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20q13.12CNV Type: Deletion-Duplication


Largest CNV size: 205300 bp

Statistics Box:
Number of Reports: 8


Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_replication_cases
 Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
 1979
 Cases diagnosed with ASD
 N/A
 N/A
 254
 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
 41348
 1
 0
 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
 172864
 8
 2
 10
 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
 6612
 1
 2
 3
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 3317
 9
 0
 9
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 205300
 0
 1
 1
 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
 15123
 0
 1
 1
 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
 56931
 20
 1
 21

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_replication_controls
 Unaffected individuals from the Simons Simplex 2 (SSC2) cohort (584 controls from simplex quad families)
 584
 Control (unaffected siblings from simplex quad families)
 N/A
 N/A
 254
 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
 221224
 14
 4
 18
 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
 21980
 2
 0
 2
 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
 3269
 1
 0
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 86961
 2
 3
 5
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 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)
 97747
 1
 1
 2
 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)
 15123
 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.
 
 105787
 16
 1
 17

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brandler_18_ASD_replication_cases
  N/A
 WGS
  Illumina HiSeq X10
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 davis_09_ASD_discovery_cases
  NA
 Array SNP
  Affymetrix 250K Nsp, Affymetrix 250K Syt
 HMM
 CNAG v2.0
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 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)
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 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
 
 

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  brandler_18_ASD_replication_controls
  N/A
  WGS
  Illumina HiSeq X10
  ForestSV, Lumpy, Manta, Mobster, SV2
 
  None
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  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)
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  qPCR
  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
 
 

Cases

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_replication_cases-caseAU3807302
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 47210381
 47210634
  254
 GRCh38
 Deletion
 No
  brandler_18_ASD_replication_cases-caseSSC00269
 N/A
 M
 ASD
 Case from SSC_phase2 cohort
 
 47210381
 47210634
  254
 GRCh38
 Deletion
 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).
 
 43770270
 43811618
  41348
 Unknown
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13056_663
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 44897496
 44942370
  44875
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13057_673
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 45708077
 45751832
  43756
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20109_1504002
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 45714903
 45749938
  35036
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20159_4009001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 45714903
 45749938
  35036
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20188_1727001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 45714903
 45749938
  35036
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case2163_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 45708077
 45751832
  43756
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5270_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 47733014
 47905878
  172865
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8463_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 45714903
 45749938
  35036
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8587_210
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 45714903
 45749938
  35036
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8638_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 45714903
 45749938
  35036
 GRCh38
 Deletion
 No
  krumm_13_ASD_discovery_cases-case11304.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11304. SRS score of 90.
 Full-scale IQ (FSIQ) score of 53.
 46599970
 46606582
  6613
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case11501.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11501. SRS score of 64.
 Full-scale IQ (FSIQ) score of 78.
 45722367
 45725636
  3270
 GRCh38
 Deletion
 No (not tested)
  krumm_13_ASD_discovery_cases-case12473.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12473. SRS score of 88.
 Full-scale IQ (FSIQ) score of 49.
 46599970
 46606582
  6613
 GRCh38
 Duplication
 No (not tested)
  krumm_15_ASD_discovery_cases-case11193.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 45722367
 45725636
  3270
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11501.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 45722367
 45725636
  3270
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11537.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 45722367
 45725636
  3270
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12208.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 45722367
 45725636
  3270
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13009.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 45722367
 45725684
  3318
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13082.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 45722367
 45725684
  3318
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13120.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 45722367
 45725684
  3318
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13303.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 45722367
 45725636
  3270
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13586.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 45722367
 45725636
  3270
 GRCh38
 Deletion
 Yes
  marshall_08_ASD_discovery_cases-SK0258-004
 NA
 M
 ASD
 NA
 NA
 47405849
 47611149
  205301
 GRCh38
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case47173L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 44170911
 44186033
  15123
 Unknown
 Duplication
 No
  sanders_11_ASD_discovery_cases-11193.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 125; non-verbal IQ, 138; verbal IQ, 91
 45722456
 45749938
  27483
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11290.p1
 11.3
 M
 ASD
 NA
 Full-scale IQ, 119; non-verbal IQ, 119; verbal IQ, 115
 43665240
 43700136
  34897
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11394.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 74; verbal IQ 87
 43665240
 43682448
  17209
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11501.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 71
 45722456
 45749938
  27483
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11537.p1
 14.3
 F
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 66; verbal IQ, 63
 45708285
 45749938
  41654
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11948.p1
 9.5
 F
 Autism
 NA
 Full-scale IQ, 52; non-verbal IQ, 62; verbal IQ, 46
 43665240
 43722171
  56932
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12033.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 102; verbal IQ, 73
 43665240
 43682448
  17209
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12041.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 119; verbal IQ, 87
 45537883
 45550333
  12451
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12208.p1
 7.4
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 118; verbal IQ, 89
 45722456
 45749938
  27483
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12281.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 99; verbal IQ, 117
 43665240
 43722171
  56932
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12404.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 50; verbal IQ, 57
 47451332
 47466905
  15574
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12423.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 115; verbal IQ, 82
 43665240
 43722171
  56932
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12454.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 82; verbal IQ, 62
 43665240
 43722171
  56932
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12582.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 73; verbal IQ, 45
 43665240
 43722171
  56932
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12634.p1
 4.2
 F
 Autism
 NA
 Full-scale IQ, 69; non-verbal IQ, 75; verbal IQ, 63
 43665240
 43722171
  56932
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12944.p1
 7.9
 M
 ASD
 NA
 Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 60
 43665240
 43682448
  17209
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13015.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
 43665240
 43682448
  17209
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13082.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 67; verbal IQ, 61
 45714903
 45749938
  35036
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13083.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 52; non-verbal IQ, 67; verbal IQ, 23
 45537883
 45549667
  11785
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13120.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 109; verbal IQ, 118
 45722456
 45749938
  27483
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13303.p1
 5.6
 F
 ASD
 NA
 Full-scale IQ, 101; non-verbal IQ, 107; verbal IQ, 90
 45722456
 45749420
  26965
 GRCh38
 Deletion
 No

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_replication_controls-controlSSC00272
  N/A
  F
  control
  Control from SSC_phase2 cohort
 
  47210381
  47210634
  254
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB928410_0067942587
  N/A
  N/A
  Control
  No previous psychiatric history
 
  43550805
  43772029
  221225
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB983089_1007842465
  N/A
  N/A
  Control
  No previous psychiatric history
 
  45708077
  45751832
  43756
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900036_900036
  N/A
  N/A
  Control
  No previous psychiatric history
 
  45714903
  45749938
  35036
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900056_900056
  N/A
  N/A
  Control
  No previous psychiatric history
 
  45714903
  45749938
  35036
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900324_900324
  N/A
  N/A
  Control
  No previous psychiatric history
 
  45714903
  45749938
  35036
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900359_900359
  N/A
  N/A
  Control
  No previous psychiatric history
 
  45714903
  45749938
  35036
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900496_900496
  N/A
  N/A
  Control
  No previous psychiatric history
 
  45714903
  45749938
  35036
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900624_900624
  N/A
  N/A
  Control
  No previous psychiatric history
 
  46796920
  46920988
  124069
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901030_901030
  N/A
  N/A
  Control
  No previous psychiatric history
 
  44899568
  44942370
  42803
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901057_901057
  N/A
  N/A
  Control
  No previous psychiatric history
 
  45714903
  45749938
  35036
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901166_901166
  N/A
  N/A
  Control
  No previous psychiatric history
 
  45714903
  45749938
  35036
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902554_902554
  N/A
  N/A
  Control
  No previous psychiatric history
 
  45714903
  45749938
  35036
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902566_902566
  N/A
  N/A
  Control
  No previous psychiatric history
 
  45714903
  45749938
  35036
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902597_902597
  N/A
  N/A
  Control
  No previous psychiatric history
 
  45714903
  45749938
  35036
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902664_902664
  N/A
  N/A
  Control
  No previous psychiatric history
 
  47733403
  47887972
  154570
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902844_902844
  N/A
  N/A
  Control
  No previous psychiatric history
 
  45714903
  45749938
  35036
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902882_902882
  N/A
  N/A
  Control
  No previous psychiatric history
 
  45714903
  45751832
  36930
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_903002_903002
  N/A
  N/A
  Control
  No previous psychiatric history
 
  45714903
  45749938
  35036
  GRCh38
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1592
  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
 
  44356194
  44378173
  21980
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split858
  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
 
  44356194
  44378173
  21980
  Unknown
  Deletion
  No
  krumm_13_ASD_discovery_controls-control13926.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 13926. SRS score of 41.
 
  45722367
  45725636
  3270
  GRCh38
  Deletion
  No (not tested)
  krumm_15_ASD_discovery_controls-control11236.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  46118343
  46123219
  4877
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11330.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  45722367
  45725636
  3270
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13036.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  45207053
  45294015
  86963
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13303.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  45722367
  45725636
  3270
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13800.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  45311588
  45316959
  5372
  GRCh38
  Duplication
  Yes
  poultney_13_ASD_discovery_controls-control04C28818A
  N/A
  F
  Control
  NIMH Control (NIMH ID 61693)
 
  45705861
  45724059
  18199
  GRCh38
  Deletion
  Yes
  poultney_13_ASD_discovery_controls-control05C43962
  N/A
  F
  Control
  NIMH Control (NIMH ID 74677)
 
  45207052
  45304799
  97748
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11023.s1
  10.4
  F
  Control (matched sibling)
  NA
  NA
  45722456
  45749938
  27483
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11117.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  43665240
  43722171
  56932
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11193.s1
  4.8
  F
  Control (matched sibling)
  NA
  NA
  45708881
  45751832
  42952
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11290.s1
  13.4
  F
  Control (matched sibling)
  NA
  NA
  43665240
  43722171
  56932
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11330.s1
  11.8
  F
  Control (matched sibling)
  NA
  NA
  45714903
  45749938
  35036
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11568.s1
  16.7
  F
  Control (matched sibling)
  NA
  NA
  45539574
  45550333
  10760
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11941.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  43665240
  43682448
  17209
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12033.s1
  12.2
  M
  Control (matched sibling)
  NA
  NA
  43665240
  43682448
  17209
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12281.s1
  18.1
  F
  Control (matched sibling)
  NA
  NA
  43665240
  43730843
  65604
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12323.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  43665240
  43682448
  17209
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12582.s1
  9.2
  M
  Control (matched sibling)
  NA
  NA
  43665240
  43722171
  56932
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12597.s1
  5.3
  F
  Control (matched sibling)
  NA
  NA
  43665240
  43722171
  56932
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12603.s1
  11.7
  M
  Control (matched sibling)
  NA
  NA
  45714903
  45749938
  35036
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12944.s1
  4.8
  M
  Control (matched sibling)
  NA
  NA
  43665240
  43682448
  17209
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13015.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  43665240
  43682448
  17209
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13036.s1
  10.2
  F
  Control (matched sibling)
  NA
  NA
  45201727
  45307515
  105789
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13303.s1
  17.5
  M
  Control (matched sibling)
  NA
  NA
  45714903
  45749938
  35036
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_replication_cases-caseAU3807302
 No validation step reported
 
 Paternal
 
 
 ZMYND8
 
 brandler_18_ASD_replication_cases-caseSSC00269
 No validation step reported
 
 Maternal
 
 
 ZMYND8
 
 davis_09_ASD_discovery_cases-AU019705
 
 
 Unknown
 Unknown
 Unknown
 WFDC13, SPINT4
 
 engchuan_15_ASD_discovery_cases-case13056_663
 
 
 Unknown
 
 
 YWHAB,PABPC1L,TOMM34
 
 engchuan_15_ASD_discovery_cases-case13057_673
 
 
 Unknown
 
 
 WFDC13,SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
 engchuan_15_ASD_discovery_cases-case20109_1504002
 
 
 Unknown
 
 
 SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
 engchuan_15_ASD_discovery_cases-case20159_4009001
 
 
 Unknown
 
 
 SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
 engchuan_15_ASD_discovery_cases-case20188_1727001
 
 
 Unknown
 
 
 SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
 engchuan_15_ASD_discovery_cases-case2163_1
 
 
 Unknown
 
 
 WFDC13,SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
 engchuan_15_ASD_discovery_cases-case5270_3
 
 
 Unknown
 
 
 RNU7-173P,SRMP1,RNA5SP486,RNU7-92P,SULF2
 
 engchuan_15_ASD_discovery_cases-case8463_202
 
 
 Unknown
 
 
 SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
 engchuan_15_ASD_discovery_cases-case8587_210
 
 
 Unknown
 
 
 SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
 engchuan_15_ASD_discovery_cases-case8638_201
 
 
 Unknown
 
 
 SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
 krumm_13_ASD_discovery_cases-case11304.p1
 
 
 Paternal
 Simplex
 Segregated
 SLC13A3
 
 krumm_13_ASD_discovery_cases-case11501.p1
 
 
 Maternal
 Simplex
 Segregated
 SPINT4
 
 krumm_13_ASD_discovery_cases-case12473.p1
 
 
 Maternal
 Simplex
 Segregated
 SLC13A3
 
 krumm_15_ASD_discovery_cases-case11193.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SPINT4
 
 krumm_15_ASD_discovery_cases-case11501.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 SPINT4
 
 krumm_15_ASD_discovery_cases-case11537.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 SPINT4
 
 krumm_15_ASD_discovery_cases-case12208.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SPINT4
 
 krumm_15_ASD_discovery_cases-case13009.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 SPINT4
 
 krumm_15_ASD_discovery_cases-case13082.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SPINT4
 
 krumm_15_ASD_discovery_cases-case13120.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SPINT4
 
 krumm_15_ASD_discovery_cases-case13303.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SPINT4
 
 krumm_15_ASD_discovery_cases-case13586.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 SPINT4
 
 marshall_08_ASD_discovery_cases-SK0258-004
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 RPL35AP,RNU6-497P,RNU6-563P,LINC01754,NCOA3
 
 prasad_12_ASD_discovery_cases-case47173L
 
 
 Unknown
 Unknown
 Unknown
 CD40
 
 sanders_11_ASD_discovery_cases-11193.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
 sanders_11_ASD_discovery_cases-11290.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MYBL2
 
 sanders_11_ASD_discovery_cases-11394.p1
 
 
 Maternal
 Simplex (trio)
 NA
 MYBL2
 
 sanders_11_ASD_discovery_cases-11501.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
 sanders_11_ASD_discovery_cases-11537.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 WFDC13,SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
 sanders_11_ASD_discovery_cases-11948.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 MYBL2
 
 sanders_11_ASD_discovery_cases-12033.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MYBL2
 
 sanders_11_ASD_discovery_cases-12041.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 WFDC6,EPPIN-WFDC6,HSPD1P21,EPPIN
 
 sanders_11_ASD_discovery_cases-12208.p1
 
 
 Maternal
 Simplex (trio)
 NA
 SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
 sanders_11_ASD_discovery_cases-12281.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MYBL2
 
 sanders_11_ASD_discovery_cases-12404.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12423.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 MYBL2
 
 sanders_11_ASD_discovery_cases-12454.p1
 
 
 Paternal
 Simplex (trio)
 NA
 MYBL2
 
 sanders_11_ASD_discovery_cases-12582.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MYBL2
 
 sanders_11_ASD_discovery_cases-12634.p1
 
 
 Unknown
 Simplex (trio)
 NA
 MYBL2
 
 sanders_11_ASD_discovery_cases-12944.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MYBL2
 
 sanders_11_ASD_discovery_cases-13015.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MYBL2
 
 sanders_11_ASD_discovery_cases-13082.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
 sanders_11_ASD_discovery_cases-13083.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 WFDC6,EPPIN-WFDC6,HSPD1P21,EPPIN
 
 sanders_11_ASD_discovery_cases-13120.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
 sanders_11_ASD_discovery_cases-13303.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 SPINT4,HNRNPA1P3,WFDC3
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_controls-controlSSC00272
  No validation step reported
 
  Maternal
 
 
  ZMYND8
 
engchuan_15_ASD_discovery_controls-controlB928410_0067942587
 
 
  Unknown
 
 
  RPL27AP,GTSF1L,SGK2,MYBL2,L3MBTL1,IFT52
 
engchuan_15_ASD_discovery_controls-controlB983089_1007842465
 
 
  Unknown
 
 
  WFDC13,SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
engchuan_15_ASD_discovery_controls-controlHABC_900036_900036
 
 
  Unknown
 
 
  SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
engchuan_15_ASD_discovery_controls-controlHABC_900056_900056
 
 
  Unknown
 
 
  SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
engchuan_15_ASD_discovery_controls-controlHABC_900324_900324
 
 
  Unknown
 
 
  SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
engchuan_15_ASD_discovery_controls-controlHABC_900359_900359
 
 
  Unknown
 
 
  SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
engchuan_15_ASD_discovery_controls-controlHABC_900496_900496
 
 
  Unknown
 
 
  SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
engchuan_15_ASD_discovery_controls-controlHABC_900624_900624
 
 
  Unknown
 
 
  RN7SKP33,EYA2
 
engchuan_15_ASD_discovery_controls-controlHABC_901030_901030
 
 
  Unknown
 
 
  YWHAB,PABPC1L,TOMM34
 
engchuan_15_ASD_discovery_controls-controlHABC_901057_901057
 
 
  Unknown
 
 
  SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
engchuan_15_ASD_discovery_controls-controlHABC_901166_901166
 
 
  Unknown
 
 
  SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
engchuan_15_ASD_discovery_controls-controlHABC_902554_902554
 
 
  Unknown
 
 
  SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
engchuan_15_ASD_discovery_controls-controlHABC_902566_902566
 
 
  Unknown
 
 
  SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
engchuan_15_ASD_discovery_controls-controlHABC_902597_902597
 
 
  Unknown
 
 
  SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
engchuan_15_ASD_discovery_controls-controlHABC_902664_902664
 
 
  Unknown
 
 
  RNU7-173P,SRMP1,RNA5SP486,SULF2
 
engchuan_15_ASD_discovery_controls-controlHABC_902844_902844
 
 
  Unknown
 
 
  SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
engchuan_15_ASD_discovery_controls-controlHABC_902882_902882
 
 
  Unknown
 
 
  SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
engchuan_15_ASD_discovery_controls-controlHABC_903002_903002
 
 
  Unknown
 
 
  SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
kanduri_15_ASD_discovery_controls-control_split1592
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, SPINT4(dist=1859),WFDC3(dist=24674)
 
kanduri_15_ASD_discovery_controls-control_split858
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, SPINT4(dist=1859),WFDC3(dist=24674)
 
krumm_13_ASD_discovery_controls-control13926.s1
 
 
  Maternal
  Simplex
 
  SPINT4
 
krumm_15_ASD_discovery_controls-control11236.s1
  Illumina 1MDuo
 
  Maternal
 
 
  CD40
 
krumm_15_ASD_discovery_controls-control11330.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SPINT4
 
krumm_15_ASD_discovery_controls-control13036.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SEMG1,SEMG2,SLPI,MATN4
 
krumm_15_ASD_discovery_controls-control13303.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SPINT4
 
krumm_15_ASD_discovery_controls-control13800.s1
  Omni2.5-4v1
 
  Maternal
 
 
  RBPJL
 
poultney_13_ASD_discovery_controls-control04C28818A
  qPCR
 
  Unknown
 
 
  WFDC13,SPINT4
 
poultney_13_ASD_discovery_controls-control05C43962
 
 
  Unknown
 
 
  SEMG1,SEMG2,SLPI,MATN4
 
sanders_11_ASD_discovery_controls-11023.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
sanders_11_ASD_discovery_controls-11117.s1
 
 
  Unknown
  Simplex (quad)
  NA
  MYBL2
 
sanders_11_ASD_discovery_controls-11193.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
sanders_11_ASD_discovery_controls-11290.s1
 
 
  Unknown
  Simplex (quad)
  NA
  MYBL2
 
sanders_11_ASD_discovery_controls-11330.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
sanders_11_ASD_discovery_controls-11568.s1
 
 
  Unknown
  Simplex (quad)
  NA
  EPPIN-WFDC6,HSPD1P21,EPPIN
 
sanders_11_ASD_discovery_controls-11941.s1
 
 
  Unknown
  Simplex (quad)
  NA
  MYBL2
 
sanders_11_ASD_discovery_controls-12033.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MYBL2
 
sanders_11_ASD_discovery_controls-12281.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GTSF1L,MYBL2
 
sanders_11_ASD_discovery_controls-12323.s1
 
 
  Unknown
  Simplex (quad)
  NA
  MYBL2
 
sanders_11_ASD_discovery_controls-12582.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MYBL2
 
sanders_11_ASD_discovery_controls-12597.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MYBL2
 
sanders_11_ASD_discovery_controls-12603.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 
sanders_11_ASD_discovery_controls-12944.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MYBL2
 
sanders_11_ASD_discovery_controls-13015.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MYBL2
 
sanders_11_ASD_discovery_controls-13036.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SEMG1,SEMG2,RBPJL,SLPI,MATN4
 
sanders_11_ASD_discovery_controls-13303.s1
 
 
  Both parents
  Simplex (quad)
  NA
  SPINT4,HNRNPA1P3,SPINT5P,WFDC3
 

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