2-234160453-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234160453
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234160453
    reference: chr 2
allele count: 1
allele frequency: 6.574621959237344e-5
allele num: 15210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.-21G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.123G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.-21G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.107G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.-21G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.-21G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.-21G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.-21G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.-21G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.-21G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-137-4295G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.-21G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.126G>A
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20622
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

2-234160458-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234160458
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234160458
    reference: chr 2
allele count: 5
allele frequency: 3.26797385620915e-4
allele num: 15300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.-16C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.131C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.128C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.-16C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.-16C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.-16C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.112C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-137-4290C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.-16C>T
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21583
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ

2-234160471-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234160471
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234160471
    reference: chr 2
allele count: 1
allele frequency: 6.463288521199587e-5
allele num: 15472
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.-3G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.-3G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-137-4277G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.141G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.-3G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.-3G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.-3G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.144G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.125G>A
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

2-234160475-TGTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234160475
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234160472
    reference: chr 2
allele count: 8
allele frequency: 5.160624435556702e-4
allele num: 15502
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.7_9delTCG
  hgvsp: ENSP00000375872.4:p.Ser3del
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.7_9delTCG
  hgvsp: ENSP00000375875.4:p.Ser3del
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-137-4268_-137-4266delTCG
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.7_9delTCG
  hgvsp: ENSP00000318259.6:p.Ser3del
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.153_155delTCG
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.7_9delTCG
  hgvsp: ENSP00000362625.5:p.Ser3del
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.7_9delTCG
  hgvsp: ENSP00000398773.1:p.Ser3del
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.7_9delTCG
  hgvsp: ENSP00000375873.1:p.Ser3del
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.7_9delTCG
  hgvsp: ENSP00000412046.1:p.Ser3del
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.7_9delTCG
  hgvsp: ENSP00000375876.3:p.Ser3del
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.150_152delTCG
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.7_9delTCG
  hgvsp: ENSP00000409215.1:p.Ser3del
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.134_136delTCG
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26171
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser3del
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: TGTC
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

2-234160480-TCGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234160480
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234160477
    reference: chr 2
allele count: 1
allele frequency: 6.44080896560608e-5
allele num: 15526
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.8_10delCGG
  hgvsp: ENSP00000362625.5:p.Ser3_Gly4delinsCys
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.8_10delCGG
  hgvsp: ENSP00000409215.1:p.Ser3_Gly4delinsCys
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.8_10delCGG
  hgvsp: ENSP00000375873.1:p.Ser3_Gly4delinsCys
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.8_10delCGG
  hgvsp: ENSP00000318259.6:p.Ser3_Gly4delinsCys
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.8_10delCGG
  hgvsp: ENSP00000412046.1:p.Ser3_Gly4delinsCys
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.8_10delCGG
  hgvsp: ENSP00000375876.3:p.Ser3_Gly4delinsCys
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.8_10delCGG
  hgvsp: ENSP00000398773.1:p.Ser3_Gly4delinsCys
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.8_10delCGG
  hgvsp: ENSP00000375875.4:p.Ser3_Gly4delinsCys
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.154_156delCGG
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.8_10delCGG
  hgvsp: ENSP00000375872.4:p.Ser3_Gly4delinsCys
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-137-4267_-137-4265delCGG
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.135_137delCGG
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.151_153delCGG
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser3_Gly4delinsCys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: TCGG
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

2-234160481-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234160481
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234160481
    reference: chr 2
allele count: 1
allele frequency: 6.438320885912955e-5
allele num: 15532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.154C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-137-4267C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.8C>T
  hgvsp: ENSP00000375872.4:p.Ser3Leu
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.151C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.8C>T
  hgvsp: ENSP00000375875.4:p.Ser3Leu
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.8C>T
  hgvsp: ENSP00000375876.3:p.Ser3Leu
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.8C>T
  hgvsp: ENSP00000409215.1:p.Ser3Leu
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.8C>T
  hgvsp: ENSP00000318259.6:p.Ser3Leu
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.8C>T
  hgvsp: ENSP00000412046.1:p.Ser3Leu
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.8C>T
  hgvsp: ENSP00000362625.5:p.Ser3Leu
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.135C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.8C>T
  hgvsp: ENSP00000375873.1:p.Ser3Leu
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.8C>T
  hgvsp: ENSP00000398773.1:p.Ser3Leu
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser3Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

2-234160485-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234160485
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234160485
    reference: chr 2
allele count: 1
allele frequency: 6.416014371872192e-5
allele num: 15586
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.12C>T
  hgvsp: ENST00000373525.5:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.12C>T
  hgvsp: ENST00000419681.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.12C>T
  hgvsp: ENST00000444735.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.12C>T
  hgvsp: ENST00000392021.3:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.12C>T
  hgvsp: ENST00000392017.4:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.158C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.12C>T
  hgvsp: ENST00000347464.5:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.155C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.12C>T
  hgvsp: ENST00000417017.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.12C>T
  hgvsp: ENST00000392018.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.12C>T
  hgvsp: ENST00000392020.4:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-137-4263C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.139C>T
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28458
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly4Gly
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

2-234160486-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234160486
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234160486
    reference: chr 2
allele count: 1
allele frequency: 6.418485237483954e-5
allele num: 15580
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.13C>T
  hgvsp: ENSP00000375872.4:p.Leu5Phe
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.13C>T
  hgvsp: ENSP00000409215.1:p.Leu5Phe
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.13C>T
  hgvsp: ENSP00000375875.4:p.Leu5Phe
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.13C>T
  hgvsp: ENSP00000318259.6:p.Leu5Phe
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.13C>T
  hgvsp: ENSP00000375873.1:p.Leu5Phe
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.13C>T
  hgvsp: ENSP00000412046.1:p.Leu5Phe
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.159C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.13C>T
  hgvsp: ENSP00000398773.1:p.Leu5Phe
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.13C>T
  hgvsp: ENSP00000362625.5:p.Leu5Phe
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-137-4262C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.140C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.156C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.13C>T
  hgvsp: ENSP00000375876.3:p.Leu5Phe
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28731
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu5Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

2-234160527-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234160527
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234160527
    reference: chr 2
allele count: 1
allele frequency: 6.34437254155564e-5
allele num: 15762
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.54G>A
  hgvsp: ENST00000392017.4:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.54G>A
  hgvsp: ENST00000347464.5:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.54G>A
  hgvsp: ENST00000373525.5:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.54G>A
  hgvsp: ENST00000392020.4:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.54G>A
  hgvsp: ENST00000392021.3:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.200G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.54G>A
  hgvsp: ENST00000392018.1:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-137-4221G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.54G>A
  hgvsp: ENST00000417017.1:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.197G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.54G>A
  hgvsp: ENST00000419681.1:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.54G>A
  hgvsp: ENST00000444735.1:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.181G>A
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6516
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser18Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-234160533-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234160533
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234160533
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 15784
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.203A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.60A>G
  hgvsp: ENST00000392021.3:c.60A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.60A>G
  hgvsp: ENST00000347464.5:c.60A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-137-4215A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.60A>G
  hgvsp: ENST00000392018.1:c.60A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.60A>G
  hgvsp: ENST00000419681.1:c.60A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.187A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.60A>G
  hgvsp: ENST00000373525.5:c.60A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.60A>G
  hgvsp: ENST00000392020.4:c.60A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.60A>G
  hgvsp: ENST00000392017.4:c.60A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.60A>G
  hgvsp: ENST00000417017.1:c.60A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.60A>G
  hgvsp: ENST00000444735.1:c.60A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.206A>G
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln20Gln
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-234160541-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234160541
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234160541
    reference: chr 2
allele count: 2
allele frequency: 1.27177921912756e-4
allele num: 15726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.195G>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.211G>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.68G>T
  hgvsp: ENSP00000375875.4:p.Arg23Leu
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.68G>T
  hgvsp: ENSP00000398773.1:p.Arg23Leu
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.68G>T
  hgvsp: ENSP00000375872.4:p.Arg23Leu
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.68G>T
  hgvsp: ENSP00000318259.6:p.Arg23Leu
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.68G>T
  hgvsp: ENSP00000409215.1:p.Arg23Leu
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.68G>T
  hgvsp: ENSP00000412046.1:p.Arg23Leu
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.68G>T
  hgvsp: ENSP00000375873.1:p.Arg23Leu
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.68G>T
  hgvsp: ENSP00000375876.3:p.Arg23Leu
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.68G>T
  hgvsp: ENSP00000362625.5:p.Arg23Leu
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.214G>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-137-4207G>T
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6431
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg23Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

2-234160550-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234160550
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234160550
    reference: chr 2
allele count: 1
allele frequency: 6.350012700025399e-5
allele num: 15748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.204G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.77G>A
  hgvsp: ENSP00000375875.4:p.Arg26Gln
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.77G>A
  hgvsp: ENSP00000362625.5:p.Arg26Gln
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.77G>A
  hgvsp: ENSP00000398773.1:p.Arg26Gln
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.77G>A
  hgvsp: ENSP00000375872.4:p.Arg26Gln
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.77G>A
  hgvsp: ENSP00000375873.1:p.Arg26Gln
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.77G>A
  hgvsp: ENSP00000318259.6:p.Arg26Gln
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.220G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.77G>A
  hgvsp: ENSP00000412046.1:p.Arg26Gln
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.77G>A
  hgvsp: ENSP00000409215.1:p.Arg26Gln
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-137-4198G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.223G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.77G>A
  hgvsp: ENSP00000375876.3:p.Arg26Gln
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34087
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg26Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

2-234160565-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234160565
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234160565
    reference: chr 2
allele count: 1
allele frequency: 6.510416666666667e-5
allele num: 15360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.92C>G
  hgvsp: ENSP00000362625.5:p.Ala31Gly
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.92C>G
  hgvsp: ENSP00000375872.4:p.Ala31Gly
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.92C>G
  hgvsp: ENSP00000375875.4:p.Ala31Gly
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.92C>G
  hgvsp: ENSP00000375876.3:p.Ala31Gly
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.92C>G
  hgvsp: ENSP00000409215.1:p.Ala31Gly
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.92C>G
  hgvsp: ENSP00000318259.6:p.Ala31Gly
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.92C>G
  hgvsp: ENSP00000398773.1:p.Ala31Gly
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.92C>G
  hgvsp: ENSP00000375873.1:p.Ala31Gly
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.219C>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-137-4183C>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.235C>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.238C>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.92C>G
  hgvsp: ENSP00000412046.1:p.Ala31Gly
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33071
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala31Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

2-234160572-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234160572
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234160572
    reference: chr 2
allele count: 1
allele frequency: 6.594566077552098e-5
allele num: 15164
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.99G>A
  hgvsp: ENST00000392018.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.245G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.99G>A
  hgvsp: ENST00000392017.4:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.99G>A
  hgvsp: ENST00000347464.5:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.99G>A
  hgvsp: ENST00000392021.3:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.99G>A
  hgvsp: ENST00000444735.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.99G>A
  hgvsp: ENST00000392020.4:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.99G>A
  hgvsp: ENST00000419681.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.99G>A
  hgvsp: ENST00000417017.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.226G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.242G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-137-4176G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.99G>A
  hgvsp: ENST00000373525.5:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32318
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu33Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP

2-234160582-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234160582
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234160582
    reference: chr 2
allele count: 1
allele frequency: 6.819421713038734e-5
allele num: 14664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.109C>T
  hgvsp: ENST00000419681.1:c.109C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.255C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.109C>T
  hgvsp: ENST00000392017.4:c.109C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.109C>T
  hgvsp: ENST00000392018.1:c.109C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.109C>T
  hgvsp: ENST00000347464.5:c.109C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.109C>T
  hgvsp: ENST00000392021.3:c.109C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.252C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-137-4166C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.109C>T
  hgvsp: ENST00000417017.1:c.109C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.109C>T
  hgvsp: ENST00000373525.5:c.109C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.109C>T
  hgvsp: ENST00000444735.1:c.109C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.236C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.109C>T
  hgvsp: ENST00000392020.4:c.109C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29995
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu37Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

2-234160613-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234160613
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234160613
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 11308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.115+25G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-137-4135G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.115+25G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.115+25G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.242+25G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.258+25G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.261+25G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.115+25G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.115+25G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.115+25G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.113+27G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.115+25G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.115+25G>A
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21620
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

2-234160621-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234160621
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234160621
    reference: chr 2
allele count: 1
allele frequency: 9.682416731216112e-5
allele num: 10328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.115+33C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.115+33C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.115+33C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.113+35C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-137-4127C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.115+33C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.115+33C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.261+33C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.242+33C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.115+33C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.115+33C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.258+33C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.115+33C>T
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

2-234160625-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234160625
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234160625
    reference: chr 2
allele count: 1
allele frequency: 1.047339757017176e-4
allele num: 9548
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.115+37C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.115+37C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.261+37C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.258+37C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.242+37C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.115+37C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.115+37C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.113+39C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.115+37C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.115+37C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-137-4123C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.115+37C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.115+37C>T
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19892
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

2-234160638-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234160638
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234160638
    reference: chr 2
allele count: 1
allele frequency: 1.295001295001295e-4
allele num: 7722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.115+50G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.113+52G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.261+50G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.242+50G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.115+50G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.115+50G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.115+50G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.258+50G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.115+50G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-137-4110G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.115+50G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.115+50G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.115+50G>A
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19555
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

2-234164698-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234164698
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234164698
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 108420
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.116-50T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.259-50T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.116-50T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.116-50T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.116-50T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.114-50T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.243-50T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-137-50T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.116-50T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.262-50T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.116-50T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.116-50T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.116-50T>C
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 10710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

2-234164701-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234164701
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234164701
    reference: chr 2
allele count: 1
allele frequency: 9.202849202112974e-6
allele num: 108662
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.116-47A>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.259-47A>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.116-47A>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.116-47A>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-137-47A>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.116-47A>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.116-47A>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.116-47A>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.114-47A>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.116-47A>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.243-47A>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.262-47A>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.116-47A>T
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13211
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

2-234164704-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234164704
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234164704
    reference: chr 2
allele count: 4
allele frequency: 3.6892881518511e-5
allele num: 108422
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.116-44C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-137-44C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.116-44C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.116-44C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.243-44C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.114-44C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.116-44C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.116-44C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.116-44C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.259-44C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.116-44C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.262-44C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.116-44C>T
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11064
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

2-234164705-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234164705
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234164705
    reference: chr 2
allele count: 2
allele frequency: 1.84060371801951e-5
allele num: 108660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.116-43G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.116-43G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.114-43G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.116-43G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.116-43G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.259-43G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.116-43G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.116-43G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.116-43G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.116-43G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.262-43G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-137-43G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.243-43G>A
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9825
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

2-234164728-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234164728
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234164728
    reference: chr 2
allele count: 2
allele frequency: 1.761400665809452e-5
allele num: 113546
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.116-20T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-137-20T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.114-20T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.116-20T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.116-20T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.243-20T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.116-20T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.259-20T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.116-20T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.116-20T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.262-20T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.116-20T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.116-20T>C
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/2-234164731-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234164731
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234164731
    reference: chr 2
allele count: 1
allele frequency: 8.723567590201689e-6
allele num: 114632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.116-17C>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.116-17C>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-137-17C>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.116-17C>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.116-17C>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.116-17C>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.243-17C>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.259-17C>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.262-17C>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.116-17C>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.116-17C>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.116-17C>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.114-17C>A
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-234164758-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234164758
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234164758
    reference: chr 2
allele count: 4
allele frequency: 3.329726130025805e-5
allele num: 120130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.126G>T
  hgvsp: ENSP00000398773.1:p.Leu42Phe
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.126G>T
  hgvsp: ENSP00000362625.5:p.Leu42Phe
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*7G>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.126G>T
  hgvsp: ENSP00000412046.1:p.Leu42Phe
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.126G>T
  hgvsp: ENSP00000409215.1:p.Leu42Phe
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.126G>T
  hgvsp: ENSP00000375875.4:p.Leu42Phe
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.269G>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.126G>T
  hgvsp: ENSP00000318259.6:p.Leu42Phe
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.126G>T
  hgvsp: ENSP00000375872.4:p.Leu42Phe
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.126G>T
  hgvsp: ENSP00000375873.1:p.Leu42Phe
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.253G>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-127G>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.272G>T
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11043
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu42Phe
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ

2-234164763-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234164763
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234164763
    reference: chr 2
allele count: 1
allele frequency: 8.311170212765958e-6
allele num: 120320
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.131A>G
  hgvsp: ENSP00000362625.5:p.Glu44Gly
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*12A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.131A>G
  hgvsp: ENSP00000375872.4:p.Glu44Gly
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.131A>G
  hgvsp: ENSP00000412046.1:p.Glu44Gly
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.131A>G
  hgvsp: ENSP00000398773.1:p.Glu44Gly
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-122A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.131A>G
  hgvsp: ENSP00000409215.1:p.Glu44Gly
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.131A>G
  hgvsp: ENSP00000375875.4:p.Glu44Gly
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.131A>G
  hgvsp: ENSP00000318259.6:p.Glu44Gly
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.131A>G
  hgvsp: ENSP00000375873.1:p.Glu44Gly
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.277A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.274A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.258A>G
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40005
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu44Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

2-234164770-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234164770
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234164770
    reference: chr 2
allele count: 1
allele frequency: 8.302337938363443e-6
allele num: 120448
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.138A>G
  hgvsp: ENST00000392018.1:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*19A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.138A>G
  hgvsp: ENST00000347464.5:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.281A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.138A>G
  hgvsp: ENST00000419681.1:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.138A>G
  hgvsp: ENST00000417017.1:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.284A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.138A>G
  hgvsp: ENST00000392020.4:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.138A>G
  hgvsp: ENST00000444735.1:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.265A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.138A>G
  hgvsp: ENST00000373525.5:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.138A>G
  hgvsp: ENST00000392017.4:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-115A>G
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser46Ser
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-234164771-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234164771
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234164771
    reference: chr 2
allele count: 1
allele frequency: 8.302337938363443e-6
allele num: 120448
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.139G>C
  hgvsp: ENSP00000375875.4:p.Asp47His
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.139G>C
  hgvsp: ENSP00000398773.1:p.Asp47His
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.266G>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.139G>C
  hgvsp: ENSP00000318259.6:p.Asp47His
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.139G>C
  hgvsp: ENSP00000375873.1:p.Asp47His
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.285G>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.139G>C
  hgvsp: ENSP00000412046.1:p.Asp47His
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*20G>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.282G>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.139G>C
  hgvsp: ENSP00000375872.4:p.Asp47His
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.139G>C
  hgvsp: ENSP00000362625.5:p.Asp47His
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.139G>C
  hgvsp: ENSP00000409215.1:p.Asp47His
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-114G>C
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp47His
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

2-234164782-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234164782
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234164782
    reference: chr 2
allele count: 8
allele frequency: 6.636140420731303e-5
allele num: 120552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.293A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.150A>G
  hgvsp: ENST00000392018.1:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.150A>G
  hgvsp: ENST00000373525.5:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.150A>G
  hgvsp: ENST00000417017.1:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.150A>G
  hgvsp: ENST00000392020.4:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.150A>G
  hgvsp: ENST00000444735.1:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.150A>G
  hgvsp: ENST00000392017.4:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*31A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.150A>G
  hgvsp: ENST00000347464.5:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.277A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.150A>G
  hgvsp: ENST00000419681.1:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.296A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-103A>G
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser50Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

2-234164788-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234164788
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234164788
    reference: chr 2
allele count: 2
allele frequency: 1.658842459731599e-5
allele num: 120566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.299G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.156G>A
  hgvsp: ENST00000373525.5:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.156G>A
  hgvsp: ENST00000392017.4:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-97G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*37G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.156G>A
  hgvsp: ENST00000392020.4:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.156G>A
  hgvsp: ENST00000444735.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.156G>A
  hgvsp: ENST00000417017.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.156G>A
  hgvsp: ENST00000419681.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.156G>A
  hgvsp: ENST00000347464.5:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.156G>A
  hgvsp: ENST00000392018.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.302G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.283G>A
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu52Leu
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-234164789-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234164789
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234164789
    reference: chr 2
allele count: 5
allele frequency: 4.147106149328998e-5
allele num: 120566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-96G>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.157G>T
  hgvsp: ENSP00000409215.1:p.Ala53Ser
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.303G>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.157G>T
  hgvsp: ENSP00000375873.1:p.Ala53Ser
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.157G>T
  hgvsp: ENSP00000318259.6:p.Ala53Ser
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.157G>T
  hgvsp: ENSP00000362625.5:p.Ala53Ser
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.284G>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.157G>T
  hgvsp: ENSP00000375875.4:p.Ala53Ser
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*38G>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.157G>T
  hgvsp: ENSP00000412046.1:p.Ala53Ser
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.157G>T
  hgvsp: ENSP00000375872.4:p.Ala53Ser
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.300G>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.157G>T
  hgvsp: ENSP00000398773.1:p.Ala53Ser
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39967
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala53Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

2-234164797-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234164797
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234164797
    reference: chr 2
allele count: 1
allele frequency: 8.29531314807134e-6
allele num: 120550
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.165A>G
  hgvsp: ENST00000419681.1:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-88A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.311A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*46A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.165A>G
  hgvsp: ENST00000417017.1:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.292A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.308A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.165A>G
  hgvsp: ENST00000392017.4:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.165A>G
  hgvsp: ENST00000347464.5:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.165A>G
  hgvsp: ENST00000392020.4:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.165A>G
  hgvsp: ENST00000373525.5:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.165A>G
  hgvsp: ENST00000392018.1:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.165A>G
  hgvsp: ENST00000444735.1:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys55Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

2-234164808-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234164808
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234164808
    reference: chr 2
allele count: 5
allele frequency: 4.150410890678177e-5
allele num: 120470
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.176A>G
  hgvsp: ENSP00000409215.1:p.Glu59Gly
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.176A>G
  hgvsp: ENSP00000412046.1:p.Glu59Gly
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.319A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*57A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.176A>G
  hgvsp: ENSP00000362625.5:p.Glu59Gly
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.176A>G
  hgvsp: ENSP00000398773.1:p.Glu59Gly
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.322A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-77A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.176A>G
  hgvsp: ENSP00000318259.6:p.Glu59Gly
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.176A>G
  hgvsp: ENSP00000375872.4:p.Glu59Gly
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.176A>G
  hgvsp: ENSP00000375875.4:p.Glu59Gly
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.303A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.176A>G
  hgvsp: ENSP00000375873.1:p.Glu59Gly
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Glu59Gly
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

2-234164812-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234164812
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234164812
    reference: chr 2
allele count: 1
allele frequency: 8.305371914554334e-6
allele num: 120404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.180G>A
  hgvsp: ENST00000392020.4:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.180G>A
  hgvsp: ENST00000392018.1:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.180G>A
  hgvsp: ENST00000419681.1:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.180G>A
  hgvsp: ENST00000417017.1:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.180G>A
  hgvsp: ENST00000347464.5:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.326G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.180G>A
  hgvsp: ENST00000373525.5:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*61G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.307G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.180G>A
  hgvsp: ENST00000392017.4:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-73G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.180G>A
  hgvsp: ENST00000444735.1:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.323G>A
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys60Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

2-234164812-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234164812
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234164812
    reference: chr 2
allele count: 2
allele frequency: 1.661074382910867e-5
allele num: 120404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.326G>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*61G>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.180G>C
  hgvsp: ENSP00000412046.1:p.Lys60Asn
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.180G>C
  hgvsp: ENSP00000398773.1:p.Lys60Asn
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.180G>C
  hgvsp: ENSP00000375872.4:p.Lys60Asn
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.180G>C
  hgvsp: ENSP00000375873.1:p.Lys60Asn
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.180G>C
  hgvsp: ENSP00000318259.6:p.Lys60Asn
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.180G>C
  hgvsp: ENSP00000375875.4:p.Lys60Asn
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.180G>C
  hgvsp: ENSP00000409215.1:p.Lys60Asn
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.307G>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-73G>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.180G>C
  hgvsp: ENSP00000362625.5:p.Lys60Asn
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.323G>C
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys60Asn
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

2-234164814-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234164814
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234164814
    reference: chr 2
allele count: 2
allele frequency: 1.661681621801263e-5
allele num: 120360
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.182A>G
  hgvsp: ENSP00000375872.4:p.His61Arg
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.182A>G
  hgvsp: ENSP00000412046.1:p.His61Arg
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.182A>G
  hgvsp: ENSP00000318259.6:p.His61Arg
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.309A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.182A>G
  hgvsp: ENSP00000398773.1:p.His61Arg
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.182A>G
  hgvsp: ENSP00000409215.1:p.His61Arg
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.182A>G
  hgvsp: ENSP00000375873.1:p.His61Arg
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.182A>G
  hgvsp: ENSP00000362625.5:p.His61Arg
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.182A>G
  hgvsp: ENSP00000375875.4:p.His61Arg
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.325A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*63A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-71A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.328A>G
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.His61Arg
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

2-234164815-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234164815
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234164815
    reference: chr 2
allele count: 3
allele frequency: 2.492439599880363e-5
allele num: 120364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.329T>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.183T>A
  hgvsp: ENSP00000412046.1:p.His61Gln
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.183T>A
  hgvsp: ENSP00000398773.1:p.His61Gln
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.183T>A
  hgvsp: ENSP00000375872.4:p.His61Gln
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.183T>A
  hgvsp: ENSP00000318259.6:p.His61Gln
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.183T>A
  hgvsp: ENSP00000375875.4:p.His61Gln
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-70T>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.183T>A
  hgvsp: ENSP00000409215.1:p.His61Gln
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.183T>A
  hgvsp: ENSP00000375873.1:p.His61Gln
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.183T>A
  hgvsp: ENSP00000362625.5:p.His61Gln
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*64T>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.310T>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.326T>A
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His61Gln
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

2-234164818-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234164818
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234164818
    reference: chr 2
allele count: 3
allele frequency: 2.494346148729547e-5
allele num: 120272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.186C>T
  hgvsp: ENST00000347464.5:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.329C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.186C>T
  hgvsp: ENST00000444735.1:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.186C>T
  hgvsp: ENST00000392017.4:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.313C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.186C>T
  hgvsp: ENST00000419681.1:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.186C>T
  hgvsp: ENST00000373525.5:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.186C>T
  hgvsp: ENST00000392018.1:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.186C>T
  hgvsp: ENST00000417017.1:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.332C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*67C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-67C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.186C>T
  hgvsp: ENST00000392020.4:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp62Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

2-234164819-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234164819
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234164819
    reference: chr 2
allele count: 3
allele frequency: 2.496671105193076e-5
allele num: 120160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.187G>A
  hgvsp: ENSP00000375875.4:p.Val63Ile
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*68G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.187G>A
  hgvsp: ENSP00000398773.1:p.Val63Ile
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.187G>A
  hgvsp: ENSP00000409215.1:p.Val63Ile
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.333G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.187G>A
  hgvsp: ENSP00000318259.6:p.Val63Ile
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.330G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.187G>A
  hgvsp: ENSP00000362625.5:p.Val63Ile
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.187G>A
  hgvsp: ENSP00000375872.4:p.Val63Ile
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-66G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.314G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.187G>A
  hgvsp: ENSP00000375873.1:p.Val63Ile
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.187G>A
  hgvsp: ENSP00000412046.1:p.Val63Ile
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39227
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val63Ile
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ

2-234164833-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234164833
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234164833
    reference: chr 2
allele count: 2
allele frequency: 1.684664499065011e-5
allele num: 118718
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.201C>T
  hgvsp: ENST00000417017.1:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.201C>T
  hgvsp: ENST00000347464.5:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.201C>T
  hgvsp: ENST00000419681.1:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.347C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.344C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-52C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*82C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.201C>T
  hgvsp: ENST00000444735.1:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.201C>T
  hgvsp: ENST00000392018.1:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.201C>T
  hgvsp: ENST00000392020.4:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.201C>T
  hgvsp: ENST00000373525.5:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.201C>T
  hgvsp: ENST00000392017.4:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.328C>T
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His67His
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

2-234164834-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234164834
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234164834
    reference: chr 2
allele count: 25
allele frequency: 2.109277445918126e-4
allele num: 118524
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.202G>A
  hgvsp: ENSP00000375872.4:p.Glu68Lys
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.202G>A
  hgvsp: ENSP00000409215.1:p.Glu68Lys
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.202G>A
  hgvsp: ENSP00000375875.4:p.Glu68Lys
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.348G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.202G>A
  hgvsp: ENSP00000412046.1:p.Glu68Lys
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.202G>A
  hgvsp: ENSP00000398773.1:p.Glu68Lys
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.202G>A
  hgvsp: ENSP00000362625.5:p.Glu68Lys
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-51G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*83G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.329G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.202G>A
  hgvsp: ENSP00000375873.1:p.Glu68Lys
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.202G>A
  hgvsp: ENSP00000318259.6:p.Glu68Lys
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.345G>A
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11567
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu68Lys
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum

2-234164841-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234164841
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234164841
    reference: chr 2
allele count: 1
allele frequency: 8.5647236163689e-6
allele num: 116758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.209G>A
  hgvsp: ENSP00000398773.1:p.Arg70Lys
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.209G>A
  hgvsp: ENSP00000375872.4:p.Ser70Asn
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.352G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*90G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.355G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.209G>A
  hgvsp: ENSP00000362625.5:p.Arg70Lys
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.209G>A
  hgvsp: ENSP00000409215.1:p.Arg70Lys
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.209G>A
  hgvsp: ENSP00000412046.1:p.Ser70Asn
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.209G>A
  hgvsp: ENSP00000375873.1:p.Ser70Asn
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.209G>A
  hgvsp: ENSP00000375875.4:p.Ser70Asn
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.336G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.209G>A
  hgvsp: ENSP00000318259.6:p.Arg70Lys
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-44G>A
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser70Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ

2-234164853-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234164853
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234164853
    reference: chr 2
allele count: 2
allele frequency: 1.779359430604982e-5
allele num: 112400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.209+12C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-44+12C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.209+12C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.209+12C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.209+12C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.209+12C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*90+12C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.209+12C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.209+12C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.336+12C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.352+12C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.209+12C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.355+12C>T
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10151
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25423
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

2-234164854-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234164854
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234164854
    reference: chr 2
allele count: 13
allele frequency: 1.164832801691696e-4
allele num: 111604
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.209+13T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.209+13T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-44+13T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.352+13T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.209+13T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.355+13T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.209+13T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.209+13T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.209+13T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.209+13T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.209+13T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.336+13T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*90+13T>C
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2779
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11560
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

2-234164886-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234164886
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234164886
    reference: chr 2
allele count: 89
allele frequency: 8.728057271746592e-4
allele num: 101970
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.209+45A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.352+45A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.209+45A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.209+45A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.209+45A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.209+45A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-44+45A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.209+45A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.209+45A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.336+45A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.209+45A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*90+45A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.355+45A>G
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18712
  bin: 1.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 8208
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 12957
  bin: 1.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7530
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum

2-234164887-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234164887
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234164887
    reference: chr 2
allele count: 1
allele frequency: 9.974863344372182e-6
allele num: 100252
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.355+46T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.209+46T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.209+46T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.209+46T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.209+46T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-44+46T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*90+46T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.209+46T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.209+46T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.209+46T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.336+46T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.209+46T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.352+46T>C
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12918
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

2-234164890-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234164890
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234164890
    reference: chr 2
allele count: 1
allele frequency: 1.010815728292732e-5
allele num: 98930
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.209+49A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-44+49A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.209+49A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.209+49A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.209+49A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.352+49A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.209+49A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*90+49A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.336+49A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.209+49A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.209+49A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.209+49A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.355+49A>G
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18003
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9025
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12850
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

2-234171726-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234171726
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234171726
    reference: chr 2
allele count: 4
allele frequency: 4.070915345315394e-5
allele num: 98258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.337-50C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.210-50C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.210-50C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.209+6885C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-43-50C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.353-50C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.356-50C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.209+6885C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*91-50C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.210-50C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.209+6885C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.210-50C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.209+6885C>T
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12741
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7918
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9903
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17507
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-234171728-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234171728
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234171728
    reference: chr 2
allele count: 8
allele frequency: 8.100773623881081e-5
allele num: 98756
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-43-48C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.210-48C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.209+6887C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.210-48C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.209+6887C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.209+6887C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.210-48C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.337-48C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*91-48C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.210-48C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.353-48C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.209+6887C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.356-48C>T
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9855
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11811
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17485
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

2-234171730-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234171730
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234171731
    reference: chr 2
allele count: 1
allele frequency: 1.00928542591845e-5
allele num: 99080
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.209+6891dupC
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.210-44dupC
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.356-44dupC
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.337-44dupC
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.209+6891dupC
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.209+6891dupC
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.210-44dupC
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.353-44dupC
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.210-44dupC
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-43-44dupC
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.210-44dupC
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*91-44dupC
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.209+6891dupC
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9824
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

2-234171732-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234171732
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234171732
    reference: chr 2
allele count: 6
allele frequency: 6.054123867374327e-5
allele num: 99106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.356-44C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.210-44C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.210-44C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*91-44C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.209+6891C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.209+6891C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.209+6891C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.209+6891C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.210-44C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.353-44C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-43-44C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.337-44C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.210-44C>T
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17210
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9291
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4982
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-234171733-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234171733
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234171733
    reference: chr 2
allele count: 8
allele frequency: 8.063053075046866e-5
allele num: 99218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.210-43G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.209+6892G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-43-43G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.356-43G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.337-43G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.209+6892G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.209+6892G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.353-43G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.210-43G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.210-43G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.210-43G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.209+6892G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*91-43G>A
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13406
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9707
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16776
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum

2-234171733-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234171733
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234171733
    reference: chr 2
allele count: 11
allele frequency: 1.108669797818944e-4
allele num: 99218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.353-43G>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.210-43G>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.210-43G>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-43-43G>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.209+6892G>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.210-43G>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.210-43G>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*91-43G>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.337-43G>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.356-43G>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.209+6892G>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.209+6892G>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.209+6892G>T
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9707
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7756
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13406
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16776
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

2-234171738-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234171738
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234171738
    reference: chr 2
allele count: 1
allele frequency: 9.923391418251101e-6
allele num: 100772
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.337-38T>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.210-38T>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*91-38T>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-43-38T>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.209+6897T>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.210-38T>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.210-38T>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.356-38T>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.210-38T>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.209+6897T>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.209+6897T>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.353-38T>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.209+6897T>A
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14500
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

2-234171742-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234171742
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234171742
    reference: chr 2
allele count: 9
allele frequency: 8.837044892188053e-5
allele num: 101844
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.209+6901A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-43-34A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.337-34A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.210-34A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.210-34A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.210-34A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.209+6901A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*91-34A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.353-34A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.356-34A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.210-34A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.209+6901A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.209+6901A>G
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12022
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6242
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22622
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS

2-234171742-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234171742
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234171742
    reference: chr 2
allele count: 6
allele frequency: 5.891363261458701e-5
allele num: 101844
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.209+6901A>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*91-34A>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.356-34A>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.210-34A>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.353-34A>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-43-34A>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.209+6901A>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.210-34A>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.210-34A>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.210-34A>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.209+6901A>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.337-34A>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.209+6901A>T
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12022
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9248
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

2-234171744-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234171744
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234171744
    reference: chr 2
allele count: 1
allele frequency: 9.741841207988309e-6
allele num: 102650
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.210-32A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.210-32A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.356-32A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.209+6903A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.210-32A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.353-32A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.337-32A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.209+6903A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.209+6903A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*91-32A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-43-32A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.210-32A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.209+6903A>G
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10955
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8977
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24076
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

2-234171748-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234171748
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234171748
    reference: chr 2
allele count: 2
allele frequency: 1.918722898039065e-5
allele num: 104236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.210-28T>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*91-28T>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-43-28T>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.210-28T>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.210-28T>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.210-6900T>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.210-6900T>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.353-28T>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.210-6900T>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.210-6900T>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.337-28T>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.356-28T>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.210-28T>A
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8698
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-234171749-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234171749
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234171749
    reference: chr 2
allele count: 1
allele frequency: 9.565716472163766e-6
allele num: 104540
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.356-27C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.210-6899C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.210-6899C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.210-27C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.210-27C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.210-27C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.337-27C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.353-27C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-43-27C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.210-6899C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.210-27C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.210-6899C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*91-27C>T
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27853
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

2-234171750-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234171750
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234171750
    reference: chr 2
allele count: 1
allele frequency: 9.507149376331001e-6
allele num: 105184
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.210-26T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.210-26T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-43-26T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.210-6898T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.210-6898T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.210-26T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.210-26T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.356-26T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.337-26T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.353-26T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*91-26T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.210-6898T>C
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.210-6898T>C
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7865
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-234171757-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234171757
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234171757
    reference: chr 2
allele count: 1
allele frequency: 9.164726799494107e-6
allele num: 109114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.210-19G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.210-6891G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.210-19G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.210-19G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.210-6891G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.210-19G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.210-6891G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.353-19G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.210-6891G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-43-19G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.337-19G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.356-19G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*91-19G>A
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5957
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

2-234171770-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234171770
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234171770
    reference: chr 2
allele count: 1
allele frequency: 8.693988976021978e-6
allele num: 115022
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.356-6A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.337-6A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.210-6A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.210-6A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*91-6A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-43-6A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.210-6878A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.210-6A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.210-6878A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.210-6A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.210-6878A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.353-6A>G
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.210-6878A>G
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.210-6A>G
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

2-234171779-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234171779
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234171779
    reference: chr 2
allele count: 8
allele frequency: 6.819654243529852e-5
allele num: 117308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.210-6869C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.210-6869C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.356C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-40C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.340C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.213C>T
  hgvsp: ENST00000392018.1:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.213C>T
  hgvsp: ENST00000417017.1:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*94C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.213C>T
  hgvsp: ENST00000392017.4:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.213C>T
  hgvsp: ENST00000392020.4:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.359C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.210-6869C>T
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.210-6869C>T
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10578
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro71Pro
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-234171780-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234171780
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234171780
    reference: chr 2
allele count: 1
allele frequency: 8.506005239699228e-6
allele num: 117564
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.214G>A
  hgvsp: ENSP00000375872.4:p.Gly72Arg
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*95G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.210-6868G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.214G>A
  hgvsp: ENSP00000375873.1:p.Gly72Arg
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.357G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.210-6868G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.341G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-39G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.214G>A
  hgvsp: ENSP00000375875.4:p.Gly72Arg
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.210-6868G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.214G>A
  hgvsp: ENSP00000412046.1:p.Gly72Arg
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.360G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.210-6868G>A
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly72Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP

2-234171789-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234171789
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234171789
    reference: chr 2
allele count: 1
allele frequency: 8.409580193756727e-6
allele num: 118912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000397512
  ensembl transcript: ENST00000431917
  gene symbol: ATG16L1
  hgvsc: ENST00000431917.1:c.-30G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375872
  ensembl transcript: ENST00000392017
  gene symbol: ATG16L1
  hgvsc: ENST00000392017.4:c.223G>A
  hgvsp: ENSP00000375872.4:p.Gly75Ser
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375873
  ensembl transcript: ENST00000392018
  gene symbol: ATG16L1
  hgvsc: ENST00000392018.1:c.223G>A
  hgvsp: ENSP00000375873.1:p.Gly75Ser
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000485623
  gene symbol: ATG16L1
  hgvsc: ENST00000485623.1:n.366G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375875
  ensembl transcript: ENST00000392020
  gene symbol: ATG16L1
  hgvsc: ENST00000392020.4:c.223G>A
  hgvsp: ENSP00000375875.4:p.Gly75Ser
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000409215
  ensembl transcript: ENST00000444735
  gene symbol: ATG16L1
  hgvsc: ENST00000444735.1:c.210-6859G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000412046
  ensembl transcript: ENST00000417017
  gene symbol: ATG16L1
  hgvsc: ENST00000417017.1:c.223G>A
  hgvsp: ENSP00000412046.1:p.Gly75Ser
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000474148
  gene symbol: ATG16L1
  hgvsc: ENST00000474148.1:n.350G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000398773
  ensembl transcript: ENST00000419681
  gene symbol: ATG16L1
  hgvsc: ENST00000419681.1:c.210-6859G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000375876
  ensembl transcript: ENST00000392021
  gene symbol: ATG16L1
  hgvsc: ENST00000392021.3:c.*104G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000318259
  ensembl transcript: ENST00000347464
  gene symbol: ATG16L1
  hgvsc: ENST00000347464.5:c.210-6859G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085978
  ensembl transcript: ENST00000479942
  gene symbol: ATG16L1
  hgvsc: ENST00000479942.1:n.369G>A
  variant of: http://identifiers.org/hgnc/21498
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085978
  ensembl protein: ENSP00000362625
  ensembl transcript: ENST00000373525
  gene symbol: ATG16L1
  hgvsc: ENST00000373525.5:c.210-6859G>A
  variant of: http://identifiers.org/hgnc/21498
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly75Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: G

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1519
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16832
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1059
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5431
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3722
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 124
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1146
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.286670097786928e-4
allele num: 7772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.182e0

MQRankSum
type: SiteQuality
SIO_000300: -7.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.068e0

QD
type: SiteQuality
SIO_000300: 9.539999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.52274e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.86e-2

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 225
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18197
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3341
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5466
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1392
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 70
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

East Asian
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European (Non-Finnish)
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South Asian
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ClippingRankSum
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FS
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VQSLOD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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QD
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Latino
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South Asian
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allele frequency: 1.281065846784525e-4
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num of homozygotes: 0

European (Finnish)
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European (Non-Finnish)
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Other
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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MQRankSum
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FS
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VQSLOD
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BaseQRankSum
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 1.024065540194572e-3
allele num: 7812
num of homozygotes: 0

European (Finnish)
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Other
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African
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Latino
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European (Non-Finnish)
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East Asian
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ReadPosRankSum
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QD
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InbreedingCoeff
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DP
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FS
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BaseQRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 5554
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South Asian
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East Asian
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Other
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MQRankSum
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DP
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ClippingRankSum
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FS
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BaseQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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East Asian
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African
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European (Finnish)
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Latino
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DP
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VQSLOD
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FS
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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East Asian
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South Asian
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European (Non-Finnish)
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African
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MQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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QD
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DP
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MQ
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ClippingRankSum
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European (Non-Finnish)
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African
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European (Finnish)
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Latino
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East Asian
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MQ
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ReadPosRankSum
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FS
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VQSLOD
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MQRankSum
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DP
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 5672
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 3.08641975308642e-3
allele num: 324
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
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BaseQRankSum
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MQRankSum
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QD
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MQ
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DP
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ClippingRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1266
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5692
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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ClippingRankSum
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SIO_000300: 1.38e0

QD
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BaseQRankSum
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MQRankSum
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FS
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MQ
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VQSLOD
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DP
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InbreedingCoeff
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SIO_000300: -7.69e-2

ReadPosRankSum
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SIO_000300: -7.2e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 1
allele frequency: 7.987220447284345e-4
allele num: 1252
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 3.125e-3
allele num: 320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5666
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
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num of homozygotes: 0

BaseQRankSum
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SIO_000300: -1.543e0

VQSLOD
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SIO_000300: -1.723e0

QD
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SIO_000300: 1.558e1

InbreedingCoeff
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SIO_000300: -7.75e-2

DP
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SIO_000300: 3.22543e5

FS
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SIO_000300: 2.182e0

ClippingRankSum
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SIO_000300: -8.110000000000001e-1

MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: -1.75e-1

ReadPosRankSum
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SIO_000300: 9.389999999999999e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5698
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7842
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 5.0e-2
allele num: 20
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.20154e5

VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.66e-1

InbreedingCoeff
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MQ
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 9.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.65e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 1224
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.832844574780059e-4
allele num: 5456
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele num: 300
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Other
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East Asian
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allele num: 400
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South Asian
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InbreedingCoeff
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QD
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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DP
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FS
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MQRankSum
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SIO_000300: -8.49e-1

ClippingRankSum
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SIO_000300: -6.43e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 5336
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele num: 7778
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Latino
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African
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InbreedingCoeff
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ClippingRankSum
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QD
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ReadPosRankSum
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MQRankSum
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VQSLOD
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MQ
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BaseQRankSum
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FS
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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Other
type: Population
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allele frequency: 6.493506493506494e-3
allele num: 154
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 354
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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DP
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MQ
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MQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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South Asian
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Other
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African
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Latino
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DP
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QD
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FS
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MQ
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InbreedingCoeff
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Latino
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European (Finnish)
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European (Non-Finnish)
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East Asian
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QD
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VQSLOD
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FS
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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East Asian
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Other
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European (Finnish)
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Latino
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BaseQRankSum
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QD
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MQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQ
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Non-Finnish)
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South Asian
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Latino
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European (Finnish)
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DP
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QD
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VQSLOD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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African
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East Asian
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South Asian
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MQRankSum
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MQ
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FS
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VQSLOD
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QD
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DP
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ReadPosRankSum
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GenotypeQuality
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VQSLOD
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MQRankSum
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InbreedingCoeff
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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East Asian
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Latino
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South Asian
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MQRankSum
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.926e1

VQSLOD
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SIO_000300: 1.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.04e-1

DP
type: SiteQuality
SIO_000300: 1.348164e6

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3957
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variant carriers: 2

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.698138839831544e-5
allele num: 58888
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9150
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6248
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.490134994807892e-5
allele num: 15408
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ClippingRankSum
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SIO_000300: -3.6e-2

FS
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QD
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MQ
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SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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BaseQRankSum
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DP
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SIO_000300: 1.357483e6

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11042
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.226430922113957e-5
allele num: 61988
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
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SIO_000300: 7.78e-1

FS
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SIO_000300: 5.641e0

DP
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InbreedingCoeff
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SIO_000300: -3.0e-4

QD
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ClippingRankSum
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VQSLOD
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SIO_000300: -1.099e0

ReadPosRankSum
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SIO_000300: 2.76e-1

MQ
type: SiteQuality
SIO_000300: 5.887e1

MQRankSum
type: SiteQuality
SIO_000300: -7.33e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9472
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.594438598169585e-5
allele num: 62718
num of homozygotes: 0

QD
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

DP
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BaseQRankSum
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SIO_000300: -7.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.35e0

VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66336
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.654410053525716e-4
allele num: 8594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 3.57e-1

InbreedingCoeff
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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QD
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DP
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BaseQRankSum
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SIO_000300: -1.856e0

FS
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SIO_000300: 1.354e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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Other
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South Asian
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MQRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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MQ
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DP
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QD
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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East Asian
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Other
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European (Non-Finnish)
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QD
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VQSLOD
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MQ
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MQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
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South Asian
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Latino
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InbreedingCoeff
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FS
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MQRankSum
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ClippingRankSum
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VQSLOD
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QD
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BaseQRankSum
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

European (Non-Finnish)
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East Asian
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African
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Latino
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Other
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South Asian
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FS
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ReadPosRankSum
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DP
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ClippingRankSum
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MQRankSum
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VQSLOD
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MQ
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QD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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South Asian
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European (Finnish)
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Other
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Latino
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European (Non-Finnish)
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QD
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ReadPosRankSum
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MQ
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DP
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FS
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VQSLOD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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Latino
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East Asian
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European (Finnish)
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Other
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QD
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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FS
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MQ
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DP
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MQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

European (Non-Finnish)
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Latino
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South Asian
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European (Finnish)
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African
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QD
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DP
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MQRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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East Asian
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South Asian
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European (Finnish)
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VQSLOD
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InbreedingCoeff
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DP
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FS
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MQ
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South Asian
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Latino
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East Asian
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MQ
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VQSLOD
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DP
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66524
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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QD
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FS
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MQRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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East Asian
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allele num: 8610
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European (Finnish)
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European (Non-Finnish)
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South Asian
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FS
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MQ
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QD
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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DP
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ClippingRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.511278195488722e-5
allele num: 66500
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European (Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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Latino
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African
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QD
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InbreedingCoeff
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DP
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VQSLOD
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FS
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQ
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SIO_000300: 6.0e1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66434
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.023122570083896e-4
allele num: 9774
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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Latino
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East Asian
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South Asian
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MQRankSum
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QD
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ClippingRankSum
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FS
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VQSLOD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 2
allele frequency: 1.218917601170161e-4
allele num: 16408
num of homozygotes: 0

African
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Latino
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Other
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FS
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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DP
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MQRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Latino
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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QD
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DP
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FS
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VQSLOD
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele num: 6576
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Latino
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African
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East Asian
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Other
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South Asian
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European (Non-Finnish)
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allele frequency: 3.679514304111857e-4
allele num: 65226
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MQRankSum
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BaseQRankSum
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.08e-2

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 1.623557e6

QD
type: SiteQuality
SIO_000300: 1.329e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16026
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11250
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.534212948757288e-4
allele num: 6518
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64032
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.75e-1

DP
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InbreedingCoeff
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SIO_000300: -4.0e-4

BaseQRankSum
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SIO_000300: -2.4e0

ReadPosRankSum
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SIO_000300: 3.07e-1

MQRankSum
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SIO_000300: 9.67e-1

FS
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VQSLOD
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SIO_000300: 5.06e-1

QD
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SIO_000300: 1.537e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8072
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.263601057406742e-5
allele num: 61282
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15654
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
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SIO_000300: 1.484314e6

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

InbreedingCoeff
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SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 2.282e0

VQSLOD
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SIO_000300: 9.409999999999999e-1

BaseQRankSum
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MQ
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SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.162e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 13
allele frequency: 1.6270337922403e-3
allele num: 7990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60774
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9378
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.512e0

ClippingRankSum
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BaseQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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SIO_000300: -1.4e-3

DP
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MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 8.25e1
variant carriers: 2

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9464
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 89
allele frequency: 6.007019438444924e-3
allele num: 14816
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 54716
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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DP
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VQSLOD
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FS
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MQ
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QD
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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African
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allele num: 8778
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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MQRankSum
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InbreedingCoeff
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QD
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FS
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BaseQRankSum
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DP
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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allele count: 1
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allele num: 52862
num of homozygotes: 0

Other
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East Asian
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European (Finnish)
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African
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South Asian
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FS
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MQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
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Other
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East Asian
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South Asian
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allele frequency: 7.253735673872045e-5
allele num: 13786
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 5.551443375277572e-5
allele num: 54040
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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MQ
type: SiteQuality
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QD
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VQSLOD
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MQRankSum
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FS
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DP
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 5794
num of homozygotes: 0

East Asian
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Other
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allele frequency: 1.302083333333333e-3
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Latino
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.289514405718075e-4
allele num: 54284
num of homozygotes: 0

South Asian
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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QD
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FS
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MQ
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DP
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9270
num of homozygotes: 0

European (Non-Finnish)
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allele num: 54482
num of homozygotes: 0

South Asian
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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Other
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allele count: 0
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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QD
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FS
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ClippingRankSum
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MQ
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SIO_000300: 6.119e1

DP
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.508630187293426e-5
allele num: 54460
num of homozygotes: 0

African
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allele count: 3
allele frequency: 3.714710252600297e-4
allele num: 8076
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13906
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5826
num of homozygotes: 0

VQSLOD
type: SiteQuality
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BaseQRankSum
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QD
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MQRankSum
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DP
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FS
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InbreedingCoeff
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MQ
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ReadPosRankSum
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SIO_000300: -1.24e-1

ClippingRankSum
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SIO_000300: 1.46e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9292
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 6788
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 54538
num of homozygotes: 0

South Asian
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allele num: 13890
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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DP
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MQ
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FS
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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Other
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele num: 54538
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African
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South Asian
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VQSLOD
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MQ
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DP
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ClippingRankSum
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FS
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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East Asian
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South Asian
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European (Non-Finnish)
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Other
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MQ
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QD
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ReadPosRankSum
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DP
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FS
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5924
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56062
num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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allele frequency: 6.36762416867129e-4
allele num: 14134
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 2.5e-3

BaseQRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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QD
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ClippingRankSum
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SIO_000300: -1.81e-1

MQRankSum
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SIO_000300: 3.99e-1

DP
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SIO_000300: 1.269873e6

FS
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SIO_000300: 0.0e0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 14134
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 8.918697156719346e-5
allele num: 56062
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 1.688048615800135e-4
allele num: 5924
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 2.5e-3

FS
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BaseQRankSum
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VQSLOD
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MQ
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QD
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ReadPosRankSum
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MQRankSum
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DP
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ClippingRankSum
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SIO_000300: -1.81e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.768847065482719e-5
allele num: 56534
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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num of homozygotes: 0

Latino
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South Asian
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num of homozygotes: 0

VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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FS
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QD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -1.381e0

DP
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MQ
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57382
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.346866932644919e-4
allele num: 8522
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

DP
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SIO_000300: 1.327788e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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VQSLOD
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SIO_000300: 1.06e0

ReadPosRankSum
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SIO_000300: 1.51e-1

ClippingRankSum
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SIO_000300: -1.43e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 1.654533421575116e-4
allele num: 6044
num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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QD
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FS
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 798
num of homozygotes: 0

Latino
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allele num: 9920
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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FS
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QD
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VQSLOD
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InbreedingCoeff
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DP
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MQRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

South Asian
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Latino
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num of homozygotes: 0

Other
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European (Non-Finnish)
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East Asian
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European (Finnish)
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ClippingRankSum
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InbreedingCoeff
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FS
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MQ
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MQRankSum
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VQSLOD
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DP
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BaseQRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 200
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42758
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3892
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10932
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.578033769922677e-5
allele num: 63370
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.119e0

FS
type: SiteQuality
SIO_000300: 7.443e0

DP
type: SiteQuality
SIO_000300: 1.49929e6

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.401e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.804e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeDepth
all individuals: 1201
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 178
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 339
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4019
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3638
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 44626
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2126
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.00770847932726e-4
allele num: 8562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.261670451678022e-4
allele num: 15852
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

DP
type: SiteQuality
SIO_000300: 1.531008e6

QD
type: SiteQuality
SIO_000300: 1.839e1

FS
type: SiteQuality
SIO_000300: 1.533e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.19e-1

GenotypeDepth
all individuals: 104
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1194
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 749
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 214
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2004
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1145
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3629
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44752
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4054
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1286
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64734
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.97021887334051e-5
allele num: 11148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 3.203e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.453e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.8e-1

FS
type: SiteQuality
SIO_000300: 5.393e0

DP
type: SiteQuality
SIO_000300: 1.534682e6

GenotypeDepth
all individuals: 259
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3636
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1351
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4171
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1326
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46071
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1184
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10002
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11286
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16110
num of homozygotes: 0