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14q11.2CNV Type: Deletion-Duplication


Largest CNV size: 309229 bp

Statistics Box:
Number of Reports: 52


Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
15q duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH.
Deletion
Phenomic determinants of genomic variation in autism spectrum disorders.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
NA
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
CHD8 intragenic deletion associated with autism spectrum disorder.
Deletion
High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families.
Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Duplication
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Duplication
A large data resource of genomic copy number variation across neurodevelopmental disorders
Duplication
Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion-Duplication
Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion-Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Duplication
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Duplication
SHANK1 Deletions in Males with Autism Spectrum Disorder.
Deletion
Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis.
Deletion
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Global increases in both common and rare copy number load associated with autism.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.
Deletion
Recurrent 100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly.
Deletion
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Novel 14q11.2 microduplication including the CHD8 and SUPT16H genes associated with developmental delay.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.
Duplication
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Deletion-Duplication
NA
Duplication
NA
Deletion
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
Deletion
NA
Deletion
NA
Duplication
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Duplication
NA
Duplication
Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 alayadhi_16_ASD_discovery_cases
 ASD cases from 11 multiplex families referred to Autism Research and Treatment Center (ART) and Madinah Maternity and Children Hospital (MMCH)
 22
 All ASD cases met crtieria for autism on one or both diagnostic measures (ADI-R and ADOS), autism severity assessed using CARS-2
 N/A
 100% Male
 225489
 0
 2
 2
 allach_el_khattabi_18_ASD/DD/ID_discovery_cases
  NA NA
 Cases with 16p13.11 duplications whom had been referred to 11 French and 1 Belgian genetic centers for various developmental disorders
 45
 The most frequently observed clinical features in cases were speech delay (88%), learning disabilities/intellectual disability (86%), ASD (67%), and motor delay (49%).
 Range, 6 months-25 years
 48.89% Male
 329422
 1
 0
 1
 breckpot_16_ID/catatonia_discovery_cases
 Adult psychiatric patients with intellectual disability and catatonia recruited from an inpatient unit in the St-Camillus Psychiatric Hospital (Bierbeek, Belgium) from January 2005-January 2015
 15
 Cases diagnosed with intellectual disability (ID) and catatonia (DSM-5 criteria)
 Adult
 N/A
 289000
 0
 1
 1
 celestino-soper_11_ASD_discovery_cases
 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
 99
 ASD
 
 87.88% Male
 241
 1
 0
 1
 chilian_13_DD/ID_discovery_cases
 Patient, born to healthy non-consanguineous parents with no family history of ID, referred at 18 months of age for marked psychomotor and developmental delay; patient carries balanced de novo triple translocation t(11;17;19)(q13.3;q25.1;q13.42)dn with breakpoint disrupting the SHANK2 gene.
 1
 Severe DD/ID, language impairment, behavioral abnormalities
 5 yrs.
 Male
 140400
 2
 0
 2
 davis_09_ASD_discovery_cases
 Autistic cases from Autism Genetic Research Exchange (AGRE)
 36
 ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
 NA
 NA
 394316
 5
 4
 9
 davis_12_ASD_discovery_cases
 Proband from simplex family recruited and assessed by Autism Center of Excellence (ACE) at the University of Illinois-Chicago
 1
 Diagnosis of autistic disorder at 43 months of age. Diagnostic evaluation performed using ADI-R and ADOS-WPS module 3. Additional measures: Repetitve Behavior Scale-Revised (RBS-R) and Aberrant Behavior Checklist-Community Version (ABC-CV) for repetitive behaviors; Social Communication Questionnaire (SCQ) & Social Responsiveness Scale (SRS) for social interactions; Clinical Evaluation of Language Fundamentals (CELF) for language ability; Wechsler Abbreviated Scale of Intelligence (WASI) for verbal and nonverbal abilities; Vineland Adaptive Behavior Scales (VABS-II) for adaptive functioning.
 12 yrs.
 Male
 12159
 1
 0
 1
 eisfeldt_24_ASD_discovery_cases
 Probands from five families enrolled in the Autism Speaks MSSNG project investigated for complex genomic rearrangments (CGRs) involving large duplications.
 5
 Probands were diagnosed with autism spectrum disorder by either meeting ADI-R or ADOS criteria or by receiving a clinical diagnosis from an expert physician following DSM-IV or DSM-5 criteria.
 
 80% Male
 29862
 0
 1
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 146243
 2
 13
 15
 fan_18_DD/ID_discovery_cases
 Individuals from unrelated families presenting with de novo 14q32.2 deletions affecting the CCNK gene
 3
 All three cases presented with severe to extremely severe developmental delay/intellectual disability (DD/ID) with profounds delays in language and social communication; two cases also presented with autistic behaviors
 Range, 4-9 yrs.
 33.33% Male
 425667
 1
 0
 1
 feliciano_19_ASD_discovery_cases
 ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
 465
 All cases diagnosed with ASD
 Range of age at enrollment, 1.544.6 years
 80.86% Male
 13531
 0
 1
 1
 girirajan_11_ASD_discovery_cases
 ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
 336
 Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
 
 
 705434
 2
 0
 2
 girirajan_12_ASD/DD/ID_discovery_cases
 Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
 32587
 Developmental delay with or without congenital malformations
 
 
 1503021
 NA
 NA
 1
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 294000
 0
 1
 1
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 739743
 37
 0
 37
 han_22_ASD/DD/ID_discovery_cases
  NA NA
 Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
 410
 151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
 Mean age, 2 yrs. 11 mos.
 68.78% Male
 1994670
 0
 1
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 3292096
 7
 5
 12
 kanduri_15_ASD_discovery_cases
 Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
 80
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
 N/A
 N/A
 41666
 1
 0
 1
 koochek_06_ASD_discovery_cases
 Affected females from a three-generation family with a family history positive for autism/ASD recruited through ASD-CARC.
 2
 1 case diagnosed with autism (ADOS module 3), 1 case diagnosed with ASD (DSM-IV criteria)
 Range, 8 yrs. 7 mos.-38 yrs.
 100% Female
 700000
 2
 0
 2
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 276852
 1
 3
 4
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 612063
 33
 33
 66
 larson_17_ASD_discovery_cases
  NA NA
 Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
 116
 All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
 N/A
 N/A
 258605
 0
 1
 1
 leblond_12_ASD_discovery_cases
 ASD cases recruited by the PARIS (Paris Autism Research International Sibpair) study at specialized centers disposed in France, Sweden, Germany, Finland, and the UK.
 260
 171 cases with autism, 20 cases with atypical autism, 69 cases with Asperger syndrome (ADOS and either ADI-R or DISCO-10 used for diagnosis). 79 cases with IQ>70, 133 cases with IQ<70, 48 cases with unknown IQ.
 
 74.6% Male
 286279
 0
 1
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 309229
 0
 3
 3
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 370
 1
 0
 1
 monteiro_19_ASD_discovery_cases
  NA NA
 Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
 253
 Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
 N/A
 76.68% Male
 135000
 0
 1
 1
 morrow_08_ASD_discovery_cases
 Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
 94
 ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
 
 
 219000
 1
 2
 3
 mosca_16_DCD_discovery_cases
 Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
 82
 All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
 Range, 8-17 years (Mean, 10.06 2.92 yrs.)
 N/A
 54670
 4
 0
 4
 newbury_12_ASD/CAS_discovery_cases
 Second-born child of healthy, non-consanguineous parents with no family history of speech delay, autistic disorders, and mental retardation
 1
 Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS)
 14 yrs.
 Male
 16703
 1
 0
 1
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 20369
 1
 0
 1
 pfundt_16_NDD_discovery_cases
 Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
 1215
 Neurodevelopmental disorders
 N/A
 N/A
 147229
 1
 0
 1
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases
 Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
 6
 Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
 Range, 8-19 yrs.
 83.33% Male
 1037470
 3
 2
 5
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 65464
 0
 1
 1
 pinto_14_ASD_discovery_cases
 ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
 1359
 Cases classified according to ADOS and ADI-R
 N/A
 N/A
 38962
 1
 0
 1
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 351827
 2
 7
 9
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 103924
 3
 2
 5
 prontera_14_ASD_discovery_cases
 11-year-old girl born to healthy, unrelated parents presenting with autism, macrocephaly, and facial dysmorphisms
 1
 Diagnosis of ASD made at age of 4 years using ADOS module 1 and CARS; diagnosis confirmed using ADOS module 2 at age of 8 years. Cognitive profile assessed using Brunet-Lezine scale at age of 4 years and Leiter-R test at age of 8 years.
 11 yrs.
 Female
 114000
 1
 0
 1
 qiao_09_ASD_discovery_cases
 Subjects with ASD: 31 from simplex families, 45 from immediate multiplex families (MPX-I; sharing an ASD with another family member via a 1st degree relationship), 24 from extended multiplex families (MPX-E; sharing an ASD with another family member via 2nd degree relationship)
 100
 ASD. Diagnosis based on DSM-IV-TR criteria using ADI-R and/or ADOS-G standards
 Range, 2-40 yrs.
 76% Male
 800000
 2
 0
 2
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 461943
 9
 0
 9
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 301266
 21
 10
 31
 sato_12_ASD_discovery_cases_2
 Three additional affected males from four-generation family with ASD/BAP
 3
 Two cases diagnosed with Asperger syndrome, 1 case with broader autism phenotype
 Range, 5 yrs. 8 mos.-95 yrs.
 100% Male
 614913
 1
 0
 1
 shen_10b_ASD_discovery_cases
 Father and son from a three-generation Chinese family with ASD and language delay.
 2
 Diagnosis of ASD based upon DSM-IV criteria.
 Range, 12-41 yrs.
 100% Male
 221854
 2
 0
 2
 smol_19_ASD/DD/ID_discovery_cases
 Two patients with 14q11.2 microduplications encompassing the CHD8 and SUPT16H genes
 2
 Both cases presented with developmental delay (speech delay); one case also presented with pervasive developmental delay and intellectual disability.
 Range, 4-7 years
 50% Male
 400746
 0
 2
 2
 smyk_16_DD/ADHD_discovery_cases
 First child born to healthy non-related parents with unremarkable family history presenting with a de novo 14q11.2 microduplication containing the CHD8 gene
 1
 Developmental delay; case diagnosed with ADHD (combined type) at age of 7 years
 8 yrs.
 Male
 445000
 0
 1
 1
 stolerman_16_ASD/DD_discovery_cases
 9-year-old male ASD proband evaluated at the Greenwood Genetic Center (Greenwood, South Carolina, USA) and presenting with a de novo intragenic CHD8 deletion
 1
 Case with formal diagnoses of ASD, global developmental delay, disruptive behavior disorder, and pica. Case was administered parts of ADOS Module 1 and CARS, as well as Bayley Scales of Infant and Toddler Development (Third Edition) and Vineland Adaptive Behavior Scale (Second Edition)
 9 yrs.
 Male
 4307
 1
 0
 1
 terrone_13_ID/ASD_discovery_cases
 21-year-old women with intellectual disability, autistic features, severe obesity, and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome (WHS) with 4p16.3 region-negative FISH results
 1
 Intellectual disability [IQ assessed using Wechsler Adult Intelligence Scale (WAIS-III)] and autistic features (assessment using ADI-R and ADOS; no formal diagnosis of ASD given in report, although ADI-R scores were above cut-off)
 21 yrs.
 Female
 2890000
 1
 0
 1
 vaags_11_ASD_replication_cases_2
 Replication cohort consisting of patients referred to the Mayo Clinic
 1796
 Autism or pervasive developmental disorder (PDD)
 NA
 NA
 204390
 0
 1
 1
 wang_18_TS_discovery_cases
 Probands from 789 trio families (582 simplex trios, 103 multi-generational trios, and 104 trios with insufficient parental phenotypic data) from TIC Genetics, TAAICG, UTC, and TSGENESEE cohorts
 789
 Probands diagnosed with Tourette syndrome
 N/A
 80.57% Male
 7845
 0
 1
 1
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 15520
 4
 1
 5
 yuan_23_ASD_discovery_cases
 ASD probands from 353 pedigrees (338 simplex trios, 15 multiplex families) recruited from the Department of Child and Adolescent Psychiatry, Shanghai Mental Health Center (Shanghai, China).
 369
 Cases diagnosed with ASD using DSM-IV.
 NA
 NA
 43641
 0
 1
 1
 yuen_17_ASD_discovery_cases
 ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
 2626
 ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
 N/A
 78.71% Male
 29999
 0
 1
 1
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
 Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
 2691
 1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
 
 76.37% Male
 23071
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_discovery_controls
 Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
 630
 Control
 N/A
 N/A
 1217
 1
 0
 1
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 326729
 0
 3
 3
 girirajan_11_ASD_discovery_controls
 Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
 337
 Control. Individuals screened specifically for eight mental health disorders.
 
 
 705434
 0
 0
 0
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 1503021
 NA
 NA
 NA
 girirajan_13b_ASD_discovery_controls
 Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
 223
 Control
 N/A
 N/A
 604689
 22
 0
 22
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 44502
 0
 3
 3
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 37260
 1
 1
 2
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 641393
 18
 18
 36
 larson_17_ASD_discovery_controls
  NA NA
 Entries listed in the Database of Genomic Variants (up to October 2017)
 N/A
 Control
 N/A
 N/A
 258605
 0
 0
 0
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 114063
 0
 2
 2
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 0
 0
 0
 0
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 406678
 4
 2
 6
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 103924
 0
 0
 0
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 115533
 19
 3
 22
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 84600
 10
 5
 15

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 alayadhi_16_ASD_discovery_cases
  Saudi
 Solid phase hybridization
  Illumina HumanOmni 2.5M
 CNVPartition v.3.2.0, Penn CNV
 Illumina GenomeStudio (Genotyping module v1.9.4, Genome Viewer v.1.9.0)
 qPCR
 allach_el_khattabi_18_ASD/DD/ID_discovery_cases
  France, Belgium
 aCGH, solid phase hybridization
  Agilent 44K, Agilent 60K, Agilent 105K, Agilent 180K, Illumina HumanHap300, Illumina HumanCytoSNP-12
 
 
 None
 breckpot_16_ID/catatonia_discovery_cases
  Belgium
 aCGH
  OGT CytoSure ISCA
 
 
 None
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 None
 chilian_13_DD/ID_discovery_cases
  Germany
 aCGH
  Agilent Human Genome CGH Microarray 244A
 
 
 None
 davis_09_ASD_discovery_cases
  NA
 Array SNP
  Affymetrix 250K Nsp, Affymetrix 250K Syt
 HMM
 CNAG v2.0
 None
 davis_12_ASD_discovery_cases
  NA
 Solid phase hybridization
  Illumina Human 1M-Duo DNA Analysis Bead Chip
 PennCNV, QuantiSNP, Gnosis
 CNVision
 None
 eisfeldt_24_ASD_discovery_cases
  Canada, United States, and Sweden
 Long-read genome sequencing
  PromethION (Oxford Nanopore Technologies)
 
 BCFtools
 
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 Yes
 fan_18_DD/ID_discovery_cases
  Chinese
 Array SNP, solid phase hybridization
  Affymetrix CytoScan HD, Illumina HumanCytoSNP-12
 
 
 None
 feliciano_19_ASD_discovery_cases
  N/A
 WES
  Illumina HumanCoreExome 550K
 
 CoNIFER, XHMM
 None
 girirajan_11_ASD_discovery_cases
 
 aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
 HMM
 
 None
 girirajan_12_ASD/DD/ID_discovery_cases
 
 aCGH
  BACs aCGH, SignatureChipOS
 
 
 FISH, aCGH, or confirmation by inheritance
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 None
 girirajan_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
 aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
 DNA Copy Number v1.6
 
 None
 han_22_ASD/DD/ID_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix SNP 6.0, Affymetrix CytoScan HD
 
 
 
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 koochek_06_ASD_discovery_cases
  Caucasian (1 case born in Germany)
 aCGH
  Spectral Genomics 1-Mb whole genome array
 
 
 FISH
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 larson_17_ASD_discovery_cases
  United Kingdom
 Array SNP
  Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
 SNP-FASST2 Segmentation
 Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
 None
 leblond_12_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina Human 1M-Dup BeadChip
 QuantiSNP, PennCNV
 
 None
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 monteiro_19_ASD_discovery_cases
  Portuguese
 aCGH
  Agilent SurePrint G3 4x180K
 
 Agilent Cytogenomics
 None
 morrow_08_ASD_discovery_cases
  Arabic Middle East, Turkey, and Pakistan
 Array SNP
  Affymetrix 500K
 BRLMM
 dChip
 
 mosca_16_DCD_discovery_cases
  Canada
 Solid phase hybridization
  Illumina HumanOmni2.5-Quad BeadChip
 iPattern, PennCNV, QuantiSNP, CNVPartition
 
 None
 newbury_12_ASD/CAS_discovery_cases
  European (Caucasian)
 aCGH
  Agilent 244K
 
 Agilent Feature Extraction v8.5, Agilent CGH Analytics v3.4
 None
 nord_11_ASD_discovery_cases
  29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
 aCGH
  NimbleGen HD2
 Sliding-window algorithm, ~10 kb minumum size threshold
 
 None
 pfundt_16_NDD_discovery_cases
  N/A
 WES
  Solid5500xl, IlluminaHiSeq2000
 
 CoNIFER
 MLPA, MAQ
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases
  Italy
 aCGH
  Agilent SurePrint G3 4x180K
 ADM-2
 Agilent Cytogenomic Software v2.7
 None
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 prontera_14_ASD_discovery_cases
  Italy
 aCGH
  BlueGnome CytoChip ISCA 4x180K v1.0
 
 
 None
 qiao_09_ASD_discovery_cases
  NA
 aCGH
  BACs aCGH
 
 
 FISH; qPCR
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 None (not tested or failure to confirm by qPCR)
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 sato_12_ASD_discovery_cases_2
  Canadian
 aCGH
  Agilent SurePrint G3 Human CGH 1x1M
 DNA Analytics, CBS/DNAcopy
 
 None
 shen_10b_ASD_discovery_cases
  Chinese
 aCGH
  Agilent 244K
 
 DNA Analytics
 
 smol_19_ASD/DD/ID_discovery_cases
  France
 aCGH
  Agilent SurePrint G3 8x60K
 ADM-2
 CGH-analytics v.2.7
 qPCR
 smyk_16_DD/ADHD_discovery_cases
  Poland
 aCGH
  CytoSure ISCA 8x60K v2.0, Oxford Gene Technology
 
 
 None
 stolerman_16_ASD/DD_discovery_cases
  Caucasian
 aCGH
  Agilent 4x180K custom microarray
 
 
 qPCR
 terrone_13_ID/ASD_discovery_cases
  Italy
 aCGH
  CGX-6 Nimblegene (Perkin Elmer) whole-genome oligoarray
 
 Genogliphix 3.0 (Perkin Elmer)
 None
 vaags_11_ASD_replication_cases_2
  NA
 aCGH
  Agilent 44K & 244K
 
 
 None
 wang_18_TS_discovery_cases
  N/A
 WES
  Agilent SureSelect v1.1, Nimblegen EZ v2, Nimblegen EZ v3, IDT xGen
 
 CoNIFER
 qPCR
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None
 yuan_23_ASD_discovery_cases
  China
 WES
  Illumina HiSeq
 NA
 GATK v.4.2.0.0.
 None
 yuen_17_ASD_discovery_cases
  N/A
 WGS
  Complete Genomics, Illumina HiSeq 2000, HiSeq X
 
 
 aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
  74.1% European
 Array SNP
  Affymetrix CytoScan HD
 
 Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
 RT-qPCR or WGS

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  brandler_18_ASD_discovery_controls
  N/A
  WGS
  Illumina HiSeq X10 or HiSeq 2500
  ForestSV, Lumpy, Manta, Mobster, SV2
 
  PCR, array SNP
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
 
  girirajan_12_ASD/DD/ID_discovery_controls
 
  aCGH
  BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
 
 
 
  girirajan_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  larson_17_ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
 
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  qPCR, Sanger sequencing
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  alayadhi_16_ASD_discovery_cases-caseAUT5-1
 N/A
 M
 Autism
 CARS score of 36.0; Social Responsiveness Scale (SRS) score of 79; Sensory profile score of 137.
 
 19729152
 19954640
  225489
 GRCh38
 Duplication
 Yes
  alayadhi_16_ASD_discovery_cases-caseAUT5-2
 N/A
 M
 Autism
 CARS score of 33.0; Social Responsiveness Scale (SRS) score of 80; Sensory profile score of 133.
 
 19729152
 19954640
  225489
 GRCh38
 Duplication
 Yes
  allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case37
  NA NA
 10 yrs.
 M
 ASD, developmental delay, and learning disabilities
 Birth/neonatal history: birth weight < 3rd %ile, length < 3rd %ile, OFC 10th %ile. Developmental milestones: developmental delay, motor delay, speech delay. Motor and musculoskeletal evaluation: club feet. Behavioral/psychiatric evaluation: ASD. Additional medical history: testicular ectopia, renal duplication. Dysmorphic features: delayed dental eruption. Family history: father's phenotype was not reported.
 Learning disabilities
 18378315
 18707736
  329422
 GRCh38
 Deletion
 No
  breckpot_16_ID/catatonia_discovery_cases-case6
 N/A (adult)
 M
 Intellectual disability and catatonia
 Case met DSM-5 criteria for catatonia (symptoms included catalepsy, stupor, mutism, negativism, posturing, stereotypies, perseveration, and pillow sign). Behavioral/psychiatric evaluation: schizophrenia. Epilepsy/seizures: epilepsy. Dysmorphic features: long face, facial hypotonia, ptosis, relative macrocrania. Additional medical history: scoliosis.
 Moderate intellectual disability (FSIQ 41, performance IQ 45, verbal IQ 36)
 21099598
 21388006
  288409
 GRCh38
 Duplication
 No
  celestino-soper_11_ASD_discovery_cases-11533
 NA
 M
 ASD
 NA
 NA
 22922514
 22922755
  242
 GRCh38
 Deletion
 No
  chilian_13_DD/ID_discovery_cases-case1
 5 yrs.
 M
 Developmental delay/intellectual disability
 Patient referred at 18 months for marked psychomotor and developmental delay. Karyotype: 46, XY, t(11;17;19)(q13.3;q25.1;q13.42)dn; translocation with breakpoints within the SHANK2 and UBE2O genes. Birth/neonatal history: duing pregnancy mother had cervical cancer (treated after birth), born at 39 weeks gestation by C-section; birth weight -0.23 SD, length -0.83 SD, OFC +0.7 SD; uneventful perinatal adaption; ventricular septal defect diagnosed at 2 months. Developmental milestones: psychomotor retardation noted at 1.5 years; sat independently at 8 months, began to walk with support at 2.5 years, independent walking at 3.5 years, not toilet trained at 5 years of age. Language and communication evaluation: no spoken language. Motor and musculoskeletal evaluation: ataxia, able to stand with support. Behavioral/psychiatric evaluation: anxious, exhibited habit disorder with stereotypic movements, decreased sensitivity to pain, often caused self-injury. EEG: increased irregular activity. Brain imaging: normal by ultrasound. Visual and auditory evaluation: normal. Sleep disturbances: serious sleeping disturbances. Other features: elevated alkaline phosphatase, lactate dehydrogenase, and serum magnesium levels. Dysmorphic features: coarse face with facial dysmorphism, broad thorax, clinodactyly of 2nd and 3rd toes. Growth parameters: weight of 19.3 kg (+0.1 SD), length of 105 cm (-1.0 SD) and OFC of 51 cm (0 SD) at 5 years of age. Family history: second child of healthy non-consanguineous parents; no family history of miscarriages, ID, or alcohol exposure in utero.
 Severe DD/ID. Evaluation at age of 1.5 years: Brunet-Lezine development test showed delay in movements, coordination, communication, and social skills; psychomotor development corresponded to 9 months, development quotient of 48; Bayley Scales of Infant Development gave Developmental Index score of 84.
 19812290
 19952690
  140401
 GRCh38
 Deletion
 No
  chilian_13_DD/ID_discovery_cases-case1
 5 yrs.
 M
 Developmental delay/intellectual disability
 Patient referred at 18 months for marked psychomotor and developmental delay. Karyotype: 46, XY, t(11;17;19)(q13.3;q25.1;q13.42)dn; translocation with breakpoints within the SHANK2 and UBE2O genes. Birth/neonatal history: duing pregnancy mother had cervical cancer (treated after birth), born at 39 weeks gestation by C-section; birth weight -0.23 SD, length -0.83 SD, OFC +0.7 SD; uneventful perinatal adaption; ventricular septal defect diagnosed at 2 months. Developmental milestones: psychomotor retardation noted at 1.5 years; sat independently at 8 months, began to walk with support at 2.5 years, independent walking at 3.5 years, not toilet trained at 5 years of age. Language and communication evaluation: no spoken language. Motor and musculoskeletal evaluation: ataxia, able to stand with support. Behavioral/psychiatric evaluation: anxious, exhibited habit disorder with stereotypic movements, decreased sensitivity to pain, often caused self-injury. EEG: increased irregular activity. Brain imaging: normal by ultrasound. Visual and auditory evaluation: normal. Sleep disturbances: serious sleeping disturbances. Other features: elevated alkaline phosphatase, lactate dehydrogenase, and serum magnesium levels. Dysmorphic features: coarse face with facial dysmorphism, broad thorax, clinodactyly of 2nd and 3rd toes. Growth parameters: weight of 19.3 kg (+0.1 SD), length of 105 cm (-1.0 SD) and OFC of 51 cm (0 SD) at 5 years of age. Family history: second child of healthy non-consanguineous parents; no family history of miscarriages, ID, or alcohol exposure in utero.
 Severe DD/ID. Evaluation at age of 1.5 years: Brunet-Lezine development test showed delay in movements, coordination, communication, and social skills; psychomotor development corresponded to 9 months, development quotient of 48; Bayley Scales of Infant Development gave Developmental Index score of 84.
 19735290
 19792937
  57648
 GRCh38
 Deletion
 No
  davis_09_ASD_discovery_cases-AU002105
 NA
 NA
 Non-syndromic ASD
 Diagnosis: NQA/Autism on ADOS. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 19272965
 19492423
  219458
 Unknown
 Duplication
 No
  davis_09_ASD_discovery_cases-AU0039303
 NA
 NA
 Non-syndromic ASD
 Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 19272965
 19595673
  322708
 Unknown
 Deletion
 No
  davis_09_ASD_discovery_cases-AU016205
 NA
 NA
 Non-syndromic ASD
 Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 19336854
 19502884
  166030
 Unknown
 Duplication
 No
  davis_09_ASD_discovery_cases-AU019705
 NA
 NA
 Non-syndromic ASD
 Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 21675586
 22069902
  394316
 Unknown
 Duplication
 No
  davis_09_ASD_discovery_cases-AU021903
 NA
 NA
 Syndromic ASD
 Diagnosis: autism. Syndromic autism features: Sotos syndrome
 
 19336854
 19556947
  220093
 Unknown
 Deletion
 No
  davis_09_ASD_discovery_cases-AU028905
 NA
 NA
 Syndromic ASD
 Diagnosis: autism. Syndromic autism features: fused baby teeth
 
 19336854
 19502884
  166030
 Unknown
 Deletion
 No
  davis_09_ASD_discovery_cases-AU0616304
 NA
 NA
 Non-syndromic ASD
 Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 19337785
 19502884
  165099
 Unknown
 Deletion
 No
  davis_09_ASD_discovery_cases-AU067703
 NA
 NA
 Syndromic ASD
 Diagnosis: autism. Seizures. Syndromic autism features: adducted thumbs. Family history: mother with severe bipolar disorder.
 Mental retardation
 19336854
 19496544
  159690
 Unknown
 Duplication
 No
  davis_09_ASD_discovery_cases-AU0875301
 NA
 NA
 Syndromic ASD
 Diagnosis: autism. Syndromic autism features: fused baby teeth
 
 19336854
 19502884
  166030
 Unknown
 Deletion
 No
  davis_12_ASD_discovery_cases-case1
 12 yrs.
 M
 Autism
 Diagnosis of autistic disorder at 43 months of age. ADI-R evaluation: impairments in reciprocal social interaction, 23; qualitative abnormalities in communication, 20; restricted and repetitive patterns of behavior, 6; abnormalitiy of development evident at or before 36 months, 3. ADOS evaluation: communication, 4; social, 7; social affect, 7; restricted repetitive behaviors, 3; calibrated severity score, 6. Birth/neonatal history: 38-week gestation (birth weight 3.6 kg); feeding difficulties, generalized hypotonia, and weakness of left leg and arm noted during infancy. Developmental milestones: loss of previously normal language development at 19 months, with language loss persisting for 11 months; gross motor milestones wihtin normal limits (dragged left leg while learning to crawl). Language and communication evaluation: Clinical evaluation of language fundamentals (CELF-4), 109 (73rd %ile); Social communication questionnaire, 26; primarily verbal communication (fluent and conversational language that could be repetitive, usage of overly formal words in conservation, atypical tone and prosody); limited use of gestures and impairments in nonverbal communication. Motor and musculoskeletal evaluation: pattern of asymmetic physical development consistent with mild left hemiparesis; stretch reflexes 2+ and asymmetrical throughout; left side of face less mobile than right. Behavioral/psychiatric evaluation: Repetitive behavior scale-revised, 6; Aberrant behavior checklist-community, 27; Childhood routines inventory (version 1.2), 44; notable behavior patterns include avoidance of eye contact, staring at hands, preference for certain foods and routines, sensitivity to particular pieces of clothing, irritation by other people, conservations about limited range of topics, preference for solitary activities, talking to himself loudly, engagement in reciprocal social smiling, exhibition of limited insight into others' experiences and narrow understanding of the nature of interpersonal relationships; exhibition of multiple sensory-seeking behaviors and sensitivity to certain stimuli and loud noises. Epilepsy/seizures: no report of clinical seizure. EEG: normal at 22 months; repeat EEG at 5 years showed left temporal and frontal epileptiform waves. Brain imaging: brain MRI normal at 22 months. Growth parameters: head circumference of 56.5 cm (98th %ile; in macrocephalic range). Family history: sister with social awkwardness; father with social isolation/anxiety and elevated broader autism phenotype questionnaire aloofness score (3.75); mother reported six miscarriages and one ectopic pregnancy prior to conception of proband.
 Vineland adaptive behavior scale, 98 (45th %ile).
 23984157
 23996316
  12160
 GRCh38
 Deletion
 No
  eisfeldt_24_ASD_discovery_cases-caseFam4-1
 
 M
 ASD
 Proband diagnosed with autism spectrum disorder (met ADI-R or ADOS criteria or received a clinical diagnosis from an expert physician following DSM-IV or DSM-5 criteria). This proband also presented with a Wechsler IQ score of 122 and features of ADHD. Family history was N/A; an unaffected twin brother also had the 14q11.2 rearrangment. Copy number profile for the complex genomic rearrangement (CGR) identified in this individual was duplication-normal-duplication, and HGVS annotation for the CGR was chr14:g.21879481_qterdelins[chr14:g.21501001_21502976;chr14:g.21849620_qter].
 
 21381461
 21411322
  29862
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case1050_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 20741712
 20807175
  65464
 GRCh38
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case14011_210
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 21310633
 21343037
  32405
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20033_1227001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19843929
 19954424
  110496
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20046_1262001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19827190
 19951771
  124582
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20051_1275001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19843929
 19955706
  111778
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20052_1277001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19843929
 19955706
  111778
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20053_1279001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19843929
 19955706
  111778
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20066_1318001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19843929
 19955706
  111778
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20077_1347001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19843929
 19951771
  107843
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20083_1374001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19843929
 19955706
  111778
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20104_1474001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19827190
 19951771
  124582
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20114_1547001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19827190
 19951771
  124582
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20116_1557001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19827190
 19951771
  124582
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case2184_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 20871104
 21017347
  146244
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4308_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19976429
 20036027
  59599
 GRCh38
 Deletion
 No
  fan_18_DD/ID_discovery_cases-subject3
 6 yrs.
 F
 Developmental delay/intellectual disability and autistic features
 Developmental milestones: severe delays in gross and fine motor skill development, extremely severe delays in language development and social communication development, severe delays in adaptivity. Language and communication evaluation: language ability equivalent to 13 months. Behavioral/psychiatric evaluation: autistic behaviors, stereotypic behavior (hand flapping). Dysmorphic features: hypertelorism, thin eyebrows, dysmorphic ears, palpebral fissures, broad nasal bridge and tip, thick nasal alae, long philtrum, thin upper lip vermillion, narrow jaw. Growth parameters: height and weight both normal, head circumference -1 SD ~ -2 SD.
 Severe intellectual disability
 22065487
 22490430
  424944
 GRCh38
 Deletion
 No
  feliciano_19_ASD_discovery_cases-caseSP0027065
 N/A
 M
 ASD
 Family history: both parents are negative for ASD and have no reported mental health diagnoses.
 
 22766522
 22780052
  13531
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si197
 15
 M
 Autism
 ADOS score: 9. Vineland composite score: 57.
 Severe mental retardation/intellectual disability. Full-scale IQ, 34; Verbal IQ, 35; Non-verbal IQ, 34.
 19828753
 20237083
  408331
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si238
 10
 M
 Autism
 ADOS score: 8. Vineland composite score: 71.
 Mild mental retardation/intellectual disability. Full-scale IQ, 68; Verbal IQ, 63; Non-verbal IQ, 76.
 21995819
 22700283
  704465
 GRCh38
 Deletion
 No
  girirajan_12_ASD/DD/ID_discovery_cases-case43670
 NA
 M
 Developmental delay
 NA
 NA
 21267674
 22769645
  1501972
 GRCh38
 NA
 Yes
  girirajan_13a_ASD_discovery_cases-11242.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 21651944
 21941969
  290026
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-12308109510
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 22029393
 22532596
  503204
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-16909111203
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 22029393
 22499046
  469654
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-17408109789
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: African American
 N/A
 21995819
 22532596
  536778
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-20207108119
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 21995819
 22532596
  536778
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-20604100546
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 21860797
 22499046
  638250
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-20708109930
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 21995819
 22532596
  536778
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-21105103264
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
 N/A
 21995819
 22465334
  469516
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-21908109957
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 21995819
 22532596
  536778
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-24609111458
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
 N/A
 22029393
 22565894
  536502
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-25504100812
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 21995819
 22532596
  536778
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-26507108418
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 21860797
 22465334
  604538
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-29806106231
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 22264844
 22700283
  435440
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-3205102622
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 21995819
 22599637
  603819
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-3309110754
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 21995819
 22532596
  536778
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-3508108947
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 21995819
 22599637
  603819
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-36904100666
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 21995819
 22532596
  536778
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-41206106842
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 21995819
 22700283
  704465
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-42805103614
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 21860797
 22499046
  638250
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-43405103622
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 21995819
 22532596
  536778
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-45905104126
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
 N/A
 21995819
 22532596
  536778
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-47306107043
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 21826899
 22532596
  705698
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-47906107057
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 21894433
 22532596
  638164
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-48804101682
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 21995819
 22532596
  536778
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-49906107136
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 21995819
 22565894
  570076
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-50604101832
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 21826899
 22565894
  738996
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-59704102165
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 21995819
 22499046
  503228
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-60504102200
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 22096531
 22499046
  402516
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-60705104612
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 22029393
 22499046
  469654
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-70104102471
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 21995819
 22499046
  503228
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-7806105460
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 21995819
 22532596
  536778
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-8203100466
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
 N/A
 22164133
 22666433
  502301
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-8205102886
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 21995819
 22532596
  536778
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-8508109357
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 22029393
 22465334
  435942
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-8705102962
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 21995819
 22565894
  570076
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-909110667
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 21860797
 22532596
  671800
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-9105102949
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
 N/A
 21928682
 22532596
  603915
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-9805103469
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 22029393
 22633413
  604021
 GRCh38
 Deletion
 No
  han_22_ASD/DD/ID_discovery_cases-case16D1511
  NA NA
 1 yr.
 F
 Developmental delay
 Facial dysmorphism
 
 20043513
 22038182
  1994670
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000910
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20151149
 23442195
  3291047
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001143
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21919243
 22442515
  523273
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001243
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23260803
 23699021
  438219
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001624
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20475357
 21613255
  1137899
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001684
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20908863
 21576473
  667611
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001779
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21224511
 21455608
  231098
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002045
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 19755249
 22741281
  2986033
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002494
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21408814
 21517190
  108377
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002653
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20127290
 21376436
  1249147
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004128
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21058251
 21384204
  325954
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004648
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 22021664
 22592708
  571045
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005401
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20939377
 21670911
  731535
 GRCh38
 Duplication
 Yes
  kanduri_15_ASD_discovery_cases-case2974
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 21364220
 21405885
  41666
 Unknown
 Deletion
 No
  koochek_06_ASD_discovery_cases-subjectII:3
 38 yrs.
 F
 ASD
 Diagnosed at age 28 years with ASD (according to DSM-IV criteria). Birth/neonatal history: born after normal full-term pregnancy, low muscle tone, noted to be less responsive than other babies. Developmental milestones: gradually apparent developmental delays. Behavioral/psychiatric evaluation: history of psychiatric problems; described as "disturbed and living in a fantasy world" upon starting elementary school; ADHD (started on Ritalin at age 11 with some improvement in attention and hyperactivity); problematic behaviors including swearing, screaming, stealing, lying and outward physical and verbal abuse and aggression towards others developed after age 18 years; finger-flicking, consistent gaze avoidance. Epilepsy/seizures: diagnosed with partial simple seizures following development of balckouts at 25 years (resolved with Tegretol therapy); progressed to generalized seizure disorder at 38 years. EEG: diffuse increase in baseline activity but no fical disturbance at 8 months; no significant abnormality at 11 years. Language and communication evaluation: slurred speech and inability or read or write at 10 years; staccato-like, hoarse voice with articulation problems and frequent vocal tics. Musculoskeletal evaluation (38 yrs): normal. Two eye operations for strabismus at 11 yrs. Dysmorphic features: posterior occipital flattening, coarsened facial features, down-slanting palpebral fissures, broad and high nasal root, widened nasal bridge, prominent nasal tip, maxillary hypoplasia, retrognathia, pointed chin, crowded and protuberant teeth, D2/D3 syndactyly. Growth parameters: height, 5th %ile; weight, 50th-75th %ile; head circumference, 25th-50th %ile. Family history: niece (subject III:1) diagnosed with autism with comorbid intellectual disability; sister (subject II:2) reported to have learning problems as a child but no symptoms of autism; maternal aunt (subject I:3) who died in her 40s with learning disabilities, psychiatric illness, and symptoms of autism. Other genetic characteristics: cryptic maternally-transmitted translocation t(14:15)(q11.2:q13.3).
 Intellectual disability, clinically diagnosed at 5 years of age.
 19570808 (approx.)
 20341734 (approx.)
  700000
 NCBI35
 Deletion
 Yes
  koochek_06_ASD_discovery_cases-subjectIII:1
 8 yrs. 7 mos.
 F
 Autism
 Diagnosis of autism (ADOS module 3, administered at 8 yrs. 7 mos.). Birth/neonatal history: born at 42 weeks following uncomplicated pregnancy, required resuscitation, Apgar scores ranged from 4-6 (1st few minutes) and were 8 at 10 minutes. Developmental milestones: mild motor delays noted in infancy (cruising at 13-14 months, walking at 16 months with clumsiness and uneven arm swing); problematic fine motor development; mildly delayed expressive language development (single words at 2 years, 2-3 word combinations by 3 yrs.). Language and communication evaluation: combined receptive/expressive language disorder; speech abnormalities (whisperings, mumbling, stereotyped phrasing) and alterations in speech fluency. Motor skills and musculoskeletal evaluation: low average muscle tone with increased joint mobility confirmed at 4 yrs.; generalized ligamentous laxity noted at 8 yrs. 7 mos. Behavioral/psychiatric evaluation: poor social reciprocity, lack of interest in elicting information, poor eye contact, difficulties with empathy, lack of insight, social awkardness, limited social overtures; anxiety symptoms. EEG: normal. Brian MRI: normal. Dysmorphic features: high forehead with deep-set eyes, down-slanting palpebral fissures, right esotropia, flat occiput, facial asymmetry, broad nasal root, high nasal bridge, high-arched palate, maxillary hypoplasia, retrognathia. Growth parameters: height, 75th %ile; weight, 75th %ile; head circumference, 75th %ile. Family history: mother (subject II:2) reported to have mild learning problems as a child but no symptoms of autism; maternal aunt (subject II:3) with ASD with comorbid intellectual disability (ID), ADHD, oppositional disorder, conduct disorder, and epilepsy: maternal grand-aunt (subject I:3) who died in her 40s with learning disabilities, psychiatric illness, and symptoms of autism. Other genetic characteristics: cryptic maternally-transmitted translocation t(14:15)(q11.2:q13.3).
 Formal cognitive testing performed at 5 yrs. 1 mo). Wechsler Preschool and Primary Scales of Intelligence-Revised (WWPSI-R) overall score in mild intellectual disability (ID) range: verbal score, 73 (borderline); performance score, 65 (mild ID). Vineland Adaptive Behaviour Scale: overall functioning in mild ID range in terms of communication, daily living skills and motor skills; low-average performance in socialization.
 19570808 (approx.)
 20341734 (approx.)
  700000
 NCBI35
 Deletion
 Yes
  krumm_13_ASD_discovery_cases-case11094.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11094. SRS score of 76.
 Full-scale IQ (FSIQ) score of 87.
 20891686
 21156025
  264340
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case11242.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11242. SRS score of 79.
 Full-scale IQ (FSIQ) score of 94.
 21665082
 21941957
  276876
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case12460.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12460. SRS score of 83.
 Full-scale IQ (FSIQ) score of 68.
 20747580
 20956257
  208678
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case13139.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 13139. SRS score of 73.
 Full-scale IQ (FSIQ) score of 127.
 21712012
 21724621
  12610
 GRCh38
 Deletion
 No (not tested)
  krumm_15_ASD_discovery_cases-case11028.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22438961
 22509426
  70466
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11056.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 22438961
 22502314
  63354
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11069.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 22438961
 22499771
  60811
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11094.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 20891686
 21156025
  264340
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11156.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22132525
 22507747
  375223
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11196.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 20223709
 20243766
  20058
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11242.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21665082
 21941957
  276876
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11246.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 22422518
 22499771
  77254
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11284.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 23392561
 23419609
  27049
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11310.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22304025
 22479604
  175580
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11359.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22438961
 22456768
  17808
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11368.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 20990002
 20996292
  6291
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11375.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 22438961
 22469648
  30688
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11501.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22123496
 22486314
  362819
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11512.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21474866
 21477564
  2699
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11551.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 19876267
 19936602
  60336
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11572.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22070365
 22498038
  427674
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11599.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 22112395
 22511048
  398654
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11601.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22281125
 22502314
  221190
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11696.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22438500
 22456768
  18269
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11715.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22105559
 22525735
  420177
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11722.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22438500
 22502314
  63815
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11845.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21894233
 22505489
  611257
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11990.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22320163
 22505191
  185029
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12081.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 22303720
 22320991
  17272
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12238.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 22422744
 22469648
  46905
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12360.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22422744
 22459179
  36436
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12366.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22422744
 22459179
  36436
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12378.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 22086427
 22516354
  429928
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12440.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22438200
 22479902
  41703
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12481.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22086127
 22482667
  396541
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12507.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22070365
 22489866
  419502
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12518.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22422518
 22456768
  34251
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12565.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 22476529
 22502314
  25786
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12645.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22422518
 22499771
  77254
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12651.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22070365
 22500069
  429705
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13017.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22422744
 22516354
  93611
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13036.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22314161
 22469946
  155786
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13047.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22304025
 22320693
  16669
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13058.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22320163
 22466579
  146417
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13089.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22147764
 22169288
  21525
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13150.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 22303720
 22320991
  17272
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13163.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22773609
 22776318
  2710
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13166.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 19876267
 19936602
  60336
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13207.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 22438961
 22459179
  20219
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13557.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 22203082
 22505191
  302110
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13577.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22226437
 22482667
  256231
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13621.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22438961
 22489568
  50608
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13646.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22070365
 22496288
  425924
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13661.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 22303720
 22315219
  11500
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13701.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21997661
 22523679
  526019
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13720.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22303720
 22320991
  17272
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13752.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22280825
 22476930
  196106
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13792.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22052493
 22509426
  456934
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13814.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22438961
 22503832
  64872
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13832.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22112395
 22514021
  401627
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13888.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22773609
 22780051
  6443
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14009.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22096024
 22505191
  409168
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14039.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22070365
 22495202
  424838
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14072.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22207509
 22506725
  299217
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14113.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 20428848
 20447279
  18432
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14186.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22086127
 22498038
  411912
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14201.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22086427
 22509426
  423000
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14225.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22226437
 22479902
  253466
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14237.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22438961
 22499771
  60811
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14257.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22319863
 22475696
  155834
 GRCh38
 Deletion
 Yes
  larson_17_ASD_discovery_cases-case18
  NA NA
 N/A
 M
 ASD and psychosis
 Male, normal range IQ, psychosis onset early teens, diagnosis of psychosis NOS, no family history. CNV not reported in DGV.
 IQ with normal range
 21101287
 21359892
  258606
 GRCh38
 Duplication
 No
  leblond_12_ASD_discovery_cases-AUGB038_3
 11.05 yrs.
 M
 Autism
 ADI-R domain scores (at 11 yrs.): social, 24; communication, 23; behavior, 6. Birth/neonatal history: normal pregnancy and delivery, at term; height 48 cm, weight 2500 g, HC 31 cm; Apgar scores of 7 and 10; no mention of signs of hypotonia in first year. Developmental milestones: apparently normal motor acquisition, severe speech delay; age of sitting, 6 months; age of walking, 18 months; age of first words, 48 months; age of first sentences, 78 months; no regression during development. Language and communication evaluation: expressive language limited to restrictive sentences, mainly dyssyntaxic. Neurological evaluation: normal neurological exam. Epilepsy/seizures: none. EEG: no significant epileptic event reported. Brain imaging: ND. Other exams: karyotype, fragile X, and metabolic screening normal. Other comorbid conditions: inguinal hernia, operated at 2 months of age; hypermetropia and astigmatism. Dysmorphic features: prominent chin, no other dysmorphic features. Family history: non-consanguineous parents, no relevant personal and familial history of psychiatric or medical illness.
 Composite score on Kaufman Assessment Battery for Children/K-ABC (age at evaluation, 11.05 years) of 40 (moderate ID)
 19669428
 19955706
  286279
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11094.p1
 NA
 M
 ASD
 NA
 NA
 20881957
 21191185
  309229
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11242.p1
 NA
 M
 ASD
 NA
 NA
 21647262
 21946209
  298948
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11284.p1
 NA
 M
 ASD
 NA
 NA
 23390063
 23419851
  29789
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown28
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
 
 20693803
 20694176
  374
 GRCh38
 Deletion
 No
  monteiro_19_ASD_discovery_cases_case27
  NA NA
 N/A
 M
 ASD
 Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Developmental milestones: normal (no developmental delay). Dysmorphic features: present. Growth parameters: macrocephaly.
 Normal (no intellectual disability)
 22698484
 22833410
  134927
 GRCh38
 Duplication
 No
  morrow_08_ASD_discovery_cases-case11101
 NA
 
 ASD
 NA
 NA
 19273000
 19487000
  214000
 Unknown
 Duplication
 No
  morrow_08_ASD_discovery_cases-case1603
 NA
 
 ASD
 NA
 NA
 21700000
 21785000
  85200
 Unknown
 Deletion
 No
  morrow_08_ASD_discovery_cases-case8601
 NA
 
 ASD
 NA
 NA
 19273000
 19492000
  219000
 Unknown
 Duplication
 No
  mosca_16_DCD_discovery_cases-case106003
 N/A
 M
 DCD (with or without ADHD and/or RD)
 Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
 
 22415205
 22447683
  32479
 GRCh38
 Deletion
 No
  mosca_16_DCD_discovery_cases-case109503
 N/A
 M
 DCD (with or without ADHD and/or RD)
 Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
 
 22415205
 22447683
  32479
 GRCh38
 Deletion
 No
  mosca_16_DCD_discovery_cases-case109503
 N/A
 M
 DCD (with or without ADHD and/or RD)
 Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
 
 22169716
 22224385
  54670
 GRCh38
 Deletion
 No
  mosca_16_DCD_discovery_cases-case117404
 N/A
 F
 DCD (with or without ADHD and/or RD)
 Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
 
 22415205
 22447683
  32479
 GRCh38
 Deletion
 No
  newbury_12_ASD/CAS_discovery_cases-case1
 14 yrs.
 M
 PDD-NOS and CAS
 Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS). Developmental milestones: normal early development until age of 1.5 years (evidence of social withdrawal). Language and communication evaluation: assessment with Vineland Adaptive Behavior Scale (VABS) showed remarkable impairment in langauge and communication; at age of 14 years, case scored at an age equivalent of 3 years and 3 months in the communication domain, with major impairment in expressive subdomain. Behavioral/psychiatric evaluation: displayed stereotypic movements and behavioral disturbances with self-aggressive episodes. Vision and hearing evaluation: normal. Dysmorphic features: heavy eyebrows with mild synophris, down-slanting palpebral fissures, hypertelorism, short philtrum, carp shaped mouth, full lips. Growth parameters: normal height & weight, macrocephaly. Family history: second-born child of unrelated and healthy parents; parents were clinically normal with no family history of speech delay, autistic disorders or mental retardation.
 
 20939377
 20956080
  16704
 GRCh38
 Deletion
 No
  nord_11_ASD_discovery_cases-216-1
 
 
 ASD
 
 
 22335356
 22355724
  20369
 Unknown
 Deletion
 No
  pfundt_16_NDD_discovery_cases-case23
 N/A
 N/A
 NDD
 Disease cohort: neurodevelopmental disorder. Description: MYH7 deletion; de novo
 
 23429228
 23576457
  147230
 GRCh38
 Deletion
 Yes
  picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient1
 N/A
 M
 ASD and intellectual disability
 Developmental milestones: mild delay in walking (18 months); language regression after 2.5 years of age. Language and communication evaluation: non-verbal autism. Behavioral/psychiatric evaluation: non-verbal autism; OCD; irritability; mood disorder; stereotypies. Family history: father affected by mood disorder, anxiety, and chronic alcoholism; father's cousin affected by language delay; mother with autoimmune connective tissue disease.
 Severe intellectual disability
 21900684
 22495939
  595256
 GRCh38
 Deletion
 No
  picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
 N/A
 M
 ASD and ADHD
 Case diagnosed with high functioning ASD (RAADS-R score of 123) and ADHD. Developmental milestones: normal motor development; delay in expressive language with difficulties in abstract processing and visual information. Family history: older brother with non-verbal low-functioning ASD; mother suffered from major depression, generalized anxiety disorder, and meningioma; maternal cousin with autism, language delay, and epilepsy associated with intellectual disability; two maternal uncles with gliomas involving the corpus callosum; mother's nephew with hemophilia; paternal grandmother with ill-defined psychiatric disorder.
 TIQ score of 109
 19864285
 19946073
  81789
 GRCh38
 Duplication
 No
  picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient3
 N/A
 M
 Developmental delay
 Birth/neonatal history: born after artificial insemination by ICSI. Developmental milestones: displayed neurodevelopmental delay at 1 year. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: self-injurious behavior. Family history: paternal uncle diagnosed with Asperger syndrome.
 Developmental delay (TIQ score of 54)
 18867100
 19259065
  391966
 GRCh38
 Duplication
 No
  picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient4
 N/A
 M
 ASD and intellectual disability
 Case met criteria for ASD diagnosis, exceeding ADOS and ADI thresholds in all areas. Developmental milestones: motor delay; language delay. Behavioral/psychiatric evaluation: depressed mood. Brain imaging: cerebral venous malformation detected on brain MRI. Family history: brother of maternal grandfather affected by intellectual disability; maternal grandmother affected by thyroid cancer.
 Moderate cognitive impairment (TIQ score of 41)
 18600285
 19946073
  1345789
 GRCh38
 Deletion
 No
  picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient6
 N/A
 M
 ASD and intellectual disability
 Case met diagnostic criteria for ASD with both ADOS and ADI scores falling into the autism spectrum range. Birth/neonatal history: born after artificial insemination by ICSI. Developmental milestones: normal motor development; delay in expressive language. Behavioral/psychiatric evaluation: anxiety; OCD; attention deficit disorder (ADD). Family history: mother suffers from major depression, psoriasis, and eating disorder; father's family includes one case of intellectual disability, a paternal grandmother affected by depression and autoimmune thyroiditis, and a paternal uncle diagnosed with OCD.
 Mild intellectual disability (TIQ score of 64); memory impairment
 22160244
 22442515
  282272
 GRCh38
 Deletion
 No
  pinto_10_ASD_discovery_cases-case1050_3
 NA
 F
 Autism
 Verbal
 No MR
 20741712
 20807175
  65464
 GRCh38
 Duplication
 Yes
  pinto_14_ASD_discovery_cases2-case3576_4
 N/A
 M
 ASD
 Clinical profile: N/A.
 Cognitive profile: N/A.
 22106452
 22145736
  39285
 GRCh38
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case00HI1663A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU056708; NDAR ID NDAR_INVAC801FDF)
 
 19975517
 20243768
  268252
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case04HI2802A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU067403; NDAR ID NDAR_INVMW859JCC)
 
 21211221
 21234195
  22975
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case05HI3629A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU1368302; NDAR ID NDAR_INVFL897HKN)
 
 21211404
 21234195
  22792
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case05HI4308A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU1220301; NDAR ID NDAR_INVUY718AWP)
 
 21211404
 21234195
  22792
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case05HI4726A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1379301; NDAR ID NDAR_INVGV976FLF)
 
 22479521
 22513998
  34478
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case98HI0311A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU009703; NDAR ID N/A)
 
 21211221
 21234195
  22975
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0748
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU004403; NDAR ID NDAR_INVME853EKT)
 
 22112423
 22463210
  350788
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case99HI0807A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
 
 20452327
 20460847
  8521
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI1157A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU013303; NDAR ID N/A)
 
 20747579
 20802070
  54492
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case117368L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 22929752
 22957782
  28031
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case154624L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 22230278
 22334201
  103924
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case60980L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 22929752
 22958997
  29246
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case71118
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 19776441
 19786814
  10374
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case85024
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 22929752
 22959469
  29718
 Unknown
 Deletion
 No
  prontera_14_ASD_discovery_cases-case1
 11 yrs.
 F
 ASD
 Diagnosis of ASD made at age of 4 years using ADOS module 1 (score of 8 in "communication area", autism cut-off = 4; score of 14 in "reciprocal social interaction", autism cut-off = 7) and CARS (total score of 38.5/60, value indicative of an ASD); diagnosis confirmed using ADOS module 2 at age of 8 years (score of 21, autism cut-off = 12). Birth/neonatal history: born after spontaneous delivery following a normal pregnancy; birth length of 51 cm (50th %ile), weight of 3340 g (50th %ile), and OFC of 33 cm (25th %ile); infantile hypotonia. Developmental milestones: psychomotor developmental delay (walking independently at 20 months); language delay resulting in speech therapy at age of 3.5 years (lack of any significant clinical progress and appearance of echolalia and stereotypic movements prompted new, more detailed diagnostic evaluation). Brain imaging: brain MRI at 8 years showed no structural abnormalities. Dysmorphic features: macrocephaly, prominent forehead, microretrognathia, prominent anti-helix, additional anti-helix crus, sqaured superior portion of the helix, large and triangular shaped concha, high and narrow palate, prominent central incisors, prominent digit pads, clinodactyly of 4th and 5th toes bilaterally. Growth parameters: height of 143 cm (75th %ile), weight of 30 kg (50th %ile), and OFC of 55 cm (97th %ile) at age of 10 years. Family history: born to healthy, unrelated parents.
 Full-scale IQ of 76 (Leiter-R test) at age of 8 years; age of 20 months, instead of 48, at the Brunet-Lezine scale at age of 4 years.
 21355693
 21469462
  113770
 GRCh38
 Deletion
 No
  qiao_09_ASD_discovery_cases-case5
 Range, 36-40
 F
 ASD
 Phenotype Score: 4. Epilepsy. Growth parameters: normal. Dysmorphic features: >2 craniofacial dysmorphisms. Family history: multiplex extended (MPX-E; sharing an ASD with another family member via 2nd degree co-relationship).
 Mild intellectual disability (IQ between 50 & 70)
 19570792
 20341734
  800000
 Unknown
 Deletion
 Yes
  qiao_09_ASD_discovery_cases-case6
 Range, 6-10
 F
 Autism
 Phenotype Score: 4. Growth parameters: normal. Dysmorphic features: >2 craniofacial dysmorphisms. Seizures: none. Family history: multiplex extended (MPX-E; sharing an ASD with another family member via 2nd degree co-relationship).
 Moderate intellectual disability (IQ between 35 & 50)
 19570792
 20341734
  800000
 Unknown
 Deletion
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1007-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: no.
 22062230
 22106097
  43868
 GRCh38
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1060-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: yes. Seizures: yes.
 Developmental delay: yes. Intellectual disability: yes.
 22030921
 22492115
  461195
 GRCh38
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1185-0
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: yes.
 Developmental delay: yes. Intellectual disability: no.
 22030921
 22066726
  35806
 GRCh38
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1189-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: unknown. Seizures: unknown.
 Developmental delay: yes. Intellectual disability: unknown.
 22067807
 22120065
  52259
 GRCh38
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1207-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: unknown.
 22035668
 22066726
  31059
 GRCh38
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-226a2
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: N/A. Seizures: yes (onset at 1 day).
 Developmental delay: N/A. Intellectual disability: N/A.
 22035668
 22461166
  425499
 GRCh38
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-144
 N/A
 N/A
 PMG
 Diagnosis of polymicrogyria (PMG).
 
 22035668
 22066726
  31059
 GRCh38
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-186
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 22035668
 22083713
  48046
 GRCh38
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-221
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 20875005
 20931418
  56414
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11050.p1
 5.7
 F
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 95; verbal IQ 104
 23984157
 24020396
  36240
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11073.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
 23984157
 24011124
  26968
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11094.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 105; verbal IQ, 86
 20889996
 21191262
  301267
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11108.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 114; verbal IQ, 85
 23959300
 24020396
  61097
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11176.p1
 12.5
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 117; verbal IQ, 144
 22789712
 22791483
  1772
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11196.p1
 12.1
 M
 Autism
 NA
 Full-scale IQ, 112; non-verbal IQ, 117; verbal IQ, 106
 20222009
 20247866
  25858
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11242.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
 21648679
 21945587
  296909
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11245.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 107; verbal IQ, 117
 20238941
 20241529
  2589
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11284.p1
 8.3
 M
 ASD
 NA
 Full-scale IQ, 122; non-verbal IQ, 117; verbal IQ, 125
 23391499
 23418656
  27158
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11398.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 106; verbal IQ, 77
 23984157
 23996316
  12160
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11459.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 88; verbal IQ, 71
 22789712
 22791483
  1772
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11485.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 75; verbal IQ, 63
 23984157
 23995381
  11225
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11564.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 89; verbal IQ, 106
 21583386
 21587012
  3627
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11567.p1
 9.4
 F
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
 21583386
 21590210
  6825
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11710.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 73
 21362953
 21369081
  6129
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11825.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 131; non-verbal IQ, 135; verbal IQ, 115
 22650159
 22670160
  20002
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11914.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 81; verbal IQ, 91
 22625942
 22628613
  2672
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11969.p1
 14.3
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
 21344175
 21403494
  59320
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12180.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 92; verbal IQ, 86
 23984157
 24014851
  30695
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12211.p1
 6.2
 F
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 57; verbal IQ, 82
 21347049
 21407328
  60280
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12379.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 86
 21563842
 21566493
  2652
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12426.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 86; verbal IQ, 81
 23984157
 23996316
  12160
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12435.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 51; verbal IQ, 40
 22625942
 22628613
  2672
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12517.p1
 13.4
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 41; verbal IQ, 20
 21583386
 21590210
  6825
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12597.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 70; non-verbal IQ, 77; verbal IQ, 66
 23984157
 23996316
  12160
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12598.p1
 17.4
 M
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 83; verbal IQ, 34
 23984157
 23996316
  12160
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12603.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 23; non-verbal IQ, 26; verbal IQ, 20
 23984157
 23985715
  1559
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12761.p1
 5.4
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 109; verbal IQ, 89
 23984157
 23995521
  11365
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12894.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 79
 21387921
 21392201
  4281
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13016.p1
 5.5
 M
 Aspergers
 NA
 Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
 22625942
 22628613
  2672
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13072.p1
 15.5
 F
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 94; verbal IQ, 97
 23984157
 23985715
  1559
 GRCh38
 Deletion
 No
  sato_12_ASD_discovery_cases_2-family1caseIV-3
 5 yrs. 8 mos.
 M
 Asperger
 Diagnosis of Asperger syndrome; positive for autism on ADI-R and ASD on the ADOS. Developmental milestones: not talking at 18 months, developed single words at 24 months. Language and communication evaluation: expressive language consisted of short sentences and phrases, some echoed speech, and mild articulation difficulties; Oral and Written Language Scales (OWLS) total language score of 80 (9th %ile), receptive language score of 78 (7th %ile), and expressive language score of 86 (18th %ile); Peabody Picture Vocabulary Test (PPVT) 4th edition receptive vocabulary score of 91 (27th %ile). Behavioral/psychiatric evaluation: exhibition of repetitive behaviors; failure to offer comfort or empathy; failure to initiate social interaction, although did play with parents; had made good progress in social interaction at 5 years 8 months of age. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: brother with ASD/Asperger disorder; mother with diagnosis of anxiety disorder and generalized anxiety disorder (no ASD or BAP); maternal uncle with Asperger disorder; great-grandfather with BAP.
 Wechsler Preschool and Primary Scale of Intelligence (WPPSI): full-scale IQ of 89 (23rd %ile, low average range); verbal Iqof 89 (23rd %ile); performance IQ of 91 (27th %ile). Adaptive behavior scores (as determined by Vineland Adaptive Behavior Scales/VABS-II): adaptive behavior composite score of 86 (18th %ile); communication score of 91 (27th %ile); daily living skills score of 89 (23rd %ile); socialization score of 85 (16th %ile); motor score of 91 (27th %ile).
 21893365
 22507472
  614108
 GRCh38
 Deletion
 No
  shen_10b_ASD_discovery_cases-caseII:5
 41 yrs.
 M
 ASD
 Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: born at 40 weeks gestation, normal delivery. Developmental milestones: significant learning disability during childhood, speech delay. Language and communication evaluation: non-communicative. Motor and musculoskeletal evaluation: normal gait. Behavioral/psychiatric evaluation: repetitive motor mannerisms; social difficulty. History of alcohol abuse. Other medical concerns and comorbidities: elevated serum lipid and uric acid levels. Dysmorphic features: flat face, down-slanting eyes, broad nasal bridge, large submaxilla, thick upper lip, low-set ears, terminal broadening of fingers. Growth parameters: height, 160 cm; weight, 67 kg; BMI, 26.17; OFC, NA.
 IQ not tested; significant childhood learning disability
 19268776
 19490630
  221854
 Unknown
 Deletion
 No
  shen_10b_ASD_discovery_cases-caseIII:1
 12 yrs.
 M
 ASD
 Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: exposure to traditional Chinese medicine and second-hand smoke during pregnancy, born at 40 weeks gestation, normal delivery. Developmental milestones: growth delay; gross motor delay (sitting at 10 months, walking at 2 years); fine motor delay; speech delay (said "Mama and "Dada" at 2 years). Language and communication evaluation: no formal psychiatric evaluation; impairment in social interaction and communication, repetitive motor mannerisms, murmured to himself, irritability, unhappy mood. Motor and musculoskeletal evaluation: unsteady gait, scoliosis in chest and lumbar spine; wedge-shaped hemivertebra, or half vertebra in T7, L3. Behavioral/psychiatric evaluation:. EEG: normal. MRI: normal. Vision: bilateral myopia with right strabismus and ptosis. Other medical concerns and comorbidities: congenital heart defect (atrial septal defect/ASD). Dysmorphic features: low posterior hairline, significant hair growth on back, long and flat face, hypertelorism, down-slanting eyes, ptosis, strabismus in right eye, flat and broad nasal bridge, large submaxilla, retrognathia, thick lower lip, high palate, low-set ears, short webbed neck, terminal broadening of fingers, clinodactyly, single transverse palmar crease. Growth parameters: height, 135 cm (<3rd %ile; short stature); weight, 35 kg (50th %ile); BMI, 19.20; OFC, 53 cm (25th-50th %ile). Family history: father with ASD; brother with language delay but no ASD (also inherited 16p11.2 deletion from autistic father).
 Mental retardation. WISC IQ score of 46.
 19268776
 19490630
  221854
 Unknown
 Deletion
 No
  smol_19_ASD/DD/ID_discovery_cases-case1
 7 yrs.
 F
 ASD, developmental delay, and intellectual disability
 Birth/neonatal history: uneventful pregnancy; born at 39 weeks gestation; birth weight -0.5 SD, length -1.5 SD, head circumference +0.5 SD. Developmental milestones: speech delay (few words association at 3 years, no sentences); no motor delay. Motor and muscloskeletal evaluation: global hypotonia noted at 4 months of age. Behavioral/psychiatric evaluation: pervasive developmental disorder; autism/autistic spectrum features (poor eye contact, lack of social interaction, hyperactivity); aggressive behavior, impulsivity/TADAH. Brain imaging: enlargement and highly irregular disposition of the uppe-vermis fissures and lower-vermis flattening detected at 5 years. Visual evaluation: horizontal gaze nystagmus noted at 4 months of age. Dysmorphic features: none. Growth parameters: weight 18.9 kg (+1 SD), height 115 cm (+1.5 SD), and head circumference 49 cm (-2 SD) at age of 5 years 6 months. Family history: only child of unrelated parents; father had learning difficulties with normal intelligence (14q11.2 duplication is about 30% mosaic in the case's father).
 Mild intellectual disability (VCI 30, VSI 103, FRI 74, PSI 56)
 21031081
 21431826
  400746
 GRCh38
 Duplication
 Yes
  smol_19_ASD/DD/ID_discovery_cases-case2
 4 yrs.
 M
 Developmental delay
 Developmental delay: normal motor development; delayed speech and language development with severe expressive language disorder and comprehension difficulties. Behavioral/psychiatric evaluation: hetero-aggressive behavior, impulsivity, attention deficit, concentration deficit. Growth parameters: head circumference 10th %ile. Family history: older brother with comprehension difficulties.
 WIPPSI IV test results: VCI 89, VSI 88, FRI 97, PSI 94.
 21154664
 21431600
  276937
 GRCh38
 Duplication
 Yes
  smyk_16_DD/ADHD_discovery_cases-case1
 8 yrs.
 M
 Developmental delay and ADHD
 Birth/neonatal history: pregnancy complicated by hemorrhage at 8-9 weeks of gestation, maternal anemia, and infection; case born at 37 weeks of gestation by spontaneous vaginal delivery; birth weight of 2500 g (25th-50th %ile), length of 48 cm (>50th %ile), and head circumference of 33 cm (50th %ile); adaption process complicated by severe jaundice, fluid and electrolyte imbalances, diminished activity, and reluctance to feed; intraventricular hemorrhage (IVH) detected by brain ultrasonography; massive regurgitation and vomiting observed during neonatal period. Developmental milestones: normal acquisition of gross motor milestones; limited fine motor skills; cognitive impairment; delayed language skills. Lanaguge and communication evaluation: slurred speech with distorted sounds. Behavioral/psychiatric evaluation: behavioral problems; diagnosis of combined type ADHD at age of 7 years. EEG: normal. Additional medical history: history of frequent infections; diagnosed with hypothyroidism by neonatal screening (requires permanent thyroid hormone supplementation). Dysmorphic features: flat facial profile, micrognathia, epicanthal folds, rounded eyebrows, short nose with broad raised tip and broad nasal bridge, low set and posteriorly rotated ears, wide mouth with a tented and narrow upper lip, prominent lower lip, supernumerary nipple on left side of chest. Growth parameters: normal; height of 129 cm (25th %ile), head circumference of 54 cm (75th %ile). Family history: first child born to healthy non-related parents; unremarkable family history.
 Cognitive skills reported to be inappropriate for his age
 21038933
 21484280
  445348
 GRCh38
 Duplication
 No
  stolerman_16_ASD/DD_discovery_cases-case1
 9 yrs.
 M
 ASD and developmental delay
 Case received formal diagnosis of ASD (administrated parts of ADOS Module 1 and CARS). Birth/neonatal history: born full term without major prenatal complications; birth weight of 3515 g (50th-75th %ile) and length of 52 cm (75th %ile); no major postnatal complications or congenital findings. Developmental milestones: seemingly normal development until age of 9 months; sitting at 9 months, walking after 18 months, failure to develop speech appropriately by 26 months; delays in fine motor skills. Lanaguge and communication evaluation: some vocalizations of some monotone sounds; limited speech at 26 months. Motor and musculoskeletal evaluation: able to use pincer grasp to secure items, feed himself using fingers, and drink from a sippy cup; motor skills included climbing and running; some toe-walking behavior at 26 months. Behavioral/psychiatric evaluation: formal diagnoses of disruptive behavior disorder and pica; abnormal social interactions (did not related to children his own age and unable to appreciate social cues, but showed some enjoyment in his mother's attention and interaction), aggressive behavior, poor eye contact, stereotypic behaviors by 26 months; repetitive behaviors; hyperactivity; overly reactive to change or events; easily frustrated and over-stimulated; temper tantrums; little awareness of potential dangers; some improvement by age 4 with medication and behavioral therapy. Additional medical history: history of otitis media, pneumonia, eosinophilic esophagitis, and gastroesophageal reflux that resolved at a young age. Dysmorphic featuresL non-dysmorphic in appearance with the exception of some widely-spaced teeth. Growth parameters: height, weight, and head circumference within normal limits at age of 26 months. Family history: older male sibling with diagnosis of high-functioning ASD (genetic results for this sibling not reported).
 Global developmental delay. Bayley Scales of Infant and Toddler Development (Third Edition) evaluation results: cognitive score of 60 (<1st %ile), language score of 47 (<1st %ile). Vineland Adaptive Behavior Scale (Second Edition) evaluation results: composite score of 61 (<1st %ile), communication score of 56 (<1st %ile), daily living skills in the low range (score of 67, 1st %ile), socialization score of 56 (<1st %ile), and motor skills score of 74 (4th %ile).
 21395637
 21399944
  4308
 GRCh38
 Deletion
 Yes
  terrone_13_ID/ASD_discovery_cases-case1
 21 yrs.
 F
 Intellectual disability and autistic features
 ADI-R scores: Reciprocal Social Interaction score of 19 (autism cut-off of 10), Communication Impairment score of 16 (autism cut-off of 8), Repetitive Behaviors and Stereotyped Patterns score of 10 (autism cut-off of 3). ADOS scores: Communication and Social Interaction score of 20 (cut-off of 12). Vineland Adaptive Behavior Scales: deficient scores in all four domains tested (communication, daily living skills, socialization, and motor skills). Birth/neonatal history: born at 40 weeks of gestation after uneventful pregnancy and delivery; birth weight of 2,650 KG (3rd-10th %ile), length of 48 cm (3rd-10th %ile), and head circumference of 33 cm (10th %ile); clinical examination in infancy showed developmental delay with mild hypotonia; atrial septal defect that closed spontaneously. Motor and musculoskeletal evaluation: right dorso-lumbar scoliosis and kyphosis confirmed by spinal X-rays, mild muscle hypotonia, bilateral hyperactive knee jerks, broad-based ataxic gait. Behavioral/psychiatric evaluation: autistic features. Brain imaging: brain MRI showed schisis of posterior arch of the atlas wiht positional asymmetry of the dens. Visual evaluation: hypoplastic and pale optic disc, normal visual evoked potentials. Dysmorphic features: distinctive facial gestalt with broad nasal bridge continuning to forehead, highly arched eyebrows, prominent glabella, downslanting palpebral fissures, ptosis, short philtrum, mild retrognathia, low-set ears with mild curled helix, small hands with tapering fingers, genu valgum, hallux valgus, 2-3 cutaneous syndactyly of toes. Growth parameters: severe obesity; weight of 107.5 kg (>95th %ile) with BMI of 43.6 kg/m2, height of 158 cm (10th-25th %ile), and head circumference of 56 cm (50th-75th %ile). Family history: fourth child of healthy non-consanguineous parents.
 Intellectual disability; full-scale IQ score of 45 (Wechsler Adult Intelligence Scale/WAIS-III)
 19788445
 22675219
  2890000
 Unknown
 Deletion
 No
  vaags_11_ASD_replication_cases_2-probandF4-003
 3 yrs. 6 mos.
 M
 Autism
 Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay
 Leiter-R IQ: incomplete (test attempted but proband failed to complete)
 19749129
 19953518
  204390
 GRCh38
 Duplication
 No
  wang_18_TS_discovery_cases-case25044.p1
 N/A
 N/A
 Tourette syndrome
 Tourette syndrome proband from phase 1 cohort; no additional clinical information available
 
 21074655
 21082499
  7845
 GRCh38
 Duplication
 Yes
  yin_16_ASD_discovery_cases-case459
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 23960089
 23975608
  15520
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case460
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 23960089
 23975608
  15520
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case461
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 23960089
 23975608
  15520
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case462
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 24031424
 24031780
  357
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case463
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 334305
 345674
  11370
 GRCh38
 Duplication
 No
  yuan_23_ASD_discovery_cases-qma02118d000
 NA
 NA
 ASD
 Case diagnosed with ASD according to DSM-IV criteria.
 
 21342786
 21386426
  43641
 GRCh38
 Duplication
 No
  yuen_17_ASD_discovery_cases-case2-1375-003
 N/A
 N/A
 ASD
 Case cohort: The Autism Simplex Collection . Clinical description: allergies
 
 21381842
 21411841
  30000
 GRCh38
 Duplication
 Yes
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1375-003
 N/A
 M
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 21387079
 21410149
  23071
 GRCh38
 Duplication
 Yes

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  brandler_18_ASD_discovery_controls-controlSSC09800
  N/A
  F
  Control
  Control from SSC_phase1 cohort
 
  22930911
  22932128
  1218
  GRCh38
  Deletion
  Yes
  engchuan_15_ASD_discovery_controls-controlB201628_1007841172
  N/A
  N/A
  Control
  No previous psychiatric history
 
  21229699
  21262481
  32783
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902580_902580
  N/A
  N/A
  Control
  No previous psychiatric history
 
  20499485
  20826214
  326730
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902825_902825
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22679295
  22795061
  115767
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-105102427
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  21995819
  22465334
  469516
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-107107567
  N/A
  N/A
  Control
  Ethnicity: Mixed Race
  N/A
  21995819
  22532596
  536778
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-1105102542
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  21894433
  22431810
  537378
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-11510113081
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  22029393
  22565894
  536502
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-11910113021
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  21995819
  22532596
  536778
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-12907107979
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  21995819
  22532596
  536778
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-14710112915
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  22029393
  22532596
  503204
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-29005103467
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  22029393
  22499046
  469654
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-33006106538
  N/A
  N/A
  Control
  Ethnicity: Asian
  N/A
  21995819
  22565894
  570076
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-35208110427
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  21961834
  22398523
  436690
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-35706106616
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  21995819
  22532596
  536778
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-37506106691
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  21995819
  22499046
  503228
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-38308110558
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  21961834
  22465334
  503501
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-38606106778
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  21928682
  22532596
  603915
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-40804101794
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  21995819
  22398523
  402705
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-46506107005
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  21995819
  22532596
  536778
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-50406107159
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  21995819
  22532596
  536778
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-57305104494
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  21995819
  22499046
  503228
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-59905104552
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  21995819
  22532596
  536778
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-6608109280
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  21961834
  22431810
  469977
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-8808109366
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  22029393
  22465334
  435942
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-9409110993
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  21995819
  22499046
  503228
  GRCh38
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1617
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  21361384
  21405885
  44502
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1800
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  20401000
  20416499
  15500
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split850
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  20401000
  20416499
  15500
  Unknown
  Duplication
  No
  krumm_13_ASD_discovery_controls-control11766.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 11766. SRS score of 42.
 
  20770150
  20802068
  31919
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control13912.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 13912. SRS score of 44.
 
  22422218
  22459477
  37260
  GRCh38
  Deletion
  No (not tested)
  krumm_15_ASD_discovery_controls-control11033.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22438961
  22469648
  30688
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11074.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22438200
  22457066
  18867
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11167.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22148064
  22497740
  349677
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11339.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22438961
  22502314
  63354
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11395.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22226437
  22505489
  279053
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11415.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22320163
  22479604
  159442
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11432.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22449069
  22488675
  39607
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11484.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22314161
  22466877
  152717
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11501.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22438961
  22456768
  17808
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11766.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  20770150
  20802068
  31919
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11895.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22320163
  22463212
  143050
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11920.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22438961
  22516354
  77394
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12063.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22070365
  22494308
  423944
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12099.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22438961
  22514021
  75061
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12121.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22422518
  22507747
  85230
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12358.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22168104
  22505489
  337386
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12373.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22320163
  22499771
  179609
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12650.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22052493
  22508682
  456190
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12832.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22226437
  22483387
  256951
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13057.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22086127
  22476930
  390804
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13073.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22086127
  22496288
  410162
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13163.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22773609
  22776318
  2710
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13447.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21868836
  22509426
  640591
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13608.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22438961
  22479604
  40644
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13613.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22479501
  22499771
  20271
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13692.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  20223709
  20243766
  20058
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13874.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22438961
  22459179
  20219
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13922.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22095724
  22496288
  400565
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14023.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22112095
  22489866
  377772
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control14076.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22314461
  22494010
  179550
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control14082.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22070365
  22502612
  432248
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control14090.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22438500
  22459179
  20680
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control14101.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22422518
  22463212
  40695
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control14239.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22320163
  22499771
  179609
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control14311.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22450064
  22495992
  45929
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14478.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22271645
  22475696
  204052
  GRCh38
  Deletion
  Yes
  levy_11_ASD_discovery_controls-11362.s1
  NA
  F
  Control
  NA
  NA
  20706716
  20773297
  66582
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-11766.s1
  NA
  F
  Control
  NA
  NA
  20755691
  20869753
  114063
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C33646A
  N/A
  M
  Control
  NIMH Control (NIMH ID 83300)
 
  21327623
  21330387
  2765
  GRCh38
  Deletion
  Yes
  poultney_13_ASD_discovery_controls-control04C36281A
  N/A
  F
  Control
  NIMH Control (NIMH ID 65565)
 
  22304054
  22449125
  145072
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control05C38812A
  N/A
  F
  Control
  NIMH Control (NIMH ID 76987)
 
  21211808
  21234195
  22388
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C40139A
  N/A
  F
  Control
  NIMH Control (NIMH ID 97018)
 
  21211221
  21234195
  22975
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C40533A
  N/A
  F
  Control
  NIMH Control (NIMH ID 17203)
 
  22123527
  22168988
  45462
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control05C41827
  N/A
  F
  Control
  NIMH Control (NIMH ID 49525)
 
  22096322
  22502292
  405971
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11033.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  21581164
  21587012
  5849
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11073.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  23984157
  24014851
  30695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11098.s1
  5.7
  F
  Control (matched sibling)
  NA
  NA
  23960040
  24020396
  60357
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11108.s1
  10.3
  M
  Control (matched sibling)
  NA
  NA
  23960040
  24020396
  60357
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11245.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  20238941
  20241529
  2589
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11290.s1
  13.4
  F
  Control (matched sibling)
  NA
  NA
  21387921
  21400639
  12719
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11401.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  23984157
  23996316
  12160
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11401.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  20746911
  20768978
  22068
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11766.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  20754767
  20870300
  115534
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11818.s1
  14.3
  F
  Control (matched sibling)
  NA
  NA
  21583386
  21590210
  6825
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11941.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  23984157
  23996316
  12160
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11954.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  21820676
  21839496
  18821
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12227.s1
  10.3
  M
  Control (matched sibling)
  NA
  NA
  22625942
  22628613
  2672
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12435.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  22625942
  22628613
  2672
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12515.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  23984157
  24020396
  36240
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12518.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  21387921
  21400639
  12719
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12518.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  21563842
  21566493
  2652
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12578.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  22789712
  22791483
  1772
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12592.s1
  10.1
  F
  Control (matched sibling)
  NA
  NA
  21335443
  21409347
  73905
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12598.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  23984157
  23996316
  12160
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12651.s1
  15.8
  M
  Control (matched sibling)
  NA
  NA
  22625942
  22628613
  2672
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13162.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  21439685
  21459117
  19433
  GRCh38
  Deletion
  No
  yin_16_ASD_discovery_controls-control1
  N/A
  N/A
  Control
  Individual from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 
  23960089
  24033326
  73238
  GRCh38
  Duplication
  No
  yin_16_ASD_discovery_controls-control10
  N/A
  N/A
  Control
  Individual from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 
  23960089
  24033326
  73238
  GRCh38
  Deletion
  No
  yin_16_ASD_discovery_controls-control11
  N/A
  N/A
  Control
  Individual from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 
  23960089
  24033326
  73238
  GRCh38
  Deletion
  No
  yin_16_ASD_discovery_controls-control12
  N/A
  N/A
  Control
  Individual from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 
  23960089
  24033326
  73238
  GRCh38
  Deletion
  No
  yin_16_ASD_discovery_controls-control13
  N/A
  N/A
  Control
  Individual from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 
  23960089
  24033326
  73238
  GRCh38
  Deletion
  No
  yin_16_ASD_discovery_controls-control14
  N/A
  N/A
  Control
  Individual from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 
  23960089
  24033326
  73238
  GRCh38
  Deletion
  No
  yin_16_ASD_discovery_controls-control15
  N/A
  N/A
  Control
  Individual from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 
  23960089
  24033326
  73238
  GRCh38
  Deletion
  No
  yin_16_ASD_discovery_controls-control2
  N/A
  N/A
  Control
  Individual from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 
  23960089
  24033326
  73238
  GRCh38
  Duplication
  No
  yin_16_ASD_discovery_controls-control3
  N/A
  N/A
  Control
  Individual from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 
  23960089
  24033326
  73238
  GRCh38
  Duplication
  No
  yin_16_ASD_discovery_controls-control4
  N/A
  N/A
  Control
  Individual from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 
  23960089
  24033326
  73238
  GRCh38
  Duplication
  No
  yin_16_ASD_discovery_controls-control5
  N/A
  N/A
  Control
  Individual from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 
  23960089
  24033326
  73238
  GRCh38
  Duplication
  No
  yin_16_ASD_discovery_controls-control6
  N/A
  N/A
  Control
  Individual from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 
  23960089
  24033326
  73238
  GRCh38
  Deletion
  No
  yin_16_ASD_discovery_controls-control7
  N/A
  N/A
  Control
  Individual from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 
  23960089
  24033326
  73238
  GRCh38
  Deletion
  No
  yin_16_ASD_discovery_controls-control8
  N/A
  N/A
  Control
  Individual from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 
  23960089
  24033326
  73238
  GRCh38
  Deletion
  No
  yin_16_ASD_discovery_controls-control9
  N/A
  N/A
  Control
  Individual from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 
  23960089
  24033326
  73238
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 alayadhi_16_ASD_discovery_cases-caseAUT5-1
 qPCR
 
 Paternal
 Multiplex
 
 OR11K2P,OR4Q3,OR4H12P,OR4N1P,OR4K6P,OR4K3,OR4K2,OR4K5,OR4K1,OR4M1,OR4K4P,OR4K16P,OR4N2
 
 alayadhi_16_ASD_discovery_cases-caseAUT5-2
 qPCR
 
 Paternal
 Multiplex
 
 OR11K2P,OR4Q3,OR4H12P,OR4N1P,OR4K6P,OR4K3,OR4K2,OR4K5,OR4K1,OR4M1,OR4K4P,OR4K16P,OR4N2
 
 allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case37
 
 
 Unknown
 
 Unknown
 BNIP3P6,OR11H12,ARHGAP42P5,LINC02297,RPL22P20
 
 breckpot_16_ID/catatonia_discovery_cases-case6
 
 
 Unknown
 
 Unknown
 CKAP2P1,RNU6-252P,SMARCE1P3,OR5AU1,LINC00641,RPGRIP1,CHD8,ZNF219,TMEM253,HNRNPC,SUPT16H
 
 celestino-soper_11_ASD_discovery_cases-11533
 
 
 Unknown
 Simplex
 NA
 PRMT5-AS1,PRMT5
 
 chilian_13_DD/ID_discovery_cases-case1
 
 
 Unknown
 Possibly simplex (no info on 1st child)
 Unknown
 OR4K6P,OR4K3,OR4K2,OR4K5,OR4K1,OR4K4P,OR4N2
 
 chilian_13_DD/ID_discovery_cases-case1
 
 
 Unknown
 Possibly simplex (no info on 1st child)
 Unknown
 OR4Q3,OR4H12P,OR4M1,OR4N2
 
 davis_09_ASD_discovery_cases-AU002105
 
 
 Unknown
 Unknown
 Unknown
 OR4Q3, ORM1, OR4N2, OR4K2, OR4K5, OR4K1
 
 davis_09_ASD_discovery_cases-AU0039303
 
 
 Unknown
 Unknown
 Unknown
 OR4Q3, ORM1, OR4N2, OR4K2, OR4K5, OR4K1, OR4K15, OR4K14, OR4K13
 
 davis_09_ASD_discovery_cases-AU016205
 
 
 Unknown
 Unknown
 Unknown
 OR4N2, OR4K2, OR4K5, OR4K1
 
 davis_09_ASD_discovery_cases-AU019705
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 davis_09_ASD_discovery_cases-AU021903
 
 
 Unknown
 Unknown
 Unknown
 OR4N2, OR4K2,OR4K5, OR4K1, OR4K15, OR4K14
 
 davis_09_ASD_discovery_cases-AU028905
 
 
 Unknown
 Unknown
 Unknown
 OR4N2, OR4K5, OR4K2, OR4K1
 
 davis_09_ASD_discovery_cases-AU0616304
 
 
 Unknown
 Unknown
 Unknown
 OR4N2, OR4K2, OR4K5, OR4K1
 
 davis_09_ASD_discovery_cases-AU067703
 
 
 Unknown
 Multiplex
 Unknown
 OR4N2, OR4K5, OR4K2, OR4K1
 
 davis_09_ASD_discovery_cases-AU0875301
 
 
 Unknown
 Unknown
 Unknown
 OR4N2, OR4K5, OR4K2, OR4K1
 
 davis_12_ASD_discovery_cases-case1
 
 
 Unknown
 Simplex
 Unknown
 DHRS4-AS1,DHRS4L2
 
 eisfeldt_24_ASD_discovery_cases-caseFam4-1
 
 
 Paternal
 Simplex
 Not segregated
 CHD8,SNORD8,SNORD9,SUPT16H
 PCR analysis of RNA from proband-derived LCLs verified an expressed SUPT16H-CHD8 fusion transcript;
 engchuan_15_ASD_discovery_cases-case1050_3
 
 
 De novo
 
 
 EDDM3A,EDDM3B,RNASE6,RNASE1
 
 engchuan_15_ASD_discovery_cases-case14011_210
 
 
 Unknown
 
 
 RPGRIP1
 
 engchuan_15_ASD_discovery_cases-case20033_1227001
 
 
 Unknown
 
 
 OR4K6P,OR4K3,OR4K2,OR4K5,OR4K1,OR4K4P
 
 engchuan_15_ASD_discovery_cases-case20046_1262001
 
 
 Unknown
 
 
 OR4K6P,OR4K3,OR4K2,OR4K5,OR4K1,OR4K4P,OR4N2
 
 engchuan_15_ASD_discovery_cases-case20051_1275001
 
 
 Unknown
 
 
 OR4K6P,OR4K3,OR4K2,OR4K5,OR4K1,OR4K4P,OR4K16P
 
 engchuan_15_ASD_discovery_cases-case20052_1277001
 
 
 Unknown
 
 
 OR4K6P,OR4K3,OR4K2,OR4K5,OR4K1,OR4K4P,OR4K16P
 
 engchuan_15_ASD_discovery_cases-case20053_1279001
 
 
 Unknown
 
 
 OR4K6P,OR4K3,OR4K2,OR4K5,OR4K1,OR4K4P,OR4K16P
 
 engchuan_15_ASD_discovery_cases-case20066_1318001
 
 
 Unknown
 
 
 OR4K6P,OR4K3,OR4K2,OR4K5,OR4K1,OR4K4P,OR4K16P
 
 engchuan_15_ASD_discovery_cases-case20077_1347001
 
 
 Unknown
 
 
 OR4K6P,OR4K3,OR4K2,OR4K5,OR4K1,OR4K4P
 
 engchuan_15_ASD_discovery_cases-case20083_1374001
 
 
 Unknown
 
 
 OR4K6P,OR4K3,OR4K2,OR4K5,OR4K1,OR4K4P,OR4K16P
 
 engchuan_15_ASD_discovery_cases-case20104_1474001
 
 
 Unknown
 
 
 OR4K6P,OR4K3,OR4K2,OR4K5,OR4K1,OR4K4P,OR4N2
 
 engchuan_15_ASD_discovery_cases-case20114_1547001
 
 
 Unknown
 
 
 OR4K6P,OR4K3,OR4K2,OR4K5,OR4K1,OR4K4P,OR4N2
 
 engchuan_15_ASD_discovery_cases-case20116_1557001
 
 
 Unknown
 
 
 OR4K6P,OR4K3,OR4K2,OR4K5,OR4K1,OR4K4P,OR4N2
 
 engchuan_15_ASD_discovery_cases-case2184_1
 
 
 Unknown
 
 
 RNASE3,RNASE2,RN7SL189P,METTL17,SLC39A2,NDRG2
 
 engchuan_15_ASD_discovery_cases-case4308_1
 
 
 Unknown
 
 
 OR4K15,OR4Q2,OR4K14,OR4K13
 
 fan_18_DD/ID_discovery_cases-subject3
 
 
 Unknown
 
 Unknown
 TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAV37
 
 feliciano_19_ASD_discovery_cases-caseSP0027065
 
 
 Paternal
 Simplex
 
 OXA1L,SLC7A7
 null
 girirajan_11_ASD_discovery_cases-Si197
 
 
 Unknown
 Simplex
 
 OR4K6P,OR4K3,OR4K2,OR4K5,OR4K1,OR4K15,OR4Q2,OR4K14,OR4K13,OR4U1P,OR4L1,RNA5SP380,OR4T1P,OR4N5,PSMB7P1,GTF2IP22,OR11G1P,OR11P1P,OR11G2,OR11H5P,OR11H6,OR11H7,OR4K4P,OR4K16P,OR4K17,OR4N2
 
 girirajan_11_ASD_discovery_cases-Si238
 
 
 Maternal
 Simplex
 
 TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAJ10,TRAJ9,TRAJ8,TRAJ7,TRAJ6,TRAJ5,TRAJ4,TRAJ3,TRAJ2,TRAJ1,TRAC,LINC02332,TRAV21,TRAV37,DAD1,ABHD4,OR6J1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case43670
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 SNORD9,SNORD8,EIF4EBP1P1,RN7SL650P,METTL3,RBBP4P5,OR10G1P,UBE2NP1,TRAV1-1,OR10G2,ARL6IP1P1,OR4E1,TRAV2,TRAV3,TRAV4,TRAV5,RPL4P1,TRAV6,TRAV7,TRAV8-1,TRAV9-1,TRAV10,TRAV11,TRAV12-1,TRAV8-2,TRAV8-3,TRAV13-1,TRAV12-2,TRAV8-4,TRAV8-5,TRAV13-2,TRAV14DV4,TRAV9-2,TRAV15,TRAV12-3,TRAV8-6,TRAV16,TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAJ10,TRAJ9,TRAJ8,TRAJ7,TRAJ6,TRAJ5,TRAJ4,TRAJ3,TRAJ2,TRAJ1,TRAC,LINC02332,OR6E1P,OXA1L,RPGRIP1,CHD8,RAB2B,SALL2,OR10G3,TRAV1-2,OR4E2,TRAV21,TRAV37,DAD1,ABHD4,OR6J1,HNRNPC,SUPT16H,TOX4
 
 girirajan_13a_ASD_discovery_cases-11242.p1
 
 
 Unknown
 Simplex
 Unknown
 OR4E1,TRAV2,TRAV3,TRAV4,TRAV5,RPL4P1,TRAV6,TRAV7,TRAV8-1,TRAV9-1,TRAV10,TRAV11,TRAV12-1,TRAV8-2,TRAV8-3,TRAV13-1,TRAV12-2,TRAV8-4,TRAV8-5,TRAV13-2,TRAV14DV4,TRAV9-2,OR4E2
 
 girirajan_13b_ASD_discovery_cases-12308109510
 
 
 Unknown
 Unknown
 Unknown
 TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAV21,TRAV37
 
 girirajan_13b_ASD_discovery_cases-16909111203
 
 
 Unknown
 Unknown
 Unknown
 TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAV21,TRAV37
 
 girirajan_13b_ASD_discovery_cases-17408109789
 
 
 Unknown
 Unknown
 Unknown
 TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAV21,TRAV37
 
 girirajan_13b_ASD_discovery_cases-20207108119
 
 
 Unknown
 Unknown
 Unknown
 TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAV21,TRAV37
 
 girirajan_13b_ASD_discovery_cases-20604100546
 
 
 Unknown
 Unknown
 Unknown
 TRAV13-1,TRAV12-2,TRAV8-4,TRAV8-5,TRAV13-2,TRAV14DV4,TRAV9-2,TRAV15,TRAV12-3,TRAV8-6,TRAV16,TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAV21,TRAV37
 
 girirajan_13b_ASD_discovery_cases-20708109930
 
 
 Unknown
 Unknown
 Unknown
 TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAV21,TRAV37
 
 girirajan_13b_ASD_discovery_cases-21105103264
 
 
 Unknown
 Unknown
 Unknown
 TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRAV21,TRAV37
 
 girirajan_13b_ASD_discovery_cases-21908109957
 
 
 Unknown
 Unknown
 Unknown
 TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAV21,TRAV37
 
 girirajan_13b_ASD_discovery_cases-24609111458
 
 
 Unknown
 Unknown
 Unknown
 TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAJ10,TRAJ9,TRAJ8,TRAJ7,TRAJ6,TRAJ5,TRAJ4,TRAJ3,TRAJ2,TRAJ1,TRAC,LINC02332,TRAV21,TRAV37,DAD1
 
 girirajan_13b_ASD_discovery_cases-25504100812
 
 
 Unknown
 Unknown
 Unknown
 TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAV21,TRAV37
 
 girirajan_13b_ASD_discovery_cases-26507108418
 
 
 Unknown
 Unknown
 Unknown
 TRAV13-1,TRAV12-2,TRAV8-4,TRAV8-5,TRAV13-2,TRAV14DV4,TRAV9-2,TRAV15,TRAV12-3,TRAV8-6,TRAV16,TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRAV21,TRAV37
 
 girirajan_13b_ASD_discovery_cases-29806106231
 
 
 Unknown
 Unknown
 Unknown
 TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAJ10,TRAJ9,TRAJ8,TRAJ7,TRAJ6,TRAJ5,TRAJ4,TRAJ3,TRAJ2,TRAJ1,TRAC,LINC02332,TRAV37,DAD1,ABHD4,OR6J1
 
 girirajan_13b_ASD_discovery_cases-3205102622
 
 
 Unknown
 Unknown
 Unknown
 TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAJ10,TRAJ9,TRAJ8,TRAJ7,TRAJ6,TRAJ5,TRAJ4,TRAJ3,TRAJ2,TRAJ1,TRAC,LINC02332,TRAV21,TRAV37,DAD1,ABHD4
 
 girirajan_13b_ASD_discovery_cases-3309110754
 
 
 Unknown
 Unknown
 Unknown
 TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAV21,TRAV37
 
 girirajan_13b_ASD_discovery_cases-3508108947
 
 
 Unknown
 Unknown
 Unknown
 TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAJ10,TRAJ9,TRAJ8,TRAJ7,TRAJ6,TRAJ5,TRAJ4,TRAJ3,TRAJ2,TRAJ1,TRAC,LINC02332,TRAV21,TRAV37,DAD1,ABHD4
 
 girirajan_13b_ASD_discovery_cases-36904100666
 
 
 Unknown
 Unknown
 Unknown
 TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAV21,TRAV37
 
 girirajan_13b_ASD_discovery_cases-41206106842
 
 
 Unknown
 Unknown
 Unknown
 TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAJ10,TRAJ9,TRAJ8,TRAJ7,TRAJ6,TRAJ5,TRAJ4,TRAJ3,TRAJ2,TRAJ1,TRAC,LINC02332,TRAV21,TRAV37,DAD1,ABHD4,OR6J1
 
 girirajan_13b_ASD_discovery_cases-42805103614
 
 
 Unknown
 Unknown
 Unknown
 TRAV13-1,TRAV12-2,TRAV8-4,TRAV8-5,TRAV13-2,TRAV14DV4,TRAV9-2,TRAV15,TRAV12-3,TRAV8-6,TRAV16,TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAV21,TRAV37
 
 girirajan_13b_ASD_discovery_cases-43405103622
 
 
 Unknown
 Unknown
 Unknown
 TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAV21,TRAV37
 
 girirajan_13b_ASD_discovery_cases-45905104126
 
 
 Unknown
 Unknown
 Unknown
 TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAV21,TRAV37
 
 girirajan_13b_ASD_discovery_cases-47306107043
 
 
 Unknown
 Unknown
 Unknown
 TRAV11,TRAV12-1,TRAV8-2,TRAV8-3,TRAV13-1,TRAV12-2,TRAV8-4,TRAV8-5,TRAV13-2,TRAV14DV4,TRAV9-2,TRAV15,TRAV12-3,TRAV8-6,TRAV16,TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAV21,TRAV37
 
 girirajan_13b_ASD_discovery_cases-47906107057
 
 
 Unknown
 Unknown
 Unknown
 TRAV8-4,TRAV8-5,TRAV13-2,TRAV14DV4,TRAV9-2,TRAV15,TRAV12-3,TRAV8-6,TRAV16,TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAV21,TRAV37
 
 girirajan_13b_ASD_discovery_cases-48804101682
 
 
 Unknown
 Unknown
 Unknown
 TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAV21,TRAV37
 
 girirajan_13b_ASD_discovery_cases-49906107136
 
 
 Unknown
 Unknown
 Unknown
 TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAJ10,TRAJ9,TRAJ8,TRAJ7,TRAJ6,TRAJ5,TRAJ4,TRAJ3,TRAJ2,TRAJ1,TRAC,LINC02332,TRAV21,TRAV37,DAD1
 
 girirajan_13b_ASD_discovery_cases-50604101832
 
 
 Unknown
 Unknown
 Unknown
 TRAV11,TRAV12-1,TRAV8-2,TRAV8-3,TRAV13-1,TRAV12-2,TRAV8-4,TRAV8-5,TRAV13-2,TRAV14DV4,TRAV9-2,TRAV15,TRAV12-3,TRAV8-6,TRAV16,TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAJ10,TRAJ9,TRAJ8,TRAJ7,TRAJ6,TRAJ5,TRAJ4,TRAJ3,TRAJ2,TRAJ1,TRAC,LINC02332,TRAV21,TRAV37,DAD1
 
 girirajan_13b_ASD_discovery_cases-59704102165
 
 
 Unknown
 Unknown
 Unknown
 TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAV21,TRAV37
 
 girirajan_13b_ASD_discovery_cases-60504102200
 
 
 Unknown
 Unknown
 Unknown
 TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAV37
 
 girirajan_13b_ASD_discovery_cases-60705104612
 
 
 Unknown
 Unknown
 Unknown
 TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAV21,TRAV37
 
 girirajan_13b_ASD_discovery_cases-70104102471
 
 
 Unknown
 Unknown
 Unknown
 TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAV21,TRAV37
 
 girirajan_13b_ASD_discovery_cases-7806105460
 
 
 Unknown
 Unknown
 Unknown
 TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAV21,TRAV37
 
 girirajan_13b_ASD_discovery_cases-8203100466
 
 
 Unknown
 Unknown
 Unknown
 TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAJ10,TRAJ9,TRAJ8,TRAJ7,TRAJ6,TRAJ5,TRAJ4,TRAJ3,TRAJ2,TRAJ1,TRAC,LINC02332,TRAV37,DAD1,ABHD4,OR6J1
 
 girirajan_13b_ASD_discovery_cases-8205102886
 
 
 Unknown
 Unknown
 Unknown
 TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAV21,TRAV37
 
 girirajan_13b_ASD_discovery_cases-8508109357
 
 
 Unknown
 Unknown
 Unknown
 TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRAV21,TRAV37
 
 girirajan_13b_ASD_discovery_cases-8705102962
 
 
 Unknown
 Unknown
 Unknown
 TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAJ10,TRAJ9,TRAJ8,TRAJ7,TRAJ6,TRAJ5,TRAJ4,TRAJ3,TRAJ2,TRAJ1,TRAC,LINC02332,TRAV21,TRAV37,DAD1
 
 girirajan_13b_ASD_discovery_cases-909110667
 
 
 Unknown
 Unknown
 Unknown
 TRAV13-1,TRAV12-2,TRAV8-4,TRAV8-5,TRAV13-2,TRAV14DV4,TRAV9-2,TRAV15,TRAV12-3,TRAV8-6,TRAV16,TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAV21,TRAV37
 
 girirajan_13b_ASD_discovery_cases-9105102949
 
 
 Unknown
 Unknown
 Unknown
 TRAV9-2,TRAV15,TRAV12-3,TRAV8-6,TRAV16,TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAV21,TRAV37
 
 girirajan_13b_ASD_discovery_cases-9805103469
 
 
 Unknown
 Unknown
 Unknown
 TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAJ10,TRAJ9,TRAJ8,TRAJ7,TRAJ6,TRAJ5,TRAJ4,TRAJ3,TRAJ2,TRAJ1,TRAC,LINC02332,TRAV21,TRAV37,DAD1,ABHD4,OR6J1
 
 han_22_ASD/DD/ID_discovery_cases-case16D1511
 
 
 Unknown
 
 
 APEX1,ANG,TRAV8-3,TRAV19,TRAV5,TRAV9-1,TRAV3,OR4E2,TRAV13-1,TRAV8-2,OR10G3,TRAV8-5,TRAV8-4,TRAV1-1,OR10G2,TRAV12-2,TRAV15,TRAV18,TRAV10,TRAV1-2,TRAV12-3,TRAV2,OR10G1P,TRAV8-6,OR4E1,TRAV9-2,TRAV7,TRAV11,TRAV14DV4,TRAV8-1,TRAV12-1,TRAV17,TRAV16,TRAV13-2,TRAV4,SLC39A2,ZNF219,OSGEP,ARHGEF40,NDRG2,CCNB1IP1,CHD8,RPGRIP1,METTL3,METTL17,EDDM3B,RPPH1,RAB2B,RNASE7,TTC5,PIP4P1,OR11H6,OR4L1,RNASE8,TPPP2,KLHL33,RNASE11,HNRNPC,LINC00641,OR11P1P,RNASE10,OR6S1,RANBP20P,SNORD8,EIF4EBP1P1,OR4U1P,OR11H5P,OR11H4,OR4N5,OR4K17,OR11G1P,OR4T1P,RNASE9,OR11H7,OR5AU1,OR11G2,RNASE13,SMARCE1P3,RNASE2CP,RNASE12,TMEM253,RPL4P1,SNORD9,EDDM3DP,SNORD126,PNP,SETP1,PTCD2P1,ARL6IP1P1,RBBP4P5,UBE2NP1,CKAP2P1,PSMB7P1,RNA5SP382,RNA5SP380,RNASE3,RNASE2,SALL2,RNASE6,RNASE4,RNASE1,MIR6717,TEP1,TRAV6,GTF2IP22,RNU6-252P,RN7SL650P,RN7SL189P,SNORA79B,EGILA,PARP2,TOX4,SUPT16H,EDDM3A
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000910
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 GTF2IP22,OR11G1P,OR11P1P,OR11G2,OR11H5P,OR11H6,OR11H7,OR11H4,SNORA79B,SNORD126,RPPH1,RNA5SP382,APEX1,PIP4P1,PNP,RNASE10,PTCD2P1,SETP1,RNASE9,RNASE12,OR6S1,RANBP20P,EDDM3DP,EDDM3A,EDDM3B,RNASE6,RNASE1,RNASE3,RNASE2,RN7SL189P,METTL17,SLC39A2,MIR6717,TPPP2,RNASE13,RNASE7,RNASE8,CKAP2P1,RNU6-252P,SMARCE1P3,SNORD9,SNORD8,EIF4EBP1P1,RN7SL650P,METTL3,RBBP4P5,OR10G1P,UBE2NP1,TRAV1-1,OR10G2,ARL6IP1P1,OR4E1,TRAV2,TRAV3,TRAV4,TRAV5,RPL4P1,TRAV6,TRAV7,TRAV8-1,TRAV9-1,TRAV10,TRAV11,TRAV12-1,TRAV8-2,TRAV8-3,TRAV13-1,TRAV12-2,TRAV8-4,TRAV8-5,TRAV13-2,TRAV14DV4,TRAV9-2,TRAV15,TRAV12-3,TRAV8-6,TRAV16,TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAJ10,TRAJ9,TRAJ8,TRAJ7,TRAJ6,TRAJ5,TRAJ4,TRAJ3,TRAJ2,TRAJ1,TRAC,LINC02332,OR6E1P,OXA1L,MRPL52,REM2,MIR4707,AJUBA,PSMB11,C14orf119,RNU6-1138P,RNU6-1046P,H3F3AP2,BCL2L2,PABPN1,IL25,CMTM5,MIR208A,MIR208B,TTC5,PARP2,TEP1,KLHL33,RNASE11,RNASE4,ANG,NDRG2,ARHGEF40,OR5AU1,LINC00641,RPGRIP1,CHD8,RAB2B,SALL2,OR10G3,TRAV1-2,OR4E2,TRAV21,TRAV37,DAD1,ABHD4,OR6J1,MMP14,LRP10,RBM23,PRMT5-AS1,PRMT5,HAUS4,C14orf93,PSMB5,CDH24,LMLN2,CEBPE,SLC7A8,HOMEZ,PPP1R3E,BCL2L2-PABPN1,SLC22A17,EFS,MYH6,MYH7,CCNB1IP1,OSGEP,ZNF219,TMEM253,HNRNPC,SUPT16H,TOX4,SLC7A7,RNF212B,ACIN1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001143
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TRAV14DV4,TRAV9-2,TRAV15,TRAV12-3,TRAV8-6,TRAV16,TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRAV21,TRAV37
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001243
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 H3F3AP2,BCL2L2,PABPN1,IL25,CMTM5,MIR208A,MIR208B,HOMEZ,PPP1R3E,BCL2L2-PABPN1,SLC22A17,EFS,MYH6,MYH7,NGDN,ZFHX2-AS1,ZFHX2,THTPA,AP1G2,JPH4,DHRS2,RNF212B
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001624
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 PNP,RNASE10,PTCD2P1,SETP1,RNASE9,RNASE12,OR6S1,RANBP20P,EDDM3DP,EDDM3A,EDDM3B,RNASE6,RNASE1,RNASE3,RNASE2,RN7SL189P,METTL17,SLC39A2,MIR6717,TPPP2,RNASE13,RNASE7,RNASE8,CKAP2P1,RNU6-252P,SMARCE1P3,SNORD9,SNORD8,EIF4EBP1P1,RN7SL650P,METTL3,RBBP4P5,OR10G1P,UBE2NP1,RNASE11,RNASE4,ANG,NDRG2,ARHGEF40,OR5AU1,LINC00641,RPGRIP1,CHD8,RAB2B,SALL2,OR10G3,ZNF219,TMEM253,HNRNPC,SUPT16H,TOX4
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001684
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 RNASE2,RN7SL189P,METTL17,SLC39A2,MIR6717,TPPP2,RNASE13,RNASE7,RNASE8,CKAP2P1,RNU6-252P,SMARCE1P3,SNORD9,SNORD8,EIF4EBP1P1,RN7SL650P,METTL3,RBBP4P5,NDRG2,ARHGEF40,OR5AU1,LINC00641,RPGRIP1,CHD8,RAB2B,SALL2,OR10G3,ZNF219,TMEM253,HNRNPC,SUPT16H,TOX4
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001779
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 SNORD9,SNORD8,EIF4EBP1P1,RN7SL650P,RPGRIP1,CHD8,HNRNPC,SUPT16H
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002045
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 OR4H12P,OR4N1P,OR4K6P,OR4K3,OR4K2,OR4K5,OR4K1,OR4K15,OR4Q2,OR4K14,OR4K13,OR4U1P,OR4L1,RNA5SP380,OR4T1P,OR4N5,PSMB7P1,GTF2IP22,OR11G1P,OR11P1P,OR11G2,OR11H5P,OR11H6,OR11H7,OR11H4,SNORA79B,SNORD126,RPPH1,RNA5SP382,APEX1,PIP4P1,PNP,RNASE10,PTCD2P1,SETP1,RNASE9,RNASE12,OR6S1,RANBP20P,EDDM3DP,EDDM3A,EDDM3B,RNASE6,RNASE1,RNASE3,RNASE2,RN7SL189P,METTL17,SLC39A2,MIR6717,TPPP2,RNASE13,RNASE7,RNASE8,CKAP2P1,RNU6-252P,SMARCE1P3,SNORD9,SNORD8,EIF4EBP1P1,RN7SL650P,METTL3,RBBP4P5,OR10G1P,UBE2NP1,TRAV1-1,OR10G2,ARL6IP1P1,OR4E1,TRAV2,TRAV3,TRAV4,TRAV5,RPL4P1,TRAV6,TRAV7,TRAV8-1,TRAV9-1,TRAV10,TRAV11,TRAV12-1,TRAV8-2,TRAV8-3,TRAV13-1,TRAV12-2,TRAV8-4,TRAV8-5,TRAV13-2,TRAV14DV4,TRAV9-2,TRAV15,TRAV12-3,TRAV8-6,TRAV16,TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAJ10,TRAJ9,TRAJ8,TRAJ7,TRAJ6,TRAJ5,TRAJ4,TRAJ3,TRAJ2,TRAJ1,TRAC,LINC02332,OR6E1P,OR4M1,OR4K4P,OR4K16P,OR4K17,TTC5,PARP2,TEP1,KLHL33,RNASE11,RNASE4,ANG,NDRG2,ARHGEF40,OR5AU1,LINC00641,RPGRIP1,CHD8,RAB2B,SALL2,OR10G3,TRAV1-2,OR4E2,TRAV21,TRAV37,DAD1,ABHD4,OR6J1,OR4N2,CCNB1IP1,OSGEP,ZNF219,TMEM253,HNRNPC,SUPT16H,TOX4
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002494
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 EIF4EBP1P1,RN7SL650P,METTL3,CHD8,RAB2B,TOX4
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002653
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 OR4N5,PSMB7P1,GTF2IP22,OR11G1P,OR11P1P,OR11G2,OR11H5P,OR11H6,OR11H7,OR11H4,SNORA79B,SNORD126,RPPH1,RNA5SP382,APEX1,PIP4P1,PNP,RNASE10,PTCD2P1,SETP1,RNASE9,RNASE12,OR6S1,RANBP20P,EDDM3DP,EDDM3A,EDDM3B,RNASE6,RNASE1,RNASE3,RNASE2,RN7SL189P,METTL17,SLC39A2,MIR6717,TPPP2,RNASE13,RNASE7,RNASE8,CKAP2P1,RNU6-252P,SMARCE1P3,TTC5,PARP2,TEP1,KLHL33,RNASE11,RNASE4,ANG,NDRG2,ARHGEF40,OR5AU1,LINC00641,RPGRIP1,CCNB1IP1,OSGEP,ZNF219,TMEM253,HNRNPC,SUPT16H
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004128
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNASE8,CKAP2P1,RNU6-252P,SMARCE1P3,NDRG2,ARHGEF40,OR5AU1,LINC00641,RPGRIP1,ZNF219,TMEM253,HNRNPC,SUPT16H
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004648
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAJ10,TRAJ9,TRAJ8,TRAJ7,TRAJ6,TRAJ5,TRAJ4,TRAJ3,TRAJ2,TRAJ1,TRAC,LINC02332,TRAV21,TRAV37,DAD1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005401
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNASE2,RN7SL189P,METTL17,SLC39A2,MIR6717,TPPP2,RNASE13,RNASE7,RNASE8,CKAP2P1,RNU6-252P,SMARCE1P3,SNORD9,SNORD8,EIF4EBP1P1,RN7SL650P,METTL3,RBBP4P5,OR10G1P,UBE2NP1,TRAV1-1,OR10G2,ARL6IP1P1,OR4E1,NDRG2,ARHGEF40,OR5AU1,LINC00641,RPGRIP1,CHD8,RAB2B,SALL2,OR10G3,TRAV1-2,OR4E2,ZNF219,TMEM253,HNRNPC,SUPT16H,TOX4
 
 kanduri_15_ASD_discovery_cases-case2974
 
 
 Maternal
 Unknown
 Unknown
 ECRP (non-coding RNA, exonic)
 
 koochek_06_ASD_discovery_cases-subjectII:3
 FISH
 
 Unknown (Complex-result of unbalanced maternally-transmitted translocation)
 Simplex
 Segregated
 Approx. gene content: OR4K13,OR4L1,OR4K17,OR4N5,OR11G2,OR11H6,OR11H4,TTC5,CCNB1IP1,PARP2,TEP1,KLHL33,OSGEP,APEX1,TMEM55B,PNP,RNASE10,RNASE9,RNASE11,RNASE12,OR6S1,ANG,RNASE4,EDDM3A,EDDM3B,RNASE6,RNASE1
 
 koochek_06_ASD_discovery_cases-subjectIII:1
 FISH
 
 Unknown (Complex-result of unbalanced maternally-transmitted translocation)
 Simplex
 Segregated
 Approx. gene content: OR4K13,OR4L1,OR4K17,OR4N5,OR11G2,OR11H6,OR11H4,TTC5,CCNB1IP1,PARP2,TEP1,KLHL33,OSGEP,APEX1,TMEM55B,PNP,RNASE10,RNASE9,RNASE11,RNASE12,OR6S1,ANG,RNASE4,EDDM3A,EDDM3B,RNASE6,RNASE1
 
 krumm_13_ASD_discovery_cases-case11094.p1
 
 
 Paternal
 Simplex
 Segregated
 RNASE3,RNASE2,RN7SL189P,METTL17,SLC39A2,MIR6717,TPPP2,RNASE13,RNASE7,RNASE8,CKAP2P1,RNU6-252P,NDRG2,ARHGEF40,OR5AU1,ZNF219,TMEM253
 
 krumm_13_ASD_discovery_cases-case11242.p1
 
 
 Paternal
 Simplex
 Segregated
 OR4E1,TRAV2,TRAV3,TRAV4,TRAV5,RPL4P1,TRAV6,TRAV7,TRAV8-1,TRAV9-1,TRAV10,TRAV11,TRAV12-1,TRAV8-2,TRAV8-3,TRAV13-1,TRAV12-2,TRAV8-4,TRAV8-5,TRAV13-2,TRAV14DV4,TRAV9-2,OR4E2
 
 krumm_13_ASD_discovery_cases-case12460.p1
 
 
 Maternal
 Simplex
 Segregated
 EDDM3A,EDDM3B,RNASE6,RNASE1,RNASE3,RNASE2
 
 krumm_13_ASD_discovery_cases-case13139.p1
 
 
 Paternal
 Simplex
 Segregated
 TRAV2,TRAV3
 
 krumm_15_ASD_discovery_cases-case11028.p1
 Illumina 1M
 
 De novo
 Simplex
 Segregated
 TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32
 
 krumm_15_ASD_discovery_cases-case11056.p1
 Illumina 1M
 
 De novo
 Simplex
 Segregated
 TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38
 
 krumm_15_ASD_discovery_cases-case11069.p1
 Illumina 1M
 
 De novo
 Simplex
 Segregated
 TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40
 
 krumm_15_ASD_discovery_cases-case11094.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 RNASE3,RNASE2,RN7SL189P,METTL17,SLC39A2,MIR6717,TPPP2,RNASE13,RNASE7,RNASE8,CKAP2P1,RNU6-252P,NDRG2,ARHGEF40,OR5AU1,ZNF219,TMEM253
 
 krumm_15_ASD_discovery_cases-case11156.p1
 Illumina 1M
 
 De novo
 Simplex
 Not segregated (CNV in unaffected sibling)
 TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAV37
 
 krumm_15_ASD_discovery_cases-case11196.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 OR11H6,OR11H7,OR11H4
 
 krumm_15_ASD_discovery_cases-case11242.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 OR4E1,TRAV2,TRAV3,TRAV4,TRAV5,RPL4P1,TRAV6,TRAV7,TRAV8-1,TRAV9-1,TRAV10,TRAV11,TRAV12-1,TRAV8-2,TRAV8-3,TRAV13-1,TRAV12-2,TRAV8-4,TRAV8-5,TRAV13-2,TRAV14DV4,TRAV9-2,OR4E2
 
 krumm_15_ASD_discovery_cases-case11246.p1
 Illumina 1M
 
 De novo
 Simplex
 Segregated
 TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40
 
 krumm_15_ASD_discovery_cases-case11284.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 MIR208B,MYH6,MYH7
 
 krumm_15_ASD_discovery_cases-case11310.p1
 Illumina 1M
 
 De novo
 Simplex
 Not segregated (CNV in unaffected sibling)
 TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56
 
 krumm_15_ASD_discovery_cases-case11359.p1
 Illumina 1M
 
 De novo
 Simplex
 Segregated
 TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2
 
 krumm_15_ASD_discovery_cases-case11368.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 METTL17
 
 krumm_15_ASD_discovery_cases-case11375.p1
 Illumina 1M
 
 De novo
 Simplex
 Segregated
 TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3
 
 krumm_15_ASD_discovery_cases-case11501.p1
 Illumina 1M
 
 De novo
 Simplex
 Segregated
 TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAV37
 
 krumm_15_ASD_discovery_cases-case11512.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 RAB2B,TOX4
 
 krumm_15_ASD_discovery_cases-case11551.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 OR4K2,OR4K5,OR4K1,OR4K4P
 
 krumm_15_ASD_discovery_cases-case11572.p1
 Illumina 1M
 
 De novo
 Simplex
 Segregated
 TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAV37
 
 krumm_15_ASD_discovery_cases-case11599.p1
 Illumina 1M
 
 De novo
 Simplex
 Segregated
 TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAV37
 
 krumm_15_ASD_discovery_cases-case11601.p1
 Illumina 1MDuo
 
 De novo
 Simplex
 Segregated
 TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38
 
 krumm_15_ASD_discovery_cases-case11696.p1
 Illumina 1M
 
 De novo
 Simplex
 Segregated
 TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2
 
 krumm_15_ASD_discovery_cases-case11715.p1
 Illumina 1MDuo
 
 De novo
 Simplex
 Segregated
 TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAV37
 
 krumm_15_ASD_discovery_cases-case11722.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38
 
 krumm_15_ASD_discovery_cases-case11845.p1
 Illumina 1MDuo
 
 De novo
 Simplex
 Segregated
 TRAV8-4,TRAV8-5,TRAV13-2,TRAV14DV4,TRAV9-2,TRAV15,TRAV12-3,TRAV8-6,TRAV16,TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAV21,TRAV37
 
 krumm_15_ASD_discovery_cases-case11990.p1
 Illumina 1MDuo
 
 De novo
 Simplex
 Segregated
 TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36
 
 krumm_15_ASD_discovery_cases-case12081.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 TRAV39,TRAV40,TRAV41
 
 krumm_15_ASD_discovery_cases-case12238.p1
 Illumina 1MDuo
 
 De novo
 Simplex
 Not segregated (CNV in unaffected sibling)
 TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3
 
 krumm_15_ASD_discovery_cases-case12360.p1
 Illumina 1MDuo
 
 De novo
 Simplex
 Segregated
 TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3
 
 krumm_15_ASD_discovery_cases-case12366.p1
 Illumina 1MDuo
 
 De novo
 Simplex
 Not segregated (CNV in unaffected sibling)
 TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3
 
 krumm_15_ASD_discovery_cases-case12378.p1
 Illumina 1MDuo
 
 De novo
 Simplex
 Segregated
 TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAV37
 
 krumm_15_ASD_discovery_cases-case12440.p1
 Illumina 1MDuo
 
 De novo
 Simplex
 Segregated
 TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56
 
 krumm_15_ASD_discovery_cases-case12481.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAV37
 
 krumm_15_ASD_discovery_cases-case12507.p1
 Illumina 1MDuo
 
 De novo
 Simplex
 Segregated
 TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAV37
 
 krumm_15_ASD_discovery_cases-case12518.p1
 Illumina 1MDuo
 
 De novo
 Simplex
 Segregated
 TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2
 
 krumm_15_ASD_discovery_cases-case12565.p1
 Illumina 1MDuo
 
 De novo
 Simplex
 Segregated
 TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38
 
 krumm_15_ASD_discovery_cases-case12645.p1
 Illumina 1MDuo
 
 De novo
 Simplex
 Segregated
 TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40
 
 krumm_15_ASD_discovery_cases-case12651.p1
 Illumina 1MDuo
 
 De novo
 Simplex
 Segregated
 TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAV37
 
 krumm_15_ASD_discovery_cases-case13017.p1
 1M-Duov3
 
 De novo
 Simplex
 Not segregated (CNV in unaffected sibling)
 TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27
 
 krumm_15_ASD_discovery_cases-case13036.p1
 Illumina 1MDuo
 
 De novo
 Simplex
 Segregated
 TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3
 
 krumm_15_ASD_discovery_cases-case13047.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 TRAV39,TRAV40,TRAV41
 
 krumm_15_ASD_discovery_cases-case13058.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Segregated
 TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC
 
 krumm_15_ASD_discovery_cases-case13089.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 TRAV27,TRAV28,TRAV29DV5,TRAV30
 
 krumm_15_ASD_discovery_cases-case13150.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 TRAV39,TRAV40,TRAV41
 
 krumm_15_ASD_discovery_cases-case13163.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SLC7A7
 
 krumm_15_ASD_discovery_cases-case13166.p1
 Illumina 1MDuo
 
 De novo
 Simplex
 Not segregated (CNV in unaffected sibling)
 OR4K2,OR4K5,OR4K1,OR4K4P
 
 krumm_15_ASD_discovery_cases-case13207.p1
 1M-Duov3
 
 De novo
 Simplex
 Segregated
 TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3
 
 krumm_15_ASD_discovery_cases-case13557.p1
 1M-Duov3
 
 De novo
 Simplex
 Segregated
 TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAV37
 
 krumm_15_ASD_discovery_cases-case13577.p1
 1M-Duov3
 
 De novo
 Simplex
 Segregated
 TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAV37
 
 krumm_15_ASD_discovery_cases-case13621.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49
 
 krumm_15_ASD_discovery_cases-case13646.p1
 1M-Duov3
 
 De novo
 Simplex
 Segregated
 TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAV37
 
 krumm_15_ASD_discovery_cases-case13661.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 TRAV39,TRAV40
 
 krumm_15_ASD_discovery_cases-case13701.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Segregated
 TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAV21,TRAV37
 
 krumm_15_ASD_discovery_cases-case13720.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 TRAV39,TRAV40,TRAV41
 
 krumm_15_ASD_discovery_cases-case13752.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Segregated
 TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59
 
 krumm_15_ASD_discovery_cases-case13792.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Segregated
 TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAV21,TRAV37
 
 krumm_15_ASD_discovery_cases-case13814.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Not segregated (CNV in unaffected sibling)
 TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37
 
 krumm_15_ASD_discovery_cases-case13832.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Segregated
 TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAV37
 
 krumm_15_ASD_discovery_cases-case13888.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SLC7A7
 
 krumm_15_ASD_discovery_cases-case14009.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Segregated
 TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAV37
 
 krumm_15_ASD_discovery_cases-case14039.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Segregated
 TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAV37
 
 krumm_15_ASD_discovery_cases-case14072.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAV37
 
 krumm_15_ASD_discovery_cases-case14113.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 KLHL33,OSGEP
 
 krumm_15_ASD_discovery_cases-case14186.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Segregated
 TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAV37
 
 krumm_15_ASD_discovery_cases-case14201.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Segregated
 TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAV37
 
 krumm_15_ASD_discovery_cases-case14225.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Segregated
 TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAV37
 
 krumm_15_ASD_discovery_cases-case14237.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Not segregated (CNV in unaffected sibling)
 TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40
 
 krumm_15_ASD_discovery_cases-case14257.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Segregated
 TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61
 
 larson_17_ASD_discovery_cases-case18
 
 
 Unknown
 Simplex
 Unknown
 CKAP2P1,RNU6-252P,SMARCE1P3,OR5AU1,LINC00641,RPGRIP1,ZNF219,TMEM253,HNRNPC,SUPT16H
 
 leblond_12_ASD_discovery_cases-AUGB038_3
 
 
 Paternal
 Simplex
 
 ARHGAP42P4,OR11H2,OR11K2P,OR4Q3,OR4H12P,OR4N1P,OR4K6P,OR4K3,OR4K2,OR4K5,OR4K1,OR4M1,OR4K4P,OR4K16P,OR4N2
 
 levy_11_ASD_discovery_cases-11094.p1
 
 
 Paternal
 Simplex
 Segregated
 RNASE3,RNASE2,RN7SL189P,METTL17,SLC39A2,MIR6717,TPPP2,RNASE13,RNASE7,RNASE8,CKAP2P1,RNU6-252P,SMARCE1P3,NDRG2,ARHGEF40,OR5AU1,ZNF219,TMEM253
 
 levy_11_ASD_discovery_cases-11242.p1
 
 
 Paternal
 Simplex
 Segregated
 ARL6IP1P1,OR4E1,TRAV2,TRAV3,TRAV4,TRAV5,RPL4P1,TRAV6,TRAV7,TRAV8-1,TRAV9-1,TRAV10,TRAV11,TRAV12-1,TRAV8-2,TRAV8-3,TRAV13-1,TRAV12-2,TRAV8-4,TRAV8-5,TRAV13-2,TRAV14DV4,TRAV9-2,OR4E2
 
 levy_11_ASD_discovery_cases-11284.p1
 
 
 Maternal
 Simplex
 Segregated
 MIR208B,MYH6,MYH7
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown28
 
 
 Maternal
 Unknown
 Unknown
 RNASE4,ANG
 
 monteiro_19_ASD_discovery_cases_case27
 
 
 De novo
 
 
 OR6E1P,OXA1L,MRPL52,SLC7A7
 
 morrow_08_ASD_discovery_cases-case11101
 
 
 Paternal
 NA
 NA
 OR4Q3, OR4M1, OR4N2, OR4K2, OR4K5, OR4K1
 
 morrow_08_ASD_discovery_cases-case1603
 
 
 Maternal
 NA
 NA
 3' end of DAD1
 
 morrow_08_ASD_discovery_cases-case8601
 
 
 Maternal
 NA
 NA
 OR4K2, 0R4K1
 
 mosca_16_DCD_discovery_cases-case106003
 
 
 Unknown
 Unknown
 Unknown
 TRDV2,TRDD1,TRDD2
 
 mosca_16_DCD_discovery_cases-case109503
 
 
 Unknown
 Unknown
 Unknown
 TRDV2,TRDD1,TRDD2
 
 mosca_16_DCD_discovery_cases-case109503
 
 
 Unknown
 Unknown
 Unknown
 TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35
 
 mosca_16_DCD_discovery_cases-case117404
 
 
 Unknown
 Unknown
 Unknown
 TRDV2,TRDD1,TRDD2
 
 newbury_12_ASD/CAS_discovery_cases-case1
 
 
 Unknown
 Simplex
 Unknown (common in DGV)
 RNASE2
 
 nord_11_ASD_discovery_cases-216-1
 
 
 Paternal
 
 
 SLC7A7
 
 pfundt_16_NDD_discovery_cases-case23
 MLPA or MAQ
 
 De novo
 
 
 MYH7,NGDN,ZFHX2-AS1,ZFHX2,THTPA,AP1G2,JPH4
 
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient1
 
 
 Unknown
 Multi-generational
 Unknown
 TRAV8-5,TRAV13-2,TRAV14DV4,TRAV9-2,TRAV15,TRAV12-3,TRAV8-6,TRAV16,TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAV21,TRAV37
 
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
 
 
 Paternal
 Multi-generational
 Unknown
 OR4K3,OR4K2,OR4K5,OR4K1,OR4K4P
 
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient3
 
 
 Paternal
 Multi-generational
 Unknown
 MED15P1,RNU6-1239P,GRAMD4P4,OR11H13P,NF1P7,POTEM,DUXAP9,NBEAP5
 
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient4
 
 
 Maternal
 Multi-generational
 Unknown
 OR11H12,ARHGAP42P5,LINC02297,RPL22P20,MED15P1,RNU6-1239P,GRAMD4P4,OR11H13P,GRAMD4P3,RNU6-1268P,MED15P6,NF1P11,ARHGAP42P4,OR11H2,OR11K2P,OR4Q3,OR4H12P,OR4N1P,OR4K6P,OR4K3,OR4K2,OR4K5,OR4K1,NF1P10,NF1P7,POTEM,DUXAP9,DUXAP10,BMS1P17,POTEG,NF1P4,OR4M1,OR4K4P,NBEAP5,OR4N2
 
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient6
 
 
 Maternal
 Multi-generational
 Unknown
 TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRAV37
 
 pinto_10_ASD_discovery_cases-case1050_3
 Illumina550K,Affy5.0-Denovo
 
 De novo
 NA
 NA
 EDDM3A,EDDM3B,RNASE6,RNASE1
 
 pinto_14_ASD_discovery_cases2-case3576_4
 qPCR
 
 Paternal
 Unknown
 (not tested)
 TRAV25,TRAV26-1,TRAV8-7
 
 poultney_13_ASD_discovery_cases-case00HI1663A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 OR4K15,OR4Q2,OR4K14,OR4K13,OR4U1P,OR4L1,RNA5SP380,OR4T1P,OR4N5,PSMB7P1,GTF2IP22,OR11G1P,OR11P1P,OR11G2,OR11H5P,OR11H6,OR11H7,OR11H4,OR4K17
 
 poultney_13_ASD_discovery_cases-case04HI2802A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 HNRNPC
 
 poultney_13_ASD_discovery_cases-case05HI3629A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 HNRNPC
 
 poultney_13_ASD_discovery_cases-case05HI4308A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 HNRNPC
 
 poultney_13_ASD_discovery_cases-case05HI4726A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29
 
 poultney_13_ASD_discovery_cases-case98HI0311A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 HNRNPC
 
 poultney_13_ASD_discovery_cases-case99HI0748
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRAV37
 
 poultney_13_ASD_discovery_cases-case99HI0807A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 APEX1,PIP4P1,OSGEP
 
 poultney_13_ASD_discovery_cases-case99HI1157A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 EDDM3A,EDDM3B,RNASE6,RNASE1
 
 prasad_12_ASD_discovery_cases-case117368L
 
 
 Unknown
 Unknown
 Unknown
 MIR208B,MYH6,MYH7
 
 prasad_12_ASD_discovery_cases-case154624L
 
 
 Unknown
 Unknown
 Unknown
 OXA1L,SLC7A7
 
 prasad_12_ASD_discovery_cases-case60980L
 
 
 Unknown
 Unknown
 Unknown
 MIR208B,MYH6,MYH7
 
 prasad_12_ASD_discovery_cases-case71118
 
 
 Unknown
 Unknown
 Unknown
 OR11H4
 
 prasad_12_ASD_discovery_cases-case85024
 
 
 Unknown
 Unknown
 Unknown
 MIR208B,MYH6,MYH7
 
 prontera_14_ASD_discovery_cases-case1
 
 
 De novo
 
 Likely segregated
 SNORD9,SNORD8,EIF4EBP1P1,RN7SL650P,CHD8,RAB2B,SUPT16H
 
 qiao_09_ASD_discovery_cases-case5
 FISH; qPCR
 
 De novo
 Simplex
 
 OR4K13,OR4L1,OR4K17,OR4N5,OR11G2,OR11H6,OR11H4,TTC5,CCNB1IP1,PARP2,TEP1,KLHL33,OSGEP,APEX1,TMEM55B,PNP,RNASE10,RNASE9,RNASE11,RNASE12,OR6S1,ANG,RNASE4,EDDM3A,EDDM3B,RNASE6,RNASE1
 
 qiao_09_ASD_discovery_cases-case6
 FISH; qPCR
 
 De novo
 Simplex
 
 OR4K13,OR4L1,OR4K17,OR4N5,OR11G2,OR11H6,OR11H4,TTC5,CCNB1IP1,PARP2,TEP1,KLHL33,OSGEP,APEX1,TMEM55B,PNP,RNASE10,RNASE9,RNASE11,RNASE12,OR6S1,ANG,RNASE4,EDDM3A,EDDM3B,RNASE6,RNASE1
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1007-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 TRAV22,TRAV23DV6,TRDV1,TRAV24
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1060-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAV21,TRAV37
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1185-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 TRAV20,TRAV21
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1189-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1207-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 TRAV20,TRAV21
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-226a2
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRAV21,TRAV37
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-144
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 TRAV20,TRAV21
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-186
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 TRAV20,TRAV22,TRAV21
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-221
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 RNASE3
 
 sanders_11_ASD_discovery_cases-11050.p1
 
 
 Paternal
 Simplex (trio)
 NA
 DHRS4-AS1,DHRS4L2
 
 sanders_11_ASD_discovery_cases-11073.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DHRS4-AS1,DHRS4L2
 
 sanders_11_ASD_discovery_cases-11094.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RNASE3,RNASE2,RN7SL189P,METTL17,SLC39A2,MIR6717,TPPP2,RNASE13,RNASE7,RNASE8,CKAP2P1,RNU6-252P,SMARCE1P3,NDRG2,ARHGEF40,OR5AU1,ZNF219,TMEM253
 
 sanders_11_ASD_discovery_cases-11108.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DHRS4,DHRS4-AS1,DHRS4L2
 
 sanders_11_ASD_discovery_cases-11176.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 SLC7A7
 
 sanders_11_ASD_discovery_cases-11196.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 OR11H6,OR11H7,OR11H4
 
 sanders_11_ASD_discovery_cases-11242.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ARL6IP1P1,OR4E1,TRAV2,TRAV3,TRAV4,TRAV5,RPL4P1,TRAV6,TRAV7,TRAV8-1,TRAV9-1,TRAV10,TRAV11,TRAV12-1,TRAV8-2,TRAV8-3,TRAV13-1,TRAV12-2,TRAV8-4,TRAV8-5,TRAV13-2,TRAV14DV4,TRAV9-2,OR4E2
 
 sanders_11_ASD_discovery_cases-11245.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 OR11H4
 
 sanders_11_ASD_discovery_cases-11284.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 MIR208B,MYH6,MYH7
 
 sanders_11_ASD_discovery_cases-11398.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DHRS4-AS1,DHRS4L2
 
 sanders_11_ASD_discovery_cases-11459.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SLC7A7
 
 sanders_11_ASD_discovery_cases-11485.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DHRS4-AS1,DHRS4L2
 
 sanders_11_ASD_discovery_cases-11564.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11567.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11710.p1
 
 
 Paternal
 Simplex (trio)
 NA
 SUPT16H
 
 sanders_11_ASD_discovery_cases-11825.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11914.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11969.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 SNORD9,SNORD8,RPGRIP1,CHD8,SUPT16H
 
 sanders_11_ASD_discovery_cases-12180.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DHRS4-AS1,DHRS4L2
 
 sanders_11_ASD_discovery_cases-12211.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 SNORD9,SNORD8,RPGRIP1,CHD8,SUPT16H
 
 sanders_11_ASD_discovery_cases-12379.p1
 
 
 Paternal
 Simplex (trio)
 NA
 RBBP4P5
 
 sanders_11_ASD_discovery_cases-12426.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DHRS4-AS1,DHRS4L2
 
 sanders_11_ASD_discovery_cases-12435.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12517.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12597.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 DHRS4-AS1,DHRS4L2
 
 sanders_11_ASD_discovery_cases-12598.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DHRS4-AS1,DHRS4L2
 
 sanders_11_ASD_discovery_cases-12603.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DHRS4-AS1,DHRS4L2
 
 sanders_11_ASD_discovery_cases-12761.p1
 
 
 Maternal
 Simplex (trio)
 NA
 DHRS4-AS1,DHRS4L2
 
 sanders_11_ASD_discovery_cases-12894.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 SNORD9,CHD8
 
 sanders_11_ASD_discovery_cases-13016.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13072.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DHRS4-AS1,DHRS4L2
 
 sato_12_ASD_discovery_cases_2-family1caseIV-3
 
 Possibly maternal
 Unknown
 Multiplex (brother with Asperger)
 Unknown
 TRAV8-4,TRAV8-5,TRAV13-2,TRAV14DV4,TRAV9-2,TRAV15,TRAV12-3,TRAV8-6,TRAV16,TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAV21,TRAV37
 
 shen_10b_ASD_discovery_cases-caseII:5
 
 
 Both parents
 Simplex
 Unknown
 OR4Q3,OR4M1,OR4N2,OR4K2,OR4K5,OR4K1
 
 shen_10b_ASD_discovery_cases-caseIII:1
 
 Paternal
 Both parents
 Simplex (ASD), Multiplex (language delay)
 Not segregated
 OR4Q3,OR4M1,OR4N2,OR4K2,OR4K5,OR4K1
 
 smol_19_ASD/DD/ID_discovery_cases-case1
 qPCR
 
 Paternal
 
 
 TPPP2,RNASE13,RNASE7,RNASE8,CKAP2P1,RNU6-252P,SMARCE1P3,SNORD9,SNORD8,EIF4EBP1P1,RN7SL650P,NDRG2,ARHGEF40,OR5AU1,LINC00641,RPGRIP1,CHD8,ZNF219,TMEM253,HNRNPC,SUPT16H
 
 smol_19_ASD/DD/ID_discovery_cases-case2
 qPCR
 
 Unknown
 
 
 SMARCE1P3,SNORD9,SNORD8,EIF4EBP1P1,RN7SL650P,OR5AU1,LINC00641,RPGRIP1,CHD8,HNRNPC,SUPT16H
 
 smyk_16_DD/ADHD_discovery_cases-case1
 
 
 De novo
 Simplex
 Segregated
 RNASE7,RNASE8,CKAP2P1,RNU6-252P,SMARCE1P3,SNORD9,SNORD8,EIF4EBP1P1,RN7SL650P,NDRG2,ARHGEF40,OR5AU1,LINC00641,RPGRIP1,CHD8,RAB2B,ZNF219,TMEM253,HNRNPC,SUPT16H,TOX4
 
 stolerman_16_ASD/DD_discovery_cases-case1
 qPCR
 
 De novo
 Multiplex (older sibling with HFA)
 Unknown
 SNORD8,CHD8
 
 terrone_13_ID/ASD_discovery_cases-case1
 
 
 Unknown
 Unknown
 Unknown
 Estimated gene content: TTC5,CCNB1IP1,PARP2,TEP1,KLHL33,OSGEP,APEX1,TMEM55B,PNP,RNASE10,RNASE9,RNASE11,RNASE12,OR6S1,ANG,RNASE4,EDDM3A,EDDM3B,RNASE6,RNASE1,RNASE3,RNASE2,METTL17,SLC39A2,NDRG2,TPPP2,RNASE13,RNASE7,RNASE8,ARHGEF40,ZNF219,TMEM253,OR5AU1,HNRNPC,RPGRIP1,SUPT16H,CHD8,RAB2B,TOX4,METTL3,SALL2,OR10G3,OR10G2,OR4E2,DAD1,ABHD4,OXA1L,SLC7A7,MRPL52,MMP14,LRP10,REM2,RBM23,PRMT5,HAUS4,AJUBA,C14orf93,PSMB5,PSMB11,CDH24,ACIN1,C14orf119,CEBPE,SLC7A8
 
 vaags_11_ASD_replication_cases_2-probandF4-003
 
 
 Unknown
 Simplex
 Unknown
 OR4Q3,OR4H12P,OR4N1P,OR4K6P,OR4K3,OR4K2,OR4K5,OR4K1,OR4M1,OR4K4P,OR4N2
 
 wang_18_TS_discovery_cases-case25044.p1
 qPCR
 
 De novo
 
 
 ARHGEF40
 
 yin_16_ASD_discovery_cases-case459
 
 
 Unknown
 Unknown
 Unknown
 DHRS4,DHRS4-AS1,DHRS4L2
 
 yin_16_ASD_discovery_cases-case460
 
 
 Unknown
 Unknown
 Unknown
 DHRS4,DHRS4-AS1,DHRS4L2
 
 yin_16_ASD_discovery_cases-case461
 
 
 Unknown
 Unknown
 Unknown
 DHRS4,DHRS4-AS1,DHRS4L2
 
 yin_16_ASD_discovery_cases-case462
 
 
 Unknown
 Unknown
 Unknown
 
 
 yin_16_ASD_discovery_cases-case463
 
 
 Unknown
 Unknown
 Unknown
 
 
 yuan_23_ASD_discovery_cases-qma02118d000
 
 
 De novo
 
 
 CHD8,RPGRIP1,SUPT16H
 
 yuen_17_ASD_discovery_cases-case2-1375-003
 Affymetrix CytoScan HD
 
 Paternal
 Simplex
 Unknown
 SNORD9,SNORD8,CHD8,SUPT16H
 
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1375-003
 RT-qPCR or WGS
 
 Paternal
 
 
 SNORD9,SNORD8,CHD8
 null

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC09800
  PCR or SNP data validation
 
  Maternal
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB201628_1007841172
 
 
  Unknown
 
 
  HNRNPC
 
engchuan_15_ASD_discovery_controls-controlHABC_902580_902580
 
 
  Unknown
 
 
  RNASE10,PTCD2P1,SETP1,RNASE9,RNASE12,OR6S1,RANBP20P,EDDM3DP,EDDM3A,EDDM3B,RNASE6,RNASE1,RNASE11,RNASE4,ANG
 
engchuan_15_ASD_discovery_controls-controlHABC_902825_902825
 
 
  Unknown
 
 
  OR6E1P,OXA1L,SLC7A7
 
girirajan_13b_ASD_discovery_controls-105102427
 
 
  Unknown
 
 
  TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRAV21,TRAV37
 
girirajan_13b_ASD_discovery_controls-107107567
 
 
  Unknown
 
 
  TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAV21,TRAV37
 
girirajan_13b_ASD_discovery_controls-1105102542
 
 
  Unknown
 
 
  TRAV8-4,TRAV8-5,TRAV13-2,TRAV14DV4,TRAV9-2,TRAV15,TRAV12-3,TRAV8-6,TRAV16,TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRAV21,TRAV37
 
girirajan_13b_ASD_discovery_controls-11510113081
 
 
  Unknown
 
 
  TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAJ10,TRAJ9,TRAJ8,TRAJ7,TRAJ6,TRAJ5,TRAJ4,TRAJ3,TRAJ2,TRAJ1,TRAC,LINC02332,TRAV21,TRAV37,DAD1
 
girirajan_13b_ASD_discovery_controls-11910113021
 
 
  Unknown
 
 
  TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAV21,TRAV37
 
girirajan_13b_ASD_discovery_controls-12907107979
 
 
  Unknown
 
 
  TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAV21,TRAV37
 
girirajan_13b_ASD_discovery_controls-14710112915
 
 
  Unknown
 
 
  TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAV21,TRAV37
 
girirajan_13b_ASD_discovery_controls-29005103467
 
 
  Unknown
 
 
  TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAV21,TRAV37
 
girirajan_13b_ASD_discovery_controls-33006106538
 
 
  Unknown
 
 
  TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAJ10,TRAJ9,TRAJ8,TRAJ7,TRAJ6,TRAJ5,TRAJ4,TRAJ3,TRAJ2,TRAJ1,TRAC,LINC02332,TRAV21,TRAV37,DAD1
 
girirajan_13b_ASD_discovery_controls-35208110427
 
 
  Unknown
 
 
  TRAV12-3,TRAV8-6,TRAV16,TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRAV21,TRAV37
 
girirajan_13b_ASD_discovery_controls-35706106616
 
 
  Unknown
 
 
  TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAV21,TRAV37
 
girirajan_13b_ASD_discovery_controls-37506106691
 
 
  Unknown
 
 
  TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAV21,TRAV37
 
girirajan_13b_ASD_discovery_controls-38308110558
 
 
  Unknown
 
 
  TRAV12-3,TRAV8-6,TRAV16,TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRAV21,TRAV37
 
girirajan_13b_ASD_discovery_controls-38606106778
 
 
  Unknown
 
 
  TRAV9-2,TRAV15,TRAV12-3,TRAV8-6,TRAV16,TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAV21,TRAV37
 
girirajan_13b_ASD_discovery_controls-40804101794
 
 
  Unknown
 
 
  TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRAV21,TRAV37
 
girirajan_13b_ASD_discovery_controls-46506107005
 
 
  Unknown
 
 
  TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAV21,TRAV37
 
girirajan_13b_ASD_discovery_controls-50406107159
 
 
  Unknown
 
 
  TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAV21,TRAV37
 
girirajan_13b_ASD_discovery_controls-57305104494
 
 
  Unknown
 
 
  TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAV21,TRAV37
 
girirajan_13b_ASD_discovery_controls-59905104552
 
 
  Unknown
 
 
  TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAV21,TRAV37
 
girirajan_13b_ASD_discovery_controls-6608109280
 
 
  Unknown
 
 
  TRAV12-3,TRAV8-6,TRAV16,TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRAV21,TRAV37
 
girirajan_13b_ASD_discovery_controls-8808109366
 
 
  Unknown
 
 
  TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRAV21,TRAV37
 
girirajan_13b_ASD_discovery_controls-9409110993
 
 
  Unknown
 
 
  TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAV21,TRAV37
 
kanduri_15_ASD_discovery_controls-control_split1617
 
 
  Unknown
 
 
  ECRP (non-coding RNA, exonic)
 
kanduri_15_ASD_discovery_controls-control_split1800
 
 
  Unknown
 
 
  OR4K1
 
kanduri_15_ASD_discovery_controls-control_split850
 
 
  Unknown
 
 
  OR4K1
 
krumm_13_ASD_discovery_controls-control11766.s1
 
 
  Paternal
  Simplex
 
  EDDM3B,RNASE6,RNASE1
 
krumm_13_ASD_discovery_controls-control13912.s1
 
 
  Maternal
  Simplex
 
  TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3
 
krumm_15_ASD_discovery_controls-control11033.s1
  Illumina 1M
 
  De novo
 
 
  TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3
 
krumm_15_ASD_discovery_controls-control11074.s1
  Illumina 1M
 
  De novo
 
 
  TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2
 
krumm_15_ASD_discovery_controls-control11167.s1
  Illumina 1MDuo
 
  De novo
 
 
  TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAV37
 
krumm_15_ASD_discovery_controls-control11339.s1
  Illumina 1M
 
  Paternal
 
 
  TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38
 
krumm_15_ASD_discovery_controls-control11395.s1
  Illumina 1M
 
  De novo
 
 
  TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAV37
 
krumm_15_ASD_discovery_controls-control11415.s1
  Illumina 1M
 
  De novo
 
 
  TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56
 
krumm_15_ASD_discovery_controls-control11432.s1
  Illumina 1M
 
  De novo
 
 
  TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50
 
krumm_15_ASD_discovery_controls-control11484.s1
  Illumina 1M
 
  Maternal
 
 
  TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC
 
krumm_15_ASD_discovery_controls-control11501.s1
  Illumina 1M
 
  De novo
 
 
  TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2
 
krumm_15_ASD_discovery_controls-control11766.s1
  Illumina 1MDuo
 
  Paternal
 
 
  EDDM3B,RNASE6,RNASE1
 
krumm_15_ASD_discovery_controls-control11895.s1
  Illumina 1MDuo
 
  De novo
 
 
  TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC
 
krumm_15_ASD_discovery_controls-control11920.s1
  Illumina 1MDuo
 
  De novo
 
 
  TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27
 
krumm_15_ASD_discovery_controls-control12063.s1
  Illumina 1MDuo
 
  De novo
 
 
  TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAV37
 
krumm_15_ASD_discovery_controls-control12099.s1
  Illumina 1MDuo
 
  De novo
 
 
  TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29
 
krumm_15_ASD_discovery_controls-control12121.s1
  Illumina 1MDuo
 
  De novo
 
 
  TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34
 
krumm_15_ASD_discovery_controls-control12358.s1
  Illumina 1MDuo
 
  De novo
 
 
  TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAV37
 
krumm_15_ASD_discovery_controls-control12373.s1
  Illumina 1MDuo
 
  De novo
 
 
  TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40
 
krumm_15_ASD_discovery_controls-control12650.s1
  Illumina 1MDuo
 
  Paternal
 
 
  TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAV21,TRAV37
 
krumm_15_ASD_discovery_controls-control12832.s1
  Illumina 1MDuo
 
  De novo
 
 
  TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAV37
 
krumm_15_ASD_discovery_controls-control13057.s1
  Illumina 1MDuo
 
  De novo
 
 
  TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAV37
 
krumm_15_ASD_discovery_controls-control13073.s1
  Illumina 1MDuo
 
  De novo
 
 
  TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAV37
 
krumm_15_ASD_discovery_controls-control13163.s1
  1M-Duov3
 
  Maternal
 
 
  SLC7A7
 
krumm_15_ASD_discovery_controls-control13447.s1
  1M-Duov3
 
  De novo
 
 
  TRAV13-1,TRAV12-2,TRAV8-4,TRAV8-5,TRAV13-2,TRAV14DV4,TRAV9-2,TRAV15,TRAV12-3,TRAV8-6,TRAV16,TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAV21,TRAV37
 
krumm_15_ASD_discovery_controls-control13608.s1
  1M-Duov3
 
  De novo
 
 
  TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56
 
krumm_15_ASD_discovery_controls-control13613.s1
  Omni2.5-4v1
 
  De novo
 
 
  TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40
 
krumm_15_ASD_discovery_controls-control13692.s1
  Omni2.5-4v1
 
  Maternal
 
 
  OR11H6,OR11H7,OR11H4
 
krumm_15_ASD_discovery_controls-control13874.s1
  Omni2.5-4v1
 
  De novo
 
 
  TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3
 
krumm_15_ASD_discovery_controls-control13922.s1
  Omni2.5-4v1
 
  Maternal
 
 
  TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAV37
 
krumm_15_ASD_discovery_controls-control14023.s1
  Omni2.5-4v1
 
  De novo
 
 
  TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAV37
 
krumm_15_ASD_discovery_controls-control14076.s1
  Omni2.5-4v1
 
  De novo
 
 
  TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45
 
krumm_15_ASD_discovery_controls-control14082.s1
  Omni2.5-4v1
 
  De novo
 
 
  TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAV37
 
krumm_15_ASD_discovery_controls-control14090.s1
  Omni2.5-4v1
 
  De novo
 
 
  TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3
 
krumm_15_ASD_discovery_controls-control14101.s1
  Omni2.5-4v1
 
  De novo
 
 
  TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC
 
krumm_15_ASD_discovery_controls-control14239.s1
  Omni2.5-4v1
 
  De novo
 
 
  TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40
 
krumm_15_ASD_discovery_controls-control14311.s1
  Omni2.5-4v1
 
  Paternal
 
 
  TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43
 
krumm_15_ASD_discovery_controls-control14478.s1
  Omni2.5-4v1
 
  De novo
 
 
  TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61
 
levy_11_ASD_discovery_controls-11362.s1
 
 
  Maternal
  Simplex
  NA
  RANBP20P,EDDM3DP,EDDM3A,EDDM3B
 
levy_11_ASD_discovery_controls-11766.s1
 
 
  Paternal
  Simplex
  NA
  EDDM3B,RNASE6,RNASE1
 
poultney_13_ASD_discovery_controls-control04C33646A
  qPCR, Sanger sequencing
 
  Unknown
 
 
  RPGRIP1
 
poultney_13_ASD_discovery_controls-control04C36281A
 
 
  Unknown
 
 
  TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3
 
poultney_13_ASD_discovery_controls-control05C38812A
 
 
  Unknown
 
 
  HNRNPC
 
poultney_13_ASD_discovery_controls-control05C40139A
 
 
  Unknown
 
 
  HNRNPC
 
poultney_13_ASD_discovery_controls-control05C40533A
 
 
  Unknown
 
 
  TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30
 
poultney_13_ASD_discovery_controls-control05C41827
 
 
  Unknown
 
 
  TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAV37
 
sanders_11_ASD_discovery_controls-11033.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11073.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DHRS4-AS1,DHRS4L2
 
sanders_11_ASD_discovery_controls-11098.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DHRS4,DHRS4-AS1,DHRS4L2
 
sanders_11_ASD_discovery_controls-11108.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DHRS4,DHRS4-AS1,DHRS4L2
 
sanders_11_ASD_discovery_controls-11245.s1
 
 
  Paternal
  Simplex (quad)
  NA
  OR11H4
 
sanders_11_ASD_discovery_controls-11290.s1
 
 
  Unknown
  Simplex (quad)
  NA
  SNORD9,SNORD8,CHD8
 
sanders_11_ASD_discovery_controls-11401.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DHRS4-AS1,DHRS4L2
 
sanders_11_ASD_discovery_controls-11401.s1
 
 
  Paternal
  Simplex (quad)
  NA
  EDDM3A,EDDM3B
 
sanders_11_ASD_discovery_controls-11766.s1
 
 
  Paternal
  Simplex (quad)
  NA
  EDDM3B,RNASE6,RNASE1
 
sanders_11_ASD_discovery_controls-11818.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11941.s1
 
 
  Unknown
  Simplex (quad)
  NA
  DHRS4-AS1,DHRS4L2
 
sanders_11_ASD_discovery_controls-11954.s1
 
 
  Maternal
  Simplex (quad)
  NA
  TRAV10,TRAV11
 
sanders_11_ASD_discovery_controls-12227.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12435.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12515.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DHRS4-AS1,DHRS4L2
 
sanders_11_ASD_discovery_controls-12518.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SNORD9,SNORD8,CHD8
 
sanders_11_ASD_discovery_controls-12518.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RBBP4P5
 
sanders_11_ASD_discovery_controls-12578.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SLC7A7
 
sanders_11_ASD_discovery_controls-12592.s1
 
 
  Unknown
  Simplex (quad)
  NA
  SNORD9,SNORD8,RPGRIP1,CHD8,SUPT16H
 
sanders_11_ASD_discovery_controls-12598.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DHRS4-AS1,DHRS4L2
 
sanders_11_ASD_discovery_controls-12651.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13162.s1
 
 
  Unknown
  Simplex (quad)
  NA
  CHD8,RAB2B
 
yin_16_ASD_discovery_controls-control1
 
 
  Unknown
 
 
  DHRS4,DHRS4-AS1,DHRS4L2
 
yin_16_ASD_discovery_controls-control10
 
 
  Unknown
 
 
  DHRS4,DHRS4-AS1,DHRS4L2
 
yin_16_ASD_discovery_controls-control11
 
 
  Unknown
 
 
  DHRS4,DHRS4-AS1,DHRS4L2
 
yin_16_ASD_discovery_controls-control12
 
 
  Unknown
 
 
  DHRS4,DHRS4-AS1,DHRS4L2
 
yin_16_ASD_discovery_controls-control13
 
 
  Unknown
 
 
  DHRS4,DHRS4-AS1,DHRS4L2
 
yin_16_ASD_discovery_controls-control14
 
 
  Unknown
 
 
  DHRS4,DHRS4-AS1,DHRS4L2
 
yin_16_ASD_discovery_controls-control15
 
 
  Unknown
 
 
  DHRS4,DHRS4-AS1,DHRS4L2
 
yin_16_ASD_discovery_controls-control2
 
 
  Unknown
 
 
  DHRS4,DHRS4-AS1,DHRS4L2
 
yin_16_ASD_discovery_controls-control3
 
 
  Unknown
 
 
  DHRS4,DHRS4-AS1,DHRS4L2
 
yin_16_ASD_discovery_controls-control4
 
 
  Unknown
 
 
  DHRS4,DHRS4-AS1,DHRS4L2
 
yin_16_ASD_discovery_controls-control5
 
 
  Unknown
 
 
  DHRS4,DHRS4-AS1,DHRS4L2
 
yin_16_ASD_discovery_controls-control6
 
 
  Unknown
 
 
  DHRS4,DHRS4-AS1,DHRS4L2
 
yin_16_ASD_discovery_controls-control7
 
 
  Unknown
 
 
  DHRS4,DHRS4-AS1,DHRS4L2
 
yin_16_ASD_discovery_controls-control8
 
 
  Unknown
 
 
  DHRS4,DHRS4-AS1,DHRS4L2
 
yin_16_ASD_discovery_controls-control9
 
 
  Unknown
 
 
  DHRS4,DHRS4-AS1,DHRS4L2
 

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