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3q12.2CNV Type: Deletion-Duplication


Largest CNV size: 120051 bp

Statistics Box:
Number of Reports: 4


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
Excess of rare, inherited truncating mutations in autism.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 29851
 0
 1
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 110212
 0
 35
 35
 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
 120051
 1
 27
 28
 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
 97900
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 12734
 0
 1
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 90461
 0
 25
 25
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 117485
 1
 20
 21

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 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
 
 
 vaags_11_ASD_replication_cases_2
  NA
 aCGH
  Agilent 44K & 244K
 
 
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  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
  kanduri_15_ASD_discovery_cases-case3046
 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.
 
 100011853
 100041703
  29851
 Unknown
 Duplication
 No
  krumm_15_ASD_discovery_cases-case11132.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 100629597
 100720058
  90462
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11303.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 100629597
 100713869
  84273
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11367.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 100629597
 100713869
  84273
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11382.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 100629597
 100713869
  84273
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11437.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 100637301
 100713869
  76569
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11489.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 100629597
 100695001
  65405
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11615.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 100629597
 100720058
  90462
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11722.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 100629597
 100713869
  84273
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11782.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 100629597
 100713869
  84273
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11909.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 100629597
 100713869
  84273
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11959.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 100629597
 100713869
  84273
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12100.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 100646568
 100713869
  67302
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12180.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 100629597
 100720058
  90462
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12194.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 100609856
 100720068
  110213
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12354.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 100629597
 100713869
  84273
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12492.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 100629597
 100720058
  90462
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12786.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 100629597
 100695001
  65405
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12838.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 100629597
 100695001
  65405
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13073.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 100629597
 100695001
  65405
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13085.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 100629597
 100713869
  84273
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13089.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 100629597
 100713869
  84273
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13196.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 100635676
 100713869
  78194
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13306.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 100629597
 100720058
  90462
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13577.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 100629597
 100695001
  65405
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13611.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 100629597
 100713869
  84273
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13618.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 100629597
 100713869
  84273
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13636.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 100635676
 100695001
  59326
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13710.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 100629597
 100695001
  65405
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13741.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 100629597
 100720058
  90462
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14075.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 100629597
 100720058
  90462
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14115.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 100635676
 100695001
  59326
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14170.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 100629597
 100720058
  90462
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14408.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 100629597
 100720058
  90462
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14444.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 100629597
 100713869
  84273
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14474.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 100629597
 100713869
  84273
 GRCh38
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11038.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 82; verbal IQ, 67
 100616244
 100736295
  120052
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11132.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 49; verbal IQ, 32
 100616244
 100724888
  108645
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11303.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 110; verbal IQ, 102
 100616244
 100724888
  108645
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11367.p1
 7.6
 M
 Aspergers
 NA
 Full-scale IQ, 115; non-verbal IQ, 119; verbal IQ, 119
 100616244
 100724888
  108645
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11382.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 70; verbal IQ, 94
 100616244
 100724888
  108645
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11437.p1
 16.6
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 102; verbal IQ, 65
 100616244
 100724888
  108645
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11489.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 108; verbal IQ, 104
 100616244
 100736295
  120052
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11615.p1
 12.6
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 83; verbal IQ, 89
 100616244
 100724888
  108645
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11722.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 99; verbal IQ, 92
 100620744
 100724888
  104145
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11782.p1
 5.3
 F
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 59; verbal IQ, 64
 100616244
 100724888
  108645
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11909.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 93; verbal IQ, 115
 100616244
 100724888
  108645
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11922.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 90
 100626357
 100724888
  98532
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11959.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 79; verbal IQ, 49
 100620744
 100724888
  104145
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12053.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 90; verbal IQ, 71
 100616244
 100719048
  102805
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12060.p1
 8.5
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 115
 101052447
 101065354
  12908
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12100.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 64; verbal IQ, 87
 100616244
 100724888
  108645
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12180.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 92; verbal IQ, 86
 100616244
 100724888
  108645
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12194.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 97; verbal IQ, 78
 100616244
 100724888
  108645
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12284.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 70; non-verbal IQ, 77; verbal IQ, 61
 100620744
 100724888
  104145
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12354.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 81
 100616244
 100724888
  108645
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12409.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 106; verbal IQ, 109
 100616244
 100724888
  108645
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12492.p1
 15.4
 M
 Autism
 NA
 Full-scale IQ, 26; non-verbal IQ, 30; verbal IQ, 19
 100616244
 100724888
  108645
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12786.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 90; verbal IQ, 87
 100616244
 100724888
  108645
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12838.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 93; verbal IQ, 50
 100616244
 100724888
  108645
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13070.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ, 85
 100616244
 100724888
  108645
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13073.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 60; verbal IQ, 25
 100616244
 100724888
  108645
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13085.p1
 14.8
 M
 ASD
 NA
 Full-scale IQ, 82; non-verbal IQ, 78; verbal IQ, 95
 100616244
 100724888
  108645
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13089.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 88; verbal IQ, 48
 100616244
 100724888
  108645
 GRCh38
 Duplication
 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)
 100628722
 100726621
  97900
 GRCh38
 Duplication
 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
  kanduri_15_ASD_discovery_controls-control_split437
  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
 
  100354524
  100367257
  12734
  Unknown
  Duplication
  No
  krumm_15_ASD_discovery_controls-control11077.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  100635676
  100695001
  59326
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11208.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  100629597
  100720058
  90462
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11437.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  100629597
  100695001
  65405
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11489.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  100629597
  100713869
  84273
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11530.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  100637301
  100695001
  57701
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11615.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  100629597
  100720058
  90462
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11793.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  100629597
  100720058
  90462
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11959.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  100629597
  100713869
  84273
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12001.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  100635676
  100695001
  59326
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12301.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  100630704
  100713869
  83166
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12492.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  100629597
  100713869
  84273
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12633.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  100629597
  100720058
  90462
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12686.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  100630704
  100695001
  64298
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12837.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  100637301
  100695001
  57701
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12922.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  100629597
  100713869
  84273
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13016.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  100629597
  100713869
  84273
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13306.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  100629597
  100720058
  90462
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13398.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  100629597
  100720058
  90462
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13611.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  100629597
  100713869
  84273
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13618.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  100629597
  100713869
  84273
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13636.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  100637301
  100695001
  57701
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13688.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  100629597
  100713869
  84273
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13710.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  100629597
  100720058
  90462
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13750.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  100629597
  100695001
  65405
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14075.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  100629597
  100720058
  90462
  GRCh38
  Duplication
  Yes
  sanders_11_ASD_discovery_controls-11077.s1
  14.8
  M
  Control (matched sibling)
  NA
  NA
  100616244
  100724888
  108645
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11208.s1
  11.4
  F
  Control (matched sibling)
  NA
  NA
  100616244
  100724888
  108645
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11367.s1
  4.6
  F
  Control (matched sibling)
  NA
  NA
  100616244
  100733729
  117486
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11396.s1
  6.6
  M
  Control (matched sibling)
  NA
  NA
  100616244
  100724888
  108645
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11437.s1
  18.4
  M
  Control (matched sibling)
  NA
  NA
  100616244
  100724888
  108645
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11489.s1
  15.8
  M
  Control (matched sibling)
  NA
  NA
  100616244
  100724888
  108645
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11530.s1
  9.4
  F
  Control (matched sibling)
  NA
  NA
  100616244
  100724888
  108645
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11615.s1
  10.7
  F
  Control (matched sibling)
  NA
  NA
  100616244
  100724888
  108645
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11753.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  100616244
  100724888
  108645
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11793.s1
  11.1
  F
  Control (matched sibling)
  NA
  NA
  100616244
  100724888
  108645
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11922.s1
  13.4
  M
  Control (matched sibling)
  NA
  NA
  100620744
  100724888
  104145
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11959.s1
  9.7
  F
  Control (matched sibling)
  NA
  NA
  100616244
  100724888
  108645
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12001.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  100616244
  100724888
  108645
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12053.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  100620744
  100724888
  104145
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12060.s1
  10.6
  F
  Control (matched sibling)
  NA
  NA
  101052447
  101065354
  12908
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12284.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  100616244
  100724888
  108645
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12492.s1
  13.1
  M
  Control (matched sibling)
  NA
  NA
  100616244
  100724888
  108645
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12524.s1
  4.4
  F
  Control (matched sibling)
  NA
  NA
  100620744
  100724888
  104145
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12837.s1
  6.5
  F
  Control (matched sibling)
  NA
  NA
  100620744
  100724888
  104145
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13016.s1
  9.5
  F
  Control (matched sibling)
  NA
  NA
  100616244
  100724888
  108645
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13070.s1
  11.6
  M
  Control (matched sibling)
  NA
  NA
  100616244
  100724888
  108645
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 kanduri_15_ASD_discovery_cases-case3046
 
 
 Maternal
 Unknown
 Unknown
 TBC1D23
 
 krumm_15_ASD_discovery_cases-case11132.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 GMFBP1,TFG,ADGRG7
 
 krumm_15_ASD_discovery_cases-case11303.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 GMFBP1,TFG,ADGRG7
 
 krumm_15_ASD_discovery_cases-case11367.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 GMFBP1,TFG,ADGRG7
 
 krumm_15_ASD_discovery_cases-case11382.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 GMFBP1,TFG,ADGRG7
 
 krumm_15_ASD_discovery_cases-case11437.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GMFBP1,TFG,ADGRG7
 
 krumm_15_ASD_discovery_cases-case11489.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GMFBP1,ADGRG7
 
 krumm_15_ASD_discovery_cases-case11615.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GMFBP1,TFG,ADGRG7
 
 krumm_15_ASD_discovery_cases-case11722.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 GMFBP1,TFG,ADGRG7
 
 krumm_15_ASD_discovery_cases-case11782.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 GMFBP1,TFG,ADGRG7
 
 krumm_15_ASD_discovery_cases-case11909.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 GMFBP1,TFG,ADGRG7
 
 krumm_15_ASD_discovery_cases-case11959.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GMFBP1,TFG,ADGRG7
 
 krumm_15_ASD_discovery_cases-case12100.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 GMFBP1,TFG,ADGRG7
 
 krumm_15_ASD_discovery_cases-case12180.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 GMFBP1,TFG,ADGRG7
 
 krumm_15_ASD_discovery_cases-case12194.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 GMFBP1,TFG,ADGRG7
 
 krumm_15_ASD_discovery_cases-case12354.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 GMFBP1,TFG,ADGRG7
 
 krumm_15_ASD_discovery_cases-case12492.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GMFBP1,TFG,ADGRG7
 
 krumm_15_ASD_discovery_cases-case12786.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 GMFBP1,ADGRG7
 
 krumm_15_ASD_discovery_cases-case12838.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 GMFBP1,ADGRG7
 
 krumm_15_ASD_discovery_cases-case13073.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 GMFBP1,ADGRG7
 
 krumm_15_ASD_discovery_cases-case13085.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 GMFBP1,TFG,ADGRG7
 
 krumm_15_ASD_discovery_cases-case13089.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 GMFBP1,TFG,ADGRG7
 
 krumm_15_ASD_discovery_cases-case13196.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 GMFBP1,TFG,ADGRG7
 
 krumm_15_ASD_discovery_cases-case13306.p1
 1M-Duov3
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GMFBP1,TFG,ADGRG7
 
 krumm_15_ASD_discovery_cases-case13577.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 GMFBP1,ADGRG7
 
 krumm_15_ASD_discovery_cases-case13611.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GMFBP1,TFG,ADGRG7
 
 krumm_15_ASD_discovery_cases-case13618.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GMFBP1,TFG,ADGRG7
 
 krumm_15_ASD_discovery_cases-case13636.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GMFBP1,ADGRG7
 
 krumm_15_ASD_discovery_cases-case13710.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GMFBP1,ADGRG7
 
 krumm_15_ASD_discovery_cases-case13741.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 GMFBP1,TFG,ADGRG7
 
 krumm_15_ASD_discovery_cases-case14075.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GMFBP1,TFG,ADGRG7
 
 krumm_15_ASD_discovery_cases-case14115.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 GMFBP1,ADGRG7
 
 krumm_15_ASD_discovery_cases-case14170.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 GMFBP1,TFG,ADGRG7
 
 krumm_15_ASD_discovery_cases-case14408.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 GMFBP1,TFG,ADGRG7
 
 krumm_15_ASD_discovery_cases-case14444.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 GMFBP1,TFG,ADGRG7
 
 krumm_15_ASD_discovery_cases-case14474.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 GMFBP1,TFG,ADGRG7
 
 sanders_11_ASD_discovery_cases-11038.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 GMFBP1,TFG,ADGRG7
 
 sanders_11_ASD_discovery_cases-11132.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GMFBP1,TFG,ADGRG7
 
 sanders_11_ASD_discovery_cases-11303.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GMFBP1,TFG,ADGRG7
 
 sanders_11_ASD_discovery_cases-11367.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GMFBP1,TFG,ADGRG7
 
 sanders_11_ASD_discovery_cases-11382.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GMFBP1,TFG,ADGRG7
 
 sanders_11_ASD_discovery_cases-11437.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GMFBP1,TFG,ADGRG7
 
 sanders_11_ASD_discovery_cases-11489.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GMFBP1,TFG,ADGRG7
 
 sanders_11_ASD_discovery_cases-11615.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GMFBP1,TFG,ADGRG7
 
 sanders_11_ASD_discovery_cases-11722.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GMFBP1,TFG,ADGRG7
 
 sanders_11_ASD_discovery_cases-11782.p1
 
 
 Paternal
 Simplex (trio)
 NA
 GMFBP1,TFG,ADGRG7
 
 sanders_11_ASD_discovery_cases-11909.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GMFBP1,TFG,ADGRG7
 
 sanders_11_ASD_discovery_cases-11922.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GMFBP1,TFG,ADGRG7
 
 sanders_11_ASD_discovery_cases-11959.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GMFBP1,TFG,ADGRG7
 
 sanders_11_ASD_discovery_cases-12053.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GMFBP1,TFG,ADGRG7
 
 sanders_11_ASD_discovery_cases-12060.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12100.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GMFBP1,TFG,ADGRG7
 
 sanders_11_ASD_discovery_cases-12180.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GMFBP1,TFG,ADGRG7
 
 sanders_11_ASD_discovery_cases-12194.p1
 
 
 Paternal
 Simplex (trio)
 NA
 GMFBP1,TFG,ADGRG7
 
 sanders_11_ASD_discovery_cases-12284.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GMFBP1,TFG,ADGRG7
 
 sanders_11_ASD_discovery_cases-12354.p1
 
 
 Maternal
 Simplex (trio)
 NA
 GMFBP1,TFG,ADGRG7
 
 sanders_11_ASD_discovery_cases-12409.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GMFBP1,TFG,ADGRG7
 
 sanders_11_ASD_discovery_cases-12492.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GMFBP1,TFG,ADGRG7
 
 sanders_11_ASD_discovery_cases-12786.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GMFBP1,TFG,ADGRG7
 
 sanders_11_ASD_discovery_cases-12838.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GMFBP1,TFG,ADGRG7
 
 sanders_11_ASD_discovery_cases-13070.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 GMFBP1,TFG,ADGRG7
 
 sanders_11_ASD_discovery_cases-13073.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GMFBP1,TFG,ADGRG7
 
 sanders_11_ASD_discovery_cases-13085.p1
 
 
 Paternal
 Simplex (trio)
 NA
 GMFBP1,TFG,ADGRG7
 
 sanders_11_ASD_discovery_cases-13089.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GMFBP1,TFG,ADGRG7
 
 vaags_11_ASD_replication_cases_2-probandF4-003
 
 
 Unknown
 Simplex
 Unknown
 GMFBP1,TFG,ADGRG7
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kanduri_15_ASD_discovery_controls-control_split437
 
 
  Unknown
 
 
  GPR128
 
krumm_15_ASD_discovery_controls-control11077.s1
  Illumina 1M
 
  Maternal
 
 
  GMFBP1,ADGRG7
 
krumm_15_ASD_discovery_controls-control11208.s1
  Illumina 1M
 
  Maternal
 
 
  GMFBP1,TFG,ADGRG7
 
krumm_15_ASD_discovery_controls-control11437.s1
  Illumina 1M
 
  Paternal
 
 
  GMFBP1,ADGRG7
 
krumm_15_ASD_discovery_controls-control11489.s1
  Illumina 1M
 
  Paternal
 
 
  GMFBP1,TFG,ADGRG7
 
krumm_15_ASD_discovery_controls-control11530.s1
  Illumina 1M
 
  Maternal
 
 
  GMFBP1,ADGRG7
 
krumm_15_ASD_discovery_controls-control11615.s1
  Illumina 1MDuo
 
  Maternal
 
 
  GMFBP1,TFG,ADGRG7
 
krumm_15_ASD_discovery_controls-control11793.s1
  Illumina 1MDuo
 
  Maternal
 
 
  GMFBP1,TFG,ADGRG7
 
krumm_15_ASD_discovery_controls-control11959.s1
  Illumina 1MDuo
 
  Paternal
 
 
  GMFBP1,TFG,ADGRG7
 
krumm_15_ASD_discovery_controls-control12001.s1
  Illumina 1MDuo
 
  Maternal
 
 
  GMFBP1,ADGRG7
 
krumm_15_ASD_discovery_controls-control12301.s1
  Illumina 1MDuo
 
  Maternal
 
 
  GMFBP1,TFG,ADGRG7
 
krumm_15_ASD_discovery_controls-control12492.s1
  Illumina 1MDuo
 
  Maternal
 
 
  GMFBP1,TFG,ADGRG7
 
krumm_15_ASD_discovery_controls-control12633.s1
  1M-Duov3
 
  Paternal
 
 
  GMFBP1,TFG,ADGRG7
 
krumm_15_ASD_discovery_controls-control12686.s1
  1M-Duov3
 
  Maternal
 
 
  GMFBP1,ADGRG7
 
krumm_15_ASD_discovery_controls-control12837.s1
  Illumina 1MDuo
 
  Paternal
 
 
  GMFBP1,ADGRG7
 
krumm_15_ASD_discovery_controls-control12922.s1
  1M-Duov3
 
  Paternal
 
 
  GMFBP1,TFG,ADGRG7
 
krumm_15_ASD_discovery_controls-control13016.s1
  Illumina 1MDuo
 
  Maternal
 
 
  GMFBP1,TFG,ADGRG7
 
krumm_15_ASD_discovery_controls-control13306.s1
  1M-Duov3
 
  Paternal
 
 
  GMFBP1,TFG,ADGRG7
 
krumm_15_ASD_discovery_controls-control13398.s1
  1M-Duov3
 
  Maternal
 
 
  GMFBP1,TFG,ADGRG7
 
krumm_15_ASD_discovery_controls-control13611.s1
  Omni2.5-4v1
 
  Maternal
 
 
  GMFBP1,TFG,ADGRG7
 
krumm_15_ASD_discovery_controls-control13618.s1
  Omni2.5-4v1
 
  Paternal
 
 
  GMFBP1,TFG,ADGRG7
 
krumm_15_ASD_discovery_controls-control13636.s1
  Omni2.5-4v1
 
  Paternal
 
 
  GMFBP1,ADGRG7
 
krumm_15_ASD_discovery_controls-control13688.s1
  Omni2.5-4v1
 
  Paternal
 
 
  GMFBP1,TFG,ADGRG7
 
krumm_15_ASD_discovery_controls-control13710.s1
  Omni2.5-4v1
 
  Paternal
 
 
  GMFBP1,TFG,ADGRG7
 
krumm_15_ASD_discovery_controls-control13750.s1
  Omni2.5-4v1
 
  Maternal
 
 
  GMFBP1,ADGRG7
 
krumm_15_ASD_discovery_controls-control14075.s1
  Omni2.5-4v1
 
  Paternal
 
 
  GMFBP1,TFG,ADGRG7
 
sanders_11_ASD_discovery_controls-11077.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GMFBP1,TFG,ADGRG7
 
sanders_11_ASD_discovery_controls-11208.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GMFBP1,TFG,ADGRG7
 
sanders_11_ASD_discovery_controls-11367.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GMFBP1,TFG,ADGRG7
 
sanders_11_ASD_discovery_controls-11396.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GMFBP1,TFG,ADGRG7
 
sanders_11_ASD_discovery_controls-11437.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GMFBP1,TFG,ADGRG7
 
sanders_11_ASD_discovery_controls-11489.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GMFBP1,TFG,ADGRG7
 
sanders_11_ASD_discovery_controls-11530.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GMFBP1,TFG,ADGRG7
 
sanders_11_ASD_discovery_controls-11615.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GMFBP1,TFG,ADGRG7
 
sanders_11_ASD_discovery_controls-11753.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GMFBP1,TFG,ADGRG7
 
sanders_11_ASD_discovery_controls-11793.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GMFBP1,TFG,ADGRG7
 
sanders_11_ASD_discovery_controls-11922.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GMFBP1,TFG,ADGRG7
 
sanders_11_ASD_discovery_controls-11959.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GMFBP1,TFG,ADGRG7
 
sanders_11_ASD_discovery_controls-12001.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GMFBP1,TFG,ADGRG7
 
sanders_11_ASD_discovery_controls-12053.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GMFBP1,TFG,ADGRG7
 
sanders_11_ASD_discovery_controls-12060.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12284.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GMFBP1,TFG,ADGRG7
 
sanders_11_ASD_discovery_controls-12492.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GMFBP1,TFG,ADGRG7
 
sanders_11_ASD_discovery_controls-12524.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GMFBP1,TFG,ADGRG7
 
sanders_11_ASD_discovery_controls-12837.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GMFBP1,TFG,ADGRG7
 
sanders_11_ASD_discovery_controls-13016.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GMFBP1,TFG,ADGRG7
 
sanders_11_ASD_discovery_controls-13070.s1
 
 
  Both parents
  Simplex (quad)
  NA
  GMFBP1,TFG,ADGRG7
 

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