;NA;0.5;3,3;Heterozygous
7;14;1:249141759;TGCCGCACTTGCCCCTGCCGCACATGCGGCCGGCGCTTCCCGCACCTCCCGGCGCTGCTGCTACACCGGCGCCGCCAGCATC/-;NA;NA;NA;NA;NA;NA;35;NA;ZNF672;frameshift_variant;NM_024836.2:c.290_371del;NP_079112.1:p.Arg97Glnfs*91;NA;0.5;2,2;Heterozygous
33;8;19:53740407;-/T;NA;NA;0.00375868;118;0;NA;33;NA;ZNF677;frameshift_variant;NM_182609.3:c.1573dupA;NP_872415.1:p.Thr525Asnfs*8;NA;0.285714;5,2;Heterozygous
17;21;16:30616424;G/A;NA;NA;NA;NA;NA;1 of 6 Predicted as Damaging;35;NA;ZNF689;stop_gained;NM_138447.2:c.664C>T;NP_612456.1:p.Gln222Ter;NA;0.5;2,2;Heterozygous
25;3;19:21300502;ATGTGGCAAAGCCTTTAATGTGTCTTCACACCTTACTACACATAAGATG/-;NA;NA;3.19E-05;1;0;NA;36;NA;ZNF714;frameshift_variant;NM_182515.3:c.1034_1082del;NP_872321.2:p.Cys345Phefs*28;NA;0.5;2,2;Heterozygous
24;27;16:30536437;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;ZNF768;stop_gained;NM_024671.3:c.1024C>T;NP_078947.3:p.Gln342Ter;NA;0.4;3,2;Heterozygous
17;21;19:57987104;C/T;NA;NA;0.00663054;208;2;2 of 6 Predicted as Damaging;38;NA;ZNF772;stop_gained;NM_001024596.2:c.123G>A;NP_001019767.1:p.Trp41Ter;NA;0.5;2,2;Heterozygous
30;7;19:37238842;C/-;NA;NA;NA;NA;NA;NA;35;NA;ZNF850;frameshift_variant;NM_001193552.1:c.3100delG;NP_001180481.1:p.Glu1034Argfs*56;NA;0.5;2,2;Heterozygous
24;27;3:44540752;ACTAAAGGCTTTCCCACACTCAATACATTCATAAGGTTTTTCTCTCCAGTGTGGACTCTCTGGTGCACAGTAAGCTGTGAGCTGTC/-;NA;NA;NA;NA;NA;NA;37;NA;ZNF852;splice_acceptor_variant;NM_001287349.1:c.1432_1475+42del;NP_001274278.1:p.?;NA;0.5;2,2;Heterozygous
28;6;17:38028738;C/T;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;ZPBP2;stop_gained;NM_199321.2:c.622C>T;NP_955353.1:p.Gln208Ter;"Asthma, association with (2); Increased promoter activity (1)";0.333333;4,2;Heterozygous
26;4;2:187693082;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;37;NA;ZSWIM2;stop_gained;NM_182521.2:c.1531C>T;NP_872327.2:p.Gln511Ter;NA;0.5;2,2;Heterozygous
17;21;1:53326544;G/A;NA;NA;NA;NA;NA;2 of 6 Predicted as Damaging;33;NA;ZYG11A;splice_donor_variant;NM_001004339.2:c.1149+1G>A;NA;NA;0.4;3,2;Heterozygous